Results 71 to 80 of about 4,044,988 (312)

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

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

Recurrence of Preeclampsia in Northern Tanzania: A Registry-based Cohort Study. [PDF]

, 2013
Preeclampsia occurs in about 4 per cent of pregnancies worldwide, and may have particularly serious consequences for women in Africa. Studies in western countries have shown that women with preeclampsia in one pregnancy have a substantially increased ...
Lie Rolv T., Obure, Joseph, Obure Joseph, Joseph Obure, Mmbaga, Blandina T, Lie, Rolv T, Mahande Michael J., Masenga Gileard, Masenga, Gileard, Daltveit, Anne K, Mmbaga, Blandina Theophil, Daltveit Anne K., Blandina T Mmbaga, Manongi, Rachel, Manongi Rachel, Rachel Manongi, Lie, Rolv T., Michael J Mahande, Gileard Masenga, Manongi, Rachael, Mahande, Michael Johnson, Anne K Daltveit, Mahande, Michael J, Mmbaga, Blandina T., Daltveit, Anne Kjersti, Rolv T Lie, Mmbaga Blandina T., Lie, Rolv Terje   +27 more
core   +2 more sources

Comprehensive Assessment of Arterial, Tissue, and Venous Collaterals for Evaluating the Infarct Growth Rate: The Multimodal Collateral Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto, Umberto Pensato, Ilaria Casetta, Giorgio U. Marcello, Angelo Barra, Anna Poggesi, Edoardo Carlesi, Sara Mancini, Andrea Ginestroni, Vittorio Miele, Alessandro Padovani, Andrea Morotti, Enrico Fainardi   +12 more
wiley   +1 more source

Characteristics and Neonatal Outcomes of Teenage Pregnant Women Diagnosed with Syphilis at Siriraj Hospital

Siriraj Medical Journal, 2018
Objective: To demonstrate the characteristics of teenage pregnant women diagnosed with syphilis during pregnancy and neonatal outcomes. Methods: This is a retrospective study.
Tachjaree Panchalee, Chenchit Chayachinda, Wanwadee Panyakat, Meng-yu Chen, Vanessa Z. Quinones-Garcia, Pareeda Pernsoongnern   +5 more
doaj  

Quality of Antenatal Care in Rural Tanzania: Counselling on Pregnancy Danger Signs. [PDF]

, 2010
\ud The high rate of antenatal care attendance in sub-Saharan Africa, should facilitate provision of information on signs of potential pregnancy complications.
Pembe, Andrea B,, Carlstedt, Anders,, Carlstedt Anders, Andrea B Pembe, Darj, Elisabeth, Pembe, Andrea Barnabas,, Gunilla Lindmark, Darj Elisabeth, Pembe, Andrea Barnabas, Urassa, David P,, Carlstedt, Anders, Urassa, David P, Nyström Lennarth, Carlstedt, A., Urassa David P, Darj, Elisabeth,, Lindmark, Gunilla, Carlstedt, A,, Lindmark, Gunilla,, Lindmark, G,, Anders Carlstedt, Lindmark, G., Darj, E., Nyström, Lennarth,, Pembe, Andrea B, Lindmark Gunilla, Nyström, Lennarth, Pembe Andrea B, Urassa, David Paradiso, Urassa, D.P., Urassa, David Paradiso,, Pembe, A.B., David P Urassa, Elisabeth Darj, Nyström, L., Nyström, L,, Lennarth Nyström   +36 more
core   +2 more sources

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

The Effects of Passive Smoking on Pregnancy Outcome, Hajar Hospital, Shahrekord

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007
Introduction : Adverse health effects of exposure to environmental tobacco smoke (ETS) among non-smokers have been studied occasionally in developing countries. The aim of this study was to determine the effects of exposure to ETS on outcome in pregnancy
M Delaram
doaj  

Promoting positive adolescent sexual health & preventing teenage pregnancy - a review of recent effectiveness research

, 2004
This review was commissioned by the Crisis Pregnancy Agency to inform their work in the area of prevention of crisis pregnancy. The review commences with a brief description of the current epidemiological data on teenage pregnancy and adolescent ...
Fullerton, Deirdre
core  

Interventions for promoting smoking cessation during pregnancy. [PDF]

, 2009
BACKGROUND: Tobacco smoking in pregnancy remains one of the few preventable factors associated with complications in pregnancy, low birthweight, preterm birth and has serious long-term health implications for women and babies.
Oliver, Sandy, Watson, Lyndsey, Sandy Oliver, Chamberlain, Catherine, Lyndsey Watson, Judith Lumley, Lumley, Judith, Catherine Chamberlain, Laura Oakley, Dowswell, Therese, Therese Dowswell, Oakley, Laura   +11 more
core   +1 more source