The patient has raised liver transaminases, thrombocytosis, neutrophilia, raised antistreptolysin titres, and a reduced estimated glomerular filtration rate (eGFR). The most probable diagnosis is glandular fever/infectious mononucleosis caused by the Epstein-Barr virus (EBV). This infection is common in adolescents and presents with a prolonged sore throat, lethargy, and flu-like symptoms. Splenomegaly or hepatosplenomegaly, along with lymphadenopathy, are often observed. Liver function tests, especially the transaminases, are commonly elevated during active infection. Thrombocytopenia is commonly associated with glandular fever due to splenic involvement. Neutrophilia is less likely in this case than lymphocytosis, which is common with glandular fever. Antistreptolysin titres rise after a streptococcal infection, but glandular fever is a more likely diagnosis than streptococcal infection. Reduced eGFR associated with a sore throat should raise suspicion of dehydration or glomerulonephritis caused by a streptococcal infection, but neither of these diagnoses is as likely as glandular fever. The diagnostic investigation of choice for glandular fever is the Monospot test, which tests for heterophile antibodies to EBV.

The use of clindamycin as a treatment is strongly linked to an increased likelihood of contracting C. difficile.

Clostridioides difficile is a type of bacteria that is commonly found in hospitals. It is a Gram positive rod that produces an exotoxin which can cause damage to the intestines, leading to a condition called pseudomembranous colitis. This bacteria usually develops when the normal gut flora is suppressed by broad-spectrum antibiotics, with second and third generation cephalosporins being the leading cause of C. difficile. Other risk factors include proton pump inhibitors. Symptoms of C. difficile include diarrhea, abdominal pain, and a raised white blood cell count. The severity of the infection can be determined using the Public Health England severity scale, which ranges from mild to life-threatening.

To diagnose C. difficile, a stool sample is tested for the presence of C. difficile toxin (CDT). Treatment for a first episode of C. difficile infection typically involves oral vancomycin for 10 days, with fidaxomicin or a combination of oral vancomycin and IV metronidazole being used as second and third-line therapies. Recurrent infections occur in around 20% of patients, increasing to 50% after their second episode. In such cases, oral fidaxomicin is recommended within 12 weeks of symptom resolution, while oral vancomycin or fidaxomicin can be used after 12 weeks. For life-threatening C. difficile infections, oral vancomycin and IV metronidazole are used, and surgery may be considered with specialist advice. Other therapies, such as bezlotoxumab and fecal microbiota transplant, may also be considered for preventing recurrences in certain cases.

Patients diagnosed with superficial thrombophlebitis in the long saphenous vein should undergo an ultrasound scan to rule out the possibility of an underlying DVT. While this condition is typically harmless and can be treated with NSAIDs and compression, it carries a risk of DVT and subsequent PE. Therefore, it is recommended that patients with proximal long saphenous vein thrombophlebitis undergo an ultrasound to exclude DVT.

In this case, there are no indications of PE or respiratory symptoms, so a CTPA or chest X-ray is not necessary. While a D-dimer test is typically used to diagnose DVT, it is not useful in the presence of superficial thrombophlebitis. As a result, the guideline is to proceed directly to venous ultrasound.

The risk factors for superficial thrombophlebitis are the same as those for DVT/PE, such as female sex, prolonged immobility, obesity, and cancer. While checking blood lipid levels may be relevant, it is not a primary concern as this is a thrombotic rather than an atherosclerotic process.

Superficial thrombophlebitis is inflammation associated with thrombosis of a superficial vein, usually the long saphenous vein of the leg. Around 20% of cases have an underlying deep vein thrombosis (DVT) and 3-4% may progress to a DVT if untreated. Treatment options include NSAIDs, topical heparinoids, compression stockings, and low-molecular weight heparin. Patients with clinical signs of superficial thrombophlebitis affecting the proximal long saphenous vein should have an ultrasound scan to exclude concurrent DVT. Patients with superficial thrombophlebitis at, or extending towards, the sapheno-femoral junction can be considered for therapeutic anticoagulation for 6-12 weeks.

Physiological Changes in Cardiovascular System During Pregnancy

During pregnancy, the cardiovascular system undergoes significant changes to accommodate the growing fetus. These changes include a drop in diastolic blood pressure by 10 mmHg during the second trimester, circulating blood volume increases by approximately 50%, leading to a dilutional ‘physiological anaemia’ and cardiac output increases most sharply throughout the first trimester.

During pregnancy, heart rate progressively increases until reaching a peak in the third trimester. The overall change in heart rate represents approximately a 20–25% increase from baseline. However, a grade 2/6 diastolic murmur at the mitral area and pulsus alternans are not typical findings in a healthy pregnancy. It is important for healthcare providers to be aware of these physiological changes to properly monitor and manage the health of pregnant individuals.

Diagnosis and Investigation of Coeliac Disease

Coeliac disease is a possible diagnosis in patients presenting with chronic diarrhoea and steatorrhoea. The initial investigation of choice is the anti-tissue transglutaminase (anti-TTG) test, which has a sensitivity of over 96%. However, it is important to check immunoglobulin A (IgA) levels concurrently, as anti-TTG is an IgA antibody and may not be raised in the presence of IgA deficiency.

The treatment of choice for coeliac disease is a lifelong gluten-free diet, avoiding gluten-containing foods such as wheat, barley, rye, and oats. Patients with coeliac disease are at increased risk of small bowel lymphoma and oesophageal carcinoma over the long term.

While faecal fat estimation may be useful in estimating steatorrhoea, small bowel biopsy is the gold standard investigation for coeliac disease. However, this would not be the initial investigation of choice as it is invasive. An anti-TTG test is more sensitive and specific than an anti-gliadin test in untreated coeliac disease. Magnesium (Mg2+) levels may be abnormal in coeliac disease, but this would not be diagnostic and therefore not the first investigation of choice.

In summary, the diagnosis of coeliac disease requires a combination of clinical presentation, laboratory investigations, and small bowel biopsy if necessary. The anti-TTG test is the initial investigation of choice, and a gluten-free diet is the treatment of choice.

Managing Eczema in Children: Treatment Options and Considerations

Eczema is a common condition in children that can be effectively managed with the right treatment approach. When a child presents with eczema symptoms, the first step is often to use emollient cream to moisturize the affected area. However, if the symptoms persist or worsen, a topical corticosteroid cream may be prescribed to help manage the flare-up. It is important to use this medication sparingly and in conjunction with emollients.

If the eczema symptoms continue to be troublesome despite these measures, it may be appropriate to refer the child to a dermatology clinic. However, it is important to note that oral corticosteroids should be used with caution in children and only under the direction of a dermatologist.

While emollient creams are often effective, in some cases, an emollient ointment may be more moisturizing and helpful. However, if the eczema flare-up is not resolving with emollients alone, a short course of topical corticosteroid is likely necessary.

Watchful waiting is not appropriate in this situation, as the child has already presented to the GP and symptoms are worsening despite reasonable management by the mother. By understanding the various treatment options and considerations for managing eczema in children, healthcare providers can help ensure the best possible outcomes for their patients.

Understanding Conduct Disorder and Differential Diagnoses

Conduct disorder is a psychiatric condition characterized by persistent and severe antisocial behaviors that violate social norms and the rights of others. These behaviors may include excessive fighting, cruelty to people or animals, destruction of property, persistent disobedience, and repeated lying. However, conduct disorder can be easily confused with other psychiatric conditions that present with similar symptoms. Here are some differential diagnoses to consider:

Depression: While depressive disorders can present with oppositional symptoms, they are usually accompanied by disturbances to appetite, sleep, and anhedonia, which are not seen in conduct disorder. However, depression can coexist with conduct disorder.

Adjustment reaction: Conduct disturbance can also be a reaction to an external stressor, such as divorce, bereavement, abuse, or trauma. However, these symptoms usually occur within three months of the stressor and can last up to six months. If there is no mention of an external stressor, conduct disorder is more likely.

Attention-deficit hyperactivity disorder (ADHD): Children with ADHD exhibit symptoms of inattention associated with hyperactivity and impulsiveness, which can affect social and academic functioning. However, unlike conduct disorder, these behaviors do not usually violate societal norms or the rights of others. ADHD can also coexist with conduct disorder.

Autism spectrum disorder: Children with autism spectrum disorder may present with emotional lability, aggressive outbursts, and destructive behavior, usually in response to an unexpected change in routine or sensory overload. However, there are typical features of autism, such as sensory hypersensitivity, that are not mentioned in conduct disorder. Autism can also coexist with conduct disorder.

In conclusion, conduct disorder is a serious psychiatric condition that requires early identification and intervention. However, it is important to consider other differential diagnoses to ensure accurate diagnosis and appropriate treatment.

Crohn’s disease and ulcerative colitis are the two main types of inflammatory bowel disease with many similarities in symptoms and management options. However, there are key differences such as non-bloody diarrhea and upper gastrointestinal symptoms being more common in Crohn’s disease, while bloody diarrhea and abdominal pain in the left lower quadrant are more common in ulcerative colitis. Complications and pathology also differ between the two diseases.

The skin patch test can be beneficial in this scenario as it has the potential to detect irritants in addition to allergens.

Types of Allergy Tests

Allergy tests are used to determine if a person has an allergic reaction to a particular substance. There are several types of allergy tests available, each with its own advantages and limitations. The most commonly used test is the skin prick test, which is easy to perform and inexpensive. Drops of diluted allergen are placed on the skin, and a needle is used to pierce the skin. A wheal will typically develop if a patient has an allergy. This test is useful for food allergies and pollen.

Another type of allergy test is the radioallergosorbent test (RAST), which determines the amount of IgE that reacts specifically with suspected or known allergens. Results are given in grades from 0 (negative) to 6 (strongly positive). This test is useful for food allergies, inhaled allergens (e.g. pollen), and wasp/bee venom.

Skin patch testing is useful for contact dermatitis. Around 30-40 allergens are placed on the back, and irritants may also be tested for. The patches are removed 48 hours later, and the results are read by a dermatologist after a further 48 hours. Blood tests may be used when skin prick tests are not suitable, for example if there is extensive eczema or if the patient is taking antihistamines. Overall, allergy tests are an important tool in diagnosing and managing allergies.

The patient is suffering from Cushing’s syndrome, which is characterized by an excess of cortisol. This can be caused by exogenous glucocorticoid therapy, autonomous overproduction by the adrenal glands, or increased production of adrenocorticotrophic hormone. High levels of cortisol can mimic the effects of aldosterone, leading to increased sodium and water retention and increased potassium excretion, resulting in hypokalemia. The increased resorption of bicarbonate in the tubules due to potassium depletion causes metabolic alkalosis. Hyperkalemic metabolic acidosis is not expected because cortisol’s effect on the mineralocorticoid receptor causes a loss of potassium. Hyperkalemic respiratory alkalosis is also not expected because cortisol’s effect on the mineralocorticoid receptor leads to potassium excretion. Additionally, any acid-base disturbance in Cushing’s syndrome is likely to be metabolically mediated rather than respiratory. Hypokalemic metabolic acidosis is not expected because the concomitant loss of potassium and reabsorption of bicarbonate causes metabolic alkalosis.

Investigations for Cushing’s Syndrome

Cushing’s syndrome is a condition caused by excessive cortisol production in the body. There are various causes of Cushing’s syndrome, including iatrogenic, ACTH-dependent, and ACTH-independent causes. To diagnose Cushing’s syndrome, doctors typically perform tests to confirm the condition and determine its underlying cause.

General lab findings consistent with Cushing’s syndrome include hypokalaemic metabolic alkalosis and impaired glucose tolerance. Ectopic ACTH secretion, which is often associated with small cell lung cancer, is characterized by very low potassium levels.

The two most commonly used tests to confirm Cushing’s syndrome are the overnight dexamethasone suppression test and the 24-hour urinary free cortisol test. The overnight dexamethasone suppression test is the most sensitive test and is used first-line to test for Cushing’s syndrome. Patients with Cushing’s syndrome do not have their morning cortisol spike suppressed. The 24-hour urinary free cortisol test measures the amount of cortisol in the urine over a 24-hour period.

To localize the cause of Cushing’s syndrome, doctors may perform additional tests such as high-dose dexamethasone suppression test, CRH stimulation, and petrosal sinus sampling of ACTH. An insulin stress test may also be used to differentiate between true Cushing’s and pseudo-Cushing’s. Overall, a combination of these tests can help diagnose Cushing’s syndrome and determine its underlying cause.

In cases where there is a need for urgent psychiatric assessment, GPs may utilize Section 4 of the Mental Health Act. This can be done with the assistance of an AMHP or NR, and allows for the emergency transfer of the patient. Unlike Section 2, which requires the agreement of two psychiatrists, Section 4 is used when there is a risk of unacceptable delay in the patient’s care. It provides a 72-hour window for assessment, after which it is typically converted to a Section 2. Additionally, the police have the authority under Section 135 and 136 to take a patient to a safe location for psychiatric evaluation.

Sectioning under the Mental Health Act is a legal process used for individuals who refuse voluntary admission. This process excludes patients who are under the influence of drugs or alcohol. There are several sections under the Mental Health Act that allow for different types of admission and treatment.

Section 2 allows for admission for assessment for up to 28 days, which is not renewable. An Approved Mental Health Professional (AMHP) or the nearest relative (NR) can make the application on the recommendation of two doctors, one of whom should be an approved consultant psychiatrist. Treatment can be given against the patient’s wishes.

Section 3 allows for admission for treatment for up to 6 months, which can be renewed. An AMHP and two doctors, both of whom must have seen the patient within the past 24 hours, can make the application. Treatment can also be given against the patient’s wishes.

Section 4 is used as an emergency 72-hour assessment order when a section 2 would involve an unacceptable delay. A GP and an AMHP or NR can make the application, which is often changed to a section 2 upon arrival at the hospital.

Section 5(2) allows a doctor to legally detain a voluntary patient in hospital for 72 hours, while section 5(4) allows a nurse to detain a voluntary patient for 6 hours.

Section 17a allows for Supervised Community Treatment (Community Treatment Order) and can be used to recall a patient to the hospital for treatment if they do not comply with the conditions of the order in the community, such as taking medication.

Section 135 allows for a court order to be obtained to allow the police to break into a property to remove a person to a Place of Safety. Section 136 allows for someone found in a public place who appears to have a mental disorder to be taken by the police to a Place of Safety. This section can only be used for up to 24 hours while a Mental Health Act assessment is arranged.

The recommended first-line treatment for lower UTI in pregnant women who are not at term is a 7-day course of nitrofurantoin. However, nitrofurantoin should be avoided in women who are close to term due to the risk of neonatal haemolysis. It is important to promptly and appropriately treat UTI in pregnancy as it is associated with pre-term delivery and low-birthweight. Amoxicillin and cefalexin are second-line options, but local guidelines may vary. It is important to note that a 3-day course of nitrofurantoin is not recommended according to NICE guidelines.

Urinary tract infections (UTIs) are common in adults and can affect different parts of the urinary tract. The management of UTIs depends on various factors such as the patient’s age, gender, and pregnancy status. For non-pregnant women, local antibiotic guidelines should be followed if available. Trimethoprim or nitrofurantoin for three days are recommended by NICE Clinical Knowledge Summaries. However, if the patient is aged over 65 years or has visible or non-visible haematuria, a urine culture should be sent. Pregnant women with UTIs should be treated with nitrofurantoin, amoxicillin, or cefalexin for seven days. Trimethoprim should be avoided during pregnancy as it is teratogenic in the first trimester. Asymptomatic bacteriuria in pregnant women should also be treated to prevent progression to acute pyelonephritis. Men with UTIs should be offered a seven-day course of trimethoprim or nitrofurantoin unless prostatitis is suspected. A urine culture should be sent before antibiotics are started. Catheterised patients should not be treated for asymptomatic bacteria, but if symptomatic, a seven-day course of antibiotics should be given. Acute pyelonephritis requires hospital admission and treatment with a broad-spectrum cephalosporin or quinolone for 10-14 days. Referral to urology is not routinely required for men who have had one uncomplicated lower UTI.

Pharmacologic Treatments and Complications: A Review

Secondary membranous nephropathy can be caused by autoimmune diseases, infectious diseases, malignancy, and exposure to certain drugs such as captopril, gold, lithium, or penicillamine. Treatment with chelating agents like D-penicillamine is the mainstay of treatment for Wilson’s disease, but it can cause proteinuria in up to 30% of patients. Hydroxychloroquine is used for active rheumatoid arthritis but can cause ocular toxicity. Methotrexate is used for severe Crohn’s disease and rheumatoid arthritis but can cause bone marrow suppression. Topical NSAIDs are unlikely to cause systemic side-effects, while sulfasalazine can cause rare but serious side-effects in patients with G6PD deficiency. It is important to monitor patients closely for complications when using these pharmacologic treatments.

A newborn has micrognathia, low-set ears, rocker bottom feet, and overlapping fingers, which are indicative of Edwards Syndrome. This condition, also known as Trisomy 18, is the second most common trisomy after Down Syndrome. Unfortunately, the outcome for infants with Edwards Syndrome is poor, with many dying in-utero and few surviving beyond one week. There are several ultrasound markers that suggest Edwards Syndrome, including cardiac malformations, choroid plexus cysts, neural tube defects, abnormal hand and feet position, exomphalos, growth restriction, single umbilical artery, polyhydramnios, and small placenta. While these markers are not specific to Edwards Syndrome, they increase the likelihood of diagnosis when present together. To confirm the diagnosis, karyotype analysis of placental or amniotic fluid should be performed with patient consent. Infections such as rubella, cytomegalovirus, and varicella zoster should also be considered in the differential diagnosis of multiple fetal abnormalities, and maternal viral serology may be helpful in diagnosis.

Childhood syndromes are a group of medical conditions that affect children and are characterized by a set of common features. Patau syndrome, also known as trisomy 13, is a syndrome that is characterized by microcephaly, small eyes, cleft lip/palate, polydactyly, and scalp lesions. Edward’s syndrome, also known as trisomy 18, is characterized by micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers. Fragile X syndrome is characterized by learning difficulties, macrocephaly, long face, large ears, and macro-orchidism. Noonan syndrome is characterized by a webbed neck, pectus excavatum, short stature, and pulmonary stenosis. Pierre-Robin syndrome is characterized by micrognathia, posterior displacement of the tongue, and cleft palate. Prader-Willi syndrome is characterized by hypotonia, hypogonadism, and obesity. William’s syndrome is characterized by short stature, learning difficulties, friendly, extrovert personality, and transient neonatal hypercalcaemia. Cri du chat syndrome, also known as chromosome 5p deletion syndrome, is characterized by a characteristic cry, feeding difficulties and poor weight gain, learning difficulties, microcephaly and micrognathism, and hypertelorism. It is important to note that Treacher-Collins syndrome is similar to Pierre-Robin syndrome, but it is autosomal dominant and usually has a family history of similar problems.

The CD4 count is a reliable way to measure the immune system’s response to HIV infection. In HIV-negative individuals, the CD4 count is usually maintained above 600-800 cells/µl. However, without antiretroviral therapy, HIV-positive individuals will experience a gradual decline in CD4 count over time. A CD4 count of less than 350 cells/µl increases the risk of opportunistic infections, while a count of less than 200 cells/µl indicates an 80% risk of developing an OI within three years. Some patients may remain well despite having a low CD4 count, depending on viral load and host immunity factors. Different OIs are more likely at different CD4 counts. The World Health Organization now recommends starting ART in every HIV-positive individual, regardless of CD4 count.

A CXR is usually normal in HIV-positive individuals without chronic respiratory disorders. Blood cultures may help diagnose an OI, but do not estimate the risk of developing OIs. HIV-positive individuals often have an abnormal FBC, but this does not help with risk assessment for OIs. TST is used to check for immunity to TB and diagnose LTBI. HIV-positive individuals are at higher risk of TB disease, but may have a muted response to TST due to their compromised immunity. TST can be useful in assessing eligibility for isoniazid preventive therapy, but not in assessing disease stage and risk of OIs in general.

Common Knee Problems in Children and Young Adults

Knee problems are common in children and young adults, especially those who are active in sports.
Chondromalacia patellae is a condition that is more common in teenage girls. It is characterized by the softening of the cartilage of the patella, which can cause anterior knee pain when walking up and down stairs or rising from prolonged sitting. This condition usually responds well to physiotherapy.

Osgood-Schlatter disease, also known as tibial apophysitis, is often seen in sporty teenagers. It causes pain, tenderness, and swelling over the tibial tubercle.

Osteochondritis dissecans can cause pain after exercise, as well as intermittent swelling and locking of the knee.

Patellar subluxation can cause medial knee pain due to lateral subluxation of the patella. The knee may also give way.

Patellar tendonitis is more common in athletic teenage boys. It causes chronic anterior knee pain that worsens after running. On examination, the area below the patella is tender. It is important to note that referred pain may come from hip problems such as slipped upper femoral epiphysis.

Choosing the Next Step in Asthma Treatment: Addition of Inhaled Corticosteroids

According to the Scottish Intercollegiate Guidelines Network (SIGN)/British Thoracic Society (BTS) guidance, patients with asthma who have had an attack in the last two years, use inhaled β2 agonists three times or more a week, are symptomatic three times or more a week, or wake up one night a week should move to the next step of treatment. The preferred next step is the addition of inhaled corticosteroids, which should be titrated to the smallest effective dose while maintaining symptom control.

While an oral leukotriene-receptor antagonist is suggested as an alternative next step if the patient cannot take inhaled corticosteroids, it is not as effective as inhaled corticosteroids. Oral corticosteroids are not recommended as they have many side effects and are not necessary in this scenario.

An inhaled long-acting β2 agonist would be appropriate for the third step of treatment, but this patient should move to the second step, which involves inhaled corticosteroids and continuing as required salbutamol. Simply increasing the salbutamol dose would be inappropriate and not in line with guidance. This patient requires both preventer and reliever therapy to effectively manage her asthma.

Cytochrome P450 Enzyme Inducers and Inhibitors and their Effects on Warfarin Metabolism

Warfarin is a commonly used anticoagulant medication that requires careful monitoring of the international normalized ratio (INR) to ensure therapeutic efficacy and prevent bleeding complications. However, certain medications can affect the metabolism of warfarin by inducing or inhibiting cytochrome P450 enzymes in the liver.

One example of a cytochrome P450 enzyme inducer is carbamazepine, which can increase warfarin metabolism and reduce its effectiveness. This can result in a decreased INR and potentially increase the risk of blood clots. On the other hand, cytochrome P450 enzyme inhibitors such as cimetidine, erythromycin, ketoconazole, and sulfamethoxazole can reduce warfarin metabolism and increase its potency, leading to an increased INR and higher risk of bleeding complications.

To remember these medications, a helpful mnemonic is PC BRAS for enzyme inducers and SICKFACES.COM for enzyme inhibitors. Patients starting these medications should be closely monitored for changes in their INR and warfarin dosages may need to be adjusted accordingly.

The correct diagnosis is acute closed-angle glaucoma, which is characterized by an increase in intra-ocular pressure due to impaired aqueous outflow. Symptoms include a painful red eye, reduced visual acuity, and haloes around light. Risk factors include hypermetropia, pupillary dilatation, and age-related lens growth. Examination findings typically include a fixed dilated pupil with conjunctival injection. Treatment options include reducing aqueous secretions with acetazolamide and increasing pupillary constriction with topical pilocarpine.

Anterior uveitis is an incorrect diagnosis, as it refers to inflammation of the anterior portion of the uvea and is associated with systemic inflammatory conditions. A key ophthalmoscopy finding is an irregular pupil.

Central retinal vein occlusion is also an incorrect diagnosis, as it causes acute blindness due to thromboembolism or vasculitis in the central retinal vein. Severe retinal haemorrhages are seen on ophthalmoscopy.

Infective conjunctivitis is another incorrect diagnosis, as it is characterized by sore, red eyes with discharge. Bacterial causes typically result in purulent discharge, while viral cases often have serous discharge.

Glaucoma is a group of disorders that cause optic neuropathy due to increased intraocular pressure (IOP). However, not all patients with raised IOP have glaucoma, and vice versa. Acute angle-closure glaucoma (AACG) is a type of glaucoma where there is a rise in IOP due to impaired aqueous outflow. Factors that increase the risk of AACG include hypermetropia, pupillary dilatation, and lens growth associated with age. Symptoms of AACG include severe pain, decreased visual acuity, haloes around lights, and a hard, red-eye. Management of AACG is an emergency and requires urgent referral to an ophthalmologist. Emergency medical treatment is necessary to lower the IOP, followed by definitive surgical treatment once the acute attack has subsided.

There are no specific guidelines for the initial medical treatment of AACG, but a combination of eye drops may be used, including a direct parasympathomimetic, a beta-blocker, and an alpha-2 agonist. Intravenous acetazolamide may also be administered to reduce aqueous secretions. Definitive management of AACG involves laser peripheral iridotomy, which creates a small hole in the peripheral iris to allow aqueous humour to flow to the angle. It is important to seek medical attention immediately if symptoms of AACG are present to prevent permanent vision loss.

Investigations for Thrombotic Thrombocytopenic Purpura in a Pregnant Patient with Fever and Confusion

Thrombotic thrombocytopenic purpura (TTP) should be considered in a pregnant patient presenting with fever, acute kidney injury, cerebral dysfunction, thrombocytopenia, and microangiopathic hemolytic anemia. To confirm the diagnosis, a blood film is needed to show the presence of schistocytes from the destruction of red blood cells. An abdominal ultrasound may be considered, but it will not aid in identifying the underlying diagnosis. Although a blood culture is appropriate, it would not confirm the diagnosis. A CT head or lumbar puncture may be useful in excluding visible organic pathology, but they do not play a role in the diagnosis of TTP.

Understanding Lyme Disease

Lyme disease is a bacterial infection caused by Borrelia burgdorferi and is transmitted through tick bites. The early symptoms of Lyme disease include erythema migrans, a characteristic bulls-eye rash that appears at the site of the tick bite. This rash is painless, slowly increases in size, and can be more than 5 cm in diameter. Other early symptoms include headache, lethargy, fever, and joint pain.

If erythema migrans is present, Lyme disease can be diagnosed clinically, and antibiotics should be started immediately. The first-line test for Lyme disease is an enzyme-linked immunosorbent assay (ELISA) to detect antibodies to Borrelia burgdorferi. If the ELISA is negative but Lyme disease is still suspected, it should be repeated 4-6 weeks later. If Lyme disease is suspected in patients who have had symptoms for 12 weeks or more, an immunoblot test should be done.

Tick bites can cause significant anxiety, but routine antibiotic treatment is not recommended by NICE. If the tick is still present, it should be removed using fine-tipped tweezers, and the area should be washed. In cases of suspected or confirmed Lyme disease, doxycycline is the preferred treatment for early disease, while ceftriaxone is used for disseminated disease. A Jarisch-Herxheimer reaction may occur after initiating therapy, which can cause fever, rash, and tachycardia.

In summary, Lyme disease is a bacterial infection transmitted through tick bites. Early symptoms include erythema migrans, headache, lethargy, fever, and joint pain. Diagnosis is made through clinical presentation and ELISA testing, and treatment involves antibiotics. Tick bites do not require routine antibiotic treatment, and ticks should be removed using fine-tipped tweezers.

Lifestyle Advice for Patients with Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) is a chronic inflammatory process that can affect any part of the gastrointestinal tract. Patients with IBD may experience symptoms such as diarrhoea, abdominal pain, and bleeding. Here are some lifestyle advice for patients with IBD:

Stop smoking: Research suggests that smoking can make Crohn’s disease worse. Smokers with Crohn’s disease have more severe symptoms and complications, require more medication, and are more likely to need surgery.

Eat a balanced diet: Patients with IBD may need to be careful about the amount and type of fibre in their diet. During flare-ups, it may be helpful to reduce the amount of insoluble fibre consumed, but, once the flare-up is over, it is important to increase fibre intake again.

Avoid alcohol: Although there is no evidence that alcohol consumption worsens IBD symptoms, alcohol can affect the lining of the gastrointestinal tract and interact with certain medications.

Quit smoking: Although smoking may delay or even prevent ulcerative colitis, the health risks of smoking outweigh any benefits seen in UC, and strongly discourage smoking in everyone, whether or not they have IBD.

Consider probiotics: The role of probiotics in IBD is not fully understood, but their use can be discussed with a General Practitioner or dietitian. More research is needed on their general effectiveness.

Carcinoid tumors can lead to an increase in urinary 5-HIAA due to the release of serotonin. Symptoms of carcinoid syndrome include flushing, diarrhea, bronchospasm, hypotension, and weight loss. The appropriate diagnostic test for this condition is a urinary 5-HIAA test. CA125 is not relevant in this case as it is used to detect ovarian cancer. MRCP is used to investigate gallbladder or pancreatic conditions, while urinary metanephrines are used to diagnose phaeochromocytoma.

Carcinoid Tumours and Syndrome

Carcinoid tumours are a type of neuroendocrine tumour that can secrete various hormones and bioactive substances, including serotonin. When these tumours metastasize to the liver, they can release serotonin into the systemic circulation, leading to a condition known as carcinoid syndrome. This syndrome can also occur with lung carcinoids, as the mediators are not cleared by the liver.

The earliest symptom of carcinoid syndrome is often flushing, followed by diarrhoea, bronchospasm, hypotension, and right heart valvular stenosis. In bronchial carcinoids, the left heart can also be affected. In some cases, other molecules such as ACTH and GHRH may be secreted, resulting in conditions like Cushing’s syndrome. Pellagra, a condition caused by a deficiency of niacin, can also develop as dietary tryptophan is diverted to serotonin by the tumour.

To diagnose carcinoid syndrome, doctors may perform a urinary 5-HIAA test or measure plasma chromogranin A levels. Treatment typically involves somatostatin analogues like octreotide to manage symptoms, while cyproheptadine may help with diarrhoea. Proper management of carcinoid tumours and syndrome is crucial to prevent complications and improve quality of life for patients.

NICE does not recommend treating asymptomatic hyperuricaemia as a means of preventing gout. While high levels of serum uric acid are associated with gout, it is possible to have hyperuricaemia without experiencing any symptoms. NICE has found that attempting to prevent gout in this way is not cost-effective or beneficial for patients. Instead, lifestyle changes such as reducing consumption of red meat, alcohol, and sugar can help lower uric acid levels without the need for medication. The other options listed may be appropriate for treating gout, but are not recommended in the absence of symptoms.

Understanding Hyperuricaemia

Hyperuricaemia is a condition characterized by elevated levels of uric acid in the blood. This can be caused by either increased cell turnover or reduced renal excretion of uric acid. While some patients may not experience any symptoms, hyperuricaemia may be associated with hyperlipidaemia, hypertension, and the metabolic syndrome.

There are several factors that can contribute to increased uric acid synthesis, including Lesch-Nyhan disease, myeloproliferative disorders, a diet rich in purines, exercise, psoriasis, and cytotoxics. On the other hand, decreased excretion of uric acid can be caused by drugs such as low-dose aspirin, diuretics, and pyrazinamide, as well as pre-eclampsia, alcohol consumption, renal failure, and lead exposure.

It is important to understand the underlying causes of hyperuricaemia in order to properly manage and treat the condition. By identifying and addressing the contributing factors, healthcare professionals can help prevent complications such as gout and kidney stones.

Understanding Urinary Incontinence: Types and Treatment Options

Urinary incontinence is a common problem that affects people of all ages, but is more prevalent in elderly individuals and females. It is important to classify the type of urinary incontinence to determine the underlying cause and appropriate treatment.

Functional incontinence occurs due to reasons other than lower urinary tract dysfunction, such as delirium, psychiatric disorders, urinary infection, or impaired mobility. Treatment is directed at the underlying cause.

Mixed incontinence is a combination of stress incontinence and urge incontinence, characterized by mild-to-moderate urine loss with physical activities and acute urine loss without warning, respectively. Urinary frequency, urgency, and nocturia are also present.

Overflow incontinence occurs when the bladder is overdistended and urine overflows despite the absence of detrusor contraction. Symptoms may mimic those of mixed incontinence and may suggest a cause of bladder outlet obstruction or neurological dysfunction.

Stress incontinence is triggered by increased intra-abdominal pressure and is characterized by involuntary urine loss during coughing, laughing, and sneezing. Irritative voiding symptoms are typically absent.

Urge incontinence is associated with an overactive bladder and is characterized by uncontrolled urine loss associated with a strong desire to void, which occurs suddenly and without warning. Patients are unable to hold back urine and experience urinary frequency, urgency, and nocturia.

Treatment options include pelvic floor muscle training, anticholinergic medications such as oxybutynin and solifenacin, bladder retraining, and topical estrogen for postmenopausal women with vaginal atrophy. Treatment is directed at the underlying cause of urinary incontinence.

Acute angle closure glaucoma is identified by symptoms such as eye pain, reduced visual clarity, aggravation with mydriasis (e.g. in a dark cinema), and haloes around lights. It may also cause a general feeling of illness. Migraine with aura is an unlikely diagnosis as it does not involve eye pain. Sudden painless loss of vision is a symptom of vitreous haemorrhage. While optic neuritis can cause eye pain, it typically does not worsen with mydriasis.

Glaucoma is a group of disorders that cause optic neuropathy due to increased intraocular pressure (IOP). However, not all patients with raised IOP have glaucoma, and vice versa. Acute angle-closure glaucoma (AACG) is a type of glaucoma where there is a rise in IOP due to impaired aqueous outflow. Factors that increase the risk of AACG include hypermetropia, pupillary dilatation, and lens growth associated with age. Symptoms of AACG include severe pain, decreased visual acuity, haloes around lights, and a hard, red-eye. Management of AACG is an emergency and requires urgent referral to an ophthalmologist. Emergency medical treatment is necessary to lower the IOP, followed by definitive surgical treatment once the acute attack has subsided.

There are no specific guidelines for the initial medical treatment of AACG, but a combination of eye drops may be used, including a direct parasympathomimetic, a beta-blocker, and an alpha-2 agonist. Intravenous acetazolamide may also be administered to reduce aqueous secretions. Definitive management of AACG involves laser peripheral iridotomy, which creates a small hole in the peripheral iris to allow aqueous humour to flow to the angle. It is important to seek medical attention immediately if symptoms of AACG are present to prevent permanent vision loss.

The correct diagnosis for this patient is hereditary angio-oedema, also known as hereditary angioneurotic oedema. This is an autosomal dominant disorder caused by a congenital deficiency of the C1 inhibitor protein, which is mapped to chromosome 11. In some cases, C1 inhibitor levels are normal but have reduced function. Symptoms typically appear during adolescence and include recurrent attacks of pain, tingling, or itching, particularly around the mouth and pharynx, which may be triggered by increased circulating sex steroids or dental anaesthesia using lidocaine. Diagnosis is made by measuring complement levels, with C4 always low during attacks and often low in between, while C3 and C1q are always normal. Treatment involves using C1 inhibitor concentrate during acute attacks and danazol to increase C4 levels and reduce the frequency and severity of attacks. ACE inhibitors are contraindicated due to the risk of bradykinin accumulation. Acquired angio-oedema, which is caused by an acquired C1 inhibitor deficiency and is associated with lymphoproliferative disorders, is a different condition. Protein C deficiency is a genetic prothrombotic condition that does not explain this patient’s symptoms, and somatisation disorder is unlikely given the clear test abnormalities related to the patient’s symptoms.

Anastrozole, an aromatase inhibitor, may lead to the development of osteoporosis. This medication is commonly used to treat oestrogen receptor-positive breast cancer in postmenopausal women by reducing the production of peripheral oestrogen. However, patients taking this medication are at an increased risk of developing osteoporosis. On the other hand, selective oestrogen receptor modulators (SERM) like tamoxifen may cause amenorrhoea, endometrial cancer, vaginal bleeding, and venous thromboembolism. Tamoxifen is typically used to treat oestrogen receptor-positive breast cancer in pre-menopausal women.

Anti-oestrogen drugs are used in the management of oestrogen receptor-positive breast cancer. Selective oEstrogen Receptor Modulators (SERM) such as Tamoxifen act as an oestrogen receptor antagonist and partial agonist. However, Tamoxifen can cause adverse effects such as menstrual disturbance, hot flushes, venous thromboembolism, and endometrial cancer. On the other hand, aromatase inhibitors like Anastrozole and Letrozole reduce peripheral oestrogen synthesis, which is important in postmenopausal women. Anastrozole is used for ER +ve breast cancer in this group. However, aromatase inhibitors can cause adverse effects such as osteoporosis, hot flushes, arthralgia, myalgia, and insomnia. NICE recommends a DEXA scan when initiating a patient on aromatase inhibitors for breast cancer.

Understanding Immunoglobulin Deficiencies and Their Symptoms

Immunoglobulin deficiencies are a group of disorders that affect the body’s ability to produce specific types of antibodies, leading to an increased risk of infections and autoimmune diseases. Here, we will discuss the different types of immunoglobulin deficiencies and their associated symptoms.

IgA Deficiency:
This deficiency is characterized by a decrease in immunoglobulin A, which can lead to an increased incidence of mucosal infections, particularly gastrointestinal infections with Giardia. Patients may also experience recurrent ear infections, sinusitis, bronchitis, pneumonia, and urinary tract infections. Additionally, IgA deficiency increases the risk of autoimmune diseases, such as rheumatoid arthritis and systemic lupus erythematosus.

IgE Deficiency:
IgE is responsible for fighting parasitic and helminthic infections, so patients with IgE deficiency are more likely to develop these types of infections. They are also at an increased risk of autoimmune disease and non-allergic reactive airways disease.

IgG Deficiency:
Patients with IgG deficiency are prone to developing infections from encapsulated bacteria, such as Streptococcus pneumoniae, Haemophilus influenzae, and Neisseria meningitidis. This deficiency can lead to upper and lower respiratory tract infections and meningitis.

IgM Deficiency:
Primary selective IgM deficiency results in increased infections by bacteria, fungi, and viruses, as well as increased autoimmune diseases. However, this deficiency does not have the selectivity for mucosal membrane infections seen in IgA deficiency.

Severe Combined Immunoglobulin Deficiency (SCID):
SCID is a rare disorder that results from abnormal T- and B-cell development due to inherited genetic mutations. Patients with SCID are affected early in life with multiple severe bacterial, viral, and fungal infections, as well as failure to thrive, interstitial lung disease, and chronic diarrhea.

In conclusion, understanding the different types of immunoglobulin deficiencies and their associated symptoms is crucial for prompt recognition and treatment of opportunistic bacterial infections and autoimmune diseases.

Management of Dyspepsia and Referral for Possible Cancer

Dyspepsia is a common symptom that can be caused by various factors, including medication and lifestyle choices. However, it can also be a sign of underlying conditions such as stomach or oesophageal cancer. The 2015 NICE guidelines provide updated advice on when urgent referral for endoscopy is necessary. Patients with dysphagia or an upper abdominal mass consistent with stomach cancer should be referred urgently. Patients aged 55 years or older with weight loss and upper abdominal pain, reflux, or dyspepsia should also be referred urgently. Non-urgent referrals include patients with haematemesis or those with treatment-resistant dyspepsia, upper abdominal pain with low haemoglobin levels, or raised platelet count with other symptoms.

For patients with undiagnosed dyspepsia, a step-wise approach is recommended. First, medications should be reviewed for possible causes. Lifestyle advice should also be given. If symptoms persist, a trial of full-dose proton pump inhibitor for one month or a ‘test and treat’ approach for H. pylori can be tried. If symptoms persist after either approach, the alternative should be attempted. Testing for H. pylori infection can be done using a carbon-13 urea breath test, stool antigen test, or laboratory-based serology. If symptoms resolve following test and treat, there is no need to check for H. pylori eradication. However, if repeat testing is required, a carbon-13 urea breath test should be used.