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1.
Bull Cancer ; 110(5): 512-520, 2023 May.
Artículo en Francés | MEDLINE | ID: mdl-35963792

RESUMEN

About 5% of gastric cancers are associated with hereditary cancer syndromes. Histology is paramount in this context, as major susceptibility genes are associated with specific subtypes. Germline pathogenic variants in CDH1 and CTNNA1 cause Hereditary Diffuse Gastric Cancer (HDGC). Major advances have been made in the past ten years regarding HDGC. Penetrance estimates for diffuse cancer are now lower than previously thought, at 30-40%. Surveillance upper gastrointestinal endoscopy is now an acceptable alternative to prophylactic total gastrectomy. Indeed, its sensitivity in detecting advanced disease is satisfactory assuming it is performed by an expert and according to a specific protocol. The risk of intestinal-type gastric cancer is increased in patients with Lynch syndrome, although it is much lower than the risk of colorectal and endometrial cancer. Intestinal-type gastric cancers are also observed in excess in patients with hereditary polyposis, the main one being APC-associated familial adenomatous polyposis. The main and most clinically relevant manifestations in patients with polyposes remain colorectal and duodenal polyps and carcinomas, well ahead of gastric cancer. Finally, recent data point towards increased gastric cancer risk in hereditary breast and ovarian cancer.


Asunto(s)
Poliposis Adenomatosa del Colon , Neoplasias Colorrectales Hereditarias sin Poliposis , Síndromes Neoplásicos Hereditarios , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/genética , Neoplasias Gástricas/patología , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/genética , Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/genética , Penetrancia , Mutación de Línea Germinal , Cadherinas/genética , Predisposición Genética a la Enfermedad
2.
World J Gastroenterol ; 28(9): 961-972, 2022 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-35317057

RESUMEN

BACKGROUND: Crohn's disease (CD) is complicated by perianal fistulas in approximately 20% of patients. Achieving permanent fistula closure remains a challenge for physicians. An association between serum anti-tumor necrosis factor-α concentrations and clinical outcomes in patients with CD has been demonstrated; however, little information is available on serum adalimumab (ADA) concentrations and remission of perianal fistulas in such patients. AIM: To study the relationship between serum ADA concentrations and clinical remission of CD-associated perianal fistulas. METHODS: This cross-sectional study of patients with CD-associated perianal fistulas treated with ADA was performed at four French hospitals between December 2013 and March 2018. At the time of each serum ADA concentration measurement, we collected information about the patients and their fistulas. The primary study endpoint was clinical remission of fistulas defined as the absence of drainage (in accordance with Present's criteria), with a PDAI ≤ 4, absence of a seton and assessment of the overall evaluation as favorable by the proctologist at the relevant center. We also assessed fistula healing [defined as being in clinical and radiological (magnetic resonance imaging, MRI) remission] and adverse events. RESULTS: The study cohort comprised 34 patients who underwent 56 evaluations (patients had between one and four evaluations). Fifteen patients had clinical remissions (44%), four of whom had healed fistulas on MRI. Serum ADA concentrations were significantly higher at evaluations in which clinical remission was identified than at evaluations in which it was not [14 (10-16) vs 10 (2-15) µg/mL, P = 0.01]. Serum ADA concentrations were comparable at the times of evaluation of patients with and without healed fistulas [11 (7-14) vs 10 (4-16) µg/mL, P = 0.69]. The adverse event rate did not differ between different serum ADA concentrations. CONCLUSION: We found a significant association between high serum ADA concentrations and clinical remission of CD-associated perianal fistulas.


Asunto(s)
Enfermedad de Crohn , Fístula Cutánea , Fístula Rectal , Adalimumab/uso terapéutico , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/diagnóstico , Enfermedad de Crohn/tratamiento farmacológico , Estudios Transversales , Fístula Cutánea/tratamiento farmacológico , Fístula Cutánea/etiología , Humanos , Fístula Rectal/tratamiento farmacológico , Fístula Rectal/etiología
3.
IDCases ; 24: e01111, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33842207

RESUMEN

We report a case of reactivated biopsy-proven cytomegalovirus proctitis complicating the course of severe COVID-19 pneumonia treated with dexamethasone, anakinra and lopinavir/ritonavir. No other contributing factor was found than iatrogenic immunosuppression and COVID-19 immune dysregulation. We draw attention to the immunosuppressive risk when treating severe COVID-19 pneumonia with immunomodulators.

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