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1.
Nutrients ; 16(17)2024 Sep 01.
Article in English | MEDLINE | ID: mdl-39275235

ABSTRACT

This study aimed to evaluate the impact of time-restricted eating (TRE) on neuro-physiological parameters, objective and subjective sleep, pulmonary capacity, and postural balance among women with excess body weight. METHODS: Thirty-one participants were assigned to either a TRE group (n = 15, 28.74 ± 9.25 years, 88.32 ± 13.38 kg, and 32.71 ± 5.15 kg/m2), engaging in ad libitum 16 h fasting over a 12-week period, or a control group (CG, n = 16, 36.25 ± 11.52 years, 90.88 ± 19.01 kg, and 33.66 ± 6.18 kg/m2). The assessment of heart rate variability (HRV), spirometric parameters (forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), FEV1/ FVC ratio, objective and subjective sleep assessments employing actigraphy and the Epworth Sleepiness Scale, and postural balance using the Y balance test (YBT) were conducted before and after the intervention. RESULTS: No significant negative effects of TRE were observed for HRV and objective sleep parameters. Only the TRE group improved FEV1 in both sitting (p < 0.0005) and supine positions (p = 0.001). Furthermore, the TRE group showed improvement in postural balance performance compared to the CG in anterior (p = 0.03), postero-medial (p = 0.04), and postero-lateral directions (p = 0.003). CONCLUSION: This study highlights TRE as a feasible and safe dietary intervention with significant improvements in postural balance and pulmonary function, without any negative impact on HRV or objective sleep assessments among overweight or obese women.


Subject(s)
Heart Rate , Obesity , Overweight , Postural Balance , Sleep , Humans , Female , Adult , Overweight/physiopathology , Obesity/physiopathology , Postural Balance/physiology , Sleep/physiology , Heart Rate/physiology , Vital Capacity , Lung/physiopathology , Lung/physiology , Fasting , Forced Expiratory Volume , Young Adult , Middle Aged
2.
Genet Med ; 19(6): 701-710, 2017 06.
Article in English | MEDLINE | ID: mdl-27906199

ABSTRACT

PURPOSE: To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. METHODS: We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array-comparative genomic hybridization . We performed comparative transcriptomic analysis of patient-derived fibroblasts using RNA sequencing and evaluated the impact of ARID1A duplication on the cell cycle using fluorescence-activated cell sorting. Functional relationships between differentially expressed genes were investigated with ingenuity pathway analysis (IPA). RESULTS: Combining the genomic data, we defined a small (122 kb), minimally critical region that overlaps the full ARID1A gene. The four patients shared a strikingly similar phenotype that included intellectual disability and microcephaly. Transcriptomic analysis revealed the deregulated expression of several genes previously linked to microcephaly and developmental disorders as well as the involvement of signaling pathways relevant to microcephaly, among which the polo-like kinase (PLK) pathway was especially notable. Cell-cycle analysis of patient-derived fibroblasts showed a significant increase in the proportion of cells in G1 phase at the expense of G2-M cells. CONCLUSION: Our study reports a new microduplication syndrome involving the ARID1A gene. This work is the first step in clarifying the pathophysiological mechanism that links changes in the gene dosage of ARID1A with intellectual disability and microcephaly.Genet Med advance online publication 01 December 2016.


Subject(s)
Chromosomes, Human, Pair 1 , Gene Duplication , Intellectual Disability/genetics , Nuclear Proteins/genetics , Transcription Factors/genetics , Adolescent , Adult , Child , DNA-Binding Proteins , Female , Gene Expression Profiling , Humans , Male , Syndrome
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