Strategies for whole-exome sequencing analysis in a case series study of familial male infertility

Background: Infertility is one of the common health issues around the world. The prevalence of male factor infertility among infertile couples is approximately 30%- 35%, of which genetic factors account for 15%. The family-based whole-exome sequencing (WES) approach can accurately detect novel variants. However, selecting an appropriate sample for data generation using WES has proven to be challenging in familial male infertility studies. The aim of this study was to identify types of pathogenic male infertility in cases of familial asthenozoospermia. Case: Two families with multiple cases were recruited for the purpose of WES. The study population included two affected cases in pedigree I and three affected cases in pedigree II. Two different variant callers (SAMtools and GATK) with a single-sample calling strategy (SSCS) and a multiple-sample calling strategy (MSCS), were applied to identify variant sites. Conclusion: In this study, we represented the results for variant prioritization of WES data without sequencing fertile siblings in the same pedigree by applying two different pipelines (homozygosity and linkage-based strategy). Using the aforementioned strategies, we prioritized annotated variants and generated a logical shortlist of private variants for each pedigree. Key words: Male infertility, Whole-exome sequencing, GATK, SAMtools

Construction of Continuous Abstractions for Discrete-Time Time-Delay Systems

In this paper we construct continuous abstraction for discrete-time time-delay systems via the notion of so-called Razumikhin simulation functions. We show that the existence of such a function guarantees that the mismatch between the output trajectory of the concrete system and that of its abstraction lies within an appropriate bound. By transforming a system with time delay into an interconnected system without time delay, we show that the Razumikhin method is a small-gain type approach for time-delay systems and enables us to effectively manage computational complexity of constructing abstractions. We further extend our approach to compositional construction of large-scale systems containing interconnection and/or local time delays. For linear systems, we provide an algorithmic procedure for compositional construction of abstractions, which is expressed in terms of linear matrix inequalities.</p

Comparison of shear bond strength of two veneering ceramics to zirconia

Background : Chip-off fracture of veneering porcelain has been described as the most frequent reason for the failure of zirconia-based fixed partial dentures. The purpose of this study was to evaluate the shear bond strength (SBS) of two commercial zirconia core ceramics to their corresponding veneering ceramics. Materials and Methods : Zirconia disks with 7-mm diameter and 3-mm height were prepared (Cercon and Biodenta systems) and veneered with recommended layering ceramics (Cercon ceram and 2 in 1 ceramic, respectively) (n = 10). The disks were polished with diamond paste and airborne-particle abraded before layering. The specimens were mounted in a T-shaped metal holder using autopolymerized acrylic resin and stored in 37΀C distilled water for one week, after which they were subjected to thermal cycling. SBS of zirconia core to veneering ceramic was measured using a universal testing machine and failure modes were determined microscopically. Data were analyzed using t test (α < 0.05). Results : Mean (΁SD) SBS values were 27.19(΁3.43) and 28.22(΁4.08) MPa for Cercon and Biodenta systems, respectively, with no significant difference. Biodenta system showed more adhesive failure compared to more combined (adhesive and cohesive) failures in Cercon system. Conclusion: Within the limitations of this study it can be concluded that SBS of Biodenta and Cercon specimens were nearly the same, but the fracture mode of these two systems were different. Since Biodenta fracture pattern was predominantly adhesive, it seems that maybe Biodenta porcelain was stronger than Cercon porcelain where as its adhesive bond was weaker

Shear Bond Strengths and Morphological Evaluation of Filled and Unfilled Adhesive Interfaces to Enamel and Dentine

In this laboratory study shear bond strengths of three filled and one unfilled adhesive systems to enamel and dentine were compared. Forty-eight extracted intact noncarious human mandibular molars were randomly assigned to two groups of 24 one for bonding to enamel and the other for bonding to dentine. Buccal and lingual surfaces of each tooth were randomly assigned for application of each one of filled (Prime & Bond NT (PBNT), Optibond Solo Plus (OBSP), and Clearfil SE Bond (CSEB)) and unfilled (Single Bond (SB)) adhesive systems (n=12). A universal resin composite was placed into the translucent plastic cylinders (3 mm in diameter and 2 mm in length) and seated against the enamel and dentine surfaces and polymerized for 40 seconds. Shear bond strength was determined using a universal testing machine, and the results were statistically analyzed using two-way ANOVA, one-way ANOVA, t-test, and Tukey HSD post hoc test with a 5% level of significance.There were no statistically significant differences in bond strength between the adhesive systems in enamel, but CSEB and SB exhibited significantly higher and lower bond strength to dentine, respectively, than the other tested adhesive systems while there were no statistically significant differences between PBNT and OBSP

Identification of a homozygous GFPT2 variant in a family with asthenozoospermia

International audienceAsthenozoospermia (ASZ) is a condition characterized by reduced sperm motility in semen affecting approximately 19% of infertile men. Major risk factors, particularly gene mutations, still remain unknown. The main aim of the present study was to identify novel genes and mutations that may influence human sperm motility

The influence of ultrasound on removal of prefabricated metal post cemented with different resin cements

Background: Ultrasonic vibrations are used to remove a cemented post from a root canal requiring endodontic retreatment. Various results have been reported from the studies that evaluated the effect of ultrasonic instruments in removing the posts cemented with resin cements. The aim of this study was to evaluate the effect of ultrasonic energy on the retention of prefabricated metal post cemented with Panavia or Maxcem Elite cements. Materials and Methods: In this in vitro study, forty eight extracted single root premolars were decoronated with a diamond disc leaving a 13 mm long root and endodontically treated. The root canals were obturated by gutta-percha up to 5 mm with vertical condensation method and the 8 mm post-space was prepared to receive a no. 2 long Dentorama post. The roots were placed in an incubator for 48 h in 37΀C and 100% humidity. After mounting the teeth in acrylic blocks, posts were cemented in the root canals using Panavia F2.0 in 24 specimens and Maxcem Elite in 24 others. For half of the specimens in each subgroup, an ultrasonic device was applied for 4 min. Universal testing machine was used to measure the force needed to remove the posts with a crosshead speed of 1 mm/min until the post came out of the canal. Kruskal-Wallis test was used for statistical analysis at 5% level of significance. Results: The removal force was not significantly different among the groups (P > 0.05). Conclusion: Ultrasonic energy did not decrease the retention of posts cemented with Panavia or Maxcem Elite cements. Furthermore, it seems that there is no significant difference between removal force of self-etch (Panavia) and the self-etch self-adhesive (Maxcem Elite) resin cements

Strategies for Whole-exome Sequencing Analysis in A Case Series Study of Familial Male Infertility

Background: Infertility is one of the common health issues around the world. The prevalence of male factor infertility among infertile couples is approximately 30%- 35%, of which genetic factors account for 15%. The family-based whole-exome sequencing (WES) approach can accurately detect novel variants. However, selecting an appropriate sample for data generation using WES has proven to be challenging in familial male infertility studies. The aim of this study was to identify types of pathogenic male infertility in cases of familial asthenozoospermia. Case: Two families with multiple cases were recruited for the purpose of WES. The study population included two affected cases in pedigree I and three affected cases in pedigree II. Two different variant callers (SAMtools and GATK) with a single-sample calling strategy (SSCS) and a multiple-sample calling strategy (MSCS), were applied to identify variant sites. Conclusion: In this study, we represented the results for variant prioritization of WES data without sequencing fertile siblings in the same pedigree by applying two different pipelines (homozygosity and linkage-based strategy). Using the aforementioned strategies, we prioritized annotated variants and generated a logical shortlist of private variants for each pedigree. Key words: Male infertility, Whole-exome sequencing, GATK, SAMtools