Results 141 to 150 of about 107,401 (218)

Factors Associated with the Chance of Carrying out a Primary Cesarean in a University Hospital. [PDF]

open access: yesRev Bras Ginecol Obstet, 2022
Wender MCO   +6 more
europepmc   +1 more source

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

open access: yesMovement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila   +11 more
wiley   +1 more source

Real-life experience with inotersen at CEPARM, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro. [PDF]

open access: yesArq Neuropsiquiatr
Dias M   +9 more
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

open access: yesMovement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard   +33 more
wiley   +1 more source

Tailored Mandibular Advancement Therapy Guided Through a Mandibular Positioner: Predictive Value in Obstructive Sleep Apnea

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Mandibular advancement devices (MADs) are a recognized alternative to continuous positive airway pressure (CPAP) for treating obstructive sleep apnea (OSA), though patient selection is still challenging. Tailored MAD guided through drug induced sleep endoscopy (DISE) with a mandibular titratable positioner (SAM) offers a stable and ...
Patricia Fernández‐Sanjuán   +11 more
wiley   +1 more source

Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy—A Narrative Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Mirror syndrome is a rare maternal–fetal condition associated with fetal hydrops and a high risk of adverse maternal and fetal perinatal outcomes. Its diagnosis is challenging due to the lack of standardized diagnostic criteria and its clinical and biochemical overlap with preeclampsia.
Riccardo Tudisco   +5 more
wiley   +1 more source

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