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.

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.

Signs and Symptoms of Leg Ulcers: Differentiating Arterial, Venous, and Inflammatory Causes

Leg ulcers can have various causes, including arterial, venous, and inflammatory conditions. Here are some signs and symptoms that can help differentiate between these causes:

Atrophie Blanche: This is a white atrophic scar surrounded by areas of hyperpigmentation, which is a sign of severe venous insufficiency.

Ankle Brachial Pressure Index (ABPI) of 0.4: ABPI is the ratio of systolic blood pressure in the ankle compared with the arm. An ABPI < 0.5 indicates severe arterial disease, suggesting that the ulcer is most likely arterial, rather than venous, in nature. Hairless and Pale Skin on the Lower Legs: Pallor of the skin and a lack of hair growth on the lower legs is a sign of arterial disease, pointing towards a diagnosis of an arterial ulcer rather than a venous ulcer. Necrobiosis Lipoidica: This is a rare granulomatous condition that usually affects people with insulin-dependent diabetes. Plaques are present on the shins, often with telangiectasia in the center and may ulcerate. The cause for the leg ulcer is, therefore, inflammatory rather than venous in origin. Reduced Light-Touch Sensation in Both Feet: Reduced sensation in the feet could be neuropathic in nature (diabetes, multiple sclerosis) or the result of severe arterial disease. Venous insufficiency does not usually affect sensation, so this finding on examination would support a diagnosis of arterial or neuropathic ulcer. By recognizing these signs and symptoms, healthcare professionals can better diagnose and treat leg ulcers based on their underlying causes.

Statins are drugs that inhibit the action of an enzyme called HMG-CoA reductase, which is responsible for producing cholesterol in the liver. However, they can cause some adverse effects such as myopathy, which includes muscle pain, weakness, and damage, and liver impairment. Myopathy is more common in lipophilic statins than in hydrophilic ones. Statins may also increase the risk of intracerebral hemorrhage in patients who have had a stroke before. Therefore, they should be avoided in these patients. Statins should not be taken during pregnancy and should be stopped if the patient is taking macrolides.

Statins are recommended for people with established cardiovascular disease, those with a 10-year cardiovascular risk of 10% or more, and patients with type 2 diabetes mellitus. Patients with type 1 diabetes mellitus who were diagnosed more than 10 years ago, are over 40 years old, or have established nephropathy should also take statins. It is recommended to take statins at night as this is when cholesterol synthesis takes place. Atorvastatin 20mg is recommended for primary prevention, and the dose should be increased if non-HDL has not reduced for 40% or more. Atorvastatin 80 mg is recommended for secondary prevention.

Immunisation is the process of administering vaccines to protect individuals from infectious diseases. The Department of Health has provided guidance on the safe administration of vaccines in its publication ‘Immunisation against infectious disease’ in 2006. The guidance outlines general contraindications to immunisation, such as confirmed anaphylactic reactions to previous doses of a vaccine containing the same antigens or another component contained in the relevant vaccine. Vaccines should also be delayed in cases of febrile illness or intercurrent infection. Live vaccines should not be administered to pregnant women or individuals with immunosuppression.

Specific vaccines may have their own contraindications, such as deferring DTP vaccination in children with an evolving or unstable neurological condition. However, there are no contraindications to immunisation for individuals with asthma or eczema, a history of seizures (unless associated with fever), or a family history of autism. Additionally, previous natural infections with pertussis, measles, mumps, or rubella do not preclude immunisation. Other factors such as neurological conditions like Down’s or cerebral palsy, low birth weight or prematurity, and patients on replacement steroids (e.g. CAH) also do not contraindicate immunisation.

The young man in question is likely suffering from borderline personality disorder (BPD), also known as emotionally unstable personality disorder (EUPD). This condition is characterized by unstable relationships, alternating between idealization and devaluation of others, recurrent self-harm, unstable self-image and self-esteem, suicidal behavior, difficulty controlling anger, and efforts to avoid abandonment. All of these traits are present in this patient, making BPD the most likely diagnosis.

Narcissistic personality disorder is not a likely diagnosis for this patient, as it is characterized by a grandiose sense of self-importance, lack of empathy, and a sense of entitlement. These traits are not present in this patient, and his periods of devaluing her partner are temporary and not pervasive.

Dependent personality disorder is also an unlikely diagnosis, as this condition is characterized by a pervasive need for others to make decisions for the patient and constant reassurance. While the patient has felt that he cannot live without his partner in the past, his labile mood and alternating view of his partner make this diagnosis less likely.

Paranoid personality disorder is also an unlikely diagnosis, as patients with this condition tend to be reluctant to confide in others and have an unforgiving attitude when insulted or questioned. The patient in question does not exhibit these traits, and his difficulty with trusting friends is likely due to his belief that he is undeserving of them.

Personality disorders are a set of personality traits that are maladaptive and interfere with normal functioning in life. It is estimated that around 1 in 20 people have a personality disorder, which are typically categorized into three clusters: Cluster A, which includes Odd or Eccentric disorders such as Paranoid, Schizoid, and Schizotypal; Cluster B, which includes Dramatic, Emotional, or Erratic disorders such as Antisocial, Borderline (Emotionally Unstable), Histrionic, and Narcissistic; and Cluster C, which includes Anxious and Fearful disorders such as Obsessive-Compulsive, Avoidant, and Dependent.

Paranoid individuals exhibit hypersensitivity and an unforgiving attitude when insulted, a reluctance to confide in others, and a preoccupation with conspirational beliefs and hidden meanings. Schizoid individuals show indifference to praise and criticism, a preference for solitary activities, and emotional coldness. Schizotypal individuals exhibit odd beliefs and magical thinking, unusual perceptual disturbances, and inappropriate affect. Antisocial individuals fail to conform to social norms, deceive others, and exhibit impulsiveness, irritability, and aggressiveness. Borderline individuals exhibit unstable interpersonal relationships, impulsivity, and affective instability. Histrionic individuals exhibit inappropriate sexual seductiveness, a need to be the center of attention, and self-dramatization. Narcissistic individuals exhibit a grandiose sense of self-importance, lack of empathy, and excessive need for admiration. Obsessive-compulsive individuals are occupied with details, rules, and organization to the point of hampering completion of tasks. Avoidant individuals avoid interpersonal contact due to fears of criticism or rejection, while dependent individuals have difficulty making decisions without excessive reassurance from others.

Personality disorders are difficult to treat, but a number of approaches have been shown to help patients, including psychological therapies such as dialectical behavior therapy and treatment of any coexisting psychiatric conditions.

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

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

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

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

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

It is essential to treat the candidal infection by administering miconazole cream to both the mother and child. The cream should be applied to the nipple after feeding and the infant’s oral mucosa. Breastfeeding should continue during the treatment period. Additionally, the mother should be educated on maintaining good hand hygiene after changing the baby’s nappy and sterilizing any objects that the baby puts in their mouth, such as dummies and teats. This information is provided by NICE CKS.

Breastfeeding Problems and Their Management

Breastfeeding is a natural process, but it can come with its own set of challenges. Some of the minor problems that breastfeeding mothers may encounter include frequent feeding, nipple pain, blocked ducts, and nipple candidiasis. These issues can be managed by seeking advice on proper positioning, trying breast massage, and using appropriate medication.

Mastitis is a more serious problem that affects around 1 in 10 breastfeeding women. It is characterized by symptoms such as fever, nipple fissure, and persistent pain. Treatment involves the use of antibiotics, such as flucloxacillin, for 10-14 days. Breastfeeding or expressing milk should continue during treatment to prevent complications such as breast abscess.

Breast engorgement is another common problem that causes breast pain in breastfeeding women. It occurs in the first few days after birth and affects both breasts. Hand expression of milk can help relieve the discomfort of engorgement. Raynaud’s disease of the nipple is a less common problem that causes nipple pain and blanching. Treatment involves minimizing exposure to cold, using heat packs, and avoiding caffeine and smoking.

If a breastfed baby loses more than 10% of their birth weight in the first week of life, it may be a sign of poor weight gain. This should prompt consideration of the above breastfeeding problems and an expert review of feeding. Monitoring of weight should continue until weight gain is satisfactory.

Temporal arteritis should be considered in an older patient experiencing a sudden onset of unilateral headache accompanied by jaw claudication and elevated ESR. Trigeminal neuralgia typically does not cause jaw stiffness, while acute angle-closure glaucoma presents with a red eye and does not involve jaw claudication. Although TMJ dysfunction can cause pain during chewing and extend to the scalp and headache, there is no additional information to suggest this as the cause. Therefore, temporal arteritis is the more probable diagnosis.

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.

Understanding Common Reflexes

Reflexes are automatic responses of the body to certain stimuli. These responses are controlled by the nervous system and do not require conscious thought. Common reflexes include the ankle reflex, knee reflex, biceps reflex, and triceps reflex. Each reflex is associated with a specific root in the spinal cord.

The ankle reflex is associated with the S1-S2 root, which is located in the lower part of the spinal cord. This reflex is elicited by tapping the Achilles tendon with a reflex hammer. The resulting contraction of the calf muscle indicates the integrity of the spinal cord and the peripheral nerves.

The knee reflex is associated with the L3-L4 root, which is located in the middle part of the spinal cord. This reflex is elicited by tapping the patellar tendon with a reflex hammer. The resulting contraction of the quadriceps muscle indicates the integrity of the spinal cord and the peripheral nerves.

The biceps reflex is associated with the C5-C6 root, which is located in the upper part of the spinal cord. This reflex is elicited by tapping the biceps tendon with a reflex hammer. The resulting contraction of the biceps muscle indicates the integrity of the spinal cord and the peripheral nerves.

The triceps reflex is associated with the C7-C8 root, which is located in the upper part of the spinal cord. This reflex is elicited by tapping the triceps tendon with a reflex hammer. The resulting contraction of the triceps muscle indicates the integrity of the spinal cord and the peripheral nerves.

Understanding these common reflexes can help healthcare professionals diagnose and treat various neurological conditions. By testing these reflexes, they can determine if there is any damage or dysfunction in the nervous system.