Partial characterization of three &#946-defensin gene transcripts in river buffalo and cattle

In this study, the tracheal tissues from Egyptian river buffalo and cattle were screened for the presence of three bovine β-defensin gene transcripts. Three primer pairs were designed on the basis of published Bos taurus sequences for partial amplification of β-defensin 4, β-defensin 10 and β-defensin 11 complementary DNA (cDNA). The amplified cDNA products of the three genes in both buffalo and cattle were sequenced. The sequences were analyzed to verify gene identity and to identify differences with the corresponding buffalo (Bubalus bubalis bubalis) and/or cattle (Bos taurus) β-defensin mRNAs published sequences in the GenBank database. β-Defensin 4 and β-defensin 10 primer pairs amplified cDNA sequences in buffalo and cattle that corresponded to those mRNAs of the two genes in GenBank database with nucleotide percentage homology of 83 and 84% for β-defensin 4, and 87 and 90% for β-defensin10, respectively. The translated protein sequences obtained for buffalo and cattle showed protein percentage similarity of 86 and 81% for β-defensin 4, and 87.5 and 87% for β-defensin 10 with the corresponding proteins of B. bubalis bubalis and/or B. taurus in GenBank database. On the other hand, cDNA sequences amplified by β-defensin 11 primer pair in both buffalo and cattle corresponded more to lingual antimicrobial peptide (LAP) mRNAs of B. bubalis bubalis and B. taurus (94 and 82% nucleotide similarity and 92 and 77% translated-protein similarity) rather than β-defensin 11 mRNA of B. taurus (68 and 66% nucleotide similarity and 74 and 65.5% translated-protein similarity).Key words: β-Defensin 4, β-defensin 10, β-defensin 11, lingual antimicrobial peptide (LAP), river buffalo, cattle

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8–13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05–6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50–75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life. Funding Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron

Dental caries in primary and permanent teeth in children's worldwide, 1995 to 2019: a systematic review and meta-analysis

Background: Early childhood caries (ECC) is a type of dental caries in the teeth of infants and children that is represented as one of the most prevalent dental problems in this period. Various studies have reported different types of prevalence of dental caries in primary and permanent teeth in children worldwide. However, there has been no comprehensive study to summarize the results of these studies in general, so this study aimed to determine the prevalence of dental caries in primary and permanent teeth in children in different continents of the world during a systematic review and meta-analysis. Methods: In this review study, articles were extracted by searching in the national and international databases of SID, MagIran, IranMedex, IranDoc, Cochrane, Embase, ScienceDirect, Scopus, PubMed, and Web of Science (ISI) between 1995 and December 2019. Random effects model was used for analysis and heterogeneity of studies was evaluated by using the I2 index. Data were analyzed by using the Comprehensive Meta-Analysis (Version 2) software. Findings: In this study, a total of 164 articles (81 articles on the prevalence of dental caries in primary teeth and 83 articles on the prevalence of dental caries in permanent teeth) were entered the meta-analysis. The prevalence of dental caries in primary teeth in children in the world with a sample size of 80,405 was 46.2% (95% CI: 41.6–50.8%), and the prevalence of dental caries in permanent teeth in children in the world with a sample size of 1,454,871 was 53.8% (95% CI: 50–57.5%). Regarding the heterogeneity on the basis of meta-regression analysis, there was a significant difference in the prevalence of dental caries in primary and permanent teeth in children in different continents of the world. With increasing the sample size and the year of study, dental caries in primary teeth increased and in permanent teeth decreased. Conclusion: The results of this study showed that the prevalence of primary and permanent dental caries in children in the world was found to be high. Therefore, appropriate strategies should be implemented to improve the aforementioned situation and to troubleshoot and monitor at all levels by providing feedback to hospitals

Characterization and sequence analysis of cysteine and glycine-rich protein 3 in Egyptian native cattle and river native buffalo cDNA sequences

Cysteine and glycine rich protein, CSRP3 also referred to as the muscle LIM protein (MLP), has been investigated in native Egyptian cattle and buffalo (river buffalo). RNA extraction and cDNA synthesis were conducted from different tissue samples. Primers specific for CSRP3 were designed using known cDNA sequences of Bos taurus published in database with different accession numbers. Polymerase chain reaction (PCR) was performed and products were purified and sequenced. Sequence analysis and alignment were carried out using CLUSTAL W (1.83). Multiple nucleotide sequence alignment between CSRP3 cDNA amplicons of native buffalo and cattle revealed 89% identity. B. taurus CSRP3 mRNA (Cardiac LIM protein) [NM 001024689.2] showed 85 and 87% identity in nucleic acid sequences and 82 and 84% homology in amino acid sequences with native cattle and buffalo, respectively. A 90% homology was detected between the amino acid sequences of river buffalo and native cattle. Fourty nine translated amino acids out of 51 in both buffalo and cattle are found to be part of the conserved CSRP3 LIM1 domain protein which comprises 57 codons. The LIM1 domain in Egyptian buffalo and cattle CSRP3 showed only 87 and 85% similarity with B. taurus CSRP3 LIM1 domain, respectively, which are caused mainly by frame shift mutation resulting from a single nucleotide deletion. Sequence nucleotide alignment of both native buffalo and cattle CSRP3 cDNAs sequences and B. taurus whole genome showed high percent identity (94-100%) with B. taurus chromosome 29 |NC-007330.3|. This confirmed the assignment of CSRP3 to cattle chromosome BTA 29 and allowed the indirect assignment of CSRP3 to river buffalo chromosome BBU5p (the homologue of BTA 29) based on the extensive chromosome homology and conservation between cattle and river buffalo.Key words: CSRP3, cattle, river buffalo

Analysis of genetic variation in different sheep breeds using microsatellites

Genetic variation in three Egyptian indigenous sheep breeds namely: Barki, Ossimi and Rahmani were investigated using fourteen microsatellite loci. The total number of alleles ranged from 6 in CSSM47 locus to 14 in TGLA 377 locus. The fourteen tested loci were all polymorphic in the three breeds. Major differences between the breeds were found at ten of the tested loci, where the alleles at the highest frequency are different in the three breeds. While, at loci OARCP20, OARVH72, CSSM47 and OARAE129, two of the tested breeds have similar alleles at the highest allele frequency. The average direct count of heterozygosity overall loci in each tested breed was less than the expected heterozygosity. Tests of genotype frequencies for deviation from the Hardy-Weinberg equilibrium (HWE), at each locus overall breeds, revealed significant departure from HWE due to heterozygote deficiency. A slightly high rate of inbreeding within the three breeds was noticed (global FIS = 0.308). Low genetic differentiation was detected by estimation of FST index between all pairs of breeds. Cluster analysis revealed that Ossimi and Rahmani breeds clustered independently from Barki breed at 0.43 of genetic distance. The obtained results can be useful for the development of a rational breeding strategy for genetic improvement of sheep in Egypt

Accuracy of Model-based RSA Contour Reduction in a Typical Clinical Application

Marker-based roentgen stereophotogrammetric analysis (RSA) is an accurate method for measuring in vivo implant migration, which requires attachment of tantalum markers to the implant. Model-based RSA allows migration measurement without implant markers; digital pose estimation, which can be thought of as casting a shadow of a surface model of the implant into the stereoradiographs, is used instead. The number of surface models required in a given clinical study depends on the number of implanted sizes and design variations of prostheses. Contour selection can be used to limit pose estimation to areas of the prosthesis that do not vary with design, reducing the number of surface models required. The effect of contour reduction on the accuracy of the model-based method was investigated using three different contour selection schemes on tibial components in 24 patients at 3 and 6 month followup. The agreement interval (mean ± 2 standard deviations), which bounds the differences between the marker-based and model-based methods with contour reduction was smaller than −0.028 ± 0.254 mm. The data suggest that contour reduction does not result in unacceptable loss of model-based RSA accuracy, and that the model-based method can be used interchangeably with the marker-based method for measuring tibial component migration