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Hygienic behaviors and use of dental care in patients with genetic syndromes.
Sci Rep
December 2024
Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097, Warsaw, Poland.
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases. The aim of the study was to assess hygienic behaviors, use of dental care and frequency of professional preventive procedures among Polish children and adolescents with Prader-Willi, Down, Angelman, Silver-Russell and Smith-Lemli-Opitz syndromes. Parents/legal guardians of children and adolescents with genetic syndromes were included.
View Article and Find Full Text PDFEmbryotoxicity of statins and other prescribed drugs with reported off-target effects on cholesterol biosynthesis.
Reprod Toxicol
December 2024
Department of Biological Sciences, Alabama State University, Montgomery, AL, United States; Center For NanoBiotechnology Research, Alabama State University, Montgomery, AL, United States. Electronic address:
Cholesterol plays pivotal cellular functions ranging from maintaining membrane fluidity to regulating cell-cell signaling. High cholesterol causes cardiovascular diseases, low cholesterol is linked to neuropsychiatric disorders, and inborn errors of cholesterol synthesis cause multisystem malformation syndromes. Statins lower cholesterol levels by inhibiting the first, rate-limiting reaction of the cholesterol biosynthesis pathway catalyzed by hydroxymethyl-glutaryl-Coenzyme A reductase (HMGCR).
View Article and Find Full Text PDFSupplementation of diet with Astaxanthin and DHA prevents gestational and lactational undernourishment-induced metabolic derangements in dams: a metabolomic approach.
J Dev Orig Health Dis
November 2024
Department of Physiology, KS Hegde Medical Academy, Nitte (Deemed to be University), Karnataka, Mangalore, India.
Article Synopsis
- Nutrition significantly impacts the health of both mothers and their offspring, particularly during critical periods like gestation and lactation, where undernutrition can lead to metabolic disorders such as obesity and cardiovascular diseases.
- A study evaluated the effects of maternal undernutrition on the plasma metabolic profiles of mothers, revealing increased levels of harmful lipids and dysregulated pathways related to cholesterol and hormone metabolism.
- Supplementation with astaxanthin and DHA showed promise in mitigating these negative effects by positively influencing various lipid metabolism pathways, potentially improving health outcomes for both mothers and their offspring.
First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin.
Oxf Med Case Reports
November 2024
Department of Otorhinolaryngology, Al Mouwasat University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria.
Article Synopsis
- Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that disrupts cholesterol synthesis, leading to a range of physical and mental developmental issues.
- A case study focuses on a 25-day-old male infant with congenital anomalies like microcephaly and syndactyly, alongside serious symptoms such as severe vomiting, irritability, and dehydration.
- Laboratory tests confirmed low serum cholesterol and a genetic diagnosis of SLOS, with treatment involving simvastatin leading to improved symptoms; this case is notable as the first documented instance of SLOS in Syria.
A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis, and Smith-Lemli-Opitz syndrome.
J Lipid Res
November 2024
Lipid Clinic, Oslo University Hospital, Aker, Oslo, Norway; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Article Synopsis
- Patients with rare lipid disorders have specific sterols that accumulate in their blood, making accurate measurement crucial for diagnosis and treatment monitoring.
- Existing methods to test sterols can be complicated and time-consuming, limiting access to tests in many areas.
- A new, simple method using isotope-dilution LC-MS/MS was developed to quickly extract and measure sterols in blood, validated through analysis of serum samples from both healthy controls and patients, showing significant differences in sterol levels linked to various disorders.
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