scholarly journals Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population

2009 ◽  
Vol 27 (6) ◽  
pp. 279-285 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
Margareta Mikkelsen ◽  
Aglaia Giannoulia-Karantana ◽  
Michael B. Petersen
Keyword(s):  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Small Sample Size ◽  
Small Sample ◽  
Chromosome 21 ◽  
Danish Population ◽  
Maternal Risk ◽  
The Common ◽  
Or Gene ◽  
The Impact

Chromosomal aneuploidy consists the leading cause of fetal death in our species. Around 50% of spontaneous abortions until 15 weeks of gestational age are chromosomally aneuploid, with trisomies accounting for 50% of the abnormal abortions. Trisomy 21 is the most common chromosome abnormality in liveborns and is usually the result of nondisjunction of chromosome 21 in meiosis in either oogenesis or spermatogenesis. To investigate the relationship between folate metabolism and Down syndrome (DS) in a Danish population, we analyzed the common 677C>T genetic polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene. Our cohort consisted of 181 mothers of children with DS versus 1,084 healthy controls. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to examine theMTHFR677C>T polymorphism. No significant association between the polymorphism and the risk for DS was found. We conclude that the commonMTHFR677C>T polymorphism is not likely to be a maternal risk factor for DS in our cohort and that the difference to previous studies can probably be explained by small sample size or geographic variation in gene polymorphisms involving gene-nutritional or gene-gene or gene-nutritional-environmental factors.

scholarly journals Maternal Risk for Down Syndrome Is Modulated by Genes Involved in Folate Metabolism

2012 ◽  
Vol 32 (2) ◽  
pp. 73-81 ◽  
Author(s):  
Bruna Lancia Zampieri ◽  
Joice Matos Biselli ◽  
Eny Maria Goloni-Bertollo ◽  
Hélio Vannucchi ◽  
Valdemir Melechco Carvalho ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Methylmalonic Acid ◽  
Folate Metabolism ◽  
Serum Folate ◽  
Vitamin B ◽  
Maternal Risk ◽  
Solute Carrier ◽  
The Impact ◽  
Homocysteine Methyltransferase

Studies have shown that the maternal risk for Down syndrome (DS) may be modulated by alterations in folate metabolism. The aim of this study was to evaluate the influence of 12 genetic polymorphisms involved in folate metabolism on maternal risk for DS. In addition, we evaluated the impact of these polymorphisms on serum folate and plasma methylmalonic acid (MMA, an indicator of vitamin B12status) concentrations. The polymorphismstranscobalamin II (TCN2)c.776C>G,betaine-homocysteine S-methyltransferase (BHMT)c.742A>G,methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR)c.677 C>T and theMTHFR677C-1298A-1317T haplotype modulate DS risk. The polymorphismsMTHFRc.677C>T and solute carrier family19 (folate transporter), member 1 (SLC19A1)c.80 A>G modulate folate concentrations, whereas the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) c.66A>G polymorphism affects the MMA concentration. These results are consistent with the modulation of the maternal risk for DS by these polymorphisms.

An influence of social isolation on the level of physical activity as well as on well-being and mental state of people during the coronavirus COVID-19 pandemic

2019 ◽  
Vol 129 (4) ◽  
pp. 127-131
Author(s):  
Agnieszka Parfin ◽  
Krystian Wdowiak ◽  
Marzena Furtak-Niczyporuk ◽  
Jolanta Herda
Keyword(s):  
Physical Activity ◽  
Social Isolation ◽  
Small Sample Size ◽  
Statistical Tests ◽  
Population Group ◽  
Well Being ◽  
Small Sample ◽  
Subjective Well Being ◽  
Tract Infections ◽  
The Impact

AbstractIntroduction. The COVID-19 is the name of an infectious disease caused by a new strain of coronavirus SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2). It was first diagnosed in December 2019 in patients in Wuhan City, Hubei Province, China. The symptoms are dominated by features of respiratory tract infections, in some patients with a very severe course leading to respiratory failure and, in extreme cases to death. Due to the spread of the infection worldwide, the WHO declared a pandemic in March 2020.Aim. An investigation of the impact of social isolation introduced due to the coronavirus pandemic on selected aspects of life. The researchers focused on observing changes in habits related to physical activity and their connections with people’s subjective well-being and emotional state.Material and methods. The study was carried out within the international project of the group „IRG on COVID and exercise”. The research tool was a standardized questionnaire.Results. Based on the data collected and the analysis of the percentage results, it can be observed that the overwhelming majority of people taking up physical activity reported a better mood during the pandemic. However, statistical tests do not confirm these relationships due to the small sample size.Conclusions. Isolation favours physical activity. Future, in-depth studies, by enlarging the population group, are necessary to confirm the above observations.

scholarly journals The Role of Dopamine Receptor D2 in Bridging the Intention-Behavior Gap in Sport Participation

2021 ◽  
Vol 18 (5) ◽  
pp. 2379
Author(s):  
Seiyeong Park ◽  
Junhye Kwon ◽  
Chiyoung Ahn ◽  
Hae-Sung Cho ◽  
Hyo Youl Moon ◽  
...  
Keyword(s):  
University Students ◽  
Dopamine Receptor ◽  
Sport Participation ◽  
Small Sample Size ◽  
Behavioral Model ◽  
Small Sample ◽  
Male Students ◽  
Future Research ◽  
Dopamine Receptor D2 ◽  
The Impact

Previous studies have identified that a behavior can occur through the strongest predictor intention, but there is a gap between intention and behavior. Dopamine receptor D2 (DRD2) is known to account for a variance in sporting behaviors in human and animal subjects. However, the relationship between DRD2 and sport participation has been poorly studied, and the limited available reports are inconsistent. The present study was performed to examine the impact of DRD2 on sport participation among Korean university students based on the integrated behavioral model (IBM). Data were collected from enrolled university students in Seoul (N = 45). Participants answered survey questions first, and then they gave investigators their hair to provide DNA information (i.e., the A1 allele of DRD2). DRD2 had a significant effect on sport participation, but only in male students. Male students who carried the A1 allele of DRD2 significantly participated in 105.10 min more sporting activities than male students who did not. Moreover, the effect of intention on sport participation was significantly decreased when considering DRD2. Despite the small sample size, the results of this study could be a preliminary case for a larger study and indicate the direction of future research. Our results suggest that DRD2 may have played an important role as the “actual skill” shown in the IBM.

scholarly journals Viscoelastometric Testing to Assess Hemostasis of COVID-19: A Systematic Review

2021 ◽  
Vol 10 (8) ◽  
pp. 1740
Author(s):  
Marion Bareille ◽  
Michaël Hardy ◽  
Jonathan Douxfils ◽  
Stéphanie Roullet ◽  
Dominique Lasne ◽  
...  
Keyword(s):  
Systematic Review ◽  
Mechanical Strength ◽  
Small Sample ◽  
The Common ◽  
Small Sample Sizes ◽  
Definition Of ◽  
Reported Data ◽  
Prophylactic Anticoagulation ◽  
The Impact ◽  
Heparin Neutralization

Infection by SARS-CoV-2 is associated with a high risk of thrombosis. The laboratory documentation of hypercoagulability and impaired fibrinolysis remains a challenge. Our aim was to assess the potential usefulness of viscoelastometric testing (VET) to predict thrombotic events in COVID-19 patients according to the literature. We also (i) analyzed the impact of anticoagulation and the methods used to neutralize heparin, (ii) analyzed whether maximal clot mechanical strength brings more information than Clauss fibrinogen, and (iii) critically scrutinized the diagnosis of hypofibrinolysis. We performed a systematic search in PubMed and Scopus databases until December 31st, 2020. VET methods and parameters, and patients’ features and outcomes were extracted. VET was performed for 1063 patients (893 intensive care unit (ICU) and 170 non-ICU, 44 studies). There was extensive heterogeneity concerning study design, VET device used (ROTEM, TEG, Quantra and ClotPro) and reagents (with non-systematic use of heparin neutralization), timing of assay, and definition of hypercoagulable state. Notably, only 4 out of 25 studies using ROTEM reported data with heparinase (HEPTEM). The common findings were increased clot mechanical strength mainly due to excessive fibrinogen component and impaired to absent fibrinolysis, more conspicuous in the presence of an added plasminogen activator. Only 4 studies out of the 16 that addressed the point found an association of VETs with thrombotic events. So-called functional fibrinogen assessed by VETs showed a variable correlation with Clauss fibrinogen. Abnormal VET pattern, often evidenced despite standard prophylactic anticoagulation, tended to normalize after increased dosing. VET studies reported heterogeneity, and small sample sizes do not support an association between the poorly defined prothrombotic phenotype of COVID-19 and thrombotic events.

Nipple Confusion

PEDIATRICS ◽  
1993 ◽  
Vol 92 (2) ◽  
pp. 300-301
Author(s):  
DOREN FREDRICKSON
Keyword(s):  
Breast Feeding ◽  
Statistical Power ◽  
White Women ◽  
Small Sample Size ◽  
False Negative ◽  
Small Sample ◽  
Bottle Feeding ◽  
Feeding Duration ◽  
Breast Feed ◽  
The Impact

To the Editor.— I wish to comment on the study reported by Cronenwett et al,1 which was a fascinating prospective study among married white women who planned to breast-feed. Women were randomly selected to perform either exdusive breast-feeding or partial breast-feeding with bottled human milk supplements to determine the impact of infant temperament and limited bottle-feeding on breast-feeding duration. The authors admit that small sample size and lack of statistical power make a false-negative possible.

The impact of vestibular symptoms and electronystagmography results on recovery from sudden sensorineural hearing loss

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Gaelle Vofo ◽  
Marrigje Aagje de Jong ◽  
Michal Kaufman ◽  
Julia Meyler ◽  
Ron Eliashar ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Small Sample Size ◽  
Small Sample ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Caloric Test ◽  
Routine Identification ◽  
The Impact ◽  
Caloric Tests

Abstract Objectives Idiopathic sudden sensorineural hearing loss (SSNHL) represents a frequently encountered otological entity, of various types and severity, with an array of associated symptoms including vertigo. This is a devastating life-changing condition with a blurry prognosis. The objective of this study was to determine the clinical association of vestibular impairment by electronystagmography (ENG) and caloric tests, and their ability to predict prognosis. Methods An observational, crossectional study was carried out amongst patients admitted with SSNHL. Each consenting patient had an audiometry test performed on admission as well as ENG and caloric tests. Treatment included oral steroids and carbogen with intratympanic steroids used only as salvage treatment. Follow-up was completed after 6 months when hearing gains were evaluated. Finally, an association was sought between the rate of recovery and ENG and caloric test results. Results Of 35 patients included, marked recovery was seen in patients without vertigo when compared to those with vertigo (p=0.003). A statistically significant association was found between the presence of vertigo and hearing deterioration (p=0.008). More so, normal electronystagmography results were associated with marked recovery (p=0.04). Conclusions The vestibular end organs are both subjectively and objectively affected in SSNHL as demonstrated by the abnormal ENG and caloric tests in our study despite the small sample size. Concomitant vestibular involvement carries poorer prognosis and routine identification may help foresee the recovery of patients with SSNHL and as such, aid in patient counseling. ENG and caloric tests are easily available and may be recommended for all patients with SSNHL.

CEOs’ accounting-based attributes and earnings management strategies under mandatory IFRS adoption

2018 ◽  
Vol 19 (4) ◽  
pp. 608-625 ◽  
Author(s):  
Amel Kouaib ◽  
Anis Jarboui ◽  
Khaireddine Mouakhar
Keyword(s):  
Earnings Management ◽  
Small Sample Size ◽  
Small Sample ◽  
Moderating Effect ◽  
Audit Committees ◽  
Content Type ◽  
Ifrs Adoption ◽  
Experience Education ◽  
The Impact ◽  
The Relationship

Purpose The purpose of this paper is to focus on the moderating effect of mandatory International Financial Reporting Standards (IFRS) adoption on the relationship between chief executive officer (CEO) experience/education and earnings management in European companies. Design/methodology/approach Data from a sample of 302 European firms listed on Stoxx Europe 600 index and 596 CEOs from 2000 to 2014 are used to test the moderation model using moderation regression analysis. Findings Evidence reveals that CEO’s accounting-based attributes are negatively associated with accruals-based earnings management and positively associated with real earnings management (REM). Further, mandatory IFRS adoption significantly moderates the impact of CEO’s accounting-based traits on earnings-management activities. Research limitations/implications A small number of European firms were studied and, given the long study period, many firms with missing data were eliminated. To avoid a small sample size, countries with few observations were included, which leads to an uneven distribution between observations per country. Practical implications Findings from this paper can help: European firms to consider demographic traits when recruiting or promoting executives; the IASB to improve enforcement mechanisms and make IFRS implementation mandatory; and audit committees to effectively monitor REM. Originality/value This study is unique in providing European evidence for the moderating effect of mandatory IFRS adoption on the relationship between CEOs’ accounting experience/education and earnings management activities. This paper is also relevant as it addresses the effectiveness and efficiency of accounting literates.

scholarly journals Congenital Micropenis: Aetiology And Management

2021 ◽  
Author(s):  
Marianna Rita Stancampiano ◽  
Kentaro Suzuki ◽  
Stuart O’Toole ◽  
Gianni Russo ◽  
Gen Yamada ◽  
...  
Keyword(s):  
Racial Differences ◽  
Small Sample Size ◽  
Small Sample ◽  
Long Term Outcomes ◽  
Penile Length ◽  
Appearance Quality ◽  
Wide Range ◽  
The Impact

Abstract In the newborn, penile length is determined by a number of androgen dependent and independent factors. The current literature suggests that there are inter-racial differences in stretched penile length in the newborn and although congenital micropenis should be defined as a stretched penile length of less than 2.5SDS of the mean for the corresponding population and gestation, a pragmatic approach would be to evaluate all boys with a stretched penile length below 2 cm, as congenital micropenis can be a marker for a wide range of endocrine conditions. However, it remains unclear as to whether the state of micropenis, itself, is associated with any long-term consequences. There is a lack of systematic studies comparing the impact of different therapeutic options on long-term outcomes, in terms of genital appearance, quality of life and sexual satisfaction. To date, research has been hampered by a small sample size and inclusion of a wide range of heterogeneous diagnoses; for these reasons, condition specific outcomes have been difficult to compare between studies. Lastly, there is a need for a greater collaborative effort in collecting standardized data so that all real-world or experimental interventions performed at an early age can be studied systematically into adulthood.

scholarly journals Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome

2021 ◽  
Vol 17 (9) ◽  
pp. e1009317
Author(s):  
Ilario De Toma ◽  
Cesar Sierra ◽  
Mara Dierssen
Keyword(s):  
Down Syndrome ◽  
Differential Expression ◽  
Web Application ◽  
Meta Analysis ◽  
Chromosome 21 ◽  
Complex Disorders ◽  
Transcriptomic Data ◽  
Genome Wide ◽  
A Genome ◽  
The Impact

Trisomy of human chromosome 21 (HSA21) causes Down syndrome (DS). The trisomy does not simply result in the upregulation of HSA21--encoded genes but also leads to a genome-wide transcriptomic deregulation, which affect differently each tissue and cell type as a result of epigenetic mechanisms and protein-protein interactions. We performed a meta-analysis integrating the differential expression (DE) analyses of all publicly available transcriptomic datasets, both in human and mouse, comparing trisomic and euploid transcriptomes from different sources. We integrated all these data in a “DS network”. We found that genome wide deregulation as a consequence of trisomy 21 is not arbitrary, but involves deregulation of specific molecular cascades in which both HSA21 genes and HSA21 interactors are more consistently deregulated compared to other genes. In fact, gene deregulation happens in “clusters”, so that groups from 2 to 13 genes are found consistently deregulated. Most of these events of “co-deregulation” involve genes belonging to the same GO category, and genes associated with the same disease class. The most consistent changes are enriched in interferon related categories and neutrophil activation, reinforcing the concept that DS is an inflammatory disease. Our results also suggest that the impact of the trisomy might diverge in each tissue due to the different gene set deregulation, even though the triplicated genes are the same. Our original method to integrate transcriptomic data confirmed not only the importance of known genes, such as SOD1, but also detected new ones that could be extremely useful for generating or confirming hypotheses and supporting new putative therapeutic candidates. We created “metaDEA” an R package that uses our method to integrate every kind of transcriptomic data and therefore could be used with other complex disorders, such as cancer. We also created a user-friendly web application to query Ensembl gene IDs and retrieve all the information of their differential expression across the datasets.

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