Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 539
Filtrar
1.
Head Neck Pathol ; 18(1): 36, 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38709462

RESUMO

BACKGROUND: To determine the prevalence of HR-HPV in a series of lip SCC from South African patients, using currently accepted HPV-testing methodologies and to define the clinical and histomorphologic features of HPV-associated lip SCC. METHODS: Fifty SCC of lip and 50 control cases were tested for HR-HPV using p16 and HR-HPV DNA PCR. p16-equivocal/positive and HPV DNA PCR-positive SCC were further evaluated for the expression of HPV-16 and HPV-18 mRNA transcripts using reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR) to confirm transcriptionally active HPV. RESULTS: p16 was positive in 22% (n = 11) and equivocal in 4% (n = 2) of the SCC. One p16-positive case showed positivity for both HPV-16 DNA and HPV-16 E6/E7 mRNA transcripts (HPV prevalence rate of 2%). The HPV-positive case was non-keratinizing and occurred in an 80-year-old female. The two p16-equivocal cases were HR-HPV DNA positive and mRNA PCR negative. p16 was found to have a positive predictive value of 9%. CONCLUSION: Findings from our cohort of lip SCC suggest that HR-HPV may have an insignificant role in the pathogenesis of SCC at this site. Due to its low ppv, p16 is insufficient to establish HR-HPV infection in SCC of the lip. The combination of p16 and DNA PCR appears to correlate with the presence of transcriptionally active virus. HPV E6/E7 mRNA detection is the gold standard for identifying HR-HPV. mRNA testing is not widely available in sub-Saharan Africa due to technical and financial constraints; however, the test appears to be of great value in p16-equivocal lip SCC.


Assuntos
Carcinoma de Células Escamosas , Neoplasias Labiais , Infecções por Papillomavirus , Humanos , Feminino , Infecções por Papillomavirus/complicações , África do Sul , Neoplasias Labiais/virologia , Neoplasias Labiais/patologia , Idoso , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Masculino , Carcinoma de Células Escamosas/virologia , Carcinoma de Células Escamosas/patologia , Adulto , Estudos de Coortes , Carcinoma de Células Escamosas de Cabeça e Pescoço/virologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Papillomavirus Humano 16/genética
2.
PLOS Glob Public Health ; 4(5): e0002925, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38713655

RESUMO

The achievement of Universal Health Coverage (UHC) requires equitable access and utilization of healthcare services across all population groups, including men. However, men often face unique barriers that impede their engagement with health systems which are influenced by a myriad of socio-cultural, economic, and systemic factors. Therefore, understanding men's perspectives and experiences is crucial to identifying barriers and facilitators to their healthcare-seeking behaviour under UHC initiatives. This qualitative study sought to explore men's perceptions, experiences, healthcare needs and potential strategies to inform an impartial implementation of Universal Health Coverage (UHC) in Kenya. The study employed a qualitative research design to investigate men's healthcare experiences in 12 counties across Kenya. Thirty focus group discussions involving 296 male participants were conducted. Men were purposively selected and mobilized through the support of health facility-in-charges, public health officers, and community health extension workers. Data was coded according to emergent views and further categorized thematically into three main domains (1) Perspectives and experiences of healthcare access (2) Socio-cultural beliefs and societal expectations (3) Desires and expectations of health systems. Findings revealed complex sociocultural, economic, and health system factors that influenced men's healthcare experiences and needs which included: masculinity norms and gender roles, financial constraints and perceived unaffordability of services, lack of male-friendly and gender-responsive healthcare services, confidentiality concerns, and limited health literacy and awareness about available UHC services. Our study has revealed a disconnect between men's needs and the current healthcare system. The expectations concerning masculinity further exacerbate the problem and exclude men further hindering men's ability to receive appropriate care. This data provides important considerations for the development of comprehensive and gender-transformative approaches challenging harmful masculine norms, pushing for financial risk protection mechanisms and gender-responsive healthcare delivery attuned to the unique needs and preferences of men.

3.
ArXiv ; 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38800658

RESUMO

Automated region of interest detection in histopathological image analysis is a challenging and important topic with tremendous potential impact on clinical practice. The deep-learning methods used in computational pathology may help us to reduce costs and increase the speed and accuracy of cancer diagnosis. We started with the UNC Melanocytic Tumor Dataset cohort that contains 160 hematoxylin and eosin whole-slide images of primary melanomas (86) and nevi (74). We randomly assigned 80% (134) as a training set and built an in-house deep-learning method to allow for classification, at the slide level, of nevi and melanomas. The proposed method performed well on the other 20% (26) test dataset; the accuracy of the slide classification task was 92.3% and our model also performed well in terms of predicting the region of interest annotated by the pathologists, showing excellent performance of our model on melanocytic skin tumors. Even though we tested the experiments on the skin tumor dataset, our work could also be extended to other medical image detection problems to benefit the clinical evaluation and diagnosis of different tumors.

4.
Artigo em Inglês | MEDLINE | ID: mdl-38605242

RESUMO

PURPOSE: To review outcomes of spinopelvic dissociation treated with open lumbopelvic fixation. METHODS: We reviewed all cases of spinopelvic dissociation treated at three Level-I trauma centers with open lumbopelvic fixation, including those with adjunctive percutaneous fixation. We collected demographic data, associated injuries, pre- and postoperative neurologic status, pre- and postoperative kyphosis, and Roy-Camille classification. Outcomes included presence of union, reoperation rates, and complications involving hardware or wound. RESULTS: From an initial cohort of 260 patients with spinopelvic dissociation, forty patients fulfilled inclusion criteria with a median follow-up of 351 days. Ten patients (25%) had a combination of percutaneous iliosacral and open lumbopelvic repair. Average pre- and postoperative kyphosis was 30 degrees and 26 degrees, respectively. Twenty patients (50%) had neurologic deficit preoperatively, and eight (20%) were unknown or unable to be assessed. All patients presenting with bowel or bladder dysfunction (n = 12) underwent laminectomy at time of surgery, with 3 patients (25%) having continued dysfunction at final follow-up. Surgical site infection occurred in four cases (10%) and wound complications in two (5%). All cases (100%) went on to union and five patients (13%) required hardware removal. CONCLUSION: Open lumbopelvic fixation resulted in a high union rate in the treatment of spinopelvic dissociation. Approximately 1 in 6 patients had a wound complication, the majority of which were surgical site infections. Bowel and bladder dysfunction at presentation were common with the majority of cases resolving by final follow-up when spinopelvic dissociation had been treated with decompression and stable fixation.

5.
Neurohospitalist ; 14(2): 182-185, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38666277

RESUMO

A single center had a collaborative, multidisciplinary review to determine how to best implement new acute ischemic stroke trials involving large vessel occlusions. A flow diagram process map was created for clinical decision support. Patients were divided into four groups based upon size of infarct and timing of presentation. The process map, available in the electronic health record (EHR) for clinicians to reference, guides the selection of patients for endovascular therapy with neuroimaging. In addition, the process map offers guidance for discussions with families and patients experiencing large vessel occlusions with both small and large core infarcts. This manuscript describes the process of creating the process map through a multidisciplinary review and discussion, with points of controversy and how these were addressed.

6.
Circ Cardiovasc Qual Outcomes ; 17(4): e010307, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38529631

RESUMO

BACKGROUND: Despite women having fewer traditional risk factors (eg, hypertension, diabetes), strokes are more common in women than men aged ≤45 years. This study examined the contributions of traditional and nontraditional risk factors (eg, migraine, thrombophilia) in the development of strokes among young adults. METHODS: This retrospective case-control study used Colorado's All Payer Claims Database (2012-2019). We identified index stroke events in young adults (aged 18-55 years), matched 1:3 to stroke-free controls, by (1) sex, (2) age±2 years, (3) insurance type, and (4) prestroke period. All traditional and nontraditional risk factors were identified from enrollment until a stroke or proxy-stroke date (defined as the prestroke period). Conditional logistic regression models stratified by sex and age group first assessed the association of stroke with counts of risk factors by type and then computed their individual and aggregated population attributable risks. RESULTS: We included 2618 cases (52% women; 73.3% ischemic strokes) and 7827 controls. Each additional traditional and nontraditional risk factors were associated with an increased risk of stroke in all sex and age groups. In adults aged 18 to 34 years, more strokes were associated with nontraditional (population attributable risk: 31.4% men and 42.7% women) than traditional risk factors (25.3% men and 33.3% women). The contribution of nontraditional risk factors declined with age (19.4% men and 27.9% women aged 45-55 years). The contribution of traditional risk factors peaked among patients aged 35 to 44 years (32.8% men and 39.7% women). Hypertension was the most important traditional risk factor and increased in contribution with age (population attributable risk: 27.8% men and 26.7% women aged 45 to 55 years). Migraine was the most important nontraditional risk factor and decreased in contribution with age (population attributable risk: 20.1% men and 34.5% women aged 18-35 years). CONCLUSIONS: Nontraditional risk factors were as important as traditional risk factors in the development of strokes for both young men and women and have a stronger association with the development of strokes in adults younger than 35 years of age.


Assuntos
Hipertensão , Transtornos de Enxaqueca , Acidente Vascular Cerebral , Masculino , Humanos , Feminino , Adulto Jovem , Adulto , Estudos de Casos e Controles , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/epidemiologia , Fatores de Risco , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Fatores Sexuais
7.
J Neurol Sci ; 459: 122946, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38493733

RESUMO

BACKGROUND: The ability to recognize and address bias is an important communication skill not typically addressed during training. We describe the design of an educational curriculum that aims to identify and change behavior related to diversity, equity, and inclusion (DEI). "DEI at the Bedside" uses the existing infrastructure of bedside teaching and provides a tool to normalize DEI discussions and develop skills to address bias during a neurology inpatient rotation. METHODS: As part of traditional clinical rounds, team members on an inpatient service shared experiences with DEI topics, including bias. The team developed potential responses should they encounter a similar situation in the future. We report the results of our needs assessment and curriculum development to evaluate the feasibility of incorporating a DEI educational curriculum in the neurology inpatient setting. RESULTS: Forty-two DEI experiences were recorded. Medical students were the most frequent discussants (44%). Direction of bias occurred between healthcare team members (33%), against patients (31%), and patients against healthcare team members (28%). Experiences ranged from microaggressions to explicit comments of racism, sexism, and homophobia. CONCLUSIONS: Based on needs assessment data, we developed a DEI educational curriculum for the inpatient neurology setting aimed to improve knowledge and skills related to DEI topics as well as to normalize conversation of DEI in the clinical setting. Additional study will demonstrate whether this initiative translates into measurable and sustained improvement in knowledge of how bias and disparity show up in the clinical setting and behavioral intent to discuss and address them.


Assuntos
Educação Médica , Neurologia , Humanos , Diversidade, Equidade, Inclusão , Pacientes Internados , Comunicação
8.
Am J Hum Biol ; : e24052, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38351667

RESUMO

OBJECTIVES: Previous bioarchaeological analyses of medieval monastic and nonmonastic cemeteries in London revealed evidence of lower risks of mortality, and thus better health, in the monastic settings. However, comparison of the two monastic communities, Bermondsey Abbey and Merton Priory, which adhered to different religious ideals, suggested lower risks of mortality in the former. This study examines patterns of skeletal biomarkers, which reflect developmental stress or inflammation, in an attempt to clarify the possible underlying mechanisms producing apparent health differences in these monastic communities. MATERIALS AND METHODS: This study uses skeletal data on age-at-death, periosteal new bone formation (PNBF), and cribra orbitalia from 558 adults (18 years of age and older) estimated to be male from Bermondsey Abbey and Merton Priory. Biomarker age patterns are assessed via Kaplan-Meier survival analysis and binary logistic regression. Differences in frequencies of biomarkers between the monastic sites are evaluated using Chi-square and hierarchical log-linear analyses. RESULTS: In general, PNBF is positively associated with age, and cribra orbitalia is negatively associated with age. The frequency of PNBF formation is significantly higher and that of cribra orbitalia is significantly lower in Bermondsey Abbey compared with Merton Priory. CONCLUSIONS: The differences in frequencies of these skeletal biomarkers support previous findings suggesting that health conditions were better in Bermondsey Abbey than in Merton Priory. The age patterns of cribra orbitalia suggest that these differences reflect conditions and the greater health-promoting effects of religiosity or isolation from the lay community in Bermondsey Abbey rather than differences in selective admissions processes.

9.
Hum Mol Genet ; 33(9): 768-786, 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38280232

RESUMO

In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well understood. However, there is still limited knowledge about the specific cellular outcomes and factors involved for each gene and mutation, which contributes to the lack of effective treatments for these disorders. This study focused on fibroblasts from a patient with Autosomal Dominant Optic Atrophy (ADOA) plus syndrome harboring a mutation in the Optic Atrophy 1 (OPA1) gene. By combining functional and transcriptomic approaches, we investigated the mitochondrial function and identified cellular phenotypes associated with the disease. Our findings revealed that fibroblasts with the OPA1 mutation exhibited a disrupted mitochondrial network and function, leading to altered mitochondrial dynamics and reduced autophagic response. Additionally, we observed a premature senescence phenotype in these cells, suggesting a previously unexplored role of the OPA1 gene in inducing senescence in ADOA plus patients. This study provides novel insights into the mechanisms underlying mitochondrial dysfunction in ADOA plus and highlights the potential importance of senescence in disease progression.


Assuntos
Doenças Mitocondriais , Atrofia Óptica Autossômica Dominante , Humanos , Atrofia Óptica Autossômica Dominante/genética , Mutação , Autofagia/genética , Fibroblastos , GTP Fosfo-Hidrolases/genética
10.
Clin Kidney J ; 17(1): sfad121, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38186900

RESUMO

This narrative review sheds light on the use of transcriptomics in the analysis of kidney biopsies and urinary cell samples from patients with immunoglobulin A nephropathy or lupus nephritis. The conventional methods of examining kidney biopsy through light microscopy, immunofluorescence and electron microscopy provide valuable clinical information for diagnosis and prognosis but have some limitations that transcriptomics can address. Some recent studies have reported that kidney transcriptomics has uncovered new molecular biomarkers implicated in the inflammatory process induced by the deposition of circulating immune complexes in the investigated kidney diseases. In addition, transcriptomics applied to urinary cells mirrors the inflammatory process that occurs in the kidney. This means that we can study urinary cell transcriptomics in clinical practice to diagnose the stage of the inflammatory process. Furthermore, the transcriptomics of urinary cells can be used to make therapy decisions during patient follow-up to avoid the stress of a second kidney biopsy. The studies analyzed in this review have a significant limitation. Biomarkers have been identified in small cohorts of patients but none of them has been validated in independent external cohorts. Further prospective studies in large cohorts of patients are necessary for accurate and complete validation. Only after that can these biomarkers be widely used in clinical practice.

12.
Am J Emerg Med ; 74: 95-99, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37802001

RESUMO

INTRODUCTION: Recognition of stroke by Emergency Medical Services (EMS) is critical to initiate rapid emergency department treatment. Most prehospital stroke screening tools rely heavily on presentation with the classic symptoms of facial droop, speech changes, unilateral weakness. However, women may be less likely to present with classic symptoms and may also have different distributions of stroke by anatomical location. This study seeks to determine the association between biological sex, presentation with classic symptoms, and the location of the infarcted tissue. METHODS: This is a retrospective cohort study. Data from electronic health records were extracted for patients with acute ischemic stroke who presented via EMS to a single Comprehensive Stroke Center between January 1, 2018 and December 31, 2020. We used descriptive statistics characterize the cohort. Multivariable logistic regression identified factors associated with classic symptom presentation (facial droop, speech changes, and/or unilateral weakness). Biological sex, location of the infarct, stroke etiology, age and the interaction between sex and infarct location were assessed as covariates. RESULTS: There were 364 (58.6%) males and 257 (41.1%) females with an acute ischemic stroke included in this study. EMS documented one or more classic symptoms in 125 (72.3%) males and 161 (67.9%) females. There were no baseline differences in infarct location or presentation with classic symptoms as documented by EMS comparing males and females. Multivariate logistic regression found no association between biological sex and presentation with classic symptoms (Odds Ratio 1.08; 95% CI 0.58 to 1.55) after controlling for age, stroke location, etiology of stroke or the interaction between sex and infarct location. Presence of an anterior circulation infarct compared to posterior circulation infarct was positively associated with a classic presentation to EMS (Odds Ratio 3.41; 95% CI 2.15 to 5.41). CONCLUSIONS: This study found no difference in the frequency of patient presentation with classic stroke symptoms based on biological sex alone, nor a significant different in distribution of infarcts between males and females. Infarct location (i.e., involving the anterior circulation) was associated with a classic presentation. This suggests that the likelihood of presenting with classic stroke symptoms is not influenced by sex, but rather the location of the infarct.


Assuntos
Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Masculino , Feminino , Isquemia Encefálica/terapia , Estudos Retrospectivos , Caracteres Sexuais , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/terapia , Infarto
13.
Proc Natl Acad Sci U S A ; 120(42): e2304545120, 2023 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-37812724

RESUMO

One of the most well-known yet least understood aspects of the 1918 influenza pandemic is the disproportionately high mortality among young adults. Contemporary accounts further describe the victims as healthy young adults, which is contrary to the understanding of selective mortality, which posits that individuals with the highest frailty within a group are at the greatest risk of death. We use a bioarchaeological approach, combining individual-level information on health and stress gleaned from the skeletal remains of individuals who died in 1918 to determine whether healthy individuals were dying during the 1918 pandemic or whether underlying frailty contributed to an increased risk of mortality. Skeletal data on tibial periosteal new bone formation were obtained from 369 individuals from the Hamann-Todd documented osteological collection in Cleveland, Ohio. Skeletal data were analyzed alongside known age at death using Kaplan-Meier survival and Cox proportional hazards analysis. The results suggest that frail or unhealthy individuals were more likely to die during the pandemic than those who were not frail. During the flu, the estimated hazards for individuals with periosteal lesions that were active at the time of death were over two times higher compared to the control group. The results contradict prior assumptions about selective mortality during the 1918 influenza pandemic. Even among young adults, not everyone was equally likely to die-those with evidence of systemic stress suffered greater mortality. These findings provide time depth to our understanding of how variation in life experiences can impact morbidity and mortality even during a pandemic caused by a novel pathogen.


Assuntos
Fragilidade , Influenza Humana , Adulto Jovem , Humanos , Fragilidade/epidemiologia , Pandemias , Influenza Humana/epidemiologia , Morbidade , Periósteo/patologia
15.
J Gay Lesbian Soc Serv ; 35(2): 204-217, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37635934

RESUMO

Ensuring that mental health professionals are appropriately trained to provide affirming and sensitive care to transgender and gender diverse (TGD) adults is one mechanism that may reduce the marginalization sometimes experienced by TGD adults in mental health contexts. In this study, mental health professionals (n=142) completed an online survey documenting the sources and types of training received to provide TGD-sensitive care; and, shared a self-assessment of their comfort, competence, and ability to provide TGD-sensitive care. Findings revealed that the majority of the mental health professionals in the study (approximately 81%) received specific training to work with TGD clients from a variety of sources. These mental health professionals also self-reported high levels of comfort, competence, and ability to offer TGD-sensitive care which were statistically significantly associated with the number of hours of TGD-specific training they had received.

16.
Sci Rep ; 13(1): 13662, 2023 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-37608044

RESUMO

Reproductive dysfunctions have been recently documented in male greater amberjack Seriola dumerili caught from the wild and reared in captivity. In the present study, we compared testis transcriptome in wild fish (WILD), hatchery-produced fish with apparently normal spermatogenesis (Normal Farmed; NormalF) and hatchery-produced fish with evident reproductive dysfunction (Dysfunctional Farmed; DysF). Gene expression analysis identified 2157, 1985 and 74 differentially expressed genes (DEGs) in DysF vs WILD, NormalF vs DysF and NormalF vs WILD comparisons, respectively. In DysF, a dysregulation of several interconnected biological processes, including cell assembly, steroidogenesis and apoptosis was found. Gene enrichment of progesterone-mediated oocyte maturation, oocyte meiosis and cell cycle pathways were identified in the DysF vs NormalF comparison. Most of the DEGs involved in the enriched pathways were downregulated in DysF. The comparison of NormalF vs WILD showed that most of the DEGs were downregulated in NormalF, including a gene that encodes for a regulatory protein with a protective role in apoptosis regulation (ptpn6), indicating that spermatogenesis was dysfunctional also in the apparently "normal" hatchery-produced fish. Hence, rearing of male greater amberjack in captivity, from eggs produced by captive breeders, did not prevent the appearance of reproductive dysfunctions, and these dysfunctions involved several biological processes and metabolic pathways.


Assuntos
Perciformes , Testículo , Masculino , Animais , Espermatogênese/genética , Meiose/genética , RNA Mensageiro/genética
17.
J Health Care Poor Underserved ; 34(2): 569-584, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37464518

RESUMO

Transgender and gender diverse (TGD) individuals often must undergo a psychosocial assessment and receive a letter of support from a mental health care provider to access gender-affirming medical care (GAMC). This study describes TGD individuals' perceptions of barriers and benefits of the assessment process and uses thematic analysis to explore TGD individuals' opinions on how mental health care should or should not be related to gender-affirming medical care. Two hundred and eighteen TGD participants completed an online survey. Participants endorsed benefits and negative impacts associated with the psychosocial assessment and provided qualitative responses to explain their support or opposition to involvement of mental health care and assessment in accessing GAMC. Nearly all participants identified both benefits (e.g., "experienced validation") and barriers (e.g., "experienced an increase in psychological distress") to the psychosocial assessment. Results are considered in the context of the historical marginalization and gatekeeping of TGD people by the medical system.


Assuntos
Angústia Psicológica , Pessoas Transgênero , Humanos , Pessoal de Saúde , Identidade de Gênero
18.
JAMA Dermatol ; 159(9): 930-938, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-37494057

RESUMO

Importance: Hidradenitis suppurativa (HS) is a common and severely morbid chronic inflammatory skin disease that is reported to be highly heritable. However, the genetic understanding of HS is insufficient, and limited genome-wide association studies (GWASs) have been performed for HS, which have not identified significant risk loci. Objective: To identify genetic variants associated with HS and to shed light on the underlying genes and genetic mechanisms. Design, Setting, and Participants: This genetic association study recruited 753 patients with HS in the HS Program for Research and Care Excellence (HS ProCARE) at the University of North Carolina Department of Dermatology from August 2018 to July 2021. A GWAS was performed for 720 patients (after quality control) with controls from the Add Health study and then meta-analyzed with 2 large biobanks, UK Biobank (247 cases) and FinnGen (673 cases). Variants at 3 loci were tested for replication in the BioVU biobank (290 cases). Data analysis was performed from September 2021 to December 2022. Main Outcomes and Measures: Main outcome measures are loci identified, with association of P < 1 × 10-8 considered significant. Results: A total of 753 patients were recruited, with 720 included in the analysis. Mean (SD) age at symptom onset was 20.3 (10.57) years and at enrollment was 35.3 (13.52) years; 360 (50.0%) patients were Black, and 575 (79.7%) were female. In a meta-analysis of the 4 studies, 2 HS-associated loci were identified and replicated, with lead variants rs10512572 (P = 2.3 × 10-11) and rs17090189 (P = 2.1 × 10-8) near the SOX9 and KLF5 genes, respectively. Variants at these loci are located in enhancer regulatory elements detected in skin tissue. Conclusions and Relevance: In this genetic association study, common variants associated with HS located near the SOX9 and KLF5 genes were associated with risk of HS. These or other nearby genes may be associated with genetic risk of disease and the development of clinical features, such as cysts, comedones, and inflammatory tunnels, that are unique to HS. New insights into disease pathogenesis related to these genes may help predict disease progression and novel treatment approaches in the future.


Assuntos
Acne Vulgar , Hidradenite Supurativa , Humanos , Feminino , Masculino , Hidradenite Supurativa/genética , Hidradenite Supurativa/patologia , Estudo de Associação Genômica Ampla , Pele/patologia , Fatores de Risco
19.
JNCI Cancer Spectr ; 7(5)2023 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-37494457

RESUMO

BACKGROUND: It is unclear whether genetic variants affecting vitamin D metabolism are associated with melanoma prognosis. Two functional missense variants in the vitamin D-binding protein gene (GC), rs7041 and rs4588, determine 3 common haplotypes, Gc1s, Gc1f, and Gc2, of which Gc1f may be associated with decreased all-cause death among melanoma patients based on results of a prior study, but the association of Gc1f with melanoma-specific death is unclear. METHODS: We investigated the association of the Gc1s, Gc1f, and Gc2 haplotypes with melanoma-specific and all-cause death among 4490 individuals with incident, invasive primary melanoma in 2 population-based studies using multivariable Cox-proportional hazards regression. RESULTS: In the pooled analysis of both datasets, the patients with the Gc1f haplotype had a 37% lower risk of melanoma-specific death than the patients without Gc1f (hazard ratio [HR] = 0.63, 95% confidence interval [CI] = 0.47 to 0.83, P = .001), with adjustments for age, sex, study center, first- or higher-order primary melanoma, tumor site, pigmentary phenotypes, and Breslow thickness. Associations were similar in both studies. In pooled analyses stratified by Breslow thickness, the corresponding melanoma-specific death HRs for those patients with the Gc1f haplotype compared with those without Gc1f were 0.89 (95% CI = 0.63 to 1.27) among participants with tumor Breslow thickness equal to or less than 2.0 mm and 0.40 (95% CI = 0.25 to 0.63) among participants with tumor Breslow thickness greater than 2.0 mm (Pinteraction = .003). CONCLUSIONS: Our findings suggest that individuals with the GC haplotype Gc1f may have a lower risk of dying from melanoma-specifically from thicker, higher-risk melanoma-than individuals without this Gc1f haplotype.


Assuntos
Melanoma , Proteína de Ligação a Vitamina D , Humanos , Melanoma/genética , Polimorfismo de Nucleotídeo Único , Vitamina D , Proteína de Ligação a Vitamina D/genética , Proteína de Ligação a Vitamina D/metabolismo , Melanoma Maligno Cutâneo
20.
Eur Rev Med Pharmacol Sci ; 27(12): 5878-5884, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37401325

RESUMO

OBJECTIVE: Sick leave is a major negative economic effect of the COVID-19 pandemic. In April 2021, the Integrated Benefits Institute reported that employers spent a total of US $50.5 billion for workers absent due to the COVID-19 pandemic. While vaccination programs lowered the number of severe illness and hospitalizations worldwide, the number of side effects following vaccination against COVID-19 were high. The present study aimed to evaluate the effect of vaccination on the probability of taking sick leave in the week following vaccination. SUBJECTS AND METHODS: The study population was comprised of all personnel serving in the Israel Defense Forces (IDF) between October 7, 2020, and October 3, 2021, (a total of 52 weeks) who were vaccinated with at least one dose of the BNT162b2 vaccine. Data on Israel Defense Forces (IDF) personnel sick leaves were retrieved and the probability of a "post-vaccination week sick leave" and a "regular (not post-vaccination week) sick leave" were analyzed. An additional analysis was performed to determine whether winter-related diseases or the sex of the personnel affected the probability of taking sick leave. RESULTS: The probability of taking sick leave in a post-vaccination week was significantly higher than the probability of taking sick leave in a regular week (8.45% vs. 4.3%, respectively, p < 0.01). The increased probability remained unchanged after analysis of sex-related and winter disease-related variables. CONCLUSIONS: Given the major effect of vaccination against COVID-19 by BNT162b2 vaccine on the probability of taking sick leave, when medically feasible, the timing of the vaccination should be considered by medical, military, and industrial authorities with the intent to minimize the effect on overall national economy and safety.


Assuntos
COVID-19 , Militares , Humanos , Vacina BNT162 , Vacinas contra COVID-19 , Licença Médica , Pandemias/prevenção & controle , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinação
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...