RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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 +21 more
wiley +1 more source
The objective of this study is to understand the relationships between prepregnancy obesity and excessive gestational weight gain (GWG) and adverse maternal and fetal outcomes.
Nancy Baugh +4 more
doaj +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Appropriate infant feeding practices result in better growth of infants and young children in rural Bangladesh. [PDF]
BACKGROUND: The World Health Organization and the United Nations International Children's Emergency Fund recommend a global strategy for feeding infants and young children for proper nutrition and health.
Alam, Dewan S +5 more
core +1 more source
Objectives 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 +6 more
wiley +1 more source
ANALISIS JALUR (PATH ANALYSIS) UNTUK MENGETAHUI HUBUNGAN ANTARA USIA IBU, KADAR HEMOGLOBIN, DAN MASA GESTASI TERHADAP BERAT BAYI LAHIR (Studi Kasus di Rumah Sakit Aisyiyah Kudus) [PDF]
Birth weight is the weight of a baby who weighed in 1 (one) hour after birth. Birth weight is important to note because many cases are caused by birth weight that is too high or too low as in the case of LBW (Low Birth Weight).
HANDANINGRUM, EVI YULIA
core
Assembly of Cell‐Seeded 3D Printed Hydrogel Modules with Perfusable Channel Networks
Macroscale assembly was utilized to prepare perfusable tissue constructs from individually 3D printed hydrogel modules with embedded branched channel networks and port arrays for cell seeding. Novel multi‐material bioreactors were fabricated to facilitate the gluing of individual modules and the perfusion culture of assembled modular constructs seeded ...
Zachary J. Geffert +10 more
wiley +1 more source
Fetal and infant origins of asthma [PDF]
Previous studies have suggested that asthma, like other common diseases, has at least part of its origin early in life. Low birth weight has been shown to be associated with increased risks of asthma, chronic obstructive airway disease, and impaired lung
Duijts, Liesbeth
core +3 more sources
The Future of Research in Cognitive Robotics: Foundation Models or Developmental Cognitive Models?
Research in cognitive robotics founded on principles of developmental psychology and enactive cognitive science would yield what we seek in autonomous robots: the ability to perceive its environment, learn from experience, anticipate the outcome of events, act to pursue goals, and adapt to changing circumstances without resorting to training with ...
David Vernon
wiley +1 more source
Some Effective Factors in Low – Birth – Weight in Hamadan City, Iran
A survey with a sample of 460 was carried out to estimate the prevalence of low-birth-weight in Hamadan city, Iran. The results show that the prevalence of the low-birth-weight is 10% Statistical tests indicate that factors such as twin or more, mother ...
Hosein Mahjud +2 more
doaj

