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The relationship between the congenital defect of gastroschisis and environmental toxins is poorly understood. We examined gastroschisis incidence, risk factors, and spatial association in a geographic region with known environmental pollution and hazardous waste sites. An observational study of fetal and neonatal gastroschisis diagnosed from 1/1/2006 to 12/31/2020 was conducted in a southern West Virginia (WV) tertiary care hospital. Emerging hot spot analysis and Ripley's K-Function examined the spatial relationship between gastroschisis cases and Environmental Protection Agency (EPA) Federal Registry Sites (FRS). A total of 63 gastroschisis cases provided a prevalence rate of 14.6 per 10000 live births. Gastroschisis was associated with younger maternal age, decreased pre-pregnancy BMI, and increased maternal tobacco use. Relative to FRS sites, spatial clusters were identified with emerging hot spot analysis. Observed Ripley K was higher at all measured bands. Results suggest a potential geographic association between gastroschisis cases and EPA-designated hazardous waste sites. [ABSTRACT FROM AUTHOR]

The article focuses on a rare case of a 13-year-old boy presenting with acute small bowel obstruction due to re-volvulus, requiring a repeat Ladd's procedure for intestinal malrotation within 72 hours of the initial surgery. Topics include the uncommon occurrence of midgut volvulus at this age, the prompt recurrence after the emergent Ladd's procedure, and a brief literature review on modifications to Ladd's procedure and alternative techniques to reduce the risk of recurrence.

Background: Prestin, encoded by the gene SLC26A5, is a transmembrane protein of the cochlear outer hair cell (OHC). Prestin is required for the somatic electromotile activity of OHCs, which is absent in OHCs and causes severe hearing impairment in mice lacking prestin. In humans, the role of sequence variations in SLC26A5 in hearing loss is less clear. Although prestin is expected to be required for functional human OHCs, the clinical significance of reported putative mutant alleles in humans is uncertain. Methodology/Principal Findings: To explore the hypothesis that SLC26A5 may act as a modifier gene, affecting the severity of hearing loss caused by an independent etiology, a patient-control cohort was screened for DNA sequence variations in SLC26A5 using sequencing and allele specific methods. Patients in this study carried known pathogenic or controversial sequence variations in GJB2, encoding Connexin 26, or confirmed or suspected sequence variations in SLC26A5; controls included four ethnic populations. Twenty-three different DNA sequence variations in SLC26A5, 14 of which are novel, were observed: 4 novel sequence variations were found exclusively among patients; 7 novel sequence variations were found exclusively among controls; and, 12 sequence variations, 3 of which are novel, were found in both patients and controls. Twenty-one of the 23 DNA sequence variations were located in non-coding regions of SLC26A5. Two coding sequence variations, both novel, were observed only in patients and predict a silent change, p.S434S, and an amino acid substitution, p.I663V. In silico analysis of the p.I663V amino acid variation suggested this variant might be benign. Using Fisher's exact test, no statistically significant difference was observed between patients and controls in the frequency of the identified DNA sequence variations. Haplotype analysis using HaploView 4.0 software revealed the same predominant haplotype in patients and controls and derived haplotype blocks in the patient-control cohort similar to those generated from the International HapMap Project. Conclusions/Significance: Although these data fail to support a hypothesis that SLC26A5 acts as a modifier gene of GJB2-related hearing loss, the sample size is small and investigation of a larger population might be more informative. The 14 novel DNA sequence variations in SLC26A5 reported here will serve as useful research tools for future studies of prestin. [ABSTRACT FROM AUTHOR]

Leiomyomas are benign smooth-muscle tumors that have only rarely been reported in the head and neck. Extensive calcification (mummification) is occasionally seen in deep somatic soft-tissue leiomyomas, which represent a rare subtype. We describe a case of mummified leiomyoma of the soft tissues of the midline anterior neck in a 31-year-old man. His tumor was successfully managed with surgical excision. To the best of our knowledge, this case represents the only description of a mummified leiomyoma at this particular site and the first reported case of any leiomyoma at this site in more than 50 years. We also review the literature concerning leiomyomas of the head and neck, their subtypes, diagnostic and management considerations, and outcomes. [ABSTRACT FROM AUTHOR]

Background: Previous literature demonstrates correlations between comorbidities and failure to complete adjuvant chemotherapy. Frailty and socioeconomic disparities have also been implicated in affecting cancer treatment outcomes. This study examines the effect of demographics, comorbidities, frailty, and socioeconomic status on chemotherapy completion rates in colorectal cancer patients. Methods: This was an observational case-control study using retrospective data from Stage II and III colorectal cancer patients offered chemotherapy between January 01, 2013 and January 01, 2018. Data was obtained using the cancer registry, supplemented with chart review. Patients were divided based on treatment completion and compared with respect to comorbidities, age, Eastern Cooperative Oncology Group (ECOG) score, and insurance status using univariate and multivariate analyses. Results: 228 patients were identified: 53 Stage II and 175 Stage III. Of these, 24.5% of Stage II and 30.3% of Stage III patients did not complete chemotherapy. Neither ECOG status nor any comorbidity predicted failure to complete treatment. Those failing to complete chemotherapy were older (64.4 vs 60.8 years, P =.043). Additionally, those with public assistance or self-pay were less likely to complete chemotherapy than those with private insurance (P =.049). Both factors (older age/insurance status) remained significant on multivariate analysis (increasing age at diagnosis: OR 1.03, P =.034; public insurance: OR 1.84, P =.07; and self-pay status: OR 4.49, P =.03). Conclusions: No comorbidity was associated with failure to complete therapy, nor was frailty, as assessed by ECOG score. Though frailty was not significant, increasing age was, possibly reflecting negative attitudes toward chemotherapy in older populations. Insurance status also predicted failure to complete treatment, suggesting disparities in access to treatment, affected by socioeconomic factors. [ABSTRACT FROM AUTHOR]

Educational Objectives: • At the conclusion of this presentation, the participants should be able to: • Understand potential mechanisms for the pathophysiology of pneumocochlea • Discuss the epidemiology and etiology of pneumolabyrinth and pneumocochlea • Explain how outcomes vary with degree of hearing loss and type of intervention Objectives: Pneumolabyrinth and pneumocochlea are characterized by the presence of air within the inner ear and fewer than forty cases are reported in the literature. There is little information on the etiology, epidemiology, and associated physical exam and radiologic findings in these patients. This summary of published cases of pneumolabyrinth with or without pneumocochlea presents this information along with a new case of isolated pneumocochlea. Study Design: Case report with literature review Methods: A review of the literature examined all papers on Pubmed under the search terms "pneumocochlea" and "pneumolabyrinth". The references of these papers were also examined for any other cases that might have been overlooked with the initial survey and any additional case reports thus identified were also included. Results: Including the current report, a total of thirty-two cases are reviewed. Among the cases with information available, over seventy percent were male. Eighty percent were post-traumatic, the remainder iatrogenic. Patients have various degrees of hearing loss and generally severe vertigo. Isolated pneumocochlea may present without vertigo. Vestibular improvement is nearly universal. Recovery of hearing was greatest among patients with the smallest degree of loss, and was non-existent among those with profound loss, regardless of intervention. Conclusion: Management decisions should be made in regard to the degree of hearing loss and associated injuries. Prognosis appears to vary with degree of hearing loss. [ABSTRACT FROM AUTHOR]