The presentation of the patient and the characteristic ring-like (Bull’s eye) rash are highly suggestive of a diagnosis of Lyme disease caused by Borrelia burgdorferi. The spirochete is transmitted by Ixodid ticks. The initial presentation of this infection includes an erythema migrans rash that starts from the site of tick bite and gradually expands. Other features supporting the diagnosis are the history of camping, fever, joint pain, and the neurological symptoms presenting as facial nerve palsy.

Neurogenic shock is a devastating consequence of spinal cord injury (SCI), also known as vasogenic shock. Injury to the spinal cord results in sudden loss of sympathetic tone, which leads to the autonomic instability that is manifested in hypotension, bradyarrhythmia, and temperature dysregulation. Spinal cord injury is not to be confused with spinal shock, which is a reversible reduction in sensory and motor function following spinal cord injury. Neurogenic shock is associated with cervical and high thoracic spine injury. Early identification and aggressive management are vital in neurogenic shock to prevent secondary spinal injury.

Damage to the left parietal lobe can result in what is called Gerstmann’s Syndrome. It includes right-left confusion, difficulty with writing (agraphia) and difficulty with mathematics (acalculia). It can also produce disorders of language (aphasia) and the inability to perceive objects normally (agnosia).Damage to the right parietal lobe can result in neglecting part of the body or space (contralateral neglect), which can impair many self-care skills such as dressing and washing. Right side damage can also cause difficulty in making things (constructional apraxia), denial of deficits (anosognosia) and drawing ability.Bi-lateral damage (large lesions to both sides) can cause Balint’s Syndrome, a visual attention and motor syndrome. This is characterized by the inability to voluntarily control the gaze (ocular apraxia), inability to integrate components of a visual scene (simultanagnosia), and the inability to accurately reach for an object with visual guidance (optic ataxia)Special deficits (primarily to memory and personality) can occur if there is damage to the area between the parietal and temporal lobes.Left parietal-temporal lesions can affect verbal memory and the ability to recall strings of digits. The right parietal-temporal lobe is concerned with non-verbal memory.Right parietal-temporal lesions can produce significant changes in personality.

This child has pseudo hypoparathyroidism. It is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphatemia, and increased serum concentration of PTH.Patients with pseudo hypoparathyroidism type 1a present with a characteristic phenotype collectively called Albright hereditary osteodystrophy (AHO). The constellation of findings includes the following:Short statureStocky habitusObesityDevelopmental delayRound faceDental hypoplasiaBrachymetacarpalsBrachymetatarsalsSoft tissue calcification/ossificationThe goals of therapy are to maintain serum total and ionized calcium levels within the reference range to avoid hypercalcaemia and to suppress PTH levels to normal. This is important because elevated PTH levels in patients with PHP can cause increased bone remodelling and lead to hyper-parathyroid bone disease.The goals of pharmacotherapy are to correct calcium deficiency, to prevent complications, and to reduce morbidity. Intravenous calcium is the initial treatment for all patients with severe symptomatic hypocalcaemia. Administration of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, remains the mainstay of treatment and should be initiated in every patient with a diagnosis of pseudo hypoparathyroidism.

Relative risk is the probability of an outcome occurring in an exposed group as compared to the probability of that outcome in an unexposed group. In the scenario given, 50% of the children exposed developed the disease while only 10% of the children who were unexposed developed the disease. The relative risk was therefore 50/10=5. There is no further information about whether the study was controlled, the confidence interval, or the type of study. It therefore cannot be confirmed whether the chemical is causative and if it should be avoided.

Based on the presentation, the developmental age of the child is 8 months.The primitive reflexes are indicators of functional integrity and maturity. The majority of reflexes do not persist beyond 6 months of age. There are 13 reflexes of importance, including:- Moro reflex- Startle reflex- Rooting reflex- Sucking reflex- Grasp reflex- Voluntary palmar grasp reflex- Voluntary reach reflex- Stepping reflex- Asymmetrical tonic neck reflex (ATNR)- Parachute reflex- Plantar reflex- Tendon reflex- ClonusIt is interesting to note that gastrocolic reflex is not a primitive reflex.Ninety-five per cent of reflexes will have disappeared by the ages shown below:- 6 weeks: Stepping- 3-4 months: Palmar grasp and Moro- 6 months: Sucking, rooting, and asymmetrical tonic neck reflex (ATNR)

The property described in the question is heterogeneity.Heterogeneity is when a single phenotype or genetic disorder can be caused by multiple numbers of genetic mutations.Other options:- Pleiotropy occurs when a single gene influences multiple phenotypic traits. The underlying mechanism is that the gene codes for a product that is used by various cells. A classic example of pleiotropy is the human disease PKU (phenylketonuria).- The penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms. For example, the gene responsible for a particular autosomal dominant disorder has 70% penetrance, then 70% of those with the mutation will develop the disease, while 30% will not.

Answer: Curling’s ulcersCurling’s ulcer is an acute gastric erosion resulting as a complication from severe burns when reduced plasma volume leads to ischemia and cell necrosis (sloughing) of the gastric mucosa. The most common mode of presentation of stress ulcer is the onset of acute upper GI bleed like hematemesis or melena in a patient with the acute critical illness. A similar condition involving elevated intracranial pressure is known as Cushing’s ulcer. Cushing’s ulcer is a gastro-duodenal ulcer produced by elevated intracranial pressure caused by an intracranial tumour, head injury or other space-occupying lesions. The ulcer, usually single and deep, may involve the oesophagus, stomach, and duodenum. Increased intracranial pressure may affect different areas of the hypothalamic nuclei or brainstem leading to overstimulation of the vagus nerve or paralysis of the sympathetic system. Both of these circumstances increase secretion of gastric acid and the likelihood of ulceration of gastro-duodenal mucosa.Mallory-Weiss syndrome is characterized by upper gastrointestinal bleeding secondary to longitudinal mucosal lacerations (known as Mallory-Weiss tears) at the gastroesophageal junction or gastric cardia. However, Mallory-Weiss syndrome may occur after any event that provokes a sudden rise in the intragastric pressure or gastric prolapse into the oesophagus, including antecedent transoesophageal echocardiography. Precipitating factors include retching, vomiting, straining, hiccupping, coughing, primal scream therapy, blunt abdominal trauma, and cardiopulmonary resuscitation. In a few cases, no apparent precipitating factor can be identified. One study reported that 25% of patients had no identifiable risk factors.

The murmur of tricuspid valve regurgitation is typically a high-pitched, blowing, holosystolic, plateau, nonradiating murmur best heard at the lower left sternal border. The intensity is variable, but tends to increase during inspiration (Carvallo’s sign), with passive leg raising, after a post-extrasystole pause, and following amyl nitrite inhalation. The intensity of the murmur tends to correlate positively with the severity of regurgitation. Right ventricular enlargement may displace the location of the murmur leftward. Right ventricular failure may abolish respiratory variation. When tricuspid regurgitation is caused by pulmonary hypertension, a pulmonic ejection click may be audible. Severe tricuspid regurgitation is commonly accompanied by a third heart sound emanating from the right ventricle and best heard at the lower left sternal border. Severe tricuspid regurgitation typically produces an accentuated jugular cv wave and may produce hepatic congestion with a pulsatile liver.The auscultatory findings associated with ventricular septal defect are variable, depending on a variety of morphologic and hemodynamic considerations. The systolic murmur associated with a Roger’s-type ventricular septal defect (regurgitant jet flows directly into the right ventricular outflow tract) in patients with low pulmonary vascular resistance is a low to medium pitched, holosystolic murmur with midsystolic accentuation. The intensity of the murmur is typically grade 3 or higher.Patent ductus arteriosus produces a continuous murmur in patients with normal pulmonary vascular resistance.

The baby may have hydrocephalus and no surgery can be done until it is excluded.Cranial sonography is an important part of neonatal care in general, and high-risk and unstable premature infants, in particular. It allows rapid evaluation of infants in the intensive care units without the need for sedation and with virtually no risk. Expectedly, sonography represents an ideal imaging modality in neonates due to its portability, lower cost, speed, and lack of ionizing radiations. Although there are numerous indications for cranial sonography, it appears to be most useful for detection and follow-up of intracranial haemorrhage, hydrocephalus, and periventricular leukomalacia (PVL).

Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of Congenital Adrenal Hyperplasia, accounting for more than 90% of cases.Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia)Diagnosis of 21-hydroxylase deficiency: High serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease| 24-hour urinary 17-ketosteroid levels are elevated

At 7 months, children are expected to sit briefly leaning forward on their hands, reach and grasp objects, transfer objects from hand to hand, and babble. Children are usually expected to wave goodbye or grasp objects with their fingers or thumb at around 10 months and older.

Endometriosis is defined as the presence of normal endometrial mucosa (glands and stroma) abnormally implanted in locations other than the uterine cavityAbout one third of women with endometriosis remain asymptomatic. When they do occur, symptoms, such as the following, typically reflect the area of involvement:- Dysmenorrhea- Heavy or irregular bleeding- Pelvic pain- Lower abdominal or back pain – Dyspareunia- Dyschezia (pain on defecation) – Often with cycles of diarrhoea and constipation- Bloating, nausea, and vomiting- Inguinal pain- Pain on micturition and/or urinary frequency- Pain during exercise- Patients with endometriosis do not frequently have any physical examination findings beyond tenderness related to the site of involvement. – The most common finding is nonspecific pelvic tenderness.

Bulimia nervosa is a condition in which a person is involved in binge eating and then purging. This patient has swollen parotid glands. The glands swell in order to increase saliva production so that the saliva lost in the vomiting is compensated. This patient also has thickened calluses on the back of her hand. This is known as Russell’s sign. This occurs because of putting fingers in the mouth again and again to induce the gag reflex and vomit. The knuckles get inflamed in the process after coming in contact with the teeth multiple times.

Unless given IV, a drug must cross several semipermeable cell membranes before it reaches the systemic circulation. Drugs may cross cell membranes by diffusion, amongst other mechanisms. The rate of diffusion of a substance is proportional to the difference in the concentration of the diffusing substance between the two sides of the membrane, the temperature of the solution, the permeability of the membrane and, in the case of ions, the electrical potential difference between the two sides of the membrane.

The patient’s symptoms are most likely due to phenytoin intake.Note:Hypertrichosis occurs in 5–12% of patients on phenytoin and is most prominent on the extremities. Other options:- Hypertrichosis is the excess hair growth, whereas hirsutism is the development of male-pattern-dependent hair growth, as seen in polycystic ovarian syndrome. – A Becker’s naevus is associated with localised hypertrichosis in the naevus. – Cyclosporine intake can typically lead to diffuse hair growth that begins within 2–4 weeks of starting the drug. – Hereditary gingival fibromatosis is associated with variable hypertrichosis occurring on the eyebrows, face, limbs and mid-back.

The patient has hyperprolactinaemia with otherwise normal oestradiol, FSH and LH. This is highly suggestive of Prolactinoma rather than a non functioning tumour.In polycystic ovaries, there is increase in the level of LH while FSH is normal or low.

The clinical scenario provided is highly suggestive of third-degree burns (or full-thickness burns) that may have invaded the deeper levels up to dermis, evident from the insensate nature of the lesion.Degrees of Burns:- First degree burns are superficial second-degree burns.- Second-degree burns are just deeper than that of first-degree burns but vary enormously in other properties.- Third-degree burns are full-thickness burns which are leathery in consistency, and insensate. These burns do not heal on their own. The sensory neurons present in the skin at the deeper levels are destroyed completely and hence provide a paradoxical lack of pain.- Fourth-degree burns involving the subcutaneous tissues, tendons, and bones are very difficult to manage.Assessment of the extent of the burns for the treatment employs specialized charts, such as Lund and Browder charts and Wallace rule of nines.The Lund and Browder chart is, however, considered the most accurate.Wallace’s Rule of Nines can be used for children >16 years: – Head + neck = 9%- Each arm = 9%- Each anterior part of leg = 9%- Each posterior part of leg = 9%- Anterior chest = 9%- Posterior chest = 9%- Anterior abdomen = 9%- Posterior abdomen = 9%

The aetiology of macrocephaly is diverse.The most common cause is benign familial macrocephaly characterized by enlargement of the subarachnoid spaces and accounts for almost 50% of cases.Other causes are:- Enlargement of skull bones – Hyperostosis cranii – associated with disorders such as osteogenesis imperfecta, achondroplasia, and osteopetrosis- Secondary enlargement due to bone marrow expansion – as seen in thalassemia major- Increase in volume of cerebrospinal fluid- Hydrocephalus, Choroid plexus papilloma, Benign familial macrocephaly- Megalencephaly – Leukodystrophies – Canavan disease, Alexander disease, megalencephalic leukoencephalopathy with subcortical cysts- Lysosomal storage disorders – Tay-Sachs, mucopolysaccharidosis, gangliosidosis- Neurocutaneous disorders – Tuberous sclerosis, Sturge-weber syndrome, neurofibromatosis, Gorlin syndrome- Autism spectrum disorder- Other syndromes – Fragile X syndrome, Cowden syndrome, Sotos syndrome- Increased intracranial pressure (ICP)- CNS infections, Pseudotumor cerebriSubdural collections including hygromas- Mass lesions and an increase in the volume of bloodTumourIntraventricular haemorrhage, subdural hematoma, arteriovenous malformation

Prednisone is used for the treatment of myasthenia gravis if there is no initial response to the anticholinesterase medications. Pyridostigmine can make the symptoms of myasthenia gravis worse if used  in the initial stages of treatment. 

90% of patients with meconium ileus have cystic fibrosis (CF). Indeed, in 10 – 15% of cases of CF, the patient presents with meconium ileus.

The commonest time for bacterial meningitis is in the 1st month of life and group B Streptococcus is the commonest organism. The anterior fontanelle is full, but does not bulge with normal flexion. Neurological manifestations include seizures, irritability, poor tone, lethargy and tremors, however no findings of sensorineural deafness have been noted. One of the risk factors for introduction of meningeal infection is Meningomyelocele.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

An odds ratio (OR) is a measure of association between an exposure and an outcome. The OR represents the odds that an outcome will occur given a particular exposure, compared to the odds of the outcome occurring in the absence of that exposure. Odds ratios are most commonly used in case-control studies, however they can also be used in cross-sectional and cohort study designs as well (with some modifications and/or assumptions). Wherea = Number of exposed casesb = Number of exposed non-casesc = Number of unexposed casesd = Number of unexposed non-casesOR=(a/c) / (b/d) = ad/bc

The diagnosis of scabies can often be made clinically in patients with a pruritic rash and characteristic linear burrows. Definitive testing relies on the identification of mites or their eggs, eggshell fragments, or scybala. This is best undertaken by placing a drop of mineral oil directly over the burrow on the skin and then superficially scraping longitudinally and laterally across the skin with a scalpel blade. (Avoid causing bleeding.) Scraping 15 or more burrows often produces only 1 or 2 eggs or mites, except in a case of crusted scabies, in which many mites will be present. The sample is placed on a microscope slide and examined under low and high power. Potassium hydroxide should not be used, since it can dissolve mite pellets. Failure to find mites is common and does not rule out the diagnosis of scabies.

A 10 year old child, with a history of URTI and haematuria, presents a picture consistent with a diagnosis of IgA nephropathy. This condition can present with proteinuria and generalized swelling. However, an important differentiating point from rapidly progressive GN is the duration. IgA nephropathy is usually <10 days (commonly 4-5 day history of infection).

Insertion sites and sensor sites should be rotated each time the infusion set or glucose sensor is changed. This keeps the tissue healthy and allows previous sites to completely heal before reusing them. Change infusion set every 2 to 3 days to help prevent infection.

The right testicular vein is a tributary of the inferior vena cava, while the left testicular vein drains into the left renal vein.Note:The testicular venous drainage begins in the septa and these veins together with those of the tunica vasculosa converge on the posterior border of the testis as the pampiniform plexus. The pampiniform plexus, in turn, drains to the testicular vein.

Tanner stage two presents with the following: Downy hair, Breast bud palpable under areola (1st pubertal sign in females).Stage 1 (prepubertal) – elevation of papilla only – no pubic hairStage 2 – breast bud forms – sparse, slightly pigmented hair on labia majoraStage 3 – Breast begins to become elevated, extends beyond areola borders – hair becomes more coarse and curlyStage 4 – increased size and elevation. Areola and papilla form secondary mound – adult like, but sparing medial thighsStage 5 – final size, areola returns but papilla remains projected – hair extends to medial thighs

Syphilis is an infectious venereal disease caused by the spirochete Treponema pallidum. Syphilis is transmissible by sexual contact with infectious lesions, from mother to foetus in utero, via blood product transfusion, and occasionally through breaks in the skin that come into contact with infectious lesions. If untreated, it progresses through 4 stages: primary, secondary, latent, and tertiary.