Results 171 to 180 of about 3,980,474 (306)

Temporal Trends in Pregnancy Rate, Live Birth Rates, and Rates of Gestational Outcomes, 2012-2023. [PDF]

open access: yesO G Open
Bane S   +8 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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   +21 more
wiley   +1 more source

Consistent Reports of Pregnancy/Birth Contexts and Links to Parental Experiences. [PDF]

open access: yesPopul Res Policy Rev
Guzzo KB   +5 more
europepmc   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesEbelik ve Sağlık Bilimleri Dergisi
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]

open access: yesAust N Z J Obstet Gynaecol
Corbett GA   +12 more
europepmc   +1 more source

Preferences for Posttraumatic Osteoarthritis Prevention Strategies in Individuals With Anterior Cruciate Ligament Injury

open access: yesArthritis Care &Research, EarlyView.
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]

open access: yesNAR Genom Bioinform
Li R   +7 more
europepmc   +1 more source

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