Publications by authors named "Abreu Marco"

Article Synopsis
  • - Unexplained increases in blackwater fever (BWF) in Eastern Uganda prompted a study examining how immune complexes and glucose-6-phosphate dehydrogenase (G6PD) deficiency relate to severe malaria (SM) in children.
  • - The study, involving 557 children with SM and 101 community children, found that those with SM had significantly higher levels of circulating immune complexes (cIC), which were linked to complications like severe anemia and jaundice, along with predicting readmissions.
  • - G6PD deficiency, particularly in males, was shown to elevate cIC levels, and the analysis indicated that this deficiency contributes to recurring severe anemia and BWF due to the presence of these immune complexes.
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  • Genetic risks for substance use disorders (SUDs) arise from both specific and shared genes, and researchers conducted extensive analyses across different ancestries to find these shared genes.
  • They discovered 45 loci and identified 250 SUD-shared genes, which are mainly active in key brain areas associated with emotion and memory.
  • The study highlighted that individuals with high polygenic scores are significantly more likely to develop SUDs, with better predictability in females, and also identified potential drug treatments that target these shared genes.
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A hallmark of fetal alcohol spectrum disorders (FASD) is neurobehavioral deficits that still do not have effective treatment. Here, we present that reduction of Apolipoprotein E (APOE) is critically involved in neurobehavioral deficits in FASD. We show that prenatal alcohol exposure (PAE) changes chromatin accessibility of Apoe locus, and causes reduction of APOE levels in both the brain and peripheral blood in postnatal mice.

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Background: In the United States, ~50% of individuals who meet criteria for alcohol use disorder (AUD) during their lifetimes do not remit. We previously reported that a polygenic score for AUD (PGS ) was positively associated with AUD severity as measured by DSM-5 lifetime criterion count, and AUD severity was negatively associated with remission. Thus, we hypothesized that PGS would be negatively associated with remission.

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  • The LEADS study focuses on understanding the genetic causes of early-onset Alzheimer's Disease (EOAD), specifically in individuals aged 40-64, by screening for known pathogenic variants.
  • *Whole exome sequencing of 299 participants found pathogenic variants in 1.35% of EOAD cases and 6.58% of early-onset non-Alzheimer's disease cases, but no gene showed a significant enrichment for rare functional variants.
  • *The findings suggest that LEADS may include new genetic variants related to early-onset cognitive impairment, making it an important resource for ongoing Alzheimer's research.*
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Unlabelled: Fetal Alcohol Spectrum Disorders (FASD) describe ethanol-induced developmental defects including craniofacial malformations. While ethanol-sensitive genetic mutations contribute to facial malformations, the impacted cellular mechanisms remain unknown. Bmp signaling is a key regulator of epithelial morphogenesis driving facial development, providing a possible ethanol-sensitive mechanism.

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Biallelic pathogenic variants in are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we review the case of a patient who was admitted to the Neonatal Intensive Care Unit (NICU) of Indiana University Health (IUH) for respiratory support after experiencing respiratory distress secondary to a small, narrow chest causing restrictive lung disease. Additional phenotypic features include postaxial polydactyly, short proximal long bones, and ambiguous genitalia were noted.

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  • GWAS in admixed populations like African Americans show limited sample sizes, impacting the effectiveness of polygenic risk scores (PRS) for diseases like alcohol use disorder (AUD).
  • A novel gene-based PRS framework was developed using 858 variants located within 410 disease-associated genes that are relevant in both African American and European ancestry populations.
  • The study found that this gene-based PRS significantly predicted AUD risk better than traditional methods, with the highest PRS decile showing a 76% increased odds of developing AUD, and identified genes potentially useful for drug repurposing.
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  • Patients with chronic kidney disease are at high risk for cardiovascular problems, particularly sudden cardiac death (SCD), which is a significant cause of mortality during dialysis.
  • A study compared 126 SCD patients with 107 controls to explore the link between rare genetic variants associated with cardiovascular death and SCD in those on hemodialysis.
  • Results indicated no significant genetic associations, suggesting that genetics may not play a major role in SCD for patients undergoing hemodialysis, despite examining 174 relevant genes.
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Large-scale analyses of protein complexes have recently become available for Escherichia coli and Mycoplasma pneumoniae, yielding 443 and 116 heteromultimeric soluble protein complexes, respectively. We have coupled the results of these mass spectrometry-characterized protein complexes with the 285 "gold standard" protein complexes identified by EcoCyc. A comparison with databases of gene orthology, conservation, and essentiality identified proteins conserved or lost in complexes of other species.

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H-trititanate nanotubes obtained by alkali hydrothermal treatment of TiO(2) followed by proton exchange were compared to their bulk H(2)Ti(3)O(7) counterpart with respect to their thermally induced structural transformation paths. As-synthesized and heat-treated samples were characterized by XRD, TEM/SAED, DSC and spectroscopy techniques, indicating that H(2)Ti(3)O(7) nanotubes showed the same sequence of structural transformations as their bulk counterpart obtained by conventional solid state reaction. Nanostructured H(2)Ti(3)O(7) converts into TiO(2)(B) via multistep transformation without losing its nanotubular morphology.

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