Results 151 to 160 of about 59,410 (289)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

TeMPRA: advancing continuing professional development in pediatric rheumatology in Japan. [PDF]

Pediatr Rheumatol Online J
Wakiguchi H, Hashimoto K, Yashiro M, Nishimura K, Ebato T, Akamine K, Uejima Y, Sato T, Yamasaki Y, Yasumura J, Okazaki F, Kizawa T, Yasuoka R, Ishikawa T, Yamamoto T, Fujita Y, Itoh N, Takasaki A, Sakurai N, Suzuki K, Tamai T, Hirano N, Okamoto N, Shimizu M.   +23 more
europepmc   +1 more source

Development of a set of core outcome measures for ambulant children with cerebral palsy after lower limb orthopaedic surgery

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To develop consensus on a core set of standardized outcome measures to be applied to each domain of the previously developed core outcome set for lower limb orthopaedic surgery for ambulant children with cerebral palsy (CP). Method This work consisted of the following three steps: (1) a scoping review of the literature to identify ...
Hajar Almoajil, Sally Hopewell, Helen Dawes, Francine Toye, Rakhshan Kamran, Tim Theologis   +5 more
wiley   +1 more source

Anakinra and hepatotoxicity in pediatric rheumatology: a case series. [PDF]

Pediatr Rheumatol Online J, 2023
Martins FR, Azevedo AC, Ganhão S, Aguiar F, Rodrigues M, Brito I.   +5 more
europepmc   +1 more source

Endodontic diagnostics training in undergraduate dental education: An observational pilot study on AI‐driven virtual patient e‐learning

International Endodontic Journal, EarlyView.
Abstract Aim To develop and evaluate an e‐learning tool utilizing a generative pre‐trained transformer (GPT), a form of artificial intelligence (AI), to allow for realistic conversation on virtual patients when undergoing training on how to diagnose diseases of endodontic origin, and to evaluate improvements in self‐perceived skills.
Marian Prinz, Edgar Schäfer, Sebastian Bürklein, David Donnermeyer   +3 more
wiley   +1 more source

Mental health screening in pediatric rheumatology: a feasibility study. [PDF]

Pediatr Rheumatol Online J
James S, Lolacher L, Hodge K, Slavec J, Draper A, McPhate N, Houghton K, Guzman J, Tucker L.   +8 more
europepmc   +1 more source

Familial Mediterranean fever in northwest of Iran (Ardabil): The first global report from Iran [PDF]

Familial Mediterranean fever (FMF), which is the prototype of the hereditary periodic fever syndromes, is common in the countries around the Mediterranean Sea. Considering its geographical position in the northwest of Iran, with its population of Turkish
امامی, دینا, براک, منوچهر, بشردوست, بهمن, جستان, مارینا, حبیب زاده, شهرام, خلفی, جعفر, ذولفقاری, علی اصغر, صالح زاده, فرهاد, عظیمی, هرمز, فیضی, ایرج, یزدانبد, عباس   +10 more
core  

Caring for Australians and New ZealandeRs with kidney Impairment guideline commentary on kidney disease: improving global outcomes 2025 guidelines for diagnosis and management of autosomal polycystic kidney disease

Internal Medicine Journal, EarlyView.
Abstract Autosomal polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease. The international guideline developer, Kidney Disease: Improving Global Outcomes (KDIGO), published a 2025 clinical practice guideline reflecting advances in genetic testing and the first disease‐modifying agent, tolvaptan.
Mia E. Abdy, Kitty St Pierre, Emily Major, Stephen I. Alexander, Brydee Cashmore, Helen Coolican, Vanessa Cullen, Jessica Dawson, Kelly Lambert, Vincent W. Lee, Amali Mallawaarachi, Gopala Rangan, Judy Savige, Santosh Varughese, David J. Tunnicliffe, Andrew J. Mallett, on behalf of the CARI Guidelines Steering Committee, Emily See, Leanne Brown, Jonathan Craig, Jeffrey Ha, Rathika Krishnasamy, Casey Light, Emmy O'Neill, Thu Nguyen, Hannah Smith, Andrea Viecelli   +26 more
wiley   +1 more source

Childhood Sjögren's Disease: A Literature Review of an Underrecognized Autoimmune Entity in Pediatric Rheumatology. [PDF]

Cureus
Márquez Romero U, Estrella López AS, Panchi Jima JC, Hidalgo Tapia EC, Callejas Torres EA, Suarez Piñeros JK.   +5 more
europepmc   +1 more source

Wearable Electronic Monitoring of Vital Signs in Hospitalised Adults: A Nursing Focused Scoping Review of Clinical, Economic and Implementation Outcomes

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim To synthesise evidence on wearable devices for continuous vital signs monitoring in adult hospital inpatients, focusing on clinical effectiveness, nursing perspectives, workflow impact, patient experience and resource implications. Design Scoping review.
Sian Myfanwy Shaw, Sophie Bethan Shaw, Gillian Janes   +2 more
wiley   +1 more source