Results 41 to 50 of about 2,591 (165)

‘Bone Health—Across a Woman's Lifespan’

Clinical Endocrinology, Volume 102, Issue 4, Page 389-402, April 2025.
ABSTRACT Despite a high burden of osteoporosis and minimal trauma fractures worldwide, there is still a treatment gap in timely diagnosis and optimal treatment. There is also a lack of international consensus and guidelines on the management of bone fragility in premenopausal women.
Gabrielle Stokes, Madhuni Herath, Navira Samad, Anne Trinh, Frances Milat   +4 more
wiley   +1 more source

Role of the calcium‐sensing receptor in regulating vascular function

Journal of Cell Communication and Signaling, Volume 19, Issue 1, March 2025.
Representation of the role of the CaSR in the vasculature shows that a rise in extracellular Ca2+ concentration ([Ca2+]o) stimulates the CaSR expressed at the plasma membrane of perivascular sensory nerves, VECs, and VSMCs, which leads to the release of vasodilator substances (e.g., calcitonin‐related gene‐related peptide (CGRP), substance P (Sub P ...
Anthony P. Albert, Harry Z.E. Greenberg
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia

Orphanet Journal of Rare Diseases
Objective Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH.
Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, Chun-xiu Gong   +7 more
doaj   +1 more source

An Unusual Presentation of Barakat Syndrome: Gene Deletion at Chromosome 10p15

Case Reports in Nephrology, Volume 2025, Issue 1, 2025.
Barakat syndrome, also known as HDR syndrome (HDRS), is an autosomal dominant genetic disease classically characterized by hypoparathyroidism (H), deafness (D), and renal disease (R). Less than 200 patients have been reported in the literature since it was first described in 1977 and has meanwhile been shown to have considerable genotypic variability ...
Matthew Satariano, Shaarav Ghose, Sergul Erzurum, Erdal Sarac, Poorani Gurumallesh   +4 more
wiley   +1 more source

Juvenile onset IIH and CYP24A1 mutations

Bone Reports, 2018
The term Idiopathic infantile hypercalcemia (IIH) was first introduced almost 70 years ago when symptomatic hypercalcemia developed in children after receiving high doses of vitamin D for the prevention of rickets. The underlying pathophysiology remained
Karl P. Schlingmann, Walburga Cassar, Martin Konrad   +2 more
doaj   +1 more source

Evaluation of Compliance With International Guidelines During the Follow‐Up of Hypoparathyroidism

International Journal of Endocrinology, Volume 2025, Issue 1, 2025.
Aims: Hypoparathyroidism is a disorder that causes renal complications, bone disease, an increased risk of cardiovascular diseases, neuromuscular complications, and ocular findings. In this study, we aimed to determine how well the existing guidelines were followed in the follow‐up of patients with hypoparathyroidism.
Beril Turan Erdogan, Sefika Burcak Polat, Caglar Keskin, Narin Nasiroglu İmga, Didem Ozdemir, Oya Topaloglu, Reyhan Ersoy, Bekir Cakir, Suraiya Saleem   +8 more
wiley   +1 more source

CALCIURIA IN CHILDREN WITH PRIMARY MONO-SYMPTOMATIC NOCTURNAL ENURESIS

Sanamed, 2018
Introduction: The prevalence of idiopathic hypercalciuria (IH) in healthy pediatric population ranges from 3.0% to 7.0%. There is insufficient data about IH in children with mono-symptomatic enuresis.
Mulic Bilsana, Mulic Mersiha, Muminovic Suada, Mulic Mersudin, Vujosevic Snezana, Peco Antic Amira   +5 more
doaj   +1 more source

Drug‐ and Vaccine‐Induced Cutaneous T‐Cell Lymphoma: A Systematic Review of the Literature

Journal of Skin Cancer, Volume 2025, Issue 1, 2025.
Cutaneous T‐cell lymphomas (CTCLs) are a type of non‐Hodgkin lymphoma that usually involves the skin. It has different subtypes including mycosis fungoides (MFs), Sézary syndrome (SS), primary cutaneous anaplastic large lymphoma (PC‐ALCL), lymphomatoid papulosis (LyP), and subcutaneous panniculitis–like T‐cell lymphoma (SPTCL).
Ifa Etesami, Mahshid Sadat Ansari, Elnaz Pourgholi, Sama Heidari, Arezou Rafati, Saeed Bahramian, Bardia Danaei, Sardar Demokri, Patrick Fazeli, Huria Memari, Hadis Mirzaee Godarzee, Bahar Sadeghi, Seyed Mohammad Vahabi, Eugenio Vocaturo   +13 more
wiley   +1 more source

Urinary lithiasis and idiopathic hypercalciuria: the importance of dietary intake evaluation

International Brazilian Journal of Urology, 2010
PUSPOSE: To evaluate food intake of patients with urinary lithiasis and idiopathic hypercalciuria (IH). MATERIALS AND METHODS: Between August 2007 and June 2008, 105 patients with lithiasis were distributed into 2 groups: Group 1 (n = 55) - patients with
Patricia C. G. Damasio, Carmen R. P. Amaro, Silvia J. P. Berto, Natalia B. Cunha, Ana C. Pichutte, Carlos R. Padovani, Joao L. Amaro   +6 more
doaj   +1 more source