We examined the effects of a 20-week exercise intervention on whole-blood genome-wide DNA methylation signature and its association with the exercise-induced changes in gene expression profiles in boys and girls with overweight/obesity (OW/OB). Twenty-three children (10.05 ± 1.
View Article and Find Full Text PDFBackground: Symptomatic postoperative spinal epidural hematomas (PEDHs) are rare complications, with significant implications on patients' functional outcomes. Strategies for PEDH prevention are poorly understood. This study sought to evaluate preoperative and intraoperative variables predicting the risk of PEDH and patients' functional outcomes after PEDH evacuation.
View Article and Find Full Text PDFClin Adv Periodontics
September 2024
Background: Non-carious cervical lesions (NCCLs) refer to the loss of dental hard tissue in the cervical region due to physical and/or chemical factors, often associated with the disappearance of the cemento-enamel junction (CEJ), posing challenges in both diagnosis and treatment of gingival recessions (GR). This case study introduces two protocols for multidisciplinary CEJ reconstruction prior to the root coverage therapy (RCT).
Methods: Two patients with GR and NCCLs were treated using two CEJ reconstruction techniques: both, analogically and digitally guided.
Multiple sclerosis (MS) is a devastating immune-mediated disorder of the central nervous system resulting in progressive disability accumulation. As there is no cure available yet for MS, the primary therapeutic objective is to reduce relapses and to slow down disability progression as early as possible during the disease to maintain and/or improve health-related quality of life. However, optimizing treatment for people with MS (pwMS) is complex and challenging due to the many factors involved and in particular, the high degree of clinical and sub-clinical heterogeneity in disease progression among pwMS.
View Article and Find Full Text PDFPediatric obesity can drastically heighten the risk of cardiometabolic alterations later in life, with insulin resistance standing as the cornerstone linking adiposity to the increased cardiovascular risk. Puberty has been pointed out as a critical stage after which obesity-associated insulin resistance is more difficult to revert. Timely prediction of insulin resistance in pediatric obesity is therefore vital for mitigating the risk of its associated comorbidities.
View Article and Find Full Text PDFObjectives: To characterise the exposure to valproate within a cohort of pregnant women using electronic health records (EHRs) from Catalonia (System for the Development of Research in Primary Care, SIDIAP).
Design: Drug-utilisation cohort study covering the period from January 2011 to June 2020. The study included pregnancy episodes of women from Catalonia identified by the algorithm.
Purpose: This study aims to answer a key question: is MYO7A-inherited retinal dystrophy (MYO7A-IRD) a photoreceptor-first or retinal pigment epithelium-first disease? A second aim was to determine the most useful biomarkers to monitor disease progression in pediatric patients with Usher syndrome type 1B (USH1) secondary to MYO7A mutation.
Methods: Fifty-two eyes from 26 patients with genetically-confirmed MYO7A-IRD underwent swept-source optical coherence tomography (SS-OCT). Structural abnormalities were evaluated and correlated with follow-up time and best corrected visual acuity (BCVA).
Domestic cat blastocysts cultured without the zona pellucida exhibit reduced implantation capacity. However, the protein expression profile has not been evaluated in these embryos. The objective of this study was to evaluate the protein expression profile of domestic cat blastocysts cultured without the zona pellucida.
View Article and Find Full Text PDFPre-implantation embryos release extracellular vesicles containing different molecules, including DNA. The presence of embryonic DNA in E-EVs released into the culture medium during in vitro embryo production could be useful for genetic diagnosis. However, the vesicles containing DNA might be derived from embryos suffering from apoptosis, i.
View Article and Find Full Text PDFObjective: Eyebrow supraorbital craniotomy is a versatile keyhole technique for treating intracranial pathologies. The eyelid supraorbital approach, an alternative approach to an eyebrow supraorbital craniotomy, has not been widely adopted among most neurosurgeons. The purpose of this systematic review and meta-analysis was to perform a pooled analysis of the complications of eyebrow or eyelid approaches for the treatment of aneurysms, meningiomas, and orbital tumors.
View Article and Find Full Text PDFexemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern, marked by the identification of both a previously unreported and a rarely encountered variant. Whole-exome sequencing was performed to identify potential causative variants.
View Article and Find Full Text PDFPurpose: The COVID-19 pandemic has impacted medication needs and prescribing practices, including those affecting pregnant women. Our goal was to investigate patterns of medication use among pregnant women with COVID-19, focusing on variations by trimester of infection and location.
Methods: We conducted an observational study using six electronic healthcare databases from six European regions (Aragon/Spain; France; Norway; Tuscany, Italy; Valencia/Spain; and Wales/UK).
Objective: The study objective was to investigate the effect of cold exposure on the plasma levels of five potential human brown adipokines (chemokine ligand 14 [CXCL14], growth differentiation factor 15 [GDF15], fibroblast growth factor 21 [FGF21], interleukin 6 [IL6], and bone morphogenic protein 8b [BMP8b]) and to study whether such cold-induced effects are related to brown adipose tissue (BAT) volume, activity, or radiodensity in young humans.
Methods: Plasma levels of brown adipokines were measured before and 1 h and 2 h after starting an individualized cold exposure in 30 young adults (60% women, 21.9 ± 2.
Objective: In recent years, safety concerns about modafinil exposure during pregnancy have emerged. In particular, increased risks for major congenital anomalies (MCA) and impaired fetal growth were reported, although study results were conflicting. Our investigation aims to examine previously reported safety signals.
View Article and Find Full Text PDFBackground: Studies of neurosurgical pediatric patients associate treatment at low-volume hospitals and by low-volume surgeons with increased odds of adverse outcomes. Although these associations suggest that increased centralization of care could be considered, we evaluate whether confounding endogenous factors mitigate against the proposed outcome benefits.
Methods: Literature review of English language articles from 1999 to 2021.
Background: Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intragenic deletion or whole-gene deletion of FXN on one allele and a full-penetrance expanded GAA repeat on the other allele.
Case Presentation: We report here a patient that presented the typical clinical features of FRDA and genetic analysis of FXN intron 1 led to the assumption that the patient carried the common biallelic expansion.