Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect.

Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by PEX gene mutations that commonly present with symptoms of severe hypotonia, epileptic seizures, failure to thrive, hepatomegaly, craniofacial dysmorphisms, and sensorineural hearing loss. This article highlights three patients born with ZSD in Central California. All three patients were born to Mixteco mothers. Patients were genetically analyzed, which revealed mutations that correspond to ZSD. They presented with hypotonia at birth, abnormal hepatic panels, and increased fatty acid levels, findings consistent with Zellweger syndrome (ZS). However, only two of three patients displayed sensorineural hearing loss. Two of the patients failed to survive more than one year of age, which reflects the average life expectancy of an infant presenting with ZS. Observed and recorded cases of ZS in the Mixteco population have been postulated to be related to consanguinity and/or a founder effect. Studies have shown that autosomal recessive diseases are more prevalent in consanguineous populations. Consanguinity has been denied by patient 1 and is unknown for patients 2 and 3. Founder mutations have been implicated in areas with high rates of autosomal recessive diseases. All three of our Mixteco patients share a distinct lineage as well as a mutation at PEX6, leading us to believe that they suffered from an inherited founder mutation. The Mixteco population is not studied well enough to come to a definitive conclusion; however, the recognition of the relationship between ZS and Mixteco background is important, as it allows parents to plan accordingly and increases awareness in the community.

Trends of Cancer Screenings, Diagnoses, and Mortalities During the COVID-19 Pandemic: Implications and Future Recommendations.

INTRODUCTION: The impact of the COVID-19 pandemic on cancer screenings and care has yet to be determined. This study aims to investigate the screening, diagnosis, and mortality rates of the top five leading causes of cancer mortality in the United States from 2019 to 2021 to determine the potential impact of the COVID-19 pandemic on cancer care. METHODS: A retrospective cohort study investigating the impact of the COVID-19 pandemic on screening, diagnoses, and mortality rates of the top five leading causes of cancer death (lung/bronchus, colon/rectum, pancreas, breast, and prostate), as determined by the National Institute of Health (NIH) utilizing The United States Healthcare Cost Institute and American Cancer Society databases from 2019 to 2021. RESULTS: Screenings decreased by 24.98% for colorectal cancer and 16.01% for breast cancer from 2019 to 2020. Compared to 2019, there was a .29% increase in lung/bronchus, 19.72% increase in colorectal, 1.46% increase in pancreatic, 2.89% increase in breast, and 144.50% increase in prostate cancer diagnoses in 2020 (all P < .01). There was an increase in the total number of deaths from colorectal, pancreatic, breast, and prostate cancers from 2019 to 2021. CONCLUSION: There was a decrease in the screening rates for breast and colorectal cancer, along with an increase in the estimated incidence and mortality rate among the five leading causes of cancer deaths from 2019 to 2021. The findings suggest that the COVID-19 pandemic is associated with impaired cancer screening, diagnosis, and care, and further emphasizes the need for proactive screening and follow-up to prevent subsequent cancer morbidity and mortality.

Trends in carbon monoxide poisoning deaths in high frequency hurricane states from 2014-19: the need for prevention intervention strategies.

INTRODUCTION: Hurricanes often result in power outages, which increase generator usage and carbon monoxide (CO) deaths. We aim to identify states with the highest frequency of hurricanes and evaluate the number of unintentional CO poisoning deaths by region, age, race and metropolitan distribution. METHODS: The number of hurricanes was determined using the FEMA database, and the number of unintentional CO poisoning deaths was determined using the CDC WONDER database from 2014-19. Hurricane-associated consumer outages were obtained from the Department of Energy. RESULTS: The number of unintentional CO poisoning deaths was as follows: Florida, South Carolina, North Carolina, Georgia and Alabama. Adults displayed a significantly higher number of unintentional CO poisoning deaths than pediatrics (P < 0.001). The total number of unintentional CO poisoning deaths was highest in the White population (P < 0.001); however, unintentional CO poisoning death rates were nearly two times higher among Black population in adults (0.5 versus 0.3) and pediatrics (0.2 versus 0.1). Medium metropolitan areas exhibited significantly more unintentional CO poisoning deaths (P < 0.001). CONCLUSIONS: Hurricanes and unintentional CO poisoning deaths were most common in Florida. Death rates were higher among Black individuals. Medium metropolitan areas displayed significantly more unintentional CO poisoning deaths than all other areas.

Nationwide Analysis of Biomechanics of Motor Vehicle Collisions Involving Passenger Vehicle and Associated Outcomes: Towards Improving Vehicle Safety Standards and Regulations.

BACKGROUND: Motor vehicle collisions (MVCs) pose significant mortality and economic burden on the United States. Biomechanics research may guide future vehicle innovation. The objective of this study is to investigate the biomechanics of two-vehicle MVCs involving passenger vehicle (PV) to evaluate associated injury patterns and outcomes including mortality. METHODS: A retrospective cohort study of cases from the Crash Injury Research Engineering Network database was performed to evaluate the biomechanics (angle of impact, seatbelt use, and airbag deployment) of two-vehicle MVCs involving at least one PV from 2005-2015. RESULTS: Out of 629 MVCs evaluated, lateral collisions were most common (49.5%), followed by head-on (41.3%) and rear-end (9.2%) collisions. Thoracic injuries accounted for 30.1%, 31.4%, and 31.1% of injuries in lateral, head-on, and rear-end collisions, respectively, and were the most common body region injured for all collision types. Seatbelt use was associated with shorter ICU stay (10.9 vs 19.1 days, P = .036) and mortality (Cramer's V = .224, P < .001), but a greater average number of injuries (10.2 injuries vs 8.6 injuries, P = .011). CONCLUSION: Passenger vehicle are commonly involved in MVCs nationwide and efforts are needed to prevent occupant injuries and fatalities. The incorporation of energy-absorbing material into common points of contact within the vehicle interior may decrease the severity of these injuries. Seatbelt use remains a protective factor against MVC-fatalities but is associated with collateral injuries and should be a focus of further innovation.

Analysis of Biomechanics of Motor Vehicle Collisions for Passenger Cars: Implications for Passenger Vehicle Safety and Future Car Design Innovations.

INTRODUCTION: Investigating biomechanics of injury patterns from motor vehicle collisions (MVCs) informs improvements in vehicle safety. This study aims to investigate two-vehicle MVCs involving a passenger car and specific injury patterns associated with sources of injury, collision biomechanics, vehicle properties, and patient outcomes. METHODS: Retrospective cohort study conducted to evaluate the biomechanics of specific injury patterns seen in MVCs involving passenger cars using the Crash Injury Research Engineering Network database between the years 2005 and 2015. RESULTS: A total of 631 MVC cases were included from 2005 to 2015. The majority of cases involved injuries to the head or neck, the thorax, and the abdomen (80.5%). Head/neck injuries from the steering wheel were associated with significantly higher injury severity score compared to those from seatbelts (26.11 versus 18.28, P < 0.001) and airbags (26.11 versus 20.10, P = 0.006), as well as a >6-fold higher fatality rate (P = 0.019). Thoracic injuries caused by the center console were twice as likely to be fatal than those caused by the seatbelt (P = 0.09). CONCLUSIONS: Occupants suffering injuries to the head/neck, the thorax, and the abdomen had higher injury severity score and fatality rates compared to other body regions, demonstrating that manufacturing and safety guidelines should focus on minimizing these injury patterns. Head/neck injuries caused by the steering wheel were associated with worse outcomes compared to those caused by seatbelts and airbags, further emphasizing the benefits of these critical safety features. Integration of innovative safety features like center-mounted airbags may improve occupant safety.

A Closer Look at the Rising Epidemic of Mass Shootings in the United States and Its Association With Gun Legislation, Laws, and Sales.

INTRODUCTION: Mass shootings pose a considerable threat to public safety and significantly cost the United States in terms of lives and expenses. The following are the specific aims of this study: (1) to assess US mass shootings, firearm-related sales, laws, and regional differences from 2015 to 2021 and (2) to investigate changes in mass shootings and firearm sales before and during the Coronavirus Disease 2019 pandemic. METHODS: A retrospective review was conducted of mass shootings, gun sales, and laws regarding the minimum age required to purchase a firearm within the United States from 2015 to 2021. The 10 states/regions with the greatest mean mass shootings/capita from 2015 to 2021 were selected for further analysis. RESULTS: Mass shootings correlated significantly with firearm sales from 2015 to 2021 nationwide (P < 0.02 for all). The growth in mass shootings, the number killed/injured, and gun sales were greater in 2020 and 2021 compared to the years prior. The 10 states with the highest mean mass shooting/capita over the study period were Alabama, Arkansas, the District of Columbia, Illinois, Louisiana, Maryland, Mississippi, Missouri, South Carolina, and Tennessee. No significant correlation was found between the number of mass shootings/capita and the minimum age to purchase a firearm. CONCLUSIONS: Firearm sales correlated significantly with mass shootings from 2015 to 2021. Mass shootings and gun sales increased at greater rates during the Coronavirus Disease 2019 pandemic compared to the years before the pandemic. Mass shootings exhibited inconsistent trends with state gun laws regarding the minimum age to purchase a firearm. Future studies may consider investigating the methods by which firearms used in mass shootings are obtained to further identify targets for prevention.

Nationwide analysis of proximity of American College of Surgeons-verified and state-designated trauma centers to the nearest highway exit and associated prehospital motor vehicle collision fatalities.

BACKGROUND: Motor vehicle collisions remain a leading cause of trauma-related deaths. We aim to investigate the relationship between the proximity of trauma centers to the nearest highway exit and prehospital motor vehicle collision fatalities at the county level nationwide. METHODS: This was a cross-sectional study evaluating the association between the distance of trauma centers to the nearest highway exit and prehospital motor vehicle collision fatalities between the years 2014 and 2019. Prehospital motor vehicle collision fatalities were obtained from National Highway Traffic Safety Administration. Mapping software was used to determine the distance of trauma center to the nearest highway exit and transport time. Linear regression analysis was performed. RESULTS: A total of 2,019 American College of Surgeons-verified and/or state-designated trauma centers were included (211 Level 1, 356 Level 2, 491 Level 3, and 961 Level 4 trauma centers). Prehospital motor vehicle collision fatalities were positively correlated with the distance of trauma center to the nearest highway exit for counties with trauma centers located ≤5 miles from the nearest highway exit (r = 0.328; P < .001). In the 612 counties with a 10% increase in prehospital motor vehicle collision fatalities from 2014 to 2019, prehospital motor vehicle collision fatalities were also positively correlated with distance to the nearest highway exit (r = 0.302; P < .001). The counties with more dispersed distributions of trauma centers were significantly associated with motor vehicle collision fatalities (Spearman's rank coefficient = 0.456; 95% confidence interval, 0.163-0.675; P = .003). CONCLUSION: Shorter distances between trauma centers and the nearest highway exit are associated with fewer prehospital motor vehicle collision fatalities for counties with trauma centers ≤5 miles of the nearest highway exit. Further enhancement of existing highway infrastructure and standardization of emergency medical services transport protocols are needed to address the burden of prehospital motor vehicle collision fatalities in the United States.