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1.
Cell Cycle ; 22(11): 1353-1356, 2023 06.
Article in English | MEDLINE | ID: mdl-37128635

ABSTRACT

The development of genomic technologies over the past decades has enabled identification of genetic variants responsible of disease; occasionally however, protective rare variants emerged. Verweij et al have recently reported genetic variants in CIDEB gene that are protective from liver injury. Here, we briefly summarise the recent findings on the impact of CIDEB variants on liver disease, while emphasizing how phenotype-genotype studies tailored for the identification of "protective" mutations might direct development of prevention and therapeutic strategies for common diseases.


Subject(s)
Genetic Predisposition to Disease , Genome , Humans , Mutation/genetics
2.
Rev. gastroenterol. Perú ; 38(3): 301-309, jul.-set. 2018. tab
Article in Spanish | LILACS | ID: biblio-1014100

ABSTRACT

Vibrio cholerae serogrupo NO-O1/NO-O139 (VCNO) es causa infrecuente de gastroenteritis. Sin embargo, se le asocia a infección extra-intestinal severa en huéspedes inmunocomprometidos, y entre ellas, la bacteremia en pacientes con cirrosis hepática es digna de mención. A continuación, presentamos el caso de una mujer de 58 años, con el diagnóstico de cirrosis hepática de fondo, que desarrolló progresivamente choque séptico, disfunción orgánica múltiple y desenlace fatal al cuarto día de su admisión. Los resultados obtenidos post mortem, de los hemocultivos previamente tomados, aislaron bacilos gram negativos compatibles con Vibrio cholerae. Posteriormente, se identificó el serogrupo NO-O1/NO-O139, a través de aglutinación en placa y PCR negativo para el gen ctxA. El antibiograma mostró susceptibilidad conservada a ampicilina, cloranfenicol, tetraciclina y ciprofloxacino, con resistencia al trimetoprim-sulfametoxazol. El presente caso, descrito en el Hospital Nacional Dos de Mayo, es hasta la fecha, el primer reporte de bacteremia VCNO en el Perú.


Non-O1, non-O139 Vibrio cholerae (NOVC) strains are an uncommon cause of gastroenteritis. However, they have been recently associated with severe extraintestinal infections in immunocompromised hosts. Among them, bacteremia in cirrhotic patients is noteworthy. We present the case of a 58-year-old woman with cirrhosis that developed septic shock, multiple organ failure and died four days after admission. Blood cultures yielded Gram-negative rods identified as Vibrio cholerae. Further serogrouping by slide agglutination and a negative PCR for ctxA gen confirmed the strain to be NOVC. Antimicrobial susceptibility testing showed sensitivity to ampicillin, chloramphenicol, tetracycline and ciprofloxacin; and resistance to trimethoprim-sulfamethoxazole. To the best of our knowledge, this is first report in Peru, described in the Hospital Nacional Dos de Mayo, of NOVC bacteremia.


Subject(s)
Female , Humans , Middle Aged , Cholera/microbiology , Bacteremia/microbiology , Vibrio cholerae O139/isolation & purification , Vibrio cholerae non-O1/isolation & purification , Liver Cirrhosis/complications , Peru/epidemiology , Shock, Septic/etiology , Serotyping , Peptic Ulcer Hemorrhage/complications , Cholera/complications , Cholera/epidemiology , Bacteremia/epidemiology , Fatal Outcome , Drug Resistance, Multiple, Bacterial , Disease Susceptibility , Multiple Organ Failure/etiology
3.
Univ. med ; 59(1)20180000. ilus, tab
Article in Spanish | LILACS, COLNAL | ID: biblio-994839

ABSTRACT

La paracentesis es un procedimiento con fines diagnósticos en pacientes con ascitis de novo. Permite detectar la presencia de infección en pacientes con ascitis de larga data. En casos de ascitis a tensión, ascitis refractaria y disnea por restricción es ampliamente utilizada como terapia. El conocimiento general de este procedimiento y de los pormenores de su técnica son de gran importancia, ya que su utilización viene en aumento en los servicios de urgencias, hospitalización general e incluso, en la unidad de cuidados intensivos. Teniendo en cuenta lo anterior, se hace hincapié en la correcta utilización de esta técnica por parte del personal médico. Métodos: Se realizó una búsqueda de la literatura científica en las bases de datos Pubmed y SciELO de artículos con una estrategia definida, limitada a idiomas español e inglés, utilizando una combinación de términos libres y MeSH que incluyeron paracentesis, ascitis, cirrosis hepática y malignidad.


Paracentesis is a diagnostic procedure used in patients with new-onset ascites. It can detect the presence of infection in patients with longstanding ascites. In cases of tense ascites, refractory ascites or restriction dyspnea it is widely used for therapeutical purposes. General knowledge of this procedure is of great importance as well as a detailed understanding of the technique, because its use is increasing in the emergency department, general hospitalization, and even in the intensive care unit. Taking all this into consideration we aim to emphasize on the proper use of this technique by the medical staff.


Subject(s)
Paracentesis/statistics & numerical data
4.
Ann Hepatol ; 16(5): 788-796, 2017.
Article in English | MEDLINE | ID: mdl-28809735

ABSTRACT

INTRODUCTION AND AIMS: Adrenal insufficiency (AI) is common in patients with cirrhosis. We aimed to assess the presence of AI in stable patients with cirrhosis using the gold-standard insulin tolerance test (ITT) and to propose an algorithm for screening AI in these patients. MATERIAL AND METHODS: We studied 40 stable patients with cirrhosis. We determined the basal total (BTC) and peak cortisol (PTC) levels. Using the ITT, we defined AI as a serum PTC < 18 µg/dL at 30 min after insulin-induced hypoglycemia. We assessed the diagnostic accuracy of BTC in different stages of liver disease to discriminate between those with NAF and AI. RESULTS: Of the 40 patients, 24 (60%) presented with AI. Child-Pugh and MELD scores differed between the NAF and AI groups (Child-Pugh: NAF 7.2 ± 1.7 vs. AI 8.8 ± 2.4, p = 0.024 and MELD: NAF 9.9 ± 2.5 vs. AI 14.9 ± 6.3, p = 0.001). The BTC level was lower in patients with AI than in those with NAF (7.2 ± 2.4 vs. 12.5 ± 5.2, p < 0.001). A BTC value ≤ 10.0 µg/dL had a 96% sensitivity (negative predictive value: 90%) for identifying AI. This cutoff value (BTC ≤ 10.0 µg/dL) provided 100% specificity (positive predictive value: 100%) in patients with advanced liver disease (Child-Pugh ≥ 9 or MELD ≥ 12). CONCLUSION: An algorithm including the use of BTC and the severity of liver disease may be a useful and simple method for assessing adrenal function in stable patients with cirrhosis.


Subject(s)
Adrenal Cortex Function Tests , Adrenal Glands/physiopathology , Adrenal Insufficiency/diagnosis , Algorithms , Decision Support Techniques , Liver Cirrhosis/diagnosis , Administration, Intravenous , Adrenal Glands/metabolism , Adrenal Insufficiency/blood , Adrenal Insufficiency/epidemiology , Adrenal Insufficiency/physiopathology , Adult , Area Under Curve , Biomarkers/blood , Blood Glucose/metabolism , Critical Pathways , Cross-Sectional Studies , Female , Humans , Hydrocortisone/blood , Hypoglycemia/blood , Hypoglycemia/physiopathology , Insulin/administration & dosage , Liver Cirrhosis/blood , Liver Cirrhosis/epidemiology , Liver Cirrhosis/physiopathology , Male , Mexico/epidemiology , Middle Aged , Predictive Value of Tests , Prevalence , ROC Curve , Reproducibility of Results
5.
Journal of Clinical Hepatology ; (12): 2118-2120, 2016.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-778367

ABSTRACT

ObjectiveTo investigate the value of serum cancer antigen 12-5 (CA12-5) level in the diagnosis of peritoneal effusion in patients with liver cirrhosis. MethodsA total of 142 patients with liver cirrhosis who were hospitalized at Beijing Tiantan hospital from January 2011 to December 2015 and met the inclusion criteria were enrolled. According to the presence or absence of peritoneal effusion, the patients were divided into peritoneal effusion group (81 patients) and non-peritoneal effusion group (61 patients). The two-independent-samples t test was used for comparison of normally distributed continuous data between groups, the Mann-Whitney U non-parametric test was used for comparison of non-normally distributed continuous data between groups, and the chi-square test was used for comparison of categorical data between groups. A Spearman correlation analysis was used to investigate the correlation between serum CA12-5 level and the degree of peritoneal effusion. ResultsThe peritoneal effusion group had a significantly higher serum CA12-5 level than the non-peritoneal effusion group [290.00 (50.82-618.4) U/ml vs 15.39 (9.77-23.04) U/ml, Z=-8.537, P<0.01]. Serum CA12-5 level was positively correlated with the degree of peritoneal effusion (r=0.812, P<0.01) and had a high diagnostic value for peritoneal effusion (the area under the receiver operating characteristic curve was 0.92). Serum CA12-5 level had a sensitivity of 81.5% and a specificity of 88.5% at a cut-off value of 35.00 U/ml. ConclusionSerum CA12-5 level can help with the diagnosis and monitoring of peritoneal effusion.

6.
Gastroenterol Hepatol ; 38(2): 97-107, 2015 Feb.
Article in Spanish | MEDLINE | ID: mdl-25499848

ABSTRACT

Portal hypertensive gastropathy (GHP) is a complication of portal hypertension usually associated with liver cirrhosis. The pathogenesis is unclear but the presence of portal hypertension is an essential factor for its development. GHP may be asymptomatic or present as gastrointestinal bleeding or iron deficiency anemia. Endoscopic lesions vary from a mosaic pattern to diffuse red spots; the most common location is the fundus. Treatment is indicated when there is acute or chronic bleeding, as secondary prophylaxis. There is insufficient evidence to recommend primary prophylaxis in patients who have never bled. Drugs that decrease portal pressure, such as non-cardioselective beta-blockers, and/or endoscopic ablative treatments, such as argon-beam coagulation, may be used. The role of transarterial intrahepatic portosystemic shunt) or bypass surgery has been insufficiently analyzed. Antral vascular ectasia (EVA) is a rare entity in liver cirrhosis, whose pathophysiology is still unknown. Clinical presentation is similar to that of GHP and endoscopy usually shows red spots in the antrum. Biopsy is often required to differentiate EVA from GHP. There is no effective medical therapy, so endoscopic ablative therapy and, in severe cases, antrectomy are recommended.


Subject(s)
Gastric Antral Vascular Ectasia/etiology , Gastrointestinal Hemorrhage/etiology , Hypertension, Portal/complications , Liver Cirrhosis/complications , Anemia, Iron-Deficiency/etiology , Gastrectomy/methods , Gastric Antral Vascular Ectasia/physiopathology , Gastric Antral Vascular Ectasia/surgery , Gastrointestinal Hemorrhage/physiopathology , Gastrointestinal Hemorrhage/surgery , Gastroscopy , Humans , Portasystemic Shunt, Surgical
7.
Rev. medica electron ; 33(5): 566-573, sep.-oct. 2011.
Article in Spanish | LILACS | ID: lil-615863

ABSTRACT

La hepatitis C es considerada un grave problema de salud al representar la primera causa de enfermedad hepática crónica, trasplante hepático y hepatocarcinoma. Se realizó un estudio descriptivo, prospectivo y longitudinal, con el objetivo de caracterizar desde el punto de vista clínico, epidemiológico y anatomopatológico, a los 38 pacientes diagnosticados con hepatitis crónica por virus C en el Servicio de Gastroenterología del Hospital Provincial Clínico Quirúrgico José R López Tabrane, en el período comprendido entre enero de 2008 y enero de 2010. Los resultados fueron expresados en tablas o gráficos y procesados según métodos estadísticos correspondientes. Los antecedentes epidemiológicos más significativos fueron las donaciones de sangre e intervenciones quirúrgicas previas. La forma de presentación más frecuente fue la asintomática. Al momento del diagnóstico la mayoría de los pacientes se encontraban en estadío de hepatitis crónica; entre los diagnosticados con cirrosis predominaron los incluidos en el estadío B, según la clasificación de Child-Pugh. La respuesta virológica y bioquímica al final del tratamiento con Heberviron resultó baja, al igual que la evaluada seis meses después de concluido el mismo.


The hepatitis C is considered a serious health problem being the first cause of the chronic hepatic disease, liver transplantation and hepatocellular carcinoma. We carried out a descriptive, prospective, longitudinal study, with the objective of characterizing, from the clinical, epidemiologic and anatomopathological point of view, the 38 patients diagnosed with virus C chronic hepatitis at the Service of Gastroenterology of the Provincial Clinical Surgical Hospital José R López Tabrane, in the period from January 2008 to January 2010. The results were expressed in tables and graphics and processed according to the correspondent statistic methods. The most significant epidemiologic antecedents were blood donations and previous surgical interventions. The most frequent presentation form was the asymptomatic ones. At the moment of the diagnosis, most of the patients were in the stage of chronic hepatitis; among those diagnosed with cirrhosis there was a predominance of those included in the stage B, according to the Child-Pugh classification. The virological and biochemical answer at the end of the Heberviron treatment was low, as it also was six months after finishing the treatment.


Subject(s)
Humans , Male , Adult , Female , Middle Aged , Hepatitis C/epidemiology , Hepatitis C/pathology , Epidemiology, Descriptive , Longitudinal Studies , Prospective Studies
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