Paciente con síndrome de intestino corto y progresión atípica de adenocarcinoma de endometrio

The most common location of distant metastasis of endometrial adenocarcinoma is the lung, although sometimes it could appear soft tissue involvement. Short bowel syndrome can potentially cause serious electrolite changes that require a global management. Patient admitted for severe electrolyte changes secondary to a short bowel syndrome after an intestinal resection. Octreotide LAR was successfully used to control intestinal losses. During the outpatient follow up was detected two soft tissue masses in gluteal region compatible with tumour progression of an endometrial adenocarcinoma diagnosed 10 years before. The usefulness of octreotide to control chronic diarrhoea in short bowel syndrome and other diseases should be taken into account as an option for the management of these diseases. The presence of soft tissue masses in a patient with a history of endometrial adenocarcinoma should alert on the possibility of tumour progression at that level.La afectación metastásica del adenocarcinoma de endometrio más frecuente es la pulmonar, ocasionalmente puede progresar a nivel de partes blandas. El síndrome de intestino corto puede provocar alteraciones iónicas potencialmente graves. Paciente que ingresa por alteraciones iónicas graves secundarias a un síndrome de intestino corto tras una resección por bridas. Para lograr un óptimo control de las pérdidas intestinales se utilizó con éxito octreótido LAR. Durante su seguimiento ambulatorio se detectaron dos masas de partes blandas en región glútea compatibles con progresión tumoral del adenocarcinoma de endometrio que había sido diagnosticado más de 10 años antes. La utilidad del octreótido para el control de la diarrea crónica en casos de síndrome de intestino corto y otras patologías, debe ser tenida en cuenta como una opción más a valorar de forma individualizada en cada enfermo. La presencia de masas de partes blandas en un paciente con antecedentes de adenocarcinoma de endometrio debe alertar sobre la posibilidad de una progresión tumoral a dicho nivel

A Single Nucleotide Polymorphism in the RASGRF2 Gene Is Associated with Alcoholic Liver Cirrhosis in Men

Background Genetic polymorphisms in the RAS gene family are associated with different diseases, which may include alcohol-related disorders. Previous studies showed an association of the allelic variant rs26907 in RASGRF2 gene with higher alcohol intake. Additionally, the rs61764370 polymorphism in the KRAS gene is located in a binding site for the let-7 micro-RNA family, which is potentially involved in alcohol-induced inflammation. Therefore, this study was designed to explore the association between these two polymorphisms and susceptibility to alcoholism or alcoholic liver disease (ALD). Methods We enrolled 301 male alcoholic patients and 156 healthy male volunteers in this study. Polymorphisms were genotyped by using TaqMan® PCR assays for allelic discrimination. Allelic and genotypic frequencies were compared between the two groups. Logistic regression analysis was performed to analyze the inheritance model. Results The A allele of the RASGRF2 polymorphism (rs26907) was significantly more prevalent among alcoholic patients with cirrhosis (23.2%) compared to alcoholic patients without ALD (14.2%). This difference remained significant in the group of patients with alcohol dependence (28.8% vs. 14.3%) but not in those with alcohol abuse (15.1% vs. 14.4%). Multivariable logistic regression analysis showed that the A allele of this polymorphism (AA or GA genotype) was associated with alcoholic cirrhosis both in the total group of alcoholics (odds ratio [OR]: 2.33, 95% confidence interval [CI]: 1.32–4.11; P = 0.002) and in the group of patients with alcohol dependence (OR: 3.1, 95% CI: 1.50–6.20; P = 0.001). Allelic distributions of the KRAS polymorphism (rs61764370) did not differ between the groups. Conclusions To our knowledge, this genetic association study represents the first to show an association of the RASGRF2 G>A (rs26907) polymorphism with ALD in men, particularly in the subgroup of patients with AD. The findings suggest the potential relevance of the RAS gene family in alcoholism and ALD

Genetic susceptibility to telomere shortening through the rs2293607 polymorphism is associated with a greater risk of alcohol use disorder

Telomere shortening is usually considered a biomarker of ageing. Harmful alcohol use promotes accelerated biological ageing and alcohol use disorders (AUDs) are associated with short telomere length (TL). This study was conducted to examine the relationship of TL to AUD and determine whether single nucleotide polymorphisms (SNPs) in TERC and TERT modulate this association. For this purpose, we genotyped TERC SNPs rs2293607, rs12696304, and rs16847897 and TERT SNPs rs2735940, rs2736100, and rs2736098 in 308 male patients with AUD and 255 sex-matched healthy controls and measured TL in a subset of 99 patients and 99 controls paired by age and smoking status. Our results showed that the mean TL was shorter in patients with AUD than in controls. The area under the ROC curve was 0.70 (P < 0.001). The GG genotype of TERC rs2293607 was more common among patients with AUD than among controls (9.8% vs. 5.1%; P = 0.038). No difference was found for the other SNPs. Carriers of the GG genotype of rs2293607 had shorter telomeres than did allele A carriers. In conclusion, patients with AUD had shorter telomeres. Genetic susceptibility to telomere shortening through the rs2293607 SNP is associated with a greater risk of AUD

Use of non-steroidal anti-inflammatory drugs and analgesics in a cohort of hospitalized elderly patients: Results from the REPOSI study.

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