BackgroundAlveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by heterozygous point mutations or genomic deletions involving FOXF1 or its 60-kb tissue-specific enhancer region mapping 270 kb upstream of FOXF1 and involving fetal lung-expressed long non-coding RNA genes and CpG-enriched sites. Recently, we have proposed that the FOXF1 locus at 16q24.1 may be a subject of genomic imprinting.FindingsUsing custom-designed aCGH and Sanger sequencing, we have identified a novel de novo 104 kb genomic deletion upstream of FOXF1 in a patient with histopathologically verified full phenotype of ACDMPV. This deletion allowed us to further narrow the FOXF1 enhancer region and identify its critical 15-kb core interval, essential for lung development. This interval harbors binding sites for lung-expressed transcription factors, including GATA3, ESR1, and YY1, and is flanked by the lncRNA genes and CpG islands. Bisulfite sequencing of one of these CpG islands on the non-deleted allele showed that it is predominantly methylated on the maternal chromosome 16.ConclusionsSubstantial narrowing and bisulfite sequencing of the FOXF1 enhancer region on 16q24.1 provided new insights into its regulatory function and genomic imprinting.Electronic supplementary materialThe online version of this article (doi:10.1186/s13148-016-0278-2) contains supplementary material, which is available to authorized users.

The 2019 novel coronavirus disease (COVID-19) has spread worldwide, infiltrating, infecting, and devastating communities in all locations of varying demographics. An overwhelming majority of published literature on the pathologic findings associated with COVID-19 is either from living clinical cohorts or from autopsy findings of those who died in a medical care setting, which can confound pure disease pathology. A relatively low initial infection rate paired with a high biosafety level enabled the New Mexico Office of the Medical Investigator to conduct full autopsy examinations on suspected COVID-19–related deaths. Full autopsy examination on the first 20 severe acute respiratory syndrome coronavirus 2–positive decedents revealed that some extent of diffuse alveolar damage in every death due to COVID-19 played some role. The average decedent was middle-aged, male, American Indian, and overweight with comorbidities that included diabetes, ethanolism, and atherosclerotic and/or hypertensive cardiovascular disease. Macroscopic thrombotic events were seen in 35% of cases consisting of pulmonary thromboemboli and coronary artery thrombi. In 2 cases, severe bacterial coinfections were seen in the lungs. Those determined to die with but not of severe acute respiratory syndrome coronavirus 2 infection had unremarkable lung findings.

New Mexico's oil and natural gas industry has the second highest occupational fatality rate among oil and gas workers in the nation. There is currently limited data available regarding the top contributing factors to occupational mortality specific to the state's oil and gas industry. This study seeks to understand causes of mortality among oil and gas workers in New Mexico between 2008 and 2018. To facilitate this study, case reports were obtained from the New Mexico Office of the Medical Investigator, and population data was acquired from the US Department of Labor. In this 11-year span, there were 73 cases, with an average annual mortality rate of 37 deaths per 100,000 oil and gas workers. Leading causes of death were vehicle accidents (36%), cardiovascular incidents (22%), and crush injuries (19%). The majority of vehicle accidents involved single vehicle accidents, and correct seat belt use was only documented 23% of the time. The majority of cardiovascular deaths were due to arteriosclerotic and atherosclerotic cardiovascular disease. Alcohol was present in 18% of cases, and drugs were present in 19% of cases with methamphetamine present in 10% of investigated deaths. This is the first study to directly include cardiovascular incidents in the leading causes of death; otherwise, this study reflects national data reporting vehicle accidents and crush injuries as the leading causes of death. Going forward, prevention measures should effectively target safe driving practices focusing on seatbelt use, and mitigation of workplace drug and alcohol consumption.

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Introduction: Albuquerque New Mexico is the "hot air balloon capital of the world," with balloons flying throughout the year and during the Albuquerque International Balloon Fiesta. The medical literature regarding morbidity and mortality in hot air balloon accidents is relatively scarce.Methods: A series of fatal, hot air balloon accidents were identified by querying and analyzing the databases of the Office of the Medical Investigator in New Mexico from 1972 to 2021.Results: Twenty-one lethal cases from 11 hot air balloon accidents were evaluated. Fifty-seven percent of decedents were male, the age range was 29 to 74 years, and all the decedents were White. Causes of death were certified as multiple injuries (52.4%), blunt trauma (42.9%), and electrocution (4.76%). The manner of death was accidental in all cases. Most common autopsy findings were rib fractures (100%), pelvic fractures (81.8%), and subarachnoid hemorrhage (72.7%). October was the month with the most accidents (63.63%), the most common cause was the pilot's failure to maintain clearance from obstacles (14.3%), and the most frequent collision was with power lines (63.6%).Conclusions: Hot air balloon fatalities are rare, and the patterns of injury resemble those seen in free falls from significant heights with extensive blunt trauma.