Recurrent maternal CMV infection associated with symptomatic congenital infection: results from a questionnaire study in Portugal [PDF]
Objective Human cytomegalovirus (CMV) is the most widespread agent of congenital infection in humans and is still a challenging issue. Despite lower rates of vertical transmission being associated with recurrent infection when compared with primary ...
Paulo Paixão+3 more
doaj +2 more sources
A fifty-year odyssey: prospects for a cytomegalovirus vaccine in transplant and congenital infection [PDF]
Introduction: It has been almost fifty years since the Towne strain was used by Plotkin and collaborators as the first vaccine candidate for cytomegalovirus (CMV).
Don Jeffrey Diamond+8 more
doaj +2 more sources
Discrepancies in the Diagnosis of Congenital Toxoplasma gondii Infection Between B1 Gene Semi-Nested Polymerase Chain Reaction and Serological Analyses [PDF]
Congenital Toxoplasma gondii (T. gondii) infection, which can be caused by a primary T. gondii infection during pregnancy, results in severe neurological sequelae in affected children. We have been conducting a prospective cohort study since January 2019
Akiko Uchida+8 more
doaj +2 more sources
An immunocompetent mouse model revealed that congenital Zika virus infection disrupted hippocampal function by activating autophagy [PDF]
Congenital Zika virus (ZIKV) infection significantly affects neurological development in infants and subsequently induces neurodevelopmental abnormality symptoms; however, the potential mechanism is still unknown.
Wei Yang+9 more
doaj +2 more sources
Does visual experience influence arm proprioception and its lateralization? Evidence from passive matching performance in congenitally-blind and sighted adults [PDF]
In humans, body segments' position and movement can be estimated from multiple senses such as vision and proprioception. It has been suggested that vision and proprioception can influence each other and that upper-limb proprioception is asymmetrical, with proprioception of the non-dominant arm being more accurate and/or precise than proprioception of ...
arxiv +1 more source
Romiplostim use in pregnant women with immune thrombocytopenia
Abstract Treatment for immune thrombocytopenia (ITP) in pregnancy is hampered by the lack of fetal safety evidence of maternally‐administered medications. The Pregnancy Surveillance Program (PSP) collected patient information from 2017–2020 for pregnancy, birth outcomes, and adverse events (AEs) for 186 women exposed to romiplostim from 20 days before ...
James B. Bussel+7 more
wiley +1 more source
Bruton tyrosine kinase inhibitors in the management of Waldenström macroglobulinemia
Abstract Bruton tyrosine kinase (BTK) inhibitors have taken a central role in the management of patients with Waldenström macroglobulinemia and are the only agents approved by the Food and Drug Administration (FDA) to treat these patients. Although associated with high rates of durable responses, unmet needs with BTK inhibitor therapy include ...
Jorge J. Castillo+4 more
wiley +1 more source
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani+10 more
wiley +1 more source
Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang+5 more
wiley +1 more source
Auditory cortex and beyond: Deficits in congenital amusia [PDF]
Congenital amusia is a neuro-developmental disorder of music perception and production, with the observed deficits contrasting with the sophisticated music processing reported for the general population. Musical deficits within amusia have been hypothesized to arise from altered pitch processing, with impairments in pitch discrimination and, notably ...
arxiv +1 more source