The history of diabetes, complete loss of vision in the affected eye and inability to visualise the retina, suggest a diagnosis of vitreous haemorrhage (VH). 3 conditions cause 59 to 88.5% of VH cases: proliferative diabetic retinopathy, posterior vitreous detachment (PVD), and ocular trauma

Becks triad (hypotension, elevated systemic venous pressure, often with jugular venous distention and muffled heart sounds) is a characteristic collection of clinical findings found in cardiac tamponade. Pulsus paradoxus is also associated with it. The history and clinical findings in this scenario are compatible with the diagnosis of cardica tamponade. The normal respiratory examination excludes tension pneumothorax.

T. gondii infection in immunocompetent people is usually asymptomatic. It can present as fits in patients with AIDs, who are immunosuppressed. Additionally, infection in the first trimester of pregnancy is very harmful. Congenital toxoplasmosis presents with intracranial calcifications, classically. It can also present with hydrocephalus, microcephaly, blindness, petechiae. Siramycin is the drug of choice to try to prevent vertical transmission from mother to baby. It is typically gotten from cat faeces or raw/undercooked meat, not raw eggs (raw eggs: think salmonella).

Deletion of part of chromosome 5 or 7 is a poor prognostic feature for acute myeloid leukaemia (AML).

AML is the acute expansion of the myeloid stem line, which may occur as a primary disease or follow the secondary transformation of a myeloproliferative disorder. It is more common over the age of 45 and is characterized by signs and symptoms largely related to bone marrow failure such as anaemia (pallor, lethargy), frequent infections due to neutropenia (although the total leucocyte count may be very high), thrombocytopaenia (bleeding), ostealgia, and splenomegaly.

The disease has poor prognosis if:
1. Age of the patient >60 years
2. >20% blasts seen after the first course of chemotherapy
3. Chromosomal aberration with deletion of part of chromosome 5 or 7.

Acute promyelocytic leukaemia (APL) is an aggressive form of AML.

In hyperkalaemia the ECG will show tall, tented T waves as well as small P waves and widened QRS complexes. 

In statistical hypothesis testing there are 2 types of errors:
– type I: the null hypothesis is rejected when it is true – i.e. Showing a difference between two groups when it doesn’t exist, a false positive.
– type II: the null hypothesis is accepted when it is false – i.e. Failing to spot a difference when one really exists, a false negative.

Cataract is a condition characterized by clouding of the lens of the eye. This condition most frequently occurs due to age-related degenerative processes in the lens, but can also be associated with ocular trauma, metabolic disorders, side-effects of drugs, or congenital infections. The clouding causes distortion of light, as it passes through the lens, resulting in visual impairment and glare. Initially, a cataract presents discretely and may even go unnoticed, but the visual impairment worsens as the cataract grows larger.

Diagnosis is typically established on the basis of a thorough history and direct visualization of the cataract (by means of slit-lamp microscopy). Surgery is indicated with significant visual impairment and involves lens extraction and implantation of an artificial lens. Untreated cataracts eventually lead to complete blindness.

Most new moms experience postpartum baby blues after childbirth, which commonly include mood swings, crying spells, anxiety and difficulty sleeping. Baby blues typically begin within the first two to three days after delivery, and may last for up to two weeks.

Signs and symptoms of baby blues may include:
Mood swings
Anxiety
Sadness
Irritability
Feeling overwhelmed
Crying
Reduced concentration
Appetite problems
Trouble sleeping

The exact cause of the “baby blues” is unknown at this time. It is thought to be related to the hormone changes that occur during pregnancy and again after a baby is born. These hormonal changes may produce chemical changes in the brain that result in depression.
Although the experience of baby blues is unpleasant, the condition usually subsides within two weeks without treatment. All the mom needs is reassurance and help with the baby and household chores.

The likely diagnosis in this case is Haemolytic Uremic Syndrome (HUS), which is generally seen in young children presenting with a triad of symptoms, namely: acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia. The typical cause of HUS is ingestion of a strain of Escherichia coli.

The question describes a patient who has had an ileal resection. Bile acids are reabsorbed in the distal ileum. Since this has been resected in this patient, one would expect her to have malabsorption of bile acids, causing her diarrhoea. This is a more likely correct answer than a Crohn’s flare, bacterial overgrowth, gastroenteritis, or tropical sprue, given the details included in the question prompt.

Pseudomembranous colitis is caused by a C. difficile infection that causes membranes to form on the colon wall. It is caused most commonly by broad-spectrum antibiotics. This would include cephalosporins, broad-spectrum penicillin, and clindamycin. Macrolides and quinolones have also been reported as potential aetiologies, but much less commonly.

Temazepam is an orally available benzodiazepine used in the therapy of insomnia.
The soporific activity of the benzodiazepines is mediated by their ability to enhance gamma-aminobutyric acid (GABA) mediated inhibition of synaptic transmission through binding to the GABA-A receptor.
The recommended initial dose for insomnia is 7.5 mg before bedtime, increasing as needed to a maximum dose of 30 mg.

The most common side effects of temazepam are dose-related and include daytime drowsiness, lethargy, ataxia, dysarthria, and dizziness.
Tolerance develops to these side effects, but tolerance may also develop to the effects on insomnia.

A typical attack may last less than an hour but can also persist for longer. In primary Raynaud’s, attacks are more likely symmetric, episodic, and without evidence of peripheral vascular disease. Patients more commonly have a negative ANA and normal inflammatory markers. There should be no evidence of tissue gangrene, digital pitting, or tissue injury in primary Raynaud’s. In contrast, patients with secondary Raynaud’s will describe attacks that are more frequent, painful, often asymmetric and may lead to digital ulcerations.

The patient’s symptoms are suggestive of ankylosing spondylitis which is often accompanied by iritis, the cause of this patient’s red eye.

Current guidelines recommend the use of ambrisentan, Bosentan (recommendation I, level of evidence A) and macitentan (I, B) in patients with PAH and WHO functional class II and III. In WHO functional class IV, the first-line drug is Epoprostenol and the recommendation for Endothelin receptor antagonists is weaker (IIb, C).

Classically, pheochromocytoma manifests with the following 4 characteristics:
– Headaches
– Palpitations
– Sweating
– Severe hypertension

The Endocrine Society, the American Association for Clinical Chemistry, and the European Society of Endocrinology have released clinical practice guidelines for the diagnosis and management of pheochromocytoma.
Biochemical testing via measurement of plasma free metanephrines or urinary fractionated metanephrines should be performed in patients suspected of having pheochromocytoma.

Catecholamines produced by pheochromocytomas are metabolized within chromaffin cells. Norepinephrine is metabolized to normetanephrine and epinephrine is metabolized to metanephrine. Because this process occurs within the tumour, independently of catecholamine release, pheochromocytomas are best diagnosed by measurement of these metabolites rather than by measurement of the parent catecholamines.

Xeroderma pigmentosum is an X-linked recessive condition, which is caused by mutations in DNA gyrase which further encodes the XP gene. The defect may lead to skin cancer at an early stage of life, especially at photo exposed sites.

Pulmonary alveolar proteinosis (PAP) is a lung condition that is caused by a build-up of proteins and other substances in the alveoli. The alveoli are the part of the lungs that contain air. PAP has the following symptoms:
Shortness of breath, also called dyspnoea
Chest pain or tightness
Fever
Weight loss
Cough (sometimes, but not always)
Low levels of oxygen in the blood
Nail clubbing (abnormal growth of toenails or fingernails)

Serologic studies are generally not useful for PAP. Flexible bronchoscopy with bronchoalveolar lavage (BAL) remains the criterion standard. Elevated levels of the proteins SP-A and SP-D in serum and BAL fluid may be useful. Elevated titer of neutralizing autoantibody against GM-CSF (immunoglobulin G [IgG] isotype) in serum and BAL fluid may be useful. Recent studies have proposed that deficiency of GM-CSF causes pulmonary alveolar proteinosis (PAP); all patients studied had the antibody to GM-CSF. Serum lactate dehydrogenase (LDH) level is usually elevated, but this finding is nonspecific.

High-resolution computed tomography (HRCT) scan of the chest demonstrates areas of patchy ground-glass opacification with smooth interlobular septal thickening and intralobular interstitial thickening, which produces a polygonal pattern referred to as crazy paving.

Light microscopy of the lung parenchymal tissue shows alveoli filled with a granular PAS base-reactive and diastase-resistant eosinophilic material.

The best option would be the combination of ampicillin and gentamycin. Changing to IV amoxicillin+gentamycin is however the best among the given choices here.

Graves’ disease is the most common cause of thyrotoxicosis in pregnancy.

– Poor control of thyrotoxicosis is associated with pregnancy loss, pregnancy-induced hypertension, prematurity, low birth weight, intrauterine growth restriction, stillbirth, thyroid storm, and maternal congestive heart failure.

– Antithyroid drugs are the treatment of choice of hyperthyroidism during pregnancy. The lowest dose of ATD needed to maintain TT4 1.5× the upper limit of the non-pregnant reference range or FT4 at the upper limit of the reference range should be used.
Two different antithyroid drug (ATD) regimens are in common use for Grave’s disease: i) Titration method and ii) Block-and-replace method.
In the titration method, the usual starting dose is 15–30 mg/day methimazole (or equivalent doses of other thionamides); further to periodic thyroid status assessment, daily dose is tapered down to the lowest effective dose (avoiding both hyper- and hypothyroidism).
The block-and-replace method uses persistently high ATD doses in association with L-thyroxine replacement to avoid hypothyroidism; treatment lasts 6 months. This method has advantages and disadvantages over the titration method. Higher doses of ATDs may have a greater immunosuppressive action useful for a permanent remission of hyperthyroidism, but this effect remains to be demonstrated.
Avoidance of hypothyroidism or ‘escape’ of hyperthyroidism seems easier than with the titration method; treatment is shorter, and the number of visits lower. On the other hand, the much higher number of tablets taken every day may create problems of poor compliance. The block-and-replace method should not be used during pregnancy.

– Breastfeeding has been shown to be safe in mothers taking ATDs in appropriate doses.

Macular disease can affect central vision at any stage of diabetic retinopathy and may be seen in type 2 diabetic patients. Diabetic retinopathy affects up to 80 percent of those who have had diabetes for 20 years or more. Macular oedema occurs when damaged blood vessels leak fluid and lipids onto the macula, the part of the retina that lets us see detail. The fluid makes the macula swell, which blurs vision.

Glioblastoma multiforme, also considered as grade IV astrocytoma, is the most malignant form of the tumour and accounts for about 20% of all cerebral tumours. These often remain clinically silent until they have reached a large enough size. In adults, glioblastoma multiforme usually occurs in the cerebral hemispheres, especially the frontal and temporal lobes of the brain. About half occupy more than one hemisphere at presentation, and some are multicentric. Biopsy shows high cellularity with mitoses, pleomorphism, and vascular hyperplasia. Prognosis is extremely poor, with only 20% surviving beyond 1 year and 10% beyond 2 years.

Henoch-Schönlein purpura (HSP) rashes are commonly found on the legs, feet, and buttocks while Immune thrombocytopenia (ITP) rashes manifest predominantly on the lower legs. HSP happens following a sore throat while ITP usually happens following an URTI or Flu. HSP is an inflammation of a blood vessel (vasculitis) while ITP is immune mediated insufficiency of platelets.

Congenital CMV infection can occur when a pregnant woman is infected with the cytomegalovirus (CMV) and passes the virus to her unborn child. Infants infected with CMV during pregnancy can exhibit a range of symptoms, including jaundice, seizures, and microcephaly (abnormally small head size). These symptoms are consistent with congenital CMV infection.

Given the mother’s HIV-positive status, the infant may have been at increased risk of acquiring other infections, including CMV, due to potential immunodeficiency.

A very common complication after ERCP is post-ERCP pancreatitis, which based on the clinical scenario , this man has. The treatment for this is pain control, lots of intravenous fluids, and traditionally bowel rest, although more recent evidence suggests early feeding is better.

Hereditary C1 inhibitor deficiency leads to recurrent angioedema without urticaria or pruritus. Physical triggers include dental work, surgery or intubation. Medical triggers include angiotensin-converting enzyme (ACE) inhibitor, tamoxifen, oestrogen-containing medications (e.g., hormone replacement therapy and oral contraceptives). It is diagnosed on the basis of low levels of C1 esterase inhibitor or elevated levels of dysfunctional C1 esterase inhibitor. C4 levels are low between attacks. IgE levels, eosinophils, skin prick tests and RASTs are helpful in other allergic conditions and asthma but not of use in this case.

Cabergoline, an ergot derivative, is a long-acting dopamine agonist. It is usually better tolerated than Bromocriptine (BEC), and its efficacy profiles are somewhat superior to those of BEC. It offers the convenience of twice-a-week administration, with a usual starting dose of 0.25 mg biweekly to a maximum dose of 1 mg biweekly. Some studies have shown efficacy even with once-a-week dosing. Cabergoline appears to be more effective in lowering prolactin levels and restoring ovulation. Up to 70% of patients who do not respond to BEC respond to cabergoline.

The most probable diagnosis in this patient is conversion disorder.

There may be underlying tension regarding her musical career which could be manifesting as apparent limb weakness.

Conversion disorder typically involves loss of motor or sensory function. The patient doesn’t consciously feign the symptoms (factitious disorder) or seek material gain (malingering). Patients may be indifferent to their apparent disorder – la belle indifference – although this has not been backed up by studies.

Other options:
Unexplained symptoms
There are a wide variety of psychiatric terms for patients who have symptoms for which no organic cause can be found:

Somatization disorder
Multiple physical symptoms present for at least 2 years
the patient refuses to accept reassurance or negative test results

Hypochondriacal disorder
The persistent belief in the presence of an underlying serious disease, e.g. cancer.
The patient again refuses to accept reassurance or negative test results

Dissociative disorder
Dissociation is a process of ‘separating off’ certain memories from normal consciousness
Unlike conversion disorder, it involves psychiatric symptoms e.g. amnesia, fugue, stupor
Dissociative identity disorder (DID) is the new term for multiple personality disorder as is the most severe form of dissociative disorder

Munchausen’s syndrome
Also known as factitious disorder
The intentional production of physical or psychological symptoms

Malingering
Fraudulent simulation or exaggeration of symptoms with the intention of financial or another gain.

When a patient presents with an illness (unrelated to the liver) or a stressful event on the body, and develops asymptomatic jaundice, think Gilbert’s syndrome. It is autosomal dominant. It is an unconjugated hyperbilirubinemia from impaired glucuronyl transferase. Classically, Crigler-Najjar would be in infants, and it would be symptomatic. It is also an unconjugated hyperbilirubinemia.

The most appropriate intervention in this patient is intravenous hydroxocobalamin.
The clinical scenario provided is suggestive of acute cyanide toxicity secondary to burning plastics in the house fire.
Cyanide ions inhibit mitochondrial cytochrome oxidase, preventing aerobic respiration. This manifests in normal oxygen saturations, a high pO2 and flushing (or ‘brick red’ skin) brought on by the excess oxygenation of venous blood. In the question above it is important to note that the blood gas sample given is venous rather than arterial. His blood gas also demonstrates an increased anion gap, consistent with his high lactate (generated by anaerobic respiration due to the inability to use available oxygen).

The recommended treatment for moderate cyanide toxicity in the UK is one of three options: sodium thiosulfate, hydroxocobalamin or dicobalt edetate.

Among the options given is hydroxocobalamin and this is, therefore, the correct answer. Hydroxocobalamin additionally has the best side-effect profile and speed of onset compared with other treatments for cyanide poisoning.

Other options:
– Intubation would be appropriate treatment in the context of airway burns but this patient has no evidence of these, although close monitoring would be advised.
– High-flow oxygen is the treatment for carbon monoxide poisoning – a sensible differential, but this man’s very high lactate and high venous pO2 fit better with cyanide toxicity. Intravenous dexamethasone would be another treatment for airway oedema once an endotracheal tube had been placed.
– Intravenous sodium nitroprusside is a treatment for high blood pressure that can cause cyanide poisoning, and would, therefore, be inappropriate.

Note:

Cyanide may be used in insecticides, photograph development and the production of certain metals. Toxicity results from reversible inhibition of cellular oxidizing enzymes
Clinical presentation:
Classical features: brick-red skin, the smell of bitter almonds
Acute: hypoxia, hypotension, headache, confusion
Chronic: ataxia, peripheral neuropathy, dermatitis

Management:
Supportive measures: 100% oxygen
Definitive: hydroxocobalamin (intravenously), also a combination of amyl nitrite (inhaled), sodium nitrite (intravenously), and sodium thiosulfate (intravenously).