Results 41 to 50 of about 64,887 (307)

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

Embarazo en la adolescencia, comportamiento epidemiológico en Las Tunas en el período 2012-2014

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Fundamento: el embarazo en la adolescencia es un riesgo médico a considerar, no sólo por que determina una elevación de la morbimortalidad materna y un aumento estimado de 2 a 3 veces en la mortalidad infantil, sino también como uno de los factores más ...
Enelis Reyes Reyes, Nora María Orive Rodríguez, Orlando Peña Mancebo, Lisset Romero Portelles, Maidelina Cardosa Paredes   +4 more
doaj  

Metabolic effects of a high-fat diet post-weaning after low maternal dietary folate during pregnancy and lactation

, 2014
Scope Investigate the influence of low-folate supply during pregnancy and lactation on obesity and markers of the metabolic syndrome in offspring, and how provision of a high-fat diet post weaning may exacerbate the resultant phenotype.
Sabine A. S. Langie, Caroline Manus, Jill A. McKay, Mckay, Jill A., Maxwell, Ross J., Manus, Caroline, Dianne Ford, Maxwell, Ross, Long Xie, Ross J. Maxwell, Langie, Sabine A.S.; id_orcid, Xie, Long, Mathers, John C., McKay, Jill, Langie, Sabine, Ford, Dianne, John C. Mathers   +16 more
core   +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

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Education and Labor Market Consequences of Teenage Childbearing: Evidence Using the Timing of Pregnancy Outcomes and Community Fixed Effects [PDF]

The question of whether giving birth as a teenager has negative economic consequences for the mother remains controversial despite substantial research. In this paper, we build upon existing literature, especially the literature that uses the experience ...
Barbara L. Wolfe, Jason M. Fletcher
core   +2 more sources

Estrés, ansiedad y factores asociados en mujeres adolescentes embarazadas y no embarazadas en Medellín (Colombia)

Medicina U.P.B., 2021
Objetivo: Comparar el grado de ansiedad y estrés en dos grupos poblacionales de mujeres adolescentes y su asociación con el embarazo. Metodología: Estudio transversal analítico en 125 adolescentes embarazadas atendidas en el Hospital General de ...
Óscar A Bonilla-Sepúlveda
doaj   +1 more source

Let's Talk: Attitudes and values about sex and relationships among young people and professionals. Findings from Phase 1. [PDF]

, 2007
The Kent Teenage Pregnancy Partnership and the Conseil General de la Somme developed an Interreg action research project in partnership, entitled ‘Let’s Talk’ to explore young people’s attitudes, values and beliefs regarding sex and relationships to go ...
Cappello, Rose, Billings, Jenny R.
core  

Zinc Exposure Causes Disulfidptosis to Induce Miscarriage by Up‐Regulating GATA1/METTL1/SLC7A11 Axis

Advanced Science, EarlyView.
Zn exposure up‐regulates GATA1, promoting GATA1‐mediated METTL1 and SLC7A11 transcription. It also enhances METTL1‐mediated m7G modification on SLC7A11 mRNA, increasing SLC7A11 mRNA stability. Ultimately, Zn exposure up‐regulates SLC7A11 at both transcriptional and post‐transcriptional levels, causing disulfidptosis. Knockdown of murine Slc7a11, Gata1,
Wenxin Huang, Yi Sun, Yanxin Wang, Haijun Yan, Xiaoping Yue, Weidong Wu, Xueyu Chen, Jinfang Zhang, Yanbing Lin, Qiong Lei, Nan Ji, Shuaishuai Xing, Liqin Zeng, Qingzheng Kang, Depeng Zhao, Geng Guo, Huidong Zhang   +16 more
wiley   +1 more source

PERINATAL OUTCOMES OF ADOLESCENT AND ADULT MOTHERS: A SYSTEMATIC REVIEW

Arquivos de Ciências da Saúde da UNIPAR, 2023
Objective: To identify and analyze studies published in the literature that researched adverse perinatal outcomes in live births to adolescent and adult mothers. Methods: The electronic databases PubMed and VHL (LILACS and MEDLINE) were consulted, using
Aldecira Uchôa Monteiro Rangel, Maria Clara Brasileiro Barroso, Francisco Airton Rangel Filho, Milena Fontenele de Oliveira, Jardenia Chaves Domeneguetti, Nilson Vieira Pinto, Aline Veras Morais Brilhante, Mirna Albuquerque Frota   +7 more
doaj   +1 more source