Results 51 to 60 of about 110,198 (324)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases

Cells
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from ...
Anna A. Pendina, Mikhail I. Krapivin, Olga G. Chiryaeva, Lubov’ I. Petrova, Elizaveta P. Pashkova, Arina V. Golubeva, Andrei V. Tikhonov, Alla S. Koltsova, Ekaterina D. Trusova, Dmitrii A. Staroverov, Andrey S. Glotov, Olesya N. Bespalova, Olga A. Efimova   +12 more
doaj   +1 more source

High‐flow nasal cannula oxygen therapy for respiratory management after postoperative re‐intubation/re‐extubation in patients with trisomy 18 and trisomy 13: Two case reports

Clinical Case Reports, 2023
We present two cases of general anesthesia in children with 18, 13 trisomy. One patient had difficulty with intubation and had to be reintubated postoperatively, another developed postoperative acute respiratory distress syndrome.
Hirofumi Hirano, Yoshie Taniguchi, Masato Kato   +2 more
doaj   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Evaluation of Maternal Serum sHLA-G Levels for Trisomy 18 Fetuses Screening at Second Trimester

Frontiers in Genetics, 2021
Human leukocyte antigen-G (HLA-G) has been widely acknowledged to play critical roles in fetal-maternal maintenance. However, the significance of using maternal serum sHLA-G to detect prenatal chromosomal abnormality has not been investigated.
Danping Xu, Yiyang Zhu, Lanfang Li, Yingping Xu, Weihua Yan, Meizhen Dai, Linghong Gan   +6 more
doaj   +1 more source

IONA test for first-trimester detection of trisomies 21, 18 and 13 [PDF]

, 2015
OBJECTIVE: To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA\uae test.
Dumidrascu-Diris, D., Fantasia, I., Francisco, C., Nicolaides, K.H., Poon, L.C   +4 more
core   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Correlation of Pregnancy Associated Plasma Protein A and Zinc with Calculated Risk Ratio of Dual Test [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: First trimester screening by dual test is the most preferred method of antenatal screening. The detection rate of foetal aneuploidy using dual test is 95%.
Indranil Ghoshal, Bolar Suryakanth Varashree, Vijetha Shenoy Belle, Krishnananda Prabhu   +3 more
doaj   +1 more source

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

Evaluating the Diagnostic Utility of Spinal Ultrasound in Neonates With a Simple Sacral Dimple: An Eight‐Year Retrospective Study

Journal of Medical Radiation Sciences, EarlyView.
This study retrospectively analysed eight years of neonatal spinal ultrasound data from a major Australian children's hospital to assess the value of imaging for simple sacral dimples. Out of 448 scans, 195 were for an isolated simple dimple, and only two infants (1%) were found to have spinal dysraphism, both with other congenital anomalies.
Nyles Tattersall, Lateisha Stam, Madonna Burnett, Deborah Starkey, Christopher Edwards, Tristan Reddan   +5 more
wiley   +1 more source