Results 121 to 130 of about 166,190 (339)

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Digging into the Role of Inflammatory Biomarkers in Sudden Sensorineural Hearing Loss Diagnosis and Prognosis: A Systematic Review and Meta-Analysis [PDF]

, 2022
Andrea Frosolini, Leonardo Franz, Antonio Daloiso, Andrea Lovato, Cosimo de Filippis, Gino Marioni   +5 more
openalex   +1 more source

The Postnatal outcomES of Fetal Cortical mAlformations (PESCA) Study: A Multicentre Historical Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To provide further evidence on the outcomes associated with fetal malformations of cortical development (MCD), currently informed by data from symptomatic paediatric cohorts, this study provides a new classification system. Design Multicentre retrospective cohort study.
Natalia Abadia‐Cuchi, Francesca Felici, Sophie Arulkumaran, Faraan Khan, Paolo Frassanito, Andrea Dall'Asta, Elvira di Pasquo, Elisa Bevilacqua, Amarnath Bhide, Tullio Ghi, Matia Martucci, Simona Gaudino, Basky Thilaganathan, Alessandra Familiari   +13 more
wiley   +1 more source

Genetic background in late-onset sensorineural hearing loss patients [PDF]

, 2021
Natsumi Uehara, Takeshi Fujita, Daisuke Yamashita, Jun Yokoi, Sayaka Katsunuma, Akinobu Kakigi, Shin‐ya Nishio, Ken‐ichi Nibu, Shin‐ichi Usami   +8 more
openalex   +1 more source

Universal Cytomegalovirus Screening in the First Trimester of Pregnancy: The Multicentre Observational Cohort Study in the Area of Barcelona (CITEMB Study)

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To determine the CMV seroprevalence among pregnant women and assess the rate of primary CMV infections during the first trimester. Design Prospective multicentre observational cohort study. Setting Four primary care centres (ASSIRs) and two tertiary hospitals in Barcelona and its metropolitan area. Pupulation or Sample Pregnant women
María Ángeles Sánchez‐Durán, Juliana Esperalba, Elena Scazzocchio, Irene Fernández‐Torm, Eva Vázquez‐Segura, Olga Gracia‐Salazar, Marta Calveiro‐Hermo, Jordina Munrós‐Feliu, Astrid Francesch‐Campi, Laia Alcoverro‐Bedos, Aleida Ribas‐Tristany, Cristina del Viso‐Lajara, Julia Mitjans‐Carrasco, Mercedes Guerrero‐Martínez, Gema Fernández‐Rivas, Aneta Monika Zientalska, Liudmila Liutsko, Gemma Falguera‐Puig, Cristina Martínez‐Bueno, Nerea Maiz, Roser Gol, the CITEMB group   +21 more
wiley   +1 more source

Barakat syndrome presenting as isolated sensorineural hearing loss

Otolaryngology Case Reports
Barakat syndrome is a rare autosomal dominant disease caused by haplo-insufficiency of transcription factor GATA3 on chromosome 10p14. It is characterized by a triad of hypoparathyroidism, sensorineural hearing loss, and renal disease with high ...
Angela S. Zhu, Danielle Reny Larrow, Michael S. Cohen   +2 more
doaj   +1 more source

Spectral shaping options for persons with low- or high-frequency sensorineural hearing loss [PDF]

, 1987
Donald J. Schum, M. J. Collins
openalex   +1 more source

Slower Pace of Intellectual Development Is Common in Children With Cerebral Palsy–A Population‐Based Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To describe the intellectual level and changes during development in children with cerebral palsy (CP) and to investigate if there are factors associated with the pace of intellectual development. Method Population‐based study of all 264 children (141 boys, 123 girls) with CP born 1999–2006 in the region of Västra Götaland. Information was
Mattias Wicke Selvén, Kate Himmelmann, Magnus Påhlman   +2 more
wiley   +1 more source

Cochlear Implantation after Kidney Transplantation

International Journal of Organ Transplantation Medicine, 2012
Patients with chronic renal failure may develop sensorineural hearing loss. Cochlear implantation has rarely done after organ transplantation. Herein, we report on a 33-year-old kidney transplantation recipient who underwent cochlear implantation for her
B Hasehmi, H Bahrani Fard, Z Zandifra
doaj  

Pediatric Sensorineural Hearing Loss [PDF]

Ear, Nose & Throat Journal, 2014
openaire   +2 more sources