Results 81 to 90 of about 7,233,987 (192)

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT A 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1.
Muhammad Wajid Siddique, Muhammad Hanzla Shahzad, Mifrah Rahat Khan, FNU Mahparah, Kanchan kumari, Muhammad Husnain Ahmad   +5 more
wiley   +1 more source

Lack of Differences in the Pharmacokinetics of Therapeutic Monoclonal Antibodies Between Japanese and Non‐Japanese Individuals

The Journal of Clinical Pharmacology, Volume 66, Issue 8, August 2026.
Abstract Evaluation of the pharmacokinetics (PK) of new drugs in Japanese individuals is regularly requested by the Japanese regulatory agency prior to participation in global clinical trials or for bridging approaches for regulatory approval. However, the need for PK assessments in the Japanese population may be less compelling for monoclonal ...
Paridhi Gupta, Ashish Sharma, Bernd Meibohm   +2 more
wiley   +1 more source

X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

Bone Reports
X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and ...
Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios   +8 more
doaj   +1 more source

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, Volume 30, Issue 3, Page 881-895, August 2026.
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

Efficacy and safety of burosumab compared with conventional therapy in patients with X-linked hypophosphatemia: A systematic review

Archives of Endocrinology and Metabolism
Burosumab, a monoclonal antibody directed against the fibroblast growth factor 23 (FGF23), has been approved for the treatment of X-linked hypophosphatemia (XLH).
Manjunath Havalappa Dodamani, Samantha Cheryl Kumar, Samiksha Bhattacharjee, Rohit Barnabas, Sandeep Kumar, Anurag Ranjan Lila, Saba Samad Memon, Manjiri Karlekar, Virendra A. Patil, Tushar R. Bandgar   +9 more
doaj   +1 more source

Growth hormone treatment improves final height in children with X-linked hypophosphatemia

Orphanet Journal of Rare Diseases, 2022
Background/aim Despite optimal conventional treatment (oral phosphate supplements and active vitamin D analogs), about 40–50% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, making them less likely to achieve ...
Julia André, Volha V. Zhukouskaya, Anne-Sophie Lambert, Jean-Pierre Salles, Brigitte Mignot, Claire Bardet, Catherine Chaussain, Anya Rothenbuhler, Agnès Linglart   +8 more
doaj   +1 more source

Hypovitaminosis D‐Induced Secondary Hyperparathyroidism With Concomitant Femoral Fracture in a Chronic Hepatitis B Patient: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Vitamin D deficiency and secondary hyperparathyroidism (SHPT) are preventable causes of metabolic bone disease, yet they may remain clinically silent until catastrophic skeletal events occur. Chronic hepatitis B virus (HBV) infection has been increasingly linked to disordered bone and mineral metabolism, even in the absence of cirrhosis.
Walter Appati, Kojo Awotwi Hutton‐Mensah, Landrop Aidoo, Naa Akweley Suma Otchwemah   +3 more
wiley   +1 more source

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia.

, 2003
Background: Mutations in fibroblast growth factor 23 (FGF-23) cause autosomal dominant hypophosphatemic rickets. Clinical and laboratory findings in this disorder are similar to those in oncogenic osteomalacia, in which tumors abundantly express FGF-23 ...
Hampson, G, Econs, M J, Imanishi, Y, Koshiyama, H, Oba, K, Yang, I M, Jonsson, K B, Juppner, H, Lavigne, J, Yamamoto, T, White, K E, Zahradnik, R, Ljunggren, O, Miyauchi, A, Larsson, T, Sugimoto, T   +15 more
core   +1 more source

Hypertension is a characteristic complication of X-linked hypophosphatemia

Endocrine Journal, 2017
X-linked hypophosphatemia (XLH) is a group of rare disorders caused by defective proximal tubular reabsorption of phosphate. Mutations in the PHEX gene are responsible for the majority of cases. There are very few reports of long-term complications of XLH other than skeletal and dental diseases.
Nakamura, Yoshie, Takagi, Masaki, Takeda, Ryojun, Miyai, Kentaro, Hasegawa, Yukihiro   +4 more
openaire   +3 more sources

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