Association between Helicobacter pylori infection and primary open-angle glaucoma

The pathological processes of primary open-angle glaucoma is unknown. Several studies show the relation between Helicobacter pylori infection and primary open-angle glaucoma. The purpose of this study was to assess the association between H. pylori infection and primary open-angle glaucoma. Forty patients of diagnosed primary open-angle glaucoma were selected as case and 40 participants without primary open-angle glaucoma were selected as control as per inclusion and exclusion criteria. Complete clinical evaluation including history, physical examination, relevant ocular examinations and laboratory investigations were performed. Serologic evidence of H. pylori infection was found in 75% of patients with primary open-angle glaucoma and 30% of patients without primary open-angle glaucoma which achieved statistically significant difference (p=0.000, OR=7.00 and CI 95% =2.61-18.74). 13C urea breath test was positive in 70% in case group and 37.5% in control group which also achieved statistically significant difference  (p=0.003, OR=3.89 and CI 95% =1.53-9.87). The findings revealed significant association between H. pylori infection and primary open-angle glaucoma.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited. By combining the results of diagnostic testing of 49,684 individuals, we identified 24 microdeletions that affect at least one exon of AUTS2, as well as one translocation and one inversion each with a breakpoint within the AUTS2 locus. Comparison of 17 well-characterized individuals enabled identification of a variable syndromic phenotype including ID, autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. The dysmorphic features were more pronounced in persons with 3'AUTS2 deletions. This part of the gene is shown to encode a C-terminal isoform (with an alternative transcription start site) expressed in the human brain. Consistent with our genetic data, suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2. Our observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology. The zebrafish model provides a valuable tool for investigating the etiology of AUTS2 syndrome and facilitating gene-function analysis in the future