47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male’s cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Affected boys can have delayed development of motor skills or hypotonia.Other signs and symptoms of this condition include hand tremors or other involuntary movements (motor tics), seizures, and asthma. Males with 47,XYY syndrome have an increased risk of behavioural, social, and emotional difficulties compared with their unaffected peers. These problems include attention-deficit/hyperactivity disorder (ADHD)| depression| anxiety| and autism spectrum disorder.Physical features related to 47,XYY syndrome can include increased belly fat, macrocephaly, macrodontia, flat feet (pes planus), fifth fingers that curve inward (clinodactyly), widely spaced eyes (ocular hypertelorism), and scoliosis. These characteristics vary widely among affected boys and men.

Cot death also know as SIDS or Sudden Infant Death syndrome. Putting a baby to sleep on his back has been shown to reduce the risk of SIDS.

The differentials of the child’s condition are likely to include an Iron deficiency anaemia, or a hemoglobinopathy such as sickle cell disease or thalassemia based on the presentation of pallor, growth failure and easy fatiguability. While the full blood count and film present a hypochromic microcytic anaemia with reticulocytosis, the normal serum ferritin levels rule out iron deficiency anaemia. Thalassemia is to be suspected over sickle cell disease as the patient comes from the Mediterranean region known for a high incidence of thalassemia. Sickle cell anaemia also tends to present with normocytic normochromic red blood cells, with many sickled cells. Vitamin B12 deficiency and Aplastic anaemia are ruled out as they present with a macrocytic anaemia, and a decrease in white blood cells, platelets and red blood cells respectively.

Torsade de pointes is an uncommon and distinctive form of polymorphic ventricular tachycardia (VT) characterized by a gradual change in the amplitude and twisting of the QRS complexes around the isoelectric line.Conditions associated with torsade include the following:Electrolyte abnormalities – Hypokalaemia, hypomagnesemia, hypocalcaemiaEndocrine disorders – Hypothyroidism, hyperparathyroidism, pheochromocytoma, hyperaldosteronism, hypoglycaemiaCardiac conditions – Myocardial ischemia, myocardial infarction, myocarditis, bradyarrhythmia, complete atrioventricular (AV) block, takotsubo cardiomyopathyIntracranial disorders – Subarachnoid haemorrhage, thalamic hematoma, cerebrovascular accident, encephalitis, head injuryNutritional disorders – Anorexia nervosa, starvation, liquid protein diets, gastroplasty and ileojejunal bypass, celiac diseaseRisk factors for torsade include the following:Congenital long QT syndromeFemale genderAcquired long QT syndrome (causes of which include medications and electrolyte disorders such as hypokalaemia and hypomagnesemia)BradycardiaBaseline electrocardiographic abnormalitiesRenal or liver failure

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.Congenital Hypertrophic Pyloric Stenosis (CHPS):Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive. Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound. Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.The definitive surgical management is the Ramsteadt’s pyloromyotomy.

Erythema nodosum (EN) is an acute, nodular, erythematous eruption that usually is limited to the extensor aspects of the lower legs. It is a delayed hypersensitivity reaction to a variety of antigens| circulating immune complexes have not been found in idiopathic or uncomplicated cases but may be demonstrated in patients with inflammatory bowel disease.Currently, the most common cause of erythema nodosum is a streptococcal infection in children and streptococcal infection and sarcoidosis in adultsIn most patients, erythema nodosum is a self-limited disease and requires only symptomatic relief using nonsteroidal anti-inflammatory drugs (NSAIDs), cool wet compresses, elevation, and bed rest.

The most probable cause for the patient’s symptoms would be pes anserine bursitis.Translated, pes anserinus means goose feet. It is the term used to describe the unified bursa enclosing the tendons of the sartorius, gracilis and semitendinous muscles inserting into the anteromedial proximal tibia.Pes anserine bursitis is common in people doing sports due to overuse injuries. The main sign is of pain in the medial part of the proximal tibia. As the McMurray test is negative, medial meniscal injury is excluded.

The most probable diagnosis in this patient would be hyphaema.The acuity has varied because the blood has been settling in the anterior chamber of the eye, thus allowing a reasonable level of visual acuity. The size of the tennis ball (which is not as harmful as a squash ball in the eye) and the fact that it was struck from a distance would cause a moderately significant injury due to pressure to the globe. Other options:- The absence of severe pain makes a large corneal abrasion less likely. – Vitreous haemorrhage would lead to very poor acuity, more likely ‘hand movements only’. – A retinal detachment or traumatic cataract would not produce such immediate symptoms, and if they did occur it would probably be in the presence of more extensive eye trauma and pain, with additional signs of both hyphaema and vitreous haemorrhage.

Based on the clinical scenario provided, the most probable nerve injured in this patient would be the trochlear nerve. The trochlear nerve has a relatively long intracranial course, and this makes it vulnerable to injury in head trauma. Head trauma is the most frequent cause of acute fourth nerve palsy. A 4th nerve palsy is the most common cause of vertical diplopia. The diplopia is at its worst when the eye looks medially which it usually does as part of the accommodation reflex when walking downstairs.

Combined oral contraceptive pills have an anti ovulatory function and also reduce the pain of menstruation.

Hyposplenism is associated with thrombocytosis. Other features of hyposplenism are: – Howell-Jolly bodies and acanthocytosis, occurring secondary to haemolysis.- Pappenheimer bodies: These are granular deposits of iron found within the RBCs.- Lymphocytosis and monocytosis.Causes for hyposplenism include:- Congenital asplenia- Iatrogenic splenectomy: Following trauma or treatment for ITP, thalassemia or spherocytosis).- Autosplenectomy: Secondary to sickle cell anaemia, coeliac disease, dermatitis herpetiformis, essential thrombocythemia or splenic arterial thrombosis).

Based on the presented clinical scenario, the most probable diagnosis for the patient would be testicular torsion.Rationale:The gubernaculum is the structure responsible for aiding the descent of the testicles from the abdomen into the scrotum. The processus vaginalis precedes the descent of the testes and then undergoes closure. Abnormalities such as the persistence of a patent processus vaginalis, known as bell clapper deformity, predispose to testicular torsion.Other options:- Varicocele: Nutcracker syndrome occurs where the left renal vein becomes compressed in between the superior mesenteric artery and the aorta. Since the left gonadal vein drains into the left renal vein, this results in a varicocele. – Epididymitis and mumps orchitis are differentials for acute testicular pain but are not due to a defect in the processus vaginalis. – An incarcerated inguinal hernia presents mainly with signs of bowel obstruction which are not mentioned in the clinical scenario.The descent of testes:- Until the end of foetal life, the testicles are located within the abdominal cavity. – They are initially located on the posterior abdominal wall on a level with the upper lumbar vertebrae (L2). – Attached to the inferior aspect of the testis is the gubernaculum testis which extends caudally to the inguinal region, through the canal and down to the superficial skin. – It is interesting to note that both the testis and the gubernaculum are extra-peritoneal.- As the foetus grows, the gubernaculum becomes progressively shorter. It carries the peritoneum of the anterior abdominal wall (the processus vaginalis). As the processus vaginalis descends the testis is guided by the gubernaculum down the posterior abdominal wall and the back of the processus vaginalis into the scrotum.- By the third month of foetal life the testes are located in the iliac fossae, by the seventh they lie at the level of the deep inguinal ring.Usually, the processus vaginalis closes after birth but may persist predisposing to indirect hernias. On the other hand, a partial closure may result in the development of cysts on the cord.

Wolff-Parkinson-White (WPW) syndrome is a pre-excitation syndrome characterised by re-entry tachycardia that most commonly presents as a recurrent supraventricular tachycardia. ECG will show a short PR interval and a prolonged QRS complex.

The Kaplan–Meier estimator, also known as the product limit estimator, is a non-parametric statistic used to estimate the survival function from lifetime data. In medical research, it is often used to measure the fraction of patients living for a certain amount of time after treatment.

In the first trimester of pregnancy, amniotic fluid is produced from maternal plasma where there is a rapid bi-directional diffusion across the foetal skin. At 10 weeks the volume is about 25ml. By 16th weeks of gestation the foetal kidneys make urine that contributes to the increasing volume of amniotic fluid, along with nasal secretions. At 20 weeks, the level is 400ml and increases to 800ml at 28weeks, after which it reduces to 600ml at term.

When topical agents are insufficient or not tolerated, or in cases of moderate to severe acne, especially when the chest, back and shoulders are involved, systemic antibiotics are often considered the next line of treatmentSystemic antibiotics should not be used to treat mild acne because of the risk of increasing resistance. The additional use of nonantibiotic topical agents in combination with oral antibiotics should be considered. Topical retinoids with oral antibiotics may give a faster response and be more effective than either drug used alone.Treatment with tetracyclines and erythromycin reduces P. acnes within the follicles, thereby inhibiting the production of bacterial-induced inflammatory cytokines. These agents also have inherent anti-inflammatory effects, such as suppressing leukocyte chemotaxis and bacterial lipase activity.

According per the national guidelines, 5 inflation breaths should be given with a gas pressure of 30cmH2O for term babies. Each breath should be given for 2-3 seconds. Pre-term babies should be aerated with a lower pressure of 20-25cmH2O.

Case control studies are observational studies which retrospectively determine whether a patient might have been exposed to a risk factor for a certain disease, as compared to a control group from the general population. They can be used for a range of outcomes as well as rare diseases. One of the biggest problems with this type of study is recall bias. Research subjects may selectively remember factors that are more predictive of the disease outcome when compared to the control group. All studies should have prior power calculations before the study commences.

Haematuria and abdominal swelling may indicate either polycystic kidney disease or a tumour. Because of the patient’s age, the likelihood of a tumorous growth is small, thus an ultrasound is the best choice for this case.

Cardiac notch: is an indentation on the left lung of the heart.
Coronary sinus: a venous sinus on the surface of the heart (the posterior aspect) that receives blood from the smaller veins that drain the heart.
Coronary sulcus: a groove on the heart between the atria and ventricles.
Transverse pericardial sinus: located behind the aorta and pulmonary trunk and anterior to the superior vena cava.
Oblique pericardial sinus: located behind the left atrium. Accessed from the inferior side (or the apex) of the heart upwards.
Horizontal pericardial sinus: this is a made-up term.

Internal abdominal bleeding is most probably the cause of the child’s shock, especially unresponsive to fluid boluses.

Gastroesophageal reflux occurs in almost all infants, manifesting as wet burps after feeding. The spit-ups appear effortless and not particularly forceful.Infants in whom reflux has caused GERD have additional symptoms, such as irritability, feeding refusal, and/or respiratory symptoms such as chronic recurrent coughing or wheezing and sometimes stridor. Much less commonly, infants have intermittent apnoea or episodes of arching the back and turning the head to one side (Sandifer syndrome). Infants may fail to gain weight appropriately or, less often, lose weight.Incidence of gastroesophageal reflux increases between 2 months and 6 months of age (likely due to an increased volume of liquid at each feeding) and then starts to decrease after 7 months. Gastroesophageal reflux resolves in about 85% of infants by 12 months and in 95% by 18 months.

The clinical presentation of lichen planus has several variations, as follows:- Hypertrophic lichen planus- Atrophic lichen planus- Erosive/ulcerative lichen planus- Follicular lichen planus (lichen planopilaris)- Annular lichen planus- Linear lichen planus- Vesicular and bullous lichen planus- Actinic lichen planus- Lichen planus pigmentosus- Lichen planus pemphigoides

Key Observations:

1. Cyanosis and Low Oxygen Saturation:
   • Central cyanosis indicates mixing of oxygenated and deoxygenated blood.
   • The aortic oxygen saturation is low (76%), indicating a significant amount of deoxygenated blood entering systemic circulation.
2. Pressure Analysis:
   • The right ventricle pressure is significantly elevated (110/6 mmHg), suggesting an obstructive lesion like pulmonary stenosis or an increased volume load due to a shunt.
   • The pulmonary artery pressure is low (20/5 mmHg) despite the high right ventricular pressure, suggesting an obstruction to flow from the right ventricle to the pulmonary artery, consistent with pulmonary stenosis.
3. Oxygen Saturation Analysis:
   • There is a notable drop in oxygen saturation from the left ventricle (87%) to the aorta (76%), indicating a mixture of oxygenated and deoxygenated blood in the systemic circulation, suggestive of a right-to-left shunt.

Differential Diagnosis:

1. Pulmonary Stenosis:
   • Supported by elevated right ventricular pressure and low pulmonary artery pressure.
2. Ventricular Septal Defect (VSD):
   • Would typically cause left-to-right shunting, leading to increased pulmonary blood flow and higher oxygen saturation in the right ventricle and pulmonary artery, which is not observed here.
3. Over-riding Aorta:
   • Seen in conditions like Tetralogy of Fallot where the aorta receives blood from both the right and left ventricles, leading to mixed oxygen saturation.
4. Right-to-Left Shunt:
   • The data indicates a right-to-left shunt, with low oxygen saturation in the aorta, suggesting that deoxygenated blood is bypassing the lungs and entering systemic circulation.
5. Aortic Stenosis:
   • Typically presents with high left ventricular pressure and a pressure gradient between the left ventricle and the aorta, which is not observed here.

Conclusion:

Given the data, the most likely abnormalities present in this patient are Pulmonary Stenosis, Right-to-Left Shunt, and Over-riding Aorta. These findings are consistent with a condition like Tetralogy of Fallot, where all these features are present.

Miliaria is a common skin disease caused by blockage and/or inflammation of eccrine sweat ducts. Miliaria is frequently seen in hot, humid or tropical climates, in patients in the hospital, and in the neonatal period. Miliaria is also known as sweat rash.Based on the level of the sweat duct obstruction, miliaria is divided into three subtypes:- Miliaria crystallina (sudamina), caused by obstruction of the sweat ducts close to the surface of the skin (epidermis)|- Miliaria rubra, caused by obstruction of the sweat ducts deeper in the epidermis|- Miliaria profunda (tropical anhidrosis), the result of sweat leaking into the middle layer of skin (dermis).Miliaria crystallina appears as 1–2 mm superficial clear blisters that easily break. The blisters can look like beads of sweat. There is no inflammation. The blisters are usually seen widely spread on the head, neck, and upper trunk.Miliaria rubra is the most common type of miliaria results in red, 2–4 mm, non-follicular papules and papulovesicles. They are very itchy. Background erythema is often present. In children, miliaria affects the skin folds of the neck, axilla or groin. In adults, miliaria often affects the upper trunk, scalp, neck and flexures, particularly areas of friction with clothing. Miliaria pustulosa is a variant of milia rubra in which there are pustules.Miliaria profunda describes asymptomatic deep papules. The flesh–coloured, 1–3 mm diameter papules usually arise on the trunk and extremities.Mild Topical steroids can be used as a treatment

There are two lateral rotators of the arm, the infraspinatus and the teres minor muscles. The infraspinatus muscle receives nerve supply from C5 and C6 via the suprascapular nerve, whilst the teres minor is supplied by C5 via the axillary nerve.

The thyroid gland is one of the first endocrine glands to develop, and is formed from the endoderm of the epithelial tissue of the primitive pharynx. The mature gland is functionally made up of follicles with colloid which contain the pro hormone thyroglobulin. Thyroid hormone is synthesised at a cellular level and is stored as thyroglobulin, before its release as thyroid hormone, a major modulator of metabolism. In between the follicular cells are parafollicular, or C-cells which secrete parathyroid hormone or calcitonin which are responsible for calcium regulation in the body.

To prevent mother to child transmission in the case of an HIV infected mother, guidelines have been put in place in the that guide practices. During pregnancy the risk of intrauterine transmission is quite low, as is the risk of transmission during vaginal delivery. As a result the number of women that choose to have caesarean sections have fallen, with vaginal births increasing by 40%. One factor that can however increase the risk of mother to child HIV transmission is concurrent Hepatitis C infection which double the risk of vertical transmission.

Red blood cells (RBC) have a life span of 120 days in humans.Aging of RBC includes changes in many properties: decreased metabolic activity, morphological alterations, including decreased cell volume and changes in cell shape, and quantitative and qualitative modulations of the surface.

EPICure is a series of studies of survival and later health among babies and young people who were born at extremely low gestations – from 22 to 26 weeks.Boost II is a double-blind randomised controlled trial (RCT) comparing the effects of targeting arterial oxygen saturations between 85% and 89% versus 91% and 95% in preterm infants.OSCAR Xe is not the name of a study. Baby-OSCAR is an RCT to determine whether a confirmed large patent ductus arteriosus in very premature babies should be treated with ibuprofen within 72 hours of birth.SafeBoosC is a trial to examine if it is possible to stabilise the cerebral oxygenation of extremely preterm infants in the first 72 hours of life with the use of NIRS oximetry and a clinical treatment guideline. TOBY Xe is an RCT looking at the neuroprotective effects of hypothermia combined with inhaled xenon following perinatal asphyxia.