Results 41 to 50 of about 1,460,809 (224)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Congenital rubella syndrome and its postoperative visual outcome: A prospective longitudinal study in a tertiary care hospital in eastern India

Indian Journal of Health Sciences and Biomedical Research KLEU, 2022
BACKGROUND: Congenital rubella syndrome is a threatening consequence of rubella infection in pregnancy characterized by the triad of cardiac, ocular & hearing defects.
Smiti Rani Srivastava, Jayeeta Mazumder, Mahesh Chattopadhyay   +2 more
doaj   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Neonatal Assessment Visual European Grid accuracy in detecting infants born preterm at risk of neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
NAVEG: a screening tool for detecting preterm newborn at risk of neurolocal impairment, key findings and diagnostic accuracy. Abstract Aim To analyse the factorial structure of the Neonatal Assessment Visual European Grid (NAVEG), its diagnostic accuracy, the discriminative capacity of its individual items, and total score in detecting infants born ...
Elisa Fazzi, Laura Malerba, Jessica Galli, Salvatore Aversa, Lotfi B. Merabet, Francesco Risso, Andrea Rossi, NAVEG Group, Patrizia Accorsi, Anna Alessandrini, Sabina Bettelli, Nicole D'adda, Erika Loi, Michela Gritti, Paola Martelli, Paola Mattei, Giuseppe Nascimbeni, Federica Tansini, Francesco Semeraro, Vania Spinoni, Serena Micheletti, Giulia Balboni   +21 more
wiley   +1 more source

Identifying the population susceptible to rubella in Japan, 2020: Fine-scale risk mapping

Journal of Infection and Public Health
Background: Rubella remains a public health challenge in Japan, impeding the attainment of herd immunity. Despite vaccination efforts since 1976, persistent outbreaks reveal a susceptibility gap in male adults born before 1995.
Ryo Kinoshita, Satoru Arai, Motoi Suzuki, Hiroshi Nishiura   +3 more
doaj   +1 more source

Cutaneous lymphomas – an update

Histopathology, EarlyView.
Primary cutaneous lymphomas and lymphoproliferative disorders are defined by integrated clinical, histopathological, immunophenotypic and genetic features as diagnostic criteria also in the 5th edition of the WHO classification of haematolymphoid tumors.
Werner Kempf, Christina Mitteldorf
wiley   +1 more source

Congenital Rubella Syndrome: It Still Exists in India [PDF]

Journal of Clinical and Diagnostic Research, 2012
We report here a case of congenital rubella syndrome in a child who presented with hearing loss, patent ductus arteriosus and coloboma of the eye. The child was evaluated and rehabilitated using high gain hearing aid.
Satheesh K. Bhandary, M. Shwetha Shenoy, Vadisha Srinivas Bhat, Biniyam K., Vijaya Shenoy   +4 more
doaj  

Changes in the Epidemiology of Rubella: The Influence of Vaccine-Introducing Methods and COVID-19

Vaccines, 2023
Rubella is an infectious disease caused by the rubella virus. Congenital rubella syndrome is a risk for all newborns if pregnant women are infected with rubella, raising an important public health issue.
Naruhito Otani, Masayuki Shima, Takashi Ueda, Kazuhiko Nakajima, Yoshio Takesue, Takuma Yamamoto, Toshiomi Okuno   +6 more
doaj   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Reported Factors Associated With Hearing Loss in Infants Admitted to Neonatal Intensive Care Units: A Scoping Review of the Evidence and Its Limitations

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Hearing loss (HL) is far more common in neonatal intensive care unit (NICU) graduates than in well‐baby populations. Although many broadly defined ‘risk factors’ have been reported, their causal relevance remains unclear. Objectives We conducted a scoping review to synthesise reported factors for HL among NICU and special care ...
Jinzi Bai, Preethi Chandrasekaran, Daisy Shepherd, Melissa Wake, Valerie Sung, Jing Wang   +5 more
wiley   +1 more source