Clinics
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Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. ⋯ Spinocerebellar ataxia 3 was the most common subtype examined, followed by spinocerebellar ataxia 10. Patients with spinocerebellar ataxia 2 and 7 demonstrated highly suggestive features, whereas the phenotype of spinocerebellar ataxia 3 patients was highly pleomorphic and spinocerebellar ataxia 10 patients exhibited pure cerebellar ataxia. Epilepsy was absent in all of the patients with spinocerebellar ataxia 10 in this series.
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Immunoglobulin A nephropathy is the most common cause of chronic renal failure among primary glomerulonephritis patients. The ability to diagnose immunoglobulin A nephropathy remains poor. However, renal biopsy is an inconvenient, invasive, and painful examination, and no reliable biomarkers have been developed for use in routine patient evaluations. The aims of the present study were to identify immunoglobulin A nephropathy patients, to identify useful biomarkers of immunoglobulin A nephropathy and to establish a human immunoglobulin A nephropathy metabolic profile. ⋯ These metabolites investigated in this study may serve as potential biomarkers of immunoglobulin A nephropathy. Point scoring of pattern recognition analysis was able to distinguish immunoglobulin A nephropathy patients from healthy controls. However, there were no obvious differences between the low-risk and high-risk groups in our research. These results offer new, sensitive and specific, noninvasive approaches that may be of great benefit to immunoglobulin A nephropathy patients by enabling earlier diagnosis.
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The aim of this study was to determine whether and how the diameter of the vein that gives rise to the inflowing vein of the esophageal and gastric fundic varices secondary to posthepatitic cirrhosis, as measured with multidetector-row computed tomography, could predict the varices and their patterns. ⋯ The diameter of the splenic vein can be used to predict esophageal and gastric fundic varices and their patterns.
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This systematic review of the Brazilian and worldwide literature aimed to evaluate the incidence and causes of perioperative and anesthesia-related mortality in pediatric patients. Studies were identified by searching EMBASE (1951-2011), PubMed (1966-2011), LILACS (1986-2011), and SciElo (1995-2011). Each paper was revised to identify the author(s), the data source, the time period, the number of patients, the time of death, and the perioperative and anesthesia-related mortality rates. ⋯ Our systematic review of the literature shows that the pediatric anesthesia-related mortality rates in Brazil and in developed countries are similar, whereas the pediatric perioperative mortality rates are higher in Brazil compared with developed countries. Most cases of anesthesia-related mortality are associated with airway and cardiocirculatory events. The data regarding anesthesia-related and perioperative mortality rates may be useful in developing prevention strategies.
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Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in RET have been reported in up to 50% of the inherited forms of Hirschsprung disease and in 15-20% of sporadic cases of Hirschsprung disease. ⋯ Presently, there is strong evidence favoring the hypothesis that specific inactivating haplotypes play a key role in the fetal development of congenital megacolon/Hirschsprung disease. In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific RET haplotype was documented in patients with Hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma. Despite the limited number of cases, the present data favor the hypothesis that specific haplotypes not linked to RET germline mutations are the genetic causes of Hirschsprung disease.