Results 211 to 220 of about 2,203,451 (295)

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

Transventricular ventricular septal defect closure with device as hybrid procedure in complex congenital cardiac surgeryCentral Message

JTCVS Techniques
Julie Cleuziou, MD, PhD, MBA, Stanimir Georgiev, MD, Paul Philipp Heinisch, MD, PhD, Peter Ewert, MD, PhD, Jürgen Hörer, MD, PhD   +4 more
doaj   +1 more source

A Novel <i>MYRF</i> Variant Presenting With Scimitar Syndrome, Hepatopulmonary Fusion, Right-Sided Congenital Diaphragmatic Hernia, and Uterine Didelphys. [PDF]

Case Rep Pediatr
Sher G, Weaver S, Adwani R, Udassi JP.
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

Structural Heart Interventions in Women with Congenital Heart Disease. [PDF]

Curr Cardiol Rep
Coppola JA, Barforoshi S, Chung J, Jone PN, Kulkarni A, Co-Vu J.   +5 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

Placental pathology in fetuses with and without congenital heart defects. [PDF]

Pregnancy (Hoboken)
Doiron TE, Besmer S, Guerrero J, Salas J, Fox L, Zantow E, Chavan NR.   +6 more
europepmc   +1 more source

Standing diverticulectomy for treatment of a pulsion oesophageal diverticulum in a horse

Equine Veterinary Education, EarlyView.
Summary A 7‐year‐old Quarter Horse gelding was presented for evaluation and treatment of a pulsion oesophageal diverticulum diagnosed 8 months earlier following repeated episodes of oesophageal obstruction. Diagnostic imaging—including cervical radiographs, ultrasound and endoscopy—was used to diagnose and evaluate the lesion and guide surgical ...
Y. Tanaka, D. Major
wiley   +1 more source

Congenital Anomaly Prevalence: A 10-Year Retrospective Study in a Tertiary Hospital in Turkey. [PDF]

Birth Defects Res
Çetin H, Sorkun S, Lafcı İ, Kılıç D, Kaleli B, Özdemir ÖMA, Vural BK.   +6 more
europepmc   +1 more source

Cisterna Chyli Dilation Is a Risk Factor for Liver Nodules and Hepatocellular Carcinoma in Fontan‐Associated Liver Disease: Pathophysiological Role of Lymphatic Dysfunction

Hepatology Research, EarlyView.
ABSTRACT Aim In Fontan‐associated liver disease (FALD), chronic congestion often confounds conventional fibrosis markers, complicating surveillance for hepatocellular carcinoma (HCC). Although lymphatic dysfunction is fundamental to Fontan physiology, its contribution to hepatocarcinogenesis remains unclear.
Koji Imoto, Masatake Tanaka, Takeshi Goya, Yuuki Azuma, Tomonobu Hioki, Yusuke Morita, Keisuke Sakaguchi, Nobuhiro Fujita, Takamori Kakino, Ayako Ishikita, Kenichiro Yamamura, Ichiro Sakamoto, Kousei Ishigami, Kohtaro Abe, Yoshihiro Ogawa   +14 more
wiley   +1 more source