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OBJECTIVE: To identify the differences between early- (EOCRC) and late-onset colorectal cancer (LOCRC), and to evaluate the determinants of one-year all-cause mortality among advanced-stage patients. METHODS: A retrospective cohort study was carried out. CRC patients ≥ 18 years old were included. Chi-Square test was applied to compare both groups. Uni- and multivariate regressions were performed to evaluate the determinants of one-year all-cause mortality in all advanced-stage patients regardless of age of onset. RESULTS: A total of 416 patients were enrolled; 53.1 % were female. Ninety cases (21.6 %) had EOCRC and 326 (78.4 %) had LOCRC. EOCRC cases were predominantly sporadic (88.9 %). Histology of carcinoma other than adenocarcinoma (p= 0.044) and rectum tumors (p= 0.039) were more prevalent in EOCRC. LOCRC patients were more likely to have smoking history (p < 0.001) and right colon tumors (p = 0.039). Alcohol consumption history (odds ratio [OR]: 3.375, 95 %CI: 1.022-11.150) and stage IV (OR: 12.632, 95 %CI: 3.506-45.513) were associated with higher one-year all-cause mortality among advanced-stage patients, the opposite was noted with left colon tumors (OR: 0.045, 95 %CI: 0.003-0.588). CONCLUSION: EOCRC was predominantly sporadic and had more cases of uncommon histological subtypes and rectal tumors. LOCRC was characterized by a higher prevalence of smoking history. Multivariate regression revealed an association between higher one-year all-cause mortality and alcohol consumption history and stage IV in advanced-stage patients. CRC exhibited differences based on age of onset. The evaluated factors associated with CRC mortality provide valuable insights for healthcare professionals, emphasizing the importance of adequate clinical assessment and early CRC diagnosis.
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Idade de Início , Neoplasias Colorretais , Neoplasias Colorretais/complicações , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/mortalidade , Neoplasias Colorretais/patologia , Humanos , Colômbia , Estudos Retrospectivos , Estudos de Coortes , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Estadiamento de Neoplasias , Comorbidade , Carcinoma/epidemiologia , Carcinoma/mortalidade , Carcinoma/patologia , Adenocarcinoma/epidemiologia , Adenocarcinoma/mortalidade , Adenocarcinoma/patologia , Fumar/epidemiologiaRESUMO
ABSTRACT Objective: To evaluate the prevalence of hidden neuraxial pathology (NAP) revealed in idiopathic scoliosis (IS) in neurologically normal patients. Methods: We selected 401 patients with IS who visited our clinic. We identified patterns of NAP and its frequency. In addition to the main part of the study, we assessed the reliability of Magnetic Resonance Imaging (MRI) measuring of the pedicles to plan screw width and trajectory. Results: Among the 401 patients, 53 (13%) presented NAP. The proportion of males in this group was higher (42% vs. 21%, p=0.004), the age of onset of the deformity was lower (8.9±3.77 vs. 9.9±3.93 years old, p=0.045), the left-sided thoracic curve was more frequent (21% vs. 8%, p=0.016), thoracic kyphosis was more pronounced (p=0.070), and the percentage of revision surgeries for deformity progression or non-fusion was higher (13% vs. 5%, p=0.147). Conclusions: The spine MRI should be performed in the early stages of IS, as in some cases of NAP (Chiari, tethered spinal cord), there is the possibility of an early neurosurgical operation that will prevent the development of scoliosis. The main signs of hidden NAP in IS are early-onset IS, IS with left-sided thoracic curve, male gender, and thoracic kyphosis > 40°Cobb. Level of Evidence II; Retrospective Study.
Resumo: Objetivo: Avaliar a prevalência das patologias neuroaxiais ocultas (PNO) reveladas na escoliose idiopática (EI) em pacientes neurologicamente normais. Métodos: Foram selecionados 401 pacientes com EI que visitaram nossa clínica. Identificamos padrões de PNO e sua frequência. Além disso, avaliamos a confiabilidade da medição por ressonância magnética (RM) dos pedículos para planejar a largura e a trajetória do parafuso. Resultados: Entre os 401 pacientes, 53 (13%) apresentaram PNO. A proporção de homens neste grupo foi maior (42% contra 21%, p=0,004), a idade de início da deformidade foi menor (8,9±3,77 contra 9,9±3,93 anos, p=0,045), a curva torácica do lado esquerdo foi mais frequente (21% contra 8%, p=0,016), a cifose torácica foi mais pronunciada (p=0,070) e a porcentagem de cirurgias de revisão para progressão da deformidade ou não fusão foi maior (13% contra 5%, p=0,147). Conclusões: A ressonância magnética da coluna deve ser realizada nos estágios iniciais da EI, pois em alguns casos de PNO (Chiari, medula espinhal amarrada) existe a possibilidade de uma operação neurocirúrgica precoce que impedirá o desenvolvimento de escoliose. Os principais sinais de PNO oculta na EI são: EI de início precoce, EI com curvatura torácica à esquerda, sexo masculino e cifose torácica > 40°Cobb. Nível de Evidência II; Estudo Retrospectivo.
Resumen: Objetivo: Evaluar la prevalencia de las patologías neuroaxiales ocultas (PNO) reveladas en la escoliosis idiopática (EI) en pacientes neurológicamente normales. Métodos: Se seleccionaron 401 pacientes con EI que visitaron nuestra clínica. Se identificaron patrones de PNO y su frecuencia. Además, evaluamos la fiabilidad de la medición por resonancia magnética (RM) de los pedículos para planificar la anchura y la trayectoria del tornillo. Resultados: Entre los 401 pacientes, 53 (13%) presentaron PNO. La proporción de hombres en este grupo fue mayor (42% vs 21%, p=0,004), la edad de aparición de la deformidad fue menor (8,9±3,77 vs 9,9±3,93 años edad, p=0,045), la curva torácica del lado izquierdo se encontró con más frecuencia (21 % frente a 8 %, p=0,016), la cifosis torácica fue más pronunciada (p=0,070) y el porcentaje de cirugías de revisión por progresión de la deformidad o falta de fusión fue mayor (13% vs 5%, p=0,147). Conclusiones: La resonancia magnética de la columna debe realizarse en las primeras etapas de la EI, ya que en algunos casos de PNO (Chiari, médula anclada) existe la posibilidad de una operación neuroquirúrgica temprana que prevendrá el desarrollo de la escoliosis. Los principales signos de PNO oculta en EI son: EI de inicio temprano, EI con curvatura torácica izquierda, sexo masculino y cifosis torácica > 40°Cobb. Nivel de Evidencia II; Estudio Retrospectivo.
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Humanos , Masculino , Feminino , Escoliose , Medula Espinal , Idade de Início , CifoseRESUMO
In Alzheimer's disease (AD), the age of onset (AoO) exhibits considerable variability, spanning from 40 to 90 years. Specifically, individuals diagnosed with AD and exhibiting symptoms prior to the age of 65 are typically classified as early onset (EOAD) cases. Notably, the apolipoprotein E (APOE) ε4 allele represents the most extensively studied genetic risk factor associated with AD. We clinically characterized and genotyped the APOEε4 allele from 101 individuals with a diagnosis of EOAD, and 69 of them were affected carriers of the autosomal dominant fully penetrant PSEN1 variant c.1292C>A (rs63750083, A431E) (PSEN1+ group), while there were 32 patients in which the genetic cause was unknown (PSEN1- group). We found a correlation between the AoO and the APOEε4 allele; patients carrying at least one APOEε4 allele showed delays, in AoO in patients in the PSEN1+ and PSEN1- groups, of 3.9 (p = 0.001) and 8.6 years (p = 0.012), respectively. The PSEN1+ group presented higher frequencies of gait disorders compared to PSEN1- group, and apraxia was more frequent with PSEN1+/APOE4+ than in the rest of the subgroup. This study shows what appears to be an inverse effect of APOEε4 in EOAD patients, as it delays AoO and modifies clinical manifestations.
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Doença de Alzheimer , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Pessoa de Meia-Idade , Idade de Início , Alelos , Doença de Alzheimer/diagnóstico , Apolipoproteína E4/genética , Genótipo , Presenilina-1/genéticaRESUMO
Introduction: In the Aguascalientes, most people who seek treatment go to non-governmental residential centers, and about half request treatment for meth use. Although some barriers to treatment seeking among these users are known, few studies have been conducted with the Mexican population, specifically with users of residential centers. The aim of this study was to explore the main barriers reported by these patients, the relationship between reported barriers and meth use, as well as identify possible user profiles based on the barriers and the pattern of consumption. Methods: We designed a brief survey that evaluated sociodemographic data, consumption pattern, help-seeking for consumption and use of services, barriers in the search for services, depression, and suicide attempts. Here, we report the results of barriers and consumption patterns. The study sample consisted of 865 individuals receiving treatment for meth use in 23 certified residential centers. Results: Patients reported an average of 2.12 barriers, the main ones being not considering the services useful for them (41.6%), not considering it important to attend (35%), and not finding time to attend the consultation (29.8%). We found a statistically significant relationship, although weak, between the number of barriers reported by participants and the age of onset of meth use, dangerous perception of meth use, attempts to quit, and the number of problems associated with use. We used a cluster analysis that was performed using the k-means machine learning algorithm, which revealed two clusters. The first was formed by patients who started using meth at a young age which has more problems associated with meth use and more barriers in seeking services, while the other was formed by patients who started at an older age which have fewer problems and fewer barriers. We found statistical differences between groups, where it was found that young group reported consuming more substances, more problems associated, and more barriers in seeking services. Discussions: This study revealed the main barriers to seeking treatment among patients in residential centers and found that the age of onset of meth use is a risk factor for presenting more barriers and more problems associated with consumption.
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Autoimmune blistering diseases such as bullous pemphigoid (BP) and pemphigus vulgaris (PV) are complex, multifactorial, and polygenic diseases, whose exact pathogenesis is difficult to pinpoint. Research aimed at elucidating the associated epidemiologic risk factors of these two diseases has been hampered by their rare disease status. Further, a lack of centralization and standardization of available data makes the practical application of this information challenging. In order to collate and clarify the available literature we comprehensively reviewed 61 PV articles from 37 different countries and 35 BP articles from 16 different countries addressing a range of disease relevant clinical parameters including age of onset, sex, incidence, prevalence, and HLA allele association. The reported incidence of PV ranged from 0.098 to 5 patients per 100,000 people, while BP ranged from 0.21 to 7.63 patients per 100,000. Prevalence of PV ranged from 0.38 to 30 per 100,000 people and BP ranged from 1.46 to 47.99 per 100,000. The mean age of onset in patients ranged from 36.5 to 71 years for PV and 64 to 82.6 years for BP. Female-to-male ratios ranged from 0.46 to 4.4 in PV and 1.01 to 5.1 in BP. Our analysis provides support for the reported linkage disequilibrium of HLA DRB1*0402 (an allele previously shown to be associated with PV) and DQB1*0302 alleles in Europe, North America, and South America. Our data also highlight that HLA DQB1*0503 (also known to be associated with PV) appears in linkage disequilibrium with DRB1*1404 and DRB1*1401, mainly in Europe, the Middle East, and Asian countries. The HLA DRB1*0804 allele was only associated with PV in patients of Brazilian and Egyptian descent. Only two HLA alleles were reported as associated with BP more than twice in our review, DQB1*0301 and DQA1*0505. Collectively, our findings provide detailed insights into the variation of disease parameters relevant to PV and BP that can be expected to inform future work aimed at unraveling the complex pathogenesis of these conditions across the globe.
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Doenças Autoimunes , Penfigoide Bolhoso , Pênfigo , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Pênfigo/epidemiologia , Pênfigo/genética , Cadeias HLA-DRB1/genética , Penfigoide Bolhoso/epidemiologia , Penfigoide Bolhoso/genética , Predisposição Genética para Doença , Haplótipos , Fatores Epidemiológicos , BrasilRESUMO
INTRODUCTION: Genetic associations with Alzheimer's disease (AD) age at onset (AAO) could reveal genetic variants with therapeutic applications. We present a large Colombian kindred with autosomal dominant AD (ADAD) as a unique opportunity to discover AAO genetic associations. METHODS: A genetic association study was conducted to examine ADAD AAO in 340 individuals with the PSEN1 E280A mutation via TOPMed array imputation. Replication was assessed in two ADAD cohorts, one sporadic early-onset AD study and four late-onset AD studies. RESULTS: 13 variants had p<1×10-7 or p<1×10-5 with replication including three independent loci with candidate associations with clusterin including near CLU. Other suggestive associations were identified in or near HS3ST1, HSPG2, ACE, LRP1B, TSPAN10, and TSPAN14. DISCUSSION: Variants with suggestive associations with AAO were associated with biological processes including clusterin, heparin sulfate, and amyloid processing. The detection of these effects in the presence of a strong mutation for ADAD reinforces their potentially impactful role.
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Doença de Alzheimer , Clusterina , Humanos , Clusterina/genética , Colômbia , Doença de Alzheimer/diagnóstico , Mutação/genética , Amiloide , Presenilina-1/genética , Idade de InícioRESUMO
OBJECTIVE: To investigate why certain at-risk individuals develop celiac disease (CD), we examined the association of proton pump inhibitors (PPI), histamine-2 receptor antagonists (H2RAs), and antibiotic prescriptions in the first 6 months of life with an early childhood diagnosis of CD. STUDY DESIGN: A retrospective cohort study was performed using the Military Healthcare System database. Children with a birth record from October 1, 2001, to September 30, 2013, were identified. Outpatient prescription records were queried for antibiotic, PPI, and H2RA prescriptions in the first 6 months of life. Cox proportional hazards regression was used to calculate the hazard ratio (HR) of developing CD based on medication exposure. International Classification of Diseases, Ninth Revision, Clinical Modification codes identified children with an outpatient visit for CD. RESULTS: There were 968â524 children who met the inclusion criteria with 1704 cases of CD in this group. The median follow-up for the cohort was approximately 4.5 years. PPIs (HR, 2.23; 95% CI, 1.76-2.83), H2RAs (HR, 1.94; 95% CI, 1.67-2.26), and antibiotics (HR, 1.14; 95% CI, 1.02-1.28) were all associated with an increased hazard of CD. CONCLUSIONS: There is an increased risk of developing CD if antibiotics, PPIs and H2RAs are prescribed in the first 6 months of life. Our study highlights modifiable factors, such as medication stewardship, that may change the childhood risk of CD.
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Antibacterianos , Doença Celíaca , Criança , Humanos , Lactente , Pré-Escolar , Estudos Retrospectivos , Antibacterianos/efeitos adversos , Inibidores da Bomba de Prótons/efeitos adversos , Antagonistas dos Receptores H2 da Histamina/efeitos adversos , Fatores de RiscoRESUMO
We investigated the substance-specific and cross-substance risk associated with early onset (before age 15) of drunkenness and cannabis use in the subsequent development of alcohol (AUD) and cannabis use disorder (CUD) in Mexican American young adults. Survival analyses employed Cox proportional hazards models for AUD and CUD, separately. In cross-risk analyses, we modeled estimates for those participants reporting lifetime use of both substances. Early onset of drunkenness and early onset of cannabis use were associated with shorter time to AUD and CUD, respectively, even after accounting for psychiatric disorders. While there were no cross-risk associations, adjusting for psychiatric disorders and early onset cannabis use attenuated the association of early drunkenness with AUD.
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Individuals with PTSD have an increased risk of drug use disorders. Conversely, we aim to evaluate how early onset of alcohol, tobacco and psychoactive drugs use are associated with PTSD later in life. 2,193 brazilian young adults completed modularized assessments: The Trauma History Questionnaire, Post-Traumatic Stress Disorder Checklist-Civilian Version (PCL-C, transformed to PCL-5 through a crosswalk procedure), the Barratt Impulsivity Scale; and a survey on drug use with self-report questions about first use, current use, frequency, quantity, and interpersonal consequences. Bayesian inference and multivariate regression models were used to examine the effects on the risk of PTSD, considering different assumptions of information flow. Raw and unbiased (multivariate) estimates consistently revealed that earlier age of onset of alcohol and tobacco use increased risk for PTSD (Odds-ratios between 2.39 and 3.19 (Alcohol) and 1.82 to 2.05 (Tobacco). Among those who had PTSD (310), 10.3% (32) were very precocious at the onset age (12 to 18 years) of alcohol consumption (No-PTSD: 89 out 1883, 4.7%). Data supports a model in which age of onset effects are partially mediated by the number of trauma exposures. Early intoxication might suggest vulnerability for qualifying trauma events, or it may increase chances of exposure. Also, PTSD may be more likely to occur among trauma-exposed individuals with early intoxicating experiences due to alcohol or drug self-administration. The last possibility resonates with the idea that early intoxication might disrupt adolescent brain development, with a subsequent reduction in resilience when qualifying trauma events occur.
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Preparações Farmacêuticas , Transtornos de Estresse Pós-Traumáticos , Adolescente , Consumo de Bebidas Alcoólicas , Teorema de Bayes , Censos , Criança , Humanos , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Adulto JovemRESUMO
ABSTRACT Bipolar disorder (BD) has a large hereditary component. It is a disorder that begins in early adulthood, but about which it has been described a premorbid period preceding the onset of BD. During this herald expression psychiatric disorders and symptoms, such as depressive, manic, psychotic, anxious and others, may appear. Objective: To determine the psychopathological profile of a Bipolar Offspring (BO) group compared with the Community Control Offspring (CCO) group, and its evolution over time, including subthreshold symptoms and mental disorders. Methods: We conducted an observational mixed cohort study, with a prospective design. We included subjects from six to 30 years of age, from the region of Antioquia, Colombia. A total of 131 subjects from the risk group BO and 150 subjects from the CCO group were evaluated through validated psychiatric diagnostic interviews (K-SADS-PL and DIGS) at baseline and at 4 years follow up. All interviews were carried out by a staff blind to parent diagnoses. Follow-up assessment were complete in 72% of the offspring. Forty-two subjects were excluded as they surpassed the age of 30 years, and only 46 subjects were not followed (change of address or did not consent to participate). Results: Compared with the CCO group, the BO group had a higher frequency of affective disorder, psychotic disorder, externalizing disorders and use of the psychoactive substances during both assessments at time 1 and 2. The magnitude of the differences between the groups increased when they reach time 2. The BO group had a greater risk for presenting subthreshold symptoms and definitive psychiatric disorders, such as affective disorders, psychotic disorders and externalizing disorders. In addition, the BO group had a younger age of onset for psychoactive substances consumption. Conclusion: During the follow-up period, the BO group had a higher risk of presenting mental disorders compared with the CCO group. The most relevant symptoms and disorders that could precede the onset of BD were depressive, bipolar not otherwise specified, psychotic and substance use.
RESUMEN El trastorno bipolar (TB) tiene un gran componente hereditario. Es un trastorno que comienza en la edad adulta temprana, pero acerca del cual se ha descrito un período premórbido que precede al inicio de TB. Durante esta expresión heraldo, pueden aparecer trastornos y síntomas psiquiátricos, como depresivos, maníacos, psicóticos, ansiosos y otros. Objetivo: Determinar el perfil psicopatológico de un grupo de hijos de padres con TB (BO) en comparación con el grupo de hijos de padres control de la misma comunidad (CCO), y su evolución en el tiempo. Los síntomas subumbrales y los trastornos mentales serán incluidos. Métodos: Nosotros llevamos a cabo un estudio observacional mixto de cohorte, con diseño prospectivo. Incluimos sujetos de seis a 30 anos de edad, de la región de Antioquia, Colombia. Un total de 131 sujetos del grupo de riesgo BO y 150 sujetos del grupo CCO fueron evaluados a través de entrevistas de diagnóstico psiquiátricas validadas (K-SADS-PL y DIGS), al inicio yalos4anos de seguimiento. Todas las entrevistas se llevaron a cabo por personal ciego a los diagnósticos de los padres. La evaluación de seguimiento se completó en el 72% de la descendencia. Cuarenta y dos sujetos fueron excluidos ya que superaron la edad de 30 anos, y solo 46 sujetos no fueron seguidos (cambio de dirección o no dieron su consentimiento para participar). Resultados: En comparación con el grupo CCO, el grupo BO tuvo una mayor frecuencia de trastorno afectivo, el trastorno psicótico, los trastornos de externalización y el uso de las sustancias psicoactivas durante ambas evaluaciones en los tiempos 1 y 2. La magnitud de las diferencias entre los grupos aumentó cuando alcanzaron el tiempo 2. El grupo BO tuvo un mayor riesgo de presentar síntomas subumbrales y trastornos psiquiátricos definitivos, tales como trastornos afectivos, trastornos psicóticos y trastornos de externalización. Además, el grupo BO tuvo una edad de comienzo más baja para el consumo de sustancias psicoactivas. Conclusión: Durante el período de seguimiento, el grupo BO tuvo un mayor riesgo de presentar trastornos mentales en comparación con el grupo CCO. Los síntomas y trastornos más importantes que preceden al inicio del TB fueron: depresivo, bipolar no especificado de otra manera, psicóticos y el uso de sustancias.