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pseudohypoparathyroidism/phosphatase
Krækjan er vistuð á klemmuspjaldið
Bls 1 frá 27 niðurstöður
Pseudohypoparathyroidism with raised plasma alkaline phosphatase.
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Transient pseudohypoparathyroidism of the neonate.
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We report three neonates with transient hypoparathyroidism with elevated parathyroid hormone (PTH) levels to clarify further the pathogenesis of late neonatal hypocalcemia and calcium homeostasis. Clinical signs were seizures starting at age of 10 and 11 days. The biochemical features were
Reduced bone growth in rats treated with anticonvulsant drugs: a type II pseudohypoparathyroidism?
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The effect of anticonvulsant drugs on bone growth and calcium metabolism was studied in Wistar strain rats. Animals were treated for 40-48 days with diphenylhydantoin (DPH) or sodium valproate (SV), or were thyroparathyroidectomized (TPTX) and maintained with thyroxine supplements. Bone growth,
[Serum osteocalcin concentration in a patient with pseudohypoparathyroidism type Ib].
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A seventeen-year-old youth was presented with muscle cramps and convulsions. A brain CT scan showed calcification in the region of the ganglia, and a diagnosis of brain tumor was thus made and an anticonvulsant given for two years. At age nineteen, the patient developed pseudohypoparathyroidism
Bone Status among Patients with Non-Surgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism: a Cohort Study.
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Nonsurgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP) are both rare diseases, characterized by hypocalcemia. In Ns-HypoPT, PTH levels are low, whereas patients with PHP often have very high levels due to receptor-insensitivity to PTH (PTH-resistance). Accordingly, we
[Sensitivity of bone to parathyroid hormone in type I pseudohypoparathyroidism. 6 cases].
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The sensitivity of bone to parathormone in pseudoparathyroidism is not well known. Six patients with Type I pseudohypoparathyroidism (4 with Albright's osteodystrophy) had increased alkaline phosphatase levels (5 patients) and radiological signs of periosteal resorption in the hand in one case. All
Pseudohypoparathyroidism: a rare but important cause of hypocalcaemia.
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We present a 46-year-old Caucasian lady with symptomatic hypocalcaemia. Investigations revealed markedly raised parathyroid hormone (PTH) levels with vitamin D deficiency. A number of conditions causing secondary hyperparathyroidism were ruled out from her medical history and initial investigations.
Biochemical markers of bone turnover, intact serum parathyroid horn and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment.
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In addition to the well-documented hyporesponsiveness of the kidney, resistance to parathyroid hormone (PTH) has been postulated for bone in pseudohypoparathyroidism type I (PHP). In some of these patients reduced bone density and even frank osteitis fibrosa suggest osteoclastic overactivity. To
[Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ib and II].
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TYPE IB PSEUDOHYPOPARATHYROIDISM: Parathormone resistance is the only manifestation of type Ib pseudohyoparathyroidism, the Albright osteodystrophy and multiple hormone resistance described in type Ia are not observed. In type Ib there is a certain preservation of bone sensitivity to parathormone
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism.
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Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25-hydroxyvitamin D (25(OH)D) levels.
Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone.
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A young girl had tibial osteotomies at age 14 for genu valgum and then had recurrent tibial cysts over a number of years. Hypocalcemia and hyperphosphatemia were first noted at age 21. The diagnosis of pseudohypoparathyroidism was made at age 28, when elevated plasma PTH was detected. Clinical and
Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease.
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Three cases of pseudohypoparathyroidism with roentgenographic evidence of hyperparathyroid bone disease are described. Renal resistance to exogenous parathyroid hormone (PTH), the hallmark of pseudohypoparathyroidism, was documented by markedly blunted or absent urinary phosphate and cyclic AMP
Multiple pre- and postreceptor defects in pseudohypoparathyroidism (a multicenter study with twenty four patients).
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Three different pathophysiological mechanisms are probably responsible for hereditary pseudohypoparathyroidism: 1) a defect at the prereceptor-level, 2) a defective membrane N-protein accounting for diminished second messenger production, and 3) a defect in the cytosolic response to the hormone. In
Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism.
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Pseudohypoparathyroidism type Ia (PHP Ia) is a rare disease characterized by an elevated parathyroid hormone due to the resistance to its action in target tissues. We report a new GNAS mutation causing PHP Ia and an atypical early-onset primary hypothyroidism. A 3-year-old boy was diagnosed with
Renal-nonresponsive, bone-responsive pseudohypoparathyroidism. A case with normal vitamin D metabolite levels and clinical features of rickets.
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Clinical signs of rickets developed in a previously healthy 13-year-old girl with normal features. She had hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase and parathyroid hormone levels, and normal vitamin D metabolite levels, with osteitis fibrosa cystica on bone biopsy specimen. Her
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