Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges

This study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with familial non-syndromic childhood hearing impairment (HI) in Cameroon. We selected only families segregating HI, with at least two affected individuals and with strong evidence of non-environmental causes. DNA was extracted from peripheral blood, and the entire coding region of GJB2 was interrogated using Sanger sequencing. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of the GJB6-D3S1830 deletion. A total of 93 patients, belonging to 41 families, were included in the analysis. Hearing impairment was sensorineural in 51 out of 54 (94.4%) patients. Pedigree analysis suggested autosomal recessive inheritance in 85.4% (35/41) of families. Hearing impairment was inherited in an autosomal dominant and mitochondrial mode in 12.2% (5/41) and 2.4% (1/41) of families, respectively. Most HI participants were non-syndromic (92.5%; 86/93). Four patients from two families presented with type 2 Waardenburg syndrome, and three cases of type 2 Usher syndrome were identified in one family. No GJB2 mutations were found in any of the 29 families with non-syndromic HI. Additionally, the GJB6-D3S1830 deletion was not identified in any of the HI patients. This study confirms that mutations in the GJB2 gene and the del(GJB6-D13S1830) mutation do not contribute to familial HI in Cameroon.

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The Ego Could Be Depleted, Providing Initial Exertion Is Depleting

Social Psychology ◽

10.1027/1864-9335/a000308 ◽

2017 ◽

Vol 48 (4) ◽

pp. 242-245 ◽

Cited By ~ 24

Author(s):

Junhua Dang ◽

Ying Liu ◽

Xiaoping Liu ◽

Lihua Mao

Keyword(s):

Stroop Task ◽

Meta Analysis ◽

Ego Depletion ◽

Current Experiment ◽

The Past ◽

Depletion Effect

Abstract. The ego depletion effect has been examined by over 300 independent studies during the past two decades. Despite its pervasive influence, recently this effect has been severely challenged and asserted to be a fake. Based on an up-to-date meta-analysis that examined the effectiveness of each frequently used depleting task, we preregistered the current experiment with the aim to examine whether there would be an ego depletion effect when the Stroop task is used as the depleting task. The results demonstrated a significant ego depletion effect. The current research highlights the importance of the depleting task’s effectiveness. That is to say, the “ego” could be “depleted,” but only when initial exertion is “depleting.”

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Does Neonatal Imitation Exist? Insights From a Meta-Analysis of 336 Effect Sizes

Perspectives on Psychological Science ◽

10.1177/1745691620959834 ◽

2021 ◽

pp. 174569162095983

Author(s):

Jacqueline Davis ◽

Jonathan Redshaw ◽

Thomas Suddendorf ◽

Mark Nielsen ◽

Siobhan Kennedy-Costantini ◽

...

Keyword(s):

Social Behavior ◽

Positive Result ◽

Human Development ◽

Degrees Of Freedom ◽

Meta Analysis ◽

Effect Sizes ◽

Significant Evidence ◽

The Past ◽

Substantial Heterogeneity

Neonatal imitation is a cornerstone in many theoretical accounts of human development and social behavior, yet its existence has been debated for the past 40 years. To examine possible explanations for the inconsistent findings in this body of research, we conducted a multilevel meta-analysis synthesizing 336 effect sizes from 33 independent samples of human newborns, reported in 26 articles. The meta-analysis found significant evidence for neonatal imitation ( d = 0.68, 95% CI = [0.39, 0.96], p < .001) but substantial heterogeneity between study estimates. This heterogeneity was not explained by any of 13 methodological moderators identified by previous reviews, but it was associated with researcher affiliation, test of moderators ( QM) (15) = 57.09, p < .001. There are at least two possible explanations for these results: (a) Neonatal imitation exists and its detection varies as a function of uncaptured methodological factors common to a limited set of studies, and (2) neonatal imitation does not exist and the overall positive result is an artifact of high researcher degrees of freedom.

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165 A Review of The Current Literature on LMWH Administered at Different Times in Relation to MOS (Major Orthopaedic Surgery): Assessment of The Safety and Efficacy of The Different Proposed Strategies

British Journal of Surgery ◽

10.1093/bjs/znab134.190 ◽

2021 ◽

Vol 108 (Supplement_2) ◽

Author(s):

G Placella ◽

V Pace ◽

P Antinolfi ◽

V Salini

Keyword(s):

Meta Analysis ◽

Convincing Evidence ◽

Just In Time ◽

Medical Complications ◽

Randomized Controlled ◽

The Past ◽

Cochrane Database ◽

Major Orthopedic Surgery ◽

Major Orthopaedic Surgery ◽

The One

Abstract Nowadays venous VTE represents an important perioperative and postoperative complication in patients undergoing elective Major Orthopedic Surgery (MOS). There are significant discrepancies between clinical practice, international recommendations, and published guidelines. Although thromboembolic events may be less common these days than in the past, they can still lead to serious medical complications. Therefore, most patients undergoing MOS procedures are provided with one of the thromboprophylactic treatments. The optimum timing of LMWH administrations remains debated. Customized structured electronic searches in PubMed and Cochrane database. Meta-Analysis, Randomized Controlled Trials, Systematic Reviews on different strategies of the use of LMWH for MOS. Studies on prophylactic regimens showed that subcutaneous LMWH plays a key role in the management of thromboprophylaxis in MOS. However, some controversies still stand. Among those most relevant, it remains unclear whether to start thromboprophylaxis before or after MOS to better balance the risks of clotting and bleeding. With regards to different times of LMWH administration, there is no convincing evidence that starting prophylaxis 12 hours preoperatively is associated with lower risks of VTE compared to prophylaxis started 12 to 24 hours postoperatively. Furthermore, it seems that the most safe and efficient LMWH regimen is the one called “Just-in-time” (LMWH started 6 hours post-op).

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Against the Resilience of High-Grade Gliomas: The Immunotherapeutic Approach (Part I)

Brain Sciences ◽

10.3390/brainsci11030386 ◽

2021 ◽

Vol 11 (3) ◽

pp. 386

Author(s):

Alice Giotta Lucifero ◽

Sabino Luzzi

Keyword(s):

Monoclonal Antibodies ◽

Natural Killer ◽

Immune Escape ◽

Meta Analysis ◽

Treatment Options ◽

High Grade Glioma ◽

High Grade ◽

Future Challenges ◽

Genetic Landscape ◽

High Grade Gliomas

The resilience of high-grade gliomas (HGGs) against conventional chemotherapies is due to their heterogeneous genetic landscape, adaptive phenotypic changes, and immune escape mechanisms. Innovative immunotherapies have been developed to counteract the immunosuppressive capability of gliomas. Nevertheless, further research is needed to assess the efficacy of the immuno-based approach. The aim of this study is to review the newest immunotherapeutic approaches for glioma, focusing on the drug types, mechanisms of action, clinical pieces of evidence, and future challenges. A PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis)-based literature search was performed on PubMed/Medline and ClinicalTrials.gov databases using the keywords “active/adoptive immunotherapy,” “monoclonal antibodies,” “vaccine,” and “engineered T cell.”, combined with “malignant brain tumor”, “high-grade glioma.” Only articles written in English published in the last 10 years were selected, filtered based on best relevance. Active immunotherapies include systemic temozolomide, monoclonal antibodies, and vaccines. In several preclinical and clinical trials, adoptive immunotherapies, including T, natural killer, and natural killer T engineered cells, have been shown to be potential treatment options for relapsing gliomas. Systemic temozolomide is considered the backbone for newly diagnosed HGGs. Bevacizumab and rindopepimut are promising second-line treatments. Adoptive immunotherapies have been proven for relapsing tumors, but further evidence is needed.

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The Evolving Field of Genetic Epidemiology: From Familial Aggregation to Genomic Sequencing

American Journal of Epidemiology ◽

10.1093/aje/kwz193 ◽

2019 ◽

Vol 188 (12) ◽

pp. 2069-2077

Author(s):

Priya Duggal ◽

Christine Ladd-Acosta ◽

Debashree Ray ◽

Terri H Beaty

Keyword(s):

Genetic Epidemiology ◽

Disease Risk ◽

Familial Aggregation ◽

Rna Expression ◽

Entire Genome ◽

The Past ◽

Future Challenges ◽

The Individual ◽

Study Designs ◽

Health Applications

Abstract The field of genetic epidemiology is relatively young and brings together genetics, epidemiology, and biostatistics to identify and implement the best study designs and statistical analyses for identifying genes controlling risk for complex and heterogeneous diseases (i.e., those where genes and environmental risk factors both contribute to etiology). The field has moved quickly over the past 40 years partly because the technology of genotyping and sequencing has forced it to adapt while adhering to the fundamental principles of genetics. In the last two decades, the available tools for genetic epidemiology have expanded from a genetic focus (considering 1 gene at a time) to a genomic focus (considering the entire genome), and now they must further expand to integrate information from other “-omics” (e.g., epigenomics, transcriptomics as measured by RNA expression) at both the individual and the population levels. Additionally, we can now also evaluate gene and environment interactions across populations to better understand exposure and the heterogeneity in disease risk. The future challenges facing genetic epidemiology are considerable both in scale and techniques, but the importance of the field will not diminish because by design it ties scientific goals with public health applications.

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Effectiveness of Single-surface ART Restorations in the Permanent Dentition: A Meta-analysis

Journal of Dental Research ◽

10.1177/154405910408300207 ◽

2004 ◽

Vol 83 (2) ◽

pp. 120-123 ◽

Cited By ~ 93

Author(s):

J.E. Frencken ◽

M.A. van ’t Hof ◽

W.E. van Amerongen ◽

C.J. Holmgren

Keyword(s):

Randomized Clinical Trials ◽

Meta Analysis ◽

Permanent Teeth ◽

Atraumatic Restorative Treatment ◽

Restorative Treatment ◽

The Past ◽

Significant Difference ◽

Maximum Period ◽

Amalgam Restorations ◽

Late Group

Over the past few years, there has been an increase in the number of studies reporting on various aspects of the Atraumatic Restorative Treatment (ART) approach. Five randomized clinical trials in which ART restorations with glass ionomers were compared with amalgam restorations in permanent teeth for a maximum period of 3 yrs constituted the database. This meta-analysis divided the publications into ‘early’ (1987–1992) and ‘late’ (1995-) studies on the basis of improvements in the approach. The analysis showed that, in the ‘early’ studies, single-surface amalgam restorations survived statistically significantly longer than comparable ART restorations after 1, 2, and 3 yrs. This trend did not continue into the late group of studies; no statistically significant difference between the 2 types of restorations was found. Based on the available data, it appears that there is no difference in survival results between single-surface ART restorations and amalgam restorations in permanent teeth over the first 3 yrs.

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Hyperthermia and voluntary exhaustion: integrating models and future challenges

Applied Physiology Nutrition and Metabolism ◽

10.1139/h07-043 ◽

2007 ◽

Vol 32 (4) ◽

pp. 808-817 ◽

Cited By ~ 32

Author(s):

Stephen S. Cheung

Keyword(s):

Heat Storage ◽

Brain Temperature ◽

Voluntary Exercise ◽

Future Research ◽

Laboratory Studies ◽

Exertional Heat Illness ◽

Non Invasive ◽

The Past ◽

Future Challenges ◽

Effects Of Temperature

Over the past decade, research interest has risen on the direct effects of temperature on exercise capacity and tolerance, particular in the heat. Two major paradigms have been proposed for how hyperthermia may contribute to voluntary fatigue during exercise in the heat. One suggests that voluntary exhaustion occurs upon the approach or attainment of a critical internal temperature through impairment in a variety of physiological systems. An alternate perspective proposes that thermal inputs modulate the regulation of self-paced workload to minimize heat storage. This review seeks to summarize recent research leading to the development of these two models for hyperthermia and fatigue and explore possible bridges between them. Key areas for future research and development into voluntary exhaustion in the heat include (i) the development of valid and non-invasive means to measure brain temperature, (ii) understanding variability in perception and physiological responses to heat stress across individuals, (iii) extrapolating laboratory studies to field settings, (iv) understanding the failure in behavioural and physiological thermoregulation that leads to exertional heat illness, and (v) the integration of physiological and psychological parameters limiting voluntary exercise in the heat.

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A perspective on role of calcium and vitamin D in cardiovascular outcomes and lipid profile

Journal of Basic and Clinical Physiology and Pharmacology ◽

10.1515/jbcpp-2014-0116 ◽

2015 ◽

Vol 26 (5) ◽

Cited By ~ 1

Author(s):

Tarun Arora ◽

Harmeet Singh Rehan

Keyword(s):

Vitamin D ◽

Calcium Supplementation ◽

Meta Analysis ◽

Disease Status ◽

Controlled Trials ◽

Lipid Levels ◽

Randomized Controlled ◽

The Past ◽

Vitamin D Supplements

AbstractRecent concerns on increased incidence of myocardial infarction and stroke on administration of calcium and vitamin D supplements have alarmed the physicians about safety of these drugs. Although both calcium and vitamin D have been shown in the past to have beneficial effect on cardiovascular disease status through lowering of harmful lipids, these findings have been contradicted by some recent meta-analysis and randomized controlled trials that have shown no beneficial or in some cases a deteriorating effect of these supplements on lipid levels. In particular, calcium supplementation has been associated more with increased incidence of cardiovascular morbidity than vitamin D, but the convincing proof is still lacking. Here we have highlighted the results of some significant studies that might impact the prescription of these drugs.

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