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Neonatal encephalopathy (NE), previously known as neonatal hypoxic-ischemic encephalopathy (neonatal HIE or NHIE), is defined as a encephalopathy syndrome with signs and symptoms of abnormal neurological function, in the first few days of life in an infant born after 35 weeks of gestation. [1][2] In this condition there is difficulty initiating ...
Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia), [2] increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic.
A total serum calcium of less than 8 mg/dL (2mmol/L) or ionized calcium less than 1.2 mmol/L in term neonates is defined as hypocalcemia. In preterm infants, it is defined as less than 7mg/dL (1.75 mmol/L) total serum calcium or less than 4mg/dL (1 mmol/L) ionized calcium. Both early onset hypocalcemia (presents within 72h of birth) and late ...
Failure to thrive, dehydration, hyponatremia, metabolic acidosis, hyperkalemia, and other non-specific symptoms including nausea, vomiting, extreme fatigue, and muscle weakness. Pseudohypoaldosteronism type 1 (PHA1) is characterized by the body's inability to respond adequately to aldosterone, a hormone crucial for regulating electrolyte levels.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
Gitelman syndrome; Other names: Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria: A model of transport mechanisms in the distal convoluted tubule.Sodium chloride (NaCl) enters the cell via the apical thiazide-sensitive NCC and leaves the cell through the basolateral Cl − channel (ClC-Kb), and the Na + /K +-ATPase.
Ketotic hypoglycemia refers to any circumstance in which low blood glucose is accompanied by ketosis, the presence of ketone bodies (such as beta-hydroxybutyrate) in the blood or urine. This state can be either physiologic or pathologic; physiologic ketotic hypoglycemia is a common cause of hypoglycemia in children, often in response to ...
1.5 per 1,000 babies [1] Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine (the pylorus). [1] Symptoms include projectile vomiting without the presence of bile. [1] This most often occurs after the baby is fed. [1] The typical age that symptoms become obvious is two to twelve weeks old.