Results 161 to 170 of about 869,874 (249)

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Prognostic Value of Serial Lactate Measurement in Pediatric Cardiac Surgery Patients with Congenital Heart Disease in Southeast Mexico. [PDF]

Med Sci (Basel)
Sanchez-Felix E, Olivera-Mar A, Santaularia-Tomas M, Johnson-Herrera J, Ortiz-Vera L, Perez-Navarrete A, Rivero-Peraza M, Mendez-Dominguez N.   +7 more
europepmc   +1 more source

BILATERAL CONGENITAL PTOSIS WITH CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES (CFEOM) IN MONOZYGOTIC TWINS

, 2022
B. Aneesha Priya, T. Anusha
openalex   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Knowledge and Awareness of Parents Regarding Congenital Inguinal Hernia and Its Complications in the Pediatric Population in Makkah Region, Saudi Arabia. [PDF]

Cureus
Almaliki MK, Alghamdi GA, Mahrouqi RM, Alsharif RS, Alsabban MW, Felemban WH, Ageel MH.   +6 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Magnitude, pattern, birth outcome, and determinants of congenital anomalies among newborns in Ethiopia. [PDF]

BMC Pediatr
Mammo TN, Negash S, Chalachew T, Tizazu A, Robele A, Dejene B, Derbew M, Seid Y.   +7 more
europepmc   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Recurrent pneumonia unmasks congenital lobar emphysema in a 2-month-old infant: Radiological insights from a rare ICU case report. [PDF]

Radiol Case Rep
Arabi ME, Maarad M, Markaoui I, Chatar M, Aberkane M, Berrichi S, Bkiyar H.   +6 more
europepmc   +1 more source

Feasibility of screening for congenital heart disease in newborns [PDF]

, 2008

openalex   +1 more source