Results 31 to 40 of about 3,479 (203)

Avascular necrosis of the hip: A unique presentation of pseudohypoparathyroidism [PDF]

, 2019
Pseudohypoparathyroidism is a rare, heterogeneous disorder characterized by parathyroid hormone resistance. Its association with avascular necrosis of the hip has been reported infrequently in the past.
RS, Riyas, Chowdhury, Abhra, Sahana, Pranab Kumar, Valsaraj, Rahul, Goswami, Soumik, Sengupta, Nilanjan, Baidya, Arjun   +6 more
core   +1 more source

Prevalence of Pseudohypoparathyroidism and Nonsurgical Hypoparathyroidism in Japan in 2017: A Nationwide Survey

Journal of Epidemiology, 2023
Background: Pseudohypoparathyroidism (PHP) and nonsurgical hypoparathyroidism (NS-HypoPT) are rare diseases with hypocalcemia, hyperphosphatemia, and high and low parathyroid hormone levels, respectively.
Rieko Takatani, Takuo Kubota, Masanori Minagawa, Daisuke Inoue, Seiji Fukumoto, Keiichi Ozono, Yosikazu Nakamura   +6 more
doaj   +1 more source

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation

JCRPE, 2022
Pseudohypoparathyroidism (PHP) type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes.
Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-Aroon, Kinnaree Sorapipatcharoen,, Preamrudee Poomthavorn   +4 more
doaj   +1 more source

Syndrome Fahr: Neurologic manifestation of endocrine disease [PDF]

Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2020
Syndrome Fahr is described as calcification of the basal ganglia and is a rare inherited or sporadic neurological disease with a prevalence of 1:1000000 (1). For the first time described in 1930 in the works of Dr.
Miletić Marija, Stojanović Miloš, Nedeljković-Beleslin Biljana, Stojković Mirjana, Ćirić Jasmina, Žarković Miloš   +5 more
doaj  

Albright Hereditary Osteodystrophy: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
A dental practitioner with an eagle’s eye can diagnose many hidden disease through careful examination of the oral cavity. One such hereditary metabolic disorder is Albright hereditary osteodystrophy (AHO).
Deepa Hugar, Sangameshwar Sajjanshetty, Santosh Hugar, Megha Kadani   +3 more
doaj   +1 more source

Hypoparathyroidism: etiology, clinical manifestation, current diagnostics and treatment

Alʹmanah Kliničeskoj Mediciny, 2016
Parathyroid hormone (PTH) is the main regulator of calcium and phosphorus metabolism. PTH deficiency or tissue resistance to its effects results in hypoparathyroidism characterized by low serum calcium and elevated serum phosphate levels. The most common
A. K. Eremkina, E. V. Kovaleva
doaj   +1 more source

Hypocalcemic recurrent generalized seizures with bilateral basal ganglia and frontal calcification as the initial manifestation of Albright’s hereditary osteodystrophy in a child: A pictorial and video-graphic representations

Journal of Pediatric Neurosciences, 2019
Albright hereditary osteodystrophy (AHO) is a hereditary metabolic disorder that presents with seizure secondary to hypocalcaemia. A careful phenotypic assessment of patients presenting with seizure clues to the diagnosis of AHO.
Akhilesh Kumar Nunavath, Sandhya Manorenj, Srikant Jawalker, Bushra Naaz   +3 more
doaj   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Endocrine Connections, 2022
Objective: This study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is ...
Nobuo Matsuura, Tadashi Kaname, Norio Niikawa, Yoshihide Ooyama, Osamu Shinohara, Yukifumi Yokota, Shigeyuki Ohtsu, Noriyuki Takubo, Kazuteru Kitsuda, Keiko Shibayama, Fumio Takada, Akemi Koike, Hitomi Sano, Yoshiya Ito, Kenji Ishikura   +14 more
doaj   +1 more source

IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 16, Issue 5, October 2026.
ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente, Erica L. T. van den Akker, Metin Cetiner, Karine Clément, Elizabeth Forsythe, Alastair Garfield, Peter Kühnen, Gabriel Ángel Martos‐Moreno, David Meeker, Hermann L. Müller, Hanneke M. van Santen, Julia von Schnurbein, Bérénice Segrestin, Tomohiro Tanaka, Manuel Tena‐Sempere, Martin Wabitsch, Stefanie Zorn, I. Sadaf Farooqi   +17 more
wiley   +1 more source