Results 51 to 60 of about 19,660 (221)

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Congenital hearing loss in Malta : a survey [PDF]

, 1990
The congenitally deaf infant who acquires deafness prior to development of language present special problems when compared to other hearing impaired individuals.
Degiorgio, Raymond, Fenech, Anthony G., Pace Balzan, Jacqueline, Saliba, F.   +3 more
core  

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

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

Antenatal Bartter Syndrome as a Rare Cause of Severe Polyhydramnios: A Case Report and Review of the Literature

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Severe polyhydramnios occurs in 1%–2% of pregnancies and may be associated with maternal diabetes, fetal structural anomalies, genetic disorders, or remain idiopathic. Among the rare etiologies is Bartter syndrome, a renal tubular defect causing impaired salt reabsorption.
Fatemeh Shariati nia, Atefe Hashemi, Shaghayegh Moradi Alamdarloo, Maryam Kasraeian, Dorna Derakhshan, Hamide Barzegar   +5 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

Stepping Beyond the Smith Plaintiffs‘ Reliance on Corso: An Alternative Approach to Recovering Emotional-Distress Damages in Wrongful-Birth Cases in New Hampshire [PDF]

, 2009
[Excerpt] “More than twenty years ago, in Smith v. Cote, the New Hampshire Supreme Court held “that New Hampshire recognizes a cause of action for wrongful birth.” After so holding, the court then discussed the damages available to a prevailing wrongful ...
Potter, Parker B., Jr.
core   +1 more source

Diagnostic Dilemma in an Infant With Sound‐Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle—A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Auditory‐triggered motor events in infancy present a significant diagnostic challenge due to overlap between epileptic and non‐epileptic startle phenomena. We report the case of a term female infant with neonatal‐onset seizures and subsequent development of reproducible sound‐triggered jerky movements, raising diagnostic uncertainty between ...
Aakash Pandit, Melisha Koirala, Anil Shahi, Anupama Sharma, Aashish Panta, Shuvra Rimal   +5 more
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  

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre

International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.
Children with congenital Zika syndrome followed at a neurorehabilitation centre demonstrated severe neurological impairment characterized by microcephaly, cortical malformations, intracranial calcifications and multifocal epileptiform activity. Integrated clinical, neuroimaging and video‐electroencephalographic (EEG) findings highlight the extensive ...
Adilina Soares Romeiro Rodrigues, Pedro Ykaro Fialho Silva, Ramiro Pinheiro Rodrigues, Kylvia Giselle Fernandes Dantas Pinho, Sthefani da Costa Penha, Álvaro Jorge Madeiro Leite   +5 more
wiley   +1 more source