Results 121 to 130 of about 208,758 (293)
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal 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
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source
Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models
Pediatric Discovery, EarlyView.ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou +3 more
wiley +1 more source
Promising Practices: Rhode Island Deafness Access Initiative: A Joint Effort of Rhode Island\u27s PABSS and BPA&O Projects [PDF]
, 2006 The Rhode Island Benefits Planning Assistance and Outreach (BPA&O) project has identified a pervasive access issue facing the state’s deaf and hard of hearing community. In partnership, the Rhode Island Protection and Advocacy for Beneficiaries of Social
Cebula, Raymond A, III
core +1 more source
Beam-searching and Transmission Scheduling in Millimeter Wave Communications
, 2015 Millimeter wave (mmW) wireless networks are capable to support multi-gigabit data rates, by using directional communications with narrow beams. However, existing mmW communications standards are hindered by two problems: deafness and single link ...
Fischione, Carlo +2 more
core +1 more source
Types of Struggles in Disrupted Interaction: A Case of Hard‐of‐Hearing Employees
Symbolic Interaction, EarlyView.Everyone experiences disrupted interactions in their everyday life. However, research indicates that people with functional impairments are particularly exposed to patterns of interactional inequality at work. Despite this, little is known about the specific disrupted interactions in everyday life and the various types of interactional struggles this ...
Ida Friis Thing
wiley +1 more source
Attending to Disability in TESOL: A Case of Patterned Inequities
TESOL Quarterly, EarlyView.Abstract This article in the special issue commemorating TESOL Quarterly's anniversary documents that scholarship in the intersection of TESOL and disability is a relatively newer phenomenon. It draws on scholarship from TESOL Quarterly and the field more broadly to illuminate how research, although emergent, points to an alarming trend: that ...
Sara E.N. Kangas
wiley +1 more source
Improved Bone Conduction and Hearing Outcomes After Stapes Surgery for Otosclerosis
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Objective To evaluate the improvement in bone conduction (BC) thresholds after stapes surgery for otosclerosis, compare the outcomes of surgical techniques, and analyze the short‐ and long‐term results to inform treatment strategies. Methods We retrospectively reviewed data from 173 patients (188 ears) who underwent total stapedectomy, partial
Na Zhang +6 more
wiley +1 more source