Results 41 to 50 of about 3,541,809 (284)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Hyperhomocysteinemia in Recurrent pregnancy loss [PDF]

, 2017
Background: Hyperhomocysteinemia is associated with many pregnancy related complications. Its association with recurrent pregnancy loss has been investigated recently.
Hemanshu B., Bhatia, Nisha, B., Hemanshu, Nisha Bhatia   +3 more
core   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

The Role of Seminal Oxidative Stress in Recurrent Pregnancy Loss

Antioxidants, 2023
Recurrent pregnancy loss is a distressing condition affecting 1–2% of couples. Traditionally investigations have focused on the female, however more recently researchers have started to explore the potential contribution of the male partner.
Rhianna Davies, Channa N. Jayasena, Raj Rai, Suks Minhas   +3 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Shotgun metagenomic mapping of saliva reveals insights into diversity and function of the oral microbiome in pregnancy

Scientific Reports
The oral microbiome is a complex and dynamic microecosystem that fluctuates continually throughout the lifespan of a woman. Nevertheless, the function of the oral microbiome in reproductive health is not yet fully understood.
Nagihan Bostanci, Anusha T. Antony, Angelika Silbereisen, Tina Esmaili, Maria C. Krog, Irene Sterpu, Zahra Bashir, Lars Engstrand, Eva Wiberg-Itzel, Henriette Svarre Nielsen, Luisa W. Hugerth, Ina Schuppe-Koistinen   +11 more
doaj   +1 more source

Investigations of microbiota composition and neuroactive pathways in association with symptoms of stress and depression in a cohort of healthy women

Frontiers in Cellular and Infection Microbiology
BackgroundDespite mounting evidence of gut-brain involvement in psychiatric conditions, functional data remain limited, and analyses of other microbial niches, such as the vaginal microbiota, are lacking in relation to mental health.
Zahra Bashir, Zahra Bashir, Zahra Bashir, Luisa W. Hugerth, Luisa W. Hugerth, Maria Christine Krog, Maria Christine Krog, Maria Christine Krog, Stefanie Prast-Nielsen, Gabriella Edfeldt, Fredrik Boulund, Fredrik Boulund, Simon Rønnow Schacht, Inge Tetens, Lars Engstrand, Lars Engstrand, Ina Schuppe-Koistinen, Ina Schuppe-Koistinen, Emma Fransson, Emma Fransson, Henriette Svarre Nielsen, Henriette Svarre Nielsen, Henriette Svarre Nielsen, Henriette Svarre Nielsen   +23 more
doaj   +1 more source

Sonohysterography for screening in recurrent pregnancy loss

Fertility and Sterility, 1997
To evaluate the role of sonohysterography for screening of the uterine cavity in patients with recurrent pregnancy loss.Prospective evaluation of sonohysterography, including comparison with available hysterosalpingography and hysteroscopy.University referral center.Thirty-four reproductive-aged women with at least two consecutive pregnancy losses ...
M D, Keltz, D L, Olive, A H, Kim, A, Arici   +3 more
openaire   +2 more sources

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Insulin resistance in women with recurrent miscarriage: a systematic review and meta-analysis

BMC Pregnancy and Childbirth, 2022
Purpose This review aimed to investigate the association of insulin resistance (IR) in women with recurrent pregnancy loss compared to women with normal pregnancy history.
Wang-Yu Cai, Xi Luo, Hou-Yi Lv, Kai-You Fu, Jian Xu   +4 more
doaj   +1 more source