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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 ...
Hypokalemia is a low level of potassium (K +) in the blood serum. [1] Mild low potassium does not typically cause symptoms. [3] Symptoms may include feeling tired, leg cramps, weakness, and constipation. [1] Low potassium also increases the risk of an abnormal heart rhythm, which is often too slow and can cause cardiac arrest. [1] [3]
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.
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.
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 ...
A study has revealed that serum progesterone concentrations in boys (10 days to 18 years old) with 21-hydroxylase deficiency reached levels up to 10.14 ng/mL, i.e. similar to female luteal values, while in the control group of boys average level was 0.07 ng/mL (0.22 nmol/L), with values ranging from 0.05 to 0.40 ng/mL. [38]
Congenital nephrotic syndrome. Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3 months of life, and is characterized by high levels of protein in the urine (proteinuria), low levels of protein in the blood, and swelling. [1] This disease is primarily caused by genetic mutations which result in ...