Publications by authors named "Jimenez-Gonzalez P"

Sociodemographic factors have long been associated with disparities in autism spectrum disorder (ASD) diagnosis. Studies that identified spatial clustering of cases have suggested the importance of information about ASD moving through social networks of parents. Yet there is no direct evidence of this mechanism.

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Article Synopsis
  • Rare copy-number variation (CNV) is a significant risk factor for autism spectrum disorders (ASDs), as shown by the analysis of 2,446 ASD-affected families, revealing higher rates of genic deletions and duplications in affected individuals compared to controls.
  • Affected individuals showed a notable increase in pathogenic CNVs linked to specific ASD and intellectual disability loci, with implications for various neurodevelopmental genes, including CHD2 and SETD5.
  • Additionally, females with ASD had a higher prevalence of potent CNVs and were overrepresented in categories associated with fragile X syndrome, highlighting potential gender-specific factors in CNV that influence ASD.
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Background: The 15q24 microdeletion syndrome has been recently described as a recurrent, submicroscopic genomic imbalance found in individuals with intellectual disability, typical facial appearance, hypotonia, and digital and genital abnormalities. Gene dosage abnormalities, including copy number variations (CNVs), have been identified in a significant fraction of individuals with autism spectrum disorders (ASDs). In this study we surveyed two ASD cohorts for 15q24 abnormalities to assess the frequency of genomic imbalances in this interval.

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Brain death is accompanied by a series of hemodynamic, hormonal and inflammatory systemic effects that have an important repercussion on the economy of the organs and tissues. There is increasing evidence that the organs from brain death donors have an inflammatory response grade secondary to brain death and sometimes proportional to the intensity and rate of its progression. Both clinical and experimental studies have shown that the result of organs from heart arrest deceased donors or live donors have the same or better clinical results than those obtained in brain death donors and who have suffered the inflammatory process secondary to it.

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Despite the use of well-accepted protocols for donor maintenance, the severe electrolytic disorders are not infrequent with deleterious consequences to the organs. The objective of our survey was to determine the incidence of episodes of electrolyte disorders among brain-dead patients (despite of rigid protocols of maintenance) and the rate of anaerobic metabolism in these patients (suggestive of an occult systemic hypoperfusion). The study group of 50 brain-dead patients underwent therapy to maintain normal arterial pressure, urine output, and body temperature.

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Since cadaveric donation is the main source of organs for transplantation in many countries, the diagnosis of brain death is an important issue. The cessation of cerebral circulation is one phenomenon closely related to brain death. Transcranial Doppler sonography is one of the accepted techniques to establish cessation of cerebral circulation.

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Delays in diagnosis of brain death have definite consequences for the organ retrieval and transplantation process. It is advisable to use accurate diagnostic methods. Transcranial Doppler sonography is a well-accepted technique for diagnosing cerebral circulatory arrest.

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The identification of patients with high risk of evolution to brain death is one of the more important tasks of transplant coordination teams. Although most of pool of potential donors come from the group of patients who suffer a head injury or hemorrhagic stroke, the procurement of organs from brain-dead patients suffering an ischemic stroke as the cause of brain damage must also be considered. The main objective of this study was to investigate the radiological signs that in the CT scan of admission to a neurological ICU are more frequently associated with progression to brain death.

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