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Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."
Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011
Dr. Shankar P.R.
"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."
Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011 Anuradha
Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.
Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020
Original article / research
Full Version
Effect of Consanguinity on the Audio Profile of Non Syndromic Sensorineural Hearing Impaired Children: A Cross-sectional Study
Correspondence Address :
KS Gangadhara,
Professor and Head, Department of Ear Nose Throat, McGANN Teaching District Hospital, Shivamogga, Karnataka-577201, India.
E-mail: mrushivamoga@gmail.com
Introduction: The incidence of bilateral sensorineural hearing loss is quite notable in live births worldwide. Among the etiologies, the primary aetiology is thought to be genetic, followed by non heritable, and unknown.
Aim: To study the effect of consanguinity on audiological profile in children presented with non syndromic sensorineural hearing loss.
Materials And Methods: This cross-sectional study was conducted in the Department of Ear Nose Throat, McGANN Teaching District Hospital (Shimoga Institute of Medical Sciences), Shivamogga, Karnataka, India, from January 2019 to December 2020, among 95 children with non syndromic sensorineural hearing loss. A Pure Tone Audiometry (PTA) test was done for each patient both air conduction and bone conduction thresholds were tested using different transducers. An audiogram was collected and the degree of hearing loss of each patient was analysed. Statistical tests were performed using Statistical Package for Social Sciences (SPSS) version 34.0, Kruskal-Wallis test, one-way Analysis of Variance (ANOVA) was used for comparing the difference in PTA followed by the Mann-Whitney U test.
Results: The mean age of the study population was 9.7 years; 39 subjects were female, and 56 were male. The PTA among the study population showed asymmetric audiograms in 17 (17.9%) children. A majority (60, 63%) of the participants were born out of consanguineous marriage. Total 80 (84.2%) children had bilateral hearing loss, among which 58 (72.5%) were cases of bilateral profound. One-way ANOVA showed that there was an overall significant difference between the consanguinity and non consanguinity groups and post-hoc analysis with the Mann-Whitney U test revealed a significant difference between the different degrees of consanguineous marriage.
Conclusion: Consanguinity affects the audio profile (PTA) among the non syndromic hearing-impaired children.
Audiogram, Bilateral hearing loss, Pure tone audiometry
Sensorineural hearing loss very common type of permanent loss of hearing becoming an important cause of disability in childhood. Studies from outside India have shown a 1-2 per thousand children had permanent hearing loss (1),(2). In a study done by Bhatia in urban Lucknow, six among 1332 children were found with perceptive deafness (3). Hearing disability census in 2011 India showed that 2.4 per 1000 below the age of 10 years (4). Share of the disabled population in Karnataka (India, 2018) showed that hearing, disability among males was 0.3%, and females were 0.4% (5).
Hearing disability suggests a loss in hearing greater than 35 decibels (dB) in the better hearing ear for children. Hearing loss may vary from severe to profound and may be presented in unilateral or bilateral forms. Although there are several factors encountered with hearing loss, the most researched topic is the genetic factor as revealed by the consanguinity of the parents.
A gold standard for the assessment of deafness is Pure Tone Audiometry (PTA). Depending upon the range of hearing loss, the result is interpreted as mild, moderate, severe to profound (6). Further, studies from the Arabian Gulf countries and eastern Mediterranean countries showed that a higher prevalence of consanguinity (54%), had a higher risk for diseases such as hearing loss (7),(8). Similarly, children born out of consanguinity have three times more likelihood of developing permanent deafness. The second-degree parents have three times the chances, and the third-degree has two times the chances of hearing disability (9). Hence, the study aimed to find an association between the audiological profiles among different degrees of consanguinity in children presented with non syndromic sensorineural hearing loss.
This cross-sectional study was conducted in the Department of Ear Nose Throat, McGANN Teaching District Hospital (Shimoga Institute of Medical Sciences), Shivamogga, Karnataka, India, from January 2019 to December 2020. Approval of the study was obtained from the Institutional Ethical Clearance Board (SIMS/IEC/214/2015-16). Screening for non syndromic congenital Sensorineural Hearing Loss (SNHL) for GJB2 mutations was conducted as a part of the study approved by the RGUHS and the audiological report was used for this paper. Children from Taranga School for Hearing Impaired (Shimoga and Bhadravathi taluk) and Mother Teresa Residential School for Hearing Impaired, (Bhadravathi taluk) were included in this study (after obtaining permission from the concerned authority and permission from the parent of/Guardian), along with the subjects from the outpatient department of the study institute. Informed consent was obtained from each subject in the format approved by the institutional ethical clearance board.
Inclusion criteria: Screening of 95 unrelated subjects, within the age of 17 years of both gender was done.
Exclusion criteria: Patients who had conductive hearing loss, syndromic hearing loss, had taken ototoxic drugs, history of otorrhea, head trauma, meningitis, Neonatal Intensive Care Unit (NICU) admissions, kernicterus, any other perinatal pathology, maternal complications during pregnancy, or history of maternal consumption of ototoxic drugs during pregnancy; or any other known causes of hearing loss were not included in this study.
Study Procedure
The audiological assessment was carried out in a special sound-treated room by an audiologist using a diagnostic audiometer (inner acoustic AD629). A PTA test was done using different transducers. Air conduction thresholds were tested using headphones (Sennheisers HD 300 supra-aural headphones) and bone conduction thresholds were tested using a bone vibrator (Radio ear B-71 w). Patients were instructed to press the patient response switch button whenever a sound was heard, they were expected to respond even to the mildest sound heard by them. The minimum level at which patients responded was taken as their threshold, a whole assessment was carried out using a standardised threshold estimation method. Patient responses were plotted on graphical representation on an audiogram, tested frequencies for air conduction were 250 Hz, 500 Hz,1 kHz, 2 kHz, 4 kHz, and 8 kHz and bone conduction thresholds were tested at 250 Hz, 500 Hz,1 kHz,2 kHz, and 4 kHz.
PTA tests were conducted binaurally for each patient. Based on air conduction and bone conduction thresholds Air-Bone Gap (ABG) could be determined. ABG is the difference between air conduction and bone conduction thresholds, their gap is essential to determine the type of hearing loss.
The type of hearing loss could be conductive, sensorineural, and mixed. In conductive hearing loss (air-bone gap would be greater than 10-15 dB). In the sensorineural hearing loss, the air-bone gap would be within 5 dB and in mixed hearing loss both groups will dip below normal levels and the ABG would be more than 10-15 dB (10). In the present study, patients with conductive and mixed types of hearing loss were ruled out. Patients with pure sensorineural type were selected. A pattern of audiograms was determined based on standard protocol and classifications. The degree of hearing loss was measured based on the mean average of a threshold at 500 Hz, 1 kHz, 2 kHz and 4 kHz. Mean values were considered as pure tone audiometry thresholds and Goodman’s classification (11) was followed to finalize the degree of hearing loss of each patient.
The subjects were grouped as
• Group I with first-degree consanguinity
• Group II with second-degree consanguinity
• Group III with third-degree consanguinity
• Group IV with no consanguinity
Statistical Analysis
The descriptive data was entered in excel and Statistical Package for Social Sciences (SPSS) version 34.0 was used for statistical evaluation. The test of normality for PTA values was evaluated using the Kolmogorov-Smirnov test of normality. The result of the Kolmogorov-Smirnov test statistic showed that the PTA values were not normally distributed between the groups, so Kruskal-Wallis one-way Analysis of Variance (ANOVA) test opted for comparison followed by the Mann-Whitney U test. A p-value<0.05 was considered significant.
The mean age of the study population was 9.7 years. There were 39 females and 56 males (Table/Fig 1). Among the 95 subjects, 60 were born out of consanguineous marriage. Out of those 60 children nine had family history of deafness, while five in the non-consanguineous group had a positive history. Overall, 82.1% of the subjects showed asymmetric type of audiogram (Table/Fig 2). Bilateral type of hearing loss was highest among the group I (first-degree), followed by group III (third-degree) and group II (second-degree) (Table/Fig 3). Among the children born out of consanguineous marriage (group IV), unilateral deafness was the least. Whereas the children born out of non-consanguineous marriage, bilateral deafness was more than unilateral deafness as shown in (Table/Fig 3).
The comparison conducted to examine the difference in PTA according to the type of marriage involved is depicted in (Table/Fig 4), (Table/Fig 6). It was observed that the median PTA values among the consanguineous groups were high when compared to the non-consanguineous group (group IV) in both the ear, as shown in (Table/Fig 4), and there was a statistically significant difference, as shown in (Table/Fig 5), (Table/Fig 6).
The primary purpose of the study was to find the distribution of hearing loss based on the audiogram and consanguinity among non syndromic sensorineural hearing loss children. It was found that consanguinity did affect the audio profile among the non syndromic hearing-impaired children.
As studies have revealed that a major share of hearing loss in children is attributed to a hereditary cause and nearly 70% of them are non syndromic (12),(13),(14),(15),(16),(17). Further consanguineous marriage is known to be the cause of intensification of any hereditary diseases, and so is in the case of NSHL. Consanguineous marriage is one of the most types of marriage in southern India (the index study location) (18). This tradition is also common among the Saudi and Pakistani communities (19),(20).
Similar to the present study, Padma G et al., from Hyderabad had worked on subjects with profound sensorineural hearing loss, had reported 54.1% of consanguineous marriages (21). Also a study conducted in rural Pakistan on paediatric hearing loss, reported that in the population with severe hearing loss, 70% were the outcome of consanguineous marriages (22). Hence, high prevalence of consanguinity causes higher rates of deafness.
When the participants were divided according to the laterality of hearing loss, it was found that among the study population, bilateral hearing loss was seen in 61.05% subjects (Table/Fig 3). A similar incident was reported from the Rehabilitation Deputy of the welfare organisation of Iran- the bilateral configuration of hearing loss was 62.9% among those born out of consanguineous marriage (23). The high prevalence of bilateral hearing loss among the children born out of consanguineous marriage has to be explored. In several studies, on consanguinity in samples of varied ethnicity-Turkish, Iranian and Tunish-it was found that mutations in COL11A2 cause autosomal recessive non syndromic hearing loss. Further, hearing loss caused by this mutation was of profound type with prelingual hearing loss onset (24),(25). In a study by Sloan-Heggen CM et al., on the spectrum of autosomal recessive hereditary hearing loss in Iran, it was found that hearing loss was severe-to-profound in 85% of probands, moderate-to-severe in 14% and mild-to-moderate in 1% (25). In a study done by Debnath TK et al., to find out the frequency of consanguinity and positive family history of hearing impairment among deaf children in a deaf school in Bangladesh, it was found that 90.0% of children with deafness showed bilateral profound hearing loss and 20.0% had bilateral severe hearing loss. Overall, 82% were with bilateral sensorineural and 18% were bilateral mixed type deafness (26). These results are similar to the present study findings.
Not many studies have been published on the incidence of bilateral hearing loss based on the consanguinity of marriage. In a study by Jamal TS et al., in a Saudi population (27), it was revealed that the level of hearing impairment was higher in siblings whose parents had consanguineous marriages. In the present study, there was a significant difference in the scores for consanguineous and non-consanguineous instances. It was observed that the median values of PTA were higher in the consanguineous group than in the non consanguineous group. Observational studies have ascertained that consanguinity is a factor in the occurrence of hearing loss. The lower the degree of consanguinity higher is the susceptibility to hearing loss (9). In this study, it was seen that the difference in PTA with respect to the type of marriage existed between the degree and non consanguineous type of marriage. This shows that the selected population did account for the effect of PTA with the degree of consanguinity, which implies that the cause of hearing loss remains determined with the PTA testing.
Limitation(s)
This was a cross-sectional study. The sample size among the second degree of consanguineous marriage was less. Hence, the approximation to the form of the normal distribution becomes less robust at sample sizes smaller than 10, so no significant difference was formed when the results of other groups were compared with this group. So, it is strongly recommended to conduct a study of this nature on a bigger groups with substantially larger subgroups.
It was observed that the hearing ability of the subjects was more of a bilaterally symmetrical type of deafness and was prevalent both among the consanguineous and non consanguineous study population. But in consanguineous marriage, the degree of hearing loss was more, as estimated by PTA. Continued awareness in the community regarding the high prevalence of hearing loss in children born to consanguineous parents may avoid the consanguineous marriage itself. In the event of already existing children with hearing disability to the consanguineous parents, early diagnosis of hearing loss by audiological evaluation in such children would be beneficial for their proper rehabilitation and this will make them normalise with other people in the society.
Authors acknowledge the Department of Health Research, New Delhi, India for providing the facilities at Multidisciplinary Research Unit for the study. We are grateful to Taranga high school for deaf children Shimoga and Bhadravathi, Mother Theresa Residential School for Hearing Impaired, Bhadravathi for their participation and support. Also thank Mr. Geethesh audiologist for helping through the study. Special thanks to Mrs. Revathy, Biostatician for assisting through the statistical analysis.
DOI: 10.7860/JCDR/2022/56290.16967
Date of Submission: Mar 14, 2022
Date of Peer Review: Apr 16, 2022
Date of Acceptance: Jun 24, 2022
Date of Publishing: Sep 01, 2022
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was Ethics Committee Approval obtained for this study? Yes
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. NA
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