Results 51 to 60 of about 2,322 (168)
Indian Journal of Endocrinology and Metabolism, 2011 Pseudohypoparathyroidism type-1b is a hereditary disorder of clinical hypoparathyroidism without AHO phenotype, characterized by blunted nephrogenous cyclic-AMP (cAMP) response to exogenous parathyroid hormone (PTH).
Sandeep Kharb +3 more
doaj +1 more source
Clinical Genetics, Volume 107, Issue 3, Page 354-358, March 2025.We propose that variants leading to the skipping of exon 20 in the EP300 gene result in a severe form of Rubinstein–Taybi syndrome (RSTS). In our study, we identified two patients with de novo variants, and in one case, we confirmed exon 20 skipping. DNA methylation analysis supported the RSTS diagnosis; however, the episignature did not align with the
Lisa Pavinato +18 more
wiley +1 more source
Acta Medica, 2018 Calcium is essential for proper muscular function and metabolism. Myopathy with high creatinkinase activity can be a rare manifestation of hypocalcemia of various origin, such as vitamin D deficiency, hypoparathyroidism, pseudohypoparathyroidism (PHP ...
Štěpán Kutílek +4 more
doaj +1 more source
A Rare Presentation of Fahr's Syndrome Associated With Secondary Hyperparathyroidism
Clinical Case Reports, Volume 13, Issue 1, January 2025.ABSTRACT Fahr's syndrome (FS) is a rare disorder characterized by intracerebral calcification, presenting with various neuropsychiatric symptoms. This case highlights a rare presentation of FS with secondary hyperparathyroidism. It underscores the importance of comprehensive evaluation of early symptoms, effective use of diagnostic procedures, and ...
Simin Najafgholian +3 more
wiley +1 more source
Indian Journal of Endocrinology and Metabolism, 2014 The dance of Siva has a cosmic appeal. Nowhere has this dance been crystallised in its pristine form as in the Nataraja Bronzes from the Chola period. Mysticism surrounds the dancing form of the Nataraja. But does Nataraja dance upon an endocrine mystery.
Krishna G Seshadri
doaj +1 more source
Hyperphosphatemia in Celiac Disease: Hereditary or Acquired Pseudohypoparathyroidism
Endocrinology Research and Practice, 2007 Calcium and vitamin D deficiencies caused by intestinal malabsorption in celiac disease lead to severe impairments of calcium and bone metabolisms. Indeed, malabsorption of calcium results in secondary hyperparathyroidism.
Ramazan Gen +2 more
doaj +2 more sources
Fahr’s Syndrome With Neurocognitive Dysfunction Due to Hypoparathyroidism: A Case Report
Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.Background: Fahr’s syndrome is a rare neurodegenerative condition characterized by bilateral progressive calcification of the basal ganglia and other brain structures. Due to overlapping symptoms, it can be misdiagnosed as other neurological disorders.
Faezeh Sehatpour +3 more
wiley +1 more source
Genetic Landscape of Obesity in Children: Research Advances and Prospects
Journal of Obesity, Volume 2025, Issue 1, 2025.Obesity is a chronic metabolic disease characterized by excessive accumulation or uneven distribution of fat in the body, which poses a serious threat to health. Obesity significantly increases the risk of developing сonditions such as type 2 diabetes, coronary heart disease, hypertension, obstructive sleep apnea, and some types of cancer.
Rita Khusainova +11 more
wiley +1 more source
Short fourth and fifth metacarpals in a case of idiopathic primary hypoparathyroidism
Indian Journal of Endocrinology and Metabolism, 2013 Shortening of metacarpals is a useful diagnostic marker in patients with pseudohypoparathyroidism type Ia (PHP-Ia) with Albright′s hereditary osteodystrophy (AHO) phenotype or pseudopseudohypoparathyroidism (PPHP).
Neda Valizadeh +2 more
doaj +1 more source
Acquired long QT syndrome caused by pseudohypoparathyroidism
Наука и инновации в медицине, 2020 The article presents a review of literature data on the long QT syndrome (LQTS), focusing on the role of secondary factors in the development of this disorder.
L. A. Balykova +5 more
doaj +1 more source