MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation

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Effect of bicarbonate alkalinity on gravimetric solids analysis in anaerobic wastewater treatment

Bicarbonate alkalinity plays an important role in the stability of biological reactors used in wastewater treatment, primarily in anaerobic systems. As some wastewaters tend to acidify readily, addition of an external alkali source may be necessary to maintain process stability. An assessment was made of the effect of sodium bicarbonate addition on the determination of solids concentration. The methodology consisted in accompanying a series of solids concentrations (total solids, TS; total volatile solids, TVS; and total fixed solids, TFS) in samples containing cheese whey and volatile acids used to simulate anaerobic reactor effluents. TS, TVS and TFS showed to be strongly affected by NaHCO3 addition, mainly due to an increase in TFS. This effect could be quantified by relating the experimental values to the theoretical ones from the stoichiometric equations for NaHCO3 decomposition and other compounds (sodium acetate and sodium propionate) formation with temperature increase. In this way, as one of the main parameters of assessing liquid effluent treatment systems is the reduction in solids present in the medium, the concentration of solids can be quantified more adequately by determining fixed solids from the inorganic salts present. This methodology showed to be adequate in cases where a significant amount of alkali is added.32961061

Alimentary fluoride intake in preschool children

<p>Abstract</p> <p>Background</p> <p>The knowledge of background alimentary fluoride intake in preschool children is of utmost importance for introducing optimal and safe caries preventive measures for both individuals and communities. The aim of this study was to assess the daily fluoride intake analyzing duplicate samples of food and beverages. An attempt was made to calculate the daily intake of fluoride from food and swallowed toothpaste.</p> <p>Methods</p> <p>Daily alimentary fluoride intake was measured in a group of 36 children with an average age of 4.75 years and an average weight of 20.69 kg at baseline, by means of a double plate method. This was repeated after six months. Parents recorded their child's diet over 24 hours and collected duplicated portions of food and beverages received by children during this period. Pooled samples of food and beverages were weighed and solid food samples were homogenized. Fluoride was quantitatively extracted from solid food samples by a microdiffusion method using hexadecyldisiloxane and perchloric acid. The content of fluoride extracted from solid food samples, as well as fluoride in beverages, was measured potentiometrically by means of a fluoride ion selective electrode.</p> <p>Results</p> <p>Average daily fluoride intake at baseline was 0.389 (SD 0.054) mg per day. Six months later it was 0.378 (SD 0.084) mg per day which represents 0.020 (SD 0.010) and 0.018 (SD 0.008) mg of fluoride respectively calculated per kg bw/day.</p> <p>When adding the values of unwanted fluoride intake from the toothpaste shown in the literature (0.17-1.21 mg per day) the estimate of the total daily intake of fluoride amounted to 0.554-1.594 mg/day and recalculated to the child's body weight to 0.027-0.077 mg/kg bw/day.</p> <p>Conclusions</p> <p>In the children studied, observed daily fluoride intake reached the threshold for safe fluoride intake. When adding the potential fluoride intake from swallowed toothpaste, alimentary intake reached the optimum range for daily fluoride intake. These results showed that in preschool children, when trying to maximize the benefit of fluoride in caries prevention and to minimize its risk, caution should be exercised when giving advice on the fluoride containing components of child's diet or prescribing fluoride supplements.</p

Factors associated with involuntary hospital admissions in technology-dependent children

Abstract OBJECTIVE To identify the factors associated with involuntary hospital admissions of technology-dependent children, in the municipality of Ribeirão Preto, São Paulo State, Brazil. METHOD A cross-sectional study, with a quantitative approach. After an active search, 124 children who qualified under the inclusion criteria, that is to say, children from birth to age 12, were identified. Data was collected in home visits to mothers or the people responsible for the children, through the application of a questionnaire. Analysis of the data followed the assumptions of the Generalized Linear Models technique. RESULTS 102 technology-dependent children aged between 6 months and 12 years participated in the study, of whom 57% were male. The average number of involuntary hospital admissions in the previous year among the children studied was 0.71 (±1.29). In the final model the following variables were significantly associated with the outcome: age (OR=0.991; CI95%=0.985-0.997), and the number of devices (OR=0.387; CI95%=0.219-0.684), which were characterized as factors of protection and quantity of medications (OR=1.532; CI95%=1.297-1.810), representing a risk factor for involuntary hospital admissions in technology-dependent children. CONCLUSION The results constitute input data for consideration of the process of care for technology-dependent children by supplying an explanatory model for involuntary hospital admissions for this client group

Fatal CTLA-4 Heterozygosity With Autoimmunity and Recurrent Infections: a De Novo Mutation

Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.info:eu-repo/semantics/publishedVersio

Genome of the Avirulent Human-Infective Trypanosome—Trypanosoma rangeli

Background: Trypanosoma rangeli is a hemoflagellate protozoan parasite infecting humans and other wild and domestic mammals across Central and South America. It does not cause human disease, but it can be mistaken for the etiologic agent of Chagas disease, Trypanosoma cruzi. We have sequenced the T. rangeli genome to provide new tools for elucidating the distinct and intriguing biology of this species and the key pathways related to interaction with its arthropod and mammalian hosts.  Methodology/Principal Findings: The T. rangeli haploid genome is ,24 Mb in length, and is the smallest and least repetitive trypanosomatid genome sequenced thus far. This parasite genome has shorter subtelomeric sequences compared to those of T. cruzi and T. brucei; displays intraspecific karyotype variability and lacks minichromosomes. Of the predicted 7,613 protein coding sequences, functional annotations could be determined for 2,415, while 5,043 are hypothetical proteins, some with evidence of protein expression. 7,101 genes (93%) are shared with other trypanosomatids that infect humans. An ortholog of the dcl2 gene involved in the T. brucei RNAi pathway was found in T. rangeli, but the RNAi machinery is non-functional since the other genes in this pathway are pseudogenized. T. rangeli is highly susceptible to oxidative stress, a phenotype that may be explained by a smaller number of anti-oxidant defense enzymes and heatshock proteins.  Conclusions/Significance: Phylogenetic comparison of nuclear and mitochondrial genes indicates that T. rangeli and T. cruzi are equidistant from T. brucei. In addition to revealing new aspects of trypanosome co-evolution within the vertebrate and invertebrate hosts, comparative genomic analysis with pathogenic trypanosomatids provides valuable new information that can be further explored with the aim of developing better diagnostic tools and/or therapeutic targets

Methods of induction of labour: a systematic review

<p>Abstract</p> <p>Background</p> <p>Rates of labour induction are increasing. We conducted this systematic review to assess the evidence supporting use of each method of labour induction.</p> <p>Methods</p> <p>We listed methods of labour induction then reviewed the evidence supporting each. We searched MEDLINE and the Cochrane Library between 1980 and November 2010 using multiple terms and combinations, including labor, induced/or induction of labor, prostaglandin or prostaglandins, misoprostol, Cytotec, 16,16,-dimethylprostaglandin E2 or E2, dinoprostone; Prepidil, Cervidil, Dinoprost, Carboprost or hemabate; prostin, oxytocin, misoprostol, membrane sweeping or membrane stripping, amniotomy, balloon catheter or Foley catheter, hygroscopic dilators, laminaria, dilapan, saline injection, nipple stimulation, intercourse, acupuncture, castor oil, herbs. We performed a best evidence review of the literature supporting each method. We identified 2048 abstracts and reviewed 283 full text articles. We preferentially included high quality systematic reviews or large randomised trials. Where no such studies existed, we included the best evidence available from smaller randomised or quasi-randomised trials.</p> <p>Results</p> <p>We included 46 full text articles. We assigned a quality rating to each included article and a strength of evidence rating to each body of literature. Prostaglandin E2 (PGE2) and vaginal misoprostol were more effective than oxytocin in bringing about vaginal delivery within 24 hours but were associated with more uterine hyperstimulation. Mechanical methods reduced uterine hyperstimulation compared with PGE2 and misoprostol, but increased maternal and neonatal infectious morbidity compared with other methods. Membrane sweeping reduced post-term gestations. Most included studies were too small to evaluate risk for rare adverse outcomes.</p> <p>Conclusions</p> <p>Research is needed to determine benefits and harms of many induction methods.</p