Results 191 to 200 of about 99,772 (304)

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Maternal cholesterol deficiency predisposes congenital heart defects risk. [PDF]

Signal Transduct Target Ther
Gu Y, Gao J, Lv H, Zhou Y, Jiang T, Guo J, Ma W, Cheng Y, Chi X, Xi Q, Ye K, Du J, Li J, Wang C, Dai J, Ma H, Jin G, Lin Y, Shen H, Hu Z.   +19 more
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

The trends of congenital heart defects burden in BRICS-plus from 1990 to 2021 and its projection to 2035. [PDF]

BMC Pregnancy Childbirth
Yi J, Li Z, Zhai Y, Xu Z, Li L, Fu X, Wang Y, Wu Q.   +7 more
europepmc   +1 more source

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

Developmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce, Julie M. Orlando, Kristin G. Cunningham, Sarah M. Ruggiero, Michael C. Kaufman, Jillian L. McKee, Ingo Helbig   +6 more
wiley   +1 more source

Health behaviours as a mediator between health locus of control and cardiovascular risk in young adults with congenital heart defects. [PDF]

Sci Rep
Mroczkowska R, Szwamel K, Szlenk-Czyczerska E, Fiszer R.   +3 more
europepmc   +1 more source

Hammersmith Infant Neurological Examination global scores for predicting neurodevelopmental outcomes after 2 years of age: A systematic review and meta‐analysis

Developmental Medicine &Child Neurology, EarlyView.
Population: n = 21studies, 7299 infants Assessment: Hammersmith Infant Neurological Examination (HINE) Global Scores at 3 months (Corrected age), 6 months, 9 months, and 12 months. Crucial Finding: A HINE score <58 at 3 months predicts cerebral palsy (Sensitivity: 79.6%, Specificity: 88.7%).
Ting‐Ju Kuo, Hung‐Chou Chen, Yuan‐Hung Wang, Sung‐Hui Tseng   +3 more
wiley   +1 more source

Hybrid approach: a prospective option for treating congenital heart defects in pediatric patients. [PDF]

Front Cardiovasc Med
Marassulov S, Lookin O, Nurkeyev B, Kerimkulov A, Murzabayeva S, Tuyakbayev B, Dochshanova R, Maiorov R, Akhmoldayeva A, Kuandykova E, Aldabergenov Y, Raimkhanov T, Adilbekova A.   +12 more
europepmc   +1 more source

Continuous Intraperitoneal Insulin Infusion for People With Type 1 Diabetes: A Literature Review and International Position Statement

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Achieving glucose targets without hypoglycaemia is the treatment goal in type 1 diabetes. Structured education, intensified insulin injection regimens, continuous glucose monitoring, automated insulin delivery, and ongoing support from a multidisciplinary team all support people with type 1 diabetes to achieve this goal. Despite these advances,
Nick Oliver, Bernhard Gehr, Rayhan Lal, Peter R. van Dijk, Eric Renard   +4 more
wiley   +1 more source

A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects. [PDF]

Nat Cardiovasc Res
Kathiriya IS, Dominguez MH, Rao KS, Muncie-Vasic JM, Devine WP, Hu KM, Hota SK, Garay BI, Quintero D, Goyal P, Matthews MN, Thomas R, Sukonnik T, Miguel-Perez D, Winchester S, Brower EF, Forjaz A, Wu PH, Wirtz D, Kiemen AL, Bruneau BG.   +20 more
europepmc   +1 more source