Hypovitaminosis B1, consistent with dry beriberi is crucially a treatable condition, although sometimes with incomplete recovery, but it is probably under-recognized yet increasingly common given increasing levels of alcohol abuse in the western world. Dry beriberi or ‘acute nutritional polyneuropathy’ is considered to be rare in the western world. Rapid deterioration can occur, typically with weakness, paraesthesia and neuropathic pain. Striking motor nerve involvement can occur, mimicking Guillain-Barré syndrome (GBS). In the context of increasing alcohol abuse in the western world, it is possible that alcoholic neuropathy associated with abrupt deterioration due to concomitant nutritional hypovitaminosis B1 may be seen increasingly often.

The carotid body consists of chemosensitive cells at the bifurcation of the common carotid artery that respond to changes in oxygen tension and, to a lesser extent, pH. In contrast to central chemoreceptors (which primarily respond to PaCO2) and the aortic bodies (which primarily have circulatory effects: bradycardia, hypertension, adrenal stimulation, and also bronchoconstriction), carotid bodies are most sensitive to PaO2. At a PaO2 of approximately 55-60 mmHg, they send their impulses via CN IX to the medulla, increasing ventilatory drive (increased respiratory rate, tidal volume, and minute ventilation). Thus, patients who rely on hypoxic respiratory drive will typically have a resting PaO2 around 60 mm Hg.

He has a consequence of atherosclerotic disease (MI). The most probable diagnosis is cutaneous cholesterol emboli as it is more common after anticoagulation or thrombolytics, the skin involvement, eosinophilia and raised IgE. It is more common above 60 yrs. of age.

A retrospective cohort study of the primary care records of 247 lung cancer patients diagnosed between 1998–2002 showed that 10% of the X-rays were reported as normal.
Other tests may include:
– Imaging tests: A CT scan can reveal small lesions in your lungs that might not be detected on an X-ray.
– Sputum cytology: sputum may reveal the presence of lung cancer cells.
– Tissue sample (biopsy): A sample of abnormal cells may be removed for histological analysis. A biopsy may be performed in a number of ways, including bronchoscopy, mediastinoscopy and needle biopsy. A biopsy sample may also be taken from adjacent lymph nodes.

The combination of frequent infections, eczema, and thrombocytopaenia are characteristic of Wiskott-Aldrich syndrome, which is due to an abnormality in the WASP gene. It is an X-linked recessive disorder that causes primary immunodeficiency owing to a combined B- and T-cell dysfunction.

The other listed options are:
1. PKD1: polycystic kidney disease
2. CFTR: cystic fibrosis
3. HFE1: haemochromatosis
4. RET: multiple endocrine neoplasia, Hirschsprung’s disease

1B: Individual Randomised Control Trial (with narrow confidence intervals)

Churg-Strauss disease (CSD) is one of three important fibrinoid, necrotizing, inflammatory leukocytoclastic systemic small-vessel vasculitides that are associated with antineutrophil cytoplasm antibodies (ANCAs).
The first (prodromal) phase of Churg-Strauss disease (CSD) consists of asthma usually in association with other typical allergic features, which may include eosinophilia. During the second phase, the eosinophilia is characteristic (see below) and ANCAs with perinuclear staining pattern (pANCAs) are detected. The treatment would therefore be different from asthma. For most patients, especially those patients with evidence of active vasculitis, treatment with corticosteroids and immunosuppressive agents (cyclophosphamide) is considered first-line therapy

Desmopressin test (done to differentiate nephrogenic diabetes insipidus from central diabetes insipidus), and serum lithium levels can together confirm a diagnosis of lithium-induced nephrogenic diabetes insipidus.

Bipolar disease is most often managed with mood stabilizers like lithium. This patient develops gastrointestinal symptoms followed by an acute confusional state associated with polyuria and polydipsia. These symptoms are suggestive of diabetes insipidus.

In a case where these symptoms occur in a bipolar patient under treatment, lithium-induced nephrogenic diabetes insipidus should be considered as the most probable cause.

Lithium intoxication can present with symptoms of nausea, vomiting, mental dullness, action tremor, weakness, ataxia, slurred speech, blurred vision, dizziness, especially vertical nystagmus and stupor or coma. Diffuse myoclonic twitching and nephrogenic diabetes insipidus can also occur. Such a clinical syndrome occurs above the serum level of lithium of 1.5–2.0 mEq/L.

Management:
– Correcting electrolyte abnormalities in patients with acute disease is critical and often life-saving.
– Treatment should be initiated with parenteral fluids to replete hypovolemia (normal saline at 200-250 mL/h), followed by administration of hypotonic fluid (0.5% normal saline).
– On the restoration of the volume status of the patient forced diuresis should be initiated by the administration of parenteral furosemide or bumetanide accompanied by continued intravenous hypotonic fluid administration to maintain volume status.
– Polyuria is managed with hydrochlorothiazide combined with amiloride, acetazolamide.

Bivalirudin is a competitive, direct thrombin inhibitor. It inhibits both free and clot-bound thrombin and thrombin-induced platelet aggregation. Thrombin enables fibrinogen conversion to fibrin during the coagulation cascade. So inhibition of fibrinogen conversion to fibrin inhibits thrombus development.

Given her history of bowel resections, the most likely answer in this case is short bowel syndrome. IBS is a diagnosis of exclusion and less likely. Bacterial overgrowth does not relate to resection history, so unlikely. Celiac disease or a flare of IBD are also less likely than short bowel syndrome in this case, simply given the history. Also her labs are normal making these unlikely. History, history, history!

Lactic acidosis is occasionally responsible for metabolic acidosis in diabetics. It may occur in the presence of normal blood levels of the ketone bodies, and such cases are often described as having “non-ketotic diabetic acidosis.
It is most commonly associated with tissue hypoperfusion and states of acute circulatory failure.
Appropriate measures include treatment of shock, restoration of circulating fluid volume, improved cardiac function, identification of sepsis source, early antimicrobial intervention, and resection of any potential ischemic regions. Reassessment of lactate levels for clearance assists ongoing medical management.

Pregnancies affected by T1DM are at increased risk for preterm delivery, preeclampsia, macrosomia, shoulder dystocia, intrauterine fetal demise, fetal growth restriction, cardiac and renal malformations, in addition to rare neural conditions such as sacral agenesis.
Successful management of pregnancy in a T1DM patient begins before conception. Research indicates that the implementation of preconception counselling, emphasizing strict glycaemic control before and throughout pregnancy, reduces the rate of perinatal mortality and malformations.
The 2008 bulletin from the National Institute for Health and Clinical Excellence recommends that preconception counselling be offered to all patients with diabetes. Physicians are advised to guide patients on achieving personalized glycaemic control goals, increasing the frequency of glucose monitoring, reducing their HbA1C levels, and recommend avoiding pregnancy if the said level is > 10%.
Other sources suggest deferring pregnancy until HbA1C levels are > 8%, as this margin is associated with better outcomes.

Urea breath test is the most sensitive test to determine if there has been RESOLUTION/ERADICATION of the infection with H. pylori. The best test for initial diagnosis would be EGD with biopsy.

Uric acid stones will most likely be found in this case because of the patient’s long history of gout. Additionally, studies have shown that ileostomy patients have an increased risk for the development of uric acid stones.

Chronic obstructive pulmonary disease (COPD) is a complex and progressive chronic lung disease. Typically, COPD includes emphysema and chronic bronchitis. COPD is characterized by the restriction of airflow into and out of the lungs. The obstruction of airflow makes breathing difficult. The causes of COPD include smoking, long-term exposure to air pollutants and a rare genetic disorder.

The Global Initiative for Chronic Obstructive Lung Disease (GOLD) developed the GOLD Staging System. In the GOLD System, the forced expiratory volume in one second (FEV1) measurement from a pulmonary function test is used to place COPD into stages. Often, doctors also consider your COPD symptoms.

COPD has four stages. The stages of COPD range from mild to very severe. COPD affects everyone differently. Because COPD is a progressive lung disease, it will worsen over time.
The Stages of COPD:
Mild COPD or Stage 1—Mild COPD with a FEV1 about 80 percent or more of normal.
Moderate COPD or Stage 2—Moderate COPD with a FEV1 between 50 and 80 percent of normal.
Severe COPD or Stage 3—Severe emphysema with a FEV1 between 30 and 50 percent of normal.
Very Severe COPD or Stage 4—Very severe or End-Stage COPD with a lower FEV1 than Stage 3, or people with low blood oxygen levels and a Stage 3 FEV1.

This patient has a FEV1 percent of 63 which falls within the stage 2 or moderate COPD.

Urticaria is a group of disorders that share a distinct skin reaction pattern, namely the occurrence of itchy wheals anywhere on the skin. Wheals are short-lived elevated erythematous lesions ranging from a few millimetres to several centimetres in diameter and can become confluent. The itching can be prickling or burning and is usually worse in the evening or night time. Triggering of urticaria by infections has been discussed for many years but the exact role and pathogenesis of mast cell activation by infectious processes is unclear.

The patient presents with worsened renal condition from the last consultation when he was started on enalapril (an ACE inhibitor) so this medication should be stopped. Because there is also no fluid overload; furosemide, a diuretic, should also be stopped.

Up to 10% of postpartum women may develop lymphocytic thyroiditis (postpartum thyroiditis) in the 2-12 months after delivery. The frequency may be as high as 25% in women with type 1 diabetes mellitus.

Some patients return spontaneously to a euthyroid state within a few months, but most patients experience a phase of hypothyroidism that takes 2 to 6 months to resolve; of this group, some develop permanent hypothyroidism. About 50% of patients, however, will develop permanent hypothyroidism within 5 years of the diagnosis of postpartum thyroiditis.

High titres of anti-TPO antibodies during pregnancy have been reported to have high sensitivity and specificity for postpartum autoimmune thyroid disease.

Exposure to aniline dyes is a risk factor for transitional cell carcinoma. Aniline dyes are used in dyestuffs and pigment manufacturing.

The other aforementioned options are ruled out because:
1. Feed production may expose to aflatoxin (hepatocellular carcinoma).

2. Being a military personnel may expose to mustard gas (lung cancer).

3. Rubber industry may expose to nitrosamines (oesophageal and gastric cancer).

4. Refrigerant production before 1974 may expose to vinyl chloride (hepatic angiosarcoma).

The combination of APTT and low platelets with recurrent DVTs make antiphospholipid syndrome the most likely diagnosis.

Secretin stimulates bicarbonate secretion from the pancreas and liver. VIP induces relaxation of the stomach and gallbladder, secretion of water into pancreatic juice/ bile, and inhibits gastric acid secretion/absorption. CCK classically stimulates gallbladder contraction and relaxation of the sphincter of Oddi. Gastrin stimulates the secretion of HCl by parietal cells in the stomach. Motilin, as the name suggests, increases motility.

NICE guidelines on hypercalcemia recommend that maintaining good hydration equals drinking 3-4 L of fluid/day, provided there are no contraindications. A low calcium diet is not necessary because intestinal absorption of calcium is reduced. The patient should avoid any other drugs or vitamins that could worsen the hypercalcemia. Mobilization is encouraged and any symptoms of hypercalcemia should be reported.

Herpes zoster oticus is a viral infection of the inner, middle, and external ear. It manifests as severe otalgia with associated cutaneous vesicular eruption, usually of the external canal and pinna. When associated with facial paralysis, the infection is called Ramsay Hunt syndrome.

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.

Hepatitis B full vaccine and Ig should be given to babies born to hepatitis B positive mothers. Hepatitis B vaccine alone or Ig alone is not sufficient to prevent the infection in the new-born baby.

Gaucher’s disease is characterized by hepatosplenomegaly, cytopenia, sometimes severe bone involvement and, in certain forms, neurological impairment. The variability in the clinical presentations of GD may be explained by the continuum of phenotypes. However, three major phenotypic presentations can usually be distinguished. Type-1 GD is usually named non-neuronopathic GD; type-2 and type-3 are termed neuronopathic-GD. Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages.

Fundoscopy reveals flame-shaped haemorrhages which are specific to central retinal vein occlusion (CRVO). In CRA thrombosis, fundoscopy would show a cherry-red spot. A patient with retinal detachment would give a characteristic history of seeing flashes of light and floaters. Background retinopathy is associated with diabetes.

Botulinum toxin is a neurotoxic protein from Clostridium botulinum that causes flaccid paralysis as it acts by preventing the release of Ach at the neuromuscular joint. It is the first-line treatment for cervical dystonia (torticollis) because the condition is a neurological disorder characterised by unusual muscle contractions of the neck. With the use of Botulinum toxin, the contractions would be released.

Obsessive-Compulsive Disorder (OCD) is a common, chronic and long-lasting disorder in which a person has uncontrollable, reoccurring thoughts (obsessions) and behaviours (compulsions) that he or she feels the urge to repeat over and over.
People with OCD may have symptoms of obsessions, compulsions, or both. These symptoms can interfere with all aspects of life, such as work, school, and personal relationships.

Obsessions are repeated thoughts, urges, or mental images that cause anxiety. Common symptoms include:
Fear of germs or contamination
Unwanted forbidden or taboo thoughts involving sex, religion, and harm
Aggressive thoughts towards others or self
Having things symmetrical or in a perfect order

Compulsions are repetitive behaviours that a person with OCD feels the urge to do in response to an obsessive thought. Common compulsions include:
-Excessive cleaning and/or handwashing
-Ordering and arranging things in a particular, precise way
-Repeatedly checking on things, such as repeatedly checking to see if the door is locked or that the oven is off
-Compulsive counting

Research also shows that a type of CBT called Exposure and Response Prevention (ERP) is effective in reducing compulsive behaviours in OCD, even in people who did not respond well to SRI medication. ERP has become the first-line psychotherapeutic treatment for OCD

Cisplatin is a cytotoxic agent that acts by causing cross-linking in DNA. Its adverse effects include ototoxicity, peripheral neuropathy, hypomagnesaemia, etc.

The causative cytotoxic agents acting through the other aforementioned MOAs are as follows:

1. Doxorubicin: Stabilizes DNA topoisomerase II complex and inhibits DNA and RNA synthesis.

2. Hydroxyurea (hydroxycarbamide): Inhibits ribonucleotide reductase, decreasing DNA synthesis.

3. Mercaptopurine (6-MP): Purine analogue that is activated by HGPRTase, decreasing purine synthesis.

4. Vincristine, vinblastine: Inhibits formation of microtubules.