Publications by authors named "M Guitart"

Article Synopsis
  • Prematurity can cause health problems in newborns, and anemia is a common issue for very premature babies who often need blood transfusions.
  • Researchers are looking into using cord blood (from the umbilical cord) as an alternative to adult blood for these transfusions to avoid complications.
  • The study compared the quality and characteristics of cord blood red blood cells to adult red blood cells during storage and found that cord blood cells had some stability issues but were generally acceptable for use.
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Article Synopsis
  • 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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Background: The COVID-19 pandemic has constituted an extraordinarily stressful situation for healthcare professionals and has led to psychological distress and an increase in various mental disorders. In the post-pandemic context, it is necessary to provide professionals with strategies and skills to manage this stressful situation and prevent or minimize its negative impact.

Methods: Aims: To assess the feasibility and clinical effects of a group psychoeducational program focused on preventing the adverse psychological and emotional effects of the pandemic on primary care workers, and to explore the experience and perceptions of participants with regard to the program from a qualitative perspective.

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Neurodevelopmental disorders (NDDs) affect 2-5% of the population and approximately 50% of cases are due to genetic factors. Since pathogenic variants account for the majority of cases, a gene panel including 460 dominant and X-linked genes was designed and applied to 398 patients affected by intellectual disability (ID)/global developmental delay (GDD) and/or autism (ASD). Pathogenic variants were identified in 83 different genes showing the high genetic heterogeneity of NDDs.

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Skeletal muscle dysfunction in chronic obstructive pulmonary disease (COPD) is characterized by a significant reduction in muscle strength and endurance. Preclinical studies show that stimulation of the soluble guanylate cyclase (sGC)-cGMP pathway attenuates muscle mass loss and prevents cigarette smoke-induced oxidative stress, indicating that pharmacological activation of the guanylyl cyclase pathway in COPD may provide a beneficial therapeutic strategy that reaches beyond the lung. In this study, conducted in an animal model of COPD, we first set out to assess the effect of cigarette smoke (CS) on biomarkers of muscle fatigue, such as protein degradation and its transcriptional regulation, in two types of muscles with different energy demands, i.

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