Haemophilia B (also known as Christmas disease) is due to a deficiency in factor IX. Haemophilia A is due to a deficiency in factor VIII.

While the results of this before and after study can provide some preliminary insight into the effects of the dietary intervention, the results should be viewed with great caution as they may be considered merely anecdotal. The lack of a control group contributes to confounding the data. Therefore, while the difference may be statistically significant and the confidence interval is compatible with a fall in the number of seizures after therapy, the results cannot be introduced as the standard without a control group to compare with.

A 3-dimensional transoesophageal echocardiography (3D TEE) provides direct visualization of the entire PFO anatomy and surrounding structures. It allows more accurate diagnosis.

Heart murmurs are common in healthy infants, children, and adolescents. Although most are not pathologic, a murmur may be the sole manifestation of serious heart disease. Historical elements that suggest pathology include family history of sudden cardiac death or congenital heart disease, in utero exposure to certain medications or alcohol, maternal diabetes mellitus, history of rheumatic fever or Kawasaki disease, and certain genetic disorders. Physical examination should focus on vital signs; age-appropriate exercise capacity; respiratory or gastrointestinal manifestations of congestive heart failure; and a thorough cardiovascular examination, including features of the murmur, assessment of peripheral perfusion, and auscultation over the heart valves. Red flags that increase the likelihood of a pathologic murmur include a holosystolic or diastolic murmur, grade 3 or higher murmur, harsh quality, an abnormal S2, maximal murmur intensity at the upper left sternal border, a systolic click, or increased intensity when the patient stands. Electrocardiography and chest radiography rarely assist in the diagnosis.

Acute epiglottitis is a life-threatening disorder with serious implications to the anaesthesiologist because of the potential for laryngospasm and irrevocable loss of the airway. There is inflammatory oedema of the arytenoids, aryepiglottic folds and the epiglottis; therefore, supraglottitis may be used instead or preferred to the term acute epiglottitis.Acute epiglottitis can occur at any age. The responsible organism used to be Hemophilus influenzae type B (Hib), but infection with group A b-haemolytic Streptococci has become more frequent after the widespread use of Hemophilus influenzae vaccination. The typical presentation in epiglottitis includes acute occurrence of high fever, severe sore throat and difficulty in swallowing with the sitting up and leaning forward position in order to enhance airflow. There is usually drooling because of difficulty and pain on swallowing. Acute epiglottitis usually leads to generalized toxaemia. The most common differential diagnosis is croup and a foreign body in the airway. A late referral to an acute care setting with its serious consequences may result from difficulty in differentiation between acute epiglottitis and less urgent causes of a sore throat, shortness of breath and dysphagia.

Human breast milk composition changes with the progressive age of the infant. Breastmilk produced for a preterm baby often has a higher caloric content than breastmilk for a term baby. After the production of colostrum in the first days of life, the milk continues to mature. by week 4-6 milk can be considered fully mature. The average calories found in mature breastmilk are about 70kcal/100ml

Infantile spasm belongs to the spectrum of seizure disorders. Infantile spasm manifests itself with loss of consciousness and jerky movements. The peak age of onset is between 4 and 6 months. Approximately 90% of infantile spasms begin before 12 months of age. It is rare for infantile spasms to begin during the first 2 weeks of life or after 18 months.

Precocious puberty refers to the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal.Most patients, particularly girls suspected of having central precocious puberty, are otherwise healthy children whose pubertal maturation begins at the early end of the normal distribution curveIn a series of more than 200 patients evaluated at a single medical centre, central precocious puberty occurred 5 times more often in girls than boys.GnRH-dependent precocious puberty is treated with GnRH agonists or Luteinizing Hormone Releasing Hormone (LHRH). Follow up every 4-6 months to ensure that progression of puberty has been arrestedFavourable signs include normalization of accelerated growth, reduction (or at least no increase) in size of breasts, and suppression of gonadotropin levels after a challenge of GnRHThe ideal testing frequency has not been established. Monitor bone age yearly to confirm that the rapid advancement seen in the untreated state has slowed, typically to a half year of bone age per year or less

Urine culture confirms a diagnosis of a UTI. A kidney ultrasound will be the next best investigation because it will help us to visualise the bladder, kidneys, and ureters to rule out any congenital obstruction in the urinary tract that might be the actual cause of infection in this 2-month old girl.

Retinopathy screening need not be done on an annual basis for a 9-year-old child. Screening for diabetic retinopathy should begin at the age of 12.Diabetes mellitus is an increasing problem in both developing and developed countries alike. Some of the risk factors include:ObesityFamily historyFemale sex Asian and African racesPresence of acanthosis nigricans is seen with type 2 but not type 1 diabetesThe diagnosis is mostly incidental or subacute.The treatment aims are good blood sugar control, maintenance of normal BMI, and reduction of complications. The treatment modality also includes lifestyle modifications and cessation of smoking. Even after all this, diabetic ketoacidosis can still occur.Management of diabetes mellitus – NICE guidelines (Updated, 2015): – Standard release metformin should be offered from the moment of diagnosis.- HBA1c should be measured every three months. The target HBA1c level of 48 mmol/mol (6.5%) or lower is ideal for minimising the risk of long term complications.- Children should undergo an eye examination by an optician every two years.- Annual immunisation against influenza and pneumococcal infections are essential.- There is an increased risk of psychological and psychosocial difficulties if the child with type 1 diabetes is on insulin or oral hypoglycaemic medications. These include anxiety disorder, depression, behavioural and conduct disorders and family conflict.- Annual monitoring to be done for:Hypertension starting at diagnosis.Dyslipidaemia starting at diagnosis.Screening for microalbuminuria starting at diagnosis.Diabetic retinopathy from 12 years of age.