Gynecological history to diagnosis and pregnancy outcomes in diagnosed Wilson’s disease patients under therapy – A bicentric matched-control cohort study

Introduction: most studies narrowly focus on pregnancy outcome comparisons between Wilson’s disease (WD) patients on and off treatment. We aimed to identify menses irregularities in untreated WD, and to evaluate pregnancy outcomes in treated WD patients as compared to matched controls (with and without liver disease).Methods: females with WD, hepatitis C (liver disease controls), and other gastrointestinal conditions (controls without liver disease) were identified at two tertiary hospital gastroenterology departments. Gynecological and obstetric data were retrospectively collected. A comparison of gynecological and obstetric outcomes was performed between the groups, and regression models were used to further assess obstetric outcomes.Results: a total of 18 females with WD were identified, comprising 19 pregnancies under treatment in 11 patients, and 20 females were included in each control group. Age and liver disease stage were adjusted between groups. The incidence of menses irregularities was higher for WD (late menarche, 83 % vs. 10 % vs. 10 %, p < 0.01; irregular cycles, 100 % vs. 20 % vs. 20 %, p < 0.01; amenorrhea, 67 % vs. 10 % vs. 5 %, p < 0.01). Logistic regression models identified WD as a predictor of miscarriage and low birth weight (OR: 6.0; CI: 1.1-33.3; p < 0.05) but not of birth defects. Neither therapies (D-penicillamine 300 mg or zinc acetate 150 mg) nor disease presentation (hepatic and/or neurological) were associated with obstetric complications in WD subjects Conclusion: there was a higher incidence of menses irregularities in untreated females with WD. In addition, our data suggest that treated WD still carries a higher risk of spontaneous abortion and low birth weight when compared to matched control groups with and without liver disease. (AU)

Gynecological history to diagnosis and pregnancy outcomes in diagnosed Wilson's disease patients under therapy - A bicentric matched-control cohort study.

INTRODUCTION: most studies narrowly focus on pregnancy outcome comparisons between Wilson's disease (WD) patients on and off treatment. We aimed to identify menses irregularities in untreated WD, and to evaluate pregnancy outcomes in treated WD patients as compared to matched controls (with and without liver disease). METHODS: females with WD, hepatitis C (liver disease controls), and other gastrointestinal conditions (controls without liver disease) were identified at two tertiary hospital gastroenterology departments. Gynecological and obstetric data were retrospectively collected. A comparison of gynecological and obstetric outcomes was performed between the groups, and regression models were used to further assess obstetric outcomes. RESULTS: a total of 18 females with WD were identified, comprising 19 pregnancies under treatment in 11 patients, and 20 females were included in each control group. Age and liver disease stage were adjusted between groups. The incidence of menses irregularities was higher for WD (late menarche, 83 % vs. 10 % vs. 10 %, p < 0.01; irregular cycles, 100 % vs. 20 % vs. 20 %, p < 0.01; amenorrhea, 67 % vs. 10 % vs. 5 %, p < 0.01). Logistic regression models identified WD as a predictor of miscarriage and low birth weight (OR: 6.0; CI: 1.1-33.3; p < 0.05) but not of birth defects. Neither therapies (D-penicillamine 300 mg or zinc acetate 150 mg) nor disease presentation (hepatic and/or neurological) were associated with obstetric complications in WD subjects. CONCLUSION: there was a higher incidence of menses irregularities in untreated females with WD. In addition, our data suggest that treated WD still carries a higher risk of spontaneous abortion and low birth weight when compared to matched control groups with and without liver disease.

Health-related quality of life and utilities in gastric premalignant conditions and malignant lesions: a multicentre study in a high prevalence country.

BACKGROUND AND AIMS: A recent review of economic studies relating to gastric cancer revealed that authors use different tests to estimate utilities in patients with and without gastric cancer. Our aim was to determine the utilities of gastric premalignant conditions and adenocarcinoma with a single standardized health measure instrument. METHODS: Cross-sectional nationwide study of patients undergoing upper endoscopy (n=1,434) using the EQ-5D-5L quality of life (QoL) questionnaire. RESULTS: According to EQ-5D-5L, utilities in individuals without gastric lesions were 0.78 (95% confidence interval: 0.76-0.80), with gastric premalignant conditions 0.79 (0.77-0.81), previously treated for gastric cancer 0.77 (0.73-0.81) and with present cancer 0.68 (0.55-0.81). Self-reported QoL according to the visual analogue scale (VAS) for the same groups were 0.67 (0.66-0.69), 0.67 (0.66-0.69), 0.62 (0.59-0.65) and 0.62 (0.54-0.70) respectively. Utilities were consistently lower in women versus men (no lesions 0.71 vs. 0.78; premalignant conditions 0.70 vs. 0.82; treated for cancer 0.72 vs. 0.78 and present cancer 0.66 vs. 0.70). CONCLUSION: The health-related QoL utilities of patients with premalignant conditions are similar to those without gastric diseases whereas patients with present cancer show decreased utilities. Moreover, women had consistently lower utilities than men. These results confirm that the use of a single standardized instrument such as the EQ-5D-5L for all stages of the gastric carcinogenesis cascade is feasible and that it captures differences between conditions and gender dissimilarities, being relevant information for authors pretending to conduct further cost-utility analysis.

DRESS syndrome: a case report and literature review.

DRESS syndrome (drug rash, eosinophilia and systemic symptoms) is an idiosyncratic drug reaction characterised by rash, fever, lymphadenopathy and internal organ involvement. The authors report a case of this syndrome presenting with fever, generalised pruritus, macular rash and cholestatic hepatitis during allopurinol treatment. This case resolved with drug withdrawal, but the death rate in the setting of hepatic failure can reach 10%. Rapid diagnosis is crucial as prompt withdrawal of the offending drug is the key of the treatment, while the potential role of corticosteroids remains controversial.

A comparative study of two methods of colonic cleansing before colonoscopy.

BACKGROUND/AIMS: good colonic preparation is essential to perform a complete and safe colonoscopy. The preparation used in the Endoscopy Unit was adopted after testing it against the classic 4-liter polyethylene glicol (PEG) preparation (Klean-Prep). Recently a new 3-liter PEG preparation was commercialised in Portugal, Endo-Falk, which appeared to be simpler and effective. The present study compared the preparation we usually use (a combination of 4 tablets of bisacodyl with 2-liter PEG and enemas) with this new preparation. METHODOLOGY: we enrolled 305 patients in 2 groups. Group 1 was given our usual preparation, as described above and group 2 was given the new 3-liter preparation, Endo-Falk. All patients were ambulatory, and only patients undergoing total colonoscopies were included. Patients with benign or malignant stenosis and patients who had previously undergone colorectal resection were excluded. Preparation was graded as good when there were no stools and little liquid in the colon, fair when there were stools or liquid that could be aspirated and did not obscure the mucosa and bad when stools or excess liquid prevented an adequate view of the surface or precluded polipectomy. RESULTS: The present study included 164 male and 141 female patients, with a mean age of 61.3 years (no difference between the demographic data). In group 1 the preparation was good in 57.5%, fair in 28.5% and bad in 14% of patients and in group 2 the preparation was good in 33.1%, fair in 48.9% and bad in 18% (p < 0.001). Colonoscopies were complete in 89.9% of all patients. CONCLUSIONS: The usual preparation was better than the new 3-liter PEG solution.