Results 51 to 60 of about 22,740 (195)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Association between suspected Zika virus disease during pregnancy and giving birth to a newborn with congenital microcephaly: a matched case–control study

BMC Research Notes, 2017
Objective In early 2015, an outbreak of an acute exanthematous illness with dengue-like symptoms occurred in northeastern Brazil. By the end of the same year, an unexpected increase in the number of cases of microcephaly was observed in the region.
Ticiane Henriques Santa Rita, Renata Barcelos Barra, Gisele Pasquali Peixoto, Pedro Goes Mesquita, Gustavo Barcelos Barra   +4 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 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

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 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  

Congenital Genetic Microcephaly: Clinical Diagnostic Approach [PDF]

Journal of Pediatric Neurology, 2019
AbstractMicrocephaly is an important neurological sign defined by a cranial circumference < 2 standard deviations or < 3 standard deviations in the severe form compared with age- and gender-matched children. Microcephaly is classified as congenital (prenatal) and postnatal. In general, microcephaly may result from an insult, including infections,
Marino, Silvia, Pavone, Piero, Marino, Lidia, Rapisarda, Filippo Andrea Salvatore, Falsaperla, Raffaele   +4 more
openaire   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source