Publications by authors named "E Fernandez-Bustillo"
The Gilles de la Tourette syndrome (GTS) and Non-Coeliac Gluten Sensitivity (NCGS) may be associated. We analyse the efficacy of a gluten-free diet (GFD) in 29 patients with GTS (23 children; six adults) in a prospective pilot study. All of them followed a GFD for one year.
View Article and Find Full Text PDFBackground: Currently, there is a remarkable lack of genetic epidemiological studies on alpha 1-antitrypsin (AAT) deficiency in about half of the 193 countries of the World. This fact impedes the establishment of a true prevalence pattern of this deleterious hereditary disorder in extensive regions of human population. 2.
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- AAT deficiency is more common in the U.S. than previously thought, impacting over 33,000 individuals, particularly those with the PI*ZZ genetic makeup.
- The study analyzed prevalence rates of AAT deficiency among five ethnic groups, revealing notable differences in the risk across these subgroups.
- Whites face the highest risk, followed by Hispanics and Blacks, while risk among Mexican Americans is lower and there is no risk found in Asians, indicating a need for improved awareness and diagnostic measures in healthcare.
Formalin-fixed, paraffin-embedded skin tissue sections were collected from a matched cohort of 63 fibromyalgia syndrome (FMS) patients and 49 volunteers from the general population with both alpha1-antitrypsin (AAT) normal and deficiency variants. These tissues were examined for the expression of the broad-spectrum inhibitor AAT, the serine proteinases elastase and tryptase, the proinflammatory cytokines MCP-1 and TNFα, the endothelium biomarker VEGF, and the inflammation/nociception-related receptor PAR(2). The most relevant finding of the study was a significantly increased number of mast cells (MCs) in the papillary dermis of all FMS patients (greater than or equal to five to 14 per microscopic high power field) compared to zero to one in controls (p < 0.
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- AAT deficiency is a common genetic disorder that increases the risk of lung and liver diseases, making it crucial to estimate its prevalence for better screening and treatment programs.
- The study developed new formulas to estimate the prevalence of two deficiency alleles, PI S and PI Z, across 25 countries in the Americas by analyzing data from immigrant populations and local genetic studies.
- Results revealed significant variations in the prevalence of these alleles among different regions, highlighting a notable number of individuals at risk for health complications associated with AAT deficiency, particularly in European, Mestizo, and Mulatto populations.