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The frequency of the pathogenic allele of the autosomal recessive deafness gene GJB2 varies among different populations in the world, and accumulates to a sufficiently high frequency in certain population. The purpose of this study is to investigate the origin and evolution of GJB2 pathogenic alleles in Chinese deaf patients. Children with non-syndromic hearing loss, and their parents, from 295 families were recruited. Customized capture probes targeted at 943 single nucleotide polymorphisms (SNPs) related to GJB2 gene were designed for sequencing of genomic DNA in blood samples. Haplotypes carrying pathogenic allele were analyzed through linkage disequilibrium block building, ancestry tracing, and extended haplotype heterozygosity calculation. Two pathogenic GJB2 alleles, c.235delC (18.41%) and c.109G > A (15.57%), were observed in 867 donors. For c.235delC allele, three different core haplotypes with one major haplotype (97.32%) were found, and their core SNPs were 100% conserved. For c.109G > A allele, six different haplotypes with one major haplotype (93.28%) were found and the major c.109G > A allele evolved from a specific ancestral haplotype. Geographical origins of donors carrying GJB2 c.109G > A and c.235delC core haplotypes centered between Qinghai and Neimenggu. GJB2 c.235delC has long-range linkage disequilibrium. No positive selection signature was found for GJB2 c.235delC or c.109G > A in the studied population. In conclusion, we discovered a single origin of GJB2 c.235delC allele and multiple independent origins of GJB2 c.109G > A allele. Alternative to positive selection or multiple independent recurrent mutation event, population bottleneck effect might account for the observed high population frequency of these pathogenic alleles.

This cross-sectional study aimed to identify homogenous groups of agricultural producers and stakeholders based on their perceptions of effectiveness and use of COVID-19 protective behaviors.

We conducted an online survey of agricultural producers and stakeholders through Qualtrics. Participants responded to 7 statements about COVID-19 protective behavior effectiveness and 7 statements about participation in COVID-19 protective behaviors in the previous 2 weeks. These statements included handwashing, disinfecting, refraining from touching one's face, covering one's face when coughing/sneezing, staying at home, social distancing, and wearing a face mask. Additional survey sections included demographics and health history. We performed separate latent class analysis (LCA) to identify clusters of agricultural producers' and stakeholders' perceptions and participation in COVID-19-related protective behaviors based on their pattern of responses.

Based on LCA, participants were distributed as universal believ demographic and health characteristics. Public health campaigns that increase or maintain motivation to comply with protective behaviors should be developed and implemented specific for agricultural populations.

Vaccination has been shown to be highly effective in preventing death and severe disease from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Currently, few studies have directly compared vaccinated and unvaccinated patients with severe COVID-19 in the intensive care unit (ICU).

To compare the clinical characteristics and outcomes of vaccine recipients and unvaccinated patients with SARS-CoV-2 infection admitted to the ICU in a nationwide setting.

Data were extracted from the Short PeRiod IncideNce sTudy of Severe Acute Respiratory Infection Australia, in 57 ICU during Delta and Omicron predominant periods of the COVID-19 pandemic. The primary outcome was inhospital mortality. Secondary outcomes included duration of mechanical ventilation, ICU length of stay, hospital length of stay and ICU mortality.

There were 2970 patients admitted to ICU across participating sites from 26 June 2021 to 8 February 2022; 1134 (38.2%) patients were vaccine recipients, and 1836 (61.8%) patients were unvaccinated. 5-Azacytidine Vaccine recipients were older, more comorbid and less likely to require organ support. Unadjusted inhospital mortality was greater in the vaccinated cohort. After adjusting for age, gender and comorbid status, no statistically significant association between inhospital or ICU mortality, and vaccination status, was apparent.

We found COVID-19 infection can cause severe disease and death in vaccine recipients, though comorbid status and older age were significant contributors to mortality. Organ support requirements and the number of deaths were highest in the unvaccinated cohort.

We found COVID-19 infection can cause severe disease and death in vaccine recipients, though comorbid status and older age were significant contributors to mortality. Organ support requirements and the number of deaths were highest in the unvaccinated cohort.A teenage girl with phototype IV skin presented with extensive gradually progressing asymptomatic macular hyperpigmentation not responding to topical steroids for several months. Histopathology showed foci of increased numbers of melanophages and melanin in the dermis. Click here for the corresponding questions to this CME article.Information learned in relation to oneself is typically better remembered, termed the self-reference effect (SRE). This study aimed to elucidate the developmental trajectory of the SRE in recollection and source memory from mid-childhood to young adulthood. In 2018-2019 in Baltimore, Maryland, 136 seven- to thirty-year-olds (77 female; approximately 80% White, 15% Asian American, 5% Black) viewed objects on one of two backgrounds and answered a self-referential or semantic question for each. A recognition test probed memory for objects and source details (inherent question type; peripheral background image). SRE increased with age for detailed recollection (r = .189), but not familiarity, and extended to inherent source memory. This suggests that self-referencing promotes richer memory in children and develops into young adulthood.KP167 is a novel hypoxia-activated prodrug (HAP), targeting cancer cells via DNA intercalating and alkylating properties. The single agent and radiosensitizing efficacy of KP167 and its parental comparator, AQ4N, were evaluated in 2D and 3D cultures of luminal and triple negative breast cancer (TNBC) cell lines and compared against DNA damage repair inhibitors. 2D normoxic treatment with the DNA repair inhibitors, Olaparib or KU-55933 caused, as expected, substantial radiosensitization (sensitiser enhancement ratio, SER0.01 of 1.60-3.42). KP167 induced greater radiosensitization in TNBC (SER0.01 2.53 in MDAMB-231, 2.28 in MDAMB-468, 4.55 in MDAMB-436) and luminal spheroids (SER0.01 1.46 in MCF-7 and 1.76 in T47D cells) compared with AQ4N. Significant radiosensitization was also obtained using KP167 and AQ4N in 2D normoxia. Although hypoxia induced radioresistance, radiosensitization by KP167 was still greater under 2D hypoxia, yielding SER0.01 of 1.56-2.37 compared with AQ4N SER0.01 of 1.13-1.94. Such data show KP167 as a promising single agent and potent radiosensitiser of both normoxic and hypoxic breast cancer cells, with greater efficacy in TNBCs.

We are pleased to introduce this special issue about Autism and Feeding and Eating Disorders, representing reflections on this complex comorbidity.

Contributions focussed on several main themes (1) the definition and assessment of autism and eating disorder (ED) comorbidity; (2) the brain imaging findings of similarities and differences between autism and EDs; (3) sensory systems and interoception; (4) comorbidity across the age spectrum and (5) improving treatment outcomes in ED and autism comorbidity.

The papers in this issue highlight the importance of research, screening and practical adaptations in the field of ED and autism comorbidity. Autism is a neurodevelopmental condition with several strengths and weaknesses. When patients present with this comorbidity, it is important that their ED is treated which requires careful adaptation and tailoring for people with autism.

This special issue is an attempt to facilitate further research and stimulate collaborations between all of the stakeholders, particularly clinicians who have expertise in autism and clinicians working in the field of ED. We have included diverse themes from international researchers conducting qualitative and quantitative studies, providing research evidence to inform treatment modifications for this complex comorbidity.

This special issue is an attempt to facilitate further research and stimulate collaborations between all of the stakeholders, particularly clinicians who have expertise in autism and clinicians working in the field of ED. We have included diverse themes from international researchers conducting qualitative and quantitative studies, providing research evidence to inform treatment modifications for this complex comorbidity.

Concerns about the impact of the new donor heart allocation system on posttransplant outcomes have emerged after its implementation. We sought to evaluate the characteristics and outcomes of left ventricular assist device (LVAD) recipients transplanted before and after the implantation of the new policy on October 18, 2018.

Data on bridge to transplantation of adult patients with LVAD between January 2015 and October 2021, with durable LVAD as a (BTT), was queried from the United Network of Organ Sharing (UNOS) registry. The main outcomes were 30-day all-cause mortality, 30-day fatal graft failure, 1-year all-cause mortality, treated acute rejection at 1 year and renal replacement therapy (RRT) for acute renal failure.

In our study, 7096 patients met the inclusion criteria including 2435 in the new allocation system. The transplanted patients in the new allocation system era had older donor age, longer ischemic time, and higher proportion of newer generation LVADs. Adjusted 30-day all-cause mortality wath the implementation of the new allocation system and this finding is related to the use of newer generation continuous flow LVADs.

The hospital mortality of patients suffering from pulmonary failure requiring venovenous extracorporeal membrane oxygenation (V-V ECMO) or extracorporeal carbon dioxide removal (ECCO

R) is high. It is unclear whether outcome correlates with a hospital's annual procedural volume.

Data on all V-V ECMO and ECCO

R cases treated from 2007 to 2019 were retrieved from the German Institute for Medical Documentation and Information. Comorbidities and outcomes were assessed by DRG, OPS, and ICD codes. The study population was divided into 5 groups depending on annual hospital V-V ECMO and ECCO

R volumes (<10 cases; 10-19 cases; 20-29 cases; 30-49 cases; ≥50 cases). Primary outcome was hospital mortality.

A total of 25 096 V-V ECMO and 3607 ECCO

R cases were analyzed. V-V ECMO hospitals increased from 89 in 2007 to 214 in 2019. Hospitals handling <10 cases annually increased especially (64 in 2007 to 149 in 2019). V-V ECMO cases rose from 807 in 2007 to 2597 in 2019. Over 50% of cases were treated in hospitals handling ≥30 cases annually. Hospital mortality was independent of the annual hospital procedural volume (55.3%; 61.3%; 59.8%; 60.2%; 56.3%, respectively, p=0.287). We detected no differences when comparing hospitals handling <30 cases to those with ≥30 annually (p=0.659). The numbers of ECCO

R hospitals and cases has dropped since 2011 (287 in 2007 to 48 in 2019). No correlation between annual hospital procedural volume and hospital mortality was identified (p=0.914).

The number of hospitals treating patients requiring V-V ECMO and V-V ECMO cases rose from 2007 to 2019, while ECCO

R hospitals and their case numbers decreased. We detected no correlation between annual hospital V-V ECMO or ECCO

R volume and hospital mortality.

The number of hospitals treating patients requiring V-V ECMO and V-V ECMO cases rose from 2007 to 2019, while ECCO2 R hospitals and their case numbers decreased. We detected no correlation between annual hospital V-V ECMO or ECCO2 R volume and hospital mortality.