Results 61 to 70 of about 3,479 (203)
Acquired long QT syndrome caused by pseudohypoparathyroidism [PDF]
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.
S. I. Blohina +5 more
core +1 more source
Abstract The melanocortin‐4 receptor (MC4R) is a G protein‐coupled receptor with an essential role in appetite suppression and energy homeostasis. Genetic mutations in the receptor and components of its signalling pathway that cause obesity in humans, dogs and rodent models have revealed important insights into how the receptor signals and what ...
Aqfan Jamaluddin +3 more
wiley +1 more source
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi +4 more
wiley +1 more source
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
Incidental Diagnosis of Fahr's Disease Following Severe Traumatic Brain Injury: A Case Report
ABSTRACT Fahr's disease is a rare idiopathic neurodegenerative disorder characterized by symmetrical calcifications in the basal ganglia and cerebellar dentate nuclei. Although it may present with diverse neuropsychiatric symptoms, a significant number of cases remain asymptomatic and are only identified incidentally through neuroimaging performed for ...
Hadi Ebrahimi +5 more
wiley +1 more source
Infantile Pseudohypoparathyroidism
- A case of 35 day old infant is presented who had late onset seizure associated with hypocalcemia, hyperphosphatemia, and raised parathyroid hormone. The infant did not have any stigmata of pseudohypoparathyroidism.
P. Manoj Kumar Reddy +4 more
core
Familial Pseudohypoparathyroidism Presenting in Adult Life1
Three members of one family who presented in adult life with pseudohypoparathyroidism are reported. The importance of screening members of the family of patients with pseudohypoparathyroidism is stressed.
D V Hamilton
core +1 more source
Primary palpebral and orbital ossification in pseudo-pseudohypoparathyroidism
ophthalmology, Albright's heriditary osteodystrophy, ossification, pseudo-pseudohypoparathyroidism, pseodohypoparathyroidism, hypothyroidism, GNAS1 gene, history, eyelid ...
Klauber, S., Prause, J.U., Heegaard, S.
core +1 more source
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
Management of pseudohypoparathyroidism
Purpose of review This review is timely given the 2018 publication of the first international Consensus Statement for the diagnosis and management of pseudohypoparathyroidism (PHP) and related disorders. The purpose of this review is to provide the knowledge needed to recognize and manage PHP1A, pseudopseudohypoparathyroidism ...
openaire +3 more sources

