Results 161 to 170 of about 2,234,422 (257)

Handing off hope: transition of care in pediatric surgery. [PDF]

Surg Endosc
Wunker CM, Slater BJ, Gerardo R, Gurien L, Harmon CM, Pratt JSA, Gasior AC.   +6 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Minimal access surgery in Pediatric Surgery

Journal of Indian Association of Pediatric Surgeons, 2014
Sandesh Vinod Parelkar
doaj   +1 more source

Assessing the knowledge, attitudes and practices of physicians on perioperative antibiotic prophylaxis in pediatric surgery in China: a descriptive study. [PDF]

Front Pediatr
Sun Y, Sun C, Chen F, Xu J, Yuan L.
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Perforated Meckel’s Diverticulum in a Neonate With Bucket-Handle Anorectal Malformation: A Rare Surgical Emergency

Case Reports in Pediatrics
Umar Mahmood, Rija Khalid, Chaudhary Ehtsham Azmat, Wajeeh Ur Rehman, Sunaina Siddique, Raisa Bakhat   +5 more
doaj   +1 more source

The Eastern Pediatric Surgery Network: Creation and implementation of a comprehensive clinical research collaborative in pediatric surgery. [PDF]

J Clin Transl Sci
Griggs CL, Stetson A, Lipskar AM, Slidell MB, Chandler NM, Finck C, Middlesworth W, Rangel SJ, Robertson JO, Alemayehu H, Allukian M, DeFazio JR, Feng C, Hornick MA, Knod JL, Kulaylat AN, McLean SE, Prince JM, Puder M, Robinson JR, Russell RT, Scholz S, Sescleifer AM, Hackam DJ, Kunisaki SM.   +24 more
europepmc   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Impact of expanded pediatric surgery add-on payments on claimed surgical fees: a multi-institutional data analysis. [PDF]

Ann Surg Treat Res
Son J, Lee S, Park S, Kim W, Kim W, Seo JM, Oh C.   +6 more
europepmc   +1 more source