The angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) polymorphism could influence predisposition for diabetic nephropathy (DN) by vascular modulation in the kidney, through a direct effect on cellular hypertrophy. However, studies on the association between this polymorphism and DN report conflicting results. To help determine if this association exists, we conducted a meta-analysis. Published studies until 2018 were researched from electronic databases PubMed/NCBI and Cochrane Library. Thirty studies including 4,774 DN cases and 4,357 individuals without DN were included in this meta-analysis. Extraction of data from all eligible publications was performed by two investigators independently, according to the inclusion and exclusion criteria. We used the statistical software "R" by the overall odds ratio (OR) with a 95% confidence interval to evaluate the association of ACE I/D polymorphism with a possible risk towards DN development. We included various genetic model analyses, sensitivity analyses, and assessments of bias in our meta-L.C. Silveira et al. 2analysis. We found a significant association for ACE I/D polymorphism; the D allele is a predisposing factor for DN in diabetic patients. The risk for development of diabetes complications, such as DN, is highly complex and could be considered multifactorial. In summary, our meta-analysis shows that the ACE I/D polymorphism is associated with susceptibility to DN.

Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease that affects motor neurons and promotes progressive muscle atrophy. It has a multifactorial etiology, where environmental conditions playing a remarkable role through the increase of oxidative stress. Genetic polymorphisms in cell detoxification genes, such as Glutathione S-Transferase Pi 1 (GSTP1) can contribute to excessive oxidative stress, and therefore may be a risk factor to ALS. Thus, this study aimed to investigate the role of the GSTP1 rs1695 polymorphism in ALS susceptibility in different genetic inheritance models and evaluate the association of the genotypes with risk factors, clinical and demographic characteristics of ALS patients from the Brazilian central population. This case-control study was conducted with 101 patients with ALS and 101 healthy controls. GSTP1 rs1695 polymorphism genotyping was performed with Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR-RFLP). The statistical analysis was carried out using the SPSS statistical package and SNPStats software. Analysis of genetic inheritance models was performed by logistic regression, which was used to determine the Odds Ratio. The results of this first study in the Brazilian population demonstrated that there was no risk association between the development of ALS and the GSTP1 rs1695 polymorphism in any genetic inheritance model (codominant, dominant, recessive, overdominant, and logarithmic); and that the polymorphic variants were not associated with the clinical and demographic characteristics of ALS patients. No association of the GSTP1 rs1695 polymorphism and ALS development in the Brazilian central population was found. These findings may be justified by the multifactorial character of the disease.

Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressing multisystemic and multifactorial neurodegenerative disease that affects upper and lower motor neurons. Neuroinflammation is an important factor in neurodegeneration, the increase of immune cells in the neural tissue and degranulation of these cells causes neuronal damage and death, thus playing an important role in ALS pathophysiology. Studies have sought to use the neutrophil-lymphocyte ratio (NLR) and the platelet-lymphocyte ratio (PLR) as biomarkers of the inflammatory response indicative of diagnosis, stratification, progression and response to treatment of several diseases, including neurodegenerative. Thus, the aim of this study was to evaluate NLR and PLR as possible biomarkers in the neurodegenerative process. This retrospective cross-sectional study was carried out with 43 ALS patients selected at the Dr. Henrique Santillo Rehabilitation and Readaptation Center (CRER), Goiânia, Goiás – Brazil. Neutrophil, platelet, and lymphocyte counts were collected from the patient's most recent hemogram. Statistical analysis was performed using SPSS software, version 26. The correlation between NLR and PLR according to clinical condition showed a significant difference in these parameters during the initial phase of ALS development (p=0.01), revealing a marked inflammatory, with subsequent decline as the disease progresses (p=0.06). Furthermore, the results indicated a moderate positive linear relationship between the two variables (r=0.57; p<0.001), showing a joint increase in these parameters. Therefore, NLR and PLR are important indicators of inflammation and can be useful due to their simplicity, high reproducibility and low-cost for routine use.

Objective: This study aimed to evaluate the clinical-epidemiological characteristics of patients with Amyotrophic Lateral Sclerosis (ALS) in the State of Goiás, Brazil. Methods: We conducted a descriptive cross-sectional study to assess medical records of patients with ALS followed-up at the State Rehabilitation and Readaptation Medical Center Dr. Henrique Santillo, Goiânia, GO, Brazil, between 2005 and 2018. In addition, we registered and created a photographic panel with the main clinical findings of ALS cases. Results: From 224 investigated patients, 51.8% were male, and 67.4% manifested the classic form of the disease. Initial symptoms were more frequent in the lower limbs (37.9%), and complications resulted in 45.5% of tracheostomy, 60.3% of gastrostomy, and 49.1% of deaths. Most patients had a five-year survival from the onset of symptoms, and no significant association between the use of non-invasive ventilation and increased survival were found. The analysis of the clinical-epidemiological characteristics showed a more extended time between the first symptoms and the diagnosis of the disease was observed. Conclusion: In this study, the time between the first symptoms and diagnosis was longer than in the literature, resulting in late treatments. In addition, there was no satisfactory result regarding survival with the use of non-invasive ventilation. Therefore, clinical-epidemiological studies of the disease in Brazil, as well as public awareness and training of professionals in recognition of ALS clinical signs will assist in early and more efficient interventions.

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