Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response

Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused most often by mutations in the vasopressin V2 receptor (AVPR2). We studied a family which included a female patient with NDI with symptoms dating from infancy. The patient responded to large doses of desmopressin (dDAVP) which decreased urine volume from 10 to 4 I/day. Neither the parents nor the three sisters were polyuric. The patient was found to be a compound heterozygote for two novel recessive point mutations in the aquaporin-2 (AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is the site for inhibition of water permeation by mercurial compounds and is located near to the NPA motif conserved in all aquaporins. Osmotic water permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2 was not increased over water control, while expression of L22V cRNA increased the Pf to approximately 60% of that for wild-type AQP2. Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO cells showed that the C181W mutant had an endoplasmic reticulum-like intracellular distribution, whereas L22V and wild-type AQP2 showed endosome and plasma membrane staining. Water permeability assays showed a high Pf in cells expressing wild-type and L22V AQP2. This study indicates that AQP2 mutations can confer partially responsive NDI.      

ATG16L1 and NOD2 polymorphisms enhance phagocytosis in monocytes of Crohn’s disease patients

AIM:To investigate if the presence of relevant genetic polymorphisms has effect on the effectual clearance of bacteria by monocytes and granulocytes in patients with Crohn’s disease(CD).METHODS:In this study,we assessed the differential responses in phagocytosis by measuring the phagocytic activity and the percentage of active phagocytic monocytes and granulocytes in inflammatory bowel disease patients as well as healthy controls.As both autophagy related like 1(ATG16L1)and immunityrelated guanosine triphosphatase gene are autophagy genes associated with CD and more recently nucleo-tide-binding ligomerization domain-containing protein2(NOD2)has been identified as a potent inducer of autophagy we genotyped the patients for these variants and correlated this to the phagocytic reaction.The genotyping was done with restriction fragment length polymorphisms analysis and the phagocytosis was determined with the pHrodo?Escherichia coli Bioparticles Phagocytosis kit for flowcytometry.RESULTS:In this study,we demonstrate that analysis of the monocyte and granulocyte populations of patients with CD and ulcerative colitis showed a comparable phagocytic activity(ratio of mean fluorescence intensity)between the patient groups and the healthy controls.CD patients show a significantly higher phagocytic capacity(ratio mean percentage of phagocytic cells)compared to healthy controls(51.91%±2.85%vs 37.67%±7.06%,P=0.05).The extend of disease was not of influence.However,variants of ATG16L1(WT:2.03±0.19 vs homozygoot variant:4.38±0.37,P<0.009)as well as NOD2(C-ins)(heterozygous variant:42.08±2.94 vs homozygous variant:75.58±4.34(P=0.05)are associated with the phagocytic activity in patients with CD.CONCLUSION:Monocytes of CD patients show enhanced phagocytosis associated with the presence of ATG16L1 and NOD2 variants.This could be part of the pathophysiological mechanism resulting in the disease.     

Evaluation of Efficacy of Microwave Irradiation in Disinfecting Dental Gypsum Casts: An Ex Vivo Study

The aim of this study is to assess the efficacy of microwave irradiation in disinfecting gypsum casts and also to compare its efficacy with validated method of chemical disinfection. The present study is an ex vivo study conducted on a sample of five irreversible hydrocolloid impressions in vitro and on ten patients gypsum casts in vivo following standard impression techniques to check the efficacy of microwave oven irradiation and compare its efficacy with standard chemical method of disinfection. Results were analysed using Mann–Whitney test and Wilcoxon signed rank test. Untreated gypsum casts showed cfu/ml counts with a median log value of 6, while microwave-irradiated ones had median cfu/ml counts of 0. Casts poured from chemically disinfected impressions demonstrated cfu/ml counts with a median log value of 5. Microwave irradiation was found to be effective in disinfecting gypsum casts when compared to chemical disinfectant in disinfecting dental impressions.     

Schistosomiasis endemic in Burkina Faso

Burkina Faso, through the works of many teams of the OCCGE based in Bobo-Dioulasso, has signi-ficant data on several tropical endemics of which schistosomiasis. With the complementary works, it appears to be possible to establish a distribution of the schistosomiasis which reveals its importance. It will be the first stage of the planned national control program. The parasitologic data-gathering which covers the period of 1951 to 2000, used all the standard techniques. It is about Kato-Kartz and MIF for the intestinal schistosomiasis, centrifugation, filtration, serology reagent strips, macroscopy of urines and echography of the urinary system for the urinary schistosomiasis. All the eleven medical areas of the country have many sites submitted to parasitologic investigation. As regard the distribution of the two parasites involved with man (Schistosoma haematobium and S. mansoni), the data of prevalence (1% to 100%) and their distribution confirm their endemicity and the focal transmission. S. mansoni is located in eight medical areas particularly in the South and the West. S. haematobium is present in all the eleven medical areas of the country. In hydraulic planning as Sourou where the prevalences went from 23% to 70% for S. haematobium and from 0% to 69% for S. mansoni between 1987 and 1998. The situation requires a continuous monitoring. The spatial distribution of the six species of intermediate hosts shows that Bulinus truncatus and B. senegalensis Soudano-Sahelian species are present in all the ecological zones. B. globosus and Biomphalaria pfeifferi meet preferentially in the southern half of the country which reinforces the observation according to which the 14th northern parallel is often considered as the limit of septentrional extension of these two species. The other species Bulinus forskalii and B umbilicatus could have preference areas. All the species show a certain affinity with a type of biotope. The rarity and temporary aquatic systems lead to a concentration of the domestic and especially entertaining children activities around these biotopes very often contaminated. The phenomenon is amplified by the increase of contacts man-water, whose frequency and intensity are themselves dependent on activities related to hydro-agricultural planning. The analysis of the data shows, that in terms of colonization of the biotopes by molluscs and the relations between parasites and intermediate and final hosts, hydraulic planning turns out to be an amplifying factor of the species proliferation and parasitic flux host-parasite.     

Secondary school teachers' smoking in Ouagadougou, Burkina Faso

This study was carried out among teachers of 10 secondary schools in Ouagadougou, Burkina Faso, in order to contribute to the development and implementation of a tobacco control programme in the school setting. The study had the following objectives: 1) to determine the extent of teachers' smoking addiction in the secondary schools in the city of Ouagadougou, 2) to describe the perceptions, attitudes and behaviour of teachers in the secondary school setting when confronted with smoking in the city's schools, 3) to determine the teachers' level of knowledge with respect to the harmful effects of smoking. The study was carried out from May 25 to June 30, 2001, and it included 300 teachers, 218 of which were men and 82 women. The study demonstrated that it is important to inform and sensitise teachers based upon their attitudes and perceptions with respect to tobacco.     

Gamma-knife radiosurgery for trigeminal neuralgia

Gamma knife was installed at the PD Hinduja National Hospital and Medical Research Centre, Mumbai, India, in January 1997. In the first year of gamma-knife radiosurgery to January 1998, we treated 110 patients, of whom six had medically refractory trigeminal neuralgia. Seven treatments were administered to this group of six patients (one had bilateral neuralgia). This report evaluates the effectiveness of radiosurgery treatment in these patients. The median age of the patients was 56 years and there were five males and one female. Following Leksell stereotactic frame fixation, a magnetic resonance imaging scan was done in all. The Leksell gamma plan was used for planning. A radiosurgery dose of 70–80 Gy was delivered to the trigeminal root entry zone, 2–4 mm anterior to the junction of the pons and trigeminal nerve with a single 4 mm collimator helmet. Complete pain relief was achieved in four patients. Two had partial relief. No patient developed any radiosurgery related morbidity during the follow-up period of 5–16 months. Radiosurgery seems to be an effective approach for medically or surgically refractory trigeminal neuralgia.