scholarly journals Frequency of Sperm Aneuploidy in Oligoasthenoteratozoospermic (OAT) Patients by Comprehensive Chromosome Screening: A Proof of Concept

2020 ◽  
Author(s):  
Parishad Saei ◽  
Masood Bazrgar ◽  
Hamid Gourabi ◽  
Roxana Kariminejad ◽  
Poopak E Eftekhari-Yazdi ◽  
...  
Keyword(s):  
High Frequency ◽  
Small Sample Size ◽  
Small Sample ◽  
Comparative Genomic ◽  
Implantation Failure ◽  
Preimplantation Genetic Testing ◽  
Sperm Aneuploidy ◽  
Comprehensive Chromosome Screening ◽  
Comparison Of The Results ◽  
Sperm Population

Background: Embryonic aneuploidy usually results in implantation failure and miscarriage. Considering significantly high frequency of sperm aneuploidy reported in oligoasthenoteratozoospermia (OAT) using fluorescence in situ hybridization (FISH) in limited number of chromosomes and lack of comprehensive chromosome screening (CCS) in OAT, the aim of this study was applying CCS in OAT sperm and comparison of the results with FISH findings. Methods: Five OAT patients with normal blood karyotypes and history of implantation failure were included. The successfully amplified samples, each containing two sperm, were analyzed by array comparative genomic hybridization (aCGH). FISH was utilized mainly depending on the aneuploidies found by aCGH to assess their frequencies in total sperm population. Results: In aCGH for 30 sperm, aneuploidy was found in 66% of samples. Following the study of 4300 sperm by FISH, an average of 55.46% aneuploidy was observed. No pregnancy was resulted with normal partners. Conclusion: Using aCGH, some abnormalities were observed that are not typically considered in sperm FISH studies. Despite small sample size of the comprehensive study, like other similar studies, the frequency of aneuploidies was considerable and similar to FISH. Aneuploidies revealed by aCGH at single sperm resolution were different from sperm population detected by FISH. Considering high frequency of aneuploidy in OATs sperm, preimplantation genetic testing for aneuploidy (PGT-A) can be used for in transfer of chromosomally normal embryos.  

scholarly journals The Incidence of Mosaicism for Individual Chromosome in Human Blastocysts Is Correlated With Chromosome Length

2021 ◽  
Vol 11 ◽  
Author(s):  
Tzu-Hsuan Chuang ◽  
Ya-Ping Chang ◽  
Meng-Ju Lee ◽  
Huai-Ling Wang ◽  
Hsing-Hua Lai ◽  
...  
Keyword(s):  
Small Sample Size ◽  
Chromosome Length ◽  
Small Sample ◽  
Individual Chromosome ◽  
Preimplantation Genetic Testing ◽  
Comprehensive Chromosome Screening ◽  
Mosaic Embryo ◽  
Group A ◽  
Group B ◽  
Mosaic Aneuploidy

Mosaicism, known as partial aneuploidies, mostly originates from mitotic errors during the post-zygotic stage; it consists of different cell lineages within a human embryo. The incidence of mosaicism has not been shown to correlate with maternal age, and its correlation with individual chromosome characteristics has not been well investigated. In this study, the results of preimplantation genetic testing for aneuploidy (PGT-A) derived from 4,036 blastocysts (930 IVF couples) were collected from 2015 to 2017. Via next-generation sequencing for comprehensive chromosome screening, embryo ploidy was identified as aneuploid, mosaic, and euploid. Total mosaicism was classified into two categories: “mosaic euploid/aneuploidy” (with mosaic aneuploidy between 20 and 80%) and “mosaic and aneuploidy” (a uniformly abnormal embryo superimposed with mosaic aneuploidies). Frequency of mosaicism was analyzed according to the function of chromosomal lengths, which divides involved chromosomes into three groups: group A (156–249 Mb), group B (102–145 Mb), and group C (51–90 Mb). The results show that the aneuploidy was more frequent in group C than in group A and group B (A: 23.7%, B: 35.1, 41.2%, p < 0.0001), while the mosaicism was more frequent in group A and group B than in group C [(Mosaic euploid/aneuploid) A: 14.6%, B: 12.4%, C: 9.9%, p < 0.0001; (mosaic and aneuploid) A: 21.3%, B: 22.9%, C: 18.9%, p < 0.0001; (Total mosaicism) A: 35.9%, B: 35.3%, C: 28.8%, p < 0.0001]. The significantly higher frequency of aneuploidy was on the shorter chromosome (< 90 Mb), and that of mosaicism was on the longer chromosomes (> 100 Mb). The length association did not reach significance in the patients with advanced age (≥ 36 years), and of the chromosome-specific mosaicism rate, the highest prevalence was on chromosome 14 (5.8%), 1 (5.7%), and 9 (5.6%). Although the length association was observed via group comparison, there may be affecting mechanisms other than chromosomes length. Eventually, twenty patients with mosaic embryo cryotransfers resulted in six live births. No significant correlation was observed between the transfer outcomes and chromosome length; however, the analysis was limited by small sample size.

scholarly journals Helping babies breathe: assessing the effectiveness of simulation-based high-frequency recurring training in a community-based setting of Pakistan

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kiran Mubeen ◽  
Marina Baig ◽  
Sadia Abbas ◽  
Farzana Adnan ◽  
Arusa Lakhani ◽  
...  
Keyword(s):  
High Frequency ◽  
Repeated Measures ◽  
Small Sample Size ◽  
Scale Up ◽  
Training Session ◽  
Birth Asphyxia ◽  
Knowledge Retention ◽  
Small Sample ◽  
Helping Babies Breathe ◽  
Simulation Based

Abstract Background Birth asphyxia is one of the significant causes of neonatal deaths in Pakistan. Poor newborn resuscitation skills of birth attendants are a major cause of neonatal mortality in low resource settings across the globe. This study aimed to evaluate the effectiveness of the Simulation-Based High-Frequency training of the Helping Babies Breathe for Community Midwives (CMW), in district Gujrat, Pakistan. Method A pre-post-test interventional study design was used. The universal sampling technique was employed to recruit 50 deployed CMWs in the entire district of Gujrat. The pre-tested module and tools of Helping Babies Breathe (2nd edition) were used in the intervention. Using the High Frequency training approach, three one-day training sessions were conducted for CMWs at an interval of 2 months. During the 2 months interval, participants were monitored and supported to practice their skills at their birthing centers. Knowledge and skills were assessed before and after each session. The McNemar and Cochran’s Q tests were applied for data analysis. Participants’ feedback was also obtained at the end of each training, which was analyzed through descriptive statistics. Results Data from 34 CMWs were analyzed as they completed all three training sessions and assessments. The results were statistically different after each training session for OSCE B (p-value < 0.05). However, for knowledge and OSCE A, significant improvement was observed after training sessions 1 and 2 only. Pairwise comparison showed that pre-assessment at training 1 was significantly different from most of the repeated measures of knowledge, OSCE A, and OSCE B. Moreover, the learners appreciated the overall training in terms of organization, content, material, assessment, and overall competency. Additionally, due to a small sample size of the CMWs, and a short time of the intervention, significant differences in morbidity and mortality outcomes could not be detected. Conclusion The study concluded that a series of training and continuous supportive supervision and facilitation enhances Helping Babies Breathe (HBB) knowledge retention and skills. The study recommends, periodic, structured and precise HBB trainings, with ongoing quality monitoring activities through blended learning modalities would help sustain and scale-up the intervention.

scholarly journals Blastocoel Fluid Biopsy

2019 ◽  
Vol 01 (01) ◽  
pp. 17-20
Author(s):  
Luca Gianaroli ◽  
Cristina Albanese ◽  
Carla Tabanelli ◽  
Andor Crippa ◽  
Maria Cristina Magli
Keyword(s):  
Genetic Testing ◽  
Reproductive Medicine ◽  
Chromosomal Abnormalities ◽  
Invasive Technique ◽  
Implantation Failure ◽  
Genomic Amplification ◽  
Preimplantation Genetic Testing ◽  
Developmental Potential ◽  
Valuable Source ◽  
Comprehensive Chromosome Screening

The identification of viable embryos for transfer is one of the main challenges in reproductive medicine. As chromosomal abnormalities are the major cause of implantation failure, preimplantation genetic testing of aneuploidy plays an important role in embryo selection. To make this approach more efficient, the possibility to retrieve informative DNA through a moderately invasive technique compared to the traditional forms of biopsy is appealing. Blastocoelic fluid is a valuable source of DNA. Its presence, as detected by whole genomic amplification, and the following analysis by comprehensive chromosome screening could add important information on the blastocyst ploidy condition and developmental potential.

scholarly journals Brain and Physiological Markers of Autonomic Function Are Associated With Treatment-Related Improvements in Self-Reported Autonomic Dysfunction in Veterans With Gulf War Illness: An Exploratory Pilot Study

2020 ◽  
Vol 9 ◽  
pp. 216495612092281 ◽  
Author(s):  
Danielle C Mathersul ◽  
Carla M Eising ◽  
Danielle D DeSouza ◽  
David Spiegel ◽  
Peter J Bayley
Keyword(s):  
Heart Rate ◽  
High Frequency ◽  
Behavioral Therapy ◽  
Small Sample Size ◽  
Controlled Trial ◽  
Low Frequency ◽  
Physical Symptoms ◽  
Gulf War ◽  
Small Sample ◽  
Gulf War Illness

Background Gulf War Illness (GWI) is a poorly understood condition characterized by a constellation of mood, cognitive, and physical symptoms. A growing body of evidence demonstrates autonomic nervous system (ANS) dysfunction. Few published treatment studies exist for GWI. Method We recently completed a randomized controlled trial comparing a 10-week group yoga intervention to 10-week group cognitive behavioral therapy (CBT) for veterans with GWI. Here, we present exploratory data on ANS biomarkers of treatment response from a small pilot exploratory neurophysiological add-on study (n = 13) within that larger study. Results Findings suggest that veterans with GWI receiving either yoga or CBT for pain improved following treatment and that changes in biological ANS—especially for the yoga group—moved in the direction of healthy profiles: lower heart rate, higher square root of the mean squared differences between successive R-R intervals (RMSSD), greater parasympathetic activation/dominance (increased high-frequency heart rate variability [HF-HRV], decreased low-frequency/high-frequency [LF/HF] ratio), reduced right amygdala volume, and stronger amygdala-default mode/amygdala-salience network connectivity, both immediately posttreatment and at 6-month follow-up. Biological mechanisms of CBT appeared to underlie improvements in more psychologically loaded symptoms such as self-reported fatigue and energy. Higher tonic arousal and/or more sympathetic dominance (higher skin conductance, lower RMSSD, lower HF-HRV, higher LF/HF ratio) pretreatment predicted greater treatment-related improvements in self-reported ANS for both the yoga and CBT group. Conclusion These exploratory pilot data provide preliminary support for the suggestion that treatment (yoga, CBT) is associated with improvements in both biological and self-reported ANS dysfunctions in GWI. The major limitation for these findings is the small sample size. Larger and more controlled studies are needed to replicate these findings and directly compare biomarkers of yoga versus CBT.

Probing the ultrastructure of the mitotic and meiotic spindle in eggs: An expeditious approach based on semi-thin (0.25 μm) serial sections

1983 ◽  
Vol 41 ◽  
pp. 552-555
Author(s):  
Conly L. Rieder ◽  
S. Bowser ◽  
R. Nowogrodzki ◽  
K. Ross ◽  
G. Sluder
Keyword(s):  
Small Sample Size ◽  
Small Sample ◽  
Meiotic Spindle ◽  
Serial Sections ◽  
Mitotic Apparatus ◽  
Thin Sections ◽  
Cell Cycles ◽  
Ultrastructural Studies

Eggs have long been a favorite material for studying the mechanism of karyokinesis in-vivo and in-vitro. They can be obtained in great numbers and, when fertilized, divide synchronously over many cell cycles. However, they are not considered to be a practical system for ultrastructural studies on the mitotic apparatus (MA) for several reasons, the most obvious of which is that sectioning them is a formidable task: over 1000 ultra-thin sections need to be cut from a single 80-100 μm diameter egg and of these sections only a small percentage will contain the area or structure of interest. Thus it is difficult and time consuming to obtain reliable ultrastructural data concerning the MA of eggs; and when it is obtained it is necessarily based on a small sample size.We have recently developed a procedure which will facilitate many studies concerned with the ultrastructure of the MA in eggs. It is based on the availability of biological HVEM's and on the observation that 0.25 μm thick serial sections can be screened at high resolution for content (after mounting on slot grids and staining with uranyl and lead) by phase contrast light microscopy (LM; Figs 1-2).

Validating the Factor Structure of the Stigma of Suicide Scale–Short Form Spanish Version Among Healthcare Students

Crisis ◽  
2020 ◽  
pp. 1-5
Author(s):  
Ruthmarie Hernández-Torres ◽  
Paola Carminelli-Corretjer ◽  
Nelmit Tollinchi-Natali ◽  
Ernesto Rosario-Hernández ◽  
Yovanska Duarté-Vélez ◽  
...  
Keyword(s):  
Factor Structure ◽  
Structural Equation ◽  
Short Form ◽  
Small Sample Size ◽  
Small Sample ◽  
Spanish Version ◽  
Equation Modeling ◽  
Cross Sectional ◽  
Healthcare Students ◽  
Spanish Speaking

Abstract. Background: Suicide is a leading cause of death among Spanish-speaking individuals. Suicide stigma can be a risk factor for suicide. A widely used measure is the Stigma of Suicide Scale-Short Form (SOSS-SF; Batterham, Calear, & Christensen, 2013 ). Although the SOSS-SF has established psychometric properties and factor structure in other languages and cultural contexts, no evidence is available from Spanish-speaking populations. Aim: This study aims to validate a Spanish translation of the SOSS-SF among a sample of Spanish-speaking healthcare students ( N = 277). Method: We implemented a cross-sectional design with quantitative techniques. Results: Following a structural equation modeling approach, a confirmatory factor analysis (CFA) supported the three-factor model proposed by Batterham and colleagues (2013) . Limitations: The study was limited by the small sample size and recruitment by availability. Conclusion: Findings suggest that the Spanish version of the SOSS-SF is a valid and reliable tool with which to examine suicide stigma among Spanish-speaking populations.

An Initial Investigation of Suicide Attempt Disclosures Among US Veterans

Crisis ◽  
2020 ◽  
pp. 1-7
Author(s):  
Brooke A. Ammerman ◽  
Sarah P. Carter ◽  
Heather M. Gebhardt ◽  
Jonathan Buchholz ◽  
Mark A. Reger
Keyword(s):  
Suicide Attempt ◽  
Mental Health Professionals ◽  
Help Seeking ◽  
Psychiatric Treatment ◽  
Small Sample Size ◽  
Romantic Partners ◽  
Small Sample ◽  
Professional Care ◽  
Patient Disclosure ◽  
Previous Suicide Attempt

Abstract. Background: Patient disclosure of prior suicidal behaviors is critical for effectively managing suicide risk; however, many attempts go undisclosed. Aims: The current study explored how responses following a suicide attempt disclosure may relate to help-seeking outcomes. Method: Participants included 37 veterans with a previous suicide attempt receiving inpatient psychiatric treatment. Veterans reported on their most and least helpful experiences disclosing their suicide attempt to others. Results: Veterans disclosed their suicide attempt to approximately eight individuals. Mental health professionals were the most cited recipient of their most helpful disclosure; romantic partners were the most common recipient of their least helpful disclosures. Positive reactions within the context of the least helpful disclosure experience were positively associated with a sense of connection with the disclosure recipient. Positive reactions within the most helpful disclosure experience were positively associated with the likelihood of future disclosure. No reactions were associated with having sought professional care or likelihood of seeking professional care. Limitations: The results are considered preliminary due to the small sample size. Conclusion: Findings suggest that while positive reactions may influence suicide attempt disclosure experiences broadly, additional research is needed to clarify factors that drive the decision to disclose a suicide attempt to a professional.

Investigating the Dynamics of Suicidal Ideation

Crisis ◽  
2018 ◽  
Vol 39 (1) ◽  
pp. 65-69 ◽  
Author(s):  
Nina Hallensleben ◽  
Lena Spangenberg ◽  
Thomas Forkmann ◽  
Dajana Rath ◽  
Ulrich Hegerl ◽  
...  
Keyword(s):  
Suicidal Ideation ◽  
Small Sample Size ◽  
Unipolar Depression ◽  
Small Sample ◽  
History Of ◽  
Severity Of Depression ◽  
Ecological Momentary ◽  
Depressive Episodes ◽  
Ema Method ◽  
Shed Light

Abstract. Background: Although the fluctuating nature of suicidal ideation (SI) has been described previously, longitudinal studies investigating the dynamics of SI are scarce. Aim: To demonstrate the fluctuation of SI across 6 days and up to 60 measurement points using smartphone-based ecological momentary assessments (EMA). Method: Twenty inpatients with unipolar depression and current and/or lifetime suicidal ideation rated their momentary SI 10 times per day over a 6-day period. Mean squared successive difference (MSSD) was calculated as a measure of variability. Correlations of MSSD with severity of depression, number of previous depressive episodes, and history of suicidal behavior were examined. Results: Individual trajectories of SI are shown to illustrate fluctuation. MSSD values ranged from 0.2 to 21.7. No significant correlations of MSSD with several clinical parameters were found, but there are hints of associations between fluctuation of SI and severity of depression and suicidality. Limitations: Main limitation of this study is the small sample size leading to low power and probably missing potential effects. Further research with larger samples is necessary to shed light on the dynamics of SI. Conclusion: The results illustrate the dynamic nature and the diversity of trajectories of SI across 6 days in psychiatric inpatients with unipolar depression. Prediction of the fluctuation of SI might be of high clinical relevance. Further research using EMA and sophisticated analyses with larger samples is necessary to shed light on the dynamics of SI.

Participant Reactions to Suicide-Focused Research

Crisis ◽  
2020 ◽  
Vol 41 (5) ◽  
pp. 367-374
Author(s):  
Sarah P. Carter ◽  
Brooke A. Ammerman ◽  
Heather M. Gebhardt ◽  
Jonathan Buchholz ◽  
Mark A. Reger
Keyword(s):  
Medical Records ◽  
Research Study ◽  
Small Sample Size ◽  
Psychiatric Inpatient ◽  
Small Sample ◽  
Inpatient Unit ◽  
Online Laboratory ◽  
Psychiatric Inpatient Unit ◽  
Before And After ◽  
Participant Reactions

Abstract. Background: Concerns exist regarding the perceived risks of conducting suicide-focused research among an acutely distressed population. Aims: The current study assessed changes in participant distress before and after participation in a suicide-focused research study conducted on a psychiatric inpatient unit. Method: Participants included 37 veterans who were receiving treatment on a psychiatric inpatient unit and completed a survey-based research study focused on suicide-related behaviors and experiences. Results: Participants reported no significant changes in self-reported distress. The majority of participants reported unchanged or decreased distress. Reviews of electronic medical records revealed no behavioral dysregulation and minimal use of as-needed medications or changes in mood following participation. Limitations: The study's small sample size and veteran population may limit generalizability. Conclusion: Findings add to research conducted across a variety of settings (i.e., outpatient, online, laboratory), indicating that participating in suicide-focused research is not significantly associated with increased distress or suicide risk.

Measurements method of the audio recordings acoustic quality indicator prepared for registration and processing in the Unified Biometric System

2019 ◽  
pp. 40-46 ◽  
Author(s):  
V.V. Savchenko ◽  
A.V. Savchenko
Keyword(s):  
Quality Control ◽  
Small Sample Size ◽  
Personal Data ◽  
Digital Processing ◽  
Small Sample ◽  
Practical Implementation ◽  
Acoustic Measurements ◽  
Pitch Frequency ◽  
Wide Range ◽  
Automated Quality Control

We consider the task of automated quality control of sound recordings containing voice samples of individuals. It is shown that in this task the most acute is the small sample size. In order to overcome this problem, we propose the novel method of acoustic measurements based on relative stability of the pitch frequency within a voice sample of short duration. An example of its practical implementation using aninter-periodic accumulation of a speech signal is considered. An experimental study with specially developed software provides statistical estimates of the effectiveness of the proposed method in noisy environments. It is shown that this method rejects the audio recording as unsuitable for a voice biometric identification with a probability of 0,95 or more for a signal to noise ratio below 15 dB. The obtained results are intended for use in the development of new and modifying existing systems of collecting and automated quality control of biometric personal data. The article is intended for a wide range of specialists in the field of acoustic measurements and digital processing of speech signals, as well as for practitioners who organize the work of authorized organizations in preparing for registration samples of biometric personal data.

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