Summary Background In previous studies, nitazoxanide has demonstrated a cytoprotective effect against rotavirus, reducing the duration of diarrhea in comparison to placebo. We designed a randomized, ...single-blind, controlled trial in order to assess the effectiveness of nitazoxanide and probiotics in comparison with a control group. Methods Seventy-five children aged from 28 days to 24 months, with rotavirus diarrhea, were randomly assigned to receive either oral nitazoxanide (15 mg/kg/day) twice a day for three days, a combination of oral probiotics, 1 g twice a day for five days, or only oral or systemic rehydration solutions. The duration of diarrhea and of hospitalization were the primary outcome measures, and daily stool frequency, vomiting, and fever were some of the secondary outcome measures analyzed. Results The median duration of hospitalization was significantly shorter ( p = 0.017) in patients who received nitazoxanide (81 h) and probiotics (72 h) compared to patients who received oral rehydration solution alone (108 h). Similarly, the median duration of diarrhea was significantly reduced ( p = 0.009) in children who received nitazoxanide (54 h) and probiotics (48 h) compared to the control group (79 h). Conclusions Treatment with nitazoxanide and probiotics is effective in the management of children with acute rotavirus diarrhea. Small differences in favor of nitazoxanide were found in comparison with probiotics. Nitazoxanide is an important treatment option for rotavirus diarrhea.
Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. ...At UMC Ljubljana, we conducted a retrospective register-based study to present 15 years of PGT service within the public healthcare system in Slovenia. We collected the data of the PGT cycles from 2004 to 2019 and compared clinical outcomes for chromosomal and monogenic diseases using different embryo biopsy and testing approaches. In addition, we assessed the extent to which PGT has become the preferred option compared to classic prenatal diagnostics. We treated 211 couples, 110 with single gene disorder, 88 with structural chromosome rearrangement and 13 for numerical chromosome aberration. There were 375 PGT cycles with oocyte retrieval, while embryo transfer was possible in 263 cases resulting in 78 deliveries and 84 children. Altogether, the clinical pregnancy rate per embryo transfer was 31% in 2004–2016 (blastomere biopsy) and 43% in 2017–19 (blastocyst biopsy), respectively. We assessed that approximately a third of couples would opt for PGT, while the rest preferred natural conception with prenatal diagnosis. Our results show that providing a PGT service within the public healthcare system has become a considerable option in pregnancy planning for couples at risk of transmitting a severe genetic disease to their offspring. In Slovenia, approximately a third of couples would opt for PGT. Although the number of cycles is small, our clinical results are comparable to larger centres.
Objectives – The objective of this study was to estimate the prevalence of Huntington’s disease (HD) in Slovenia using direct mutation analysis.
Materials and methods – Symptomatic patients and ...presymptomatic individuals at risk for HD referred to the Institute of Medical Genetics between 1997 and 2007 were included in the study. The patients were ascertained through multiple sources. The prevalence was estimated on 31 December 2006.
Results – A total of 116 and 68 individuals with CAG repeat number >36 were symptomatic and presymptomatic, respectively. The prevalence of HD in Slovenia was estimated at 5.16/105 (95% confidence interval 4.16–6.16).
Conclusions – This is the first report on the epidemiology and prevalence of HD in Slovenia. The prevalence of HD is comparable with previously reported data in other European countries. In Slovenia, a higher proportion of individuals at risk for HD decide on predictive mutational testing as compared with the estimated numbers for Europe, United States, Canada and Australia.
Density banding in skeletons of reef-building corals is a valuable source of proxy environmental data. However, skeletal growth strategy has a significant impact on the apparent timing of ...density-band formation. Some corals employ a strategy where the tissue occupies previously formed skeleton during as the new band forms, which leads to differences between the actual and apparent band timing. To investigate this effect, we collected cores from female and male colonies of
Siderastrea siderea
and report tissue thicknesses and density-related growth parameters over a 17-yr interval. Correlating these results with monthly sea surface temperature (SST) shows that maximum skeletal density in the female coincides with low winter SSTs, whereas in the male, it coincides with high summer SSTs. Furthermore, maximum skeletal densities in the female coincide with peak Sr/Ca values, whereas in the male, they coincide with low Sr/Ca values. Both results indicate a 6-month difference in the apparent timing of density-band formation between genders. Examination of skeletal extension rates also show that the male has thicker tissue and extends faster, whereas the female has thinner tissue and a denser skeleton—but both calcify at the same rate. The correlation between extension and calcification, combined with the fact that density banding arises from thickening of the skeleton throughout the depth reached by the tissue layer, implies that
S. siderea
has the same growth strategy as massive
Porites
, investing its calcification resources into linear extension. In addition, differences in tissue thicknesses suggest that females offset the greater energy requirements of gamete production by generating less tissue, resulting in differences in the apparent timing of density-band formation. Such gender-related offsets may be common in other corals and require that environmental reconstructions be made from sexed colonies and that, in fossil corals where sex cannot be determined, reconstructions must be duplicated in different colonies.
Genetic causes of premature ovarian failure (POF) comprise less than one-third of all cases, among them X chromosome abnormalities, mutations and polymorphisms in some genes. The frequency of ...X-chromosome mosaicism in women with sporadic POF has been found to range between 3 and 10%, whereas the prevalence of POF in carriers of the FMR1 premutation is estimated to range between 13 and 25%. We report two successful pregnancy outcomes after in vitro fertilization-embryo transfer with donated oocytes in a woman with severe POF of a complex genetic origin. Chromosome analysis, fluorescence in situ hybridization on cultured peripheral blood lymphocytes and buccal mucosal cells, and molecular genetic studies, using autosomal, Y-chromosomal polymorphic microsatellite or short tandem repeat markers and CGG repeats in the FMR1 gene, were performed. FMR1 premutation, sex chromosome mosaicism and blood lymphocyte microchimerism were found. Assisted reproduction techniques can be safely used in POF women after a thorough clinical evaluation and genetic counselling.
Erythrodermic psoriasis is a rare generalized clinical presentation of psoriasis in children and adults. Its systemic involvement and a diverse range of clinical findings in the joint and nails are ...commonly described. A high index of suspicion and an exhaustive differential diagnosis involving other causes of erythroderma should be initially considered.
We present the case of a 9-year-old native Hispanic girl with severe erythrodermic psoriasis associated with uncommon advanced nail and joint manifestations. Our patient showed an excellent response to methotrexate medication.
This case shows clinical features not commonly described or reported in severe cases of erythrodermic psoriasis, including severe and rare nail and arthritic findings in a pediatric scenario.
Neurocysticercosis is a public health problem in many developing countries and is the most frequent parasitic disease of the brain. The human tapeworm carrier is the main risk factor for acquiring ...neurocysticercosis. Since the parasite lodges only in the human intestine, experimental models of Taenia solium taeniosis have been explored. Macaques, pigs, dogs, cats and rabbits are unsuccessful hosts even in immunodepressed status. By contrast, rodents are adequate hosts since tapeworms with mature, pregravid and, in some cases, gravid proglottids develop after infection. In this review, information that has been generated with experimental models of taeniosis due to T. solium is discussed. Initially, the use of the model for immunodiagnosis of human taeniosis and evaluation of intervention measures is summarized. Next, descriptions of tapeworms and comparison of hamsters, gerbils and other mammals as experimental models are discussed, as well as data on the humoral immune response, the inflammatory reaction and the production of cytokines associated to Th1 and Th2 responses in the intestinal mucosa. Finally, evaluation of protection induced against the development of tapeworms by recombinant T. solium calreticulin in hamsters is summarized and compared to other studies.
A procedure for validating landslide susceptibility maps was applied in a study area in northern Spain and the results obtained compared. Validation was used to carry out sensitivity analysis for ...individual variables and combinations of variables. The validity of different map-making methods was tested, as well as the utility of different types of Favourability Functions. The results obtained show that validation is essential to determine the predictive value of susceptibility maps. It also helps to better select the most suitable function and significant variables, thus improving the efficiency of the mapping process. Validation based on a temporal strategy makes it possible to derive hazard maps from susceptibility maps.
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