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2.
Obes Surg ; 34(1): 123-127, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37914885

ABSTRACT

AIMS: Our aim was to assess, in obese patients undergoing Roux-en Y gastric bypass surgery, the bismuth quadruple therapy (BQT) eradication rates at the first-line Helicobacter pylori (Hp) treatment as proposed by the Maastricht V/Florence consensus in areas with high clarithromycin (CLT) resistance rates-10 days proton pump inhibitor bid and three-in-one single capsule bismuth therapy containing bismuth, metronidazole, and tetracycline, marketed as Pylera four times a day. METHODS: This is a single-center prospective study over a 3-year period. Endoscopy and Hp assessment by histology was performed at baseline, and posttreatment Hp status was assessed by C13 urea breath test 4-6 weeks after the end of therapy. Data analysis was performed using the IBM® SPSS® Statistics 28.0 (IBM Corp. 2021, Armonk, NY) using mostly nonparametric comparisons (α = 0.05). RESULTS: The study cohort consisted of 598 adult obese Hp-positive patients [476, 78.6% female, age 43.2 (± 10.4) years] consecutively scheduled for Hp eradication therapy. Hp was eradicated in 500 patients [83.6.3% (95% CI: 80.4%-86.5%)], and the eradication was independent of gender, age, endoscopic diagnosis, and smoking status (p > 0.05). CONCLUSION: Ten days of BQT did achieve Maastricht V/Florence recommended first-line eradication rates (at least 80%) in obese Portuguese patients undergoing Roux-en Y gastric bypass, being by now the most reliable choice for Hp eradication.


Subject(s)
Gastric Bypass , Helicobacter Infections , Helicobacter pylori , Obesity, Morbid , Adult , Humans , Female , Male , Bismuth/therapeutic use , Bismuth/adverse effects , Helicobacter Infections/drug therapy , Prospective Studies , Obesity, Morbid/surgery , Drug Therapy, Combination , Anti-Bacterial Agents/therapeutic use , Clarithromycin/therapeutic use , Tetracycline/adverse effects , Metronidazole/therapeutic use , Obesity/complications , Obesity/drug therapy , Obesity/surgery , Proton Pump Inhibitors/therapeutic use , Amoxicillin/therapeutic use
3.
ACG Case Rep J ; 10(4): e01026, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37073376
4.
Gastroenterol Hepatol Bed Bench ; 16(1): 532-538, 2023.
Article in English | MEDLINE | ID: mdl-37070112

ABSTRACT

Collagenous sprue is a rare and unrecognized cause of diarrhea and weight loss, mainly affecting the duodenum and small bowel. The clinical picture often resembles that of coeliac sprue, the main differential diagnosis, albeit, being refractory to a gluten-free diet. The histological features are fundamentally characterized by the deposition of collagen beneath the basement membrane of gut mucosa. Treatment should be initiated as soon as the diagnosis is established, so as to prevent the progression of fibrosis. We will describe the case of a 76-year-old woman with collagenous sprue, her diagnostic workup, histopathological examination, and response to treatment.

6.
Obes Surg ; 28(3): 743-747, 2018 03.
Article in English | MEDLINE | ID: mdl-29076008

ABSTRACT

AIMS AND METHODS: Our aim was to assess, in obese patients undergoing Roux-en-Y gastric bypass (RYGB) surgery, the cumulative Helicobacter pylori (HP) eradication rates by adopting Maastricht IV guidelines in areas of high clarithromycin resistance rates (CLT)-14 days concomitant first-line therapy with proton-pump inhibitor (PPI) bid, CLT 500 mg bid, metronidazole (MTZ) 500 bid, and amoxicillin (AMX) 1000 mg bid and 14 days second-line therapy with PPI bid, AMX 1000 mg bid and levofloxacin (LVF) 500 mg od. Single-center prospective study was over 4 years. Endoscopy and HP assessment (by histology or C13 urea breath test) were performed at baseline and post-treatment HP status was assessed by C13 urea breath test 4-6 weeks after the end of therapy. RESULTS: Seven hundred seventy-seven consecutive HP-positive patients completed concomitant first-line treatment: 636 (81.9%) female, age 41.1 (± 10.2) years. HP was eradicated in 556 patients-71.56% (95% CI: 68.28-74.62%). In the remaining 221 patients, second-line LVF-based regimens eradicated HP in 121 patients-54.75% (95% CI: 48.16-61.18%). These results give 87.13% (95% CI: 84.58-89.31%) ITT and 89.43% (95% CI: 87.03-91.44%) PP cumulative eradication rates. Eradication rates were not significantly different by gender, age, endoscopy findings, and smoking habits. CONCLUSIONS: By adopting Maastricht IV consensus quadruple concomitant first-line treatment and second-line LVF-based therapy, high cumulative HP eradication rates are achieved but still leaves around 10.6% of obese patients undergoing RYGB in need of the culture and susceptibility testing prior to third-line treatment.


Subject(s)
Helicobacter Infections/drug therapy , Helicobacter pylori/isolation & purification , Obesity, Morbid/surgery , Adolescent , Adult , Amoxicillin/therapeutic use , Anti-Bacterial Agents/therapeutic use , Clarithromycin/therapeutic use , Consensus , Drug Therapy, Combination , Female , Gastric Bypass , Helicobacter Infections/complications , Humans , Levofloxacin/therapeutic use , Male , Middle Aged , Obesity, Morbid/microbiology , Prospective Studies , Proton Pump Inhibitors/therapeutic use , Young Adult
7.
Obes Surg ; 26(6): 1163-6, 2016 06.
Article in English | MEDLINE | ID: mdl-26467690

ABSTRACT

AIMS AND METHODS: Our aim was to assess, in obese patients undergoing Roux-en Y gastric bypass surgery, the quadruple concomitant HP eradication rates at first line treatment as proposed by the Maastricht IV consensus in areas of high clarithromycin resistance rates-proton pump inhibitor bid, clarithromycin 500 mg bid, amoxicillin 1000 mg bid, and metronidazole 500 mg bid. This is a single center prospective study over a 3-year period. Endoscopy and HP assessment (by histology or C13 urea breath) were performed at baseline, and post treatment HP status was assessed by C13 urea breath test 4-6 weeks after the end of therapy. RESULTS: The study cohort consisted of 600 adult obese HP positive patients [19 % male/81 % female, age 40.7 (±10.4) years] consecutively scheduled for HP concomitant therapy. HP was eradicated in 416 patients [69.3 % (95% CI 65.5-72.9 %)] and the eradication was independent of gender, age, endoscopic diagnosis, and smoking status (p > 0.05). CONCLUSIONS: Two weeks quadruple concomitant therapy did not achieve Maastricht recommended first line acceptable HP eradication rates (at least 80 %) in obese Portuguese patients undergoing GB.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Helicobacter Infections/drug therapy , Obesity, Morbid/surgery , Adolescent , Adult , Amoxicillin/administration & dosage , Amoxicillin/therapeutic use , Anti-Bacterial Agents/administration & dosage , Clarithromycin/administration & dosage , Clarithromycin/therapeutic use , Cohort Studies , Drug Therapy, Combination , Female , Gastric Bypass , Helicobacter Infections/complications , Helicobacter Infections/microbiology , Helicobacter pylori/drug effects , Humans , Male , Metronidazole/administration & dosage , Metronidazole/therapeutic use , Middle Aged , Obesity, Morbid/complications , Portugal , Prospective Studies , Proton Pump Inhibitors/administration & dosage , Proton Pump Inhibitors/therapeutic use , Treatment Outcome , Young Adult
8.
Clin. biomed. res ; 34(2): 57-63, 2014. tab
Article in Portuguese | LILACS | ID: biblio-997750

ABSTRACT

RESUMO INTRODUÇÃO: A encefalopatia hepática mínima (EHM) tem sido associada a alterações na capacidade de condução de veículos, ao aparecimento da forma explícita de encefalopatia hepática e a um pior prognóstico. Contudo, o seu real impacto na qualidade de vida (QV) permanece controverso. Com o desenvolvimento das normas de aplicação e cotação da Pontuação Psicométrica da Encefalopatia Hepática (PPEH) para diagnóstico da EHM para a população portuguesa, este estudo tem como objetivo determinar o efeito desta perturbação neurocognitiva na QV dos pacientes. MÉTODOS: A amostra é composta por dois grupos: Grupo Controle (GC; n = 8) e Grupo Cirrose Hepática (GCH; n = 8). Dos oito pacientes pertencentes ao GCH, quatro revelaram presença de EHM, diagnosticada de acordo com os critérios da PPEH. A QV foi avaliada através do Medical Outcomes Study, Short Form-36 (SF-36). RESULTADOS: Em comparação com o GC, o GCH apresentou pontuações significativamente mais baixas em todos os domínios do SF-36, com exceção da sub-dimensão dor física. Quando se compara os pacientes com e sem EH não se observam diferenças significativas em nenhum dos domínios do SF-36. CONCLUSÕES: Os pacientes com cirrose hepática apresentam uma pior QV em relação aos indivíduos saudáveis; a EHM não afeta a QV. Estudos com maior número de pacientes são necessários para confirmação destes achados


INTRODUCTION: Minimal hepatic encephalopathy (MHE) has been associated with changes in the ability to drive, with the onset of the explicit form of hepatic encephalopathy and with a worse prognosis. However, the impact of MHE on quality of life (QoL) remains controversial. With the standardization of the Psychometric Hepatic Encephalopathy Score (PHES) for the diagnosis of MHE in the Portuguese population, this study aimed to determine the effect of this neurocognitive disorder on the patients' QoL. METHODS: The sample consisted of two groups: the control group (CG, n = 8) and the liver cirrhosis group (LCG, n = 8). Of the eight patients in the LCG, four presented with MHE, diagnosed according to PHES criteria. QoL was assessed using the Medical Outcomes Study, Short Form 36 (SF-36). RESULTS: Compared with the CG, the LCG had significantly lower scores in all domains of the SF-36, except for the physical pain subdomain. When patients with and without HE were compared, no significant differences were found in any of the SF-36 domains. CONCLUSIONS: Patients with liver cirrhosis have a worse QoL when compared with healthy controls; EHM does not affect QoL. Further studies with a higher number of patients are required to confirm these findings


Subject(s)
Humans , Male , Adult , Quality of Life/psychology , Hepatic Encephalopathy/psychology , Liver Cirrhosis/complications , Psychomotor Performance , Activities of Daily Living/psychology , Hepatic Encephalopathy/etiology , Neuropsychological Tests
9.
Obes Surg ; 23(2): 145-9, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23054570

ABSTRACT

BACKGROUND: Our aim was to assess, in obese patients undergoing Roux-en Y gastric bypass surgery, the cumulative Helicobacter pylori (HP) eradication rates in two consecutive time spans (2006-2008 and 2009-2010). METHODS: The study adopted a 14-day clarithromycin-based triple therapy in first-line treatment as proposed by the Maastricht III consensus-proton pump inhibitor bid, clarithromycin 500 mg bid and amoxicillin 1,000 mg bid-and a 14-day second-line levofloxacin-based empirical regimen-proton pump inhibitor bid, amoxicillin 1,000 mg bid and levofloxacin 500 mg od. RESULTS: In 2006-2008, 253 patients received first-line therapy. HP was eradicated in 200 patients and 14 patients withdrew (intention to treat (ITT) = 79.1 %; per protocol (PP) = 83.7 %). In the remaining 39 patients, HP was eradicated in 22 patients and 8 patients withdrew (ITT = 56.4 % and PP = 71.0 %). Thus, out of 253 patients, HP was eradicated in 222 patients, 22 patients withdrew and 9 remained positive. In 2009-2010, 437 patients received first-line therapy. HP was eradicated in 256 patients and 30 patients withdrew (ITT = 58.6 %; PP = 62.9 %). In the remaining 151 patients, HP was eradicated in 80 and 6 patients withdrew (ITT = 53.0 % and PP = 55.1 %). These results give cumulative eradication rates of 87.7 % ITT and 96.1 % PP (2006-2008) and of 76.9 % ITT and 83.8 % PP (2009-2010). CONCLUSIONS: Cumulative HP eradication rates have fallen during 2006-2010 due to the fall of first-line eradication therapy rate, which was around 20 %. Therefore, the first-line clarithromycin-based Maastricht III consensus eradication is no longer effective in bariatric patients indicating the need to test new regimens.


Subject(s)
Gastric Bypass/adverse effects , Helicobacter Infections/drug therapy , Helicobacter pylori/pathogenicity , Obesity, Morbid/drug therapy , Stomach Neoplasms/prevention & control , Surgical Wound Infection/drug therapy , Adult , Aged , Amoxicillin/administration & dosage , Anti-Bacterial Agents/administration & dosage , Clarithromycin/administration & dosage , Drug Resistance, Bacterial , Drug Therapy, Combination , Female , Gastric Bypass/statistics & numerical data , Helicobacter Infections/complications , Helicobacter Infections/epidemiology , Helicobacter pylori/drug effects , Humans , Levofloxacin , Male , Middle Aged , Obesity, Morbid/complications , Obesity, Morbid/epidemiology , Obesity, Morbid/surgery , Ofloxacin/administration & dosage , Portugal/epidemiology , Practice Guidelines as Topic , Proton Pump Inhibitors/administration & dosage , Risk Factors , Stomach Neoplasms/epidemiology , Stomach Neoplasms/etiology , Surgical Wound Infection/epidemiology , Surgical Wound Infection/etiology , Treatment Failure , Young Adult
10.
Eur J Gastroenterol Hepatol ; 25(2): 129-34, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23104203

ABSTRACT

Crohn's disease (CD) is a progressive disease that is subdivided into three phenotypes: inflammatory, stricturing and penetrating. At diagnosis, most CD patients have inflammatory disease. However, the natural history of CD is one of progression over time to structural complications of the gastrointestinal tract (strictures and fistulae) requiring hospitalizations and surgeries. There is now evidence that early treatment with immunosuppressants and biologics can halt the development of inflammatory damage/fibrosis because of their potential to induce complete mucosal healing. This change in the natural course of CD, mediated by mucosal healing, is associated with a reduction in the incidence of serious complications (those requiring hospitalization and surgeries). Nevertheless, the clinical course of CD varies considerably from one patient to another, and the exact point at which immunosuppressants and/or biologics should be used has not yet been established. Given the difficulty in predicting which individuals will progress to complications and the fact that these therapeutic agents are associated with certain risks (lymphomas and opportunistic infections), efforts are underway to identify the risk factors that will facilitate the classification of patients into high-risk and low-risk groups at the time of diagnosis and to tailor therapy accordingly. This paper is a review of the currently available evidence on the clinical risk factors predictive of CD complications and surgery.


Subject(s)
Crohn Disease/complications , Constriction, Pathologic , Crohn Disease/drug therapy , Crohn Disease/surgery , Disease Progression , Humans , Immunosuppressive Agents/therapeutic use , Intestinal Fistula/etiology , Intestinal Obstruction/etiology , Prognosis , Risk Factors
11.
Eur J Gastroenterol Hepatol ; 24(5): 551-7, 2012 May.
Article in English | MEDLINE | ID: mdl-22356784

ABSTRACT

INTRODUCTION: Oesophageal variceal bleeding (OVB) is a high mortality rate complication in patients with cirrhosis. The aim of this study was to assess the risk factors for in-hospital mortality (IHM) in cirrhotic patients with OVB. PATIENTS AND METHODS: The study cohort included 102 patients (average age, 55.4 ± 12.6 years, 71.6% men) consecutively admitted to our hospital with OVB. All the patients underwent upper endoscopy within 12 h and octeotride or terlipressin therapy was started at admission and continued for 5 days. To calculate Model for End-Stage Liver Disease (MELD) and Child-Turcotte-Pugh scores, laboratory test data from blood samples taken within 6 h of admission were used. RESULTS: The IHM was 18.6% [19 patients; confidence interval (95% CI): 11.1-26.2%]. In the univariate analysis, transfusion with 2 or more units of packed red blood cells [PRBC; P=0.038; odds ratio (OR)=7.8; 95% CI: 1.2-61.3], platelets of 100/ml or less (P=0.014; OR=3.6; 95% CI: 1.2-10.3), Child-Turcotte-Pugh score of 10 or more (P=0.002; OR=4.0; 95% CI: 1.2-13.2) and MELD of 18 or more (P=0.044; OR=2.8; 95% CI: 1.1-8.1) were associated with IHM. In the multivariate analysis, transfusion with 2 or more units of PRBC (P=0.076; OR=6.7; 95% CI: 0.82-54.8), platelets of 100/ml or less (P=0.031; OR=3.4; 95% CI: 1.1-10.6) and MELD of 18 or more (P=0.048; OR=3.2; 95% CI: 1.02-10.1) remained independently associated with IHM. Applying a receiver operating characteristic analysis, the area under the curve derived from the multivariate analysis model was 0.76 (95% CI: 0.64-0.88) for IHM. CONCLUSION: Cirrhotic patients with OVB and MELD of 18 or more, platelets of 100/ml or less and requiring transfusion of 2 or more units of PRBC were at an increased risk of IHM. Overall, the logistic regression model correctly predicts 82.2% of IHM patients.


Subject(s)
Esophageal and Gastric Varices/mortality , Gastrointestinal Hemorrhage/mortality , Liver Cirrhosis/mortality , Adult , Aged , Aged, 80 and over , Erythrocyte Transfusion , Esophageal and Gastric Varices/drug therapy , Female , Gastrointestinal Agents/therapeutic use , Gastrointestinal Hemorrhage/drug therapy , Hospital Mortality , Hospitalization , Humans , Lypressin/analogs & derivatives , Lypressin/therapeutic use , Male , Middle Aged , Octreotide/therapeutic use , Platelet Count , Portugal/epidemiology , Risk Factors , Severity of Illness Index , Terlipressin , Vasoconstrictor Agents/therapeutic use
12.
Obes Surg ; 21(9): 1377-81, 2011 Sep.
Article in English | MEDLINE | ID: mdl-20838918

ABSTRACT

BACKGROUND: The high prevalence of Helicobacter pylori (HP) in our obese population undergoing Roux-en-Y bypass gastric surgery (69.4%) and the concern that it may exacerbate postoperative foregut symptoms and increase gastric cancer risk led us to adopt a policy of HP systematic eradication in this group of patients. Our aim, in obese patients undergoing bypass gastric surgery, was to compare effectivity of 7- and 14-days clarithromycin-based triple therapy as the first-line treatment for HP eradication. METHODS: Three hundred seventy-three patients [mean age 41.2 ± 10.3 years; 313 women (83.9%)] were HP positive determined by histology or urea breath test. In 2005, 94 patients (Group A) were treated with a 7-days triple therapy-proton pump inhibitor (PPI) b.i.d., clarithromycin (CL) 500 mg b.i.d., and amoxicillin (AMX) 1,000 mg b.i.d. Since 2006, 279 patients (Group B) were treated with a similar 14-days drug regimen-PPI b.i.d., CL 500 mg b.i.d., and AMX 1,000 mg b.i.d. Posttreatment HP status was assessed by C13 urea breath test 4-6 weeks after the end of therapy. RESULTS: The eradication rates were 67.0% (Group A) and 79.9% (Group B). The eradication rate achieved with 14-days triple therapy was significantly higher than with 7-days triple therapy (OR = 1.96; 95% CI: 1.16-3.30; p = 0.016). CONCLUSIONS: A 14-days triple therapy is more effective than 7-days triple therapy suggesting this regimen should be the first-line therapy for HP eradication in Portuguese obese patients undergoing bypass gastric surgery.


Subject(s)
Anti-Bacterial Agents/administration & dosage , Clarithromycin/administration & dosage , Gastric Bypass , Helicobacter Infections/drug therapy , Helicobacter pylori , Obesity, Morbid/surgery , Proton Pump Inhibitors/administration & dosage , Adult , Amoxicillin/administration & dosage , Amoxicillin/therapeutic use , Anti-Bacterial Agents/therapeutic use , Clarithromycin/therapeutic use , Drug Administration Schedule , Drug Therapy, Combination , Female , Helicobacter Infections/complications , Humans , Male , Middle Aged , Obesity, Morbid/complications , Proton Pump Inhibitors/therapeutic use , Retrospective Studies
13.
Acta Med Port ; 24 Suppl 2: 319-26, 2011 Dec.
Article in Portuguese | MEDLINE | ID: mdl-22849918

ABSTRACT

INTRODUCTION: The Minimal Hepatic Encephalopathy (MHE) has been associated to changes in life quality and in the aptitude to drive vehicles, to the appearance of an explicit form of Hepatic Encephalopathy and to a worst prognosis, including a high mortality risk. In this context, the early detection of this condition will lead to the reduction of its consequences. The Psychometric Hepatic Encephalopathy Score (PHES) consists in five easily applicable and scored tasks including the Trail Making Test A and B, the Digit Symbol Test, the Serial Dotting Test and the Line Drawing Test. The use of the PHES is recommended by the International Society for Hepatic Encephalopathy and Nitrogen Metabolism, for the MHE diagnosis and monitorization, as long as local translations and normative data are available. The main objective of the present study is the PHES normalization for the Portuguese Population. SUBJECTS AND METHODS: The tasks that compose the PHES were applied to 115 healthy subjects from four districts of the north of Portugal. Variables like age, gender, education years and the profession type were study in relation to the obtained results through the use of Student's t test and Pearson's correlation. In order to build the normality tables the linear regression was used. RESULTS: Age and education years were the independent variables more related to the performance on the five tasks. CONCLUSION: The availability of the normality tables will allow the MEH diagnosis in Portuguese patients with hepatic cirrhosis using an objective and internationally recommended method.


Subject(s)
Hepatic Encephalopathy/diagnosis , Neuropsychological Tests/standards , Adult , Female , Humans , Male , Portugal , Psychometrics
14.
Acta Med Port ; 24 Suppl 4: 1057-62, 2011 Dec.
Article in Portuguese | MEDLINE | ID: mdl-22863518

ABSTRACT

Crohn's disease (CD) is a progressive disease that is subdivided in three phenotypes: inflammatory, stricturing, and penetrating. At diagnosis most CD patients have inflammatory disease. However, the natural history of CD evolves over time to structural digestive tract complications (strictures and fistulae) which are associated with hospitalisations and surgeries. Nowadays, there is evidence that early treatment with immunosuppressants and biologics can interrupt the development of inflammation- destruction/fibrosis through its potential to induce complete mucosal healing. The change in CD natural history, mediated by mucosal healing, is associated with a reduction in serious complications (hospitalisations and surgeries). Nevertheless, the clinical course of CD varies considerably between patients and there is still no definition for the timing of immunosuppressants and/or biologics use. This medication is associated to certain risks (lymphomas and opportunistic infections) and the difficulty to predict, on an individual basis, the progression to complications have triggered efforts to identify risk factors that allow at diagnosis to classify patients in high and low risk groups and to tailor therapy. This paper is an updated compilation of evidence of clinical risk factors predictive for CD complications.


Subject(s)
Crohn Disease/complications , Humans , Prognosis
15.
Eur J Gastroenterol Hepatol ; 22(7): 868-71, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20545028

ABSTRACT

INTRODUCTION: Celiac disease (CD) affects up to 1% of the general population. Studies from several countries reported higher prevalence rates in Down syndrome (DS) patients. The aim of this study was to determine the CD prevalence in Portuguese DS patients. PATIENTS AND METHODS: The study cohort consisted of 98 DS patients (58 male and 40 female, 1-45 years). Serological screening was performed using immunoglobulin A (IgA) anti-endomysium antibody (EMA), determined by an immunofluorescence assay with monkey esophagus as substrate, and IgA anti-tissue transglutaminase (tTG), measured by an enzyme-linked immunosorbent assay with tissue transglutaminase as antigen. The serologically positive patients were selected for upper endoscopy with biopsy procedure. The intestinal mucosa biopsy specimens were classified according to the Marsh criteria. RESULTS: Nineteen patients (19.4%), nine children and 10 adults, were positive for IgA EMA and 12 (12.2%), eight children and four adults, for IgA anti-tTG. All the IgA anti-tTG positive patients were simultaneously positive for IgA EMA. The histological findings (Marsh III) confirmed CD in nine of the remaining 17 patients who underwent endoscopy and biopsy - prevalence rate of 9.2%. All Marsh III patients were IgA EMA positive, but four Marsh III patients were IgA anti-tTG negative. CONCLUSION: DS Portuguese patients have a high CD prevalence rate. This study supports that, in our population, the current recommendations for CD screening in DS patients should be implemented and screening must be EMA based.


Subject(s)
Celiac Disease/epidemiology , Down Syndrome/epidemiology , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Female , Humans , Immunoglobulin A/blood , Infant , Male , Mass Screening , Middle Aged , Portugal/epidemiology , Prevalence , Serologic Tests , Transglutaminases/immunology , Young Adult
16.
Ann Hematol ; 88(3): 229-34, 2009 Mar.
Article in English | MEDLINE | ID: mdl-18762941

ABSTRACT

The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y, a common HFE mutation. However, other mutations in HFE, transferrin receptor 2 (TFR2), hemojuvelin (HJV) and hepcidin (HAMP) genes, have also been reported in association with this pathology. A mutational analysis of these genes was carried out in 215 Portuguese iron-overloaded individuals previously characterized as non-C282Y or non-H63D homozygous and non-compound heterozygous. The aim was to determine the influence of these genes in the development of iron overload phenotypes in our population. Regarding HFE, some known mutations were found, as S65C and E277K. In addition, three novel missense mutations (L46W, D129N and Y230F) and one nonsense mutation (Y138X) were identified. In TFR2, besides the I238M polymorphism and the rare IVS5 -9T-->A mutation, a novel missense mutation was detected (F280L). Concerning HAMP, the deleterious mutation 5'UTR -25G-->A was found once, associated with Juvenile Hemochromatosis. In HJV, the A310G polymorphism, the novel E275E silent alteration and the novel putative splicing mutation (IVS2 +395C-->G) were identified. In conclusion, only a few number of mutations which can be linked to iron overload was found, revealing their modest contribution for the development of this phenotype in our population, and suggesting that their screening in routine diagnosis is not cost-effective.


Subject(s)
Hemochromatosis/genetics , Membrane Proteins/genetics , Mutation/genetics , Adult , Aged , Female , Hemochromatosis/diagnosis , Hemochromatosis Protein , Histocompatibility Antigens Class I/genetics , Humans , Iron Metabolism Disorders/diagnosis , Iron Metabolism Disorders/genetics , Iron Overload/diagnosis , Iron Overload/genetics , Male , Middle Aged , Portugal , Receptors, Transferrin/genetics , Sequence Homology, Amino Acid , Young Adult
17.
Acta Med Port ; 21(5): 427-32, 2008.
Article in English | MEDLINE | ID: mdl-19187684

ABSTRACT

INTRODUCTION: The appropriateness of the indications for upper gastro-intestinal endoscopy (EGD) is crucial in assessing quality in endoscopy units, improving cost-effectiveness and providing better patient care. Using the American Society for Gastrointestinal Endoscopy (ASGE) guidelines, the aim of this study was to evaluate the appropriate use of EGD and to measure the local accuracy of these guidelines. PATIENTS AND METHODS: Over a two year period information was gathered on 2305 consecutive patients--1146 (50% males)--of whom had an EGD performed at our unit. Patients were referred for EGD by other physicians of the hospital staff or through the gastroenterology out-patient clinic. The appropriateness, sensitivity, specificity and predictive value of the ASGE guidelines were established using EGD diagnosis as gold standard. Atrophic gastritis and hiatus hernia were considered irrelevant diagnosis. RESULTS: According to the ASGE guidelines the rate of inappropriateness was 20%. No lesions or irrelevant lesions were found in 30.6% EGD. Appropriately indicated endoscopies disclosed significantly more clinically relevant findings (71.3%) than endoscopies performed with indications that were not ASGE listed (61.7%) - p < 0.01, OR = 1.55, 95% CI (1.24-1.92) but no significant difference was found between appropriateness and inappropriateness in patients with a diagnosis of gastric cancer: p = 0.21, OR = 1.53, 95% CI (0.75-3.21). The sensitivity of the ASGE criteria was 82.1%, the specificity 25.2%, the positive predictive value 71% and the negative predictive value 38.1%. Gastric cancer was found in 10 (0.4%) of the patients not appropriately indicated. CONCLUSIONS: In this Portuguese population sample, the accuracy of the ASGE guidelines is too low to be confidently acceptable. This suggests that, in Portugal, a country with a high prevalence of gastric cancer, wider criteria must be applied, if useful local guidelines for appropriate referrals are expected.


Subject(s)
Endoscopy, Gastrointestinal , Practice Guidelines as Topic/standards , Adult , Female , Hospitals , Humans , Male , Middle Aged , Portugal , Reproducibility of Results
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