Publications by authors named "Aguilera C"

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.

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  • Dermal sinus tracts (DSTs) are rare congenital lesions that pose risks of infection and neurological issues due to their connection between the skin and spinal cord, making surgical intervention recommended, though the timing for surgery in asymptomatic cases is uncertain.
  • A retrospective review from 1998 to 2022 studied 52 patients who underwent DST excision and detethering, excluding those with pre-existing complications.
  • Results indicated a median surgery age of 7 months, with complications in 8% of cases, and younger age at surgery was linked to higher risks of postoperative problems and continued neurological issues.
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  • - The study investigates the role of the Pyk2 gene in obesity among children and adolescents, noting its previously unclear involvement in energy balance-related diseases.
  • - Researchers measured mRNA expression levels of Pyk2 in 130 Caucasian subjects, split into two groups based on Body Mass Index (BMI), and found higher expression levels in those with obesity.
  • - The results revealed a positive correlation between Pyk2 expression levels and various obesity-related metrics (like weight, fat mass, and blood pressure), suggesting that Pyk2 may be a potential predictor for developing obesity.
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Background: 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.

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  • - This study reports the first isolation of a newly identified bacteria species from two patients in France suffering from gastroenteritis, using samples collected in 2020 and 2022.
  • - Both isolates were confirmed to belong to the same species through various methods including biochemical tests, electron microscopy, and genetic analyses, and they exhibited significant cytopathogenic activity in human intestinal cells.
  • - The findings highlight the importance of utilizing next-generation sequencing for accurate species identification. It underscores the need to recognize emerging pathogens like this new species as potential foodborne threats to public health.
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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.

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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.

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Pediatric 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.

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Objectives: 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.

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  • TCPs (transitional care protocols) can significantly improve discharge outcomes for patients undergoing elective neurosurgery, leading to higher rates of home discharges and reduced hospital stays.
  • The review analyzed 16 studies, revealing a notable decrease in readmission rates, emergency department visits, and overall length of hospital stays for patients who had TCPs implemented.
  • Overall, the findings suggest that implementing TCPs in elective neurosurgery settings may enhance patient satisfaction and safety, ultimately alleviating the strain on healthcare systems.
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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).

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  • Temple syndrome (TS14) is a rare genetic disorder caused by issues with parental gene expression, leading to developmental delays and growth problems in affected individuals.
  • A study on a 2-year-old girl showed symptoms like language delay, small stature, and early puberty, prompting genetic testing to pinpoint the underlying cause.
  • The genetic analysis revealed a deletion of the DLK1 gene from the father, resulting in abnormal gene methylation patterns that align with the clinical profile of Temple syndrome.
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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.

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Pre-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.

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Objective: 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.

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exemplifies 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.

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  • The skin acts as a vital barrier for defense against infections, involving various resident and recruited cell types, but the communication between these cells is not fully understood.
  • A study analyzing mouse skin during S. aureus infection identified CXCL12+ fibroblast subsets as key players in neutrophil communication and recruitment through the release of specific signaling factors.
  • The absence of IL-17 receptor in these fibroblasts led to reduced neutrophil recruitment and worsened infections, suggesting that similar fibroblast subsets in humans may also significantly influence immune responses in skin diseases like psoriasis.
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Purpose: 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).

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  • Cold exposure can make a special type of fat in our body called brown adipose tissue (BAT) work better, which may help improve heart and metabolism health.
  • When young adults are in a cold environment for 2 hours, their bodies produce different types of fat signals, but people who are overweight don't show as much change as those at a healthier weight.
  • The changes in fat signals from the cold are linked to good things like lower fat and sugar levels in the body, but exercising for 24 weeks doesn't change how the body reacts to cold.
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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.

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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.

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Background: 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.

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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.

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