ABSTRACT
ABSTRACT: During July 2017, Texas public health officials noted an increase in the number of reported cyclosporiasis cases. They detected a cluster in the Houston metropolitan area that involved four locations of a Mediterranean restaurant chain, restaurant A. A case-control study was conducted among patrons of restaurant A to identify a common food vehicle among items containing fresh produce. In matched case-control ingredient-level analyses that included both probable and confirmed cases, consumption of green onions, red onions, tomatoes, and cabbage was significantly associated with illness. A substantial percentage of case patients reported consumption of green onions, and only green onions remained statistically significantly associated with illness, whether probable and confirmed cases were included in analyses (matched odds ratio: 11.3; 95% confidence interval: 2.5 to 104.7), or only confirmed cases were included in analyses (matched odds ratio: 17.6; 95% confidence interval: 2.5 to 775.7). These results provide evidence that green onions were the likely vehicle of infection. It was not possible to trace the green onions to their source due to the need to redirect public health resources to Hurricane Harvey response efforts in Texas.
ABSTRACT
Holoprosencephaly (HPE), which results from failed or incomplete midline forebrain division early in gestation, is the most common forebrain malformation. The etiology of HPE is complex and multifactorial. To date, at least 12 HPE-associated genes have been identified, including TGIF (transforming growth factor beta-induced factor), located on chromosome 18p11.3. TGIF encodes a transcriptional repressor of retinoid responses involved in TGF-ß signaling regulation, including Nodal signaling. TGIF mutations are reported in approximately 1-2% of patients with non-syndromic, non-chromosomal HPE. We combined data from our comprehensive studies of HPE with a literature search for all individuals with HPE and evidence of mutations affecting TGIF in order to establish the genotypic and phenotypic range. We describe 2 groups of patients: 34 with intragenic mutations and 21 with deletions of TGIF. These individuals, which were ascertained from our research group, in collaboration with other centers, and through a literature search, include 38 probands and 17 mutation-positive relatives. The majority of intragenic mutations occur in the TGIF homeodomain. Patients with mutations affecting TGIFrecapitulate the entire phenotypic spectrum observed in non-chromosomal, non-syndromic HPE. We identified a statistically significant difference between the 2 groups with respect to inheritance, as TGIF deletions were more likely to be de novo in comparison to TGIF mutations (χ(2) ((2)) = 6.97, p(permutated) = 0.0356). In addition, patients with TGIF deletions were also found to more commonly present with manifestations beyond the craniofacial and neuroanatomical features associated with HPE (p = 0.0030). These findings highlight differences in patients with intragenic mutations versus deletions affecting TGIF, and draw attention to the homeodomain region, which appears to be particularly relevant to HPE. These results may be useful for genetic counseling of affected patients.
