scholarly journals Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden

Life ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 258
Author(s):  
Samuel Mawuli Adadey ◽  
Edmond Wonkam-Tingang ◽  
Elvis Twumasi Aboagye ◽  
Daniel Wonder Nayo-Gyan ◽  
Maame Boatemaa Ansong ◽  
...  

Mutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic (PLP) variants in connexin genes associated with HI. We conducted a systematic review of the literature based on targeted inclusion/exclusion criteria of publications from 1997 to 2020. The databases used were PubMed, Scopus, Africa-Wide Information, and Web of Science. The protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020169697”. The data extracted were analyzed using Microsoft Excel and SPSS version 25 (IBM, Armonk, New York, United States). A total of 571 independent studies were retrieved and considered for data extraction with the majority of studies (47.8% (n = 289)) done in Asia. Targeted sequencing was found to be the most common technique used in investigating connexin gene mutations. We identified seven connexin genes that were associated with HI, and GJB2 (520/571 publications) was the most studied among the seven. Excluding PLP in GJB2, GJB6, and GJA1 the other connexin gene variants (thus GJB3, GJB4, GJC3, and GJC1 variants) had conflicting association with HI. Biallelic GJB2 PLP variants were the most common and widespread variants associated with non-syndromic hearing impairment (NSHI) in different global populations but absent in most African populations. The most common GJB2 alleles found to be predominant in specific populations include; p.Gly12ValfsTer2 in Europeans, North Africans, Brazilians, and Americans; p.V37I and p.L79Cfs in Asians; p.W24X in Indians; p.L56Rfs in Americans; and the founder mutation p.R143W in Africans from Ghana, or with putative Ghanaian ancestry. The present review suggests that only GJB2 and GJB3 are recognized and validated HI genes. The findings call for an extensive investigation of the other connexin genes in many populations to elucidate their contributions to HI, in order to improve gene-disease pair curations, globally.

2016 ◽  
Vol 16 (2) ◽  
pp. 135-146 ◽  
Author(s):  
Tae-Young Choi ◽  
Jong In Kim ◽  
Hyun-Ja Lim ◽  
Myeong Soo Lee

Background. Insomnia is a prominent complaint of cancer patients that can significantly affect their quality of life and symptoms related to sleep quality. Conventional drug approaches have a low rate of success in alleviating those suffering insomnia. The aim of this systematic review was to assess the efficacy of acupuncture in the management of cancer-related insomnia. Methods. A total of 12 databases were searched from their inception through January 2016 without language restriction. Randomized controlled trials (RCTs) and quasi-RCTs were included if acupuncture was used as the sole intervention or as an adjunct to another standard treatment for any cancer-related insomnia. The data extraction and the risk of bias assessments were performed by 2 independent reviewers. Results. Of the 90 studies screened, 6 RCTs were included. The risk of bias was generally unclear or low. Three RCTs showed equivalent effects on the Pittsburgh Sleep Quality Index and 2 RCTs showed the similar effects on response rate to those of conventional drugs at the end of treatment. The other RCT showed acupuncture was better than hormone therapy in the numbers of hours slept each night and number of times woken up each night. The 3 weeks of follow-up in 2 RCTs showed superior effects of acupuncture compared with conventional drugs, and a meta-analysis showed significant effects of acupuncture. Two RCTs tested the effects of acupuncture on cancer-related insomnia compared with sham acupuncture. One RCT showed favourable effects, while the other trial failed to do so. Conclusion. There is a low level of evidence that acupuncture may be superior to sham acupuncture, drugs or hormones therapy. However, the number of studies and effect size are small for clinical significance. Further clinical trials are warranted.


PEDIATRICS ◽  
2008 ◽  
Vol 121 (Supplement 2) ◽  
pp. S107.2-S107 ◽  
Author(s):  
Hasantha Gunasekera ◽  
Leigh Haysom ◽  
Peter Morris ◽  
Jonathan Craig

Author(s):  
Liz Kellermeyer ◽  
Ben Harnke ◽  
Shandra Knight

Health sciences librarians from two institutions conducted an assessment of Covidence, a subscription-based systematic review tool, and Rayyan, a free competitor, for abilities, strengths, and limitations. Covidence mirrors the multiphase review process, including data extraction, directly in its design. Rayyan, on the other hand, does not easily mirror this process and really only aids with the reference screening phases. Rayyan takes a minimalist approach, placing more of the logistical and workflow burden on the users themselves. Many of the peripheral features (e.g., highlighting, tagging, etc.) are comparable. Covidence works well and is well suited for more rigorous systematic reviews, where methodology must be adhered to and documented at each stage. In spite of some limited functionality and clunky features, Rayyan is a good free alternative for article screening and works as a viable upgrade from a workflow using only EndNote and/or Excel.


Biomolecules ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 1237
Author(s):  
Marie Orliaguet ◽  
Laurent Misery

The pathophysiology of primary burning mouth syndrome (BMS) has been extensively debated but is poorly understood despite a large number of hypotheses attempting to explain its etiopathogenic mechanisms. The aim of the present work was to systematically review papers that could provide arguments in favour of the neuropathic and psychogenic components of primary BMS for a better understanding of the disease. This systematic review (SR) was registered in PROSPERO (CRD42021224160). The search was limited to articles in English or French from 1990 to 01 December 2020. A total of 113 articles were considered for data extraction. We divided them into four subgroups: pharmacological and nonpharmacological management studies (n = 23); neurophysiological studies (n = 35); biohistopathological studies (n = 25); and questionnaire-based studies (n = 30). Several of these studies have shown neuropathic involvement at various levels of the neuraxis in BMS with the contribution of quantitative sensory testing (QST), functional brain imaging, and biohistopathological or pharmacologic studies. On the other hand, the role of psychological factors in BMS has also been the focus of several studies and has shown a link with psychiatric disorders such as anxiety and/or depression symptoms. Depending on the patient, the neuropathic and psychogenic components may exist simultaneously, with a preponderance of one or the other, or exist individually. These two components cannot be dissociated to define BMS. Consequently, BMS may be considered nociplastic pain.


2004 ◽  
Vol 197 (1-2) ◽  
pp. 19-23 ◽  
Author(s):  
Gui-zhi Shi ◽  
Lu-xia Gong ◽  
Xiao-hu Xu ◽  
Wen-ying Nie ◽  
Qian Lin ◽  
...  

2017 ◽  
Vol 5 (1) ◽  
pp. 80-87
Author(s):  
Martin Van Bruinessen

Ali Ezzatyar, The Last Mufti of Iranian Kurdistan: Ethnic and Religious Implications in the Greater Middle East. New York: Palgrave Macmillan, 2016. xv + 246 pp., (ISBN 978-1-137-56525-9 hardback).For a brief period in 1979, when the Kurds had begun confronting Iran’s new Islamic revolutionary regime and were voicing demands for autonomy and cultural rights, Ahmad Moftizadeh was one of the most powerful men in Iranian Kurdistan. He was the only Kurdish leader who shared the new regime’s conviction that a just social and political order could be established on the basis of Islamic principles. The other Kurdish movements were firmly secular, even though many of their supporters were personally pious Muslims.


2017 ◽  
Vol 3 (2) ◽  
pp. 175-193 ◽  
Author(s):  
Katherine Frances Nagels

The popular 1907–9 American newspaper comic strip character Fluffy Ruffles was an iconic embodiment of contemporary American femininity between the eras of the Gibson Girl and the later flapper and “it” girl. This article discusses Fluffy Ruffles as a popular phenomenon and incarnation of anxieties about women in the workplace, and how she underwent a metamorphosis in the European press, as preexisting ideas of American youth, wealth, and liberty were grafted onto her character. A decade after her debut in the newspapers, two films—Augusto Genina's partially extant Miss Cyclone (La signorina Ciclone,1916), and Alfredo Robert's lost Miss Fluffy Ruffles (1918)—brought her to the Italian screen. This article looks at how the character was interpreted by Suzanne Armelle and Fernanda Negri Pouget, respectively, drawing on advertisements and the other performances of Negri Pouget to reconstruct the latter. The article is illustrated with drawings and collages based on the author's research.


1968 ◽  
Vol 8 (2) ◽  
pp. 308-309
Author(s):  
Mohammad Irshad Khan

It is alleged that the agricultural output in poor countries responds very little to movements in prices and costs because of subsistence-oriented produc¬tion and self-produced inputs. The work of Gupta and Majid is concerned with the empirical verification of the responsiveness of farmers to prices and marketing policies in a backward region. The authors' analysis of the respon¬siveness of farmers to economic incentives is based on two sets of data (concern¬ing sugarcane, cash crop, and paddy, subsistence crop) collected from the district of Deoria in Eastern U.P. (Utter Pradesh) a chronically foodgrain deficit region in northern India. In one set, they have aggregate time-series data at district level and, in the other, they have obtained data from a survey of five villages selected from 170 villages around Padrauna town in Deoria.


2019 ◽  
Vol 23 (4) ◽  
pp. 442-454 ◽  
Author(s):  
Rachel Mandela ◽  
Maggie Bellew ◽  
Paul Chumas ◽  
Hannah Nash

OBJECTIVEThere are currently no guidelines for the optimum age for surgical treatment of craniosynostosis. This systematic review summarizes and assesses evidence on whether there is an optimal age for surgery in terms of neurodevelopmental outcomes.METHODSThe databases MEDLINE, PsycINFO, CINAHL, Embase + Embase Classic, and Web of Science were searched between October and November 2016 and searches were repeated in July 2017. According to PICO (participants, intervention, comparison, outcome) criteria, studies were included that focused on: children diagnosed with nonsyndromic craniosynostosis, aged ≤ 5 years at time of surgery; corrective surgery for nonsyndromic craniosynostosis; comparison of age-at-surgery groups; and tests of cognitive and neurodevelopmental postoperative outcomes. Studies that did not compare age-at-surgery groups (e.g., those employing a correlational design alone) were excluded. Data were double-extracted by 2 authors using a modified version of the Cochrane data extraction form.RESULTSTen studies met the specified criteria; 5 found a beneficial effect of earlier surgery, and 5 did not. No study found a beneficial effect of later surgery. No study collected data on length of anesthetic exposure and only 1 study collected data on sociodemographic factors.CONCLUSIONSIt was difficult to draw firm conclusions from the results due to multiple confounding factors. There is some inconclusive evidence that earlier surgery is beneficial for patients with sagittal synostosis. The picture is even more mixed for other subtypes. There is no evidence that later surgery is beneficial. The authors recommend that future research use agreed-upon parameters for: age-at-surgery cut-offs, follow-up times, and outcome measures.


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