Results 41 to 50 of about 275,656 (261)

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

Association of newborn diseases with weight/length ratio and the adequacy of weight for gestational age [PDF]

Einstein (São Paulo), 2011
Objective: To compare the frequencies of newborn diseases in those newborns classified according to a weight/length rate and those classified by the adequacy weight for gestational age. Methods: A retrospective cross-sectional study by record assessment
José Ricardo Dias Bertagnon, Marcos da Cruz Rocha, Gabriela Alba Kuraim, Rosângela Guidara, Neil Ferreira Novo   +4 more
doaj   +3 more sources

Consistent cord blood DNA methylation signatures of gestational age between South Asian and white European cohorts

Clinical Epigenetics
Background Epigenetic modifications, particularly DNA methylation (DNAm) in cord blood, are an important biological marker of how external exposures during gestation can influence the in-utero environment and subsequent offspring development. Despite the
Wei Q. Deng, Marie Pigeyre, Sandi M. Azab, Samantha L. Wilson, Natalie Campbell, Nathan Cawte, Katherine M. Morrison, Stephanie A. Atkinson, Padmaja Subbarao, Stuart E. Turvey, Theo J. Moraes, Piush Mandhane, Meghan B. Azad, Elinor Simons, Guillaume Pare, Sonia S. Anand   +15 more
doaj   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 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

Comparative Study of Cord Lipid Profile in Small for Gestational Age and Appropriate for Gestational Age Newborn [PDF]

Iranian Journal of Neonatology, 2017
Background: This study was conducted to compare the cord blood lipid profile in term small for gestation (SGA) and appropriate for gestational age (AGA) babies as determination of cord blood lipid profile is useful screening tool for early detection of ...
Sunita Arora, Shifali Gupta, Pushpjeet Sheemar   +2 more
doaj   +1 more source

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

Resolving Heterogeneity of Targeted Lipid Nanoparticles Through Solution‐Based Biophysical Analyses

Advanced Materials, EarlyView.
AF4‐UV‐DLS‐MALS‐SAXS resolves previously inaccessible targeted lipid nanoparticle (tLNP) subpopulations that differ in size, shape, and composition. Correlation of subpopulation‐resolved biophysical properties with in vivo RNA delivery reveals that targeted placental transfection is associated with distinct tLNP subpopulations rather than ensemble ...
Hannah C. Geisler, Hannah C. Safford, Ajay S. Thatte, Marshall S. Padilla, Elisa Battistini, Hannah M. Yamagata, Violet M. Ullman, Alex Chan, Benjamin E. Nachod, Anushka Agrawal, Maxwell B. Watkins, Jesse B. Hopkins, Andrew Tsourkas, Kushol Gupta, Michael J. Mitchell   +14 more
wiley   +1 more source

COMPARISON OF PLGF LEVELS, AMONG SMALL FOR GESTATIONAL AGE AND APPROPRIATE FOR GESTATIONAL AGE MOTHERS

Pakistan Armed Forces Medical Journal
Objective. Early detection of small for gestational age fetuses can prevent infant morbidity and mortality. The objective of this study was to compare the levels of Placental Growth Factor among small for gestational age with appropriate for gestational
Maryum Imran, Mudassar Sajjad, Talat Shahzad   +2 more
doaj   +1 more source