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1.
Gastroenterol. hepatol. (Ed. impr.) ; 46(5): 382-396, May. 2023. ilus, tab
Article in English | IBECS | ID: ibc-220010

ABSTRACT

Introduction: Hepatitis C virus (HCV) infection is a global health problem that can results in cirrhosis, hepatocellular carcinoma and even death. HCV infection is 3–20-fold more prevalent among patients with versus without severe mental illness (SMI), such as major depressive disorder, personality disorder, bipolar disorder and schizophrenia. Treatment options for HCV were formerly based on pegylated interferon alpha, which is associated with neuropsychiatric adverse events, and this contributed to the exclusion of patients with SMI from HCV treatment, elimination programmes, and clinical trials. Moreover, the assumption of poor adherence, scant access to healthcare and the stigma and vulnerability of this population emerged as barriers and contributed to the low rates of treatment and efficacy. Methods: This paper reviews the literature published between December 2010 and December 2020 exploring the epidemiology of HCV in patients with SMI, and vice versa, the effect of HCV infection, barriers to the management of illness in these patients, and benefits of new therapeutic options with pangenotypic direct antiviral agents (DAAs). Results: The approval of DAAs has changed the paradigm of HCV infection treatment. DAAs have proven to be an equally efficacious and safe option that improves quality of life (QoL) in patients SMI. Conclusions: Knowledge of the consequences of the HCV infection and the benefits of treatment with new pangenotypic DAAs among psychiatrists can increase screening, referral and treatment of HCV infection in patients with SMI.(AU)


Introducción: La infección por el virus de la hepatitis C (VHC) es un problema de salud mundial que puede provocar cirrosis, carcinoma hepatocelular e incluso la muerte. La infección por el VHC es de 3 a 20 veces más prevalente entre los pacientes con enfermedades mentales graves (EMG), como el trastorno depresivo mayor, el trastorno de personalidad, el trastorno bipolar y la esquizofrenia. Las opciones de tratamiento para el VHC se basaban anteriormente en el interferón pegilado alfa, que se asocia con efectos adversos neuropsiquiátricos, y esto contribuyó a la exclusión de los pacientes con EMG del tratamiento del VHC, tanto de los programas de eliminación como de los ensayos clínicos. Además, la mala adherencia terapéutica, el escaso acceso de los pacientes a la asistencia sanitaria y el estigma y la vulnerabilidad de esta población surgieron como barreras y contribuyeron a las bajas tasas de tratamiento y eficacia. Métodos: En este trabajo se revisa la literatura publicada entre diciembre de 2010 y diciembre de 2020 en la que se explora la epidemiología del VHC en pacientes con EMG, y vice versa, el efecto de la infección por VHC, las barreras para el manejo de la enfermedad en estos pacientes y los beneficios de las nuevas opciones terapéuticas con agentes antivirales directos pangenotípicos (AAD). Resultados: La aprobación de los AAD ha cambiado el paradigma del tratamiento de la infección por VHC. Los AAD han demostrado ser una opción igualmente eficaz y segura que mejora la calidad de vida (QoL) en los pacientes SMI. Conclusiones: El conocimiento de las consecuencias de la infección por el VHC y los beneficios del tratamiento con los nuevos AAD pangenotípicos entre los psiquiatras puede aumentar el cribado, la derivación y el tratamiento de la infección por el VHC en pacientes con EMG.(AU)


Subject(s)
Humans , Hepacivirus , Antiviral Agents , Fibrosis , Schizophrenia , Bipolar Disorder , Drug Resistance, Viral , Hepatitis C
2.
Gastroenterol Hepatol ; 46(5): 382-396, 2023 May.
Article in English, Spanish | MEDLINE | ID: mdl-35718017

ABSTRACT

INTRODUCTION: Hepatitis C virus (HCV) infection is a global health problem that can results in cirrhosis, hepatocellular carcinoma and even death. HCV infection is 3-20-fold more prevalent among patients with versus without severe mental illness (SMI), such as major depressive disorder, personality disorder, bipolar disorder and schizophrenia. Treatment options for HCV were formerly based on pegylated interferon alpha, which is associated with neuropsychiatric adverse events, and this contributed to the exclusion of patients with SMI from HCV treatment, elimination programmes, and clinical trials. Moreover, the assumption of poor adherence, scant access to healthcare and the stigma and vulnerability of this population emerged as barriers and contributed to the low rates of treatment and efficacy. METHODS: This paper reviews the literature published between December 2010 and December 2020 exploring the epidemiology of HCV in patients with SMI, and vice versa, the effect of HCV infection, barriers to the management of illness in these patients, and benefits of new therapeutic options with pangenotypic direct antiviral agents (DAAs). RESULTS: The approval of DAAs has changed the paradigm of HCV infection treatment. DAAs have proven to be an equally efficacious and safe option that improves quality of life (QoL) in patients SMI. CONCLUSIONS: Knowledge of the consequences of the HCV infection and the benefits of treatment with new pangenotypic DAAs among psychiatrists can increase screening, referral and treatment of HCV infection in patients with SMI.


Subject(s)
Depressive Disorder, Major , Hepatitis C, Chronic , Hepatitis C , Humans , Antiviral Agents/therapeutic use , Hepacivirus , Quality of Life , Hepatitis C, Chronic/drug therapy , Hepatitis C, Chronic/complications , Depressive Disorder, Major/drug therapy , Depressive Disorder, Major/chemically induced , Depressive Disorder, Major/complications , Hepatitis C/drug therapy
3.
Rev Esp Enferm Dig ; 115(8): 414-417, 2023 08.
Article in English | MEDLINE | ID: mdl-36454075

ABSTRACT

Ascites is the most frequent complication of cirrhosis and carries with it a high morbidity and mortality. The results of the ANSWER study and others like it open the possibility of considering the prolonged administration of albumin, as an effective and safe treatment in patients with decompensated cirrhosis, capable of modifying their natural history, allowing a better control of ascites, a lower incidence of other complications of portal hypertension, and an increased survival. For this, it is necessary the administration of albumin with the appropriate dose and duration to restore their physiological conditions. However, new studies are needed to confirm the efficacy and safety of prolonged administration of albumin in patients with decompensated cirrhosis and to identify the subpopulation of patients that benefit the most, the appropriate dose and duration, serum-clinical markers of response, the necessary logistics to facilitate its application and its cost-effectiveness in the different health systems.


Subject(s)
Ascites , Hypertension, Portal , Humans , Ascites/drug therapy , Ascites/etiology , Albumins/adverse effects , Liver Cirrhosis/complications , Hypertension, Portal/complications , Hypertension, Portal/drug therapy
4.
Postgrad Med ; 135(4): 352-360, 2023 May.
Article in English | MEDLINE | ID: mdl-36305320

ABSTRACT

OBJECTIVES: Second-generation direct-acting antivirals (DAAs) have shown high efficacy in the treatment of chronic hepatitis C virus (HCV) infections in clinical trials. This study aimed to estimate the effectiveness in real-life conditions and their capacity to eliminate HCV infection in the general population. METHODS: In this observational cohort study, patients with active HCV infection who commenced DAA treatment between 2015 and 2020 in Navarre, Spain, were studied. Sustained virological response (SVR), defined as an undetectable viral load 12 weeks after the end of treatment, was evaluated until the end of 2021. RESULTS: Of a total 1366 HCV-infected patients that commenced treatment, 19.3% (n = 263) were HIV-coinfected. After the first DAA treatment, SVR was achieved in 96.6% (n = 1320/1366) of patients and in 97.7% (95% confidence interval [CI] 96.6%-98.3%) of those who completed treatment (per-protocol analysis; n = 1320/1351). SVR was achieved in 97.9% (n = 1066/1089) and 96.9% (n = 254/262) of mono-infected and HIV-coinfected patients, respectively. Thirty-one patients had virological failure due to non-response (n = 19), poor compliance (n = 9), and with adverse events (n = 3). Of 27 patients that received a second treatment, 24 attained SVR (one after a third treatment), two died, and one that did not achieve SVR declined a third treatment. Three patients were re-infected, re-treated, and achieved SVR. At the end of the study, 1344 patients (98.4%, 95% CI 97.6%-98.9%) had achieved SVR, and only 1.8% needed more than one course of treatment. All patients who completed the treatment and were followed-up achieved SVR. CONCLUSION: With DAAs, SVR was achieved in all patients with active HCV infection who completed follow-up, and a second course of treatment was only necessary in a small proportion of patients. Adherence to treatment is essential for HCV infection elimination.


Subject(s)
HIV Infections , Hepatitis C, Chronic , Hepatitis C , Humans , Antiviral Agents/therapeutic use , Hepatitis C, Chronic/drug therapy , Feasibility Studies , Goals , Treatment Outcome , Hepatitis C/drug therapy , Hepatitis C/chemically induced , Hepacivirus , Sustained Virologic Response , HIV Infections/drug therapy
6.
Liver Int ; 41(7): 1532-1544, 2021 07.
Article in English | MEDLINE | ID: mdl-33550706

ABSTRACT

BACKGROUND AND OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD) management is focused on lifestyle modifications, but long-term maintenance is a challenge for many individuals. This study aimed to evaluate the long-term effects of two personalized energy-restricted dietary strategies on weight loss, metabolic and hepatic outcomes in overweight/obese subjects with NAFLD. METHODS: Ninety-eight subjects from the Fatty Liver in Obesity (FLiO) study (NCT03183193) were randomly assigned to the American Heart Association (AHA) or the FLiO dietary group in a 2-year controlled trial. Anthropometry, body composition (DXA), biochemical parameters and hepatic status (ultrasonography, Magnetic Resonance Imaging, and elastography) were assessed at baseline, 6, 12 and 24 months. RESULTS: Both the AHA and FLiO diets significantly reduced body weight at 6 (-9.7% vs -10.1%), 12 (-6.7% vs -9.6%), and 24 months (-4.8% vs -7.6%) with significant improvements in body composition, biochemical and liver determinations throughout the intervention. At the end of the follow-up, the FLiO group showed a greater decrease in ALT, liver stiffness and Fatty Liver Index, among others, compared to AHA group, although these differences were attenuated when the analyses were adjusted by weight loss percentage. The FLiO group also showed a greater increase in adiponectin compared to AHA group. CONCLUSIONS: The AHA and FLiO diets were able to improve body weight and body composition, as well as metabolic and hepatic status of participants with overweight/obesity and NAFLD within a 2-year follow-up. These findings show that both strategies are suitable alternatives for NAFLD management. However, the FLiO strategy may provide more persistent benefits in metabolic and hepatic parameters.


Subject(s)
Non-alcoholic Fatty Liver Disease , Body Weight , Diet , Humans , Liver , Non-alcoholic Fatty Liver Disease/diagnostic imaging , Obesity , Weight Loss
7.
Nutrients ; 11(10)2019 Oct 22.
Article in English | MEDLINE | ID: mdl-31652512

ABSTRACT

The prevalence of nonalcoholic fatty liver disease (NAFLD) is increasing worldwide. NAFLD management is mainly focused on weight loss, but the optimal characteristics of the diet demand further investigation. This study aims to evaluate the effects of two personalized energy-restricted diets on the liver status in overweight or obese subjects with NAFLD after a 6 months follow-up. Ninety-eight individuals from the Fatty Liver in Obesity (FLiO) study were randomized into two groups and followed different energy-restricted diets. Subjects were evaluated at baseline and after 6 months. Diet, anthropometry, body composition, and biochemical parameters were evaluated. Liver assessment included ultrasonography, Magnetic Resonance Imaging, elastography, and determination of transaminases. Both dietary groups significantly improved their metabolic and hepatic markers after the intervention, with no significant differences between them. Multivariate regression models evidenced a relationship between weight loss, adherence to the Mediterranean Diet (MedDiet), and a decrease in liver fat content, predicting up to 40.9% of its variability after 6 months. Moreover, the antioxidant capacity of the diet was inversely associated with liver fat content. Participants in the group with a higher adherence to the MedDiet showed a greater reduction in body weight, total fat mass, and hepatic fat. These results support the benefit of energy-restricted diets, high adherence to the MedDiet, and high antioxidant capacity of the diet for the management of NAFLD in individuals with overweight or obesity.


Subject(s)
Caloric Restriction , Diet, Mediterranean , Non-alcoholic Fatty Liver Disease , Obesity , Adult , Aged , Aged, 80 and over , Exercise , Female , Humans , Liver/physiopathology , Male , Middle Aged , Non-alcoholic Fatty Liver Disease/complications , Non-alcoholic Fatty Liver Disease/diet therapy , Non-alcoholic Fatty Liver Disease/physiopathology , Obesity/complications , Obesity/diet therapy , Obesity/physiopathology , Weight Loss/physiology
8.
Nutrients ; 11(2)2019 Feb 02.
Article in English | MEDLINE | ID: mdl-30717355

ABSTRACT

The relevance of sleep patterns in the onset or evolution of nonalcoholic fatty liver disease (NAFLD) is still poorly understood. Our aim was to investigate the association between sleep characteristics and hepatic status indicators in obese people with NAFLD compared to normal weight non-NAFLD controls. Ninety-four overweight or obese patients with NAFLD and 40 non-NAFLD normal weight controls assessed by abdominal ultrasonography were enrolled. Hepatic status evaluation considered liver stiffness determined by Acoustic Radiation Force Impulse elastography (ARFI) and transaminases. Additionally, anthropometric measurements, clinical characteristics, and biochemical profiles were determined. Sleep features were evaluated using the Pittsburgh Sleep Quality Index (PSQI). Hepatic status parameters, anthropometric measurements, and clinical and biochemical markers differed significantly in NAFLD subjects compared to controls, as well as sleep efficiency, sleep disturbance score, and sleep quality score. In the NAFLD group, a higher prevalence of short sleep duration (p = 0.005) and poor sleep quality (p = 0.041) were found. Multivariate-adjusted odds ratio (95% confidence interval) for NAFLD considering sleep disturbance was 1.59 (1.11⁻2.28). Regression models that included either sleep disturbance or sleep quality predicted up to 20.3% and 20.4% of the variability of liver stiffness, respectively, and after adjusting for potential confounders. Current findings suggest that sleep disruption may be contributing to the pathogenesis of NAFLD as well as the alteration of the liver may be affecting sleep patterns. Consequently, sleep characteristics may be added to the list of modifiable behaviors to consider in health promotion strategies and in the prevention and management of NAFLD.


Subject(s)
Body Mass Index , Body Weight , Liver/pathology , Non-alcoholic Fatty Liver Disease/pathology , Obesity/complications , Sleep Wake Disorders/complications , Sleep , Adult , Biomarkers , Case-Control Studies , Female , Hardness , Humans , Liver/enzymology , Male , Middle Aged , Non-alcoholic Fatty Liver Disease/etiology , Odds Ratio , Overweight , Transaminases/blood
9.
Int J Med Sci ; 16(1): 75-83, 2019.
Article in English | MEDLINE | ID: mdl-30662331

ABSTRACT

INTRODUCTION: Non-alcoholic fatty liver disease (NAFLD) may progress to steatohepatitis, cirrhosis and complicated hepatocellular carcinoma with defined differential symptoms and manifestations. OBJECTIVE: To evaluate the fatty liver status by several validated approaches and to compare imaging techniques, lipidomic and routine blood markers with magnetic resonance imaging in adults subjects with non-alcoholic fatty liver disease. MATERIALS AND METHODS: A total of 127 overweight/obese with NAFLD, were parallelly assessed by Magnetic Resonance Imaging (MRI), ultrasonography, transient elastography and a validated metabolomic designed test to diagnose NAFLD in this cross-sectional study. Body composition (DXA), hepatic related biochemical measurements as well as the Fatty Liver Index (FLI) were evaluated. This study was registered as FLiO: Fatty Liver in Obesity study; NCT03183193. RESULTS: The subjects with more severe liver disease were found to have worse metabolic parameters. Positive associations between MRI with inflammatory and insulin biomarkers were found. A linear regression model including ALT, RBP4 and HOMA-IR was able to explain 40.9% of the variability in fat content by MRI. In ROC analyses a combination panel formed of ALT, HOMA-IR and RBP4 followed by ultrasonography, ALT and metabolomic test showed the major predictive ability (77.3%, 74.6%, 74.3% and 71.1%, respectively) for liver fat content. CONCLUSIONS: A panel combination including routine blood markers linked to insulin resistance showed highest associations with MRI considered as a gold standard for determining liver fat content. This combination of tests can facilitate the diagnosis of early stages of non-alcoholic liver disease thereby avoiding other invasive and expensive methods.


Subject(s)
Non-alcoholic Fatty Liver Disease/blood , Non-alcoholic Fatty Liver Disease/diagnostic imaging , Adiposity , Adult , Biomarkers/blood , Cross-Sectional Studies , Elasticity Imaging Techniques , Female , Humans , Insulin/blood , Insulin Resistance , Magnetic Resonance Imaging , Male , Middle Aged , Non-alcoholic Fatty Liver Disease/complications , Obesity/blood , Obesity/complications , Obesity/diagnostic imaging , Ultrasonography
12.
Postgrad Med ; 129(4): 476-483, 2017 May.
Article in English | MEDLINE | ID: mdl-28343408

ABSTRACT

OBJECTIVES: Direct acting antivirals (DAA) are extremely effective to treat chronic hepatitis C. The aim of this study was to evaluate, by using objective variables, the safety of DAA combinations under clinical practice conditions. METHODS: A retrospective study was carried out in mono-infected patients with chronic hepatitis C treated with DAA between January and December 2015 in our centre. Discontinuations, treatment modifications, deaths and laboratory parameters were studied (liver function tests, hemoglobin, creatinine and lipid profile at baseline, weeks 4, 8 and post 12). Temporal variation of laboratory parameters was analyzed by t-test for paired data, and comparison between groups was made by t-test for independent samples and ANOVA. RESULTS: 227 patients were included (40.5% cirrhotic). Sustained virological response (SVR) was achieved in 97.3% of patients. In only one case was the antiviral medication suspended due to toxicity, and there were no voluntary treatment discontinuations. The use of ribavirin (RBV) was associated with mild transient hyperbilirubinemia (41.2%) and anemia (32.6%, with RBV dose reduction in 7.9% of cases). There was an elevation in total cholesterol and LDL-cholesterol (LDL-C) during and after treatment: mean increase of 23 mg/dL (0.59 mmol/L) and 22 mg/dL (0.57 mmol/L), respectively in post 12 (p < .0001). An increment of 20% of patients with cholesterol levels over optimal figures was observed after DAA completion. CONCLUSION: DAA have an optimum safety profile in real life conditions, with infrequent discontinuation and minor laboratory alterations.


Subject(s)
Antiviral Agents/therapeutic use , Hepatitis C, Chronic/drug therapy , Administration, Oral , Antiviral Agents/administration & dosage , Drug Combinations , Drug Monitoring , Drug Therapy, Combination , Female , Genotype , Hepatitis C, Chronic/genetics , Humans , Liver Cirrhosis/complications , Liver Function Tests , Male , Middle Aged , Retrospective Studies , Spain , Treatment Outcome
13.
J Am Med Dir Assoc ; 16(3): 215-20, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25441099

ABSTRACT

OBJECTIVES: To assess factors associated with functional recovery and determine the influence of cognitive impairment. DESIGN: Prospective cohort study. SETTING: Orthogeriatric rehabilitation ward. PARTICIPANTS: A total of 314 older adults (≥65 years) admitted for rehabilitation after a hip operation. MEASUREMENTS: Patients were stratified according to the Mini Mental State Examination into the following categories: severe cognitive impairment, scores 0 to 15; mild cognitive impairment, scores 16 to 23; and no cognitive impairment, scores ≥24. Their functional status, in terms of activities of daily living (ADLs), was recorded, and their ability to walk was measured with the Functional Ambulation Categories at 3 points in time: basal, on admission, and on discharge. We considered recovery of ADLs and ability to walk to be positive responses to rehabilitation treatment. RESULTS: Of the patients included, 285 finished the study (16 patients were moved to another hospital and 13 patients died) and 280 received rehabilitation treatment, with all 3 groups achieving functional gain (P < .01). Fifty-eight percent of patients recovered both the autonomy in ADLs they had before the fracture and the ability to walk (73.7% without cognitive impairment, 50% mild cognitive impairment, and 5% severe cognitive impairment) (P < .001). Previous walking ability (odds ratio [OR] 5.57, 95% confidence interval [CI] 2.41-12.74) together with the presence of pressure ulcers (OR 11.12, 95% CI 2.88-43.29) and delirium (OR 3.20, 95% CI 1.07-9.52) are sturdier predictive factors for functional recovery than the degree of cognitive impairment (OR 1.12, 95% CI 1.04-1.22). CONCLUSION: Previous walking ability and the presence of complications, such as pressure ulcers or delirium, play a greater role in functional recovery than cognitive impairment. Not considering these aspects could lead to an overestimation of the impact of cognitive impairment in the recovery of these patients.


Subject(s)
Activities of Daily Living , Cognition Disorders/diagnosis , Cognition Disorders/rehabilitation , Hip Fractures/rehabilitation , Recovery of Function/physiology , Aged , Aged, 80 and over , Cognition Disorders/epidemiology , Cohort Studies , Confidence Intervals , Female , Geriatric Assessment/methods , Hip Fractures/epidemiology , Hip Fractures/psychology , Humans , Logistic Models , Male , Multivariate Analysis , Neuropsychological Tests , Odds Ratio , Prospective Studies , Rehabilitation Centers , Risk Assessment , Severity of Illness Index , Spain , Time Factors , Treatment Outcome
15.
Gastroenterol. hepatol. (Ed. impr.) ; 37(7): 389-396, ago.-sept. 2014. tab
Article in Spanish | IBECS | ID: ibc-127202

ABSTRACT

INTRODUCCIÓN: La enfermedad de Wilson (EW) es un trastorno hereditario que cursa con depósito de cobre (Cu), provocando principalmente clínica hepática, neurológica y/o psiquiátrica. Ante la ausencia de algunos de sus rasgos típicos, el diagnóstico de la EW es difícil y se basa en la combinación de pruebas clínicas, analíticas y genéticas. El objetivo del estudio fue reflejar la complejidad del diagnóstico de la EW en la práctica clínica. MÉTODOS: Se realizó un análisis retrospectivo de la historia clínica de los pacientes diagnosticados de EW, describiendo la presentación clínica, hallazgos histológicos, analíticos y evolución tras tratamiento. Además se hizo estudio genético y se aplicó el «score» diagnóstico de Leipzig. RESULTADOS: Incluimos un total de 15 pacientes, 4 sintomáticos: clínica hepática (1), neurológica (1), psiquiátrica (1) y mixta (1) y 11 pacientes presintomáticos: hipertransaminasemia (8) y estudio familiar (3). Se objetivó anillo Kayser-Fleischer en 2 pacientes, ambos sin clínica neurológica. El 73% presentaba ceruloplasmina ≤5mg/dL y el 40% Cuo 24h>100μg. El Cu hepático superaba los 250μg/g t.s. en el 85% de los pacientes. El estudio genético (mutaciones gen ATP7B) permitió el diagnóstico final en 5 pacientes con mínimos rasgos de la enfermedad, uno de ellos sintomático (clínica psiquiátrica). Se identificaron 5 mutaciones previamente descritas (p.M645R, p.R827W, p.H1069Q, p.P768L y p.G869R) y 3 inéditas (p.L1313R, p.I1311T y p.A1179D), siendo p.M645R la mutación más frecuentemente encontrada. Tras el tratamiento se objetivó una mejoría de los parámetros analíticos (transaminasas, cupruria) y de la sintomatología, excepto en los pacientes con clínica neuropsiquiátrica. CONCLUSIONES: Nuestra serie refleja el papel relevante del estudio genético en el diagnóstico de EW. La identificación en nuestro medio de la mutación p.M645R en la mayoría de nuestros pacientes debe tenerse en cuenta en la estrategia para el análisis molecular del gen ATP7B en nuestra población


BACKGROUND: Wilson disease (WD) is an inherited disorder that causes copper (Cu) accumulation, leading to mainly liver, neurological and/or psychiatric manifestations. In the absence of some of the typical features, diagnosis of WD is difficult and is based on the combination of clinical, biochemical and genetic testing. The aim of this study was to illustrate the complexity of the approach to WD in daily clinical practice. METHODS: We retrospectively analyzed the medical records of patients with WD, including the clinical presentation, histological and biochemical findings, and follow up after treatment. We also carried out genetic testing, and the Leipzig diagnostic score was applied. RESULTS: We included 15 patients. Four were symptomatic, with liver (n=1), neurological (n=1), psychiatric (n=1) and mixed clinical manifestations (n=1), and 11 were presymptomatic, with elevated transaminases (n=8) and family study (n=3). We observed Kayser-Fleischer ring in 2 patients, both without neurologic symptoms. Ceruloplasmin ≤5mg/dL was present in 73%, and 24-hour urinary Cu>100μg in 40%. Liver Cu was >250μg/g.d.t. in 85% of the patients. The final diagnosis of WD was given by genetic testing (ATP7B gene mutations) in 5 patients with minimal disease features, including one symptomatic patient (psychiatric symptoms). We identified 5 previously reported mutations (p.M645R, p.R827W, p.H1069Q, p.P768L and p.G869R) and 3 unpublished mutations (p.L1313R, p.I1311T and p.A1179D); the most frequent mutation was p.M645R. After treatment, biochemical parameters (transaminases, urinary cooper) and symptoms improved, except in patients with neurological and psychiatric manifestations. CONCLUSIONS: Our series illustrates the important role of genetic testing in the diagnosis of WD. The identification of the p.M645R mutation in most of our patients should be kept in mind in the molecular analysis of the ATP7B gene in our region


Subject(s)
Humans , Male , Female , Child , Adolescent , Young Adult , Adult , Middle Aged , Hepatolenticular Degeneration/diagnosis , Ceruloplasmin/analysis , Copper/analysis , Genetic Testing/methods , Retrospective Studies , Genetic Markers
17.
Gastroenterol Hepatol ; 37(7): 389-96, 2014.
Article in Spanish | MEDLINE | ID: mdl-24720933

ABSTRACT

BACKGROUND: Wilson disease (WD) is an inherited disorder that causes copper (Cu) accumulation, leading to mainly liver, neurological and/or psychiatric manifestations. In the absence of some of the typical features, diagnosis of WD is difficult and is based on the combination of clinical, biochemical and genetic testing. The aim of this study was to illustrate the complexity of the approach to WD in daily clinical practice. METHODS: We retrospectively analyzed the medical records of patients with WD, including the clinical presentation, histological and biochemical findings, and follow up after treatment. We also carried out genetic testing, and the Leipzig diagnostic score was applied. RESULTS: We included 15 patients. Four were symptomatic, with liver (n=1), neurological (n=1), psychiatric (n=1) and mixed clinical manifestations (n=1), and 11 were presymptomatic, with elevated transaminases (n=8) and family study (n=3). We observed Kayser-Fleischer ring in 2 patients, both without neurologic symptoms. Ceruloplasmin ≤ 5 mg/dL was present in 73%, and 24-hour urinary Cu> 100 µg in 40%. Liver Cu was >250 µg/g.d.t. in 85% of the patients. The final diagnosis of WD was given by genetic testing (ATP7B gene mutations) in 5 patients with minimal disease features, including one symptomatic patient (psychiatric symptoms). We identified 5 previously reported mutations (p.M645R, p.R827W, p.H1069Q, p.P768L and p.G869R) and 3 unpublished mutations (p.L1313R, p.I1311T and p.A1179D); the most frequent mutation was p.M645R. After treatment, biochemical parameters (transaminases, urinary cooper) and symptoms improved, except in patients with neurological and psychiatric manifestations. CONCLUSIONS: Our series illustrates the important role of genetic testing in the diagnosis of WD. The identification of the p.M645R mutation in most of our patients should be kept in mind in the molecular analysis of the ATP7B gene in our region.


Subject(s)
Hepatolenticular Degeneration/diagnosis , Adolescent , Adult , Child , Diagnostic Tests, Routine , Female , Hepatolenticular Degeneration/genetics , Humans , Male , Middle Aged , Retrospective Studies , Young Adult
18.
Rev Esp Enferm Dig ; 104(9): 452-7, 2012 Sep.
Article in English | MEDLINE | ID: mdl-23130852

ABSTRACT

INTRODUCTION: exposure to ionizing radiation is associated with an increased risk of developing tumors. Patients with Crohn's disease (CD) usually require multiple imaging tests using this type of radiation. OBJECTIVES: the objectives of this study were to estimate the total dose of ionizing radiation received by patients with Crohn's disease during their course and to identify the factors associated with higher radiation doses. METHODS: two hundred thirty-five CD patients diagnosed between 1972 and 2010 were included. The effective dose (ED) received by each patient was calculated retrospectively based on the number of gastrointestinal transit studies and computed tomography scans performed. Considering recent epidemiological studies, an ED greater than or equal to 50 mSv was used as the cut-off point for increased risk of developing cancer. RESULTS: the mean ED received per patient was 33.4 mSv (95% CI 29.3-37.5). A total of 49 (20.8%) patients received an ED ≥ 50 mSv. The following factors were identified as independent predictors associated with an ED ≥ 50 mSv: Age older than 40 years, need for surgery, age under 16 years at diagnosis and disease duration over 8 years. CONCLUSIONS: a substantial proportion of patients with Crohn's disease receive high doses of potentially carcinogenic ionizing radiation. Identification of the most susceptible patients to receive high doses of radiation, monitoring of effective doses received and the use of imaging techniques that do not require ionizing radiation (MR enterography, abdominal ultrasound) could contribute in reducing patients' exposure to potentially carcinogenic ionizing radiation.


Subject(s)
Crohn Disease/diagnostic imaging , Neoplasms, Radiation-Induced/etiology , Tomography, X-Ray Computed/adverse effects , Adolescent , Adult , Aged , Aged, 80 and over , Breast Neoplasms/epidemiology , Breast Neoplasms/etiology , Carcinoma/epidemiology , Carcinoma/etiology , Dose-Response Relationship, Radiation , Female , Humans , Lymphoma, Non-Hodgkin/epidemiology , Lymphoma, Non-Hodgkin/etiology , Male , Middle Aged , Neoplasms, Radiation-Induced/epidemiology , Retrospective Studies , Seminoma/epidemiology , Seminoma/etiology , Skin Neoplasms/epidemiology , Skin Neoplasms/etiology , Testicular Neoplasms/epidemiology , Testicular Neoplasms/etiology , Vulvar Neoplasms/epidemiology , Vulvar Neoplasms/etiology , Young Adult
19.
Rev. esp. enferm. dig ; 104(9): 452-457, sept. 2012. tab
Article in Spanish | IBECS | ID: ibc-107419

ABSTRACT

Introducción: la exposición a radiación ionizante se asocia a un mayor riesgo de desarrollar tumores. Los pacientes con enfermedad de Crohn requieren habitualmente múltiples pruebas de imagen que utilizan este tipo de radiación. Objetivos: los objetivos de este estudio son estimar la dosis total de radiación ionizante recibida por pacientes con enfermedad de Crohn a lo largo de su evolución e identificar los factores asociados a dosis de radiación más altas. Métodos: se incluyeron 235 pacientes con enfermedad de Crohn diagnosticados entre 1972 y 2010. Se calculó retrospectivamente la dosis efectiva (DE) recibida por cada paciente, teniendo en cuenta los tránsitos gastrointestinales y las tomografías computarizadas que se habían realizado. Basados en estudios epidemiológicos previos, se consideró un valor umbral de DE ≥ 50 mSv de mayor riesgo de desarrollar cáncer. Resultados: la media de DE recibida por paciente fue 33,4 mSv (IC 95% 29,3-37,5). Un total de 49 (20,8%) pacientes recibió una DE >= 50 mSv. Se identificaron como factores predictivos independientes asociados a una DE >= 50 mSv: edad mayor de 40 años, necesidad de cirugía, edad al diagnóstico menor 16 años y tiempo de evolución mayor de 8 años. Conclusiones: un porcentaje considerable de pacientes con enfermedad de Crohn recibe dosis elevadas de radiación ionizante potencialmente carcinogénicas. La identificación de los pacientes mas susceptibles a recibir dosis altas de radiación, la monitorización de la dosis efectiva recibida y la utilización de pruebas de imagen que no utilizan radiación ionizante (enterorresonancia, ecografía abdominal), podrían contribuir a reducir la exposición a la radiaciones ionizantes potencialmente carcinogénicas(AU)


Introduction: exposure to ionizing radiation is associated with an increased risk of developing tumors. Patients with Crohn’s disease (CD) usually require multiple imaging tests using this type of radiation. Objectives: the objectives of this study were to estimate the total dose of ionizing radiation received by patients with Crohn’s disease during their course and to identify the factors associated with higher radiation doses. Methods: two hundred thirty-five CD patients diagnosed between 1972 and 2010 were included. The effective dose (ED) received by each patient was calculated retrospectively based on the number of gastrointestinal transit studies and computed tomography scans performed. Considering recent epidemiological studies, an ED greater than or equal to 50 mSv was used as the cut-off point for increased risk of developing cancer. Results: the mean ED received per patient was 33.4 mSv (95% CI 29.3-37.5). A total of 49 (20.8%) patients received an ED >= 50 mSv. The following factors were identified as independent predictors associated with an ED >= 50 mSv: Age older than 40 years, need for surgery, age under 16 years at diagnosis and disease duration over 8 years. Conclusions: a substantial proportion of patients with Crohn’s disease receive high doses of potentially carcinogenic ionizing radiation. Identification of the most susceptible patients to receive high doses of radiation, monitoring of effective doses received and the use of imaging techniques that do not require ionizing radiation (MR enterography, abdominal ultrasound) could contribute in reducing patients’ exposure to potentially carcinogenic ionizing radiation(AU)


Subject(s)
Humans , Male , Female , Crohn Disease/therapy , Crohn Disease , Risk Factors , Gastrointestinal Transit , Gastrointestinal Transit/physiology , Retrospective Studies , /methods , Gastrointestinal Transit/radiation effects , Data Analysis/methods , Multivariate Analysis
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