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Anion-gap metabolic acidosis

High anion gap metabolic acidosis is a form of metabolic acidosis characterized by a high anion gap (a medical value based on the concentrations of ions in a patient’s serum). An anion gap is usually considered to be high if it is over 11 mEq/L. G — glycols (ethylene glycol & propylene glycol) O — […]

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A-a Gradient – Alveolar-arterial PO2 difference

A-a Gradient or Alveolar-arterial PO2 difference – measure of the difference between the alveolar concentration (A) of oxygen and the arterial (a) concentration of oxygen. The A-a Gradient can help determine the cause of hypoxia. Assesment of oxygenation valid only on room air increase with age Causes of increased (A-a) difference: COPD Atelectasis Pneumonia Pulmonary edema […]

Klinefelter syndrome
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Klinefelter syndrome

Klinefelter syndrome also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. Apart from 47,XXY there also 48,XXXY and 49,XXXXY types exist. This is called as variants of Klinefelter syndrome. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of […]

Fragile X syndrome
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Fragile X syndrome

Fragile X syndrome an X-linked disorder caused by expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome. X-linked dominant – males are more severely affected by this disorder than females. It is the most common inherited form of mental retardation and second only to Down’s […]

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Turner Syndrome (gonadal dysgenesis)

Turner syndrome (gonadal dysgenesis – 45,X) is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms Short stature Lymphedema of the hands and feet of a newborn Broad chest and widely spaced nipples Protruding ears (low set ears) Low Posterior hairline Reproductive sterility Rudimentary ovaries gonadal streak (underdeveloped […]

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Vesicoureteral reflux

Vesicoureteral reflux (VUR) – Abnormal backflow of urine from the bladder into the ureters/kidneys. Bacteria in the lower urinary tract can easily be spread by reflux to the upper tract, leading to recurrent infection with potential scarring and renal dysfunction. Grading Grade I – reflux into non-dilated ureter (results in urine reflux into the ureter only) […]