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.

When it comes to managing scalp psoriasis, the approach is slightly different from managing plaque psoriasis. The first-line treatment typically involves using potent corticosteroids topically. Among the options, betamethasone valerate is the best answer as it is a potent corticosteroid that can be prescribed as a shampoo or mousse for easier application. For severe and extensive psoriasis, oral methotrexate may be recommended, but this is not applicable to the patient in question. Phototherapy is also an option for extensive psoriasis, but not for this patient who has well-controlled chronic plaque psoriasis. If no improvement is seen after 8 weeks of using a topical potent corticosteroid, second-line treatment may involve using topical vitamin D.

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

The egg ladder can be used to reintroduce egg in children with non-IgE mediated allergy, starting with baked egg in biscuits. Chlorpheniramine and adrenaline pen are not appropriate choices.

Identifying and Managing Food Allergies in Children and Young People

Food allergies in children and young people can be categorized into IgE-mediated and non-IgE-mediated allergies. It is important to note that food intolerance is not caused by immune system dysfunction and is not covered by the 2011 NICE guidelines. Symptoms of IgE-mediated allergies include skin reactions such as pruritus, erythema, urticaria, and angioedema, gastrointestinal symptoms like nausea, colicky abdominal pain, vomiting, and diarrhea, and respiratory symptoms such as nasal itching, sneezing, rhinorrhea, congestion, cough, chest tightness, wheezing, and shortness of breath. Non-IgE-mediated allergies may present with symptoms like gastro-oesophageal reflux disease, loose or frequent stools, blood and/or mucus in stools, abdominal pain, infantile colic, food refusal or aversion, constipation, perianal redness, pallor and tiredness, and faltering growth.

If the history suggests an IgE-mediated allergy, skin prick tests or blood tests for specific IgE antibodies to the suspected foods and likely co-allergens should be offered. On the other hand, if the history suggests a non-IgE-mediated allergy, the suspected allergen should be eliminated for 2-6 weeks and then reintroduced. It is recommended to consult a dietitian with appropriate competencies about nutritional adequacies, timings, and follow-up. By identifying and managing food allergies in children and young people, we can prevent severe allergic reactions and improve their quality of life.

Seborrhoeic dermatitis is the likely diagnosis for this man’s rash, especially given his medical history of HIV. The recommended first-line treatment for this condition is topical ketoconazole. While oral fluconazole may be useful for treating fungal infections and preventing them in HIV patients, it is not effective for seborrhoeic dermatitis. Oral prednisolone is only used for short periods to treat severe inflammatory skin diseases like atopic dermatitis and is not indicated for seborrhoeic dermatitis. Although topical steroids like hydrocortisone can be used to treat seborrhoeic dermatitis, they are not the preferred initial treatment.

Understanding Seborrhoeic Dermatitis in Adults

Seborrhoeic dermatitis is a chronic skin condition that affects around 2% of the general population. It is caused by an inflammatory reaction related to the overgrowth of a fungus called Malassezia furfur, which is a normal inhabitant of the skin. The condition is characterized by eczematous lesions that appear on the sebum-rich areas of the body, such as the scalp, periorbital, auricular, and nasolabial folds. It can also lead to the development of otitis externa and blepharitis.

Seborrhoeic dermatitis is often associated with other medical conditions, such as HIV and Parkinson’s disease. The management of the condition depends on the affected area. For scalp disease, over-the-counter preparations containing zinc pyrithione and tar are usually the first-line treatment. If these are not effective, ketoconazole is the preferred second-line agent. Selenium sulphide and topical corticosteroids may also be useful.

For the face and body, topical antifungals such as ketoconazole and topical steroids are often used. However, it is important to use steroids for short periods only to avoid side effects. Seborrhoeic dermatitis can be difficult to treat, and recurrences are common. Therefore, it is important to work closely with a healthcare provider to manage the condition effectively.

In the case of a pregnant woman who is not immune to rubella, it is recommended to offer the MMR vaccination after giving birth. Rubella can cause severe harm to the developing foetus, especially during the first 8-10 weeks of pregnancy. Although congenital rubella syndrome is now rare due to widespread MMR vaccination, there has been a resurgence of measles, mumps, and rubella outbreaks in developed countries due to the anti-vaccination movement. The woman should avoid contact with individuals who may have rubella and cannot receive the vaccine while pregnant. Referral to an obstetrician is not necessary at this time since the woman is asymptomatic and in good health. The MMR vaccine should not be administered at 20 weeks of pregnancy, and if the woman is not immune, it should be offered postnatally. If there is a suspicion of rubella based on the woman’s clinical presentation, the local Health Protection Team should be notified, but this is not necessary in this case since there is no suspicion.

Rubella and Pregnancy: Risks, Features, Diagnosis, and Management

Rubella, also known as German measles, is a viral infection caused by the togavirus. Thanks to the introduction of the MMR vaccine, it is now rare. However, if contracted during pregnancy, there is a risk of congenital rubella syndrome, which can cause serious harm to the fetus. It is important to note that the incubation period is 14-21 days, and individuals are infectious from 7 days before symptoms appear to 4 days after the onset of the rash.

The risk of damage to the fetus is highest in the first 8-10 weeks of pregnancy, with a risk as high as 90%. However, damage is rare after 16 weeks. Features of congenital rubella syndrome include sensorineural deafness, congenital cataracts, congenital heart disease (e.g. patent ductus arteriosus), growth retardation, hepatosplenomegaly, purpuric skin lesions, ‘salt and pepper’ chorioretinitis, microphthalmia, and cerebral palsy.

If a suspected case of rubella in pregnancy arises, it should be discussed immediately with the local Health Protection Unit (HPU) as type/timing of investigations may vary. IgM antibodies are raised in women recently exposed to the virus. It should be noted that it is very difficult to distinguish rubella from parvovirus B19 clinically. Therefore, it is important to also check parvovirus B19 serology as there is a 30% risk of transplacental infection, with a 5-10% risk of fetal loss.

If a woman is tested at any point and no immunity is demonstrated, they should be advised to keep away from people who might have rubella. Non-immune mothers should be offered the MMR vaccination in the post-natal period. However, MMR vaccines should not be administered to women known to be pregnant or attempting to become pregnant.

Barrett’s oesophagus is most strongly associated with the presence of GORD as a risk factor.

Understanding Barrett’s Oesophagus

Barrett’s oesophagus is a condition where the lower oesophageal mucosa is replaced by columnar epithelium, increasing the risk of oesophageal adenocarcinoma by 50-100 fold. It is typically identified during an endoscopy for upper gastrointestinal symptoms such as dyspepsia. The length of the affected segment correlates strongly with the chances of identifying metaplasia, with the overall prevalence estimated to be around 1 in 20. Risk factors include gastro-oesophageal reflux disease (GORD), male gender, smoking, and central obesity. Interestingly, alcohol does not seem to be an independent risk factor for Barrett’s. Management includes high-dose proton pump inhibitors and endoscopic surveillance with biopsies every 3-5 years for patients with metaplasia. If dysplasia of any grade is identified, endoscopic intervention such as radiofrequency ablation or endoscopic mucosal resection is offered.

Barrett’s oesophagus is a condition where the lower oesophageal mucosa is replaced by columnar epithelium, increasing the risk of oesophageal adenocarcinoma. It is typically identified during an endoscopy for upper gastrointestinal symptoms such as dyspepsia. The length of the affected segment correlates strongly with the chances of identifying metaplasia, with the overall prevalence estimated to be around 1 in 20. Risk factors include GORD, male gender, smoking, and central obesity. Interestingly, alcohol does not seem to be an independent risk factor for Barrett’s. Management includes high-dose proton pump inhibitors and endoscopic surveillance with biopsies every 3-5 years for patients with metaplasia. If dysplasia of any grade is identified, endoscopic intervention such as radiofrequency ablation or endoscopic mucosal resection is offered.

Diagnostic Tests for Duchenne Muscular Dystrophy and Wilson’s Disease

Duchenne muscular dystrophy (DMD) and Wilson’s disease are two conditions that can present with non-specific symptoms. Here, we discuss the diagnostic tests used to identify these conditions.

DMD is an X-linked recessive condition that predominantly affects males. Diagnosis is usually made by significantly elevated creatine kinase levels and genetic testing. Muscle biopsy may also be required. Symptoms usually present by age three and include delayed walking, muscle weakness, pseudohypertrophy of calf muscles, and learning difficulties. An MRI spine or head is not helpful in diagnosis as DMD is not caused by a central nervous system or spinal pathology.

Wilson’s disease often presents with signs of liver failure and non-specific symptoms such as tiredness, weight loss, and abdominal pain. Neurological symptoms such as tremors, loss of motor skills, and behavioural problems are more common in teenagers and adults. Diagnosis is made by measuring serum caeruloplasmin levels and genetic testing.

In summary, elevated creatine kinase levels and genetic testing are used to diagnose DMD, while serum caeruloplasmin levels and genetic testing are used to diagnose Wilson’s disease. MRI scans are not helpful in the diagnosis of either condition.

The Importance of Neuroimaging in the Diagnosis of Dementia

Neuroimaging plays a crucial role in the diagnosis of dementia and ruling out reversible causes of cognitive decline. Structural imaging should be offered to assist with subtype diagnosis and exclude other reversible conditions unless dementia is well established and the subtype is clear. In primary care, a blood screen is usually sent to exclude reversible causes, while in secondary care, neuroimaging is performed to provide information on aetiology to guide prognosis and management. Focal neurology and cardiovascular abnormalities are not indications for performing structural imaging of the brain. However, neuroimaging is required in the workup of dementia in all age groups, including patients over 75 years old and those under 65 years old with suspected early-onset dementia. The 2011 National Institute for Health and Care Excellence (NICE) guidelines state that structural imaging is essential in the investigation of dementia.

After a stroke, all patients should receive an antiplatelet medication, unless they require an anticoagulant. As per NICE guidelines, individuals with confirmed ischaemic stroke through brain imaging should be given 300 mg of aspirin daily for two weeks. Afterward, long-term treatment with 75 mg of clopidogrel is recommended, provided it is well-tolerated and not contraindicated. If clopidogrel is not suitable, modified-release dipyridamole with low-dose aspirin should be administered.

Latest Guidance on Antiplatelets

Antiplatelets are medications that prevent blood clots from forming by inhibiting platelet aggregation. The most recent guidelines recommend different antiplatelet regimens depending on the diagnosis. For acute coronary syndrome, aspirin and ticagrelor are recommended for 12 months, followed by lifelong aspirin and clopidogrel if aspirin is contraindicated. For percutaneous coronary intervention, lifelong aspirin and prasugrel or ticagrelor for 12 months are recommended, with lifelong clopidogrel if aspirin is contraindicated. For TIA and ischaemic stroke, lifelong clopidogrel is recommended as first-line treatment, with lifelong aspirin and dipyridamole as second-line treatment. For peripheral arterial disease, lifelong clopidogrel is recommended as first-line treatment, with lifelong aspirin as second-line treatment. It is important to follow these guidelines to ensure the best possible outcomes for patients.

Azathioprine is a medication that is broken down into mercaptopurine, which is an active compound that inhibits the production of purine. To determine if someone is at risk for azathioprine toxicity, a test for thiopurine methyltransferase (TPMT) may be necessary. Adverse effects of this medication include bone marrow depression, which can be detected through a full blood count if there are signs of infection or bleeding, as well as nausea, vomiting, pancreatitis, and an increased risk of non-melanoma skin cancer. It is important to note that there is a significant interaction between azathioprine and allopurinol, so lower doses of azathioprine should be used in conjunction with allopurinol. Despite these potential side effects, azathioprine is generally considered safe to use during pregnancy.