Background: Rubella and congenital rubella syndrome remain a problem in the United States; institutionalized individuals are at higher risk. We assessed demographic variables and rubella serology in a population of institutionalized adults with mental retardation.
Methods: Subjects were 181 institutionalized adults with mental retardation. We reviewed charts to determine patient's age, sex, race, and fertility status (if female), cause of mental retardation, and rubella history. Serologic testing to determine rubella immunity was done.
Results: We found that 26.4% of subjects were nonimmune. Sex, cause of mental retardation, and history of rubella vaccination were not related to serologic immunity status. Of the 29 fertile female subjects, 8 (27.6%) were nonimmune to rubella.
Conclusion: Subjects with unknown immunization status had a similar serologic profile to those whose medical records indicated immunization. Neither history of infection nor immunization was predictive of serology status.
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http://dx.doi.org/10.1097/00007611-199809000-00007 | DOI Listing |
Medicine (Baltimore)
January 2025
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
Paediatr Drugs
January 2025
Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.
Oral ganaxolone (ZTALMY), a synthetic analogue of the endogenous neuroactive steroid allopregnanolone, acts as a positive allosteric modulator of synaptic and extra-synaptic γ-aminobutyric acid (GABA) type A receptor function in the CNS. In the EU and the UK, it is approved for the adjunctive treatment of epileptic seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged 2-17 years. In a multinational phase III study (Marigold), 17 weeks' therapy with adjunctive ganaxolone, administered orally three times daily with food, significantly reduced 28-day major motor seizure frequency from baseline versus placebo in patients aged 2-19 years with CDD-associated refractory epilepsy.
View Article and Find Full Text PDFACS Chem Neurosci
January 2025
Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HITMER), Bahçeşehir University, 34734 İstanbul, Türkiye.
is implicated in a range of conditions, including autism spectrum disorder, intellectual disability, seizures, autosomal recessive nonsyndromic intellectual disability, heterotaxy, and ciliary dysfunction. In order to understand the molecular mechanisms underlying these conditions, we focused on the structural and dynamic activity consequences of mutations within this gene. In this study, whole exome sequencing identified the c.
View Article and Find Full Text PDFCureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFPrevention of sexual assault in intellectual disability (ID) begins with defining the problem. There are identified risk factors and barriers faced by adults with ID who experience sexual assault. Research shows that individuals with ID are victimized by sexual assault at rates substantially higher than the general population.
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