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1.
Artigo em Inglês | MEDLINE | ID: mdl-38808961

RESUMO

BACKGROUNDS AND AIMS: Alcohol use leads to disabilities and deaths worldwide. It not only harms the liver but also causes alcohol use disorder (AUD) and heart disease. Additionally, alcohol consumption contributes to health disparities among different socio-economic groups. METHODS: We estimated global and regional trends in the burden of AUD, liver disease, and cardiovascular disease from alcohol using the methodology of the Global Burden of Disease study. RESULTS: In 2019, the highest disability-adjusted life years rate per 100,000 population was due to AUD (207.31 [95% Uncertainty interval (UI) 163.71-261.66]), followed by alcohol-associated liver disease (ALD) (133.31 [95% UI 112.68-156.17]). The prevalence rate decreased for AUD (APC [annual percentage change] -0.38%) and alcohol-induced cardiomyopathy (APC -1.85%) but increased for ALD (APC 0.44%) and liver cancer (APC 0.53%). Although the mortality rate for liver cancer from alcohol increased (APC 0.30%), mortality rates from other diseases decreased. Between 2010 and 2019, the burden of alcohol-associated complications increased in countries with low and low-middle sociodemographic index (SDI), contributing more significantly to the global burden. CONCLUSION: The global burden of AUD, liver, and cardiovascular disease has been high and increasing over the past decade, particularly for liver complications. Lower SDI countries are contributing more to this global burden. There is a pressing need for effective strategies to address this escalating burden.

2.
Ann Hepatol ; : 101499, 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38582247

RESUMO

Alcohol-associated liver disease (ALD) represents one of the deadliest yet preventable consequences of excessive alcohol use. It represents 5.1 % of the global burden of disease, mainly involving the productive-age population (15-44 years) and leading to an increased mortality risk from traffic road injuries, suicide, violence, cardiovascular disease, neoplasms, and liver disease, among others, accounting for 5.3 % of global deaths. Daily alcohol consumption, binge drinking (BD), and heavy episodic drinking (HED) are the patterns associated with a higher risk of developing ALD. The escalating global burden of ALD, even exceeding what was predicted, is the result of a complex interaction between the lack of public policies that regulate alcohol consumption, low awareness of the scope of the disease, late referral to specialists, underuse of available medications, insufficient funds allocated to ALD research, and non-predictable events such as the COVID-19 pandemic, where increases of up to 477 % in online alcohol sales were registered in the United States. Early diagnosis, referral, and treatment are pivotal to achieving the therapeutic goal in patients with alcohol use disorder (AUD) and ALD, where complete alcohol abstinence and prevention of alcohol relapse are expected to enhance overall survival. This can be achieved through a combination of cognitive behavioral, motivational enhancement and pharmacological therapy. Furthermore, the appropriate use of available pharmacological therapy and implementation of public policies that comprehensively address this disease will make a real difference.

3.
Hepatology ; 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38598364

RESUMO

BACKGROUND AND AIMS: The worldwide burden of cancer is increasing in younger populations. However, the epidemiology of primary liver cancer remains understudied in young adults compared to other cancer forms. APPROACH AND RESULTS: This study analyzed data from the Global Burden of Disease study between 2010 and 2019 to assess the age-standardized incidence, mortality, and disability-adjusted life years associated with primary liver cancer in the young (15-49 y), stratified by region, nation, sociodemographic index, and sex. The study found a global estimate of 78,299 primary liver cancer cases, 60,602 deaths, and 2.90 million disability-adjusted life years in the young population. The Western Pacific region exhibited the highest burden in 2019, showing the most significant increase compared to other regions between 2010 and 2019. More than half of the countries worldwide have undergone an increase in primary liver cancer incidence rates in young adults. Around 12.51% of deaths due to primary liver cancer occur in young individuals. Throughout the study period, there was a significant decline in primary liver cancer mortality due to most etiologies, except for metabolic dysfunction-associated steatotic liver disease-attributable primary liver cancer (annual percentage change + 0.87%, 95% CI: 0.70%-1.05%) and alcohol-attributable primary liver cancer (annual percentage change + 0.21%, 95% CI: 0.01%-0.42%). The limitations of the Global Burden of Disease database include reliance on the quality of primary data and possible underestimation of alcohol consumption. CONCLUSIONS: Over the past decade, there has been a marked increase in the burden of primary liver cancer, especially that originating from steatotic liver disease. This trend calls for the development of urgent and comprehensive strategies to mitigate this rising burden globally.

5.
JHEP Rep ; 6(4): 101020, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38515553

RESUMO

Background & Aims: Alcohol-associated liver diseases (ALDs) and alcohol use disorder (AUD) pose a global health risk. AUD is underrecognized in the elderly, and the burden of AUD complications, including ALD, may increase with aging populations and rising alcohol intake. However, there is a lack of epidemiological evidence on AUD and ALD in the elderly. Methods: Using the Global Burden of Disease Study 2019, we analyzed the prevalence, mortality, disability-adjusted life years (DALYs), age-standardized rates (ASRs), and temporal change from 2000 to 2019 of ALD and AUD in the overall population and the elderly (65-89 years). The findings were categorized by sex, region, nation, and sociodemographic index. Results: The prevalence rates of ALD in the elderly were higher than those in adolescents and young adults, whereas AUD levels were lower than those in adolescents and young adults. In 2019, there were 9.39 million cases (8.69% of cases in the overall population) of AUD, 3.23 million cases (21.8% of cases in the overall population) of alcohol-associated cirrhosis, and 68,468 cases (51.27% of cases in the overall population) of liver cancer from alcohol among the elderly. ASRs of the prevalence of ALD and AUD in the elderly increased in most regions; on the contrary, ASRs of death and DALYs decreased in most regions. Nevertheless, ASRs of death and DALYs from liver cancer from alcohol increased in many areas. Conclusions: Our findings highlighted the increased prevalence of ALD in the elderly, with a burden of AUD comparable with that in the overall population. Public health strategies on ALD and AUD targeting the elderly are urgently needed. Impact and implications: The burden of alcohol-associated liver disease (ALD) and alcohol use disorder (AUD) is increasing. Advances in healthcare and education have resulted in a remarkable spike in life expectancy and a consequential population aging. Nevertheless, little is known about the epidemiology of ALD and AUD in the elderly. Our study indicates the increasing burden of ALD and AUD in the elderly population, necessitating early detection, intervention, and tailored care to the unique needs and complexities faced by older individuals grappling with these conditions.

6.
J Hepatol ; 80(3): 409-418, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37992972

RESUMO

BACKGROUND & AIMS: The long-term impact of alcohol-related public health policies (PHPs) on disease burden is unclear. We aimed to assess the association between alcohol-related PHPs and alcohol-related health consequences. METHODS: We conducted an ecological multi-national study including 169 countries. We collected data on alcohol-related PHPs from the WHO Global Information System of Alcohol and Health 2010. Data on alcohol-related health consequences between 2010-2019 were obtained from the Global Burden of Disease database. We classified PHPs into five items, including criteria for low, moderate, and strong PHP establishment. We estimated an alcohol preparedness index (API) using multiple correspondence analysis (0 lowest and 100 highest establishment). We estimated an incidence rate ratio (IRR) for outcomes according to API using adjusted multilevel generalized linear models with a Poisson family distribution. RESULTS: The median API in the 169 countries was 54 [IQR 34.9-76.8]. The API was inversely associated with alcohol use disorder (AUD) prevalence (IRR 0.13; 95% CI 0.03-0.60; p = 0.010), alcohol-associated liver disease (ALD) mortality (IRR 0.14; 95% CI 0.03-0.79; p = 0.025), mortality due to neoplasms (IRR 0.09; 95% CI 0.02-0.40; p = 0.002), alcohol-attributable hepatocellular carcinoma (HCC) (IRR 0.13; 95% CI 0.02-0.65; p = 0.014), and cardiovascular diseases (IRR 0.09; 95% CI 0.02-0.41; p = 0.002). The highest associations were observed in the Americas, Africa, and Europe. These associations became stronger over time, and AUD prevalence was significantly lower after 2 years, while ALD mortality and alcohol-attributable HCC incidence decreased after 4 and 8 years from baseline API assessment, respectively (p <0.05). CONCLUSIONS: The API is a valuable instrument to quantify the robustness of alcohol-related PHP establishment. Lower AUD prevalence and lower mortality related to ALD, neoplasms, alcohol-attributable HCC, and cardiovascular diseases were observed in countries with a higher API. Our results encourage the development and strengthening of alcohol-related policies worldwide. IMPACT AND IMPLICATIONS: We first developed an alcohol preparedness index, an instrument to assess the existence of alcohol-related public policies for each country. We then evaluated the long-term association of the country's alcohol preparedness index in 2010 with the burden of chronic liver disease, hepatocellular carcinoma, other neoplasms, and cardiovascular disease. The strengthening of alcohol-related public health policies could impact long-term mortality rates from cardiovascular disease, neoplasms, and liver disease. These conditions are the main contributors to the global burden of disease related to alcohol use. Over time, this association has not only persisted but also grown stronger. Our results expand the preliminary evidence regarding the importance of public health policies in controlling alcohol-related health consequences.


Assuntos
Alcoolismo , Carcinoma Hepatocelular , Doenças Cardiovasculares , Hepatopatias Alcoólicas , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/etiologia , Carcinoma Hepatocelular/complicações , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/complicações , Hepatopatias Alcoólicas/patologia , Alcoolismo/complicações , Política Pública , Política de Saúde
9.
Curr Treat Options Gastroenterol ; 20(3): 261-278, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35729970

RESUMO

Purpose of review: To assess the current challenges regarding liver diseases, including the burden of disease, access to care, screening, and treatment needs in Latin America. Recent findings: Latin America is a region with a rich multicultural heritage and important socioeconomic differences. The burden of liver diseases is high and mainly determined by a high level of alcohol intake and the surge of risk factors associated with NAFLD (i.e., sedentary lifestyles, broader access to highly processed foods, obesity, and type 2 diabetes mellitus). Hepatotropic viruses also play a role in the development of chronic liver diseases, although their comparative frequency has been decreasing over the last decades. There are important disparities in access to screening and treatment for liver diseases in Latin America, which are reflected in low access to critical treatments such as direct-acting antiviral agents and drugs to treat hepatocellular carcinoma. Also, important barriers to liver transplantation are present in multiple countries, including a low deceased donors' rate and a lack of availability in several countries (especially in Central America). Our region also has disadvantages in research and education in liver diseases, which limits regional academic development and improvement in quality of care of liver diseases. Summary: In order to tackle an increasing health burden due to liver diseases, Latin America urgently needs tailored interventions aiming to control the main risk factors for these disorders through the establishment of effective public health policies. Also, development of liver transplantation programs and improvement of medical education and research capabilities as well as extensive collaboration between all stakeholders are keys to address the liver disease agenda in the region.

10.
Alcohol Alcohol ; 57(3): 283-291, 2022 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-35333295

RESUMO

Alcohol consumption represents a major factor of morbidity and mortality, with a wide range of adverse medical implications that practically affect every organ system. It is the fifth major cause of deaths in men and women and causes up to 139 million disability-adjusted life years. Solid evidence places the risk as undoubtedly correlated to the length of time and amount of alcohol consumption. While alcohol-related liver disease represents one of the most studied and well-known consequences of alcohol use, the term itself embodies a wide spectrum of progressive disease stages that are responsible for almost half of the liver-related mortality worldwide. We discuss the staged alcohol-related fatty liver, alcohol-related steatohepatitis and, finally, fibrosis and cirrhosis, which ultimately may end up in a hepatocellular carcinoma. Other comorbidities such as acute and chronic pancreatitis; central nervous system; cardiovascular, respiratory and endocrine system; renal disease; urological pathologies; type 2 diabetes mellitus and even infectious diseases are reviewed in their relation to alcohol consumption. This article reviews the impact of alcohol use on different systems and organs, summarizing available evidence regarding its medical implications. It examines current basic and clinical data regarding mechanisms to highlight factors and processes that may be targetable to improve patient outcomes. Although alcohol use is a part of many cultural and social practices, as healthcare providers we must identify populations at high risk of alcohol abuse, educate patients about the potential alcohol-related harm and provide appropriate treatment.


Assuntos
Diabetes Mellitus Tipo 2 , Fígado Gorduroso Alcoólico , Hepatopatia Gordurosa não Alcoólica , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Feminino , Humanos , Masculino
11.
Rev. méd. Chile ; 149(9): 1360-1371, sept. 2021. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-1389596

RESUMO

Non-alcoholic fatty liver disease (NAFLD) has a high prevalence and risk of progression to cirrhosis and other complications in patients with type 2 diabetes mellitus (T2DM). Likewise, the presence of NAFLD implies a high risk of developing T2DM, determining a bidirectional relationship between them. The diabetology and hepatology societies, developed a joint initiative aiming to unify criteria, reviewing the definitions, diagnostic criteria, risk stratification, treatment, and follow-up of patients with NAFLD and T2DM. The key questions to be discussed were defined by a panel of specialists in diabetology and hepatology. The Delphi methodology was used to reach consensus on the respective recommendations. Based on the discussion generated among the experts, diagnostic and treatment algorithms were proposed, as well as an indication for referral and the role of the different specialists involved in the management of these patients. Strengthening multidisciplinary work with patients with NAFLD and T2DM will allow the early recognition of the disease, the prevention of the progression to cirrhosis, and reducing the associated complications.


Assuntos
Humanos , Diabetes Mellitus Tipo 2/complicações , Hepatopatia Gordurosa não Alcoólica/complicações , Gastroenterologia , Chile/epidemiologia
12.
Clin Endosc ; 54(5): 754-758, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34030436

RESUMO

The Roux-en-Y gastric bypass is one of the most extensive surgical treatments for obesity. The treatment of upper gastrointestinal bleeding after Roux-en-Y gastric bypass is complex due to the difficulty of accessing the excluded gastric antrum and duodenal bulb. There is no consensus regarding the management of this complication. While various techniques have been described to access the biliopancreatic limb, double-balloon enteroscopy is the most commonly used. If double-balloon enteroscopy is unavailable, a pediatric colonoscope may be used as an alternative; however, its use in such cases has not been described. We report the case of a 50-year-old male patient who underwent gastric bypass 13 years ago and was admitted for a second episode of upper gastrointestinal bleeding. The initial approach using upper endoscopy, colonoscopy, and abdominal computed tomography angiography did not reveal the cause of gastrointestinal hemorrhage; therefore, an endoscopic study of the biliopancreatic limb was performed using a pediatric colonoscope. A Forrest Ib ulcer was found in the duodenal bulb, and endoscopic therapy was administered. The evolution was found to be satisfactory.

13.
Rev. méd. Chile ; 148(11)nov. 2020.
Artigo em Espanhol | LILACS | ID: biblio-1389243

RESUMO

Background: In Chile, organ allocation for liver transplantation (LT) in adults is prioritized according to the MELD-Na score. Exceptions such as Hepatocellular Carcinoma (HCC) and other non-HCC exceptions receive a score called Operational MELD score. Aim: To evaluate the effectiveness of the MELD-Na score and the operational MELD score as a prioritization system for LT in Chile. Material and Methods: Retrospective analysis of the waiting list (WL) of adult candidates (≥ 15 years) for elective LT in Chile from 2011 to 2017. The probability of leaving the WL, defined by death or contraindication for LT was compared in three groups: 1) Cirrhotic patients prioritized according to their real MELD-Na score (CPM), 2) HCC and 3) other non-HCC exceptions. Results: We analyzed 730 candidates for LT, with a median age of 57 years, 431 (56%) were men. In the study period, 352 LT were performed (48%). The annual exit rate was significantly higher in the CPM group (45.5%) compared to HCC (33.1%) and non-HCC (29.3%), (p < 0.001). Post LT survival was 86% at 1 year and 85% at 5 years, without significant differences between groups. In the CPM group, post-transplant survival was significantly lower (p < 0.05) in patients with MELD-Na ≥ 30 at transplant (81% per year) compared to patients with patients with MELD-Na < 30 (91% per year). Conclusions: MELD-Na score can discriminate very well patients who have a higher risk of death in the short and medium term. However, the assignment of operational scores for situations of exception produces inequities in the allocation of organs for LT and must therefore be carefully adjusted.


Assuntos
Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Obtenção de Tecidos e Órgãos , Transplante de Fígado , Carcinoma Hepatocelular , Neoplasias Hepáticas , Índice de Gravidade de Doença , Chile/epidemiologia , Estudos Retrospectivos , Listas de Espera , Carcinoma Hepatocelular/cirurgia , Neoplasias Hepáticas/cirurgia
14.
Rev. méd. Chile ; 148(11)nov. 2020.
Artigo em Espanhol | LILACS | ID: biblio-1389248

RESUMO

Background: The School of Medicine of the Pontificia Universidad Católica de Chile implemented diverse curricular changes addressing teaching challenges, including those related to generational diversity. Aim: To describe the implementation and results of curricular innovation in the Theoretic Gastroenterology Course (CTG) imparted between 2008 and 2020. Materials and Methods: The new teaching methods consisted in the implementation of interactive sessions, research conferences, video-recorded classes, and a learning management/assessment platform. An assessment of the learning model was implemented. As bibliographic material we incorporated self-instructive material and the CTG manual was re-edited. We registered the course syllabi, evaluation surveys, and final grades. Results: Students dedicated more time to attend the course, from 12.2 hours before to 18 hours after the implementation of video lessons (p < 0.05). They reported improvements in the areas "Feedback" (from 6.2 to 6.6, on a scale of 1 to 7; p < 0.05) and "Grades" (from 6.3 to 6.4; p < 0.05), after implementing a learning model assessment. The score for "Information sources" increased from 6.5 to 6.6 after the re-edition of the manual (p < 0.05). The final grades were similar or significantly higher than the average grades of all the theoretical courses imparted in the same period. Conclusions: The CTG underwent a series of curricular modifications, allowing for a rapid adaptation to extremely dynamic academic conditions.


Assuntos
Humanos , Estudantes de Medicina , Educação de Graduação em Medicina , Ensino , Materiais de Ensino , Chile , Currículo , Aprendizagem
15.
Rev. méd. Chile ; 148(9)sept. 2020.
Artigo em Espanhol | LILACS | ID: biblio-1389325

RESUMO

Background: The Chilean allocation system for liver transplantation (LT) uses the MELD/PELD score to prioritize candidates on the waiting list. Aim: To assess if the Chilean allocation system for LT is equitable for pediatric candidates compared to their adult counterparts. Material and Methods: We used the Public Health Institute's registry between October 2011 and December 2017. We analyzed candidates with chronic hepatic diseases listed for LT. The primary outcome was the cadaveric liver transplantation (CLT) rate. Secondary outcomes were death or disease progression in the waiting list and living donor liver transplant (LDLT) rate. Results: We analyzed 122 pediatric and 735 adult candidates. Forty one percent of pediatric candidates obtained a CLT compared to 48% of adults (p = NS). Among patients aged under two years of age, the access to CLT on the waiting list there was 28% of CLT, compared to 48% in adults (p = 0.001). Fifty-seven percent of candidates aged under two years were listed for cholestatic diseases, obtaining a CLT in 18% and requiring a LDLT in 49%. The median time in the waiting list for CLT was 5.9 months in pediatric candidates and 5.1 in adults, while the median time to death in the waiting list was 2.8 and 5.6 months, respectively. The mortality rate at one year in candidates under two years old was 38.1% compared to 32.5% in adults. Conclusions: Pediatric candidates with chronic liver diseases, especially under two years of age, have greater access difficulties to CLT than adults. Half of the pediatric candidates die on the waiting list before three months. The mortality among candidates under two years of age in the waiting list is excessively high.


Assuntos
Adulto , Criança , Pré-Escolar , Humanos , Transplante de Fígado , Hepatopatias , Índice de Gravidade de Doença , Chile/epidemiologia , Listas de Espera , Doadores Vivos , Hepatopatias/cirurgia
16.
Cancer Sci ; 111(8): 3000-3009, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32473611

RESUMO

Clear cell carcinoma of the ovary is thought to arise from endometriosis. In addition, retrograde menstruation of shed endometrium is considered the origin of endometriosis. However, little evidence supports cellular continuity from uterine endometrium to clear cell carcinoma through endometriosis at the genomic level. Here, we performed multiregional whole-exome sequencing to clarify clonal relationships among uterine endometrium, ovarian endometriosis and ovarian clear cell carcinoma in a 56-year-old patient. Many somatic mutations including cancer-associated gene mutations in ARID1A, ATM, CDH4, NRAS and PIK3CA were shared among epithelium samples from uterine endometrium, endometriotic lesions distant from and adjacent to the carcinoma, and the carcinoma. The mutant allele frequencies of shared mutations increased from uterine endometrium to distant endometriosis, adjacent endometriosis, and carcinoma. Although a splice site mutation of ARID1A was shared among the four epithelium samples, a frameshift insertion in ARID1A was shared by adjacent endometriosis and carcinoma samples, suggesting that the biallelic mutations triggered malignant transformation. Somatic copy number alterations, including loss of heterozygosity events at PIK3CA and ATM, were identified only in adjacent endometriosis and carcinoma, suggesting that mutant allele-specific imbalance is another key factor driving malignant transformation. By reconstructing a clonal evolution tree based on the somatic mutations, we showed that the epithelium samples were derived from a single ancestral clone. Although the study was limited to a single patient, the results from this illustrative case could suggest the possibility that epithelial cells of ovarian endometriosis and clear cell carcinoma were descendants of uterine endometrial epithelium.


Assuntos
Adenocarcinoma de Células Claras/patologia , Transformação Celular Neoplásica/genética , Evolução Clonal , Endometriose/patologia , Células Epiteliais/patologia , Neoplasias Ovarianas/patologia , Adenocarcinoma de Células Claras/genética , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Endometriose/genética , Endométrio/citologia , Endométrio/patologia , Feminino , Frequência do Gene , Humanos , Pessoa de Meia-Idade , Mutação , Neoplasias Ovarianas/genética , Ovário/citologia , Ovário/patologia , Estudos de Caso Único como Assunto , Sequenciamento do Exoma
17.
Int J Immunogenet ; 47(4): 332-341, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31994826

RESUMO

The prediction of regulatory single nucleotide polymorphisms (rSNPs) in proximal promoters of disease-related genes could be a useful tool for personalized medicine in both patient stratification and customized therapy. Using our previously reported method of rSNPs prediction (currently a software called SNPClinic v.1.0) as well as with PredictSNP tool, we performed in silico prediction of regulatory SNPs in the antimicrobial peptide human ß-defensin 1 gene in three human cell lines from 1,000 Genomes Project (1kGP), namely A549 (epithelial cell line), HL-60 (neutrophils) and TH 1 (lymphocytes). These predictions were run in a proximal pseudo-promoter comprising all common alleles on each polymorphic site according to the 1,000 Genomes Project data (1kGP: ALL). Plasmid vectors containing either the major or the minor allele of a putative rSNP rs5743417 (categorized as regulatory by SNPClinic and confirmed by PredictSNP) and a non-rSNP negative control were transfected to lung A549 human epithelial cell line. We assessed functionality of rSNPs by qPCR using the Pfaffl method. In A549 cells, minor allele of the SNP rs5743417 G→A showed a significant reduction in gene expression, diminishing DEFB1 transcription by 33% when compared with the G major allele (p-value = .03). SNP rs5743417 minor allele has high frequency in Gambians (8%, 1kGP population: GWD) and Afro-Americans (3.3%, 1kGP population: ASW). This SNP alters three transcription factors binding sites (TFBSs) comprising SREBP2 (sterols and haematopoietic pathways), CREB1 (cAMP, insulin and TNF pathways) and JUND (apoptosis, senescence and stress pathways) in the proximal promoter of DEFB1. Further in silico analysis reveals that this SNP also overlaps with GS1-24F4.2, a lincRNA gene complementary to the X Kell blood group related 5 (XKR5) mRNA. The potential clinical impact of the altered constitutive expression of DEFB1 caused by rSNP rs5743417 in DEFB1-associated diseases as tuberculosis, COPD, asthma, cystic fibrosis and cancer in African and Afro-American populations deserves further research.


Assuntos
Polimorfismo de Nucleotídeo Único/genética , Proteínas Citotóxicas Formadoras de Poros/genética , Regiões Promotoras Genéticas/genética , beta-Defensinas/genética , Células A549 , Negro ou Afro-Americano/genética , Sítios de Ligação , População Negra/genética , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , Regulação da Expressão Gênica/genética , Humanos , Linfócitos/metabolismo , Neutrófilos/metabolismo , Proteínas Proto-Oncogênicas c-jun/genética , RNA Mensageiro/genética , Proteína de Ligação a Elemento Regulador de Esterol 2/genética
18.
Rev Med Chil ; 148(11): 1541-1549, 2020 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-33844759

RESUMO

BACKGROUND: In Chile, organ allocation for liver transplantation (LT) in adults is prioritized according to the MELD-Na score. Exceptions such as Hepatocellular Carcinoma (HCC) and other non-HCC exceptions receive a score called Operational MELD score. AIM: To evaluate the effectiveness of the MELD-Na score and the operational MELD score as a prioritization system for LT in Chile. MATERIAL AND METHODS: Retrospective analysis of the waiting list (WL) of adult candidates (≥ 15 years) for elective LT in Chile from 2011 to 2017. The probability of leaving the WL, defined by death or contraindication for LT was compared in three groups: 1) Cirrhotic patients prioritized according to their real MELD-Na score (CPM), 2) HCC and 3) other non-HCC exceptions. RESULTS: We analyzed 730 candidates for LT, with a median age of 57 years, 431 (56%) were men. In the study period, 352 LT were performed (48%). The annual exit rate was significantly higher in the CPM group (45.5%) compared to HCC (33.1%) and non-HCC (29.3%), (p < 0.001). Post LT survival was 86% at 1 year and 85% at 5 years, without significant differences between groups. In the CPM group, post-transplant survival was significantly lower (p < 0.05) in patients with MELD-Na ≥ 30 at transplant (81% per year) compared to patients with patients with MELD-Na < 30 (91% per year). CONCLUSIONS: MELD-Na score can discriminate very well patients who have a higher risk of death in the short and medium term. However, the assignment of operational scores for situations of exception produces inequities in the allocation of organs for LT and must therefore be carefully adjusted.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Transplante de Fígado , Obtenção de Tecidos e Órgãos , Adulto , Carcinoma Hepatocelular/cirurgia , Chile/epidemiologia , Humanos , Neoplasias Hepáticas/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Listas de Espera
19.
World J Gastroenterol ; 26(48): 7693-7706, 2020 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-33505145

RESUMO

BACKGROUND: Coronavirus disease 2019 (COVID-19) disease can frequently affect the liver. Data on hepatic histopathological findings in COVID-19 is scarce. AIM: To characterize hepatic pathological findings in patients with COVID-19. METHODS: We conducted a systematic review with meta-analysis registered on PROSPERO (CRD42020192813), following PRISMA guidelines. Eligible trials were those including patients of any age and COVID-19 diagnosis based on a molecular test. Histopathological reports from deceased COVID-19 patients undergoing autopsy or liver biopsy were reviewed. Articles including less than ten patients were excluded. Proportions were pooled using random-effects models. Q statistic and I 2 were used to assess heterogeneity and levels of evidence, respectively. RESULTS: We identified 18 studies from 7 countries; all were case reports and case series from autopsies. All the patients were over 15 years old, and 67.2% were male. We performed a meta-analysis of 5 studies, including 116 patients. Pooled prevalence estimates of liver histopathological findings were hepatic steatosis 55.1% [95% confidence interval (CI): 46.2-63.8], congestion of hepatic sinuses 34.7% (95%CI: 7.9-68.4), vascular thrombosis 29.4% (95%CI: 0.4-87.2), fibrosis 20.5% (95%CI: 0.6-57.9), Kupffer cell hyperplasia 13.5% (95%CI: 0.6-54.3), portal inflammation 13.2% (95%CI: 0.1-48.8), and lobular inflammation 11.6% (95%CI: 0.3-35.7). We also identified the presence of venous outflow obstruction, phlebosclerosis of the portal vein, herniated portal vein, periportal abnormal vessels, hemophagocytosis, and necrosis. CONCLUSION: We found a high prevalence of hepatic steatosis and vascular thrombosis as major histological liver features. Other frequent findings included portal and lobular inflammation and Kupffer cell hyperplasia or proliferation. Further studies are needed to establish the mechanisms and implications of these findings.


Assuntos
COVID-19/complicações , Fígado Gorduroso/epidemiologia , Veias Hepáticas/patologia , Fígado/patologia , Trombose Venosa/epidemiologia , COVID-19/diagnóstico , COVID-19/mortalidade , COVID-19/virologia , Fígado Gorduroso/etiologia , Fígado Gorduroso/patologia , Humanos , Células de Kupffer/patologia , Fígado/irrigação sanguínea , Fígado/citologia , Prevalência , SARS-CoV-2/isolamento & purificação , SARS-CoV-2/patogenicidade , Trombose Venosa/etiologia , Trombose Venosa/patologia
20.
Rev. méd. Chile ; 147(11): 1382-1389, nov. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1094167

RESUMO

Background Chile has one of the highest mortality rates by gastric cancer (GC) worldwide. Primary prevention of GC and detection of pre-neoplastic and early neoplastic lesions should be a national priority. Aim To assess the impact of the protocolization of endoscopy referral and the use of H. pylori stool antigen test (HPSA) in the management of dyspepsia to decrease the waiting list for endoscopy and increase the detection of gastric pre-neoplastic and early neoplastic lesions. Material and Methods We included all patients referred to the Endoscopy Unit of a regional hospital, from January 2015 to December 2017. We also included patients with known pre-neoplastic lesions and all those with first degree relatives with GC. We implemented protocols for referral of patients with dyspepsia considering the use of HPSA test, prioritizing to endoscopy those with a higher risk of GC. Results A total of 4,641 endoscopies and 2,631 HPSA tests were carried out. After the adoption of these protocols, we observed a 52% decrease in the waiting time for endoscopy. The GC detection rate in this period was 1.8 to 3.1 cases per 100 endoscopies. After the adoption of the protocols, we observed a significant increase in early GC detection rate (from none in 2015 to 13% in 2017, p = 0.03). Conclusions The protocolization of the referral for endoscopy associated with widespread use of HPSA test in the management of patients with dyspepsia, are successful strategies to decrease waiting lists for endoscopy and optimize the detection rate of pre-neoplastic lesions and early GC.


Assuntos
Humanos , Lesões Pré-Cancerosas/diagnóstico , Listas de Espera , Helicobacter pylori/isolamento & purificação , Infecções por Helicobacter/diagnóstico , Dispepsia/diagnóstico , Fezes/microbiologia , Antígenos de Bactérias/análise , Lesões Pré-Cancerosas/microbiologia , Atenção Primária à Saúde , Encaminhamento e Consulta , Infecções por Helicobacter/complicações , Infecções por Helicobacter/microbiologia , Sensibilidade e Especificidade , Diagnóstico Precoce , Dispepsia/microbiologia , Endoscopia/estatística & dados numéricos
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