Results 141 to 150 of about 252,619 (276)

The Global Burden of Cholesteatoma: A Systematic Review and Meta‐analysis

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective This systematic review and meta‐analysis sought to estimate the global and World Health Organization (WHO) regional prevalence and burden of cholesteatoma. Data Sources PubMed, APA PsycINFO, the Cochrane Library, Embase, and WHO International Clinical Trials Registry Platform (ICTRP) from 2010 to 2025.
Herbert Melariri   +21 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +1 more source

Functional outcomes of childhood selective dorsal rhizotomy 20 to 28 years later [PDF]

open access: yes, 2017
Dobbs, Matthew B   +4 more
core   +2 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

Early detection of cerebral palsy among a high-risk cohort in Bangladesh. [PDF]

open access: yesBMJ Paediatr Open
Karim T   +11 more
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

YouTube as a Source of Patient Information for Cerebral Palsy. [PDF]

open access: yesHealthcare (Basel)
Stelmach J   +3 more
europepmc   +1 more source

113. Stereotaxic Surgery of the Fastigial Nucleus as Treatment of Cerebral Spastic Palsies

open access: bronze, 1962
H. Takebayashi   +5 more
openalex   +2 more sources

“I'd rather be in pain than be patronized.” A qualitative study of health care experiences of persons with disabilities

open access: yesPM&R, EarlyView.
Abstract Background Prior research shows that persons with disabilities (PWD) frequently receive inadequate health care and that physicians are uncomfortable caring for patients with disabilities, both of which may be attributed to the lack of disability education in medical training.
Jessica A. Prokup   +5 more
wiley   +1 more source

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