Results 41 to 50 of about 22,198 (205)

Association of arthrogryposis in neonates with microcephaly due to Zika virus - a case serie

Revista Brasileira de Saúde Materno Infantil
Introduction: in 2015 an increasing number of congenital microcephaly cases were associated to maternal infection due to Zika virus. Some of these patients presented other alterations and arthrogryposis was the most frequently found.
Ana Catarina Matos Ishigami Alvino, Luísa Rocha Medeiros de Mello, Jucille do Amaral Meneses Meira de Oliveira   +2 more
doaj   +1 more source

Dysregulation of Ephrin receptor and PPAR signaling pathways in neural progenitor cells infected by Zika virus

Emerging Microbes and Infections, 2020
Zika virus (ZIKV) infection is a serious public threat with cases reported in about 70 countries and territories. One of the most serious consequences of ZIKV infection is congenital microcephaly in babies.
Sathya N. Thulasi Raman, Elyse Latreille, Jun Gao, Wanyue Zhang, Jianguo Wu, Marsha S. Russell, Lisa Walrond, Terry Cyr, Jessie R. Lavoie, David Safronetz, Jingxin Cao, Simon Sauve, Aaron Farnsworth, Wangxue Chen, Pei-Yong Shi, Youchun Wang, Lisheng Wang, Michael Rosu-Myles, Xuguang Li   +18 more
doaj   +1 more source

Congenital microcephaly: A diagnostic challenge during Zika epidemics

Travel Medicine and Infectious Disease, 2018
The multiple, wide and diverse etiologies of congenital microcephaly are complex and multifactorial. Recent advances in genetic testing have improved understanding of novel genetic causes of congenital microcephaly. The recent Zika virus (ZIKV) epidemic in Latin America has highlighted the need for a better understanding of the underlying pathological ...
Jorge L, Alvarado-Socarras, Álvaro J, Idrovo, Gustavo A, Contreras-García, Alfonso J, Rodriguez-Morales, Tobey A, Audcent, Adriana C, Mogollon-Mendoza, Alberto, Paniz-Mondolfi   +6 more
openaire   +2 more sources

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Neurological, Radiological, Visual, and Auditory Findings in Children with Intrauterine Exposure to the Zika Virus

Viruses
This study aims to describe neurological, visual, and auditory findings in children whose mothers had confirmed Zika virus (ZIKV) infection during pregnancy, with most of these children not presenting congenital microcephaly; Methods: an observational ...
Marlos Melo Martins, Andréa Bittencourt Guastavino, Maria Clara de Magalhães-Barbosa, Maria Helena de Magalhães-Barbosa, Cristiane Fregonesi Dutra Garcia, Bárbara Karine Gonet Amaral, Annamaria Ciminelli Barbosa, Halina Cidrini Ferreira, Jaqueline Rodrigues Robaina, Mariana Barros Genuino de Oliveira, Fernanda Freire Tovar-Moll, Roberto de Andrade Medronho, Antonio José Ledo Alves da Cunha, Joffre Amim, Arnaldo Prata-Barbosa   +14 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Epidemiological profile of 39 cases of microcephaly caused by congenital infections diagnosed in the state of Rio Grande do Sul between 2015-2017

Clinical and Biomedical Research, 2019
Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn (NB), which may be visible even ...
Luciana Friedrich, Silvani Herber, Anna Pires Terra, André Anjos da Silva, Maria Teresa Viera Sanseverino, Lucas Rosa Fraga, Fernanda Sales Luiz Vianna, Ida Vanessa Doederlein Schwartz, Lavínia Schuler-Faccini   +8 more
doaj