Atypical presentation of adenosine deaminase 2 deficiency with bi‐allelic ADA2 mutation

Herein, we report a case of VAIHS with atypical clinical presentation of perianal abscess, fistula fever, and bi‐cytopenia including pathogenic ADA2 mutation suggesting that ADA2 deficiency be considered as a differential diagnosis of enlarging cutaneous abscess with no evidence of wound healing in the setting of leukopenia and neutropenia.     

Effect of solvents in extracting polyphenols and antioxidants of selected raw vegetables

Thirty-seven raw vegetables were extracted using four solvent systems: 70% acetone, 70% ethanol, 70% methanol, and distilled water. The extracts were tested for their total phenolic content, total flavonoid content and antioxidant activities (using diphenylpicryl-hydrazyl (DPPH) and ferric reducing antioxidant power (FRAP) assays). The results revealed the effect of different extracting solvents in altering the quantitative analyses of all vegetables and 70% acetone was identified as the most efficient solvent for extracting polyphenolic antioxidants from the vegetables. The highest total phenolic content and total flavonoid content were obtained from 70% acetone extract of Portulaca oleracea (138.2 ± 2.1 mg GAE/g dw basis) and 70% methanol extract of Cosmos caudatus (27.7 ± 1.0 mg QE/g dw basis), respectively. The 70% acetone extract of Etlingera elatior with moderate amount of total phenolic content exhibited the highest antioxidant activity in both assays. The correlation analyses within 37 different extracts of each solvent extraction demonstrated weak to moderate relationships between all the studied parameters. The highest r value of 0.7139 (p < 0.001) was determined between total phenolic contents and FRAP values of the 70% methanol extracts. Meanwhile, a wide range of correlation coefficients was derived from correlation analyses within four different extracts of each vegetable, with the highest relationship between total phenolic contents and FRAP values for the extracts of Coriandrum sativum (r = 0.9998, p < 0.001).     

Three techniques for simpler, safer, and cost-effective rigid ureteroscopy

Postureteroscopy colic, accumulation of irrigant fluid in the bladder, and advancement of the ureteroscope through narrow ureters are some of the problems commonly encountered during ureteroscopy. Three methods to overcome these problems and to make ureteroscopy technically easy, safe and cost-effective are described.     

Vasopressin-independent regulation of collecting duct aquaporin-2 in food deprivation

BACKGROUND: Humans and animals are frequently subjected to food deprivation or starvation. However, the adaptation of the kidney to this condition is not well understood. The purpose of these studies was to examine the effects of food deprivation on water handling by the kidney, the expression levels of collecting duct (CD) water channel aquaporin-2 (AQP2), and to determine the role of vasopressin in the adaptation of AQP2 to food deprivation. METHODS: Sprague-Dawley (SD) and Brattleboro rats were placed in metabolic cages and deprived of food but had free access to water for 72 hours. Water balance and urine osmolality were measured daily. Kidney tissues were isolated and examined for the expression of AQP2 using semiquantitative immunoblotting and Northern hybridization. The circulating level of vasopressin and the mRNA expression levels of its precursor were determined by radioimmunoassay and Northern hybridization, respectively. RESULTS: In SD rats, the first 24 hours of food deprivation is associated with a significant polyuria and decreased urine osmolality (Uosm). This correlated with a significant down-regulation of AQP2 in the cortex and outer medulla. After 72 hours of food deprivation, Uosm increased above baseline, and urine volume dropped to a lower value. This was associated with a rebound increase in AQP2 expression in the cortex and OM and its up-regulation in the inner medulla. Interestingly, vasopressin mRNA expression and plasma levels were unchanged during food deprivation. Further, in homozygous Brattleboro rats, in which endogenous vasopressin is absent, food deprivation caused changes in urine volume, urine osmolality, and AQP2 expression, which are qualitatively similar to those observed in normal rats. CONCLUSION: Food deprivation impairs water handling by the kidney by causing dual changes in urine volume and urine osmolality. This effect is associated with parallel alterations in the expression of AQP2 and is independent of vasopressin activity. It is concluded that the increase in water reabsorption in the CD is an adaptive response of the kidney to a long period of food deprivation and is mediated via a vasopressin-independent mechanism.     

An assessment of a new reminder therapy technique for ceasing digit sucking habits in children

Twenty-one digit-sucker children aged 4-12 old years participated in the assessment of a new reminder therapy technique called "long sleeve sleeping gown ". The result of this study indicated that fifteen children (71.4%) out of 21 were able to stop digit-sucking habits after the application of long sleeve's gown during child's bedtime for 6 weeks. The children who failed to cease this digit-sucking habit (28.6%) were found to not accept to complete the trial period or their mothers thought that they were too young to stop the habit. Among the success group no child was reported to return to digit-sucking 3 months after implementation of long sleeves gown.     

Raising urinary citrate lowers calcium oxalate and calcium phosphate crystal formation in whole urine

Crystal formation in whole urine was studied by the technique of rapid evaporation to 1,250 mosmol/l with and without raising citrate concentration by 40-50%. The added citrate reduced calcium oxalate crystal formation at pH 5.3 by about 25% and reduced calcium phosphate crystal formation at pH 6.8 by some 42%. These results support the view that citrate is important in maintaining calcium in solution in whole urine, and that raising the urinary citrate could be effective treatment for calcium oxalate/phosphate urolithiasis.     

Severe CD8 deficiency in a child with miliary tuberculosis

This report described a 6-month-old boy who presented with miliary tuberculosis and severe CD8 deficiency, which is most likely secondary to miliary tuberculosis since his CD8 was back to normal 6 month after therapy and primary CD8 deficiency, (ZAP 70 defect) was ruled out. To our knowledge this is the first paediatric case reported with severe CD8 deficiency secondary to miliary TB.     

Islet Transplantation in Patients with Diabetes Mellitus

Islet transplantation offers patients with type 1 diabetes mellitus freedom from long-term insulin therapy and a degree of metabolic control that is far superior to injected insulin. The hope is that near-perfect glucose control sustained over time will prevent progression of secondary diabetic complications. The selection of optimal immunosuppressive agents for islet transplantation has been a formidable challenge, given the need to overcome both autoimmune and alloimmune barriers, as well as the potential toxicity of immunosuppressive agents on transplanted islets. Early strategies relied on protocols that had proven success in solid organ transplantation and consisted of azathioprine, cyclosporine and corticosteroids. Under these protocols, fewer than 10% of patients were able to achieve insulin independence. The development of the 'Edmonton Protocol' dramatically transformed clinical outcomes in islet transplantation in recent years through the introduction of a more potent, less diabetogenic, and corticosteroid-free immunosuppressive regimen consisting of sirolimus, low-dose tacrolimus, and induction anti-interleukin-2 receptor antibody. While insulin independence rates under this protocol have been highly successful, patients must be maintained on lifelong immunosuppression. While the risk of malignancy, post-transplant lymphoma and sepsis have been low and diminishing in transplanted patients to date, fears of these complications and a host of drug-related adverse effects have precluded broader application. Patients undergoing islet transplantation today must exchange insulin for chronic immunosuppressive therapy, and therefore the procedure can only be justified in patients with very unstable forms of diabetes, or in those with another solid organ allograft who already endure the risks of immunosuppression. Advances in more specific and less toxic immunosuppressive agents together with progress in better understanding the biology of diabetes will lead to more suitable strategies to control both alloimmune and recurrent autoimmune reactions. These protocols, ultimately aimed at establishing tolerance, are an essential pre-requisite to move towards providing islet transplantation earlier in the course of the disease, including transplantation in children. This review addresses the evolution of immunosuppressive strategies in islet transplantation, and highlights some novel agents in pre-clinical development or in early clinical trials that may offer considerable promise in facilitating the induction of tolerance.     

Evaluation of cleaning methods applied in home environments after renovation and remodeling activities

We conducted a cleaning trial in 40 northern New Jersey homes where home renovation and remodeling (R&R) activities were undertaken. Two cleaning protocols were used in the study: a specific method recommended by the US Department of Housing and Urban Development (HUD), in the 1995 "Guidelines for the Evaluation and Control of Lead-Based Paint Hazards in Housing," using a high-efficiency particulate air (HEPA)-filtered vacuum cleaner and a tri-sodium phosphate solution (TSP); and an alternative method using a household vacuum cleaner and a household detergent. Eligible homes were built before the 1970s with potential lead-based paint and had recent R&R activities without thorough cleaning. The two cleaning protocols were randomly assigned to the participants' homes and followed the HUD-recommended three-step procedure: vacuuming, wet washing, and repeat vacuuming. Wipe sampling was conducted on floor surfaces or windowsills before and after cleaning to evaluate the efficacy. All floor and windowsill data indicated that both methods (TSP/HEPA and non-TSP/non-HEPA) were effective in reducing lead loading on the surfaces (P < 0.001). When cleaning was applied to surfaces with initial lead loading above the clearance standards, the reductions were even greater, above 95% for either cleaning method. The mixed-effect model analysis showed no significant difference between the two methods. Baseline lead loading was found to be associated with lead loading reduction significantly on floors (P < 0.001) and marginally on windowsills (P = 0.077). Such relations were different between the two cleaning methods significantly on floors (P < 0.001) and marginally on windowsills (P = 0.066), with the TSP/HEPA method being favored for higher baseline levels and the non-TSP/non-HEPA method for lower baseline levels. For the 10 homes with lead abatement, almost all post-cleaning lead loadings were below the standards using either cleaning method. Based on our results, we recommend that contractors or homeowners can use a household vacuum cleaner and a household detergent to clean lead-contaminated environments after R&R activities when HUD-recommended equipment is not available.