Subacute Thyroiditis: A Self-Limiting Condition with Four Phases

Subacute thyroiditis, also known as De Quervain’s thyroiditis or subacute granulomatous thyroiditis, is a condition that is believed to occur after a viral infection. It is characterized by hyperthyroidism, a painful goitre, and raised ESR during the first phase, which lasts for 3-6 weeks. The second phase, which lasts for 1-3 weeks, is characterized by euthyroidism. The third phase, which can last for weeks to months, is characterized by hypothyroidism. Finally, in the fourth phase, the thyroid structure and function return to normal.

To diagnose subacute thyroiditis, thyroid scintigraphy is used to show a globally reduced uptake of iodine-131. However, most patients do not require treatment as the condition is self-limiting. Thyroid pain may respond to aspirin or other NSAIDs, but in more severe cases, steroids may be used, particularly if hypothyroidism develops.

It is important to note that subacute thyroiditis is just one of the many causes of thyroid dysfunction. A Venn diagram can be used to show how different causes of thyroid dysfunction may manifest. It is interesting to note that many causes of hypothyroidism may have an initial thyrotoxic phase. Proper diagnosis and management of thyroid dysfunction are crucial to ensure optimal patient outcomes.

Managing High INR Levels in Patients on Warfarin: Treatment Options

When a patient on warfarin presents with a high INR level, it is important to take immediate action to prevent spontaneous bleeding and haemorrhage. Here are some treatment options and their implications:

1. Give a dose of vitamin K immediately and re-check her INR in 24 hours: Administering vitamin K is necessary to reverse the effects of warfarin, which is a vitamin K antagonist. In this situation, it is important to act quickly to reduce the INR level and prevent haemorrhage.

2. Give intramuscular (IM) vitamin K immediately and re-check her INR in 24 hours: While IM vitamin K can be given in cases where peripheral access is difficult, it is slower acting. In a situation with a high INR level, it is important to reduce the INR as soon as possible to prevent haemorrhage.

3. Give vitamin K immediately and re-check her INR in one week: While giving vitamin K is necessary to prevent spontaneous haemorrhage, it is important to recheck the INR relatively soon to ensure it has dropped below the required range. Waiting a week would be too long, and the INR should be rechecked within 24 hours of administering vitamin K.

4. Stop warfarin for life: If the patient has no actual side-effects from warfarin, such as anaphylaxis, they can continue to use it long-term with tighter control.

5. Switch from warfarin to aspirin: Aspirin cannot be used as a substitute for warfarin as it does not prevent thrombosis.

In conclusion, managing high INR levels in patients on warfarin requires prompt action to prevent haemorrhage. Vitamin K administration is necessary, and the INR level should be rechecked within 24 hours to ensure it has dropped below the required range.

Common Causes of Renal Dysfunction and Their Clinical Features

Renal dysfunction can have various causes, and identifying the underlying condition is crucial for appropriate management. Here are some common causes of renal dysfunction and their clinical features:

Renal artery stenosis (RAS): RAS can lead to renovascular hypertension and renal impairment, especially in older individuals with atherosclerosis or diabetes mellitus. Symptoms may include sudden worsening of hypertension or renal function, and ultrasonography may show kidney size asymmetry. Treatment options include pharmacologic control of hypertension and serum cholesterol levels, as well as surgical or percutaneous revascularisation in selected cases.

Membranous nephropathy: This is a type of nephrotic syndrome that often presents with oedema and significant proteinuria (>3.5 g/24 h). It is more common in adults and may be asymptomatic in some cases.

Cholesterol emboli syndrome: This condition may occur after an invasive arterial procedure and is characterised by renal dysfunction, hypertension, and distal ischaemia due to small-vessel occlusion. Livedo reticularis and blue toe syndrome may also be present.

Diabetic glomerulosclerosis: This is a complication of diabetes mellitus that can cause persistent albuminuria, declining glomerular filtration rate, and elevated blood pressure. Physical findings associated with long-term diabetes may also be present.

Reflux nephropathy: This condition is caused by the backflow of urine from the bladder to the kidneys and can lead to renal scarring. It is more common in children with urinary tract abnormalities but can also occur in adults with bladder outlet obstruction or neurogenic bladder. Symptoms may include nephrotic syndrome and urinary tract infection.

In summary, renal dysfunction can have diverse causes and presentations, and a thorough evaluation is necessary to establish the diagnosis and guide appropriate treatment.

The recommended first-line treatment for uncomplicated UTIs is nitrofurantoin, with trimethoprim as an alternative if resistance is low. Painless haematuria warrants investigation of the renal tract, and this should also be considered in men with confirmed UTIs. Amoxicillin is not typically recommended for UTIs due to its inactivation by penicillinase produced by E. coli, but it may be appropriate if the causative organism is sensitive to it. While waiting for MSU results, empirical antibiotic treatment should be started immediately if a UTI is suspected. Ciprofloxacin is indicated for acute prostatitis or pyelonephritis, not uncomplicated lower UTIs, and caution is needed when prescribing quinolones to the elderly due to the risk of tendon rupture. Trimethoprim is an appropriate first-line antibiotic for lower UTIs in men, with a 7-day course recommended, while a 3-day course is suitable for non-pregnant women under 65.

An urgent referral to a breast clinic is necessary for women over the age of 30 who have an unexplained breast lump, using a suspected cancer pathway referral. This is in accordance with NICE guidelines, as the lump may represent cancerous pathology and should be investigated promptly. Conservative management or routine referral to breast clinic is not appropriate in this case, as the potential for cancerous pathology requires urgent attention.

In 2015, NICE released guidelines for referring individuals suspected of having breast cancer. If a person is 30 years or older and has an unexplained breast lump with or without pain, or if they are 50 years or older and have discharge, retraction, or other concerning changes in one nipple only, they should be referred using a suspected cancer pathway referral for an appointment within two weeks. If a person has skin changes that suggest breast cancer or is 30 years or older with an unexplained lump in the axilla, a suspected cancer pathway referral should also be considered. For individuals under 30 years old with an unexplained breast lump with or without pain, non-urgent referral should be considered.

To improve the poorly controlled hypertension of this patient who is already taking an ACE inhibitor and a calcium channel blocker, the next step is to add a thiazide-like diuretic. Indapamide is the recommended drug for this purpose, although chlortalidone is also an option. Beta-blockers like bisoprolol and alpha-blockers like doxazosin are not appropriate at this stage of treatment. Combining an angiotensin II receptor blocker with ramipril is not advisable due to the risk of electrolyte imbalance and kidney problems. If the patient has confirmed resistant hypertension, a fourth antihypertensive medication may be added or specialist advice sought. For those with low potassium levels, spironolactone may be considered.

NICE Guidelines for Managing Hypertension

Hypertension, or high blood pressure, is a common condition that can lead to serious health problems if left untreated. The National Institute for Health and Care Excellence (NICE) has published updated guidelines for the management of hypertension in 2019. Some of the key changes include lowering the threshold for treating stage 1 hypertension in patients under 80 years old, allowing the use of angiotensin receptor blockers instead of ACE inhibitors, and recommending the use of a calcium channel blocker or thiazide-like diuretic in addition to an ACE inhibitor or angiotensin receptor blocker.

The guidelines also provide a flow chart for the diagnosis and management of hypertension. Lifestyle advice, such as reducing salt intake, caffeine intake, and alcohol consumption, as well as exercising more and losing weight, should not be forgotten and is frequently tested in exams. Treatment options depend on the patient’s age, ethnicity, and other factors, and may involve a combination of drugs.

NICE recommends treating stage 1 hypertension in patients under 80 years old if they have target organ damage, established cardiovascular disease, renal disease, diabetes, or a 10-year cardiovascular risk equivalent to 10% or greater. For patients with stage 2 hypertension, drug treatment should be offered regardless of age. The guidelines also provide step-by-step treatment options, including adding a third or fourth drug if necessary.

New drugs, such as direct renin inhibitors like Aliskiren, may have a role in patients who are intolerant of more established antihypertensive drugs. However, trials have only investigated the fall in blood pressure and no mortality data is available yet. Patients who fail to respond to step 4 measures should be referred to a specialist. The guidelines also provide blood pressure targets for different age groups.

Raynaud’s disease can be managed with non-pharmacological measures such as keeping warm, avoiding cold temperatures, wearing gloves, and quitting smoking. However, if symptoms persist, a first-line pharmacological option such as nifedipine, a dihydropyridine calcium channel blocker, can be considered. Intravenous epoprostenol is an option but not the first line due to potential adverse effects. Diltiazem, a non-dihydropyridine calcium channel blocker, should be avoided in this case. Beta-blockers such as metoprolol and propranolol should also be avoided as they can worsen Raynaud’s phenomenon.

Understanding Raynaud’s Phenomenon

Raynaud’s phenomenon is a condition where the digital arteries and cutaneous arteriole overreact to cold or emotional stress, causing an exaggerated vasoconstrictive response. It can be classified as primary or secondary. Primary Raynaud’s disease is more common in young women and presents with bilateral symptoms. On the other hand, secondary Raynaud’s phenomenon is associated with underlying connective tissue disorders such as scleroderma, rheumatoid arthritis, and systemic lupus erythematosus, among others.

Factors that suggest an underlying connective tissue disease include onset after 40 years, unilateral symptoms, rashes, presence of autoantibodies, and digital ulcers. Management of Raynaud’s phenomenon involves referral to secondary care for patients with suspected secondary Raynaud’s phenomenon. First-line treatment includes calcium channel blockers such as nifedipine. In severe cases, IV prostacyclin (epoprostenol) infusions may be used, and their effects may last for several weeks or months.

Levonorgestrel should be taken within 72 hours of unprotected sexual intercourse (UPSI). Administration of a single dose of levonorgestrel after this time is not licensed but may be considered.

Emergency contraception is available in the UK through two methods: emergency hormonal contraception and intrauterine device (IUD). Emergency hormonal contraception includes two types of pills: levonorgestrel and ulipristal. Levonorgestrel works by stopping ovulation and inhibiting implantation, while ulipristal primarily inhibits ovulation. Levonorgestrel should be taken as soon as possible after unprotected sexual intercourse, within 72 hours, and is 84% effective when used within this time frame. The dose should be doubled for those with a BMI over 26 or weight over 70kg. Ulipristal should be taken within 120 hours of intercourse and may reduce the effectiveness of hormonal contraception. The most effective method of emergency contraception is the copper IUD, which can be inserted within 5 days of unprotected intercourse or up to 5 days after the likely ovulation date. It may inhibit fertilization or implantation and is 99% effective regardless of where it is used in the cycle. Prophylactic antibiotics may be given if the patient is at high risk of sexually transmitted infection.

Tennis elbow is inflammation of the wrist extensor tendon at the insertion site into the lateral epicondyle, causing elbow pain that radiates down the forearm. Cubital tunnel syndrome is compression of the ulnar nerve at the elbow, causing sensory changes and weakness of hand muscles. Carpal tunnel syndrome is compression of the median nerve at the wrist, causing paraesthesia and motor deficits in the first three digits. Golfer’s elbow is inflammation of the wrist flexor tendon at the site of insertion into the medial epicondyle, causing elbow pain that radiates into the forearm. Olecranon bursitis is inflammation of the bursa overlying the olecranon process, causing a swelling that may be tender or painless.

Bacterial Causes of Malignant Otitis Externa

Malignant otitis externa is a serious infection that primarily affects patients with uncontrolled diabetes. The infection can spread to the temporal bone, causing osteomyelitis, cranial nerve palsies, and potentially central nervous system infection. The most common causative agent for this condition is Pseudomonas aeruginosa.

Haemophilus influenzae is a Gram-negative coccobacillus that can cause various infections, including cellulitis, but it is not consistent with the symptoms of malignant otitis externa.

Staphylococcus aureus, a commensal bacterium, can cause skin and soft-tissue infections, including malignant otitis externa. The characteristic signs and symptoms presented by the patient are more typical of this condition than cellulitis.

Streptococcus pneumoniae is a common cause of pneumonia and meningitis, but it is not consistent with the symptoms of malignant otitis externa.

Listeria monocytogenes is a rare cause of infection that primarily affects newborns, the elderly, and immunocompromised patients. It is not consistent with the clinical scenario provided.

To ensure the effectiveness of the contraceptive patch, it should be applied to clean, dry skin on a weekly basis for three weeks, followed by a patch-free week to stimulate a withdrawal bleed. However, if the patch change is delayed for more than 48 hours, it is important to change it immediately and use a barrier method of contraception for the next 7 days. In case of unprotected intercourse, emergency contraceptives should be considered.

The Evra patch is the only contraceptive patch that is approved for use in the UK. The patch cycle lasts for four weeks, during which the patch is worn every day for the first three weeks and changed weekly. During the fourth week, the patch is not worn, and a withdrawal bleed occurs.

If a woman delays changing the patch at the end of week one or two, she should change it immediately. If the delay is less than 48 hours, no further precautions are necessary. However, if the delay is more than 48 hours, she should change the patch immediately and use a barrier method of contraception for the next seven days. If she has had unprotected sex during this extended patch-free interval or in the last five days, emergency contraception should be considered.

If the patch removal is delayed at the end of week three, the woman should remove the patch as soon as possible and apply a new patch on the usual cycle start day for the next cycle, even if withdrawal bleeding is occurring. No additional contraception is needed.

If patch application is delayed at the end of a patch-free week, additional barrier contraception should be used for seven days following any delay at the start of a new patch cycle. For more information, please refer to the NICE Clinical Knowledge Summary on combined hormonal methods of contraception.

Dietary Recommendations for Type II Diabetes Management

Managing type II diabetes requires a comprehensive approach that includes lifestyle modifications and medication. One crucial aspect of diabetes management is a healthy, balanced diet. The National Institute for Health and Care Excellence (NICE) provides guidelines on dietary recommendations for people with type II diabetes.

Low-fat dairy and oily fish are recommended to control the intake of saturated and trans fatty acids. Oily fish contains Omega-3 fatty acids, which are cardio-protective. High-fibre foods with carbohydrates with a low glycaemic index, such as fruits, vegetables, whole grains, and pulses, are also recommended.

Sucrose-containing foods should be limited, and care should be taken to avoid excess energy intake. NICE discourages the use of foods marketed specifically for people with type II diabetes, as they are often higher in calories.

Weight loss is an essential aspect of diabetes management, particularly for overweight individuals. NICE recommends a weight loss target of 5-10% for overweight adults with type II diabetes. Those who achieve a weight loss of 10% or more in the first five years after diagnosis have the greatest chance of seeing their disease go into remission.

In summary, a healthy, balanced diet that includes low-fat dairy, oily fish, high-fibre foods with low glycaemic index carbohydrates, and limited sucrose-containing foods is crucial for managing type II diabetes. Weight loss is also an essential aspect of diabetes management, particularly for overweight individuals.

Understanding Movement Disorders Associated with Anti-Psychotic Medication

Anti-psychotic medication can cause a range of movement disorders, including tardive dyskinesia, akathisia, and Parkinsonism. Tardive dyskinesia is a common side-effect of long-term treatment with anti-psychotics, but can also occur with minimal doses. It is characterized by choreoathetoid movements, often starting in the fingers and tongue and becoming more generalized. Treatment is often unsuccessful, but may involve switching to a different medication or using agents such as tetrabenazine or benzodiazepines. Akathisia is an inner feeling of motor restlessness, with voluntary movements such as pacing or rocking. Parkinsonism is characterized by resting tremor, rigidity, and bradykinesia. These movement disorders can be mistaken for other conditions such as Huntington’s or Wilson’s disease, but the association with anti-psychotic medication and the specific symptoms make tardive dyskinesia a more likely option. It is important for healthcare professionals to monitor patients on anti-psychotic medication for these potential side-effects and adjust treatment as necessary.

Diagnosis and Investigation of Immune Thrombocytopenic Purpura (ITP)

Immune thrombocytopenic purpura (ITP) is an autoimmune disorder characterized by antiplatelet antibodies and immune-mediated platelet destruction, leading to a decrease in peripheral platelet count and an increased risk of severe bleeding. The following are the recommended diagnostic and investigative measures for ITP:

Full Blood Count: An urgent first-line investigation with a full blood count is essential to confirm platelet count, which is the hallmark of ITP. Anaemia and/or neutropenia may indicate other diseases. On peripheral blood smear, the morphology of red blood cells and leukocytes is normal, while the morphology of platelets is usually normal, with varying numbers of large platelets.

Surgical Correction: Surgical management is not the first-line intervention for ITP and is reserved for later use in patients with acute ITP, for whom splenectomy usually results in rapid, complete, and life-long clinical remission. Its results in patients with chronic ITP are typically less predictable.

Aspiration for Cytology: Further investigations, such as bone marrow aspiration, could be considered for later use in patients with ITP, such as adults older than 60 years, to exclude myelodysplastic syndrome or leukemia.

Excision Biopsy: Further investigations, such as a biopsy, could be considered further down the line, such as in adults older than 60 years, to exclude myelodysplastic syndrome or leukemia.

None: If a patient presents with purpura/petechiae on the tongue and buccal mucosa, urgent haematological referral is warranted, and not undertaking any further investigations would be inappropriate.

Diagnosis and Investigation of Immune Thrombocytopenic Purpura (ITP)

Familial hypercholesterolaemia is a single gene disorder inherited in an autosomal dominant manner. Mutations in genes such as LDLR, Apo, and PCSK9 affect cholesterol handling in the body. Patients with mutations in the LDLR gene produce a defective receptor that cannot bind LDLs, leading to cholesterol accumulation outside cells and atherosclerosis. Heterozygotes are at risk of developing premature cardiovascular disease, while homozygotes can develop severe cardiovascular disease in childhood. Cystic fibrosis is the most common autosomal recessive disease caused by mutations in the CFTR gene, inhibiting the flow of chloride ions and water, leaving mucus thickened and blocking hollow organs. Hereditary haemochromatosis is caused by mutations in the HFE gene, leading to iron overload. Sickle cell anaemia is caused by a mutation in the gene coding for β globin, leading to deformed red cells that block circulation and cause tissue oxygen deficiency. Wilson’s disease is caused by a defective copper-transporting ATPase, leading to copper accumulation in the liver, brain, and other tissues, which can be fatal if not recognized.

As a first-line treatment, NICE suggests using a strong corticosteroid and a vitamin D analogue separately, once a day for up to four weeks. The corticosteroid should be applied in the morning and the vitamin D analogue in the evening.

NICE recommends a step-wise approach for chronic plaque psoriasis, starting with regular emollients and then using a potent corticosteroid and vitamin D analogue separately, followed by a vitamin D analogue twice daily, and then a potent corticosteroid or coal tar preparation if there is no improvement. Phototherapy, systemic therapy, and topical treatments are also options for management. Topical steroids should be used cautiously and vitamin D analogues may be used long-term. Dithranol and coal tar have adverse effects but can be effective.

If a foetal heartbeat is detected on ultrasound in the case of an ectopic pregnancy, surgical management is necessary, and the appropriate procedure is a salpingectomy. This is the recommended course of action for a patient with no significant medical history and both fallopian tubes. Expectant management is not suitable in this scenario, as the foetal heartbeat is visible on ultrasound. Medical management with methotrexate is also not an option due to the foetal heartbeat, and mifepristone is not used for ectopic pregnancies.

Ectopic pregnancy is a serious condition that requires prompt investigation and management. Women who are stable are typically investigated and managed in an early pregnancy assessment unit, while those who are unstable should be referred to the emergency department. The investigation of choice for ectopic pregnancy is a transvaginal ultrasound, which will confirm the presence of a positive pregnancy test.

There are three ways to manage ectopic pregnancies: expectant management, medical management, and surgical management. The choice of management will depend on various criteria, such as the size of the ectopic pregnancy, whether it is ruptured or not, and the patient’s symptoms and hCG levels. Expectant management involves closely monitoring the patient over 48 hours, while medical management involves giving the patient methotrexate and requires follow-up. Surgical management can involve salpingectomy or salpingotomy, depending on the patient’s risk factors for infertility.

Salpingectomy is the first-line treatment for women with no other risk factors for infertility, while salpingotomy should be considered for women with contralateral tube damage. However, around 1 in 5 women who undergo a salpingotomy require further treatment, such as methotrexate and/or a salpingectomy. It is important to carefully consider the patient’s individual circumstances and make a decision that will provide the best possible outcome.

To prevent secondary bacterial infection, topical antibiotics should be administered for a patient with a likely diagnosis of corneal abrasion. It is crucial to use fluorescein to confirm the integrity of the corneal epithelium. While topical lubricant can be used, it is not the primary treatment. Topical anaesthesia is not recommended as it may cause further corneal abrasion due to loss of sensation. Topical steroid is not used to treat corneal abrasion. Simply observing and waiting for the condition to improve is not an appropriate approach.

Understanding Corneal Abrasion

Corneal abrasion is a condition that occurs when there is damage to the corneal epithelium, which is the outermost layer of the cornea. This type of injury is often caused by local trauma, such as scratching the eye with fingernails or getting hit by a branch. The symptoms of corneal abrasion include eye pain, tearing, sensitivity to light, a feeling of having a foreign object in the eye, and redness of the conjunctiva. In addition, the affected eye may experience a decrease in visual acuity.

To diagnose corneal abrasion, doctors typically use fluorescein staining. This involves placing a special dye in the eye that will highlight any areas of damage to the cornea. The abrasion will appear as a yellow-stained area on the surface of the eye. To enhance visualization, doctors may use a cobalt blue filter or a Wood’s lamp.

The treatment for corneal abrasion typically involves the use of topical antibiotics to prevent secondary bacterial infections.

The patient in question is likely suffering from glandular fever, a viral illness caused by the Ebstein-Barr virus. Symptoms include a sore throat, fever, and general malaise, as well as palpable cervical lymphadenopathy and an erythematous throat. The illness is more common in teenagers and is often spread through respiratory droplets, earning it the nickname kissing disease. The patient was prescribed amoxicillin by their GP, which can cause a non-specific maculopapular rash in patients with glandular fever. The diagnosis is typically confirmed through a Monospot blood test, which detects the presence of heterophil antibodies produced in response to the virus.

An anti-streptolysin O titre test can detect streptococcal infections, but it does not explain the patient’s rash following antibiotic use. A full blood count can be helpful in diagnosing glandular fever, as it often shows a lymphocytosis, but the Monospot test is more definitive. A nasopharyngeal aspirate for viral PCR can diagnose viral infections like measles, but this is less likely in a teenager in the UK due to vaccination. A sputum culture is not useful in diagnosing glandular fever, as the patient does not have a cough or sputum production.

Understanding Infectious Mononucleosis

Infectious mononucleosis, also known as glandular fever, is a viral infection caused by the Epstein-Barr virus (EBV) in 90% of cases. It is most commonly seen in adolescents and young adults. The classic triad of symptoms includes sore throat, pyrexia, and lymphadenopathy, which are present in around 98% of patients. Other symptoms include malaise, anorexia, headache, palatal petechiae, splenomegaly, hepatitis, lymphocytosis, haemolytic anaemia, and a maculopapular rash. The symptoms typically resolve after 2-4 weeks.

The diagnosis of infectious mononucleosis is confirmed through a heterophil antibody test (Monospot test) in the second week of the illness. Management is supportive and includes rest, drinking plenty of fluids, avoiding alcohol, and taking simple analgesia for any aches or pains. It is recommended to avoid playing contact sports for 4 weeks after having glandular fever to reduce the risk of splenic rupture.

Interestingly, there is a correlation between EBV and socioeconomic groups. Lower socioeconomic groups have high rates of EBV seropositivity, having frequently acquired EBV in early childhood when the primary infection is often subclinical. However, higher socioeconomic groups show a higher incidence of infectious mononucleosis, as acquiring EBV in adolescence or early adulthood results in symptomatic disease.

The presence of recurrent pneumothoraces and joint hypermobility suggests the possibility of Marfan’s syndrome.

Understanding Marfan’s Syndrome

Marfan’s syndrome is a genetic disorder that affects the connective tissue in the body. It is caused by a defect in the FBN1 gene on chromosome 15, which codes for the protein fibrillin-1. This disorder is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the defective gene from one parent to develop the condition. Marfan’s syndrome affects approximately 1 in 3,000 people.

The features of Marfan’s syndrome include a tall stature with an arm span to height ratio greater than 1.05, a high-arched palate, arachnodactyly (long, slender fingers), pectus excavatum (sunken chest), pes planus (flat feet), and scoliosis (curvature of the spine). In addition, individuals with Marfan’s syndrome may experience cardiovascular problems such as dilation of the aortic sinuses, mitral valve prolapse, and aortic aneurysm. They may also have lung issues such as repeated pneumothoraces. Eye problems are also common, including upwards lens dislocation, blue sclera, and myopia. Finally, dural ectasia, or ballooning of the dural sac at the lumbosacral level, may also occur.

In the past, the life expectancy of individuals with Marfan’s syndrome was around 40-50 years. However, with regular echocardiography monitoring and the use of beta-blockers and ACE inhibitors, this has improved significantly in recent years. Despite these improvements, aortic dissection and other cardiovascular problems remain the leading cause of death in individuals with Marfan’s syndrome.

Differential Diagnosis for a Painful Submandibular Swelling

One possible diagnosis for a painful submandibular swelling is sialolithiasis, which is the formation of stones within the salivary glands. This condition is more common in men over 40 and typically causes pain and swelling after eating. Adenoid cystic carcinoma, on the other hand, presents as a slowly enlarging mass over the parotid area and can invade local structures such as the facial nerve. Pleomorphic adenomas usually present as a painless lump that slowly enlarges, while Sjögren syndrome causes dry mouth, dry eyes, and swelling of the salivary glands bilaterally. Warthin’s tumour, which is commonly found in the tail of the parotid gland, does not typically present as a painful lump.

Differentiating Vertigo Conditions: Ménière’s Disease, Benign Paroxysmal Positional Vertigo, Central Vertigo, Labyrinthitis, and Vestibular Neuronitis

Vertigo is a common symptom that can be caused by various conditions. Ménière’s disease, for instance, is characterized by fluctuant hearing loss, vertigo, tinnitus, and aural fullness. Patients are advised to undergo vestibular rehabilitation and avoid risky activities. Prochlorperazine is recommended for acute attacks, while betahistine is used for preventive treatment. Benign paroxysmal positional vertigo, on the other hand, presents with brief episodes of vertigo triggered by movement, without tinnitus, hearing loss, or ear fullness. Central vertigo has a sudden onset, constant symptoms, and possible neurological abnormalities, requiring urgent hospital admission. Labyrinthitis causes acute vertigo and hearing loss, but the presence of ear fullness suggests Ménière’s disease. Vestibular neuronitis, caused by viral infection, results in isolated and prolonged episodes of vertigo without tinnitus or ear fullness. Accurate diagnosis and appropriate management are crucial in addressing vertigo and its underlying conditions.

Immediate CT scan is necessary to evaluate for raised intracranial pressure and tentorial herniation in a patient with a sluggishly responsive unilaterally dilated pupil. This is the most pressing concern, given the patient’s reduced GCS. Although other investigations will be necessary, the CT brain is the most critical test, as the patient may require urgent neurosurgical intervention to save their life.

Patients with head injuries should be managed according to ATLS principles and extracranial injuries should be managed alongside cranial trauma. There are different types of traumatic brain injuries, including extradural hematoma, subdural hematoma, and subarachnoid hemorrhage. Primary brain injury may be focal or diffuse, and secondary brain injury can occur due to cerebral edema, ischemia, infection, or herniation. Management may include IV mannitol/frusemide, decompressive craniotomy, and ICP monitoring. Pupillary findings can provide information on the location and severity of the injury.

The patient’s elevated CK levels and urine test indicating blood without cells strongly suggest rhabdomyolysis as the cause of their kidney failure, likely due to their fall and prolonged time on the floor. Treatment should focus on managing hyperkalemia and ensuring proper hydration. While acute myocardial infarction cannot be ruled out entirely, the absence of discolored urine and other symptoms make rhabdomyolysis a more likely diagnosis. Acute tubular necrosis is also unlikely, as there are no epithelial cells present on urinalysis. While sepsis should be considered, the presence of red-colored urine and a history of a fall make rhabdomyolysis the most probable cause. Polymyositis, a type of inflammatory myopathy, typically presents with proximal myopathy and is more commonly seen in middle-aged women.

The effectiveness of the combined oral contraceptive pill may be reduced by St John’s Wort, which is an enzyme inducer that speeds up the metabolism of the pill in the liver’s P450 enzyme system.

P450 Enzyme System and its Inducers and Inhibitors

The P450 enzyme system is responsible for metabolizing drugs in the body. Induction of this system usually requires prolonged exposure to the inducing drug, unlike P450 inhibitors, which have rapid effects. Some drugs that induce the P450 system include antiepileptics like phenytoin and carbamazepine, barbiturates such as phenobarbitone, rifampicin, St John’s Wort, chronic alcohol intake, griseofulvin, and smoking, which affects CYP1A2 and is the reason why smokers require more aminophylline.

On the other hand, some drugs inhibit the P450 system, including antibiotics like ciprofloxacin and erythromycin, isoniazid, cimetidine, omeprazole, amiodarone, allopurinol, imidazoles such as ketoconazole and fluconazole, SSRIs like fluoxetine and sertraline, ritonavir, sodium valproate, and acute alcohol intake. It is important to be aware of these inducers and inhibitors as they can affect the metabolism and efficacy of drugs in the body. Proper dosing and monitoring can help ensure safe and effective treatment.

The FSRH uses a scale of 1 to 4 to categorize risk factors for contraceptive methods. A rating of 1 indicates no restrictions on use, while a rating of 4 indicates a condition that poses an unacceptable risk if the contraceptive method is used. Migraine with aura is the only absolute contraindication among the answer options. Ratings of 2 and 3 indicate that the advantages and risks of the contraceptive method should be carefully considered and evaluated by a clinical expert.

The decision to prescribe the combined oral contraceptive pill is now based on the UK Medical Eligibility Criteria (UKMEC), which categorizes potential contraindications and cautions on a four-point scale. UKMEC 1 indicates no restrictions for use, while UKMEC 2 suggests that the benefits outweigh the risks. UKMEC 3 indicates that the disadvantages may outweigh the advantages, and UKMEC 4 represents an unacceptable health risk. Examples of UKMEC 3 conditions include controlled hypertension, a family history of thromboembolic disease in first-degree relatives under 45 years old, and current gallbladder disease. Examples of UKMEC 4 conditions include a history of thromboembolic disease or thrombogenic mutation, breast cancer, and uncontrolled hypertension. Diabetes mellitus diagnosed over 20 years ago is classified as UKMEC 3 or 4 depending on severity. In 2016, breast feeding between 6 weeks and 6 months postpartum was changed from UKMEC 3 to UKMEC 2.

In the case of a non-shockable rhythm, it is crucial to administer adrenaline as soon as possible according to the ALS protocol. This should be done immediately and during alternate cycles. However, if the rhythm is shockable, adrenaline should be given after the third shock and then during alternate cycles. Amiodarone should be administered after the third shock, and a second dose may be considered after five shocks. Therefore, the other options are not appropriate.

The 2015 Resus Council guidelines for adult advanced life support outline the steps to be taken when dealing with patients with shockable and non-shockable rhythms. For both types of patients, chest compressions are a crucial part of the process, with a ratio of 30 compressions to 2 ventilations. Defibrillation is recommended for shockable rhythms, with a single shock for VF/pulseless VT followed by 2 minutes of CPR. Adrenaline and amiodarone are the drugs of choice for non-shockable rhythms, with adrenaline given as soon as possible and amiodarone administered after 3 shocks for VF/pulseless VT. Thrombolytic drugs should be considered if a pulmonary embolus is suspected. Atropine is no longer recommended for routine use in asystole or PEA. Oxygen should be titrated to achieve saturations of 94-98% following successful resuscitation. The Hs and Ts should be considered as potential reversible causes of cardiac arrest.

Phenytoin: Mechanism of Action and Adverse Effects

Phenytoin is a medication used to manage seizures. Its mechanism of action involves binding to sodium channels, which increases their refractory period. However, the drug is associated with a large number of adverse effects, which can be categorized as acute, chronic, idiosyncratic, and teratogenic. Acute effects include dizziness, diplopia, nystagmus, slurred speech, ataxia, confusion, and seizures. Chronic effects include gingival hyperplasia, hirsutism, coarsening of facial features, drowsiness, megaloblastic anemia, peripheral neuropathy, enhanced vitamin D metabolism causing osteomalacia, lymphadenopathy, and dyskinesia. Idiosyncratic effects include fever, rashes, hepatitis, Dupuytren’s contracture, aplastic anemia, and drug-induced lupus. Teratogenic effects are associated with cleft palate and congenital heart disease. Although routine monitoring of phenytoin levels is not necessary, trough levels should be checked before dosing in cases of dose adjustment, suspected toxicity, or non-adherence to the prescribed medication.

The presence of antihistone antibodies is linked to drug-induced lupus, which is the likely cause of the patient’s symptoms. One of the drugs she was taking, isoniazid, is known to cause this condition. Rheumatoid factor is typically found in patients with rheumatoid arthritis, while anti Jo-1 antibody is associated with polymyositis and anti-Scl70 antibody is linked to diffuse systemic sclerosis.

Understanding Drug-Induced Lupus

Drug-induced lupus is a condition that shares some similarities with systemic lupus erythematosus, but not all of its typical features are present. Unlike SLE, renal and nervous system involvement is rare in drug-induced lupus. The good news is that this condition usually resolves once the drug causing it is discontinued.

The most common symptoms of drug-induced lupus include joint pain, muscle pain, skin rashes (such as the malar rash), and pulmonary issues like pleurisy. In terms of laboratory findings, patients with drug-induced lupus typically test positive for ANA (antinuclear antibodies) but negative for dsDNA (double-stranded DNA) antibodies. Anti-histone antibodies are found in 80-90% of cases, while anti-Ro and anti-Smith antibodies are only present in around 5% of cases.

The most common drugs that can cause drug-induced lupus are procainamide and hydralazine. Other less common culprits include isoniazid, minocycline, and phenytoin.

Sexually Transmitted Infections: Differential Diagnosis

Sexually transmitted infections (STIs) are a common cause of morbidity worldwide. When evaluating a patient with symptoms suggestive of an STI, it is important to consider a broad differential diagnosis. Here are some common STIs and their clinical presentations:

Gonorrhoea: This is a purulent infection of the mucous membranes caused by Neisseria gonorrhoeae. In men, symptoms include urethritis, acute epididymitis, and rectal infection. A diagnosis can be made by identifying typical Gram-negative intracellular diplococci after a Gram stain.

Crohn’s disease: This is an inflammatory bowel disease that presents with prolonged diarrhea, abdominal pain, anorexia, and weight loss. It is not consistent with a typical STI presentation.

Candidiasis: This is a fungal infection caused by yeasts from the genus Candida. It is associated with balanitis, presenting with penile pruritus and whitish patches on the penis.

Salmonella infection: This is often transmitted orally via contaminated food or beverages. Symptoms include a severe non-specific febrile illness, which can be confused with typhoid fever. There is nothing in this clinical scenario to suggest Salmonella infection.

Chancroid: This is a bacterial STI caused by Haemophilus ducreyi. It is characterised by painful necrotising genital ulcers and inguinal lymphadenopathy.

In summary, a thorough differential diagnosis is important when evaluating patients with symptoms suggestive of an STI.

GBS bacteriuria is linked to an increased risk of chorioamnionitis and neonatal sepsis, therefore, the Royal College of Obstetricians and Gynaecologists recommends that women with GBS bacteriuria should receive intrapartum antibiotics along with appropriate treatment upon diagnosis. In cases where the patient is not allergic to penicillin, intravenous benzylpenicillin should be administered as soon as possible after the onset of labor and then every 4 hours until delivery. Postnatal antibiotic treatment is not necessary unless there are indications of neonatal infection. Caesarean section is not recommended. [RCOG Green-top Guideline No. 36]

Group B Streptococcus (GBS) is a common cause of severe infection in newborns. It is estimated that 20-40% of mothers carry GBS in their bowel flora, which can be passed on to their infants during labor and lead to serious infections. Prematurity, prolonged rupture of membranes, previous sibling GBS infection, and maternal pyrexia are all risk factors for GBS infection. The Royal College of Obstetricians and Gynaecologists (RCOG) has published guidelines on GBS management, which include not offering universal screening for GBS to all women and not offering screening based on maternal request. Women who have had GBS detected in a previous pregnancy should be offered intrapartum antibiotic prophylaxis (IAP) or testing in late pregnancy and antibiotics if still positive. IAP should also be offered to women with a previous baby with GBS disease, women in preterm labor, and women with a fever during labor. Benzylpenicillin is the preferred antibiotic for GBS prophylaxis.

If a lung abscess is not responding to intravenous antibiotics, percutaneous drainage should be considered as an option.

Correct: Arrange CT-guided percutaneous drainage. This is because the patient’s symptoms, such as swinging fevers, night sweats, pleuritic chest pain, dyspnoea, and cough, are consistent with a lung abscess. The chest x-ray also supports this diagnosis by showing a fluid-filled space within an area of consolidation. If IV antibiotics are not effective, percutaneous drainage can be guided by a CT scan or ultrasound. IV antibiotics may not be able to penetrate the abscess wall, which is why some patients do not respond to this treatment.

Incorrect: Arrange bronchoscopy. This is not commonly used for lung abscesses and is only indicated if an underlying tumour or foreign body is suspected. It is performed for diagnosis only, not drainage.

Incorrect: Arrange sputum cytology. Sputum cultures have already been collected, and a diagnosis of lung abscess has been established. This option could be considered later if the patient still does not respond to treatment to rule out an underlying malignancy.

Incorrect: Prescribe broad-spectrum IV antibiotics. This option is unlikely to be effective since the patient has already received IV antibiotics without success. The next step would be to manually drain the abscess.

Understanding Lung Abscess

A lung abscess is a localized infection that occurs within the lung tissue. It is commonly caused by aspiration pneumonia, which can be triggered by poor dental hygiene, reduced consciousness, or previous stroke. Other potential causes include haematogenous spread, direct extension, and bronchial obstruction. The infection is typically polymicrobial, with Staphylococcus aureus, Klebsiella pneumonia, and Pseudomonas aeruginosa being the most common monomicrobial causes.

The symptoms of lung abscess are similar to pneumonia, but they tend to develop more slowly over several weeks. Patients may experience fever, productive cough, foul-smelling sputum, chest pain, and dyspnea. Some may also have systemic features such as night sweats and weight loss, while a minority may experience haemoptysis. Physical examination may reveal dull percussion and bronchial breathing, as well as clubbing in some cases.

To diagnose lung abscess, a chest x-ray is usually performed, which shows a fluid-filled space within an area of consolidation. Sputum and blood cultures should also be obtained to identify the causative organism. Treatment typically involves intravenous antibiotics, but if the infection does not resolve, percutaneous drainage or surgical resection may be required in rare cases.

The use of hydroxychloroquine can lead to a serious and irreversible retinopathy.

Hydroxychloroquine: Uses and Adverse Effects

Hydroxychloroquine is a medication commonly used in the treatment of rheumatoid arthritis and systemic/discoid lupus erythematosus. It is similar to chloroquine, which is used to treat certain types of malaria. However, hydroxychloroquine has been found to cause bull’s eye retinopathy, which can result in severe and permanent visual loss. Recent data suggests that this adverse effect is more common than previously thought, and the most recent guidelines recommend baseline ophthalmological examination and annual screening, including colour retinal photography and spectral domain optical coherence tomography scanning of the macula. Despite this risk, hydroxychloroquine may still be used in pregnant women if needed. Patients taking this medication should be asked about visual symptoms and have their visual acuity monitored annually using a standard reading chart.

Hypertension during pregnancy is a common occurrence that requires careful management. In normal pregnancies, blood pressure tends to decrease in the first trimester and then gradually increase to pre-pregnancy levels by term. However, in cases of hypertension during pregnancy, the systolic blood pressure is usually above 140 mmHg or the diastolic blood pressure is above 90 mmHg. Additionally, an increase of more than 30 mmHg systolic or 15 mmHg diastolic from the initial readings may also indicate hypertension.

There are three categories of hypertension during pregnancy: pre-existing hypertension, pregnancy-induced hypertension (PIH), and pre-eclampsia. Pre-existing hypertension refers to a history of hypertension before pregnancy or elevated blood pressure before 20 weeks gestation. PIH occurs in the second half of pregnancy and resolves after birth. Pre-eclampsia is characterized by hypertension and proteinuria, and may also involve edema.

The management of hypertension during pregnancy involves the use of antihypertensive medications such as labetalol, nifedipine, and hydralazine. In cases of pre-existing hypertension, ACE inhibitors and angiotensin II receptor blockers should be stopped immediately and alternative medications should be prescribed. Women who are at high risk of developing pre-eclampsia should take aspirin from 12 weeks until the birth of the baby. It is important to carefully monitor blood pressure and proteinuria levels during pregnancy to ensure the health of both the mother and the baby.

Common Autoantibody Tests for Diagnosing Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect various organs and tissues in the body. The diagnosis of SLE can be challenging due to its diverse clinical manifestations and the absence of a specific diagnostic test. However, several autoantibodies have been identified in patients with SLE, and their detection can aid in the diagnosis and management of the disease. Here are some common autoantibody tests used for diagnosing SLE:

Anti-nuclear antibody (ANA): This is the most commonly used screening test for SLE. ANA is present in 98% of patients with SLE, but it can also be positive in other autoimmune and non-autoimmune conditions.

Anti-citrulline antibodies (anti-CCP): This test has the highest specificity for rheumatoid arthritis and is not appropriate for diagnosing SLE.

Anti-double-stranded deoxyribonucleic acid (anti-dsDNA): This test is positive in 70% of patients with SLE and is more specific for SLE than ANA. The presence of anti-dsDNA, anti-sm, and antiphospholipid antibodies is more specific for diagnosing SLE.

Anti-smooth muscle autoantibodies (anti-sm): This test is positive in 25% of patients with SLE and is more specific for SLE than ANA. The presence of anti-dsDNA, anti-sm, and antiphospholipid antibodies is more specific for diagnosing SLE.

Rheumatoid factor: This test is used for investigating rheumatoid arthritis and is not appropriate for diagnosing SLE.

In summary, the detection of autoantibodies can be helpful in diagnosing SLE, but the interpretation of the results should be done in the context of the patient’s clinical presentation and other laboratory tests. ANA remains the best screening test for SLE due to its high sensitivity, but the presence of other autoantibodies can increase the specificity of the diagnosis.

The National Institute for Clinical Excellence updated its guideline for hypertension management in 2011, placing emphasis on the use of ambulatory blood pressure monitoring (ABPM) to confirm hypertension in individuals with elevated clinic readings. ABPM involves taking two measurements per hour during waking hours and using the average of at least 14 measurements to confirm a diagnosis of hypertension. Secondary causes of hypertension should be investigated in patients under 40 without traditional risk factors, those with other symptoms of secondary causes, and those with resistant hypertension. Hyperaldosteronism is the most common cause of secondary hypertension, and a trial of spironolactone may be used for both therapeutic and diagnostic purposes. Drug treatment for essential hypertension involves ACE inhibitors for those under 55 and calcium channel blockers for those over 55 or of black African or Caribbean origin. Step 2 involves using both ACE inhibitors and calcium channel blockers, while step 3 adds a thiazide-like diuretic. Further diuretics, beta-blockers, or alpha blockers may be considered in step 4, with expert advice sought. For a more detailed explanation, refer to the provided link.

NICE released updated guidelines in 2019 for the management of hypertension, building on previous guidelines from 2011. These guidelines aimed to classify hypertension into stages and recommend the use of ambulatory blood pressure monitoring (ABPM) and home blood pressure monitoring (HBPM) to accurately diagnose hypertension. This is important because some patients experience white coat hypertension, where their blood pressure rises in a clinical setting, leading to potential overdiagnosis of hypertension. ABPM and HBPM allow for a more accurate assessment of a patient’s overall blood pressure and can prevent overdiagnosis.

NICE recommends measuring blood pressure in both arms when considering a diagnosis of hypertension and repeating measurements if there is a difference of more than 20 mmHg between arms. If the blood pressure is >= 140/90 mmHg, NICE suggests offering ABPM or HBPM to confirm the diagnosis. If the blood pressure is >= 180/120 mmHg, referral for specialist assessment is recommended if there are signs of retinal haemorrhage or papilloedema or life-threatening symptoms. If target organ damage is identified, antihypertensive drug treatment may be started immediately.

ABPM involves taking at least 2 measurements per hour during the person’s usual waking hours and using the average value of at least 14 measurements. If ABPM is not tolerated, HBPM should be offered. HBPM involves taking two consecutive measurements at least 1 minute apart, twice daily for at least 4 days, and using the average value of all remaining measurements.

Interpreting the results of ABPM/HBPM is important for determining treatment. If the average blood pressure is >= 135/85 mmHg (stage 1 hypertension), treatment may be considered for patients under 80 years of age with target organ damage, established cardiovascular disease, renal disease, diabetes, or a 10-year cardiovascular risk equivalent to 10% or greater. In 2019, NICE also recommended considering antihypertensive drug treatment for adults under 60 with stage 1 hypertension and an estimated 10-year risk below 10%. If the average blood pressure is >= 150/95 mmHg (stage 2 hypertension), drug treatment should be offered regardless of age.

Pregnant women at 16-32 weeks are given the option to receive the pertussis vaccine.

Whooping Cough: Causes, Symptoms, Diagnosis, and Management

Whooping cough, also known as pertussis, is a contagious disease caused by the bacterium Bordetella pertussis. It is commonly found in children, with around 1,000 cases reported annually in the UK. The disease is characterized by a persistent cough that can last up to 100 days, hence the name cough of 100 days.

Infants are particularly vulnerable to whooping cough, which is why routine immunization is recommended at 2, 3, 4 months, and 3-5 years. However, neither infection nor immunization provides lifelong protection, and adolescents and adults may still develop the disease.

Whooping cough has three phases: the catarrhal phase, the paroxysmal phase, and the convalescent phase. The catarrhal phase lasts around 1-2 weeks and presents symptoms similar to a viral upper respiratory tract infection. The paroxysmal phase is characterized by a severe cough that worsens at night and after feeding, and may be accompanied by vomiting and central cyanosis. The convalescent phase is when the cough subsides over weeks to months.

To diagnose whooping cough, a person must have an acute cough that has lasted for 14 days or more without another apparent cause, and have one or more of the following features: paroxysmal cough, inspiratory whoop, post-tussive vomiting, or undiagnosed apnoeic attacks in young infants. A nasal swab culture for Bordetella pertussis is used to confirm the diagnosis, although PCR and serology are increasingly used.

Infants under 6 months with suspected pertussis should be admitted, and in the UK, pertussis is a notifiable disease. An oral macrolide, such as clarithromycin, azithromycin, or erythromycin, is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread. Household contacts should be offered antibiotic prophylaxis, although antibiotic therapy has not been shown to alter the course of the illness. School exclusion is recommended for 48 hours after commencing antibiotics or 21 days from onset of symptoms if no antibiotics are given.

Complications of whooping cough include subconjunctival haemorrhage, pneumonia, bronchiectasis, and

Developmental dysplasia of the hip (DDH) is a condition that affects 1-3% of newborns and is more common in females, firstborn children, and those with a positive family history or breech presentation. It used to be called congenital dislocation of the hip (CDH). DDH is more often found in the left hip and can be bilateral in 20% of cases. Screening for DDH is recommended for infants with certain risk factors, and all infants are screened using the Barlow and Ortolani tests at the newborn and six-week baby check. Clinical examination includes testing for leg length symmetry, restricted hip abduction, and knee level when hips and knees are flexed. Ultrasound is used to confirm the diagnosis if clinically suspected, but x-ray is the first line investigation for infants over 4.5 months. Management includes the use of a Pavlik harness for children under 4-5 months and surgery for older children with unstable hips.

Types of Epilepsy: Characteristics and Differences

Epilepsy is a neurological disorder characterized by recurrent seizures. There are different types of epilepsy, each with its own set of clinical features and diagnostic criteria. Here are some of the most common types of epilepsy and their distinguishing characteristics:

Benign Rolandic Epilepsy (BRE)
BRE, also known as childhood epilepsy with centrotemporal spikes, is characterized by seizures that often occur during sleep or just before waking. Children may experience paraesthesia of their lips, tongue, or the inside of their mouth, which can interfere with speech and cause drooling. Twitching of one side of the mouth or face often develops, followed by twitching in the limbs on the same side. Seizures typically last less than two minutes, and the child remains conscious.

Absence Seizures
Absence seizures are a form of generalized epilepsy that impairs consciousness. Children are most commonly affected, and the seizures usually last only a few seconds but may occur many times a day. During the absence, the child stops activity and stares blankly, not responding to questions. There may be lip-smacking or facial tics. An EEG will reveal a characteristic spike-and-wave activity.

Temporal Lobe Epilepsy (TLE)
TLE is characterized by partial and/or focal seizures that may be simple or complex, with some loss of awareness. The clinical features of TLE reflect the function of the temporal lobe, primarily speech, taste, smell, and memory. Presentations may include déjà vu, gastrointestinal disturbance, amnesia during an attack, olfactory or gustatory hallucinations, and abnormal sensations crawling up the body. Repetitive vocalizations, automatism, and lip-smacking may be seen.

Juvenile Myoclonic Epilepsy (JME)
JME describes generalized epilepsy that impairs consciousness. JME usually presents in later childhood, with a peak onset at 10–16 years. The defining seizure is myoclonic and usually occurs in the first hour after waking. These seizures occur as sudden jerks, which commonly involve the arms and/or trunk. However, any muscle may be affected. The patient is generally conscious while myoclonic jerks are occurring. Generalized tonic-clonic seizures often accompany myoclonic seizures in JME, which may lead to reduced consciousness.

Infantile Spasms
Infantile spasms develop in the first year of life, with peak

Understanding Extrapyramidal Side-Effects of Antipsychotic Medications

One common extrapyramidal side-effect of antipsychotic medications is akathisia, which is characterized by a subjective feeling of restlessness and an inability to sit still. This is often seen in the legs and can be caused by first-generation typical antipsychotics like flupentixol. Treatment involves reducing or switching the medication dose.

Neuroleptic malignant syndrome is another potential side-effect that occurs within days of starting antipsychotic medication. It presents with symptoms such as pyrexia, muscle rigidity, autonomic lability, and confusion. Rapid diagnosis and treatment with fluids, cooling, benzodiazepines, and dantrolene are necessary.

Acute dystonic reactions, such as torticollis, oculogyric crises, and trismus, can occur within hours to days of taking antipsychotic medications. These extrapyramidal side-effects are more common in first-generation typical antipsychotics due to their increased anti-dopaminergic activity. Treatment may involve anticholinergic drugs like procyclidine.

Parkinsonism refers to features associated with antipsychotic medication that are essentially the same as iatrogenic Parkinsonism, including joint rigidity, bradykinesia, and tremor. These symptoms are more common in first-generation typical antipsychotics.

Finally, tardive dyskinesia is a late-onset movement disorder that can occur after long-term use of antipsychotics. It presents with involuntary movements such as lip-smacking and grimacing. While this patient may have been on flupentixol for a long time, they do not present with these symptoms.

In certain studies, it has been demonstrated that fibre supplementation is equally effective to injection sclerotherapy.

Understanding Haemorrhoids

Haemorrhoids are a normal part of the anatomy that contribute to anal continence. They are mucosal vascular cushions found in specific areas of the anal canal. However, when they become enlarged, congested, and symptomatic, they are considered haemorrhoids. The most common symptom is painless rectal bleeding, but pruritus and pain may also occur. There are two types of haemorrhoids: external, which originate below the dentate line and are prone to thrombosis, and internal, which originate above the dentate line and do not generally cause pain. Internal haemorrhoids are graded based on their prolapse and reducibility. Management includes softening stools through dietary changes, topical treatments, outpatient procedures like rubber band ligation, and surgery for large, symptomatic haemorrhoids. Acutely thrombosed external haemorrhoids may require excision if the patient presents within 72 hours, but otherwise can be managed with stool softeners, ice packs, and analgesia.

Overall, understanding haemorrhoids and their management is important for individuals experiencing symptoms and healthcare professionals providing care.

Understanding the Association between H. pylori Infection and Gastric Diseases

H. pylori infection is a common bacterial infection that affects approximately 50% of the global population. While it is primarily associated with peptic ulcer disease, it can also lead to other gastric diseases. Gastric malignancies, for instance, are often caused by chronic inflammation of MALT from H. pylori infection. MALTomas, which are extranodal marginal zone B-cell lymphomas, are the most common type of gastric lymphoma and are associated with H. pylori infection in over 90% of cases.

However, not all gastric diseases are associated with H. pylori infection. Coeliac disease, for example, is an autoimmune disorder related to gluten sensitivity. Non-ulcer dyspepsia, a group of upper gastrointestinal symptoms, is not generally associated with H. pylori infection. Reflux oesophagitis, a condition caused by the failure of relaxation of the lower end of the oesophagus, is also not associated with H. pylori infection.

It is important to note that the development of gastric malignancies from H. pylori infection is a slow process that may stop at any step. The disease process starts with chronic gastritis, followed by atrophic gastritis, intestinal metaplasia, dysplasia, and eventually gastric malignancy (Correa’s cascade). However, other factors are also required for gastric cancers to develop, not just H. pylori infection.

In conclusion, understanding the association between H. pylori infection and gastric diseases is crucial in the diagnosis and treatment of these conditions. While H. pylori infection is a common cause of gastric malignancies, it is not associated with all gastric diseases.

Immediate percutaneous coronary intervention with aspirin, clopidogrel, and IV heparin is recommended.

Myocardial infarction, specifically ST-elevation myocardial infarction (STEMI), can be managed using evidence-based approaches. Patients without contraindications should be given aspirin and a P2Y12-receptor antagonist, with ticagrelor being preferred over clopidogrel due to improved outcomes despite slightly higher bleeding rates. Unfractionated heparin is typically given to patients undergoing percutaneous coronary intervention (PCI), but low-molecular weight heparin can also be used. Oxygen therapy should not be routinely administered, but supplemental oxygen can be given to patients with oxygen saturation levels below 94% or those with chronic obstructive pulmonary disease at risk of hypercapnic respiratory failure.

Primary PCI is the preferred treatment for STEMI, but it may not be available in all centers. Thrombolysis can be performed in patients without access to primary PCI, with tissue plasminogen activator (tPA) offering clear mortality benefits over streptokinase. Tenecteplase is easier to administer and has non-inferior efficacy to alteplase with a similar adverse effect profile. An ECG should be performed 90 minutes following thrombolysis to assess whether there has been a greater than 50% resolution in the ST elevation. If there has not been adequate resolution, rescue PCI is superior to repeat thrombolysis. For patients successfully treated with thrombolysis, PCI has been shown to be beneficial, but the optimal timing is still being investigated.

For patients with diabetes mellitus, NICE recommends using a dose-adjusted insulin infusion with regular monitoring of blood glucose levels to keep glucose below 11.0 mmol/l. Intensive insulin therapy regimes are not recommended routinely.

This individual displays several indicators of red flag sepsis, such as confusion, hypotension, and elevated respiratory rate. It is imperative to initiate the sepsis 6 protocol.
According to the NICE guidelines for sepsis, when administering intravenous fluid resuscitation to patients aged 16 and above, it is recommended to use crystalloids containing sodium levels between 130-154 mmol/litre, with a 500 ml bolus administered in less than 15 minutes.

Understanding Sepsis: Classification and Management

Sepsis is a life-threatening condition caused by a dysregulated host response to an infection. In recent years, the classification of sepsis has changed, with the old category of severe sepsis no longer in use. Instead, the Surviving Sepsis Guidelines now recognize sepsis as life-threatening organ dysfunction caused by a dysregulated host response to infection, and septic shock as a more severe form of sepsis. The term ‘systemic inflammatory response syndrome (SIRS)’ has also fallen out of favor.

To manage sepsis, it is important to identify and treat the underlying cause of the infection and support the patient regardless of the cause or severity. However, if any red flags are present, the ‘sepsis six’ should be started immediately. This includes administering oxygen, taking blood cultures, giving broad-spectrum antibiotics, giving intravenous fluid challenges, measuring serum lactate, and measuring accurate hourly urine output.

NICE released its own guidelines in 2016, which focus on the risk stratification and management of patients with suspected sepsis. For risk stratification, NICE recommends using red flag and amber flag criteria. If any red flags are present, the sepsis six should be started immediately. If any amber flags are present, the patient should be closely monitored and managed accordingly.

To help identify and categorize patients, the Sequential (Sepsis-Related) Organ Failure Assessment Score (SOFA) is increasingly used. The score grades abnormality by organ system and accounts for clinical interventions. A SOFA score of 2 or more reflects an overall mortality risk of approximately 10% in a general hospital population with suspected infection. Even patients presenting with modest dysfunction can deteriorate further, emphasizing the seriousness of this condition and the need for prompt and appropriate intervention.

Understanding Holmes-Adie Pupil

Holmes-Adie pupil is a condition that is more commonly observed in women and is considered a benign condition. It is one of the possible causes of a dilated pupil. In about 80% of cases, it affects only one eye. The main characteristic of this condition is a dilated pupil that remains small for an unusually long time after it has constricted. The pupil also reacts slowly to accommodation but poorly or not at all to light.

Holmes-Adie syndrome is a condition that is associated with Holmes-Adie pupil. It is characterized by the absence of ankle and knee reflexes. This condition is not harmful and does not require any treatment.

Bacterial vaginosis during pregnancy can lead to various pregnancy-related issues, such as preterm labor. In the past, it was advised to avoid taking oral metronidazole during the first trimester. However, current guidelines suggest that it is safe to use throughout the entire pregnancy. For more information, please refer to the Clinical Knowledge Summary provided.

Bacterial vaginosis (BV) is a condition where there is an overgrowth of anaerobic organisms, particularly Gardnerella vaginalis, in the vagina. This leads to a decrease in the amount of lactobacilli, which produce lactic acid, resulting in an increase in vaginal pH. BV is not a sexually transmitted infection, but it is commonly seen in sexually active women. Symptoms include a fishy-smelling vaginal discharge, although some women may not experience any symptoms at all. Diagnosis is made using Amsel’s criteria, which includes the presence of thin, white discharge, clue cells on microscopy, a vaginal pH greater than 4.5, and a positive whiff test. Treatment involves oral metronidazole for 5-7 days, with a cure rate of 70-80%. However, relapse rates are high, with over 50% of women experiencing a recurrence within 3 months. Topical metronidazole or clindamycin may be used as alternatives.

Bacterial vaginosis during pregnancy can increase the risk of preterm labor, low birth weight, chorioamnionitis, and late miscarriage. It was previously recommended to avoid oral metronidazole in the first trimester and use topical clindamycin instead. However, recent guidelines suggest that oral metronidazole can be used throughout pregnancy. The British National Formulary (BNF) still advises against using high-dose metronidazole regimes. Clue cells, which are vaginal epithelial cells covered with bacteria, can be seen on microscopy in women with BV.

The patient’s hypertension is not well controlled despite being on the maximum dose of a calcium-channel blocker. According to NICE guidance, the next step in treatment should be a thiazide-like diuretic or an ACE inhibitor. However, as the patient has a history of recurrent gout, a diuretic is not advisable, and an ACE inhibitor such as ramipril is the most appropriate choice.

Aspirin 75 mg was previously recommended for primary prevention of cardiovascular disease in patients with multiple risk factors. However, current advice is to only consider prescribing aspirin after a careful risk assessment in patients with a high risk of stroke or myocardial infarction. Routine prescribing of antiplatelets for primary prevention is no longer recommended due to the risk of gastrointestinal bleed outweighing the benefits.

NICE no longer recommends initiating thiazide diuretics for hypertension treatment. Patients already established on this medication and whose BP is well controlled should continue. However, thiazide-like diuretics or ACE inhibitors are preferred as second-line treatment for hypertension in patients already on a calcium-channel blocker.

Diltiazem and amlodipine are both calcium-channel blockers, and medication from a different class of antihypertensives should be added.

Indapamide is a thiazide-like diuretic recommended as a second-line treatment for hypertension not controlled on the maximum dose of a calcium-channel blocker. However, as the patient has a history of recurrent gout, which can be exacerbated by thiazide and thiazide-like diuretics, an ACE inhibitor would be a more suitable choice.

When a condition has low genetic penetrance, it may not show many clinical signs or symptoms, and the patient may appear normal, despite having an abnormal genetic profile. This is because the severity of the phenotype is determined by the penetrance of the genotype. If the condition has high penetrance, the phenotype is more likely to be expressed, resulting in more signs and symptoms.

Autosomal Dominant Diseases: Characteristics and Complicating Factors

Autosomal dominant diseases are genetic disorders that are inherited from one parent who carries the abnormal gene. In these diseases, both homozygotes and heterozygotes manifest the disease, and both males and females can be affected. The disease is passed on to 50% of children, and it normally appears in every generation. The risk remains the same for each successive pregnancy.

However, there are complicating factors that can affect the expression of the disease. Non-penetrance is a phenomenon where an individual carries the abnormal gene but does not show any clinical signs or symptoms of the disease. For example, 40% of individuals with otosclerosis do not show any symptoms despite carrying the abnormal gene. Another complicating factor is spontaneous mutation, where a new mutation occurs in one of the gametes. This can result in the disease appearing in a child even if both parents do not carry the abnormal gene. For instance, 80% of individuals with achondroplasia have unaffected parents.

In summary, autosomal dominant diseases have distinct characteristics such as their inheritance pattern and the fact that affected individuals can pass on the disease. However, complicating factors such as non-penetrance and spontaneous mutation can affect the expression of the disease and make it more difficult to predict its occurrence.

Monitoring is crucial for detecting the life-threatening side effect of clozapine, which is agranulocytosis/neutropenia.

Atypical antipsychotics are now recommended as the first-line treatment for patients with schizophrenia, as per the 2005 NICE guidelines. These medications have the advantage of significantly reducing extrapyramidal side-effects. However, they can also cause adverse effects such as weight gain, hyperprolactinaemia, and in the case of clozapine, agranulocytosis. The Medicines and Healthcare products Regulatory Agency has issued warnings about the increased risk of stroke and venous thromboembolism when antipsychotics are used in elderly patients. Examples of atypical antipsychotics include clozapine, olanzapine, risperidone, quetiapine, amisulpride, and aripiprazole.

Clozapine, one of the first atypical antipsychotics, carries a significant risk of agranulocytosis and requires full blood count monitoring during treatment. Therefore, it should only be used in patients who are resistant to other antipsychotic medication. The BNF recommends introducing clozapine if schizophrenia is not controlled despite the sequential use of two or more antipsychotic drugs, one of which should be a second-generation antipsychotic drug, each for at least 6-8 weeks. Adverse effects of clozapine include agranulocytosis, neutropaenia, reduced seizure threshold, constipation, myocarditis, and hypersalivation. Dose adjustment of clozapine may be necessary if smoking is started or stopped during treatment.

Understanding Hair Loss: Causes and Symptoms

Hair loss is a common concern for many individuals, causing anxiety and worry. There are various causes of hair loss, each with their own unique symptoms. Alopecia areata is a chronic inflammatory disease that affects the hair follicles, resulting in patchy, non-scarring hair loss on the scalp. Androgenic alopecia, on the other hand, is more common in men and causes a receding hairline and loss of hair from the top and front of the head. Fungal infections, such as tinea capitis, can also cause hair loss accompanied by scaling, itching, and pain. Scalp psoriasis can range from mild scaling to severe crusted plaques covering the entire scalp, while erosive pustular dermatosis of the scalp affects elderly individuals with scarring and yellow-brown crusts. It is important to understand the various causes and symptoms of hair loss in order to properly diagnose and treat the condition.