Objective. To analyse aggregated AST results for key microorganisms collected through the 2022 reports of chief specialists in clinical microbiology and antimicrobial resistance. Materials and ...Methods. The study included an analysis of the interpretation criteria used in the laboratories and an evaluation of the AST reports. Data were obtained from the clinical microbiology and antimicrobial resistance annual reporting system. Reports were analyzed using EUCAST guidelines for expected resistance phenotypes and expected susceptible phenotypes. Data processing and analysis were realized using the «R» programming language. The 95% CI for the percentages of inaccuracies/errors distributed by federal districts was calculated using the Wilson method. Results. A combination of several interpretation standards was used in 27.78% of laboratories, MUK 4.2.1890-04 was noted as one of the options in 57.6% of laboratories. Irrelevant standards of interpretation with a lag of 1 year or more were used in a significant number of cases. The highest percentage of errors/ inaccuracies by the type «expected resistance» was observed for A. baumannii – 14,06% (N = 9163), E. faecium – 8,05% (N = 3451) and S. pneumoniae – 6,18% (N = 2779). «Susceptibility categorization in the absence of interpretive breakpoints» was highest for S. aureus – 13.24% (N = 19784) and S. pneumoniae – 8.76% (N = 3942). Rare phenotype was determined in the highest percentage in relation to S. pneumoniae and antimicrobials: vancomycin – 54.04% and linezolid – 64.6%. Conclusions. The study revealed a significant number of errors/inaccuracies in the data reported. The use of irrelevant interpretation criteria, the exclusion of situations with rare phenotypes and expected resistance, may contribute to a significant increase in the likelihood of inappropriate antibacterial prescribing.
Summary
Pinctada margaritifera is French Polynesia's most economically important aquaculture species. This pearl oyster has the specific ability to produce cultured pearls with a very wide range of ...colours, depending on the colour phenotypes of donor oysters used. Its aquaculture is still based on natural spat collection from wild stocks. We investigated three rare colour variants of P. margaritifera – orange flesh, and red and white shell colour phenotypes – in comparison with the wild‐type black flesh and shell commonly found in this species. The study aimed to assess the geographic distribution and genetic basis of these colour variants. Colour frequencies were evaluated during transfer and graft processes of pearl oyster seed captured at collector stations. Among the collection locations studied, Mangareva Island showed the highest rate of the orange flesh phenotype, whereas Takaroa and Takume atolls had relatively high rates of red and white shell phenotypes respectively. Broodstocks were made of these rare colour variants, and crosses were performed to produce first‐ and second‐generation progenies to investigate segregation. The results were consistent with Mendelian ratios and suggest a distinct model with no co‐dominance: (i) a two‐allele model for flesh trait, whereby the orange allele is recessive to the black fleshed type, and (ii) a three‐allele model for shell trait, whereby the black wild‐type allele is dominant to the red coloration, which is dominant to the white shell. Furthermore, the proposed model provides the basis for producing selected donor pearl oyster lines through hatchery propagation.
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BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UILJ, UKNU, UL, UM, UPUK
DESIGN:Rapid CD4 cell loss represents an HIV phenotype used to identify causal variants of accelerated disease progression. The optimal rate and threshold for identifying this extreme phenotype in ...recently infected individuals is unclear.
METHODS:Using a cohort of patients with known dates of HIV-1 seroconversion (SC), CASCADE (Concerted Action on SeroConversion on AIDS and Death in Europe), we identified proportions experiencing nadir CD4 cell levels within 1 year of SC, and assessed their mean AIDS-free survival time at 10-year follow-up and hazard of AIDS/death, compared with those whose CD4 remained >500 cells per cubic millimeter. Follow-up was censored at December 31, 1996 to avoid bias due to combination antiretroviral therapy initiation.
RESULTS:Of 4876 individuals, 2.8%, 7.3%, and 24.9% experienced ≥1 CD4 <100, 200, and 350 cells per cubic millimeter, respectively, within 1 year of SC. Minimum CD4 levels of 30, 166, 231, and 506 cells per cubic millimeter were experienced during this period by 1%, 5%, 10%, and 50% of individuals, respectively. Mean (95% confidence interval) AIDS-free survival at 10 years follow-up was 2.9 (2.3 to 3.6), 5.5 (5.0 to 6.1), 6.7 (6.5 to 7.0), 7.4 (7.2 to 7.6), and 8.1 (7.9 to 8.3), for those with minimum counts ≤100, 100–200, 200–350, 350–500, >500 cells per cubic millimeter, respectively. Using counts of >500 cells per cubic millimeter as reference, the hazard ratios (95% confidence interval) of AIDS/death were 15.0 (11.9 to 18.9), 3.6 (2.9 to 4.5), 2.1 (1.8 to 2.4), and 1.5 (1.3 to 1.7), respectively. The hazard ratio increased to 37.5 (26.5 to 53.1) when a minimum CD4 count <100 was confirmed within 1 year of SC.
CONCLUSION:At least 1 CD4 ≤100 cells per cubic millimeter within the first year of SC identifies a rare group of individuals at high risk of disease progression and could form the basis for defining the rapid progressor phenotype.
to reveal the determinants of the development of iron overload in patients with acute leukemias (AL) and aplastic anemia (AA).
The investigation included 104 patients, including 64 with various types ...of AL, 31 with AA, and 9 with myelodysplastic syndromes (MDS). A group affiliation and an erythrocyte phenotype were determined from rhesus system antigens in all the patients and the HFE gene was studied to identify mutations. For control of siderosis, the authors determined serum iron (SI) by a colorimetric technique, by applying the kits of the AGAT firm (Russia), serum ferritin (SF) by an immunoradiometric method, by using the kits of Immunotech (Czechia). The volume of transfusion was estimated in the period of June 2007 to November 2009.
There is evidence for a relationship between the higher level of SF and the number of transfusions. SF was 1046.1 microg/l in patients, H63D heterozygous carriers who had received less than 10 packed red blood cell transfusions and 2856 microg/l in those who had 20 transfusions (p < 0.005). HFE gene mutation carriage accelerates iron accumulation and is an additional risk factor for siderosis. In patients with transfusion chimeras and a rare phenotype in terms of rhesus antigens, packed red blood cell transfusion results in a much more increase in iron stores.
The most important factor of iron overload acceleration is no specific choice of packed red blood cells for patients with rare combinations of red blood cell antigens and for those with artificially induced chimeras.
The preference for melanistic males was studied in two populations of eastern mosquitofish (Gambusia holbrooki, Pisces: Poeciliidae), one from Florida and one from northern Italy. Melanism in the ...eastern mosquitofish is a Y--linked character, expressed in males only. Melanistic males have black spots varying in size and number. In the Florida population, melanistic males are common, whereas in the Italian population they have never been observed. Females were male-deprived for at least 2 months before being tested in a dichotomous choice chamber. Italian females showed a significant preference for unpigmented males from their own population, whereas Florida females preferred melanistic males. When given the choice between males with few (< 10% of the body surface) and males with many (> 50%) black spots, Italian females preferred males with few black spots and Florida females those with many black spots. The preference of the Italian females for unpigmented males was confirmed in females reared from birth to maturity in the presence of only melanistic males. The preference of Florida females for melanistic males was also confirmed in females reared from birth to maturity in the presence of only unpigmented males. Altogether, these results demonstrate that in the eastern mosquitofish there is polymorphism in female preference and that this preference does not have an environmental basis.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UILJ, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
The cis-AB is a very rare phenotype in the ABO blood group system. It corresponds to a special ABO allele encoding a glycosyltransferase that is capable of synthesizing both A and B antigens. Until ...now, gene sequences of only 3 cis-AB alleles were characterized. One was the A(1v) allele with a nucleotide substitution G803C at codon 268; the second was the B allele with a nucleotide substitution A796C at codon 266; and the third arose from a point mutation C700T at codon 234 in exon 7 of the B transferase gene. In this study, we found a novel cis-AB allele when performing paternity tests in Chang Gung Memorial Hospital in Taiwan. Although his father was O blood type, a serologically AB blood type child was confirmed as being his father's offspring on the basis of 16 microsatellite markers (99.97% plausibility for the child and father). Exons 6 and 7 of the child's ABO alleles were characterized by direct sequencing and gene cloning. The results showed that the child has one O(1) allele and the second allele is almost identical to A(1*02) allele except for a single point mutation at nucleotide position 796, where an A replaces a C and leads to a change of leucine to methionine at amino acid 266. This implies that the child's O(1) allele was inherited from his father and the other allele was inherited from his mother. In conclusion, the novel cis-AB allele reported here is derived from the A transferase gene through a nucleotide substitution C796A, which differs from the 3 previously reported cis-AB alleles.
In the course of a disputed paternity case, a rare phenotype of factor C3 (F-F0.8), not described so far, has been found in three generations of one and the same family. The frequency in the ...population of such a phenotype is not known.
Background
X‐linked retinoschisis (XLRS) is one type of retinal dystrophy leading to the schisis of the neural retina and causing reduced visual acuity. The study aimed to investigate the clinical ...manifestations and retinoschisin 1 (RS1) mutations in Chinese patients with early onset XLRS.
Methods
Thirty‐eight probands with early onset XLRS were recruited, comprehensive ophthalmic examination was performed. A targeted gene panel was used to test the RS1 mutations.
Results
All probands had RS1 hemizygous mutations including 16 known and 14 novel mutations. The median onset age was 2 years old (range 0.1–6 years). Probands with onset age ≤1 years. had more complications (retinal detachment and vitreous hemorrhage, p < 0.001), more mutations outside the discoidin domain and more non‐frameshift mutations than probands with onset age >1 years. Macular and peripheral involvement was present in 77.27% of probands, and inner and outer nuclear layer splitting were present in 53.57% of probands. Electroretinography showed an electronegative waveform. The relatively rare phenotypes of lamellar macular hole and macular hole were present in a unilateral eye in three probands.
Conclusion
In conclusion, the early onset XLRS developed more severe complications which need close monitoring and clinical manifestations illustrated here may facilitate the early diagnosis of retinoschisis.
The median onset age was 2 years old (years, range 0.1–6 years). Probands with onset age (≤1 years) had more complications (retinal detachment and vitreous hemorrhage, p < 0.001), more mutations outside the discoidin domain and more non‐frameshift mutations than probands with onset age (>1 years). Macular and peripheral involvement was present in 77.27% of probands, and inner and outer nuclear layer splitting were present in 53.57% of probands.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Recent advances in genetic technologies have given researchers the ability to characterize genetic marker data for large germplasm collections. While some studies are able to capitalize on entire ...germplasm collections, others, especially those that focus on traits that are difficult to phenotype, instead focus on a subset of the collection. Typically, subsets are selected using phenotypic or geographic data. One major hurdle in identifying favorable subsets is selecting a criterion that can be used to quantify the value of a subset. This study compares two such criteria, polymorphism information content, and a new criterion based on kinship matrices, which will be called the mean of transformed kinships. These criteria were explored in terms of their ability to select subsets that are favorable for genome wide association studies, and in their ability to select subsets that contain a high number of rare phenotypes. Using phenotypic and genotypic data that has been amassed from the USDA Barley Core Collection, evidence was found to support the hypotheses that subsets based on the mean of transformed kinships were well-suited to select subsets intended for genome-wide association studies, but the same was not found for polymorphism information content. Inversely, evidence was found to support the hypothesis that subsets based on polymorphism information content were well-suited to select subsets intended for rare-phenotype discovery, but the same was not found for subsets selected using the mean of transformed kinships criterion. Tools to select subsets using these two criteria have been released in the R package “GeneticSubsetter.”
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
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