Background
Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years.
Methods
Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities. Cases were identified using the ICD-10 CNS malformation codes. Birth prevalence was calculated as cases per 10,000 live births.
Results
Overall, 275 cases of CNS malformations were identified from 123,903 live births (54% Females, 58% NTDs). Overall 6- year birth prevalence of CNS malformations ranged from 13.9 and 31.1. Spina bifida variants and anencephaly represented 80% and 19% of reported NTDs, respectively. Total 6-year prevalence of NTDs in Western Honduras ranged from 7.0 to 17.4 over years studied. Six municipalities demonstrated average prevalence over 30 (maximum 49.0).
Conclusion
This is the first study reporting disease-burden of CNS malformations in Western Honduras. The nationwide birth-prevalence of NTDs in rural Honduras may have decreased since the implementation of prenatal health policies started in 2005. However, we identified regions with unexpectedly elevated prevalence, indicating high regional prevalence that could be targeted for improved preventative efforts, ultimately decreasing the burden of these conditions.
Histiocytoses are a heterogeneous group of diseases, characterized by the accumulation of reactive or neoplastic histiocytes in various tissues. Generalized eruptive histiocytosis belongs to cutaneous non-Langerhans' cell histiocytoses and is a rare, generalized, self-healing disorder that usually follows a benign clinical course. Herein, we report a case of generalized eruptive histiocytosis in a 41-year-old woman with peculiar clinical and histological features. Clinically, the papules showed a marked distribution into the seborrhoeic areas of the trunk, with a great tendency to coalesce. Furthermore, immunohistochemical labelling demonstrated that the histiocytes were positive for CD68, but negative for CD34, S100, CD1a and XIIIa factor. This is the second report of generalized eruptive histiocytosis with a negative XIIIa factor. We discuss the differential diagnoses of the clinical picture and emphasize that this benign cutaneous disorder should be subjected to close follow-up, owing to the possibility of evolution to a more severe type of histiocytosis or the association with underlying diseases. Spontaneous regression was observed in this actual case.
ObjectivesTo provide a comprehensive characterization of DNA methylome of oral tongue squamous cell carcinoma (OTSCC) and identify novel tumor‐specific DNA methylation markers for early detection using saliva.Material and MethodsGenome‐wide DNA methylation analysis including six OTSCC matched adjacent non‐tumoral tissue and saliva was performed using Infinium MethylationEPIC array. Differentially methylated levels of selected genes in our OTSCC cohort were further validated using OTSCC methylation data from The Cancer Genome Atlas database (TCGA). The methylation levels of a set of tumor‐specific hypermethylated genes associated with a downregulated expression were evaluated in saliva. Receiver operating characteristic (ROC) curves were performed to assess the diagnostic value of DNA methylation markers.ResultsA total of 25,890 CpGs (20,505 hypomethylated and 5385 hypermethylated) were differentially methylated (DMCpGs) between OTSCC and adjacent non‐tumoral tissue. Hypermethylation of 11 tumor‐specific genes was validated in OTSCC TCGA cohort. Of these 11 genes, A2BP1, ANK1, ALDH1A2, GFRA1, TTYH1, and PDE4B were also hypermethylated in saliva. These six salivary methylated genes showed high diagnostic accuracy (≥0.800) for discriminating patients from controls.ConclusionsThis is the first largest genome‐wide DNA methylation study on OTSCC that identifies a group of novel tumor‐specific DNA methylation markers with diagnostic potential in saliva.
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