Results 81 to 90 of about 8,610 (276)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong   +7 more
wiley   +1 more source

Trial of Vaginal Birth After Caesarean (VBAC): Sharing Experience From a Tertiary Care Center of Eastern Nepal

open access: yesJournal of Nobel Medical College, 2018
Background: Rising rates of cesarean section is a matter of great concern and trial of labor in previous cesarean section women is an attractive alternative.
Sita Pokhrel Ghimire   +4 more
doaj   +1 more source

Predictive Value of Modified Lung Ultrasound Score for Late Respiratory Diseases in Premature Infants: A Retrospective Cohort Analysis

open access: yesJournal of Clinical Ultrasound, EarlyView.
This study is to assess the predictive value of the modified lung ultrasound score (mLUS) for late respiratory diseases in premature infants born before 32 weeks of gestation. It is recommended that the use of mLUS scoring be promoted in clinical practice for the early screening of high‐risk preterm infants.
Shuang Zheng   +4 more
wiley   +1 more source

The Application Value of Transvaginal Three‐Dimensional Ultrasonography in the Diagnosis of Adenomyosis of the Uterus

open access: yesJournal of Clinical Ultrasound, EarlyView.
In this study, 3D‐TVS measurements of the uterine junction zone (JZ) in 120 patients showed that a JZmax threshold of ≥ 0.45 cm yielded 77% sensitivity and 89% specificity for adenomyosis diagnosis. Notably, JZ thickness varies minimally with age, demonstrating its stability and excellent diagnostic performance.
Mengyu Li   +3 more
wiley   +1 more source

Silent Spontaneous Uterine Rupture at 36 Weeks of Gestation

open access: yesCase Reports in Obstetrics and Gynecology, 2015
Introduction. Silent spontaneous rupture of the uterus before term, with extrusion of an intact amniotic sac and delivery of a healthy neonate, with no maternal or neonatal morbidity or mortality is very rare.
J. Y. Woo, L. Tate, S. Roth, A. C. Eke
doaj   +1 more source

Steroidopathies and hormonal imbalance in children and adolescents with autism spectrum disorder

open access: yesJCPP Advances, EarlyView.
Abstract Background Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a multifactorial etiology, many aspects of which remain unclear. Emerging evidence suggests a potential association between ASD and clinical manifestations resulting from hormonal imbalances, henceforth named “steroidopathies.” The present study aims to ...
Concetta de Giambattista   +5 more
wiley   +1 more source

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