Medical Practioners Research Articles

Euonymus Tingens Wall, (Celastraceae), a Tree of Multi-Economic Folk Utility in Raath Region (Garhwal Himalaya)

E. tingens, a temperate arborescent plant species, collected from Raath region (Dudhatoli area) of Garhwal Himalaya (U.P.) is observed to be closely associated with the folk culture, traditions and the daily life of the inhabitants of this area. The ethnobotanical importance, obtained from the natives and medical practioners represented its multipurpose economic uses in medicine, psychomedicines, dyes, timber, fodder, fuel and in folk songs etc. Hence, this tree of multieconomic value, needs to be protected and conserved. The present paper incorporated its distribution in area, brief description with figures of some parts, and various folk utility.

Future research perspective on the interfacial physics of non-invasive glaucoma testing in pathogen transmission from the eyes.

Non-contact tonometry (NCT) is a non-invasive ophthalmologic technique to measure intraocular pressure (IOP) using an air puff for routine glaucoma testing. Although IOP measurement using NCT has been perfected over many years, various phenomenological aspects of interfacial physics, fluid structure interaction, waves on corneal surface, and pathogen transmission routes to name a few are inherently unexplored. Research investigating the interdisciplinary physics of the ocular biointerface and of the NCT procedure is sparse and hence remains to be explored in sufficient depth. In this perspective piece, we introduce NCT and propose future research prospects that can be undertaken for a better understanding of the various hydrodynamic processes that occur during NCT from a pathogen transmission viewpoint. In particular, the research directions include the characterization and measurement of the incoming air puff, understanding the complex fluid-solid interactions occurring between the air puff and the human eye for measuring IOP, investigating the various waves that form and travel; tear film breakup and subsequent droplet formation mechanisms at various spatiotemporal length scales. Further, from an ocular disease transmission perspective, the disintegration of the tear film into droplets and aerosols poses a potential pathogen transmission route during NCT for pathogens residing in nasolacrimal and nasopharynx pathways. Adequate precautions by opthalmologist and medical practioners are therefore necessary to conduct the IOP measurements in a clinically safer way to prevent the risk associated with pathogen transmission from ocular diseases like conjunctivitis, keratitis, and COVID-19 during the NCT procedure.

Assessing Infection Prevention Adherence and related factors among Healthcare Workers in Covid-19 Era at a Regional Health Facility in Ghana; An Institutionalized Based Study

Introduction: The COVID-19 disease is a global problem. Healthcare providers who are at the forefront of caring for, educating and treating the infected patients are at a higher risk of contracting the disease. Effective infection control measures prevent the spread of the disease, especially among medical practioners. This study aimed to determine knowledge, attitudes, and adherence to infection prevention and related factors among healthcare workers in the COVID-19 era at Bono Regional Hospital. Methodology: A descriptive cross-sectional design was employed and (n=348) respondents were selected using a simple random sampling technique. A validated and structured questionnaire was administered face-to-face to assemble data. the Statistical Package for Social Sciences (SPSS) version 26 (USA) was used to analyze study data. Both descriptive and inferential statistics were conducted and at a 95% level of confidence and an alpha value set at <0.05, the relationship between the outcome and explanatory variables was considered significant statistically. Results: Respondents' had 52.3% adequate knowledge and 50% adequate attitudes towards infection prevention and 72.1% good adherence to infection prevention practices. Related factors such as diploma education, seminar on infection control and availability of infection prevention protocol significantly predicted providers good adherence to infection prevention and control. Conclusion: Respondents' adequate knowledge and attitudes significantly contributed to good adherence to infection prevention. Continuous training and seminars on infection prevention and control could help improve respondents' knowledge with a subsequent increase in attitudes and practices towards preventing and controlling infection, especially during a disease outbreak.

Performance evaluation of deep learning techniques for lung cancer prediction.

Due to the increase in pollution, the number of deaths caused by lung disease is rising rapidly. It is essential to predict the disease in earlier stages by means of high-level knowledge and acquaintance. Deep learning-based lung cancer prediction plays a vital role in assisting the medical practioners for diagnosing lung cancer in earlier stage. Computer-Aided diagnosis is considered to bring a boost to the field of medicine by tying it to automated systems. In this research paper, several models are experimented by using chest X-ray image or CT scan as an input to detect a particular disease. This research work is carried out to identify the best performing deep learning techniques for lung disease prediction. The performance of the method is evaluated using various performance metrics, such as precision, recall, accuracy and Jaccard index.

Cross sectional survey to assess the effectiveness of HT KOT among the Ayurveda medical practioners across India

Hypertension (High blood pressure) is ranked as the third most important risk factor for attributable burden of disease in south Asia. Hypertension (HTN) exerts a substantial public health burden on cardiovascular health status and healthcare systems in India. Overall prevalence for hypertension in India is 29.8% (95% confidence interval: 26.7–33.0). Significant differences in hypertension prevalence were noted between rural and urban parts of the population. [27.6% (23.2–32.0) and 33.8% (29.7–37.8); P = 0.05) It is estimated that at least one in four adults in India has hypertension, but, only about 12% of them have their blood pressure under control. India has set a target of 25% relative reduction in the prevalence of hypertension (raised blood pressure) by 2025. HT Kot tablet is used in the treatment and management of hypertension. HT Kot contain 3 ingredients namely Jadamamsi (Nardostachys jatamansi), Sarpagandha (Raufolia serpentine) and Ruraksha (Elaeocarpus sphaericus). It is observed that HT kot helps in improving the cardiovascular functions. It is also observed that HT Kot helps to reduce nervousness and anxiety. A descriptive cross sectional survey was done among Ayurvedic physicians in different parts of India. Out of 128 physicians, 86 (67.18%) physicians having more than 10 years of experiences. Survey reveals that majority of the physicians (more than 75%) opined that HT kot is effective in stage 1&2 hypertension. The added effect of HT Kot is that it helps to improve the quality of sleep, reduce hyperactivity in children and anxiety. Majority of the respondents opined that the ideal time of administration of HT kot is after breakfast and dinner. The combination therapy with HT Kot is good in many conditions like hyperactivity, nervousness, hyperacidity and fatigue. The present article is based on the survey conducted among the Ayurvedic practioners in different parts of India, to assess the effectiveness and additional benefits observed with HT kot.

Preparing Future Doctors for Palliative and End of Life Care in Kenya: Cross-sectional Survey

Purpose: The main aim of this study was to assess how prepared are Kenyan doctors in delivering palliative and end of life care to chronic and life-threatening conditions.
 Methodology: Cross-sectional survey was used to assess doctor’s palliative and end of life practices. Multi-center (three-mission referral and teaching hospitals in Kenya): Tenwek, Kijabe, and Chogoria were used to collect data from 96 medical practioners. Medical doctors with at least 6 months managing patients with chronic conditions (cancer, HIV/AIDS and other life-threatening conditions) were recruited into the study. The quantitative data was analysed using an independent t-test. All ethical considerations were addressed.
 Findings: Majority of doctors interviewed were generalists who had managed chronic diseases. Majority had basic concepts of palliative care and end of life care. Those who had received prior training in palliative care were better in performance’s score on knowledge questions regarding palliative care and end of life. Medical doctors were knowledgeable on psychological distress and opioids effects domains as compared to delirium and dyspnea domains. Among those who were knowledgeable in palliative care and end of life care were doctors trained outside Kenya, those who were senior with more experiences (>10 years), over 40 years and had further training after their undergraduate
 Unique Contribution to Theory, Practice and Policy: This study seeks to develop training tailored to Kenyan doctors and Physicians on end-of-life care practices in selected counties then roll-out to the rest of the counties in the country in collaboration with Ministry of Health Kenya and also provide opportunities for doctors to develop palliative and end-of-life care skills especially for resident and junior doctors. This study will also form basis for policy development on palliative and end-of-life care practices in Kenya, which currently is non-existent. End-of-life care Policy would aid in clinical application of good practices surrounding palliative and end-of-life care which should be implemented in Kenya. This study advocates inclusion of end-of-life care training modules in a standardized curriculum for undergraduate as part of training and preparing future Kenyan doctors. Further, this study can be considered as current Physician’s approach to end-of-life care practices in Kenya which then can be a basis to develop guidelines and standards addressing end-of-life which is fraught with ethical and medical dilemmas carried by healthcare professionals.

Context parameters retrieval framework from electronic healthcare record through biomedical NLP for clinical support

This paper presents architecture for extracting context features from electronic health records (EHR) to design a clinical support system using transfer learning for natural language processing (NLP). The system is trained to provide a supporting summary to the medical practioners on the basis of the ICD 9 codes and respective symptoms of the patient. The BioALBERT model has been trained over biomedical corpora and the proposed model uses improvised parameter sharing techniques and requires less physical memory. The theoretical analysis of the proposed system is supported by the experimental analysis. MIMIC-III database has been used to fine train the proposed models and to assess the efficiency and efficacy of the proposed work. This study introduced a context-aware approach for extracting useful context from EHR, which can be used to acquire a basic understanding of the treatment path.

Development and evaluation of an evidence-based health information on benzodiazepines and z-drugs

Abstract Background With approximately 1.1-1.4 million people in Germany taking benzodiazepines (BZDs) and z-drugs in a problematic or dependent manner, this is a relevant public health problem which needs to be adressed. However, it is well known that affected individuals do not receive the counseling or treatment they need. One possible solution is preventive education of affected individuals and medical practioners using evidence-based and target-group-health information (HI).The project EDER-MIA aimed to develop and evaluate evidence-based and target-group-related HI. Methods With the help of three different focus groups (18-40-years; women: 40-60-years; > 60-year-olds), the information needs of affected individuals were assessed. Based on the results, we developed the HI and received feedback from health experts. The HI was implemented online (http://www.psychenet.de) and evaluated with the ‘Usefulness Scale of Patient Information’ (USE): An assessment was made on 3 subscales with a 10-point scale from ‘1=disagree at all’ to ‘10=agree completely'. By forming a sum score (range: 0-90), an overall assessment was calculated. Results The results of the focus group study revealed the persons taking BZDs or z-drugs were in need about informations about sleep problems, the risk of taking BZDs and z-drugs and a better orientation regarding help services. The evaluation of the health information achieved medium acceptance rates of usefulness for affected persons (N = 192, 68.2% female; mean= 54.3, sd = 15.4). A somewhat higher usefulness was recognised by the medical staff (N = 58, 69.0% female, mean=64.7, sd = 17.2). Conclusions The development of target group-specific HI with the participation of affected individuals and experts is suitable for topics that are associated with possible experiences of shame and stigma. In addition to providing information about the risks of taking BZDs and z-drugs, screening of problematic BZD and z-drug use is also a matter of concern. Key messages • BZDs and z-drug use is a relevant public health concern which needs to be adressed. • Target-group specific health information for BZD and z-drug use accompanied by a screening-test can encourage affected individuals to seek medical advice.

A Case Study: Psychophysiological Impact of Polycystic Ovarian Syndrome and its Management in Pakistani Women

Poly cystic ovary syndrome (PCOS) is a complicated and heterogenous endocrine disorder in the women and it can cause different metabolic, reproductive, and psychological abnormalities and is known for effecting about one among fifteen women globally. PCOS has been frequently diagnosed in women across pakistan and is previously reported to cause different physical and psychological abnormalities like obesity, infertility, hirsutism, depression, and anxiety on a large scale. Irrespective of the higher prevalence still there is inadequacy in the knowledge about PCOS. The aim of this study is to determine the prevalence of different physical and psychological symptoms of PCOS and their co relation with the impact on the quality of life of the affected individual and common methods of treatment used for PCOS. A questionnaire-based study would be designed to collect the data randomly from women of about 17-50 years of age who are affected with PCOS. This questionnaire would be containing all the necessary questions related to the physical and psychological impacts and the treatment methods. This questionnaire-based survey would be analysed by using different statistical analysis tools to provide the complete analytical results. This study will help the medical practioners in the determination of the most prevalent symptoms and can also aid for the improvision in the treatment methods to enhance effectiveness of treatment. It can be used in different educational seminars to spread awareness regarding the symptoms and treatment. It can also aid in further research.

Modelling the Effects of Mindfulness Based Stress on Breast Cancer Survival Rate among Women in Meru and Nyeri Counties, Kenya, Using Cox Proportional Hazard Model

Breast cancer remains the most commonly diagnosed cancer among women, affecting 34 women per every 100,000. This has led to high number of fatalities annually, which need to be mitigated. Establishing alternative conventional therapies such as working on mindfulness-based stress (MBS) may be a good alternative to improve prognosis and survival rate of breast cancer patients. However, there is little information on the effects of MBS factors on breast cancer survival. The objective of this study is to predict the effect of MBS factors on breast cancer survival rate among women in Meru and Nyeri Counties using Cox Proportional Hazard Model. Both primary data and secondary data were used. Primary data was obtained using a structured questionnaire from the breast cancer survivors and the medical practioners, while secondary data was obtained from records at Meru teaching and referral hospital and Nyeri level five hospital for the period 2012 to 2017. The MBS variables included cost burden of treatment, stress on diagnosis, prolonged time taken to access treatment, poor diet, alcohol use, physical activity and lack of awareness. . This study used mixed method research design. Data obtained were analysed using R software. Kaplain-Meier estimators were used to estimate the varying effects of MBS factors on survival rate. Log-rank test was used to perform comparisons of survival curves on the patients’ survival rate considering age. The likelihood ratio test showed that MBS factors are significant in predicting hazard rates ( X2= 66.7, p = 0.0000119). Treatment period, lack of awareness, ease of coping with stress and observing the right diet were also found to significantly (p < 0.05) affect breast cancer survival rate. Access of treatment immediately after diagnosis, availing the right information to the patients, helping patients to cope easily with stress and observing the right diet were found to be the best estimators in increasing breast cancer survival rate. The study showed the importance of using model in predicting breast cancer survival rates, which can greatly improve breast cancer prognosis.

Bibliometric analysis of effect of applied magnetic field on blood flow in stenosed artery

Around 50% of the deaths in the world are because of heart diseases. One of the heart diseases is Atherosclerosis which occurs due to stenosis in arteries. Researchers and medical practioners are working on how to reduce the reduction/fluctuations in blood flow in stenosed arteries. One of the methods under consideration is the application of magnetic field on blood flow in stenosed arteries. With limited healthcare resources, Bibliometric studies help scholars and funding agencies to focus on the research area in which more attention is needed. The main purpose of this bibliometric analysis is to find the development in blood flow in stenosed arteries and to identify potential areas for further research. This paper provides an overall picture of research carried in blood flow in stenosed arteries in the presence of applied magnetic field and, in the current century. This analysis is done using mainly Scopus database along with Google scholar, data taken from Mendeley and using some graphical tools. This survey revealed that the maximum publications are from journals and conferences and India lead the publications in this area. Blood flow and stenosis are frequently used key words and major contributions in this area are from computer science journals followed by mechanical journals. Medical and Engineering are two main fields in which the publications in this topic are more. The high number of citations of the journals in which the related articles are published shows the importance and thrust in this area. This paper puts a light on contribution of researchers in the area which will help medical practioners to take up the idea to next level.

Bibliometric analysis of effect of applied magnetic field on blood flow in stenosed artery

Around 50% of the deaths in the world are because of heart diseases. One of the heart diseases is Atherosclerosis which occurs due to stenosis in arteries. Researchers and medical practioners are working on how to reduce the reduction/fluctuations in blood flow in stenosed arteries. One of the methods under consideration is the application of magnetic field on blood flow in stenosed arteries. With limited healthcare resources, Bibliometric studies help scholars and funding agencies to focus on the research area in which more attention is needed. The main purpose of this bibliometric analysis is to find the development in blood flow in stenosed arteries and to identify potential areas for further research. This paper provides an overall picture of research carried in blood flow in stenosed arteries in the presence of applied magnetic field and, in the current century. This analysis is done using mainly Scopus database along with Google scholar, data taken from Mendeley and using some graphical tools. This survey revealed that the maximum publications are from journals and conferences and India lead the publications in this area. Blood flow and stenosis are frequently used key words and major contributions in this area are from computer science journals followed by mechanical journals. Medical and Engineering are two main fields in which the publications in this topic are more. The high number of citations of the journals in which the related articles are published shows the importance and thrust in this area. This paper puts a light on contribution of researchers in the area which will help medical practioners to take up the idea to next level.

Phenolic Reaction Products from The Thermal Degradation of Catha edulis

Herein, we report phenolic reaction products from the thermolysis of khat that is important in understanding the smoking of khat under conditions that are representative of cigarette smoking. Phenolic compounds occur naturally and are precursors for grave environmental health problems such as cancer and cell injury. This study investigates the phenolic compounds generated from the thermal degradation of Catha edulis, computes the global energies and entropies of selected phenolic compounds and their derivatives, and performs their geometry optimization using Gaussian ’09 computational code. In addition, we report on the elemental speciation of thermal char from khat pyrolysis. The thermal degradation of khat was conducted in an inert nitrogen environment at 1 atmosphere at a contact time of 2s using a quartz tubular reactor. The pyrolysis effluent was characterized using a Gas-chromatograph coupled to a mass spectrometer. The GC-MS results indicated that khat pyrolysis yielded a significant number of phenolic compounds such as phenol, p-cresol, catechol, hydroquinone and substituted methoxy phenols. The maximum release of these compounds occured between 400 and 550 °C. Hydroquinone gave the highest yield of 21.32% in the entire pyrolysis temperature while p-cresol gave a yield of 2.54% in the same temperature range. Phenolic compounds exhibited endothermicity with increase in temperature. Because of the potent nature of khat cigarette, it is necessary for government authorities, policy makers and medical practioners to mount campaigns against khat smoking.

Integration of eMental health technologies into traditional community-based interventions

Abstract Background Very little research has been conducted to appraise the merits of including municipalities and their local health providers in the promotion of digital health programmes. While more and more municipalities have locally implemented a health strategic plan and have focused on building local network of professionals, how do the latter react to the implementation of innovative e-mental health community-based programmes? Methods In 2018, 42 French municipalities volunteered to promote StopBlues, a digital health tool aimed at preventing mental distress and suicide. In each municipality, a local delegate was responsible for the promotion of the tool. Using observations, questionnaires and interviews with the delegates, we analysed how the promotion of StopBlues® was conducted in each setting. 2/3 of these municipalities started the promotion directly, and in 2019, a second wave of municipalities launched the promotion with a stronger support from the research team backed by the French World Health Organization Collaborating Centre for Research and Training in Mental Health (WHOCC). Results The use of digital technology in the implementation of a mental health programme received a mixed reception from the local health professionals because of its innovative aspect. 2/3 of the delegates declared that they were struggling to create a stronger network of local partners including private medical practioners. 63% of the respondents stated that their municipalities got involved in the programme for networking purposes. Conclusions Digital technologies have initiated a paradigm shift in the way community-based health programmes are set up but need to strengthen their territorial anchorage in order to be accepted and used at the local level. Key messages Digital technology can be a strong lever against health inequities but its effectiveness has to be studied carefully. Digital technolgy has to be implemented in local settings with the collaboration of local actors in order to be accepted and used.

COVID 19 Pandemic, Mechanism of Pathogenesis, Preventions and Possible Cures to Save Humanity: A Study

The name "coronavirus" is derived from Latin corona, meaning "crown" or "wreath due to the characteristic appearance of virions , which have a fringe of large, bulbous surface projections creating an image reminiscent of a crown or of a solar corona. Human coronaviruses were discovered in the 1960s. The third novel coronavirus to emerge in this century is called SARS-CoV-2. It caused coronavirus disease 2019 (COVID-19), which emerged from China in December 2019 and was declared a global pandemic by the World Health Organization on March 11, 2020. The virus enters into the host body through the mouth, nose and eye. From there, the virus makes its way down into the air sacs inside the lungs, known as alveoli. Once in the alveoli, the envelope spike glycoprotein present in the virus binds to its cellular receptor, angiotensin-converting enzyme 2 (ACE2) for SARS-CoV-2. There are two commonly used nucleic acid detection technologies forSARS-CoV-2 are real-time quantitative polymerase chain reaction (RT-qPCR) and high-throughput sequencing. With no sure shot vaccine/ drug in sight till late 2021, medical practioners are using existing therapies and repurposing drugs to save lives. Prevention is the only way to stay safe and healthy. Immunity plays an important role in this disease, so it important have nutritious and healthy food to boost the immunity.

Trends in Cigarette Smoking in Kenya and the Challenges Impeding Cessation

Despite intense campaigns to minimize cigarette smoking owing to the socio-economic risks associated with it, cigarette smoking worldwide has continued to rise. This is a major concern to both public health authorities and medical practioners. This paper examines the Kenyan status on cigarette smoking through measurement of various parameters including mass media campaigns, taxation, level of education, nature of employment, and government legislation. Descriptive research design was employed because of its robust capability to give an in depth analysis of state of affairs as it exists in relation to cigarette smoking patterns in three Kenyan counties (Nakuru, Kisii and Migori). The study involved respondents above 18 years of age and was carried out between March and April 2018. Chi-square statistics was used to assess the association between various variables. It is clear from this study that most cigarette smokers had acquired high school education and above; representing 70% of the respondents. At 95% confidence limit, the p-value = 0.39 and confidence interval, CI = －1.965－4.156. Therefore, cigarette smoking is dependent on the level of education. The odd ratio (OR) of 3.10 indicates a strong association between smoking and the level of education. This study also revealed that majority of the respondents smoked between 6 and 10 cigarettes per day (36%). Besides, 50% of the target population admitted to being aware of the health hazards caused by cigarette smoking despite their continued smoking habits. This survey has demonstrated that most cigarette smokers are not only well educated but are aware of the dangers of cigarette smoking. Moreover, most respondents are addicted to cigarette smoking despite taxes imposed on tobacco products including cigarettes. This characteristic behaviour may be attributed to high unemployment rates in Kenya which this study has established as one of the major reasons for cigarette smoking.

Trends in Cigarette Smoking in Kenya and the Challenges Impeding Cessation

Despite intense campaigns to minimize cigarette smoking owing to the socio-economic risks associated with it, cigarette smoking worldwide has continued to rise. This is a major concern to both public health authorities and medical practioners. This paper examines the Kenyan status on cigarette smoking through measurement of various parameters including mass media campaigns, taxation, level of education, nature of employment, and government legislation. Descriptive research design was employed because of its robust capability to give an in depth analysis of state of affairs as it exists in relation to cigarette smoking patterns in three Kenyan counties (Nakuru, Kisii and Migori). The study involved respondents above 18 years of age and was carried out between March and April 2018. Chi-square statistics was used to assess the association between various variables. It is clear from this study that most cigarette smokers had acquired high school education and above; representing 70% of the respondents. At 95% confidence limit, the p-value = 0.39 and confidence interval, CI = －1.965－4.156. Therefore, cigarette smoking is dependent on the level of education. The odd ratio (OR) of 3.10 indicates a strong association between smoking and the level of education. This study also revealed that majority of the respondents smoked between 6 and 10 cigarettes per day (36%). Besides, 50% of the target population admitted to being aware of the health hazards caused by cigarette smoking despite their continued smoking habits. This survey has demonstrated that most cigarette smokers are not only well educated but are aware of the dangers of cigarette smoking. Moreover, most respondents are addicted to cigarette smoking despite taxes imposed on tobacco products including cigarettes. This characteristic behaviour may be attributed to high unemployment rates in Kenya which this study has established as one of the major reasons for cigarette smoking.

Mixed method survey to assess the problems and propose solutions for implementation of CME/CPD in Sindh, Pakistan

Objectives:To determine the type of CME/CPD sessions attended by doctors, identify the problems with implementation of CME/CPD program and propose possible solutions for successful implementation of CME/CPD Program.Methods:This was a concurrent triangulation mixed method study. Quantitative questionnaires were filled by faculty and physicians from different specialties. The qualitative component had both focus groups and in depth interviews conducted with different professional bodies (PMA), faculty JSMU, College of Family Physicians. This study was done in 2016-2017.Results:More than half of the participants (53.6%) reported that CPD/CME should be mandatory. Doctors who had graduated from outside Karachi were significantly less likely to report CPD/CME to be mandatory as compared to graduates from Karachi (p=0.004).Top three factors which influenced HCP’s to attend CPD/CME included career progression (65.1%), interest (54.7%) and knowledge gap (50.5%). The most common perceived barriers were lack of study leave, cost and work-life imbalance. The implementation issues expressed by different stakeholders included lack of doctor’s interest, busy clinical schedule and poor accessibility.Conclusion:Mostly medical practioners believe that CPD program is an important step toward enabling physicians to demonstrate their competency and professionalism to themselves and others. The PM&DC has to take practical steps to evaluate the cognitive, clinical, and humanistic attributes of certified doctors.

Appraising Perception and Knowledge of Medical Practioners in Context with Ubiquitous Aspects of Consent

Appraising Perception and Knowledge of Medical Practioners in Context with Ubiquitous Aspects of Consent

Genetic screening involving 101 hot spots for neonates not passing newborn hearing screening and those random recruited in Dongguan

In order to investigate essential molecular causes for hearing loss and mutation frequency of deafness-related genes, 1315 newborns who did not pass the Newborn Hearing Screening (NHS) (audio-no-pass) and 1000 random-selected infants were subjected to detection for 101 hotspot mutations in 18 common deafness-related genes. Totally, 23 alleles of 7 deafness genes were detected out. Significant difference (χ2 = 25.320, p = 0.000) existed in causative mutation frequency between audio-no-pass group (81/1315, 6.160%) and random-selected cohort (18/1000, 1.80%). Of the genes detected out, GJB2 gene mutation was with significant difference (χ2 = 75.132, p = 0.000) between audio-no-pass group (417/1315, 31.711%) and random-selected cohort (159/1000, 15.900%); c.109G > A was the most common allele, as well as the only one with significantly different allele frequency (χ2 = 79.327, p = 0.000) between audio-no-pass group (392/1315, 16.84%) and random-selected cohort (140/1000, 7.55%), which suggested c.109G > A mutation was critical for newborns’ hearing loss. This study performed detection for such a large scale of deafness-associated genes and for the first time compared mutations between audio-no-pass and random-recruited neonates, which not only provided more reliable DNA diagnosis result for medical practioners and enhanced clinical care for the newborns, but gave more accurate estimation for mutation frequency.