Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease. 相似文献
Background: Most theoretical models of self-determination suggest that both environmental and personal factors influence the development of self-determination. The design and implementation of interventions must be conducted with foreknowledge of such mediating and moderating factors if the intervention is to be successful.
Methods: The purpose of this study was to examine the degree to which several personal factors and school characteristics affect and explain students’ self-determination. A total of 232 students with intellectual disability from Spain participated. Their self-determination level was assessed by the ARC-INICO Scale.
Results: Students with moderate levels of intellectual disability obtained significantly lower scores on self-determination than their peers with mild intellectual disability. There were significant differences in relation to the level of support needs and their experience with transition programs. The level of support needs was a significant predictor.
Conclusion: These findings contribute to current research in this field and practical implications were discussed. 相似文献
This article begins by challenging the widely held view in neoliberal discourse that there is a necessary trade-off between higher efficiency and lower reduction of inequalities: the article empirically shows that the liberal, U.S. model has been less efficient economically (slower economic growth, higher unemployment) than the social model in existence in the European Union and in the majority of its member states. Based on the data presented, the authors criticize the adoption of features of the liberal model (such as deregulation of their labor markets, reduction of public social expenditures) by some European governments. The second section analyzes the causes for the slowdown of economic growth and the increase of unemployment in the European Union--that is, the application of monetarist and neoliberal policies in the institutional frame of the European Union, including the Stability Pact, the objectives and modus operandi of the European Central Bank, and the very limited resources available to the European Commission for stimulating and distributive functions. The third section details the reasons for these developments, including (besides historical considerations) the enormous influence of financial capital in the E.U. institutions and the very limited democracy. Proposals for change are included. 相似文献
Aim: In the last three decades, the segment of population aged 60 years and older has more than doubled in Brazil. People aged 80 years and older are expected to be the fastest-growing segment in the near future. This aim of this study was to analyze the legal structures currently in place in Brazil and to provide a framework for care policies and practices towards older-adults. Methods: This article focuses on past and present major socioeconomic burdens on this segment of the Brazilian population as well as on public achievements to overcome inequities. Results: Both the public health and the social security systems have been directed to provide preferential assistance to the aged. Nonetheless, the elderly remain the most impoverished segment of Brazil and carry the burden of an overall lack of specialized services. Moreover, socioeconomic inequalities and population diversity in Brazil affects elderly care, adding complexity to this unique scenario. Conclusion: Brazil has adopted legal hallmarks that substantially shifted public practices towards the elderly segment from a philanthropic status to a legitimate right for care and assistance. The demographic transition that took place provides an opportunity for innovative solutions in public policies for older adults in a developing economic environment. 相似文献
BACKGROUND: Gastrogastric fistula is a communication between the proximal gastric pouch and the distal gastric remnant, rarely described in the realm of bariatric procedures. The aim of this study was to review the existing literature about this topic and to demonstrate its laparoscopic treatment. METHODS: An extensive literature review found several articles reporting this complication. However, no citation was found describing the steps of the laparoscopic management of this situation. RESULTS: Gastrogastric fistula occurs in up to 6% of Roux-en-Y gastric bypasses. Two theories exist for fistula formation: (1) it is a technical complication derived from the incomplete division of the stomach during the creation of the pouch, and (2) it occurs after a staple-line failure, developing a leak with an abscess, which then drains into the distal stomach forming the fistula. Early symptoms include fever, tachycardia, and abdominal pain. Failure in weight loss is a late clinical sign observed in these patients. Diagnosis is based on radiologic study, upper endoscopy and computed tomography. When identified in the acute postoperative course, laparoscopic treatment is easy. Chronic fistulas are difficult to manage, and the laparoscopic approach is an alternative to open surgery. CONCLUSIONS: Gastrogastric fistula is a possible complication of Roux-en-Y gastric bypass and its laparoscopic treatment is feasible. 相似文献
Acquired cystic kidney disease (ACKD) can be developed duringchronic renal insufficiency. The probability of developing cysticdiseases rises with the increase of time in dialysis [1]. Menand African-American population are more likely to develop ACKD.Also, kidney volumes are bigger and cyst size increases fasterin this population [1,2]. Typical complications of ACKD areintra- and pericystic bleeding as well as rupture with retroperitonealhaemorrhage. Patients with ACKD also present a higher risk ofmalignant transformation. Haemoperitoneum is an unusual complicationin patients undergoing peritoneal dialysis (PD), most casesbeing attributed to mechanical, gynaecological or intraperitoneal 相似文献
A comparative retrospective study was performed on 100 patients who had undergone transurethral resection of a superficial bladder tumor (Ta-Tl) with no associated carcinoma in situ (group 1) and 100 patients who had undergone simultaneous transurethral resection of a superficial bladder tumor (Ta-Tl), with no associated carcinoma in situ, and benign prostatic hyperplasia (group II). Evaluation of the recurrences of prostatic urethral tumors in both groups showed that they appeared in 10 patients (12 recurrences) in group I and 10 patients (14 recurrences) in group II (p = not significant). These data enabled us to rule out the influence of simultaneous transurethral resection in cases of recurrences of prostatic urethral tumors. 相似文献