Results 41 to 50 of about 190,229 (170)

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

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

Hypophosphatemic rickets

, 2012
Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form ...
Padmavathy Menon, Nalini S Shah, Vijaya Sarathi, Tushar Bandgar, Anurag R Lila, Varsha S Jagtap   +5 more
core   +1 more source

Microstructural Evidence for Early Childhood Stress in a Community in Transition at Hisban, Jordan

American Journal of Biological Anthropology, Volume 190, Issue 2, June 2026.
ABSTRACT Objectives Identification of stress across infancy and childhood can reflect maternal and environmental influences on early life health. In the 19th century community of Hisban, many infants died before 2 years of age with evidence of metabolic disease, including rickets, that likely ties with maternal health.
Kristina Cockerille, Akacia Propst, Bonnie Kahlon, Daniel Temple, Megan Perry   +4 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Osteomalacia Following Iron Infusion Therapy in a Patient With Rendu‐Osler‐Weber Syndrome: F‐18‐FDG PET/CT Discrimination of a Stress Fracture in the Setting of a Musculoskeletal Tumor Mimic

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT This case report highlights a rare occurrence of osteomalacia induced by hypophosphatemia secondary to ferric carboxymaltose (FCM) therapy in a patient with hereditary hemorrhagic telangiectasia (HHT, or Rendu‐Osler‐Weber syndrome). A 21‐year‐old man presented with left tibial pain without prior trauma, accompanied by severe hypophosphatemia ...
Ioannis S. Vasios, Pipitsa N. Valsamaki, Konstantinos Tilkeridis, Savvas Deftereos, Efthymios Iliopoulos   +4 more
wiley   +1 more source

Lysophosphatidic Acid Synergizes With 1,25‐Dihydroxyvitamin D to Promote Fibroblast Growth Factor‐23 Synthesis via MAPK Signaling and Induction of the IL12A Gene

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay, Sajin Marcus Cyr, Yorihiro Iwasaki, Elizabeth Hill, Eugene P. Rhee, Nevil J. Singh, Petra Simic, Murat Bastepe   +7 more
wiley   +1 more source

Hypophosphatemic rickets with sacroiliitis-like presentation in an adolescent

, 1997
Rickets can manifest with a wide variety of rheumatic symptoms. In this paper, a fifteen year old female patient with hypophosphatemic rickets presenting with symptoms suggesting sacroiliitis at disease onset is reported, The sacroiliac joint involvement
Basgoze, O, Ugur, ÖMER, Alikasifoglu, A, Cetin, A, Onur, O, Celiker, R   +5 more
core   +1 more source

X-linked Hypophosphatemic Rickets: a New Mutation

, 2021
Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Sousa, H, Maio, P, Mano, L, Abranches, M, Rocha, S, Parente Freixo, J, Francisco, T, Baeta Baptista, R   +7 more
core   +2 more sources

The management of siblings with familial hypophosphatemic rickets.

Helvetica paediatrica acta, 1984
Two siblings (boy and girl) born to a mother with familial hypophosphatemic rickets had abnormal values of serum phosphorus and serum alkaline phosphatase at the age of six weeks. At this age therapy with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and phosphate was started resulting in both siblings having normal growth of body length and ...
Lapatsanis, P. D., Sbyrakis, S., Megreli, C., Edelstein, S.   +3 more
openaire   +2 more sources