Delta F508 on the long arm of chromosome 7 accounts for the majority of CF cases, with approximately 1 in 2500 births being affected by the disease. The carrier rate is estimated to be around 1 in 25.

Understanding Cystic Fibrosis and the Organisms that Affect Patients

Cystic fibrosis is a genetic disorder that causes thickened secretions in the lungs and pancreas. This condition is caused by a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which regulates chloride channels. In the UK, 80% of CF cases are due to delta F508 on chromosome 7, and the carrier rate is approximately 1 in 25.

CF patients are susceptible to colonization by certain organisms, including Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia, and Aspergillus. These organisms can cause infections and exacerbate symptoms in CF patients. It is important for healthcare providers to monitor and manage these infections to improve patient outcomes. By understanding the genetic basis of CF and the organisms that affect patients, healthcare providers can provide better care for those with this condition.

Distant abscesses can be caused by infective embolic plaques in patients with infective endocarditis, including brain abscesses. To aid in the diagnosis of infective endocarditis, an echocardiogram is the most appropriate next investigation for this patient, given their examination findings. While a CT of the chest and abdomen may be necessary if the underlying cause remains unknown, it is less important with a normal chest radiograph and abdominal examination. Bronchoscopy, lower limb imaging, and EEG are not currently necessary.

Understanding Brain Abscesses

Brain abscesses can occur due to various reasons such as sepsis from middle ear or sinuses, head injuries, and endocarditis. The symptoms of brain abscesses depend on the location of the abscess, with those in critical areas presenting earlier. Brain abscesses can cause a considerable mass effect in the brain, leading to raised intracranial pressure. Symptoms of brain abscesses include dull and persistent headaches, fever, focal neurology, nausea, papilloedema, and seizures.

To diagnose brain abscesses, doctors may perform imaging with CT scanning. Treatment for brain abscesses involves surgery, where a craniotomy is performed to remove the abscess cavity. However, the abscess may reform because the head is closed following abscess drainage. Intravenous antibiotics such as 3rd-generation cephalosporin and metronidazole are also administered. Additionally, intracranial pressure management with dexamethasone may be necessary.

Overall, brain abscesses are a serious condition that requires prompt medical attention. Understanding the symptoms and treatment options can help individuals seek medical help early and improve their chances of recovery.

Risk Factors for Lung Cancer

Lung cancer is a deadly disease that can be caused by various factors. The most significant risk factor for lung cancer is smoking, which increases the risk by a factor of 10. However, other factors such as exposure to asbestos, arsenic, radon, nickel, chromate, and aromatic hydrocarbon can also increase the risk of developing lung cancer. Additionally, cryptogenic fibrosing alveolitis has been linked to an increased risk of lung cancer.

It is important to note that not all factors are related to lung cancer. For example, coal dust exposure has not been found to increase the risk of lung cancer. However, smoking and asbestos exposure are synergistic, meaning that a smoker who is also exposed to asbestos has a 50 times increased risk of developing lung cancer (10 x 5). Understanding these risk factors can help individuals make informed decisions about their health and take steps to reduce their risk of developing lung cancer.

To confirm posterior infarction, a posterior ECG should be recorded when ST elevation and Q waves are present in posterior leads (V7-9). In this case, the patient presented with symptoms suggestive of myocardial infarction and the ECG showed changes that indicated the need for a posterior ECG. This involves placing leads V4-V6 on the patient’s back to make leads V7-V9. ST-elevation and Q waves in these leads confirm posterior infarction, and the patient should be transferred for primary percutaneous coronary intervention as soon as possible. It is important to have a high index of suspicion for posterior MIs and a low threshold for getting a posterior ECG.

Giving IV potassium replacement or calcium gluconate IV would be incorrect in this case. These treatments are used for hypokalaemia and severe hyperkalaemia, respectively, and are not the most likely diagnoses. Ibuprofen and colchicine would be appropriate for pericarditis, which presents with chest pain that is worse on lying flat and has characteristic ECG changes. However, the clinical picture and ECG changes in this case are more consistent with ACS.

A CT aortogram is used to investigate for aortic dissection, which can present with severe chest pain, breathlessness, and sweating. However, it would be best to record a posterior ECG to investigate for posterior MI prior to investigating for an aortic dissection due to the classic features of ACS in the history.

Anteroseptal changes in V1-V4 indicate involvement of the left anterior descending artery. Inferior changes in II, III, and aVF suggest the right coronary artery is affected. Anterolateral changes in V1-6, I, and aVL indicate the proximal left anterior descending artery is involved. Lateral changes in I, aVL, and possibly V5-6 suggest the left circumflex artery is affected. Posterior changes in V1-3 may indicate a posterior infarction, which is confirmed by ST elevation and Q waves in posterior leads (V7-9). This type of infarction is usually caused by the left circumflex artery, but can also be caused by the right coronary artery. Reciprocal changes of STEMI are typically seen as horizontal ST depression, tall and broad R waves, upright T waves, and a dominant R wave in V2. It is important to note that a new left bundle branch block (LBBB) may indicate acute coronary syndrome.

Overall, understanding the correlation between ECG changes and coronary artery territories is crucial in diagnosing acute coronary syndrome. By identifying the specific changes in the ECG, medical professionals can determine which artery is affected and provide appropriate treatment. Additionally, recognizing the reciprocal changes of STEMI and the significance of a new LBBB can aid in making an accurate diagnosis.

Frontotemporal dementia (FTD) is a rare form of dementia that typically affects younger patients, with onset between 55 and 65 years old. Unlike Alzheimer’s disease, early memory impairment is not a characteristic symptom of FTD. Instead, early personality and behavior changes are core features. Consensus guidelines suggest diagnostic criteria that include insidious onset and gradual progression, decline in social interpersonal conduct, early impairment in regulation of personal conduct, early emotional blunting, and early loss of insight. Supportive diagnostic features may include behavioral disorders, speech and language changes, and physical signs. Other forms of dementia, such as Alzheimer’s disease, diffuse Lewy body disease (LBD), multiple sclerosis (MS), and vascular dementia, have different characteristic symptoms and diagnostic criteria.

If a person experiences unexplained ear pain on one side for more than 4 weeks and there are no visible abnormalities during an otoscopy, it is important to refer them for further investigation under the 2-week wait. This is particularly crucial for individuals who smoke, as they are at a higher risk for head and neck cancer. Using topical antibiotic/steroid drops or nasal steroid sprays without identifying any underlying pathology is not recommended. While amitriptyline may provide relief for symptoms, it should not be used as a substitute for proper diagnosis and treatment. Referring the patient for further evaluation is necessary to rule out the possibility of malignancy.

Understanding Head and Neck Cancer

Head and neck cancer is a broad term that encompasses various types of cancer, including oral cavity cancers, pharynx cancers, and larynx cancers. Symptoms of head and neck cancer may include a neck lump, hoarseness, persistent sore throat, and mouth ulcers.

To ensure prompt diagnosis and treatment, the National Institute for Health and Care Excellence (NICE) has established suspected cancer pathway referral criteria. For instance, individuals aged 45 and over with persistent unexplained hoarseness or an unexplained lump in the neck may be referred for an appointment within two weeks to assess for laryngeal cancer. Similarly, those with unexplained ulceration in the oral cavity lasting for more than three weeks or a persistent and unexplained lump in the neck may be referred for an appointment within two weeks to assess for oral cancer.

Dentists may also play a role in identifying potential cases of oral cancer. Individuals with a lump on the lip or in the oral cavity or a red or red and white patch in the oral cavity consistent with erythroplakia or erythroleukoplakia may be urgently referred for assessment within two weeks. Finally, individuals with an unexplained thyroid lump may be referred for an appointment within two weeks to assess for thyroid cancer. By following these guidelines, healthcare providers can help ensure timely diagnosis and treatment of head and neck cancer.

It is now recommended to offer allopurinol to all patients after their first gout attack, without delay. However, it is advised to wait until the inflammation has subsided before discussing urate-lowering therapy with the patient. If the attacks are too frequent, allopurinol can be considered even before the inflammation has completely settled. These recommendations are provided by the 2017 British Society for Rheumatology and NICE Clinical Knowledge Summaries.

Gout is caused by chronic hyperuricaemia and is managed acutely with NSAIDs or colchicine. Urate-lowering therapy (ULT) is recommended for patients with >= 2 attacks in 12 months, tophi, renal disease, uric acid renal stones, or prophylaxis if on cytotoxics or diuretics. Allopurinol is first-line ULT, with an initial dose of 100 mg od and titrated to aim for a serum uric acid of < 300 µmol/l. Lifestyle modifications include reducing alcohol intake, losing weight if obese, and avoiding high-purine foods. Consideration should be given to stopping precipitating drugs and losartan may be suitable for patients with coexistent hypertension.

Genetic Disorders and Associated Phenotypic Features

Trisomy 21: Down Syndrome and Duodenal Atresia
Neonates with Down syndrome have an increased risk of duodenal atresia, accounting for around a third of cases. Prenatal imaging can detect this condition, which presents with bilious vomiting within hours of birth. Down syndrome is also characterized by distinct physical features such as brachiocephaly, upward slanting palpebral fissures, and joint hyperflexibility.

45,XO: Turner Syndrome and Cardiac Defects
Turner syndrome affects females with a genetic complement of 45XO. It is characterized by short stature, webbed neck, and lymphoedema. Cardiac defects, including coarctation of the aorta, may also be present.

Fragile X: Learning Disability and Autism
Fragile X is a common X-linked form of learning disability and autism. Physical features are difficult to detect in infancy, but delayed motor milestones and speech and language delay may be present. Macro-orchidism is almost universal post-puberty, and cardiac defects, including mitral valve prolapse, may occur.

Trisomy 18: Edwards’ Syndrome and Neonatal Hypotonia
Trisomy 18, or Edwards’ syndrome, is characterized by neonatal hypotonia, apnoea, and seizures. There is severe psychomotor and growth retardation, microcephaly, and microphthalmia. Over 90% have cardiac defects, commonly VSD, as well as anomalies in most organ systems.

47,XXY: Klinefelter’s Syndrome and Infertility
Klinefelter’s syndrome affects males with a genetic complement of either 47,XXY or 48,XXXY. It is a random mutation, not inherited, and is characterized by tall stature, poorly developed testes or cryptorchidism, and gynaecomastia. Infertility is common. Physical features are not obvious in infancy.

Medications for Post-Myocardial Infarction (MI) Care

After a myocardial infarction (MI), certain medications are recommended to reduce mortality and manage symptoms. Nitrates, such as isosorbide mononitrate, offer no mortality benefit but can be used for angina symptoms. β-blockers, like timolol, provide both mortality and anti-anginal benefits and should be continued for at least 12 months post-MI. Statins, specifically atorvastatin 80 mg, are recommended for secondary prevention to reduce mortality. Angiotensin-converting enzyme (ACE) inhibitors, such as ramipril, offer good mortality benefit, but angiotensin receptor blockers (ARBs) can be used if the patient cannot tolerate ACE inhibitors. Aspirin, in combination with another antiplatelet therapy, is recommended for 12 months post-MI. Studies have shown that tirofiban, timolol, and ramipril reduce mortality after an MI, while isosorbide mononitrate showed no benefit. The MIRACL study found that atorvastatin reduced cardiovascular events by 17% when given for 3 months post-MI.

If a patient with polymyalgia rheumatica does not respond well to steroids, it is important to consider other possible diagnoses. Typically, patients with this condition experience a dramatic improvement in symptoms within two weeks of starting steroid treatment. Therefore, if there is no response, it is unlikely that polymyalgia rheumatica is the correct diagnosis. Other conditions that may be considered include rheumatoid arthritis, hypothyroidism, fibromyalgia, and polymyositis. Continuing with the same dose of prednisolone or increasing the dose is not recommended, as there should have been some response to the initial dose if polymyalgia rheumatica was present. Similarly, replacing oral prednisolone with IV methylprednisolone is not appropriate if there has been no response to the oral medication. Methotrexate is a second-line treatment option for polymyalgia rheumatica, but it is not the most appropriate next step if the diagnosis is uncertain.

Polymyalgia Rheumatica: A Condition of Muscle Stiffness in Older People

Polymyalgia rheumatica (PMR) is a common condition that affects older people. It is characterized by muscle stiffness and elevated inflammatory markers. Although it is closely related to temporal arteritis, the underlying cause is not fully understood, and it does not appear to be a vasculitic process. PMR typically affects patients over the age of 60 and has a rapid onset, usually within a month. Patients experience aching and morning stiffness in proximal limb muscles, along with mild polyarthralgia, lethargy, depression, low-grade fever, anorexia, and night sweats.

To diagnose PMR, doctors look for raised inflammatory markers, such as an ESR of over 40 mm/hr. Creatine kinase and EMG are normal. Treatment for PMR involves prednisolone, usually at a dose of 15mg/od. Patients typically respond dramatically to steroids, and failure to do so should prompt consideration of an alternative diagnosis.

Although deliberate self-harm is more prevalent among females, completed suicide is more prevalent among males.

Suicide Risk Factors and Protective Factors

Suicide risk assessment is a common practice in psychiatric care, with patients being stratified into high, medium, or low risk categories. However, there is a lack of evidence on the positive predictive value of individual risk factors. A review in the BMJ concluded that such assessments may not be useful in guiding decision-making, as 50% of suicides occur in patients deemed low risk. Nevertheless, certain factors have been associated with an increased risk of suicide, including male sex, history of deliberate self-harm, alcohol or drug misuse, mental illness, depression, schizophrenia, chronic disease, advancing age, unemployment or social isolation, and being unmarried, divorced, or widowed.

If a patient has attempted suicide, there are additional risk factors to consider, such as efforts to avoid discovery, planning, leaving a written note, final acts such as sorting out finances, and using a violent method. On the other hand, there are protective factors that can reduce the risk of suicide, such as family support, having children at home, and religious belief. It is important to consider both risk and protective factors when assessing suicide risk and developing a treatment plan.

Undiagnosed bilateral renal artery stenosis can lead to significant renal impairment after starting an ACE inhibitor. This condition is commonly caused by atherosclerosis, but young females may also develop it due to fibromuscular dysplasia. As it often lacks symptoms, it can go unnoticed. While ACE inhibitors may cause a slight rise in serum creatinine, they usually only mildly affect renal function. Therefore, it is crucial to monitor renal function two weeks after initiating ramipril and other ACE inhibitors. Glomerulonephritis, which refers to inflammation of the glomeruli, has multiple causes and typically results in gradual renal function decline, not rapid worsening after ACE inhibitor initiation. Although renal calculi and renal artery thrombosis can cause acute kidney injury, the patient in this question lacks pain and thrombosis risk factors. Chronic, untreated hypertension can also affect renal function, but it progresses slowly over years, and the patient’s renal function was normal before starting ramipril.

Angiotensin-converting enzyme (ACE) inhibitors are commonly used as the first-line treatment for hypertension and heart failure in younger patients. However, they may not be as effective in treating hypertensive Afro-Caribbean patients. These inhibitors are also used to treat diabetic nephropathy and for secondary prevention of ischaemic heart disease. The mechanism of action of ACE inhibitors is to inhibit the conversion of angiotensin I to angiotensin II. They are metabolized in the liver through phase 1 metabolism.

ACE inhibitors may cause side effects such as cough, which occurs in around 15% of patients and may occur up to a year after starting treatment. This is thought to be due to increased bradykinin levels. Angioedema may also occur up to a year after starting treatment. Hyperkalaemia and first-dose hypotension are other potential side effects, especially in patients taking diuretics. ACE inhibitors should be avoided during pregnancy and breastfeeding, and caution should be exercised in patients with renovascular disease, aortic stenosis, or hereditary or idiopathic angioedema.

Patients receiving high-dose diuretic therapy (more than 80 mg of furosemide a day) are at an increased risk of hypotension when taking ACE inhibitors. Before initiating treatment, urea and electrolytes should be checked, and after increasing the dose, a rise in creatinine and potassium may be expected. Acceptable changes include an increase in serum creatinine up to 30% from baseline and an increase in potassium up to 5.5 mmol/l. Patients with undiagnosed bilateral renal artery stenosis may experience significant renal impairment. The current NICE guidelines provide a flow chart for the management of hypertension.

Nasal Septal Haematoma: A Complication of Nasal Trauma

Nasal septal haematoma is a serious complication that can occur after even minor nasal trauma. It is characterized by the accumulation of blood between the septal cartilage and the surrounding perichondrium. The most common symptom is nasal obstruction, but pain and rhinorrhoea may also be present. On examination, a bilateral, red swelling arising from the nasal septum is typically seen. It is important to differentiate this from a deviated septum, which will be firm to the touch.

If left untreated, nasal septal haematoma can lead to irreversible septal necrosis within just a few days. This occurs due to pressure-related ischaemia of the cartilage, which can result in necrosis and a saddle-nose deformity. To prevent this, surgical drainage and intravenous antibiotics are necessary. It is important to be vigilant for this complication after any nasal trauma, no matter how minor.

In this scenario, the BNF suggests administering half of the oral dose of morphine when using the parenteral route (subcutaneous, intramuscular, or intravenous). If the patient is no longer able to swallow, a continuous subcutaneous infusion of morphine is typically given.

Palliative care prescribing for pain is guided by NICE and SIGN guidelines. NICE recommends starting treatment with regular oral modified-release or immediate-release morphine, with immediate-release morphine for breakthrough pain. Laxatives should be prescribed for all patients initiating strong opioids, and antiemetics should be offered if nausea persists. Drowsiness is usually transient, but if it persists, the dose should be adjusted. SIGN advises that the breakthrough dose of morphine is one-sixth the daily dose, and all patients receiving opioids should be prescribed a laxative. Opioids should be used with caution in patients with chronic kidney disease, and oxycodone is preferred to morphine in patients with mild-moderate renal impairment. Metastatic bone pain may respond to strong opioids, bisphosphonates, or radiotherapy, and all patients should be considered for referral to a clinical oncologist for further treatment. When increasing the dose of opioids, the next dose should be increased by 30-50%. Conversion factors between opioids are also provided. Opioid side-effects are usually transient, such as nausea and drowsiness, but constipation can persist. In addition to strong opioids, bisphosphonates, and radiotherapy, denosumab may be used to treat metastatic bone pain.

Overall, the guidelines recommend starting with regular oral morphine and adjusting the dose as needed. Laxatives should be prescribed to prevent constipation, and antiemetics may be needed for nausea. Opioids should be used with caution in patients with chronic kidney disease, and oxycodone is preferred in patients with mild-moderate renal impairment. Metastatic bone pain may respond to strong opioids, bisphosphonates, or radiotherapy, and referral to a clinical oncologist should be considered. Conversion factors between opioids are provided, and the next dose should be increased by 30-50% when adjusting the dose. Opioid side-effects are usually transient, but constipation can persist. Denosumab may also be used to treat metastatic bone pain.

Temporal arteritis is likely the cause of a constant throbbing headache, pain while chewing, and tenderness in the scalp. These symptoms are not typical of a migraine, which usually involves pain on one side of the head, sensitivity to light, nausea/vomiting, and sometimes an aura. A subarachnoid hemorrhage typically presents with a sudden, severe headache in the occipital region. Tension headaches are often described as a dull, band-like pain across the forehead. Cluster headaches are characterized by intense pain around the eye, accompanied by tearing, redness, and a stuffy nose.

Understanding Temporal Arteritis

Temporal arteritis is a type of large vessel vasculitis that often overlaps with polymyalgia rheumatica (PMR). It is characterized by changes in the affected artery that skip certain sections while damaging others. This condition typically affects individuals who are over 60 years old and has a rapid onset, usually occurring in less than a month. The most common symptoms include headache and jaw claudication, while vision testing is a crucial investigation for all patients.

Temporal arteritis can lead to various ocular complications, with anterior ischemic optic neuropathy being the most common. This results from the occlusion of the posterior ciliary artery, leading to ischemia of the optic nerve head. Patients may experience temporary visual loss or even permanent visual loss, which is the most feared complication of this condition. Other symptoms may include diplopia, tender and palpable temporal artery, and features of PMR such as aching, morning stiffness in proximal limb muscles, lethargy, depression, low-grade fever, anorexia, and night sweats.

To diagnose temporal arteritis, doctors may look for raised inflammatory markers such as an ESR of over 50 mm/hr or elevated CRP levels. A temporal artery biopsy may also be performed to check for skip lesions. Urgent high-dose glucocorticoids should be given as soon as the diagnosis is suspected, and an ophthalmologist should review patients with visual symptoms on the same day. Treatment may also involve bone protection with bisphosphonates and low-dose aspirin, although the evidence supporting the latter is weak.

In summary, temporal arteritis is a serious condition that requires prompt diagnosis and treatment to prevent irreversible visual damage. Patients who experience symptoms such as headache, jaw claudication, and visual disturbances should seek medical attention immediately.

The symptoms of HELLP syndrome, a severe form of pre-eclampsia, include haemolysis (H), elevated liver enzymes (EL), and low platelets (LP). A patient with this condition may experience malaise, nausea, vomiting, and headache, as well as hypertension with proteinuria and epigastric and/or upper abdominal pain. The patient in this case meets the requirements for a diagnosis of HELLP syndrome.

Liver Complications During Pregnancy

During pregnancy, there are several liver complications that may arise. One of the most common is intrahepatic cholestasis of pregnancy, which occurs in about 1% of pregnancies and is typically seen in the third trimester. Symptoms include intense itching, especially in the palms and soles, as well as elevated bilirubin levels. Treatment involves the use of ursodeoxycholic acid for relief and weekly liver function tests. Women with this condition are usually induced at 37 weeks to prevent stillbirth, although maternal morbidity is not typically increased.

Another rare complication is acute fatty liver of pregnancy, which may occur in the third trimester or immediately after delivery. Symptoms include abdominal pain, nausea and vomiting, headache, jaundice, and hypoglycemia. Severe cases may result in pre-eclampsia. ALT levels are typically elevated, and support care is the primary management until delivery can be performed once the patient is stabilized.

Finally, conditions such as Gilbert’s and Dubin-Johnson syndrome may be exacerbated during pregnancy. Additionally, HELLP syndrome, which stands for haemolysis, elevated liver enzymes, and low platelets, is a serious complication that can occur in the third trimester and requires immediate medical attention. Overall, it is important for pregnant women to be aware of these potential liver complications and to seek medical attention if any symptoms arise.

Understanding the Side Effects of Amiodarone: A Comprehensive Overview

Amiodarone is a medication commonly used to treat cardiac arrhythmias. However, it is important to be aware of its potential side effects. Here is a breakdown of some of the most important things to know:

Hyperthyroidism: Amiodarone can cause both hypo and hyperthyroidism. Patients taking this medication should have their thyroid function checked regularly.

COPD: While amiodarone is not known to cause COPD, it can lead to pulmonary toxicity, including pneumonitis and fibrosis. Patients should have yearly chest x-rays.

Drug-induced diabetes mellitus: There is no known association between amiodarone and the development of diabetes mellitus.

Drug-induced pemphigus: Long-term use of amiodarone can cause phototoxicity and skin discoloration. Patients should protect their skin from light during treatment. However, it is not known to cause drug-induced pemphigus.

Renal calculi: There is no known association between amiodarone and the development of kidney disease, including renal calculi.

Other important side effects of amiodarone include hepatotoxicity, bradycardia, phototoxicity, and development of corneal deposits. If you are taking amiodarone, it is important to be aware of these potential side effects and to discuss any concerns with your healthcare provider.

It is considered normal for newborns under 3 months to have intermittent squint due to their underdeveloped eye muscles. Therefore, there is no need for investigation. However, if the squint persists or there are concerns about the newborn’s vision, referral to secondary care is recommended. In older children, eye patches may be used to prevent lazy eye.

Squint, also known as strabismus, is a condition where the visual axes are misaligned. There are two types of squints: concomitant and paralytic. Concomitant squints are more common and are caused by an imbalance in the extraocular muscles. On the other hand, paralytic squints are rare and are caused by the paralysis of extraocular muscles. It is important to detect squints early on as they can lead to amblyopia, where the brain fails to process inputs from one eye and favours the other eye over time.

To detect a squint, a corneal light reflection test can be performed by holding a light source 30cm from the child’s face to see if the light reflects symmetrically on the pupils. The cover test is also used to identify the nature of the squint. This involves asking the child to focus on an object, covering one eye, and observing the movement of the uncovered eye. The test is then repeated with the other eye covered.

If a squint is detected, it is important to refer the child to secondary care. Eye patches may also be used to help prevent amblyopia.

Managing a Patient with Suspected Chronic Kidney Disease

When a patient presents with suspected chronic kidney disease (CKD), it is important to perform a thorough examination and urinalysis to confirm the diagnosis. While patients with CKD stages 1-3 may not exhibit symptoms, those in stages 4-5 may experience endocrine/metabolic derangements or disturbances in water or electrolyte balance. Anaemia is often one of the first signs of CKD, but the lack of physical findings on examination does not exclude kidney disease. Initial screening for proteinuria can be done with a standard urine dipstick, and further testing may be necessary if the test is positive. Referral to a nephrology outpatient may be necessary, depending on the severity of the CKD. ACE inhibitors should only be started once the patient’s baseline renal function has been established, and blood tests should be rechecked in 2 weeks. Immediate admission is only necessary for patients with CKD stage 5 who present with acute indications for dialytic therapy.

Patients who will be on long-term hydroxychloroquine treatment must now undergo an initial ophthalmologic examination. Recent studies indicate that hydroxychloroquine-induced retinopathy is more prevalent than previously believed. The latest guidelines from RCOphth (March 2018) recommend color retinal photography and spectral domain optical coherence tomography scanning of the macula for patients who are expected to take the medication for more than five years. While it is recommended to conduct a complete blood count and assess renal and liver function when starting hydroxychloroquine, other options are unnecessary.

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.

Investigating Salivary Gland Stones: Imaging and Laboratory Tests

Salivary gland stones, or sialolithiasis, can cause pain and swelling in the affected gland, especially during eating or chewing. Diagnosis is usually based on clinical examination, but imaging may be necessary in cases of diagnostic uncertainty or suspected secondary infection. X-ray sialography is the traditional first-line investigation, as it is cheap and highly sensitive. Ultrasound and more advanced techniques like magnetic resonance sialography and CT sialography may also be used, but X-ray sialography remains the preferred option. Laboratory tests like amylase levels and blood cultures are not typically used in the diagnosis of sialolithiasis, unless there is a suspicion of acute pancreatitis or secondary infection, respectively.

Choosing the Right Treatment for Hypoglycaemic Episodes in Type 2 Diabetes

When metformin alone is not enough to control HbA1c in type 2 diabetes, NICE recommends adding a sulfonylurea, pioglitazone, or a DPP-4 inhibitor. However, if the patient experiences hypoglycaemic episodes, it is important to reassess the treatment plan.

Stopping gliclazide, a sulfonylurea, is necessary as it is likely causing the hypoglycaemic episodes. Pioglitazone is contraindicated in patients with heart failure, so a DPP-4 inhibitor like sitagliptin is the appropriate next step.

Initiating insulin is not recommended as it can be dangerous, and should only be considered after other options have failed. Reducing metformin is unlikely to prevent hypoglycaemic episodes as it does not typically cause them on its own.

In summary, choosing the right treatment for hypoglycaemic episodes in type 2 diabetes involves careful consideration of the patient’s medical history and NICE guidelines.

Investigations for Male Infertility: Which Tests are Necessary?

Testing for chlamydia is an important part of the initial screening investigations for primary infertility, according to The National Institute for Health and Care Excellence (NICE) guidance. This test should be carried out in primary care prior to referring the couple to secondary care fertility services. On the other hand, screening for gonorrhoea does not form part of these investigations, as it does not tend to affect a patient’s ability to conceive and does not usually remain asymptomatic in affected individuals. Anti-sperm antibodies can be used in secondary care as part of the investigation for couples who are struggling to conceive. However, it would not usually be done in primary care. The NICE guidance on fertility management in men advises that couples who have been trying to conceive after one year of regular intercourse should be referred to fertility services. Watching and waiting would not be appropriate in this situation, as the couple has been trying to conceive for 24 months. Finally, a testicular biopsy is indicated for investigation of potential testicular carcinoma or for sperm retrieval for in-vitro fertilisation procedures. This patient has a normal testicular examination and there is no indication for a testicular biopsy at this point.

Understanding Idiopathic Pulmonary Fibrosis

Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition that causes progressive fibrosis of the interstitium of the lungs. Unlike other causes of lung fibrosis, IPF has no underlying cause. It is typically seen in patients aged 50-70 years and is more common in men.

The symptoms of IPF include progressive exertional dyspnoea, dry cough, clubbing, and bibasal fine end-inspiratory crepitations on auscultation. Diagnosis is made through spirometry, impaired gas exchange tests, and imaging such as chest x-rays and high-resolution CT scans.

Management of IPF includes pulmonary rehabilitation, but very few medications have been shown to be effective. Some evidence suggests that pirfenidone, an antifibrotic agent, may be useful in selected patients. Many patients will eventually require supplementary oxygen and a lung transplant.

The prognosis for IPF is poor, with an average life expectancy of around 3-4 years. CT scans can show advanced pulmonary fibrosis, including honeycombing. While there is no cure for IPF, early diagnosis and management can help improve quality of life and potentially prolong survival.

Treatment Options for chickenpox in Children

chickenpox is a common viral infection in children that presents with a characteristic vesicular rash. While there is no specific treatment for chickenpox, symptomatic relief can be provided to alleviate itching and fever. Here are some treatment options for chickenpox in children:

1. Chlorphenamine: This sedating antihistamine can be used at night-time to help with itching.

2. Aciclovir: This antiviral medication is recommended for patients who are immunosuppressed or have risk factors for developing complications from infection, such as adults or newborns.

3. Flucloxacillin: This antibiotic is used to treat secondary bacterial infections that can occur with chickenpox. However, it is not necessary for a child who is well and afebrile.

4. Ibuprofen: While ibuprofen and paracetamol are both used as antipyretics in children with febrile illnesses, the use of ibuprofen in children with chickenpox is linked to an increased risk of severe skin infection. Paracetamol is recommended instead.

5. Malathion: This treatment is for scabies, not chickenpox. Scabies presents with a different type of rash and does not have a prodromal illness.

In summary, treatment for chickenpox in children is mainly symptomatic. Antihistamines and calamine lotion can help with itching, while paracetamol can be used for fever. Antibiotics and antivirals are only necessary in certain cases.

Endocrine Disorders: Addison’s Disease, Cushing Syndrome, and Conn Syndrome

Addison’s Disease:
Addison’s disease, or primary hypoadrenalism, is a condition characterized by chronic adrenal insufficiency. It is most commonly caused by autoimmune destruction of the adrenals in the UK, while tuberculosis is the most common cause worldwide. Other causes include long-term exogenous steroid use, cancer, or hemorrhage damage. Symptoms develop gradually, but patients can present in Addisonian crisis if there is a sudden deterioration in adrenal function or a physiological stress that the residual adrenal function cannot cope with. Treatment is with long-term replacement of corticosteroids and aldosterone.

Cushing Syndrome:
Cushing syndrome is a result of excess corticosteroid. It can be caused by exogenous steroids, primary hyperadrenalism, or secondary hyperadrenalism. Signs and symptoms include weight gain with moon facies and buffalo hump, hypertension, hyperglycemia, mood changes, hirsutism, baldness, and sleep disturbance.

Conn Syndrome:
Conn syndrome, also known as primary hyperaldosteronism, is caused most commonly by adrenal hyperplasia or adenomas. It results in excess aldosterone release, causing difficult-to-treat hypertension, hypernatremia, and hypokalemia.

Other Disorders:
Hypoglycemia occurs in insulinoma, but the other features are absent. Peutz-Jeghers syndrome is an autosomal dominant condition characterized by perioral freckling and small bowel polyps, which may present with vomiting secondary to intussusception from the small polyps but does not explain the hypoglycemia.

Loratadine and cetirizine are antihistamines that are not likely to cause sedation, unlike chlorpheniramine which is known to be more sedating.

While loratadine may still cause sedation, it is less likely to do so compared to other antihistamines such as chlorphenamine and promethazine. Buclizine, on the other hand, is primarily used as an anti-emetic for migraines but also has antihistamine properties. Mirtazapine, although it has antihistamine properties, is mainly used as an antidepressant and appetite stimulant.

Antihistamines for Allergic Rhinitis and Urticaria

Antihistamines, specifically H1 inhibitors, are effective in treating allergic rhinitis and urticaria. Sedating antihistamines such as chlorpheniramine have antimuscarinic properties that can cause side effects like urinary retention and dry mouth. On the other hand, non-sedating antihistamines like loratidine and cetirizine are less likely to cause drowsiness. However, there is some evidence that cetirizine may still cause more drowsiness compared to other non-sedating antihistamines. Overall, antihistamines are a valuable treatment option for those suffering from allergic rhinitis and urticaria.

If the Wells score for a suspected deep vein thrombosis (DVT) is 2 or higher, a proximal leg vein ultrasound scan should be arranged within 4 hours. In this case, the patient’s Wells score is 2 due to recent major surgery within 12 weeks and a calf swelling at least 3 cm larger than the asymptomatic side. It is important to note that a CT angiogram of the leg is not appropriate for diagnosing DVT, and ultrasound is the preferred imaging modality. A CT pulmonary angiogram would only be necessary if the patient had symptoms suggestive of pulmonary embolism. A chest X-ray is not relevant in this scenario. If ultrasound is not possible within 4 hours, a D-dimer test could be performed and interim therapeutic anticoagulation given, but the initial choice is to perform an ultrasound scan as soon as possible.

NICE updated their guidelines on the investigation and management of venous thromboembolism (VTE) in 2020. The use of direct oral anticoagulants (DOACs) is recommended as first-line treatment for most people with VTE, including as interim anticoagulants before a definite diagnosis is made. Routine cancer screening is no longer recommended following a VTE diagnosis. The cornerstone of VTE management is anticoagulant therapy, with DOACs being the preferred choice. All patients should have anticoagulation for at least 3 months, with the length of anticoagulation being determined by whether the VTE was provoked or unprovoked.

If a person experiences an audible ‘pop’ in their ankle, sudden and severe pain in the calf or ankle, or is unable to continue playing a sport or running, an Achilles tendon rupture should be suspected. Posterior ankle impingement is characterized by pain during forced plantar flexion when jumping or kicking, and is most commonly seen in gymnasts, ballet dancers, and footballers. Navicular bone fractures, which are stress fractures, are frequently observed in athletes who engage in sports that involve sprinting and jumping. Athletes who have had multiple ankle sprains may experience peroneal tendon dislocation due to friction and inflammation of the tendon. Stress metatarsal fractures, also known as march fractures, are most commonly seen in soldiers, hikers, and hospital doctors who spend extended periods standing and walking.

Achilles tendon disorders are a common cause of pain in the back of the heel. These disorders can include tendinopathy, partial tears, and complete ruptures of the Achilles tendon. Certain factors, such as the use of quinolone antibiotics and high cholesterol levels, can increase the risk of developing these disorders. Symptoms of Achilles tendinopathy typically include gradual onset of pain that worsens with activity, as well as morning stiffness. Treatment for this condition usually involves pain relief, reducing activities that exacerbate the pain, and performing calf muscle eccentric exercises.

In contrast, an Achilles tendon rupture is a more serious condition that requires immediate medical attention. This type of injury is often caused by sudden, forceful movements during sports or running. Symptoms of an Achilles tendon rupture include an audible popping sound, sudden and severe pain in the calf or ankle, and an inability to walk or continue the activity. To help diagnose an Achilles tendon rupture, doctors may use Simmond’s triad, which involves examining the foot for abnormal angles and feeling for a gap in the tendon. Ultrasound is typically the first imaging test used to confirm a diagnosis of Achilles tendon rupture. If a rupture is suspected, it is important to seek medical attention from an orthopaedic specialist as soon as possible.

A lower motor neurone facial palsy can be caused by parotid pathology.

After exiting the stylomastoid foramen, the facial nerve passes through the parotid gland and divides into five branches: temporal, zygomatic, buccal, marginal mandibular, and cervical. If there is any pathology within the parotid gland, it can lead to a lower motor neurone facial palsy. Additionally, surgery to the parotid gland can also result in this complication.

Facial Nerve Palsy: Causes and Path

Facial nerve palsy is a condition that affects the facial nerve, which supplies the muscles of facial expression, digastric muscle, and glandular structures. It can be caused by various factors, including sarcoidosis, Guillain-Barre syndrome, Lyme disease, acoustic neuromas, and Bell’s palsy. Bilateral facial nerve palsy is less common and can be caused by the same factors as unilateral palsy, but it can also be a result of neurofibromatosis type 2.

The facial nerve has two paths: the subarachnoid path and the facial canal path. The subarachnoid path originates from the pons and passes through the petrous temporal bone into the internal auditory meatus with the vestibulocochlear nerve. The facial canal path passes superior to the vestibule of the inner ear and contains the geniculate ganglion at the medial aspect of the middle ear. It has three branches: the greater petrosal nerve, the nerve to stapedius, and the chorda tympani. The facial nerve then passes through the stylomastoid foramen and gives rise to the posterior auricular nerve and a branch to the posterior belly of the digastric and stylohyoid muscle.

It is important to differentiate between lower motor neuron and upper motor neuron lesions in facial nerve palsy. An upper motor neuron lesion spares the upper face, while a lower motor neuron lesion affects all facial muscles. Multiple sclerosis and diabetes mellitus can also cause an upper motor neuron palsy. Understanding the causes and path of facial nerve palsy can aid in its diagnosis and treatment.