Results 51 to 60 of about 9,801 (180)

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

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

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, Sayoni Roy Chowdhury, Lindsey Vogt, Jolynn Dickson, Karen Owusu, Pradeep Krishnan, Suvasini Sharma, Liali Aljouda, Reena Pabari, Grace Yoon, Carolina Gorodetsky   +12 more
wiley   +1 more source

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

Seroprevalence of rubella and immunogenicity following rubella vaccination in adolescent girls in India

Journal of Infection in Developing Countries, 2011
Introduction: Serologic surveys conducted in different countries indicate that rubella is a worldwide infection. Several such sero surveys conducted in India have also confirmed that 6-47% of women are susceptible to rubella infection. The current study
Hitt J Sharma, Vasant S Padbidri, Subhash V Kapre, Suresh S Jadhav, Rajeev M Dhere, Sameer S Parekh, Ashok D Dudhane, Sunil D Shewale, Gajanan S Namjoshi   +8 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

POLYMERASE CHAIN REACTION AND SEROLOGY TEST TO DETECT RUBELLA VIRUS IN CONGENITAL RUBELLA SYNDROME PATIENTS WITH HEARING LOSS

Indonesian Journal of Tropical and Infectious Disease, 2020
Rubella infections in pregnant women, especially during the first trimester, often lead to manifest as congenital rubella syndrome (CRS). This syndrome consists of several inherited disorders such as deafness, cataracts, and cardiac abnormalities ...
Sabrina Izzattisselim, Nyilo Purnami
doaj   +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

Using the two-source capture–recapture method to estimate the incidence and case ascertainment of congenital rubella syndrome in Australia, 1993–2013

Western Pacific Surveillance and Response, 2016
To verify rubella and congenital rubella syndrome (CRS) elimination, countries need to ensure that their surveillance systems are sufficiently sensitive to capture almost all cases.
Nicolee Martin, David Durrheim, Gulam Khandaker, Michelle Butler, Cheryl Jones   +4 more
doaj   +1 more source