Temporal Trends in Pregnancy Rate, Live Birth Rates, and Rates of Gestational Outcomes, 2012-2023. [PDF]
Bane S +8 more
europepmc +1 more source
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
Consistent Reports of Pregnancy/Birth Contexts and Links to Parental Experiences. [PDF]
Guzzo KB +5 more
europepmc +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
Could Ultrasonographic Measurements of the Umbilical Cord be a Predictor of Birth Weight? A Health Facility-Based Cross-Sectional Study. [PDF]
Suraka SA +4 more
europepmc +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
The Couples’ Birth Experiences and Influencing Factors
Objective: The birth experience profoundly changes couples’ lives. The husband's role in the birth experience is to provide emotional and physical support to his wife. However, complex emotions can be experienced in the first births due to uncertainties.
Fadime Bayri Bingol +1 more
doaj
Research on Preterm Birth Prevention: The Participant Experience. [PDF]
Corbett GA +12 more
europepmc +1 more source
Objective There is growing interest in evaluating new strategies to delay or prevent posttraumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury. Methods Participants with a history of
Kevin Kennedy +9 more
wiley +1 more source
A birth certificate for data to improve findability, accountability, and traceability. [PDF]
Li R +7 more
europepmc +1 more source

