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1.
Scand J Gastroenterol ; 58(7): 798-804, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36620920

RESUMEN

BACKGROUND: The SARS-CoV-2 pandemic conditioned the optimal timing of some endoscopic procedures. ESGE guidelines recommend replacement or removal of the plastic biliary stents within 3-6 months to reduce the risk of complications. Our aim was to analyse the outcomes of patients who had delayed plastic biliary stent removal following endoscopic retrograde cholangiopancreatography (ERCP) in the pandemic era. METHODS: Retrospective study including consecutive ERCPs with plastic biliary stent placement between January 2019 and December 2021. Delayed removal was defined as presence of biliary stent >6 months after ERCP. The evaluated outcomes were stent migration, stent dysfunction, obstructive jaundice, cholangitis, acute pancreatitis, hospitalization, and biliary pathology-related mortality. RESULTS: One-hundred and twenty ERCPs were included, 56.7% male patients, with a mean age of 69.4 ± 15.7 years. Indications for plastic biliary stent insertion were choledocholithiasis (72.5%), benign biliary stricture (20.0%), and post-cholecystectomy fistula (7.5%). Delayed stent removal occurred in 32.5% of the cases. The median time to stent removal was 3.5 ± 1.3 months for early removal and 8.6 ± 3.1 months for delayed removal. Patients who had delayed stent removal did not have a significantly higher frequency of stent migration (20.5 vs 11.1%, p = 0.17), stent dysfunction (17.9 vs 13.6%, p = 0.53), hospitalization (17.9 vs 14.8%, p = 0.66), obstructive jaundice (2.6 vs 0.0%, p = 0.33), cholangitis (10.3 vs 13.6%, p = 0.77), acute pancreatitis (0.0 vs 1.2%, p = 1.0), or biliary pathology-related mortality (2.6 vs 1.2%, p = 0.55). CONCLUSIONS: Delayed plastic biliary stent removal does not seem to have a negative impact on patients' outcomes. In the current pandemic situation, while scheduled endoscopic procedures may have to be postponed, elective removal of plastic biliary stents can be safely deferred.


Asunto(s)
COVID-19 , Colangitis , Colestasis , Ictericia Obstructiva , Pancreatitis , Humanos , Masculino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Femenino , Ictericia Obstructiva/etiología , Estudios Retrospectivos , Plásticos , Enfermedad Aguda , Pandemias , Pancreatitis/etiología , Pancreatitis/complicaciones , COVID-19/complicaciones , SARS-CoV-2 , Colangiopancreatografia Retrógrada Endoscópica/efectos adversos , Colangiopancreatografia Retrógrada Endoscópica/métodos , Colestasis/etiología , Colangitis/epidemiología , Colangitis/etiología , Stents/efectos adversos , Resultado del Tratamiento
2.
Dig Dis ; 41(2): 335-342, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-35508118

RESUMEN

BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) is a useful option for long-term enteral nutrition. Low-profile gastrostomy tubes ("buttons") may afterward be placed in the stomach through the abdominal wall following maturation of the preexisting ostomy. Regular verification is essential since inadequate sizing is associated with accidental exteriorization or food leakage. We aimed to evaluate gastrostomy buttons diameter or length variations on the first year after their placement and possible factors associated with these variations. METHODS: We analyzed consecutive PEGs between 2016 and 2018. A minimum follow-up of 12 after gastrostomy button placement was required. Diameter or length variations were assessed in a specialized PEG appointment during the follow-up period. RESULTS: Final sample included 94 patients, from which 65 (69.1%) were women, and 29 (30.9%) were men, with a mean age of 76.9 ± 13.3 years. Measurements variations occurred in 44 (46.8%) patients. Diameter variation was significantly more frequent in patients living in a nursing home (OR = 5.43; 95% CI = 1.32-22.27; p = 0.019), patients with previous PEG tube dislodgement (OR = 3.84; 95% CI = 1.21-12.20; p = 0.023), and male patients (OR = 3.50; 95% CI = 1.06-11.49, p = 0.039). Length variation occurred more frequently in patients with a weight change during the follow-up period greater than 5 kg (OR = 3.71; 95% CI = 1.14-12.05; p = 0.029). CONCLUSIONS: A significant proportion of patients with gastrostomy buttons required a change in their measurements, especially if male, living in nursing homes, having significant weight changes, or accidental tube exteriorization. This emphasizes the importance of having a specialized PEG appointment to regularly assure the best fitted button for each patient and ultimately guarantee an adequate nutritional intake.


Asunto(s)
Nutrición Enteral , Gastrostomía , Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Intubación Gastrointestinal , Cateterismo , Estudios Retrospectivos
3.
Mol Genet Metab ; 132(3): 204-209, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33558081

RESUMEN

OBJECTIVES: A recent ultrasonographic score (Ultrasonographic fatty liver indicator (US-FLI)) allows to grade steatosis severity on ultrasound (US).We aimed to evaluate the agreement of US-FLI with the controlled attenuation parameter (CAP) in patients with non-alcoholic fatty liver disease (NAFLD). METHODS: Initially, inter-observer agreement for the score was assessed between 3 physicians using a sample of 31 patients.Later, 96 patients with NAFLD were included and several anthropometric/clinical/analytical parameters were assessed and US and transient elastography was performed. RESULTS: Physicians showed an excellent absolute agreement regarding the total score, with an average Interclass Correlation Coefficient of 0.972(95% CI 0.949-0.986). Comparing US-FLI with CAP, considering the previously defined cut-off for steatosis >S1(268dB/m) and > S2(280dB/m), US-FLI had a good discriminative capacity for both grades, with areas under the curve (AUC) of 0.88(p < 0.001) and 0.90(p < 0.001), respectively.Also, US-FLI ≤ 3 points had a negative predictive value of 100% for steatosis >S2 and US-FLI ≥6 points had a positive predictive value (PPV) of 94.0% for steatosis >S2. When comparing the clinical score Fatty Liver Index (FLI) for the same CAP cut-offs, it showed a weak discriminative capacity for both grades, with AUC of 0.65(p = 0.030) and 0.66(p = 0.017). AUC for US-FLI and FLI were significantly different for both cut-offs (p < 0.001). CONCLUSION: US-FLI has an excellent reproducibility and a good discriminative capacity for the different steatosis grades.Scores ≤3points exclude significant steatosis and scores ≥6 points have a PPV of 94,0% for steatosis >S2.US-FLI was significantly superior to the clinical score FLI in the discrimination between steatosis grades.


Asunto(s)
Hígado Graso/diagnóstico , Hígado/patología , Enfermedad del Hígado Graso no Alcohólico/diagnóstico , Ultrasonografía , Biopsia , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/diagnóstico por imagen , Diabetes Mellitus/patología , Dislipidemias/complicaciones , Dislipidemias/diagnóstico , Dislipidemias/diagnóstico por imagen , Dislipidemias/patología , Diagnóstico por Imagen de Elasticidad , Hígado Graso/clasificación , Hígado Graso/diagnóstico por imagen , Hígado Graso/patología , Femenino , Humanos , Hipertensión/complicaciones , Hipertensión/diagnóstico , Hipertensión/diagnóstico por imagen , Hipertensión/patología , Hígado/ultraestructura , Síndrome Metabólico/complicaciones , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/diagnóstico por imagen , Síndrome Metabólico/patología , Persona de Mediana Edad , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/diagnóstico por imagen , Enfermedad del Hígado Graso no Alcohólico/patología , Obesidad/complicaciones , Obesidad/diagnóstico , Obesidad/diagnóstico por imagen , Obesidad/patología , Índice de Severidad de la Enfermedad
4.
Dig Dis ; 39(6): 653-662, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33508843

RESUMEN

INTRODUCTION: Increasing evidence suggests an association between metabolic-associated fatty liver disease (MAFLD) and CKD. Timely prediction of early kidney dysfunction (EKD) is thus essential in this population although a screening method is not stablished. We aimed to evaluate the role of transient elastography (TE) in predicting EKD in patients with MAFLD. MATERIALS AND METHODS: A prospective cohort study that included patients with MAFLD scheduled for evaluation was performed between May 2019 and January 2020. Demographic, clinical, and laboratory data and TE parameters were prospectively obtained. EKD was defined as microalbuminuria (urinary albumin-to-Cr ratio 30-300 mg/g) and estimated glomerular filtration rate ≥60 mL/min/1.73 m2. Significant liver fibrosis was defined as liver stiffness measurement (LSM) ≥8.2 kPa. RESULTS: Of the included 45 patients with MALFD, 53.3% were of female gender with mean age of 53.5 ± 10.9 years. EKD was found in 17.8% of patients. MAFLD patients with EKD were significantly more obese (BMI ≥30) (75.0 vs. 32.4%, p = 0.045) and had significantly higher LSM (8.5 ± 4.1 vs. 5.8 ± 2.2 kPa, p = 0.01). After adjustment of potential confounders for EKD, the presence of liver fibrosis remained a significant predictor of EKD, being associated with a 14.3-fold increased risk of EKD (p = 0.04). The optimal cutoff value of LSM to predict EKD was 6.1 kPa (sensitivity: 85.7%; specificity: 67.6%). CONCLUSION: Significant liver fibrosis is associated with a significant increased risk of EKD in patients with MAFLD, regardless of other comorbidities. Higher levels of LSM, particularly >6.1 kPa, alert for timely identification of EKD and associated comorbidities, as well as their control, in order to prevent the development of CKD in the long term.


Asunto(s)
Diagnóstico por Imagen de Elasticidad , Adulto , Femenino , Humanos , Riñón , Hígado/patología , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnóstico por imagen , Cirrosis Hepática/patología , Tamizaje Masivo , Persona de Mediana Edad , Estudios Prospectivos
5.
Scand J Gastroenterol ; 55(9): 1079-1086, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32715829

RESUMEN

BACKGROUND: The liver-renal-risk (LIRER) score was developed to predict adverse outcomes in cirrhotic patients with Model for End-stage Liver Disease (MELD)<18, helping the allocation to liver transplantation in this population. We aimed to assess its prognostic performance compared to other prognostic scores in first admission for hepatic cirrhosis decompensation. METHODS: Retrospective study that included patients admitted for initial decompensation of cirrhosis between January 2010 and February 2017. The LIRER, Child-Pugh (CP), MELD and MELD-sodium (MELD-Na) scores were calculated at admission. RESULTS: One-hundred and forty-six patients were included, 65.1% with MELD < 18. LIRER was a predictor of in-stay (AUC 0.70; p = .04), first-year (0.70; p < .001), two-years (0.72; p < .001) and overall mortality (0.70; p < .001), being the only score with an acceptable discriminating ability (AUC ≥ 0.70). Stratifying patients in MELD < 18 and ≥18, LIRER was found to be an independent predictor of first-year, two-years and overall-mortality only in MELD < 18 patients (AUC 0.67; 0.70; 0.72), being superior to all other scores predicting first-year mortality and the only with an AUC with a reasonable discriminating ability for predicting two-years and overall-mortality. The LIRER was also a predictor of 30-days hospital readmission (AUC 0.75; p < .001), independently of MELD, with patients with LIRER > 15.9 having a significantly higher probability to be readmitted at 30 days. CONCLUSIONS: The LIRER score is a predictor of first-year, two-years and overall-mortality in decompensated cirrhosis, particularly in patients with MELD < 18. LIRER is therefore an important tool to predict medium-long-term outcomes in this population. Besides, it allows predicting the 30-days readmission probability in overall patients, independently of MELD.


Asunto(s)
Enfermedad Hepática en Estado Terminal , Humanos , Cirrosis Hepática/complicaciones , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Índice de Severidad de la Enfermedad
6.
Scand J Gastroenterol ; 55(4): 485-491, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32202441

RESUMEN

Introduction: Percutaneous Endoscopic Gastrostomy (PEG) is accepted as an efficient method to provide long-term enteral nutrition. PEG accidental dislodgement (device exteriorization confirmed by expert evaluation) rate is high and can lead to major morbidity.Objective: To identify independent risk factors for PEG accidental dislodgement.Methods: Retrospective, single-center study, including consecutive patients submitted to PEG procedure, for 38 consecutive months. Every patient had 12 months minimum follow-up after PEG placement. Univariate analysis selected variables with at least marginal association (p < .15) with the outcome variable, PEG dislodgement, which were included in a logistic regression multivariate model. Discriminative power was assessed using area under curve (AUC) of the receiver operating curve (ROC).Results: We included 164 patients, 67.7% (111) were female, mean age was 81 years. We report 59 (36%) PEG dislodgements, of which 13 (7.9%) corresponded to early dislodgements. The variables with marginal association were hypoalbuminemia (p = .095); living at home (p = .049); living in a nursing home (p = .074); cerebrovascular disease (CVD) (p = .028); weight change of more than 5 kg, either increase or decrease (p = .001); psychomotor agitation (p < .001); distance inner bumper-abdominal wall (p = .034) and irregular appointment follow-up (p = .149). At logistic multivariate regression, the significant variables after model adjustment were CVD OR 4.8 (CI 95% 2.0-11.8), weight change OR 4.7 (CI 95%1.6-13.9) and psychomotor agitation OR 18.5 (CI 95% 5.2-65.6), with excellent discriminative power (AUC ROC 0.797 [CI95% 0.719-0.875]).Conclusion: PEG is a common procedure and accidental dislodgement is a frequent complication. CVD, psychomotor agitation and weight change >5 kg increase the risk of this complication and should be seriously considered when establishing patients' individual care requirements.


Asunto(s)
Migración de Cuerpo Extraño/etiología , Gastrostomía/efectos adversos , Gastrostomía/mortalidad , Anciano , Anciano de 80 o más Años , Trastornos Cerebrovasculares/complicaciones , Nutrición Enteral/efectos adversos , Nutrición Enteral/instrumentación , Nutrición Enteral/métodos , Nutrición Enteral/mortalidad , Falla de Equipo , Femenino , Migración de Cuerpo Extraño/epidemiología , Gastroscopía/efectos adversos , Gastroscopía/métodos , Gastroscopía/mortalidad , Gastrostomía/instrumentación , Gastrostomía/métodos , Humanos , Modelos Logísticos , Masculino , Análisis Multivariante , Agitación Psicomotora/complicaciones , Curva ROC , Estudios Retrospectivos , Factores de Riesgo , Aumento de Peso/fisiología , Pérdida de Peso/fisiología
7.
Scand J Gastroenterol ; 54(8): 1022-1026, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31322445

RESUMEN

Background: Obesity is one of the main factors of transient elastography (TE) failure, considering body mass index (BMI) ≥28 kg/m2 as a limiting factor. The XL probe was designed to overcome this limitation. Aim: To compare the feasibility of the M and XL probes in patients with BMI ≥ 28 kg/m2, to evaluate differences in mean values of controlled attenuation parameter (CAP) and liver stiffness measurement (LSM) between the two probes and find predictive factors of TE failure. Material and methods: Prospective study, including all patients with BMI ≥ 28 kg/m2 consecutively admitted for TE. Results: Included 161 patients. Measurements with M probe were reliable in 69.6% of the patients, with 68.2% of valid measurements in obese population and 58.9% in patients with skin-capsule distance (SCD) >25 mm. In 40 patients (81.6%) with an invalid M probe measurement, a reliable result was obtained with XL probe. We found that SCD >25 mm was the only predictor of M probe failure (OR: 4.9, CI: 1.64-14.63, p = .004). In those patients in which TE was possible with both probes (n = 112), mean CAP was 304 ± 49 dB/m2 with M probe and 301 ± 50 dB/m2 with XL probe (p = .59). Regarding liver stiffness, a mean value of 7.58 ± 3.47 kpas was obtained with the M probe and 6.21 ± 3.44 kpas with the XL probe (p < .001). Conclusion: There is a reliable applicability of the M probe in a high number (68.2%) of patients with a BMI ≥30 kg/m2. A SCD >25 mm was the only predictive factor of M probe failure. Mean values of LSM with XL probe were lower than those obtained with M probe.


Asunto(s)
Diagnóstico por Imagen de Elasticidad/instrumentación , Cirrosis Hepática/diagnóstico por imagen , Sobrepeso/diagnóstico por imagen , Transductores , Adulto , Índice de Masa Corporal , Diseño de Equipo , Femenino , Humanos , Hígado/diagnóstico por imagen , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Enfermedad del Hígado Graso no Alcohólico/diagnóstico por imagen , Obesidad/diagnóstico por imagen , Estudios Prospectivos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
9.
J Obstet Gynaecol ; 37(2): 137-140, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27960565

RESUMEN

Polymorphic Eruption of Pregnancy (PEP) is one of the most common dermatosis related to pregnancy. PEP usually consists of pruritic papules and plaques appearing in the third trimester of pregnancy. It is more common in primigravidae and twin pregnancies. Although not associated with poorer foetal or maternal outcomes, it may be hard for pregnant women to endure. The diagnosis is easy if suspected, though sometimes it may be hard to distinguish from other dermatosis such as atopic eczema of pregnancy, pemphigoid gestationis or dermatitis. Topical treatment with emollients and low-medium potency steroids is usually effective but systemic steroid treatment may be required. PEP is self-limiting and resolves days or weeks after the first appearance or after delivery. In this article, the authors aim to review the literature published from 2000 onwards regarding the subject, either in English or Portuguese.


Asunto(s)
Corticoesteroides/uso terapéutico , Fármacos Dermatológicos/administración & dosificación , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/tratamiento farmacológico , Prurito/diagnóstico , Prurito/tratamiento farmacológico , Administración Tópica , Diagnóstico Diferencial , Femenino , Humanos , Embarazo , Tercer Trimestre del Embarazo , Factores de Riesgo
18.
GE Port J Gastroenterol ; 30(6): 422-429, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38476150

RESUMEN

Background: Metabolic-associated fatty liver disease (MAFLD) is an increasingly prevalent cause of chronic liver disease. In 2020, the FibroScan-AST (FAST) score was internationally validated as a new tool able to identify patients with steatohepatitis who benefit the most from further therapies, based on liver transient elastography (LTE) findings and serum levels of aspartate aminotransferase (AST). We aimed to identify, in MAFLD patients, which metabolic features may predict a higher FAST score. Methods: Retrospective study of consecutive patients with MAFLD submitted to LTE for two consecutive years. Patients without an AST sample collected within 6 months of the LTE were excluded. FAST score was calculated, stratifying the patient's risk as low (<0.35), medium (0.35-0.67), or high (>0.67). Results: The sample included 117 patients, 53.0% of the female gender, with a mean age of 53 years. On multivariate analysis, patients with type 2 diabetes (T2DM) (p < 0.001), dyslipidemia (p = 0.046), and smoking habits (p = 0.037) presented with significantly higher FAST score values. Furthermore, diabetic patients did not only present significantly higher FAST scores but were also more frequently assigned to the high-risk group according to FAST score criteria (OR = 9.2; 95% CI = 1.8-45.5; p = 0.007). Conclusions: Calculating the FAST score, patients with T2DM presented a significantly higher risk of having significant fibrosis and steatohepatitis. Physicians may rely on this validated instrument to more easily identify which patients with T2DM and MAFLD benefit the most from a specialized follow-up.


Introdução: O figado gordo associado a disfuncao metabolica (FGADM) e uma causa crescente de doenca hepatica cronica. Em 2020, o score Fibroscan-AST (FAST) foi validado internacionalmente como uma nova ferramenta capaz de identificar pacientes com esteatohepatite que beneficiam de terapeuticas adicionais, baseado nos achados da elastografia hepatica transitoria (EHT) e niveis sericos de aspartato aminotransferase (AST). Os autores procuraram identificar, em pacientes com FGADM, que fatores metabolicos predizem um score-FAST maior. Métodos: Estudo retrospetivo de pacientes com FGADM submetidos a EHT durante 2 anos consecutivos. Pacientes sem uma amostra de AST colhida nos 6 meses previos a EHT foram excluidos. O score-FAST foi calculado, estratificando o risco do paciente como baixo (<0,35), moderado (0,35-0,67) ou alto (>0,67). Resultados: A amostra incluiu 117 pacientes, 53% do sexo feminino, com uma idade media de 53 anos. Em analise multivariada, pacientes com Diabetes Mellitus tipo 2 (DMT2) (p < 0,001), dislipidemia (p = 0,046) e habitos tabagicos (p = 0,037) apresentaram valores de score-FAST significativamente maiores. Alem disso, os pacientes diabeticos apresentaram nao so valores de score-FAST significativamente maiores, como tambem foram mais frequente classificados como pertencendo ao grupo de alto risco, de acordo com os criterios deste score (OR = 9,2; 95%IC = 1,8­45,5; p = 0,007). Conclusões: Calculando o score-FAST, pacientes com FGADM e DMT2 apresentaram um risco significativamente maior. Esta ferramenta validada podera ser utilizada para selecionar os pacientes com DMT2 e FGADM que poderao beneficiar de seguimento especializado.

19.
GE Port J Gastroenterol ; 29(2): 96-105, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35497665

RESUMEN

Introduction: Although upper gastrointestinal bleeding (UGIB) management has improved substantially in the last decades, there is still much controversy regarding the optimal timing for performance of endoscopy. Recent guidelines suggest performing an early endoscopy within 24 h of nonvariceal UGIB (NVUGIB) presentation, although its impact on patients with different bleeding risks remains unclear. Aim: To evaluate the impact of performing endoscopy within 24 h on NVUGIB outcomes and to compare it in patients with lower-risk vs. higher-risk bleeding. Methods: This is a retrospective cohort study including consecutive patients undergoing upper endoscopy for suspected NVUGIB over 4 years. Demographic, clinical, biochemical, endoscopic, and outcome data were collected. Lower-risk bleeding was defined as a Glasgow-Blatchford score (GBS) <12 and higher-risk bleeding was defined as a GBS ≥12. Results: A total of 298 patients with suspected NVUGIB were included, 55% of whom had higher-risk bleeding. Endoscopy was performed within 24 h in 62.1% of the patients. In lower-risk bleeding patients, performance of endoscopy within 24 h was associated with a higher need for endoscopic treatment (OR = 2.6; 95% CI 1.2-5.7; p = 0.004), a lower 30-day mortality (OR = 0.41; 95% CI 0.27-0.63; p = 0.03), and a lower need for transfusion (OR = 0.58; 95% CI 0.36-0.92; p = 0.02). In higher-risk bleeding patients, there were no statistically significant differences in NVUGIB outcomes in performing endoscopy within 24 h. Conclusion: Endoscopy within 24 h of presentation was associated with a lower need for transfusion, a higher need for endoscopic treatment, and a lower 30-day mortality in lower-risk NVUGIB patients. Thus, performing endoscopy within the first 24 h of presentation can have a positive impact on NVUGIB outcomes even in lower-risk bleeding.


Introdução: Embora a abordagem da hemorragia digestiva alta não varicosa [HDANV] tenha melhorado substancialmente nas últimas décadas, há ainda muita controvérsia relativamente ao timing ideal de realização da endoscopia. Apesar das guidelines recentes sugerirem a realização de endoscopia precoce nas primeiras 24 horas de apresentação, o seu impacto em pacientes com estratificações de risco distintas permanece por esclarecer. Objetivo: Avaliar o impacto da realização de endoscopia precoce nos diferentes outcomes de HDA não varicosa em doentes de baixo e alto risco. Métodos: Estudo de coorte retrospetivo incluindo pacientes submetidos consecutivamente a endoscopia por suspeita de HDANV, durante 4 anos. Foram obtidos dados demográficos, clínicos, bioquímicos, endoscópicos e outcomes adversos. Baixo risco foi definido como score Glasgow-Blatchford >12 e alto risco como ≥12. Resultados: Foram incluídos 298 pacientes, 55% sendo de alto risco. A endoscopia foi efetuada nas primeiras 24 horas em 62.1% dos pacientes. Em doentes de baixo risco, realizar endoscopia nas primeiras 24 horas associou-se a maior necessidade de terapêutica endoscópica [OR 2.6, IC 1.2­5.7; p = 0.004], menor mortalidade a 30 dias [OR 0.41, IC 0.27­0.63; p = 0.03] e menor necessidade de transfusão [OR 0.58, IC 0.36­0.92; p = 0.02]. Em doentes de alto risco não houve diferenças estatisticamente significativas nos outcomes pelo facto de efetuar endoscopia precoce. Conclusão: Realizar endoscopia nas primeiras 24 horas de apresentação de HDANV foi associado a menor necessidade de transfusão, maior necessidade de terapêutica endoscópica e menor mortalidade a 30 dias em pacientes de baixo risco. Assim, efetuar endoscopia precoce pode ter um impacto positivo nos outcomes da HDANV, mesmo nos doentes que à partida têm menor risco de outcomes adversos.

20.
Genet Med ; 13(10): 895-902, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21785361

RESUMEN

PURPOSE: Although Lynch syndrome is characterized by marked genetic heterogeneity, some specific mutations are observed at high frequency in well-defined populations or ethnic groups due to founder effects. METHODS: Genomic breakpoint identification, haplotype analysis, and mutation age determination were performed in 14 unrelated patients and 95 family members presenting the same MLH1 exonic rearrangement, among a series of 84 Lynch syndrome families with germline mutations in MLH1, MSH2, or MSH6. RESULTS: All 14 probands harbored an identical deletion, comprising exons 17-19 of the MLH1 gene and exons 26-29 of the LRRFIP2 gene, corresponding to the MLH1 mutation c.1896 + 280_oLRRFIP2:c.1750-678del. This mutation represents 17% of all deleterious mismatch repair mutations in our series. Haplotype analysis showed a conserved region of approximately 1 Mb, and the mutation age was estimated to be 283 ± 78 years. All 14 families are originated from the Porto district countryside. CONCLUSION: We have identified a novel MLH1 exonic rearrangement that is a common founder mutation in Lynch syndrome families, indicating that screening for this rearrangement as a first step may be cost-effective during genetic testing of Lynch syndrome suspects of Portuguese ancestry, especially those originating from the Porto district.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Adenocarcinoma/genética , Proteínas Portadoras/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Proteínas Nucleares/genética , Adulto , Secuencia de Bases , Puntos de Rotura del Cromosoma , Exones , Efecto Fundador , Reordenamiento Génico , Haplotipos , Humanos , Repeticiones de Microsatélite , Homólogo 1 de la Proteína MutL , Linaje , Filogenia , Polimorfismo de Nucleótido Simple , Portugal
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