Publications by authors named "Fred Vaz"

Article Synopsis
  • Hypertrophic cardiomyopathy (HCM) is a heart condition caused by gene mutations in about half of the patients, while the other half don't have these mutations.
  • Researchers studied heart tissue from patients to understand how energy use and fat processing changes in both groups of HCM patients.
  • They found different metabolic changes between the two groups that affect how the disease progresses in the heart.
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Duodenal mucosal resurfacing (DMR) is a new endoscopic ablation technique aimed at improving glycemia and metabolic control in patients with type 2 diabetes mellitus (T2DM). DMR appears to improve insulin resistance, which is the root cause of T2DM, but its mechanism of action is largely unknown. Bile acids function as intestinal signaling molecules in glucose and energy metabolism via the activation of farnesoid X receptor and secondary signaling [e.

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Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childhood, adult phenotypes that can help in understanding the natural history of the disorder are rare. We describe two adult cases of GAMT deficiency from a consanguineous family in Pakistan that presented with a history of global developmental delay, cognitive impairments, excessive drooling, behavioral abnormalities, contractures and apparent bone deformities initially presumed to be the reason for abnormal gait.

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Article Synopsis
  • Early diagnosis and dietary treatment in classical galactosemia may not prevent long-term complications, particularly in the central nervous system, highlighting the diverse clinical outcomes among patients.
  • This study aimed to enhance understanding of classical galactosemia's natural history and investigate potential prognostic biomarkers related to clinical outcomes, including intellectual performance and movement disorders.
  • Results showed a wide range of intellectual outcomes and a high incidence of movement disorders and primary ovarian insufficiency among patients, but no significant differences in the studied biomarkers between those with poor or normal intellectual outcomes.
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Recently, it was suggested that β-aminoisobutyric acid (BAIBA) is a myokine involved in browning of fat. However, there is no evidence for an acute effect of exercise supporting this statement and the metabolic distinct enantiomers of BAIBA were not taken into account. Concerning these enantiomers, there is at this point no consensus about resting concentrations of plasma R- and S-BAIBA.

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Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment.

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Bile acids (BAs) are molecules with endocrine activities controlling several physiological functions such as immunity, glucose homeostasis, testicular physiology and male fertility. The role of the nuclear BA receptor FXRα in the control of BA homeostasis has been well characterized. The present study shows that testis synthetize BAs.

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Weak organic acids like sorbic and acetic acid are widely used to prevent growth of spoilage organisms such as Bacilli. To identify genes involved in weak acid stress tolerance we screened a transposon mutant library of for sorbic acid sensitivity. Mutants of the () gene were found to be hypersensitive to the lipophilic weak organic acid.

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