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Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFAssociations of Maternal Prenatal Zinc Consumption with Infant Brain Tissue Organization and Neurodevelopmental Outcomes.
Nutrients
January 2025
Department of Psychiatry and Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Background/objectives: While studies in rat pups suggest that early zinc exposure is critical for optimal brain structure and function, associations of prenatal zinc intake with measures of brain development in infants are unknown. This study aimed to assess the associations of maternal zinc intake during pregnancy with MRI measures of brain tissue microstructure and neurodevelopmental outcomes, as well as to determine whether MRI measures of the brain mediated the relationship between maternal zinc intake and neurodevelopmental indices.
Methods: Forty-one adolescent mothers were recruited for a longitudinal study during pregnancy.
Vitamin D: Evidence-Based Health Benefits and Recommendations for Population Guidelines.
Nutrients
January 2025
Orthomolecular Medicine News Service, Columbia, SC 29212, USA.
Vitamin D offers numerous under-recognized health benefits beyond its well-known role in musculoskeletal health. It is vital for extra-renal tissues, prenatal health, brain function, immunity, pregnancy, cancer prevention, and cardiovascular health. Existing guidelines issued by governmental and health organizations are bone-centric and largely overlook the abovementioned extra-skeletal benefits and optimal thresholds for vitamin D.
View Article and Find Full Text PDFCytogenetic markers in newborns of mothers with comorbidities.
Mutat Res Genet Toxicol Environ Mutagen
January 2025
Health Promotion Program University of Franca, SP, Brazil. Electronic address:
We have studied the presence and frequency of micronuclei in exfoliated oral mucosa cells of full-term newborns and their association with maternal prenatal factors. We report an analytical, observational, cross-sectional, prospective study that includes 97 preterm infants (<37 weeks), 37 newborns from mothers with comorbidities, and 60 newborns from mothers without comorbidities, in a tertiary public hospital. Oral mucosa cells were collected within 24 h after birth.
View Article and Find Full Text PDFIncidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy.
Cureus
December 2024
Maternal Fetal Medicine, Michigan State University College of Human Medicine/Corewell Health, Grand Rapids, USA.
The noninvasive prenatal test (NIPT) for genetic screening has been adopted globally as an alternative to first-trimester and quad screening due to its high sensitivity and specificity. NIPT involves detecting and processing foreign fetal DNA in maternal circulation to screen for fetal aneuploidy. An incidental consequence of this process is the detection of foreign tumor cell DNA in maternal circulation in otherwise asymptomatic patients.
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