The patient most likely has Klinefelter’s syndrome.
Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. XXY aneuploidy, the most common human sex chromosome disorder. It is also the most common chromosomal disorder associated with male hypogonadism and infertility.
Klinefelter syndrome is characterized by hypogonadism (micro-orchidism, oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioural concerns.

Neutrophilia is also commonly associated with polycythaemia vera.

Polycythaemia vera (PV), also known as polycythaemia rubra vera, is a myeloproliferative disorder caused by clonal proliferation of marrow stem cells leading to an increase in red cell volume, often accompanied by overproduction of neutrophils and platelets. It has peak incidence in the sixth decade of life, with typical features including hyperviscosity, pruritus, splenomegaly, haemorrhage (secondary to abnormal platelet function), and plethoric appearance.

Some management options of PV include lose-dose aspirin, venesection (first-line treatment), hydroxyurea (slightly increased risk of secondary leukaemia), and radioactive phosphorus (P-32) therapy.

In PV, thrombotic events are a significant cause of morbidity and mortality. 5–15% of the cases progress to myelofibrosis or AML. The risk of having AML is increased with chemotherapy treatment.

Haemophilia is a X-linked recessive disorder. In X-linked recessive inheritance only males are affected. An exception to this seen in examinations are patients with Turner’s syndrome, who are affected due to only having one X chromosome. X-linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.

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.

This patient has a poorly controlled T2DM with an underlying diabetic nephropathy. The histological findings are Kimmelstiel-Wilson lesions (nodular glomerulosclerosis) and hyaline arteriosclerosis. This is due to nonenzymatic glycosylation.

Diabetic nephropathy is the chronic loss of kidney function occurring in those with diabetes mellitus. Protein loss in the urine due to damage to the glomeruli may become massive, and cause a low serum albumin with resulting generalized body swelling (edema) and result in the nephrotic syndrome. Likewise, the estimated glomerular filtration rate (eGFR) may progressively fall from a normal of over 90 ml/min/1.73m2 to less than 15, at which point the patient is said to have end-stage kidney disease (ESKD). It usually is slowly progressive over years.

People aged 16 or over are entitled to consent to their own treatment. This can only be overruled in exceptional circumstances. Children under the age of 16 can consent to their own treatment if they’re believed to have enough intelligence, competence and understanding to fully appreciate what’s involved in their treatment. This is known as being Gillick competent.

Otherwise, someone with parental responsibility can consent for them.
This could be:
the child’s mother or father
the child’s legally appointed guardian
a person with a residence order concerning the child
a local authority designated to care for the child
a local authority or person with an emergency protection order for the child.
Giving the blood transfusion is therefore both clinically and ethically the right course of action.
Jehovah’s Witnesses frequently carry a signed and witnessed Advance Decision Document listing the blood products and autologous procedures that are, or are not, acceptable to them It is appropriate to have a frank, confidential discussion with the patient about the potential risks of their decision and the possible alternatives to transfusion, but the freely expressed wish of a competent adult must always be respected.

Tumour marker CA 15-3 is mostly associated with breast cancer.

Tumour markers can be divided into:
1. Monoclonal antibodies
CA 125: Ovarian cancer, primary peritoneal cancer
CA 19-9: Pancreatic cancer
CA 15-3: Breast cancer

2. Tumour specific antigens
Prostate specific antigen (PSA): Prostatic carcinoma
Alpha-feto protein (AFP): Hepatocellular carcinoma, teratoma
Carcinoembryonic antigen (CEA): Colorectal cancer
S-100: Melanoma, schwannomas
Bombesin: Small cell lung carcinoma, gastric cancer

3. Enzymes
Alkaline phosphatase (ALP)
Neuron specific enolase (NSE)

4. Hormones
Calcitonin
Antidiuretic hormone (ADH)
Human chorionic gonadotropin (hCG)

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 two statements that fit the characteristics of doxapram are, epilepsy is a contraindication for doxapram use and concurrent use with theophylline may increase agitation.

Doxapram is a central respiratory stimulant. In clinical practice, doxapram is usually used for patients who have an acute exacerbation of chronic obstructive pulmonary disease (COPD) who are unsuitable for admission to the intensive therapy unit for ventilatory support. Doxapram infusion may buy an extra 24 h to allow for recovery.

Contraindications include: ischaemic heart disease, epilepsy, cerebral oedema, acute stroke, asthma, hypertension, hyperthyroidism, and pheochromocytoma.
The infusion may worsen agitation and dyspnoea and lead to hypertension, nausea, vomiting and urinary retention.

Drug interactions:
Concomitant administration of doxapram and aminophylline (theophylline) can cause increased skeletal muscle activity, agitation, and hyperactivity.

Contact dermatitis is a red, itchy rash caused by direct contact with a substance or an allergic reaction to it. The entry of allergen into the epidermis or dermis causes a localized allergic reaction. Local mast-cell activation in the skin leads immediately to a local increase in vascular permeability, which causes extravasation of fluid and swelling. Histamine released by mast cells activated by allergen in the skin causes large, itchy, red swellings of the skin.

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.

Myotonic dystrophy is the most likely diagnosis here.
It is a multisystem disorder causing cognitive impairment, cataracts, cardiac problems and testicular atrophy, as well as affecting the muscles. Patients have muscle weakness, normally worse distally, and/or myotonia (which is worse in cold weather).
On examination, patients may also have frontal balding, a myopathic facies, bilateral ptosis, an ophthalmoplegia and wasting of facial muscles and other limb muscles. Myotonic dystrophy is associated with diabetes mellitus and pituitary dysfunction.
Diagnosis is normally based on clinical features with a characteristic electromyogram (EMG) of myotonic discharges. Creatine kinase is generally normal and muscle biopsy is non-specific.

Pulmonary metastasis is seen in 20-54% of extrathoracic malignancies. The lungs are the second most frequent site of metastases from extrathoracic malignancies. Twenty percent of metastatic disease is isolated to the lungs. The development of pulmonary metastases in patients with known malignancies indicates disseminated disease and places the patient in stage IV in TNM (tumour, node, metastasis) staging systems.
Chest radiography (CXR) is the initial imaging modality used in the detection of suspected pulmonary metastasis in patients with known malignancies. Chest CT scanning without contrast is more sensitive than CXR.
Breast, colorectal, lung, kidney, head and neck, and uterus cancers are the most common primary tumours with lung metastasis at autopsy. Choriocarcinoma, osteosarcoma, testicular tumours, malignant melanoma, Ewing sarcoma, and thyroid cancer frequently metastasize to lung, but the frequency of these tumours is low.

Relative risk reduction (RRR) tells you by how much the treatment reduced the risk of bad outcomes relative to the control group who did not have the treatment. In the previous example, the relative risk reduction of fever and rash in the group of the children on the intervention was 40 per cent (1 – 0.6 = 0.4 or 40 per cent). RRR = (EER -CER) / CER = (0.1 – 0.4) / 0.4 = -0.75 or 75% reduction.

A t test is a type of statistical test that is used to compare the means of two groups. It is one of the most widely used statistical hypothesis tests in pain studies. There are two types of statistical inferences: parametric and nonparametric methods. Parametric methods refer to a statistical technique in which one defines the probability distribution of probability variables and makes inferences about the parameters of the distribution. In cases in which the probability distribution cannot be defined, nonparametric methods are employed. T tests are a type of parametric method; they can be used when the samples satisfy the conditions of normality, equal variance, and independence. In this case the data is parametric, comparing two independent samples from the same population.

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.

Protein-calorie malnutrition is observed in almost 50% of dialysis patients, contributing to increased morbidity and mortality. All the other complications listed can usually be prevented thanks to modern-day dialysis techniques.

Initiation of allopurinol treatment during an attack can exacerbate and prolong the episode. Thus treatment should be delayed until the attack resolves.

Treatment with ARB or ACE-I may slow further deterioration in renal function in this patient, as studies have shown that blocking of the RAS in type 2 diabetic patients improve renal function.

The thymus is a lymphoid organ located in the anterior mediastinum. In early life, the thymus is responsible for the development and maturation of cell-mediated immunologic functions. The thymus is composed predominantly of epithelial cells and lymphocytes. Precursor cells migrate to the thymus and differentiate into lymphocytes. Most of these lymphocytes are destroyed, with the remainder of these cells migrating to tissues to become T cells.
DiGeorge’s syndrome (DGS) is a developmental abnormality affecting the thymus. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia).

Again, remember the Hepatitis B serologies: In chronic hepatitis B infection, you have +HBsAg, +anti-HBc, (-)IgM antiHBc, and (-) anti-HBs. In acute hepatitis B infection, you have +HBsAg, + anti-HBc, + IgM anti-HBc, and negative anti-HBs. In immunity due to natural infection, you have negative HBsAg, + anti-HBc, and + anti-HBs. In immunity due to vaccination, you have negative HBsAg, negative anti-HBc, and positive anti-HBs. IN THIS CASE, the person is HBsAg+ for 6 months and everything else is negative, normal transaminase. They do not need antiviral therapy, but their serology should be monitored serially. There would be no reason to do a liver biopsy.

Infection of chickenpox in the first half of pregnancy can result in congenital varicella syndrome. It presents as cerebral, cortical and cerebellar hypoplasia with convulsions and rudimentary digits. Prevention is by administering varicella vaccine, even before pregnancy. Varicella immunoglobulin is administered to pregnant women who are exposed to infection. Infection during pregnancy is treated with acyclovir.

It is proven that spironolactone has survival benefits and loop diuretics only give symptomatic relief. Beta blockers are however, known to improve exercise tolerance, left ventricular function and reduce symptoms. They also reduce the mortality associated with heart failure. So administration of beta blockers will reduce the time spent in hospital by improving symptoms.

Among the given options the most appropriate management in this patient would be ethanol and haemodialysis.

Ethanol competes with ethylene glycol for alcohol dehydrogenase and thus, helps manage a patient with ethylene glycol toxicity.

Ethylene glycol is a type of alcohol used as a coolant or antifreeze
Features of toxicity are divided into 3 stages:
Stage 1: (30 min to 12 hours after exposure) Symptoms similar to alcohol intoxication: confusion, slurred speech, dizziness (CNS depression)
Stage 2: (12 – 48 hours after exposure) Metabolic acidosis with a high anion gap and high osmolar gap. Also tachycardia, hypertension
Stage 3: (24 – 72 hours after exposure) Acute renal failure

Management has changed in recent times:
Fomepizole, an inhibitor of alcohol dehydrogenase, is now used first-line in preference to ethanol.
Ethanol has been used for many years works by competing with ethylene glycol for the enzyme alcohol dehydrogenase this limits the formation of toxic metabolites (e.g. glycolaldehyde and glycolic acid) which are responsible for the hemodynamic/metabolic features of poisoning.
Haemodialysis has a role in refractory cases.

The Smooth endoplasmic reticulum (ER) is the major site at which membrane lipids are synthesized in eukaryotic cells. Because they are extremely hydrophobic, lipids are synthesized in association with already existing cellular membranes rather than in the aqueous environment of the cytosol. Although some lipids are synthesized in association with other membranes, most are synthesized in the ER. They are then transported from the ER to their ultimate destinations either in vesicles or by carrier proteins.

Dermatomyositis is a long-term inflammatory disorder which affects muscles. Its symptoms are generally a skin rash and worsening muscle weakness in the proximal muscles (for example, the shoulders and thighs) over time. These may occur suddenly or develop over months. Other symptoms may include weight loss, fever, lung inflammation, or light sensitivity. Complications may include calcium deposits in muscles or skin.
The skin rash may manifest as aheliotrope (a purplish color) or lilac, but may also be red. It can occur around the eyes along with swelling, as well as the upper chest or back ( shawl sign) or V-sign above the breasts and may also occur on the face, upper arms, thighs, or hands. Another form the rash takes is called Gottron’s sign which are red or violet, sometimes scaly, slightly raised papules that erupt on any of the finger joints (the metacarpophalangeal joints or the interphalangeal joints)

Sun burn reactions usually occur after individuals with a light skin tone have prolonged exposure to the sun. The usual symptoms are redness and itching of the skin. The best treatment plan would be further avoidance of sun exposure and the topical application of emollients. These are Ist degree burns and aggressive therapy is not required in such cases.

Warfarin is contraindicated during pregnancy due to its teratogenic effects. She should be given heparin throughout her pregnancy. It can be converted to warfarin if necessary after the delivery.

Computed tomographic pulmonary angiography (CTPA) is the standard investigative tool, used for diagnosing a pulmonary embolism. Pulmonary angiography is indicated if CTPA is not available.

The patients high morning blood sugar levels are suggestive to Somogyi Phenomenon which suggests that hypoglycaemia during the late evening induced by insulin could cause a counter regulatory hormone response that produces hyperglycaemia in the early morning.
Substitution of regular insulin with an immediate-acting insulin analogue, such as Humulin lispro, may be of some help.

Normal distribution, also known as the Gaussian distribution, is a probability distribution that is symmetric about the mean. The normal distribution has the following properties:
– It is symmetric around the mode, the median and the mean of the distribution.
– It is unimodal
– The area under the curve and over the x-axis is unity (i.e. equal to one).
– Its density has two inflection points.
– Its density is log-concave.
The standard deviation (SD) is a measure of how much dispersion exists from the mean. SD = square root (variance)

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.

The correct course of action after giving terlipressin and resuscitating with IV fluids is to perform an EGD with endoscopic variceal band ligation. According to NICE: ‘Offer endoscopic variceal band ligation for the primary prevention of bleeding for people with cirrhosis who have medium to large oesophageal varices. There are serious complications of a TIPS procedure and it is not the first line treatment.

Charcot arthropathy is a progressive condition of the musculoskeletal system that is characterized by joint dislocations, pathologic fractures, and debilitating deformities. It results in progressive destruction of bone and soft tissues at weight-bearing joints. In its most severe form, it may cause significant disruption of the bony architecture.
Charcot arthropathy can occur at any joint; however, it occurs most commonly in the lower extremity, at the foot and ankle. Diabetes is now considered to be the most common aetiology of Charcot arthropathy.

Polycythaemia vera (PV) is associated with a low ESR.

PV, also known as polycythaemia rubra vera, is a myeloproliferative disorder caused by clonal proliferation of marrow stem cells leading to an increase in red cell volume, often accompanied by overproduction of neutrophils and platelets. It has peak incidence in the sixth decade of life, with typical features including hyperviscosity, pruritus, splenomegaly, haemorrhage (secondary to abnormal platelet function), and plethoric appearance. PV is associated with a low ESR.

Some management options of PV include lose-dose aspirin, venesection (first-line treatment), hydroxyurea (slightly increased risk of secondary leukaemia), and radioactive phosphorus (P-32) therapy.

In PV, thrombotic events are a significant cause of morbidity and mortality. 5–15% of the cases progress to myelofibrosis or acute myeloid leukaemia (AML). The risk of having AML is increased with chemotherapy treatment.

Rheumatoid arthritis is a polyarthritis that results in symmetrical pain and swelling of the affected joints (also at rest). It particularly affects the metacarpophalangeal joints (MCPJs) and proximal interphalangeal joints (PIPJs), not the distal interphalangeal joints (DIPs).
Ulcerative colitis and IBD are associated with seronegative arthritides, not RA. The condition can also cause various extra-articular manifestations such as ocular symptoms, rheumatoid nodules and pulmonary fibrosis. Scleritis, episcleritis and keratoconjunctivitis sicca are more common than uveitis. Early intervention with disease-modifying antirheumatic drugs (DMARDs) plays a decisive role in successful treatment.

Intracranial pressure (ICP) is a complex brain modality that determines cerebral perfusion pressure (CPP), which is the difference between arterial blood pressure (ABP), and ICP. Raised ICP reduces CPP and blood delivery to the brain. This jeopardizes cerebral function and organismal survival in many species. A massive rise in ICP is also known to produce an increase in ABP, bradycardia and respiratory irregularities termed Cushing response. This mechanism is generally considered to be an agonal and terminal event occurring in extreme condition of brainstem ischaemia leading to a sympatho-adrenal response.

You may treat chickenpox with acyclovir if it is commenced within the first 24 hours of the rash’s appearance. Erythromycin, doxycycline, and ampicillin would not help because it’s a viral infection (Varicella) not a bacterial infection.

Catatonia is a state of apparent unresponsiveness to external stimuli and apparent inability to move normally in a person who is apparently awake. Catatonia can be acute and occur in severely ill patients with underlying psychiatric or other medical disorders.

A history of behavioural responses to others usually includes the presence of the following:
– Mutism (absence of speech)
– Negativism (performing actions contrary to the commands of the examiner)
– Echopraxia (repeating the movements of others)
– Echolalia (repeating the words of others)
– Waxy flexibility (slight, even resistance to positioning by examiner)
– Withdrawal (absence of responses to the environment).

In the presence of a catatonic state, both first and second generation antipsychotics (SGA) may contribute to maintaining or worsening the catatonic state and increase the risk of developing NMS (neuroleptic malignant syndrome).

Electroconvulsive therapy (ECT) is effective in all forms of catatonia, even after pharmacotherapy with benzodiazepines has failed. Response rate ranges from 80% to 100% and results superior to those of any other therapy in psychiatry. ECT should be considered first-line treatment in patients with malignant catatonia, neuroleptic malignant syndrome, delirious mania or severe catatonic excitement, and in general in all catatonic patients that are refractory or partially responsive to benzodiazepines. Early intervention with ECT is encouraged to avoid undue deterioration of the patient’s medical condition.

Electroconvulsive therapy (ECT) is a procedure, done under general anaesthesia, in which small electric currents are passed through the brain, intentionally triggering a brief seizure. ECT seems to cause changes in brain chemistry that can quickly reverse symptoms of certain mental health conditions.

CMV is a common viral infection that can be transmitted from a pregnant woman to her unborn child, leading to congenital CMV infection. Congenital CMV infection can result in a range of symptoms and complications in newborns, including deafness. In fact, CMV is one of the leading causes of non-genetic sensorineural hearing loss in children.

Given the mother’s history of symptoms during pregnancy and the concern for deafness in the infant, CMV should also be considered as a potential cause.

Both fibrates and nicotinic acid have been associated with myositis, especially when combined with a statin. However, the Committee on Safety of Medicines has produced guidance which specifically warns about the concomitant prescription of fibrates with statins concerning muscle toxicity.

Bezafibrate: It is a fibric acid derivative (fibrate) that has been used as a class of agents known to decrease triglyceride levels while substantially increasing HDL-C levels.
Pharmacological effects:
– Increases VLDL catabolism by increasing lipoprotein and hepatic triglyceride lipase.
– Decreases triglyceride synthesis by inhibiting acetyl-CoA reductase.
– Decreases cholesterol synthesis by inhibiting HMG-CoA reductase.

Side effects:
– Hypersensitivity
– Primary biliary cirrhosis
– Pre-existing gallbladder disease
– Concurrent use with HMG-CoA inhibitors (statins) can produce myopathy
– Hepatic/renal impairment in a patient warrants dose adjustment as this drug is primarily excreted via the renal mechanism.

Contraindications: Concurrent use of MAO inhibitors, hypersensitivity, pre-existing cholestasis, and pregnancy.

Use: It can be used to treat Barth syndrome (characterized by dilated cardiomyopathy, neutropenia (presenting with recurrent infections), skeletal myopathy and short stature)

The patient has paroxysmal nocturnal haemoglobinuria (PNH) complicated by acute hepatic vein thrombosis (Budd–Chiari syndrome).

PNH is an acquired clonal disorder of haematopoietic stem cells, characterised by variable combination of intravascular haemolysis, thrombosis, and bone marrow failure. Diagnosis is made by flow cytometric evaluation of blood, which confirms the CD55 and CD59 deficiencies and deficiency of expression of other GPI-linked proteins. This test is replacing older complement-based assays such as the Ham test and sucrose lysis test.

The power of a test is defined as 1 − the probability of Type II error. The Type II error is concluding at no difference (the null is not rejected) when in fact there is a difference, and its probability is named β. Therefore, the power of a study reflects the probability of detecting a difference when this difference exists. It is also very important to medical research that studies are planned with an adequate power so that meaningful conclusions can be issued if no statistical difference has been shown between the treatments compared. More power means less risk for Type II errors and more chances to detect a difference when it exists.

Cefalexin should be avoided in this patient.
This patient is known to have a severe penicillin allergy. None of the above antibiotics are penicillin based. However, 0.5 – 6.5% of patients who are proven to have an IgE mediated penicillin allergy will also be allergic to cephalosporins, including cefalexin.

Penicillin, cephalosporins, and carbapenems are all members of the beta-lactam group of antibiotics and share a common beta-lactam ring. There is, therefore, a small risk of allergy cross-over between all these antibiotics. The rates of allergy cross-over are lower with second and third-generation cephalosporins than first-generation cephalosporins such as cefalexin.

It is important to question the patient carefully to ascertain what symptoms they had on exposure to penicillin. Symptoms such as an urticarial rash or itching make it more likely that they have an IgE mediated allergy.

One of the options of Psoriasis treatment is vitamin D analogues i.e. calcipotriol. Acne is exacerbated by steroids. Erythema nodosum can be caused by various diseases and the treatment of the primary condition resolves the symptoms. Lipomas require surgery, whereas Steven-Johnson syndrome requires use of steroids and eliminating the culprit drug, which is one of the most common causes.

The most probable diagnosis considering hypochloraemia and the mild metabolic alkalosis as well as the history of GERD (requiring a high dose of PPI to control) would be bulimia.

Other options:
Diuretic abuse tends to give a hypochloraemic acidosis.
Gitelman syndrome also fits the diagnosis but, it is very rare compared to bulimia.
Inhaled steroid use and stress would not be responsible for such marked electrolyte derangement.

Other potential signs of bulimia nervosa would be parotid gland swelling and dental enamel erosion induced by regular vomiting.

A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 a scaffolding protein is encoded by FBN1 on human chromosome 15q21 and fibrillin-2 is encoded by FBN2 on 5q23. Mutations in FBN1 produce Marfan syndrome, a pleiotropic autosomal dominant connective tissue disorder with prominent manifestations in the skeleton, eye and cardiovascular system. A number of conditions related to Marfan syndrome are also due to FBN1 mutations.

Given she is not showing signs of systemic illness, you do not need to treat for an acute flair (which would be steroids), but you need to put her on maintenance medication. Oral ASA would be the best option for this, it is first line. You cannot give rectal ASA because the location of her disease is in the ascending colon and the enema will not reach.

The most likely diagnosis is chronic tophaceous gout, which is classically associated with chronic renal impairment or long term diuretic therapy. There is tophus formation due to urate crystal deposition in and around the joint. These tophi can also form in the bones and soft tissues. Renal manifestations with uric acid include nephrolithiasis and uric acid nephropathy. Whenever there is an acute on chronic attack of gout, the inciting cause must be established and in case of diuretic use, they should be immediately replaced with another medication. Allopurinol is never started during an acute episode. it is first allowed to settle before administration of allopurinol. Although dietary restriction must be observed in people with a propensity of gout, this scenario clearly presents diuretics as the cause.

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.