Results 211 to 220 of about 2,016,730 (252)

Resistance to Thyroid Hormone in a Boy with a Severe, Complex, Congenital Heart Defect (CHD) Requiring Multiple Cardiac Surgeries-Whether and How to Prepare Child for the Surgery. [PDF]

J Clin Med
Fedorczak A, Kruk B, Mazurek-Kula A, Kępczyński Ł, Stawerska R.   +4 more
europepmc   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

Pooled prevalence and subgroup variations of Tetralogy of Fallot among children and adolescents with congenital heart defect in Sub-Saharan Africa: A systematic review and meta-analysis. [PDF]

PLoS One
Geleta BE, Mulu A.
europepmc   +1 more source

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

Commentary: Concomitant Pulmonary Artery Angioplasty after Congenital Heart Defect Repair: Should We Consider Early Independent Surgery? [PDF]

J Chest Surg
Lee WY.
europepmc   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Hydrops fetalis caused by a complex congenital heart defect with concurrent hypoplasia of pulmonary blood vessels and lungs visualized by micro-CT in a French Bulldog. [PDF]

BMC Vet Res
Szaluś-Jordanow O, Barszcz K, Mądry W, Buczyński M, Czopowicz M, Gierulski A, Moroz-Fik A, Mickiewicz M, Grzegorczyk M, Jaroszewicz J.   +9 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

Predictors of in-ICU length of stay among congenital heart defect patients using artificial intelligence model: A pilot study. [PDF]

Heliyon
Chang Junior J, Caneo LF, Turquetto ALR, Amato LP, Arita ECTC, Fernandes AMDS, Trindade EM, Jatene FB, Dossou PE, Jatene MB.   +9 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