Results 231 to 240 of about 543,158 (361)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Assessment of the Efficacy of the Google Gemini 2.5 Pro Model in Solving the Polish State Specialization Exam in Pediatric Surgery. [PDF]

Cureus
Boczkowski D, Dolata T, Radej D, Sawina P, Suleiman R, Latkowska A, Kowalczyk A, Loson-Kawalec M, Jaworski W, Wielochowska A, Olender M, Latkowska A, Dadynska P, Majchrowicz W, Stachowicz A.   +14 more
europepmc   +1 more source

Good Practice in Postoperative and Procedural Pain Management 2nd Edition [PDF]

, 2012
CARTER, BERNIE, Curry, Joe, Howard, Richard, Jain, Anoo, Liossi, Christina, Morton, Neil, Rivett, Kate, Rose, Mary, Tyrell, Jennifer, Walker, Suellen, Williams, Glynn   +10 more
core  

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Retrospective Development of an AI Model Combining Ultrasound and Clinical Data for Pediatric Appendicitis Differentiation

Emergency Medicine International
Rongying Tan, Yongteng Li, Jianjun Wang, Jixian He, Xiaoting Ding, Yanlin Mou, Xi Zhang, Chen Zhong, Liucheng Yang, Kai Wu   +9 more
doaj   +1 more source

Optimizing inter-joint distances of robotic forceps for vertical needle driving in pediatric surgery: a virtual reality simulator study. [PDF]

Int J Comput Assist Radiol Surg
Aono K, Kawamura K, Akimitsu D, Katayama M, Takahashi R, Terazawa H, Murakami M, Ieiri S.   +7 more
europepmc   +1 more source

Clinical and radiographic outcomes after posterior vertebral column resection for severe spinal deformity with five-year follow-up [PDF]

, 2018
Blanke, Kathy M, Chapman, Todd M, Jr, Kelly, Michael P, Lenke, Lawrence G, Riley, Max S, Sides, Brenda A   +5 more
core   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

The digital transformation and future era: bibliometric view of artificial intelligence application in pediatric surgery. [PDF]

Front Pediatr
Shu B, Zhang S, Gao J, Wang L, Wang X.
europepmc   +1 more source