Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; however, there is no published genetic study to date in Colombia. Despite its unknown etiopathogenesis, more genetic risk factors possibly involved in the development of this disease are constantly found.Objetives: To evaluate G93A and D90A mutations in SOD1 gene and a short tandem repeat in C9orf72 within a cohort of amyotrophic lateral sclerosis patients from Antioquia, Colombia.Materials y methods: Thirty-four patients previously diagnosed with amyotrophic lateral sclerosis were included in the study. Peripheral blood samples were used for DNA extraction and genotyping.Results: No mutations were found in SOD1 (G93A and D90A) in any of the patients, while C9orf72 exhibited an allele with a statistically significant high prevalence in the study sample (8 hexanucleotide repeats of CAGCAG).Conclusions: These results suggest an association between this short tandem repeat (STR) in C9orf72 and the presence of amyotrophic lateral sclerosis in the studied population. However, this association should be established in a larger sample size and with controls from the same population. In addition, there also seems to be a genetic anticipation effect for the disease regarding this locus, since patients with this genotype present an earlier onset.
There is a literature gap regarding facial feminization surgery (FFS) access and coverage. Our goal is to compile information from previous studies and assess the current policy landscape for these surgeries in the US. We also explored why some policies do not cover them, identify states with better coverage, and determine the most covered procedures. PubMed, Medline, Embase, and Scopus were searched for studies that reviewed policies on FFS coverage. Studies on surgical techniques or other gender-affirming surgeries (GASs) that did not involve FFS were excluded. Seven studies were included for analysis. In 2014, the Department of Human Health Services (HHS) lifted the transgender exclusion policy, leading to an increase in policies regarding GASs for both private and state insurance. However, there are differences in medical necessity requirements among policies, which may not align with the World Professional Association for Transgender Health (WPATH) criteria. States that prohibit exclusion tend to offer better coverage for FFS. These states are mainly located in the western and northeast regions, whereas states in the southern and middle east regions have less coverage. Among the procedures, chondrolaryngoplasty is the most covered, while facial and cervical rhytidectomy are the least covered. To enhance transgender care, it is crucial to reach a consensus on how to offer coverage for facial feminization surgery. However, there is a lack of adequate research on this topic, and there is a need for resources and tools to assess the results of FFS procedures. One significant constraint of this study is that it does not provide a systematic review of the literature.
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