The common congenital infections encountered are rubella, toxoplasmosis and cytomegalovirus. Cytomegalovirus is the most common congenital infection in the UK. Maternal infection is usually asymptomatic.
Congenital toxoplasmosis is associated with fetal death and abortion, and in infants, it is associated with neurologic deficits, neurocognitive deficits, and chorioretinitis.

Renal osteodystrophy is a metabolic bone disease often affecting long-term dialysis patients. The kidneys are no longer able to maintain the calcium levels in the blood, thus the PTH increases as the body attempts to raise blood calcium levels. Osteomalacia in these cases is most likely caused by the diminished activity of renal 1-a-hydroxylase that is important for hydroxylation of Calciferol to calcitriol (Vitamin D). This bioactive form of Vitamin D is responsible for increasing intestinal absorption of calcium.

Hashimoto thyroiditis is part of the spectrum of autoimmune thyroid diseases (AITDs) and is characterized by the destruction of thyroid cells by various cell- and antibody mediated immune processes. It usually presents with hypothyroidism, insidious in onset, with signs and symptoms slowly progressing over months to years.

The diagnosis of Hashimoto thyroiditis relies on the demonstration of circulating antibodies to thyroid antigens (mainly thyroperoxidase and thyroglobulin) and reduced echogenicity on thyroid sonogram in a patient with proper clinical features.

Erythropoietin (EPO) is used to distinguish between primary and secondary polycythaemia. Secondary polycythaemia can be caused by tumours in the kidney that may secrete EPO or EPO-like proteins.

Clubbing of the fingers can be present in many clinical conditions like CLD, bronchiectasis, lung abscess, Ulcerative colitis and Crohn’s Disease.

Koilonychia or spoon shaped nails are a typical finding in iron deficiency anaemia.

Splinter haemorrhages are pin point haemorrhages found in infective endocarditis and secondary to trauma.

Yellow nails are present in pulmonary and renal disease.

Indapamide is a mild thiazide-like diuretic with hypotensive effect, and compared to other thiazides, it is reported to also have less metabolic derangements. However, it may have beneficial hypo-calciuric effects that are often associated with thiazides, thus, in this case, we would recommend prescribing this to the patient.

The patient has a recent history of bleeding peptic ulcer disease, which is an absolute contraindication for thrombolysis. So he should be offered primary angioplasty.

The clinical presentation is suggestive of congenital rubella syndrome. The classic triad of presenting symptoms includes sensorineural hearing loss, ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy) and congenital heart disease (patent ductus arteriosus and pulmonary artery stenosis). Other findings in congenital rubella syndrome include CNS abnormalities (mental retardation, behavioural disorders, encephalographic abnormalities, hypotonia, meningoencephalitis, and microcephaly), hepatosplenomegaly, and jaundice.

There are five prognostic factors which indicate poor prognosis in HOCM:
-family history of HOCM-related sudden cardiac death
-unexplained recent syncope
-large left ventricular wall thickness (MLVWT ≥ 30 mm)
-multiple bursts of nsVT on ambulatory electrocardiography
-hypotensive or attenuated blood pressure response to exercise

Narcolepsy is a rare condition characterised by excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations, and cataplexy (sudden collapse triggered by emotion such as laughing or crying). There is no cure for narcolepsy. Treatment options include stimulants, such as methylphenidate (Ritalin) or modafinil (Provigil), antidepressants, such as fluoxetine (Prozac), citalopram (Celexa), paroxetine (Paxil), sertraline (Zoloft) and sodium oxybate (Xyrem). Modafinil has replaced methylphenidate and amphetamine as the first-line treatment of excessive daytime sleepiness (EDS).

The clinical picture points to Lambert– Eaton myasthenic syndrome (LEMS) which often presents with weakness of the arms and legs. In LEMS, antibodies against voltage-gated calcium channels (VGCC) decrease the amount of calcium that can enter the nerve ending, causing autonomic symptoms like dry mouth and slurring of speech, as seen in this patient.

The patient is most likely to have Medullary Thyroid Carcinoma (MTC).
Sporadic, or isolated MTC accounts for 75% of cases and inherited MTC constitutes the rest.
Inherited MTC occurs in association with multiple endocrine neoplasia (MEN) type 2A and 2B syndromes, but non-MEN familial MTC also occurs.
A 24-hour urinalysis for catecholamine metabolites (e.g., vanillylmandelic acid [VMA], metanephrine) has to be done to rule out concomitant pheochromocytoma in patients with MEN type 2A or 2B, as Pheochromocytoma must be treated before MTC.

An overall concordance rate in monozygotic twins was documented to be 25% as compared to dizygotic twins with 3%. First degree relatives have a chance of around 3% of developing the disease. Caucasians show an increase frequency of HLA-B8. The Japanese lupus patients had a stronger association with HLA-DR2.

Dacryocystitis is an infection of the lacrimal sac, secondary to obstruction of the nasolacrimal duct at the junction of lacrimal sac. It causes pain, redness, a watering eye (epiphora), and swelling and erythema at the inner canthus of the eye. Management is with systemic antibiotics. IV antibiotics are indicated if there is associated periorbital cellulitis.

Caplan’s syndrome is defined as the association between silicosis and rheumatoid arthritis (RA). It is rare and usually diagnosed in an advanced stage of RA. It generally affects patients with a prolonged exposure to silica.

Caplan’s syndrome presents with rheumatoid lung nodules and pneumoconiosis. Originally described in coal miners with progressive massive fibrosis, it may also occur in asbestosis, silicosis and other pneumoconiosis. Chest radiology shows multiple, round, well defined nodules, usually 0.5 – 2.0 cm in diameter, which may cavitate and resemble tuberculosis.

Memantine is an antagonist of the NMDA (N-Methyl-D-Aspartate)-receptor subtype of glutamate receptor. It is used to slow the neurotoxicity thought to be involved in Alzheimer’s disease and other neurodegenerative diseases.

Drug interactions:
When given concomitantly with other NMDA-receptor antagonists (e.g., ketamine, amantadine) increase the risk of psychosis.
Dopamine agonists, L-dopa, and anticholinergics enhance effects of memantine.
Antispasmodics (e.g., baclofen)  enhance effects, as memantine has some antispasmodic effects.
Drugs excreted by cationic transporters in the kidney (e.g. quinine, cimetidine, ranitidine) reduce excretion.

Common adverse effects include dizziness, headache, confusion, diarrhoea, and constipation.

Androgen insensitivity syndrome (AIS), previously referred to as testicular feminization, is an X-linked disorder in which the patients are genotypically male (possessing and X and Y chromosome) and phenotypically female. This disorder is rare, with reported incidences from 1 in 20,000 to 1 in 60,000 live male births, and is the result of a missing gene on the X chromosome that is responsible for the cytoplasmic or nuclear testosterone receptor. In its absence, the gonad, which is a testis, produces normal amounts of testosterone; however, the end tissues are unable to respond due to the deficient receptors leading to the external genitalia developing in a female fashion. Anti-mullerian hormone, which is produced by the testis, is normal in these patients, leading to regression of the Mullerian duct. Wolffian duct development, which depends on testosterone, does not occur as the ducts lack the receptors.
The cumulative effect is a genotypic male with normal external female genitalia (without pubic or axillary hair), no menses, normal breast development, short or absent vagina, no internal sex organs, and the presence of testis. Frequently, these patients have bilateral inguinal hernias in childhood, and their presence should arouse suspicion of the diagnosis.

The oedema is an effect of the a decreased cardiac output that increases renin release which leads to vasoconstriction and sodium and water retention.

The patient is displaying signs and symptoms of hyperviscosity syndrome, secondary to the Waldenström’s macroglobulinemia. Treatment of choice is plasmapheresis.

Waldenström’s macroglobulinemia (also called lymphoplasmacytic lymphoma) is an uncommon type of non-Hodgkin lymphoma seen in older people. It is a lymphoplasmacytoid malignancy characterised by the secretion of a monoclonal IgM paraprotein. Its features include monoclonal IgM paraproteinemia; hyperviscosity syndrome leading to bilateral central retinal vein occlusion (CRVO) and hence, visual disturbances; weight loss and lethargy; hepatosplenomegaly and lymphadenopathy; and cryoglobulinemia. It is not, however, associated with bone pain.

The cytotoxic drug bleomycin can cause bleomycin-induced pneumonitis (BIP). It usually occurs during chemotherapy but can also occur up to six months post-therapy.

The patient has spinal cord compression until proven otherwise. Urgent assessment is required.

Spinal cord compression is an oncological emergency and affects up to 5% of cancer patients. Extradural compression accounts for the majority of cases, usually due to vertebral body metastases. One of the most common causes of spinal cord compression is osteoarthritis. It is also more commonly seen in patients with lung, breast, or prostate cancer.

Clinical features include:
1. Back pain: the earliest and most common symptom, may worsen on lying down or coughing
2. Lower limb weakness
3. Sensory changes: sensory loss and numbness
4. Neurological signs: depending on the level of the lesion.
Lesions above L1 usually result in upper motor neurone signs in the legs. Lesions below L1 usually cause lower motor neurone signs in the legs and perianal numbness. Tendon reflexes are increased below the level of the lesion and absent at the level of the lesion.

Management options are:
1. High-dose oral dexamethasone
2. Urgent MRI for consideration of radiotherapy or surgery

Gilles de la Tourette syndrome is the most severe and rare of the tic syndromes, consisting of multiple tics involving both motor actions and vocalisation. Onset is usually in childhood. Symptoms include utterance of obscenities (coprolalia); echolalia (repetition of another person’s spoken words) and palilalia (involuntary repetition of words, phrases, or sentences).
The underlying cause is unknown, with no particular imaging or standard histopathological abnormalities having been identified. The EEG shows non-specific abnormalities in about half of patients. However, more recent immunocytochemical studies have suggested altered dopamine uptake in the striatal system.
Risperidone is an effective therapeutic option without the effects associated with chlorpromazine and haloperidol.

Because of the patient’s presentation with flank pain that radiates to the groin, we are suspecting renal colic. We should follow guidelines for acute renal management and prescribe IM diclofenac for immediate relief of pain.

Cystic fibrosis (CF) is a multisystemic, autosomal recessive disorder that predominantly affects infants, children, and young adults. CF is the most common life-limiting genetic disorder in whites, with an incidence of 1 case per 3200-3300 new-borns in the United States.

People with CF can have a variety of symptoms, including:
Very salty-tasting skin
Persistent coughing, at times with phlegm
Frequent lung infections including pneumonia or bronchitis
Wheezing or shortness of breath
Poor growth or weight gain in spite of a good appetite
Frequent greasy, bulky stools or difficulty with bowel movements
Male infertility

Signs of bronchiectasis include the tubular shadows; tram tracks, or horizontally oriented bronchi; and the signet-ring sign, which is a vertically oriented bronchus with a luminal airway diameter that is 1.5 times the diameter of the adjacent pulmonary arterial branch.

Bronchiectasis is characterized by parallel, thick, line markings radiating from hila (line tracks) in cylindrical bronchiectasis. Ring shadows represent dilated thick-wall bronchi seen in longitudinal section or on-end or dilated bronchi in varicose bronchiectasis.

Pseudomonas aeruginosa is the key bacterial agent of cystic fibrosis (CF) lung infections, and the most important pathogen in progressive and severe CF lung disease. This opportunistic pathogen can grow and proliferate in patients, and exposure can occur in hospitals and other healthcare settings.

Haemophilus influenzae is regularly involved in chronic lung infections and acute exacerbations of CF patients

Prednisolone although has many undesirable side effects it may be considered relatively safe compared to the drugs that are provided here. Prolonged treatment with sulphasalazine may depress semen quality and cause irreversible infertility. Methotrexate and leflunomide both inhibit purine/pyrimidine synthesis (the former by inhibiting folate metabolism) and are contraindicated in pregnancy or while trying to conceive. In males, a temporary or permanent decrease in sperm count may occur with cyclophosphamide. Because the recovery of fertility after cyclophosphamide therapy is variable, sperm banking should be considered before treatment is begun.

Risk factors specific to depression:
-Family history of mental disorder.
-History of previous suicide attempts (this includes self-harm).
-Severe depression.
-Anxiety.
-Feelings of hopelessness.
-Personality disorder.
-Alcohol abuse and/or drug abuse.
-Male gender.

Protective Factors for Suicide.
Protective factors buffer individuals from suicidal thoughts and behaviour. To date, protective factors have not been studied as extensively or rigorously as risk factors. Identifying and understanding protective factors are, however, equally as important as researching risk factors.

Protective Factors:
-Effective clinical care for mental, physical, and substance abuse disorders
-Easy access to a variety of clinical interventions and support for help seeking
-Family and community support (connectedness)
-Support from ongoing medical and mental health care relationships
-Skills in problem solving, conflict resolution, and nonviolent ways of handling disputes
-Cultural and religious beliefs that discourage suicide and support instincts for self-preservation

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.

Diabetic dermadromes constitute a group of cutaneous conditions commonly seen in people with diabetes with longstanding disease. Conditions included in this group are:
– Acral dry gangrene
– Carotenosis
– Diabetic dermopathy
– Diabetic bulla
– Diabetic cheiroarthropathy
– Malum perforans
– Necrobiosis lipoidica
– Limited joint mobility
– Scleroderma
– Waxy skin is observed in roughly 50%.

Sweet’s syndrome is also known as acute febrile neutrophilic dermatosis has a strong association with acute myeloid leukaemia. It is not associated with diabetes mellitus.

A Mongolian spot can be present in new born babies which usually appears over the back and fades with time. There is nothing to worry about.

The patient has hyperthyroidism and its most common cause is Grave’s Disease.
Grave’s Disease is an autoimmune disease due to circulating autoantibodies known as TSH receptor stimulating autoantibodies or Thyroid-stimulating immunoglobulins (TSIs) that bind to and activate thyrotropin receptors, causing the thyroid gland to grow and the thyroid follicles to increase the synthesis of thyroid hormone.