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Laboratory findings include low-normal serum calcium, moderately low serum phosphate, elevated serum alkaline phosphatase, and low serum 1,25 dihydroxy-vitamin D levels, hyperphosphaturia, and no evidence of hyperparathyroidism. [8] Hypophosphatemia decreases 2,3-bisphosphoglycerate (2,3-BPG) causing a left shift in the oxyhemoglobin curve.
Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
As a result, X-linked dominant disorders usually show higher expressivity in males than females. [citation needed] As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the sex of the parent carrying a specific gene and can often seem complex.
The disorder is often accompanied by low calcium blood levels, which can result in muscle spasms. [ 1 ] Causes include kidney failure , pseudohypoparathyroidism , hypoparathyroidism , diabetic ketoacidosis , tumor lysis syndrome , and rhabdomyolysis . [ 1 ]
The Late Late Breakfast Show is a British variety show that was broadcast live on Saturday evenings from 4 September 1982 to 8 November 1986 on BBC1. It was presented by Noel Edmonds, initially with co-host Leni Harper, and also featured Mike Smith and John Peel. The "Give It a Whirl" segments featured dangerous stunts. Several serious injuries ...
Downs worked as a radio announcer and program director in 1939 at WLOK in Lima, Ohio, after his first year of college. [12] [13] In 1940, he moved on to WWJ in Detroit.Downs served in the United States Army during World War II in 1943 and then joined the NBC radio network at WMAQ as an announcer in Chicago, where he lived until 1954. [12]
Phosphate diabetes that results from mutations in the PHEX gene is an X-linked dominant disorder, [11] where the mutated gene is located on the X chromosome (one of the sex chromosomes).
Pam Reynolds Lowery (1956 – May 22, 2010), from Atlanta, Georgia, was an American singer-songwriter. [1] In 1991, at the age of 35, she stated that she had a near-death experience (NDE) during a brain operation performed by Robert F. Spetzler at the Barrow Neurological Institute in Phoenix, Arizona.