Results 121 to 130 of about 1,601,175 (301)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Correlation between tongue and pulse indicators and the outcome of live birth in frozen-thawed embryo transfer

Digital Chinese Medicine
Objective: To investigate the correlation between tongue and pulse indicators and the outcome of live birth in patients undergoing frozen-thawed embryo transfer (FET), as well as the association between these indicators and patients’ endocrine parameters.
W.A.N.G. Jinluan, G.U.O. Zhiling, Z.H.A.N.G. Qinhua, Y.A.N. Hua, T.U. Liping, X.U. Jiatuo   +5 more
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Maternal age and birth defects after the use of assisted reproductive technology in Japan, 2004–2010

International Journal of Women's Health, 2013
Syuichi OokiDepartment of Health Science, Ishikawa Prefectural Nursing University, Ishikawa, JapanBackground: Older mothers are becoming more common in Japan. One reason for this is the widespread use of assisted reproductive technology (ART). This study
Ooki S
doaj  

Caesarean section and subsequent pregnancy outcome: a Danish register-based cohort study [PDF]

, 2014
Background and Aims: Caesarean section rates have increased in recent decades and the effects on subsequent pregnancy outcome are largely unknown. Prior research has hypothesised that Caesarean section delivery may lead to an increased risk of subsequent
O'Neill, Sinéad M.
core  

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Evaluation of pre-stimulation anti-mullerian hormone level in predicting cumulative live-birth in IVF [PDF]

, 2011
Theme: Building Consensus in Gynecology, Infertility and Perinatology (BCGIP)BACKGROUND: Serum anti-Mullerian hormone (AMH) level has been used as a useful marker of ovarian response in assisted reproduction.
Ho, PC, Lau, EYL, Lee, VCY, Li, RHW, Ng, EHY, Yeung, WSB   +5 more
core  

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick, Cheick O. Soumah, Malé Doré, Oumar Mara, Desiré Neldje, Fodé A. Cissé, Toure M. Lamine, Aminata Diallo, Seungwon Lee, Siddharth Satish, Alexander J. X. Chen, Alice Liu, Nomin Enkhtsetseg, Farrah J. Mateen, The Guinea Epilepsy Project   +14 more
wiley   +1 more source

Effects of Child Health on Parents' Relationship Status [PDF]

We use data from the national longitudinal Fragile Families and Child Wellbeing Study to estimate the effect of poor child health on father presence. We look at whether parents live in the same household 12-18 months after the child's birth and also at ...
Hope Corman, Kelly Noonan, Nancy E. Reichman   +2 more
core  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source