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1.
Future Sci OA ; 9(8): FSO872, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37621842

RESUMO

Aim: We aimed in this study to evaluate the impact of inflammatory bowel disease (IBD) on patients' professional life and to determine predictors of severe work productivity loss (WPL). Materials & methods: A cross sectional study including patients with a confirmed diagnosis of IBD. Work productivity was evaluated with the work productivity and activity impairment score. Results: Severe absenteeism and WPL were found in respectively 7 (5.1%) and 54 (39.1%) patients. In multivariate analysis, the following features were found to be independently associated with severe WPL: penetrating Crohn's disease (p: 0.001, OR: 6), anemia (p: 0.031, OR: 3.23), diarrhea (p < 0.001, OR: 11.23) and a secondary level of education (p: 0.003, OR: 1.95). Conclusion: Our results show that IBD have a substantial effect on patients' professional life.


Inflammatory bowel diseases (IBD) are chronic conditions that cause inflammation in the digestive system. We wanted to know how IBD affects people's ability to work and what factors contribute to work difficulties. We asked adults with IBD about their education, work conditions and medical history. We found that a significant number of patients experience severe work productivity loss and absenteeism. Factors such as certain types of IBD, anemia, diarrhea and lower education level were linked to more severe work problems. These findings emphasize the impact of IBD on work life and highlight the importance of addressing these challenges in patient care.

2.
Future Sci OA ; 9(1): FSO836, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37006228

RESUMO

Vasoactive intestinal peptide (VIP) secreting tumors (VIPomas) are insidious functional neuroendocrine tumors originating mainly from pancreatic islet cells. Hepatic localization is considered exceedingly rare as only few cases have been reported in the literature. Diagnostic and therapeutic management of this tumor is still not clearly codified and therefore represents a real challenge for clinicians. Herein we report a unique case of a primary hepatic VIPoma recurrence in a female patient 22 years after curative resection. The patient had two sessions of transarterial chemoembolization. Complete symptomatic improvement was achieved since the first day after the first session. This case highlights that long-term follow-up for patients with hepatic VIPoma is mandatory as recurrence could occur several years after curative surgical treatment.


VIPomas are rare tumors secreting a hormone that is vasoactive in the intestine causing severe diarrhea. The majority of VIPomas arise within the pancreas. The hepatic localization is extremely rare. We report a case of a very late recurrence of a primary hepatic VIPoma surgically treated 20 years ago. The case was managed with therapeutic radiology by blocking the blood supply to the tumors after administering anticancer drugs in the vessels near them.

3.
Cancer Genet ; 240: 45-53, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31739127

RESUMO

INTRODUCTION: Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited disease caused by germline variants in the APC gene. It is characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. Recently, biallelic germline variants in the base excision repair (BER) gene: MUTYH have been identified in patients with attenuated FAP and/or negative APC result. It can be responsible for an autosomal recessive inherited colorectal cancer syndrome (MAP syndrome: MUTYH-associated polyposis). OBJECTIVE: The aim of this study was to evaluate germline variants of MUTYH gene in Tunisian patients with attenuated FAP. METHODS: thirteen unrelated patients from Tunisia with attenuated FAP were screened for MUTYH germline variants. Direct sequencing was performed to identify point variants in this gene. RESULTS: A Biallelic MUTYH germline variant were found in all patients and showed an attenuated polyposis phenotype almost of them without extra-colic manifestations: The known pathogenic frameshift variant c.1227_1228dupGG (p. Glu410Glyfs) was found, in homozygous state, in 13 index patients. CONCLUSION: Patients with attenuated familial adenomatous polyposis (<=100) and no obvious vertical transmission of the disease should be considered for MUTYH gene testing.


Assuntos
Polipose Adenomatosa do Colo/genética , DNA Glicosilases/genética , Aconselhamento Genético , Predisposição Genética para Doença , Polipose Adenomatosa do Colo/diagnóstico , Adulto , Idade de Início , Consanguinidade , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Mutação em Linhagem Germinativa , Humanos , Mutação com Perda de Função , Masculino , Pessoa de Meia-Idade , Tunísia
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