Search results for "Mali"
showing 10 items of 3900 documents
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…
2015
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…
Benign oral vascular lesions treated by sclerotherapy with ethanolamine oleate : a retrospective study of 43 patients
2017
Background Although sclerotherapy is a common treatment for benign oral vascular lesions, there is no well-standardized protocol for this purpose. The aim of the present study was to describe the clinical characteristics of patients treated by sclerotherapy with ethanolamine oleate (EO), in order to contribute to a better understanding of this technique. Material and Methods Medical records and images of 90 patients treated by the same sclerotherapy protocol were retrieved and analysed. Thus, 43 cases with complete information were selected and described. Results The most affected age group was 41–70 years, with a female predominance and 86% of patients being Caucasian. Lips were the most a…
Voriconazole versus itraconazole for antifungal prophylaxis following allogeneic haematopoietic stem‐cell transplantation
2011
Antifungal prophylaxis for allogeneic haematopoietic stem-cell transplant (alloHCT) recipients should prevent invasive mould and yeast infections (IFIs) and be well tolerated. This prospective, randomized, open-label, multicentre study compared the efficacy and safety of voriconazole (234 patients) versus itraconazole (255 patients) in alloHCT recipients. The primary composite endpoint, success of prophylaxis, incorporated ability to tolerate study drug for ≥100 d (with ≤14 d interruption) with survival to day 180 without proven/probable IFI. Success of prophylaxis was significantly higher with voriconazole than itraconazole (48·7% vs. 33·2%, P 10%) treatment-related adverse events were vom…
Developments in esophageal surgery for adenocarcinoma: a comparison of two decades
2007
Abstract Background The objective of this study was to examine outcomes in patients undergoing esophageal resection for adenocarcinoma at our institution during a 20-year period and, in particular, to address temporal trends in long-term survival. Methods Out of 470 patients who underwent esophagectomy for malignancy between September 1985 and September 2005, a total number of 175 patients presented with esophageal adenocarcinoma. Patients enrolled in this study included AEG (adenocarcinoma of the esophagogastric junction) type I tumors only. Time trends were studied comparing two decades, 9/1985 to 9/1995 (DI) and 10/1995 to 9/2005 (DII). Results The overall survival was significantly more…
Hepatocellular carcinoma (HCC) vs. non-HCC: accuracy and reliability of Liver Imaging Reporting and Data System v2018
2019
PURPOSE: The Liver Imaging Reporting and Data System (LI-RADS) was created to standardize the diagnostic criteria for hepatocellular carcinoma (HCC), and has undergone multiple revisions including a recent update in 2018 (v2018). The primary aim of this study was to determine the diagnostic performance and interrater reliability (IRR) of LI-RADS v2018 for distinguishing HCC from non-HCC primary hepatic malignancy in patients ‘at-risk’ for HCC. A secondary aim was to assess the impact of changes introduced in the v2018 diagnostic algorithm. METHODS: This retrospective study combined a 10-year experience of pathologically-proven primary liver malignancies from two large liver transplant cente…
Parental occupational exposure to organic solvents and anencephaly in Mexico
2009
Objective: To assess the relationship between parental occupational exposure to organic solvents, and the risk of anencephaly in Mexico. Methods: A case-control study was conducted based on the registers of the Epidemiological Surveillance System for Neural Tube Defects in Mexico; 151 cases of anencephaly of ≥20 weeks’ gestation were included. A control, born alive and without any apparent congenital malformations at birth, was selected for each case in the same maternity service in which the case was born. Information on occupational exposures, lifestyle habits, reproductive history, use of medicines, supplementation with multivitamins and folic acid, was obtained by a general questionnair…
Perianal Fistula-Associated Carcinoma in Crohn's Disease: A Multicentre Retrospective Case Control Study.
2021
Abstract Background and Aims Carcinoma associated with perianal fistula in Crohn’s disease is a pending threat for patients. This study aimed to improve understanding and facilitate development of diagnostic and therapeutic strategies. Methods A retrospective case-control study was conducted at four German hospitals. The analysis included 40 patients with proven malignancy associated with perianal Crohn’s fistulas and 40 randomly selected controls with fistulizing perianal Crohn’s disease. Differences between groups were analysed and multivariate calculations were performed to describe risk factors for oncological outcomes. Results Histology revealed adenocarcinoma in 33/40 patients and squ…
Effect of sperm glutathione peroxidases 1 and 4 on embryo asymmetry and blastocyst quality in oocyte donation cycles
2005
Objective To prospectively determine the impact of concrete components of the sperm oxidative glutathione stress system in terms of enzymatic activity and mitochondrial RNA (mRNA) expression on embryo quality and reproductive outcome. Human spermatozoa use the glutathione system to inactivate reactive oxygen metabolites, and there is a close correlation between some components of the glutathione system and male fertility. However, very few data are published regarding this system in sperm cells and its effect on fertilization ability and embryo development in human beings. Design An oocyte-donation model, used to homogenize the female factor. Setting University-affiliated private IVF settin…
Survival study of leukoplakia malignant transformation in a region of northern Spain
2017
Background Oral leukoplakia is the most common potentially malignant disorder (PMD) of the oral cavity. The objectives of this study are to determine the clinicopathologic features in a group of patients with oral leukoplakia of Northern Spain (Galicia), determining the factors associated to clinical risk and analyzing the malignant transformation of these patients. Material and Methods We included 85 patients. We recorded sex and age, habits like alcohol and tobacco, size, clinical appearance, site, number of lesions, and presence or absence of dysplasia. We assess the association between risk factors and transformation and developed a logistic regression analysis. Finally we used the Kapl…
Is Routine Preoperative Upper Endoscopy in Gastric Banding Patients Really Necessary?
2006
Background: Preoperative evaluation for bariatric surgery is complex. Our investigation focused on the necessity for upper gastrointestinal (GI) endoscopy as a routine procedure before performing gastric banding. Methods: A consecutive series of 145 patients underwent laparoscopic adjustable gastric banding (LAGB). Gastroscopy was performed routinely before LAGB. All patients were interviewed before gastroscopy regarding gastroesophageal symptoms. Gastroscopic findings and the results of the interview were blinded and set in comparison. Furthermore, we analyzed whether upper GI symptoms, BMI, age or gender were predictive parameters for pathological findings on gastroscopy. Small hiatal her…