Results 31 to 40 of about 2,414 (178)

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults [PDF]

, 2019
Hereditary tubulopathies are rare diseases with unknown prevalence in adults. Often diagnosed in childhood, hereditary tubulopathies can nevertheless be evoked in adults.
Hureaux, M, Schaefer, Franz, Rotthier, Annelies, Blanchard, A, Dahan, Karin, Kleta, R, Houillier, P, Hureaux, Marguerite, Devuyst, Olivier, Walsh, SB, Koumakis, Eugenie, Cormier, Catherine, Hilbert, P, Hilbert, Pascale, Cormier, C, Vargas-Poussou, Rosa, Ashton, E, Belge, H, Jeunemaitre, X, Schaefer, F, Devuyst, O, Jeunemaitre, Xavier, Belge, Hendrica, Koumakis, E, Bockenhauer, D, Vargas-Poussou, R, Kleta, Robert, Blanchard, Anne, Houillier, Pascal, Del Favero, Jurgen, Dahan, K, Del Favero, J, Ashton, Emma, Devuyst, Olivier; https://orcid.org/, Walsh, Stephen B., Iancu, Daniela, Bockenhauer, Detlef, Iancu, D, Walsh, Stephen B, Rotthier, A   +39 more
core   +1 more source

Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia

Journal of the Endocrine Society, 2022
Abstract The rare genetic disorder X-linked hypophosphatemia (XLH) is often exclusively considered to impact children, and, as such, adult patients with XLH may receive inadequate care because their symptoms are not associated with XLH.
Amber A Hamilton, Susan Faitos, Gin Jones, Athina Kinsley, Rupal Naik Gupta, E Michael Lewiecki   +5 more
openaire   +2 more sources

Dent's disease

Orphanet Journal of Rare Diseases, 2010
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.
Thakker Rajesh V, Devuyst Olivier
doaj   +1 more source

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

Hormone and Metabolic Research, 2023
AbstractX-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who ...
Shadan Jabbar Abdullah, Taha Othman Mahwi, Areewan Mohamad Salih Saeed, Darya Saeed Abdulateef, Heshu Sulaiman Rahman, Shaho Fatah Ahmed, Sarkan Ahmed Abdulqader   +6 more
openaire   +2 more sources

Examining the Role of Artificial Intelligence in Assessment: A Comparative Study of ChatGPT and Educator‐Generated Multiple‐Choice Questions in a Dental Exam

European Journal of Dental Education, EarlyView.
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer, Yusuf Balcı, Gaye Bölükbaşı, Betul İlhan, Pelin Güneri   +4 more
wiley   +1 more source

Dialysis and Pregnancy: Optimizing Therapy for Best Maternal and Fetal Outcomes

Hemodialysis International, EarlyView.
ABSTRACT Pregnancy in women with end‐stage kidney disease (ESKD) requiring dialysis remains high risk, with significant maternal and fetal complications. While fertility rates are markedly reduced in this population, advances in dialysis care and obstetric management have led to increasing reports of successful pregnancies.
Shreepriya Mangalgi, Silvi Shah
wiley   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Vitamin D Resistant Rickets (Familial Hypophosphatemia)

Eurasian Journal of Medicine, 2019
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Ayla San, Faruk Memik, Yekta Leblebicioğlu   +2 more
doaj