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Few studies have explored mentorship's value in occupational safety and health (OSH) training that focuses on worker empowerment in blue-collar occupations. Through a university and union collaboration, we examined mentorship programs as a promising enhancement to ongoing OSH training to foster worker leadership development in organizations focused on worker empowerment. Union-based worker-trainers from 11 large manufacturing facilities across the United States and worker-trainers affiliated with 11 Latinx Worker Centers in the New York City area were interviewed. Rapid Evaluation and Assessment Methods informed study design. The themes that emerged, reflecting the value of mentorship in OSH training, were: characterizing the elements of mentoring, how mentorship can improve OSH training, and recommended practices for designing a program across two different work settings. We conceptualize the goals of mentorship within a broader social ecological framework, that is, to support OSH learning so workers will advocate for broader safety and health changes with credibility and a feeling of empowerment.

Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The AHDC1 gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in AHDC1 are associated with ID and are primarily associated with a neurodevelopmental phenotype.

Angelman syndrome is often associated with medically refractory epilepsy. Here, we report the case of a young girl with Angelman syndrome who experienced frequent and prolonged atonic seizures associated with dysautonomia and was unresponsive to multiple antiepileptic drugs, but who responded dramatically to the ketogenic diet. Clinicians are encouraged to consider the ketogenic diet early in the treatment course of patients with Angelman syndrome., (Copyright 2010 Elsevier Inc. All rights reserved.)

The attack on the World Trade Center (WTC) on September 11th, 2001 exposed thousands of individuals to an unprecedented mix of chemicals, combustion products and micronized building materials. Clinicians at the Mount Sinai Irving Selikoff Center for Occupational and Environmental Medicine, in partnership with affected stakeholder organizations, developed a medical screening program to evaluate the health status of workers and volunteers who spent time at the WTC site and thus sustained exposure in the aftermath of September 11th. Standardized questionnaires were adapted for use in this unique population and all clinicians underwent training to ensure comparability. The WTC Worker and Volunteer Medical Screening Program (MSP) received federal funding in April 2002 and examinations began in July 2002. The MSP and the follow up medical monitoring program has successfully recruited nearly 22,000 responders, and serves as a model for the rapid development of a medical screening program to assess the health of populations exposed to environmental hazards as a result of natural and man-made disasters. The MSP constitutes a successful screening program for WTC responders. We discuss the challenges that confronted the program; the absence of a prior model for the rapid development of a program to evaluate results from mixed chemical exposures; little documentation of the size of the exposed population or of who might have been exposed; and uncertainty about both the nature and potential severity of immediate and long-term health effects., (Copyright (c) 2008 Mount Sinai School of Medicine)

Studies of long-term health consequences of disasters face unique methodologic challenges. The authors focused on studies of the health of cleanup and recovery workers, who are often poorly enumerated at the outset and difficult to follow over time. Comparison of the experience at the World Trade Center disaster with 4 past incidents of chemical and radiation releases at Seveso, Italy; Bhopal, India; Chernobyl, Ukraine; and Three Mile Island, USA, provided useful contrasts. Each event had methodologic advantages and disadvantages that depended on the nature of the disaster and the availability of records on area residents, and the emergency-response and cleanup protocol. The World Trade Center Worker Monitoring Program has well-defined eligibility criteria but lacks information on the universe of eligible workers to characterize response proportions or the potential for distortion of reported health effects. Nonparticipation may result from lack of interest, lack of awareness of the program, availability of another source of medical care, medical conditions precluding participation, inability to take time off from work, moving out of the area, death, or shift from initially ineligible to eligible status. Some of these considerations suggest selective participation by the sickest individuals, whereas others favor participation by the healthiest. The greatest concern with the validity of inferences regarding elevated health risks relative to external populations is the potential for selective enrollment among those who are affected. If there were a large pool of nonparticipating workers and those who suffered ill health were most motivated to enroll, the rates of disease among participants would be substantially higher than among all those eligible for the program. Future disaster follow-up studies would benefit substantially by having access to accurate estimates of the number of workers and information on the individuals who contributed to the cleanup and recovery effort., (Copyright (c) 2008 Mount Sinai School of Medicine)

Background: Approximately 40,000 rescue and recovery workers were exposed to caustic dust and toxic pollutants following the 11 September 2001 attacks on the World Trade Center (WTC). These workers included traditional first responders, such as firefighters and police, and a diverse population of construction, utility, and public sector workers., Methods: To characterize WTCrelated health effects, the WTC Worker and Volunteer Medical Screening Program was established. This multicenter clinical program provides free standardized examinations to responders. Examinations include medical, mental health, and exposure assessment questionnaires; physical examinations; spirometry; and chest X rays., Results: Of 9,442 responders examined between July 2002 and April 2004, 69% reported new or worsened respiratory symptoms while performing WTC work. Symptoms persisted to the time of examination in 59% of these workers. Among those who had been asymptomatic before September 11, 61% developed respiratory symptoms while performing WTC work. Twenty-eight percent had abnormal spirometry; forced vital capacity (FVC) was low in 21%; and obstruction was present in 5%. Among nonsmokers, 27% had abnormal spirometry compared with 13% in the general U.S. population. Prevalence of low FVC among nonsmokers was 5-fold greater than in the U.S. population (20% vs. 4%). Respiratory symptoms and spirometry abnormalities were significantly associated with early arrival at the site., Conclusion: WTC responders had exposure-related increases in respiratory symptoms and pulmonary function test abnormalities that persisted up to 2.5 years after the attacks. Longterm medical monitoring is required to track persistence of these abnormalities and identify late effects, including possible malignancies. Lessons learned should guide future responses to civil disasters.

JOCD has better potential for healing than adult OCD, but several series have shown up to a 50% failure to heal with nonsurgical techniques. JOCD poses a therapeutic dilemma for the pediatric sports specialist because the healing potential is unpredictable at the disease onset. There are no controlled prospective studies on this condition to accurately gauge the effect of different treatments, or even if treatment affects the natural history of JOCD.