Objective: The goal of this study was to determine if congenital human herpesvirus-6 (HHV-6) infection influences early neurodevelopment.
Methods: We enrolled 57 newborns with HHV-6 congenital infection and 242 control newborns without congenital infection into a prospective, double-blind study with 4 visits between 4 and 30 months of age. Assessments included the Fagan Test of Infant Intelligence, the Visual Expectation Paradigm, and the Mental Development Index (MDI) of the Bayley Scales of Infant Development II. Newborn audiology screening and follow-up audiology examinations were completed at 12 to 24 months.
Results: No differences were noted in baseline characteristics between infants with HHV-6 congenital infection and control infants. No clinical syndrome due to congenital infection with HHV-6 was evident at birth. No differences were identified on the Fagan Test of Infant Intelligence or the Visual Expectation Paradigm between the two groups. In 39 infants with HHV-6 congenital infection, the mean ± SD Bayley Scale of Infant Development II MDI score was 103.4 ± 8.9 at 12 months of age. The matched control infants had a mean score of 105.4 ± 12.4. After controlling for covariates, HHV-6 congenital infection was associated with lower scores on the Bayley Scale of Infant Development II MDI at 12 months of age (mean difference: 4.3 [95% confidence interval: 0.4 to 8.1]; P = .03) compared with infants without HHV-6 congenital infection.
Conclusions: Congenital HHV-6 infection may have a detrimental effect on neurodevelopment at 12 months of age and requires further study given that congenital infection with HHV-6 is present in ∼1 in every 101 births.
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http://dx.doi.org/10.1542/peds.2014-0886 | DOI Listing |
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Radiology and Imaging, Grande International Hospital, Kathmandu, Nepal.
Kartagener syndrome is a rare ciliopathic genetic disorder characterized by a triad of chronic sinusitis, situs inversus, and bronchiectasis. The underlying pathophysiology involves reduced ciliary motility due to defects in ciliary structure and function within the respiratory tract and fallopian tubes. Diagnosis is typically confirmed through imaging studies such as X-rays, CT scans, and echocardiograms, which reveal the abnormal orientation of the heart and other organs.
View Article and Find Full Text PDFHum Reprod Open
January 2025
Regional Center of Pharmacovigilance, Pharmacology Department, Cochin Hospital, AP-HP.Centre-Université Paris Cité, Paris, France.
Study Question: Is there an association between dydrogesterone exposure during early pregnancy and the reporting of birth defects?
Summary Answer: This observational analysis based on global safety data showed an increased reporting of birth defects, mainly hypospadias and congenital heart defects (CHD), in pregnancies exposed to dydrogesterone, especially when comparing to progesterone.
What Is Known Already: Intravaginal administration of progesterone is the standard of care to overcome luteal phase progesterone deficiency induced by ovarian stimulation in ART. In recent years, randomized controlled clinical trials demonstrated that oral dydrogesterone was non-inferior for pregnancy rate at 12 weeks of gestation and could be an alternative to micronized vaginal progesterone.
mBio
January 2025
Department of Microbiology and Molecular Genetics, University of California, Davis, California, USA.
Orthoflaviviruses are positive-sense single-stranded RNA viruses that hijack host proteins to promote their own replication. Zika virus (ZIKV) is infamous among orthoflaviviruses for its association with severe congenital birth defects, notably microcephaly. We previously mapped ZIKV-host protein interactions and identified the interaction between ZIKV non-structural protein 4A (NS4A) and host microcephaly protein ankyrin repeat and LEM domain-containing 2 (ANKLE2).
View Article and Find Full Text PDFUnlabelled: Zika virus (ZIKV) infection can lead to a variety of clinical outcomes, including severe congenital abnormalities. The phosphatidylserine (PS) receptors AXL and TIM-1 are recognized as critical entry factors for ZIKV . However, it remains unclear if and how ZIKV regulates these receptors during infection.
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