bluuebunny/crossref_metadata_2025_split huggingface dataset:
Causes of death among Federal Black Lung Benefits Program beneficiaries enrolled in Medicare, 1999–2016
Authors: Kurth Laura , Halldin Cara , Laney A. Scott , Blackley David J. 
Published: September 2020

AbstractBackgroundCoal miners with totally disabling pneumoconiosis are eligible for benefits through the Federal Black Lung Benefits Program (FBLP). We identify the causes of death among Medicare beneficiaries with a claim for which the FBLP was the primary payer and compare these causes of death to all deceased Medicare beneficiaries to better understand elevated death and disease among miners with occupational respiratory exposures.MethodsFrom 1999 to 2016 Medicare data, we extracted beneficiary and National Death Index data for 28,003 beneficiaries with an FBLP primary payer claim. We summarized the International Classification of Diseases, Clinical Modification 10th revision‐coded underlying causes of death and entity‐axis multiple causes of death for 22,242 deceased Medicare beneficiaries with an FBLP primary payer Medicare claim and compared their causes of death to the deceased Medicare beneficiary population.ResultsAmong deceased FBLP beneficiaries, the three leading underlying causes of death were chronic obstructive pulmonary disease, unspecified (J44.9, 10.1%), atherosclerotic heart disease (I25.1, 9.3%), and coal workers' pneumoconiosis (CWP) (J60, 9.2%). All diseases of the respiratory system combined (J00–J99) were the underlying cause of death for 29.1% of all beneficiaries, with pneumoconioses (J60–J64) as the underlying cause for 11.0% of all beneficiaries.ConclusionsCoal miners enrolled in Medicare with an FBLP primary payer claim were more likely to have specific respiratory and cardiovascular diseases listed as a cause of death than deceased Medicare beneficiaries overall, and were also more likely to die from CWP or any pneumoconioses.
Uninvestigated fatal workplace injuries in the United States
Authors: Boggess Bethany , Pompeii Lisa 
Published: September 2020

AbstractBackgroundApproximately 5000 people are killed by an injury at work every year, but the U.S. Occupational Safety and Health Administration (OSHA) only investigates 25%–35% of these deaths. The aim of this study was to identify industry, geographic, and worker demographic disparities in the proportion of fatal workplace injuries that are investigated by OSHA.MethodsThis cross‐sectional analysis drew from 2 years of public data (2014–2015) from the Census of Fatal Occupational Injuries and investigation data from OSHA. Differences by worker age and sex, geographic region, industry, and State Plan‐ versus Federal Plan‐state were examined.ResultsNationally, OSHA investigated about one in four (27.5%) of the 9657 fatal workplace injuries that occurred. Higher odds of uninvestigated fatalities were observed for female workers compared to male workers (odds ratio, 2.35; 95% confidence interval, 1.89, 2.93), for workers over age 65 compared to those aged 18–24 (3.05; 2.44, 3.82), for worker deaths occurring in State Plan states compared to Federal Plan states (1.64; 1.49, 1.79), among other differences.ConclusionsAlthough some of the disparities could be explained by OSHA jurisdiction restrictions, other areas of potential reform were identified, such as investigating a greater number of workplace violence deaths and increasing focus in industries with a low proportion of investigations but a high number of fatalities, such as transportation and warehousing. Consideration should be given to adapt policies, expand OSHA jurisdiction, and to increase OSHA resources for conducting both fatality investigations and proactive investigations that can identify and abate hazards before a worker is injured.
Prevalence rates study of selected isolatednon‐Mendeliancongenital anomalies in the Hutterite population of Alberta, 1980–2016
Authors: Lowry R. Brian , Bedard Tanya , Crawford Susan , Grevers Xin , Bernier François P. , Thomas Mary Ann 
Published: September 2020

AbstractA study of the prevalence rates for selected isolated non‐Mendelian congenital anomalies in the Hutterite Brethren of Alberta, Canada was undertaken to further examine longitudinal data in this isolated community that was last reported in 1985 (Lowry et al., 1985), although there are numerous publications on recessive disorders (Boycott et al., 2008; Triggs‐Raine et al., 2016). Cases were ascertained from the Alberta Congenital Anomaly Surveillance System for the years 1997–2016. Since our initial results showed some surprising findings in the Hutterite Brethren, such as zero cases of spina bifida, cleft lip and palate, gastroschisis, and omphalocele, and a significant excess of cases with hypospadias, we extended the study to prior years (1980–1996) for selected anomalies. For the extended study period (1980–2016), there was a significant increased prevalence of hypospadias, tetralogy of Fallot and tricuspid atresia in the Hutterite population, and although not statistically significant, zero cases of cleft lip with cleft palate, gastroschisis and omphalocele were confirmed. Further research is needed to determine the precise effects of rural environmental exposures, lifestyle factors, and genetic associations for selected multifactorial congenital anomalies.
Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B” mimicking Escobar variant multiple pterygium syndrome
Authors: Hakonen Anna H. , Lehtonen Johanna , Kivirikko Sirpa , Keski‐Filppula Riikka , Moilanen Jukka , Kivisaari Reetta , Almusa Henrikki , Jakkula Eveliina , Saarela Janna , Avela Kristiina , Aittomäki Kristiina 
Published: September 2020

ABSTRACTThe multiple pterygium syndromes (MPS) are rare disorders with disease severity ranging from lethal to milder forms. The nonlethal Escobar variant MPS (EVMPS) is characterized by multiple pterygia and arthrogryposis, as well as various additional features including congenital anomalies. The genetic etiology of EVMPS is heterogeneous and the diagnosis has been based either on the detection of pathogenic CHRNG variants (~23% of patients), or suggestive clinical features. We describe four patients with a clinical suspicion of EVMPS who manifested with multiple pterygia, mild flexion contractures of several joints, and vertebral anomalies. We revealed recessively inherited MYH3 variants as the underlying cause in all patients: two novel variants, c.1053C>G, p.(Tyr351Ter) and c.3102+5G>C, as compound heterozygous with the hypomorphic MYH3 variant c.‐9+1G>A. Recessive MYH3 variants have been previously associated with spondylocarpotarsal synostosis syndrome. Our findings now highlight multiple pterygia as an important feature in patients with recessive MYH3 variants. Based on all patients with recessive MYH3 variants reported up to date, we consider that this disease entity should be designated as “Contractures, pterygia, and variable skeletal fusions syndrome 1B,” as recently suggested by OMIM. Our findings underline the importance of analyzing MYH3 in the differential diagnosis of EVMPS, particularly as the hypomorphic MYH3 variant might remain undetected by routine exome sequencing.
The first reported case of Loeys‐Dietz syndrome in a patient with biallelic SMAD3 variants
Authors: Baskin Stephanie M. , Morris Shaine A. , Vara Autumn , Hecht Jacqueline T. , Farach Laura S. 
Published: September 2020

AbstractLoeys‐Dietz syndrome (LDS), a connective tissue disorder characterized by its vascular, skeletal, craniofacial, and cutaneous manifestations is caused by mutations in one of six genes (TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, and TGFB3). Until recently, all reported cases of LDS have been attributed to heterozygous pathogenic variants in these genes. Here, we report the first case of Loeys‐Dietz syndrome due to SMAD3 biallelic likely pathogenic variants in a 15‐year‐old male with classic Loeys‐Dietz features, including dysmorphic facial features, significant scoliosis, and pectus excavatum, arachnodactyly, severe aortic root dilation, and diffuse arterial tortuosity. His parents are each heterozygous for the likely pathogenic variant and are more mildly affected. To our knowledge, this represents the first reported case of biallelic SMAD3‐related Loeys‐Dietz syndrome and the third case in the literature of biallelic LDS, indicating that there are multiple genetic modes of inheritance underlying this disorder.
Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability
Authors: Wu Dengchang , Ji Caihong , Chen Zhongqin , Wang Kang 
Published: September 2020

AbstractWe identified a novel nonsense de novo pathogenic variant of the NEXMIF gene in a 29 year‐old female patient with refractory epilepsy and mild intellectual disability. The patient presented with episodic atypical absence status (AS), the longest duration of her seizures was approximately 36 hr. She also had occasional eyelid myoclonia during absence seizure. EEG highlighted a photosensitivity phenomenon and generalized epileptiform discharges that were induced by eye closure. Whole exome sequencing revealed a novel nonsense pathogenic variant c.1063delC (p.L355*) in exon 3 of the NEXMIF gene. The mRNA expression of NEXMIF in this female patient was below −2 SD from the mean of control group. In addition to adding a novel pathogenic variant type to the NEXMIF variant database and conducting mRNA studies, this report also describes a unique phenotype in a patient with atypical AS associated with a NEXMIF variant. We discuss implications for medication management in similar patients.
Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability
Authors: Chacon‐Camacho Oscar F. , Arce‐Gonzalez Rocio , Ordaz‐Robles Thania , Perezpeña‐Diazconti Mario , Nava‐Castañeda Angel , Zenteno Juan Carlos 
Published: September 2020

AbstractHereditary mucoepithelial dysplasia (HMD) is an uncommon autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non‐scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and involvement of the conjunctival mucosa. To date, 20 familial or sporadic HMD cases have been described, most of them originating from Caucasian ethnic groups. In this study, a novel HMD pedigree, including an affected father and his daughter, is reported. Clinical expression showed significant differences in affected subjects, especially in the distribution and severity of skin lesions. Exome sequencing demonstrated that both affected subjects carried a heterozygous c.1669C>T (p.Arg557Cys) pathogenic variant in the SREBF1 gene. Our results improve the knowledge of the clinical and genetic features of HMD. In addition, a comparative review of the clinical features of all published HMD cases is presented.
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
Authors: Pillai Nishitha R. , Amin Hitha , Gijavanekar Charul , Liu Ning , Issaq Niveen , Broniowska Katarzyna A. , Bertuch Alison A. , Sutton V. Reid , Elsea Sarah H. , Scaglia Fernando 
Published: September 2020

AbstractRiboflavin transporter deficiency (RTD) (MIM #614707) is a neurogenetic disorder with its most common manifestations including sensorineural hearing loss, peripheral neuropathy, respiratory insufficiency, and bulbar palsy. Here, we present a 2‐year‐old boy whose initial presentation was severe macrocytic anemia necessitating multiple blood transfusions and intermittent neutropenia; he subsequently developed ataxia and dysarthria. Trio‐exome sequencing detected compound heterozygous variants in SLC52A2 that were classified as pathogenic and a variant of uncertain significance. Bone marrow evaluation demonstrated megaloblastic changes. Notably, his anemia and neutropenia resolved after treatment with oral riboflavin, thus expanding the clinical phenotype of this disorder. We reiterate the importance of starting riboflavin supplementation in a young child who presents with macrocytic anemia and neurological features while awaiting biochemical and genetic work up. We detected multiple biochemical abnormalities with the help of untargeted metabolomics analysis associated with abnormal flavin adenine nucleotide function which normalized after treatment, emphasizing the reversible pathomechanisms involved in this disorder. The utility of untargeted metabolomics analysis to monitor the effects of riboflavin supplementation in RTD has not been previously reported.
Facile Construction of 3,4‐dihydro‐2H‐1,2,4‐Benzothiadiazine 1,1‐Dioxides via Redox‐Neutral Cascade Condensation/[1,7]‐Hydride Transfer/Cyclization
Authors: Xing Yingying , Dong Fengying , Yin Xiangcong , Wang Liang , Li Shuai‐Shuai 
Published: September 2020

AbstractThe benzothiadiazine 1,1‐dioxides were highly efficiently constructed via a BF3.Et2O promoted redox‐neutral cascade condensation/[1,7]‐hydride transfer/cyclization, which featured novel substrate skeletons, broad substrate scope, [1,7]‐hydride transfer manner, metal‐free conditions and the facile introduction of aryl, heteroaryl, allyl and propargyl groups etc.
Adjunctive techniques to dacryocystorhinostomy: an evidence‐based review with recommendations
Authors: Yim Michael , Wormald Peter‐John , Doucet Manon , Gill Amarbir , Kingdom Todd , Orlandi Richard , Crum Alison , Marx Douglas , Alt Jeremiah 
Published: September 2020

BackgroundMany adjunctive techniques exist for dacryocystorhinostomy (DCR), with varying levels of supportive evidence.MethodsLiterature from PubMed, EMBASE, and Cochrane Databases was reviewed between January 1990 and January 2020 to examine evidence regarding the utility of adjunctive techniques to DCR, including mucosal flap preservation, concurrent septoplasty, stenting, topical mitomycin C (MMC), and 5‐fluorouracil (5‐FU), as well as perioperative antibiotics and steroids. Recommendations were made based on the evidence found.ResultsSeven adjunctive techniques used in DCR were examined. The literature supported concurrent septoplasty when septal deviation is present. Silicone stents are recommended for external DCR approaches. MMC use is optional in external DCR and revision cases. The literature does not support the routine use of silicone stents or MMC in primary endoscopic DCR. Mucosal flap preservation is optional, with evidence showing comparable results with or without utilization. The level of evidence is limited for topical 5‐FU, as well as perioperative antibiotic and steroid use.ConclusionRecommendations for adjunctive techniques to external and endoscopic DCR surgeries can be made based on the current literature. Higher‐level studies are needed to better optimize perioperative approaches to DCR.
36‐month LipiDiDiet multinutrient clinical trial in prodromal Alzheimer's disease
Authors: Soininen Hilkka , Solomon Alina , Visser Pieter Jelle , Hendrix Suzanne B , Blennow Kaj , Kivipelto Miia , Hartmann Tobias ,   the LipiDiDiet clinical study group
Published: September 2020

AbstractIntroductionThe LipiDiDiet trial investigates the effects of the specific multinutrient combination Fortasyn Connect on cognition and related measures in prodromal Alzheimer's disease (AD). Based on previous results we hypothesized that benefits increase with long‐term intervention.MethodsIn this randomized, double‐blind, placebo‐controlled trial, 311 people with prodromal AD were recruited using the International Working Group‐1 criteria and assigned to active product (125 mL once‐a‐day drink) or an isocaloric, same tasting, placebo control drink. Main outcome was change in cognition (Neuropsychological Test Battery [NTB] 5‐item composite). Analyses were by modified intention‐to‐treat, excluding (ie, censoring) data collected after the start of open‐label active product and/or AD medication.ResultsOf the 382 assessed for eligibility, 311 were randomized, of those 162 participants completed the 36‐month study, including 81 with 36‐month data eligible for efficacy analysis. Over 36 months, significant reductions in decline were observed for the NTB 5‐item composite (−60%; between‐group difference 0.212 [95% confidence interval: 0.044 to 0.380]; P = 0.014), Clinical Dementia Rating‐Sum of Boxes (−45%; P = 0.014), memory (−76%; P = 0.008), and brain atrophy measures; small to medium Cohen's d effect size (0.25–0.31) similar to established clinically relevant AD treatment.DiscussionThis multinutrient intervention slowed decline on clinical and other measures related to cognition, function, brain atrophy, and disease progression. These results indicate that intervention benefits increased with long‐term use.
A 30% incidence of renal cysts with varying sizes and densities in biomedical research swine is not associated with renal dysfunction
Authors: Gómez Belinda I. , Little Joshua S. , Leon Alisa J. , Stewart Ian J. , Burmeister David M. 
Published: September 2020

AbstractBackgroundRenal cystic disease arising from various etiologies results in fluid‐filled cavities within the kidneys. Moreover, preexisting renal dysfunction has been shown to exacerbate multiple pathologies. While swine bred for biomedical research are often clinically inspected for illness/parasites, more advanced diagnostics may aid in uncovering underlying renal abnormalities.MethodsComputed tomography was performed in 54 female prepubertal Yorkshire swine to characterize renal cysts; urine and blood chemistry, and histology of cysts were also performed.ResultsDigital reconstruction of right and left kidneys demonstrated that roughly one‐third of the animals (17/54; 31%) had one or more renal cyst. Circulating biomarkers of renal function were not different between animals that had cysts and those that did not. Alternatively, urinary glucose (P = .03) was higher and sodium (P = .07) tended to be lower in animals with cysts compared to animals without, with no differences in protein (P = .14) or potassium (P = .20). Aspiration of cystic fluid was feasible in two animals, which revealed that the cystic fluid urea nitrogen (97.6 ± 28.7 vs 911.3 ± 468.2 mg/dL), potassium (29.8 ± 14.4 vs 148.2 ± 24.85 mmol/L), uric acid (2.55 ± 1.35 vs 11.4 ± 5.65 mg/dL), and creatinine (60.34 ± 17.26 vs 268.99 ± 95.79 mg/dL) were much lower than in the urine. Histology demonstrated a cyst that markedly compresses the adjacent cortex and is lined by a single layer of flattened epithelium, bounded by fibrous connective tissue which extends into the parenchyma. There is tubular atrophy and loss in these areas.ConclusionThis study provides valuable insight for future studies focusing on kidney function in swine bred for biomedical research.
Molekulares maschinelles Lernen: Die Zukunft der Synthesechemie?
Authors: Pflüger Philipp M. , Glorius Frank 
Published: September 2020

AbstractIm letzten Jahrzehnt hat das moderne maschinelle Lernen Einzug in die Synthesechemie gehalten. Einige seit langem bestehende Herausforderungen, wie die computergestützte Syntheseplanung (Computer‐Aided Synthesis Planning, CASP), wurden erfolgreich angegangen, während andere Themen kaum berührt wurden. Dieser Standpunkt‐Beitrag wirft die Frage auf, ob aktuelle Trends langfristig bestehen können, und identifiziert Faktoren, die zu einer (un)produktiven Entwicklung führen werden. Dabei werden die spezifischen Risiken des molekularen maschinellen Lernens (MML) diskutiert. Ferner werden mögliche nachhaltige Entwicklungen, wie erklärbare künstliche Intelligenz (Explainable Artificial Intelligence, ExAI), für die Synthesechemie vorgeschlagen und Chancen für mögliche Neueinsteiger beleuchtet. Generell zielt dieser Standpunkt darauf ab, die wissenschaftliche Gemeinschaft in eine Diskussion über aktuelle wie auch zukünftige Trends zu führen.
Helicity Control of Polymeric Backbones with Alternating cis‐trans Double Bonds in Cyclopolymerized Dipropargyl Amides
Authors: Song Youngjun , Kang Sunyoung , Kang Sangyoon , Lee Yan 
Published: September 2020

AbstractWe report the synthesis of new helical polymeric structures having alternating cis and trans double bonds and chiral amino acid side chains by metathesis cyclopolymerization. The polymer helicity, which is generated by the interaction between fluorenylmethyloxycarbonyl (Fmoc) groups in the side chains, is dramatically affected by solvents. A thorough experimental and theoretical analysis including nuclear magnetic resonance, atomic force microscopy, and density functional theory and molecular mechanics calculations suggests that the helicity of both backbone and side chains are determined by anti‐syn rotation of the carbamate groups and by the different interactions of the Fmoc groups with solvents.
Selective Alkynylallylation of the C−C σ Bond of Cyclopropenes
Authors: Jiang Zeqi , Niu Sheng‐Li , Zeng Qiang , Ouyang Qin , Chen Ying‐Chun , Xiao Qing 
Published: September 2020

AbstractA Pd‐catalyzed regio‐ and stereoselective alkynylallylation of a specific C−C σ bond in cyclopropenes, using allyl propiolates as both allylation and alkynylation reagents, has been achieved for the first time. By merging selective C(sp2)‐C(sp3) bond scission with conjunctive cross‐couplings, this decarboxylative reorganization reaction features fascinating atom and step economy and provides an efficient approach to highly functionalized dienynes from readily available substrates. Without further optimization, gram‐scale products can be easily obtained by such a simple, neutral, and low‐cost catalytic system with high TONs. DFT calculations afford a rationale toward the formation of the products and indicate that the selective insertion of the double bond of cyclopropenes into the C‐Pd bond of ambidentate Pd complex and the subsequent nonclassical β‐C elimination promoted by 1,4‐palladium migration are critical for the success of the reaction.
Synthesis of Discrete CHA Zeolite Nanocrystals without Organic Templates for Selective CO2 Capture
Authors: Debost Maxime , Klar Paul B. , Barrier Nicolas , Clatworthy Edwin B. , Grand Julien , Laine Fabien , Brázda Petr , Palatinus Lukas , Nesterenko Nikolai , Boullay Philippe , Mintova Svetlana 
Published: September 2020

AbstractSmall‐pore zeolites such as chabazite (CHA) are excellent candidates for the selective separation of CO2; however, the current synthesis involves several steps and the use of organic structure‐directing agent (OSDA), increasing their cost and energy requirements. We report the synthesis of small‐pore zeolite crystals (aluminosilicate) with CHA‐type framework structure by direct synthesis in a colloidal suspension containing a mixture of inorganic cations only (Na+, K+, and Cs+). The location of CO2 molecules in the host structure was revealed by 3D electron diffraction (3D ED). The high sorption capacity for CO2 (3.8 mmol g−1 at 121 kPa), structural stability and regenerability of the discreate CHA zeolite nanocrystals is maintained for 10 consecutive cycles without any visible degradation. The CHA zeolite (Si:Al=2) reaches an almost perfect CO2 storage capacity (8 CO2 per unit cell) and high selectivity (no CH4 was adsorbed).
Oxidative Addition of a Mechanically Entrapped C(sp)–C(sp) Bond to a Rhodium(I) Pincer Complex
Authors: Leforestier Baptiste , Gyton Matthew R. , Chaplin Adrian B. 
Published: September 2020

AbstractBy use of a macrocyclic phosphinite pincer ligand and bulky substrate substituents, we demonstrate how the mechanical bond can be leveraged to promote the oxidative addition of an interlocked 1,3‐diyne to a rhodium(I) center. The resulting rhodium(III) bis(alkynyl) product can be trapped out by reaction with carbon monoxide or intercepted through irreversible reaction with dihydrogen, resulting in selective hydrogenolysis of the C−C σ‐bond.