A novel deletion mutation in the <Emphasis Type="Italic">TUSC3</Emphasis> gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Background  

Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes for non syndromic X linked ID) while for autosomal recessive nonsyndromic ID (NSID) only 30 loci and 6 genes have been reported to date.     

Permeability studies of artificial and natural cancellous bone structures

In the development of artificial cancellous bones, two major factors need to be considered: the integrity of the overall structure and its permeability. Whilst there have been many studies analysing the mechanical properties of artificial and natural cancellous bones, permeability studies, especially those using numerical simulation, are scarce. In this study, idealised cancellous bones were simulated from the morphological indices of natural cancellous bone. Three different orientations were also simulated to compare the anisotropic nature of the structure. Computational fluid dynamics methods were used to analyse fluid flow through the cancellous structures. A constant mass flow rate was used to determine the intrinsic permeability of the virtual specimens. The results showed similar permeability of the prismatic plate-and-rod model to the natural cancellous bone. The tetrakaidecahedral rod model had the highest permeability under simulated blood flow conditions, but the plate counterpart had the lowest. Analyses on the anisotropy of the virtual specimens showed the highest permeability for the horizontal orientation. Linear relationships were found between permeability and the two physical properties, porosity and bone surface area.     

Effects of enhanced viscosity on canine gastric and intestinal motility

BACKGROUND AND AIM: The aim of this study was to investigate the effect of enhanced viscosity on gastric emptying and gastrointestinal motor and myoelectrical activities in dogs. METHOD: The study was performed in eight healthy female hound dogs chronically implanted with four pairs of gastric and two pairs of intestinal serosal electrodes and a duodenal fistula. Each dog was studied in three sessions and fed with three test meals with different viscosity. Gastric emptying was monitored for 2 h simultaneously with gastric and intestinal myoelectrical recordings. RESULTS: The liquid test meal containing either 0.78% or 1.21% of galactomannan significantly delayed gastric emptying but had no effect on postprandial blood glucose levels in comparison with the meal containing no galactomannan. The liquid test meal containing either 0.78% or 1.21% of galactomannan significantly increased the frequency and strength of intestinal motility but had no effect on intestinal slow wave rhythms. The product with enhanced viscosity had no effect on gastric motor activity or gastric slow waves. CONCLUSION: It was concluded that enhanced viscosity delays gastric emptying, increases postprandial intestinal but not gastric motility, and has no effects on gastric or intestinal slow waves.     

A report of 9 cases of neurosarcoidosis

INTRODUCTION: Neurological involvement in sarcoidosis is rare and highly variable. To date, no consensus was reached about the diagnosis approach. We report a case series of 9 patients with neuosarcoidosis, with favorable outcome under therapy. MATERIALS AND METHODS: We examined a case series of 9 patients with neurosarcoidosis. Clinical, radiological, therapeutic features and outcome were studied. RESULTS: Six of the nine patients were females. Patients' age ranged from 31 to 70 years. Initial neurological symptoms lead to the diagnosis of systemic sarcoidosis in all patients. Central nervous system involvement was found in 77 percent with cranial nerve involvement in 55 percent. Twenty-three percent of patients presented with peripheral neuropathy and 33 percent with meningitis. The diagnosis was definite in 2 patients, probable in one and possible in six others. All patients were given steroid therapy. Total remission was obtained in three and partial remission in three. Three patients remained stable and one died. CONCLUSION: Histological signs are not constant in neurosarcoidosis. The lack of these signs should lead the physician to search for latent extraneurological symptoms which are suggestive of the diagnosis. Nervous biopsy can thus be avoided.     

Prognostic factors in renal cell carcinoma: association of preoperative sodium concentration with survival.

PURPOSE: Conventional renal cell carcinoma (RCC) has a variable natural history, and determining individual prognosis is important to guide management. We have examined the prognostic significance of a large number of hematologic and biochemical variables, as well as traditional tumor-related factors in patients with RCC. EXPERIMENTAL DESIGN: Patients undergoing nephrectomy for newly diagnosed RCC between September 1998 and March 2005 were invited to participate. Clinical, pathologic, and laboratory data were recorded in each case, and immunophenotyping was carried out on a subset of patients. A planned subset analysis of patients presenting with N0M0 disease was done. RESULTS: Two hundred twelve patients with RCC formed the study population. In addition to tumor-related factors, multivariate analyses revealed preoperative serum sodium concentration to be independently and significantly associated with overall survival and disease-free survival when considered as both a continuous variable and when dichotomized to above and below the median value [139 mmol/L; reference range 135-145 mmol/L, hazard ratio 0.44, 95% confidence interval (95% CI) 0.22-0.88, P = 0.014]. Five-year overall survival estimates for patients above and below the median serum sodium were 67.6% (95% CI 54.2-80.9) and 44.3% (95% CI 32.8-55.8), respectively. These findings persisted in the N0M0 subgroup analysis. CONCLUSIONS: We have confirmed the prognostic value of traditional tumor-related factors but, to our knowledge, these are the first data to show that low preoperative sodium concentration may be an important factor associated with reduced survival in patients with RCC, suggesting that serum sodium should be considered with established prognostic variables in modeling survival in RCC.     

Effects of weight loss on nonalcoholic fatty liver disease

Nonalcoholic fatty liver disease (NAFLD) is one of the most prevalent liver diseases worldwide, affecting men, women, and children. This is due, in part, to the obesity epidemic, which is associated with increased prevalence of NAFLD. The NAFLD spectrum ranges from simple steatosis to nonalcoholic steatohepatitis (NASH), which is the potentially progressive form. NAFLD is associated with metabolic syndrome and insulin resistance. Treatment recommendations include weight reduction through both diet and physical activity, and weight-loss surgery for extreme obesity. Most medical regimens target components of the metabolic syndrome or oxidative stress associated with the pathogenesis of NASH. These include antiobesity regimens, insulin sensitizers, antihyperlipidemics, and antioxidants. Bariatric surgery is effective for achieving and maintaining weight loss and reversing the complications of metabolic syndrome. On the other hand, the literature lacks well-designed, randomized control trials that assess the efficacy of anti-obesity regimens on histologic and long-term outcomes of NAFLD.