Background:Profoundly deaf children beyond 5 years of age and deaf adults with no prior access to hearing have limited options to learn oral speech.They rely mainly on sign language for communication.This is because,i...Background:Profoundly deaf children beyond 5 years of age and deaf adults with no prior access to hearing have limited options to learn oral speech.They rely mainly on sign language for communication.This is because,in the absence of hearing,the brain of a deaf person is not able to process any feedback of its own speech efforts.Method:We have developed a novel assistive technology that provides visual feedback of speech efforts to the brain of a deaf person learning to speak on a smart phone or computer,in the absence of auditory feedback.We propose that a deaf person with compensatory heightened visual processing skills,should be able to use this visual feedback to develop speech.Results:The first prototype of our novel assistive technology was used on 72 deaf persons(children and adults)attending deaf schools in Delhi.They progressed from speaking no sounds to about 18 sounds in 6 months.Conclusion:Assistive technology using sensory substitution is a promising new approach to help deaf children and adults develop oral speech using visual feedback.More research needs to be carried out in developing this technology further.展开更多
BACKGROUND Auditory verbal hallucinations(AVHs)are believed to be characteristic symptoms of schizophrenia.The prevalence of AVHs in deaf patients with schizophrenia is comparable to that in patients with schizophreni...BACKGROUND Auditory verbal hallucinations(AVHs)are believed to be characteristic symptoms of schizophrenia.The prevalence of AVHs in deaf patients with schizophrenia is comparable to that in patients with schizophrenia who have normal hearing ability.AVHs in deaf patients with schizophrenia require treatment.CASE SUMMARY A 22-year-old deaf woman with schizophrenia had experienced AVHs for 3 months.Her psychotic symptoms were not alleviated by antipsychotic medication alone.Modified electroconvulsive therapy in combination with antipsychotic drugs effectively alleviated her AVHs and disorganized behavior.During outpatient follow-up for 6 months,her condition have remained stable,and she has been able to take care of herself.CONCLUSION Treatment with modified electroconvulsive therapy was found to be safe and might be indicated for deaf patients whose symptoms are not well managed with antipsychotic medication alone.Deaf people might be unable to communicate through spoken language;therefore,to make proper diagnoses and provide appropriate treatment for these patients,psychiatrists must have patience and seek to understand patients’mental state.展开更多
BACKGROUND Wolfram syndrome is a rare autosomal recessive genetic disorder characterized by early-onset diabetes and progressive neurodegeneration,most notably sensorineural hearing loss and optic atrophy.Because its ...BACKGROUND Wolfram syndrome is a rare autosomal recessive genetic disorder characterized by early-onset diabetes and progressive neurodegeneration,most notably sensorineural hearing loss and optic atrophy.Because its initial manifestations are usually similar to those of type 1 diabetes,the diagnosis may be delayed until other manifestations appear.Pathogenic variations of the WFS1 gene can disrupt endoplasmic reticulum function and cellular homeostasis,but the complete mutation spectrum of WFS1 has not been fully determined.Early identification of monogenic diabetes caused by Wolfram syndrome is of vital importance,as it enables the provision of targeted multidisciplinary care and genetic counseling for affected families.CASE SUMMARY A 2-year-old Han Chinese girl was admitted with a 1-month history of polydipsia,polyuria,and polyphagia,and was diagnosed with diabetic ketoacidosis and impaired insulin secretion.Sensorineural hearing loss was also detected.Wholeexome sequencing identified a previously unreported heterozygous mutation,WFS1 c.986T>C(p.Phe329Ser),in the patient and her father,confirming the diagnosis of Wolfram syndrome.Bioinformatic analysis supported the likely pathogenicity of this mutation.In silico pathogenicity predictors(REVEL,SIFT,Poly-Phen-2,MutationTaster,and GERP+)supported a deleterious effect on wolframin structure and function.The patient was initially treated with intravenous insulin and fluid resuscitation,then transitioned to a basal–bolus insulin regimen.Glycemic control was subsequently maintained with continuous subcutaneous insulin infusion and intermittent subcutaneous injections.At the 1-and 6-month follow-ups,blood glucose remained well controlled(hemoglobin A1c:5.89%and 6.58%,respectively),with no evidence of organ dysfunction or further complications.CONCLUSION This case identifies WFS1 c.986T>C(p.Phe329Ser)as a novel pathogenic variant causing Wolfram syndrome.It highlights the importance of early genetic testing in pediatric patients with atypical diabetes presentations to enable timely diagnosis,individualized therapy,and comprehensive family support.展开更多
BACKGROUND Managing sudden deafness(SD)in patients with diabetes mellitus(DM)is partic-ularly challenging due to the heightened risk of adverse effects associated with systemic drug administration.This study explores ...BACKGROUND Managing sudden deafness(SD)in patients with diabetes mellitus(DM)is partic-ularly challenging due to the heightened risk of adverse effects associated with systemic drug administration.This study explores the potential of retroauricular subperiosteal injection as a localized drug delivery method for a more effective and safe treatment.AIM To compare the efficacy of retroauricular subperiosteal injection vs systemic intravenous glucocorticoid(GC)administration for SD in patients with DM and assess the effects on blood glucose levels.METHODS A total of 128 cases of type 2 DM(T2DM)with SD diagnosed and treated in Zibo Central Hospital from February 2021 to July 2023 were divided into two groups:An observation group(66 cases receiving retroauricular subperiosteal injection of methylprednisolone)and a control group(62 cases receiving systemic intravenous administration of methylprednisolone).The two groups were compared in terms of therapeutic efficacy,hearing recovery,blood glucose level changes,and incidence of adverse reactions.Binary logistic regression was used to analyze the factors affecting therapeutic efficacy.RESULTS The observation group showed a significantly higher total effective rate(90.91%)compared with the control group(75.81%,P<0.05).Additionally,pure-tone hearing threshold,fasting plasma glucose,and 2-hour postprandial blood glucose were significantly lower in the observation group compared with the control group(P<0.05).The incidence of adverse reactions was also lower in the observation group than in the control group(7.58%vs 22.58%,P<0.05).A T2DM course longer than 5 years and systemic intravenous GC administration were identified as independent risk factors for treatment inefficacy(P<0.05).INTRODUCTION Sudden deafness(SD)is a clinical emergency characterized by rapid-onset hearing loss that is often accompanied by clinical symptoms such as tinnitus and vertigo[1].Although its pathogenesis remains unclear,it is supposedly associated with factors,including inner ear microcirculation disorders,autoimmune diseases,and viral infections[2,3].Patients with diabetes are particularly susceptible to microvascular complications due to poor long-term glycemic control,affecting the ear’s microcirculation,subsequently increasing the risk of SD[4].Type 2 diabetes mellitus(T2DM),a chronic metabolic disease,causes multiple microvascular damages throughout the body,complicating SD treatment in patients with diabetes[5,6].Inner ear microcirculation disturbances in patients with diabetes may exacerbate the risk of SD,and its pathological process may be related to vascular endothelial dysfunction,inflammatory reactions,and hemorrhological changes caused by diabetes mellitus(DM)[7].Current SD treatments include glucocorticoids(GCs),vasodilators,and hyperbaric oxygen therapy[8].GCs are widely used due to their anti-inflammatory and immunosuppressive effects[9].However,systemic GCs may cause blood glucose(BG)fluctuations and even increase the risk of complications in patients with DM,limiting their clinical use in this population[10].Therefore,there is a compelling and immediate need for a local alternative solution that minimally affects the metabolic mechanisms.In recent years,retroauricular subperiosteal injection has emerged as a localized administration modality for treating SD[11].This method allows drugs to directly act on the inner ear,avoiding the side effects of systemic administration and having a minor impact on BG levels,providing a potentially effective treatment for patients with diabetes[12].However,there is limited clinical evidence to compare the efficacy and glycaemic effects of retroauricular subperiosteal injection vs systemic intravenous GC administration in patients with SD and diabetes.This study aimed to explore the efficacy of retroauricular subperiosteal injection and systemic intravenous GC administration for treating patients with SD and DM and their effects on BG,providing a safer and more effective clinical treatment approach.展开更多
Purpose: To analyze the effect of right versus left long-term single-sided deafness(SSD) on sound source localization(SSL), discuss the necessity of intervention and treatment for SSD patients, and analyze the therape...Purpose: To analyze the effect of right versus left long-term single-sided deafness(SSD) on sound source localization(SSL), discuss the necessity of intervention and treatment for SSD patients, and analyze the therapeutic effect of long-term unilateral cochlear implantation(UCI) from the perspective of SSL.Methods: This study included 25 patients with SSD, 11 patients with UCI, and 30 participants with normal hearing(NH). Their SSL ability was tested by obtaining their average root mean square(RMS) error values of SSL test.Results: The results showed that the RMS error value of SSD, UCI and NH groups were 52.26 ± 20.25°, 69.84 ±12.14° and 4.27 ± 2.66°, respectively. The ability of SSL was better in the SSD-L group than that in the SSD-R group, and no significant difference existed in the SSD-R and the UCI group.Conclusion: When bilateral deafness patients select unilateral treatment, right-side cochlear implantation may be more beneficial in terms of SSL, which means that the central auditory cortex in long-term SSD patients is affected differently based on which side their deafness occurs.展开更多
While mental health issues are increasingly gaining attention in Ghana, little is known about the situation among deaf people. This study assessed the mental health care needs of deaf people in Ghana. A descriptive de...While mental health issues are increasingly gaining attention in Ghana, little is known about the situation among deaf people. This study assessed the mental health care needs of deaf people in Ghana. A descriptive design, consisting of interviews and focus group discussions, was used to collect data from 97 participants. Findings indicated that participants had limited knowledge on mental health issues. Mental health stigma, inaccessible mental health information and exclusion from mental health programmes were the major barriers hindering access to mental health care services. This study bridges the knowledge gap and provides evidence for the implementation of deaf-friendly services.展开更多
In this paper,we combine the teaching and learning situation of deaf and hard-of-hearing students in the Linear Algebra course of the Computer Science and Technology major at the Nanjing Normal University of Special E...In this paper,we combine the teaching and learning situation of deaf and hard-of-hearing students in the Linear Algebra course of the Computer Science and Technology major at the Nanjing Normal University of Special Education.Based on the cognitive style of deaf and hard-of-hearing students,we apply example induction,exhaustive induction,and mathematical induction to the teaching of Linear Algebra by utilizing specific course content.The aim is to design comprehensive teaching that caters to the cognitive style characteristics of deaf and hard-of-hearing students,strengthen their mathematical thinking styles such as quantitative thinking,algorithmic thinking,symbolic thinking,visual thinking,logical thinking,and creative thinking,and enhance the effectiveness of classroom teaching and learning outcomes in Linear Algebra for deaf and hard-of-hearing students.展开更多
Objective To compare the difference in the clinical efficacy on the different frequency hearing damages for the patients with sudden deafness between the comprehensive therapy of electroacupuncture and western medicin...Objective To compare the difference in the clinical efficacy on the different frequency hearing damages for the patients with sudden deafness between the comprehensive therapy of electroacupuncture and western medicine and the simple western medicine comprehensive therapy. Methods Fifty-eight cases were randomized into an acupuncture plus medication group （28 cases, 32 damaged ears） and a western medicine group （30 cases, 34 damaged ears）. In the acupuncture plus medication group, the comprehensive therapy of electroacupuncture and western medicine was used. The main points were ěrmén （耳门 TE 21）, Tīnggōng （听宫 SI 19）, Tīnghuì （听会 GB 2）, Yìfēng （翳风 TE 17）, etc. The western medicine therapy was the comprehensive treatment with vasodilators, the medicines for promoting nerve function and releasing inner ear edema and hyperbaric oxygen. In the western medicine group, the western medicine comprehensive therapy was adopted. 10-day treatment made one session. Two sessions of treatment were required. In 1 or 2 sessions of treatment, the efficacy was observed, the electric audiometry was evaluated. Additionally, the blood routine and liver and kidney functions were detected. Results The total effective rate was 50.0% （16/32） in the acupuncture ＋ medication group and was 55.9% （19/34） in the western medicine group. The efficacies were similar between the two groups （P〉0.05）. In 1 and 2 sessions of treatment, at 250 Hz, 500 Hz and 1 kHz, the electric audiometry values in either group were recovered significantly as compared with those before treatment （all P〈0.01）. At 2 kHz, in 1 and 2 sessions of treatment, the improvements of the electric audiometry values were significant as compared with those before treatment in the acupuncture plus medication group separately （P〈0.05, P〈0.01）. At 4 kHz, the differences were not significant statistically before and after treatment in either group （all P〉0.05）. There were no abnormalities in the blood routine and liver and kidney function detections before and after treatment in either group. Conclusion Either the comprehensive therapy of electroacupuncture and western medicine or the simple western medicine comprehensive therapy is effective in the treatment of low frequency hearing damage of sudden deafness. Either of them has no effect on high frequency hearing damage. But for the middle frequency hearing damage, the efficacy of the comprehensive therapy of electroacupuncture and western medicine is superior to that of the simple western medicine comprehensive therapy.展开更多
An important concern with the deaf community is inability to hear partially or totally. This may affect the development of language during childhood, which limits their habitual existence. Consequently to facilitate s...An important concern with the deaf community is inability to hear partially or totally. This may affect the development of language during childhood, which limits their habitual existence. Consequently to facilitate such deaf speakers through certain assistive mechanism, an effort has been taken to understand the acoustic characteristics of deaf speakers by evaluating the territory specific utterances. Speech signals are acquired from 32 normal and 32 deaf speakers by uttering ten Indian native Tamil language words. The speech parameters like pitch, formants, signal-to-noise ratio, energy, intensity, jitter and shimmer are analyzed. From the results, it has been observed that the acoustic characteristics of deaf speakers differ significantly and their quantitative measure dominates the normal speakers for the words considered. The study also reveals that the informative part of speech in a normal and deaf speakers may be identified using the acoustic features. In addition, these attributes may be used for differential corrections of deaf speaker’s speech signal and facilitate listeners to understand the conveyed information.展开更多
Extrapontine myelinolysis and pure word deafness are very uncommon disorders.Here,we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness...Extrapontine myelinolysis and pure word deafness are very uncommon disorders.Here,we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness.As a consequence of rapid correction of hyponatremia,the patient demonstrated an initial onset of cortical deafness,and then progressed to generalized auditory agnosia,which eventually developed into confined verbal auditory agnosia(pure word deafness) .Bilateral extrapontine myelinolysis was confirmed using brain magnetic resonance imaging.This case suggests that verbal and nonverbal stimuli may involve separate thalamocortical pathways.展开更多
Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junct...Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.展开更多
Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without he...Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without hearing impairment and hearing disorders family history were selected. The informed consent was signed. Peripheral blood was taken to extract genom- ic DNA. Application of genetic deafness gene chip for detecting 9 mutational hot spot of the most common 4 Chinese deafness genes, namely GJB2 （35delG, 176del16bp, 235delC, 299delAT）, GJB3 （C538T） ,SLC26A4 （ IVS72A〉G, A2168G） and mito- chondrial DNA 12S rRNA （A1555G, C1494T） . Further genetic testing were provided to the spouses and newborns of the screened carriers. Results Peripheral blood of 430 pregnant women were detected, detection of deafness gene mutation carri- ers in 24 cases（4.2%）, including 13 cases of the GJB2 heterozygous mutation, 3 cases of SLC26A4 heterozygous mutation, 1 cases of GJB3 heterozygous mutation, and 1 case of mitochondrial 12S rRNA mutation. 18 spouses and 17 newborns took further genetic tests, and 6 newborns inherited the mutation from their mother. Conclusion The common deafness genes muta- tion has a high carrier rate in pregnant women group, 235delC and IVS7-2A〉G heterozygous mutations are common.展开更多
The current use of hearing aids and artificial cochleas for deaf-mute individuals depends on their auditory nerve. Skin-hearing technology, a patented system developed by our group, uses a cutaneous sensory nerve to s...The current use of hearing aids and artificial cochleas for deaf-mute individuals depends on their auditory nerve. Skin-hearing technology, a patented system developed by our group, uses a cutaneous sensory nerve to substitute for the auditory nerve to help deaf-mutes to hear sound. This paper introduces a new solution, multi-channel-array skin-hearing technology, to solve the problem of speech discrimination. Based on the filtering principle of hair cells, external voice sig- nals at different frequencies are converted to current signals at corresponding frequencies using electronic multi-channel bandpass filtering technology. Different positions on the skin can be stimulated by the electrode array, allowing the perception and discrimination of external speech signals to be determined by the skin response to the current signals. Through voice frequen- cy analysis, the frequency range of the band-pass filter can also be determined. These findings demonstrate that the sensory nerves in the skin can help to transfer the voice signal and to dis- tinguish the speech signal, suggesting that the skin sensory nerves are good candidates for the replacement of the auditory nerve in addressing deaf-mutes＇ hearing problems. Scientific hearing experiments can be more safely performed on the skin. Compared with the artificial cochlea, multi-channel-array skin-hearing aids have lower operation risk in use, are cheaper and are more easily popularized.展开更多
Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In Ch...Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible.展开更多
BACKGROUND To summarize the clinical characteristics of acute cerebral infarction(ACI)in patients with sudden deafness(SD)as the first symptom,improve the awareness of the disease,and help diagnosis and treatment.CASE...BACKGROUND To summarize the clinical characteristics of acute cerebral infarction(ACI)in patients with sudden deafness(SD)as the first symptom,improve the awareness of the disease,and help diagnosis and treatment.CASE SUMMARY From 2019 to 2020,three patients with ACI with SD as the first symptom were admitted to our hospital.Pure tone audiometry,head magnetic resonance imaging(MRI),vertebral artery and carotid artery B-ultrasound,head and neck computed tomography angiography,and other examinations were performed.Following the treatment of SD,hearing and dizziness were not significantly improved.Then,the patients developed symptoms of related cranial nerve injury,and brain MRI showed cerebral infarction in the cerebellopontine angle area.All three cases were transferred to the neurology department for relevant conservative treatment.CONCLUSION Patients with ACI with SD as the first symptom usually attend the otolaryngology clinic.Here a diagnosis of SD,which is based on an audiological examination,is made and the corresponding treatment is administered.To reduce the misdiagnosis of this disease,close attention should be paid to the changes in the patient's clinical symptoms and related auxiliary examinations should be performed,such as brain MRI and cerebrovascular imaging.Otolaryngologists should pay attention to the type and severity of hearing loss,the accompanying symptoms,age,high-risk factors for cerebral infarction,and related cranial nerve symptoms in patients with SD.If the patient's early brain MRI does not show abnormalities,monitoring remains essential.The head MRI should be analyzed quickly based on the changes in the symptoms of the patient,to make an accurate diagnosis and provide the timely and correct treatment for the patients.展开更多
文摘Background:Profoundly deaf children beyond 5 years of age and deaf adults with no prior access to hearing have limited options to learn oral speech.They rely mainly on sign language for communication.This is because,in the absence of hearing,the brain of a deaf person is not able to process any feedback of its own speech efforts.Method:We have developed a novel assistive technology that provides visual feedback of speech efforts to the brain of a deaf person learning to speak on a smart phone or computer,in the absence of auditory feedback.We propose that a deaf person with compensatory heightened visual processing skills,should be able to use this visual feedback to develop speech.Results:The first prototype of our novel assistive technology was used on 72 deaf persons(children and adults)attending deaf schools in Delhi.They progressed from speaking no sounds to about 18 sounds in 6 months.Conclusion:Assistive technology using sensory substitution is a promising new approach to help deaf children and adults develop oral speech using visual feedback.More research needs to be carried out in developing this technology further.
基金the Doctoral Startup Fund of the Second Affiliated Hospital of Xinxiang Medical University.
文摘BACKGROUND Auditory verbal hallucinations(AVHs)are believed to be characteristic symptoms of schizophrenia.The prevalence of AVHs in deaf patients with schizophrenia is comparable to that in patients with schizophrenia who have normal hearing ability.AVHs in deaf patients with schizophrenia require treatment.CASE SUMMARY A 22-year-old deaf woman with schizophrenia had experienced AVHs for 3 months.Her psychotic symptoms were not alleviated by antipsychotic medication alone.Modified electroconvulsive therapy in combination with antipsychotic drugs effectively alleviated her AVHs and disorganized behavior.During outpatient follow-up for 6 months,her condition have remained stable,and she has been able to take care of herself.CONCLUSION Treatment with modified electroconvulsive therapy was found to be safe and might be indicated for deaf patients whose symptoms are not well managed with antipsychotic medication alone.Deaf people might be unable to communicate through spoken language;therefore,to make proper diagnoses and provide appropriate treatment for these patients,psychiatrists must have patience and seek to understand patients’mental state.
基金Supported by Beijing Holistic Integrative Medicine Association Clinical Research Funding Program,No.ZHKY-2024-2209.
文摘BACKGROUND Wolfram syndrome is a rare autosomal recessive genetic disorder characterized by early-onset diabetes and progressive neurodegeneration,most notably sensorineural hearing loss and optic atrophy.Because its initial manifestations are usually similar to those of type 1 diabetes,the diagnosis may be delayed until other manifestations appear.Pathogenic variations of the WFS1 gene can disrupt endoplasmic reticulum function and cellular homeostasis,but the complete mutation spectrum of WFS1 has not been fully determined.Early identification of monogenic diabetes caused by Wolfram syndrome is of vital importance,as it enables the provision of targeted multidisciplinary care and genetic counseling for affected families.CASE SUMMARY A 2-year-old Han Chinese girl was admitted with a 1-month history of polydipsia,polyuria,and polyphagia,and was diagnosed with diabetic ketoacidosis and impaired insulin secretion.Sensorineural hearing loss was also detected.Wholeexome sequencing identified a previously unreported heterozygous mutation,WFS1 c.986T>C(p.Phe329Ser),in the patient and her father,confirming the diagnosis of Wolfram syndrome.Bioinformatic analysis supported the likely pathogenicity of this mutation.In silico pathogenicity predictors(REVEL,SIFT,Poly-Phen-2,MutationTaster,and GERP+)supported a deleterious effect on wolframin structure and function.The patient was initially treated with intravenous insulin and fluid resuscitation,then transitioned to a basal–bolus insulin regimen.Glycemic control was subsequently maintained with continuous subcutaneous insulin infusion and intermittent subcutaneous injections.At the 1-and 6-month follow-ups,blood glucose remained well controlled(hemoglobin A1c:5.89%and 6.58%,respectively),with no evidence of organ dysfunction or further complications.CONCLUSION This case identifies WFS1 c.986T>C(p.Phe329Ser)as a novel pathogenic variant causing Wolfram syndrome.It highlights the importance of early genetic testing in pediatric patients with atypical diabetes presentations to enable timely diagnosis,individualized therapy,and comprehensive family support.
文摘BACKGROUND Managing sudden deafness(SD)in patients with diabetes mellitus(DM)is partic-ularly challenging due to the heightened risk of adverse effects associated with systemic drug administration.This study explores the potential of retroauricular subperiosteal injection as a localized drug delivery method for a more effective and safe treatment.AIM To compare the efficacy of retroauricular subperiosteal injection vs systemic intravenous glucocorticoid(GC)administration for SD in patients with DM and assess the effects on blood glucose levels.METHODS A total of 128 cases of type 2 DM(T2DM)with SD diagnosed and treated in Zibo Central Hospital from February 2021 to July 2023 were divided into two groups:An observation group(66 cases receiving retroauricular subperiosteal injection of methylprednisolone)and a control group(62 cases receiving systemic intravenous administration of methylprednisolone).The two groups were compared in terms of therapeutic efficacy,hearing recovery,blood glucose level changes,and incidence of adverse reactions.Binary logistic regression was used to analyze the factors affecting therapeutic efficacy.RESULTS The observation group showed a significantly higher total effective rate(90.91%)compared with the control group(75.81%,P<0.05).Additionally,pure-tone hearing threshold,fasting plasma glucose,and 2-hour postprandial blood glucose were significantly lower in the observation group compared with the control group(P<0.05).The incidence of adverse reactions was also lower in the observation group than in the control group(7.58%vs 22.58%,P<0.05).A T2DM course longer than 5 years and systemic intravenous GC administration were identified as independent risk factors for treatment inefficacy(P<0.05).INTRODUCTION Sudden deafness(SD)is a clinical emergency characterized by rapid-onset hearing loss that is often accompanied by clinical symptoms such as tinnitus and vertigo[1].Although its pathogenesis remains unclear,it is supposedly associated with factors,including inner ear microcirculation disorders,autoimmune diseases,and viral infections[2,3].Patients with diabetes are particularly susceptible to microvascular complications due to poor long-term glycemic control,affecting the ear’s microcirculation,subsequently increasing the risk of SD[4].Type 2 diabetes mellitus(T2DM),a chronic metabolic disease,causes multiple microvascular damages throughout the body,complicating SD treatment in patients with diabetes[5,6].Inner ear microcirculation disturbances in patients with diabetes may exacerbate the risk of SD,and its pathological process may be related to vascular endothelial dysfunction,inflammatory reactions,and hemorrhological changes caused by diabetes mellitus(DM)[7].Current SD treatments include glucocorticoids(GCs),vasodilators,and hyperbaric oxygen therapy[8].GCs are widely used due to their anti-inflammatory and immunosuppressive effects[9].However,systemic GCs may cause blood glucose(BG)fluctuations and even increase the risk of complications in patients with DM,limiting their clinical use in this population[10].Therefore,there is a compelling and immediate need for a local alternative solution that minimally affects the metabolic mechanisms.In recent years,retroauricular subperiosteal injection has emerged as a localized administration modality for treating SD[11].This method allows drugs to directly act on the inner ear,avoiding the side effects of systemic administration and having a minor impact on BG levels,providing a potentially effective treatment for patients with diabetes[12].However,there is limited clinical evidence to compare the efficacy and glycaemic effects of retroauricular subperiosteal injection vs systemic intravenous GC administration in patients with SD and diabetes.This study aimed to explore the efficacy of retroauricular subperiosteal injection and systemic intravenous GC administration for treating patients with SD and DM and their effects on BG,providing a safer and more effective clinical treatment approach.
基金supported by the National Key Research and Development Project of China(2020YFC20052003 to S.M.Yang)Key International(Regional)Joint Research Program of National Natural Science Foundation of China(NSFC#81820108009 to S.M.Yang)National Natural Science Foundation of China(NSFC#82000976 to J.N.Li).
文摘Purpose: To analyze the effect of right versus left long-term single-sided deafness(SSD) on sound source localization(SSL), discuss the necessity of intervention and treatment for SSD patients, and analyze the therapeutic effect of long-term unilateral cochlear implantation(UCI) from the perspective of SSL.Methods: This study included 25 patients with SSD, 11 patients with UCI, and 30 participants with normal hearing(NH). Their SSL ability was tested by obtaining their average root mean square(RMS) error values of SSL test.Results: The results showed that the RMS error value of SSD, UCI and NH groups were 52.26 ± 20.25°, 69.84 ±12.14° and 4.27 ± 2.66°, respectively. The ability of SSL was better in the SSD-L group than that in the SSD-R group, and no significant difference existed in the SSD-R and the UCI group.Conclusion: When bilateral deafness patients select unilateral treatment, right-side cochlear implantation may be more beneficial in terms of SSL, which means that the central auditory cortex in long-term SSD patients is affected differently based on which side their deafness occurs.
文摘While mental health issues are increasingly gaining attention in Ghana, little is known about the situation among deaf people. This study assessed the mental health care needs of deaf people in Ghana. A descriptive design, consisting of interviews and focus group discussions, was used to collect data from 97 participants. Findings indicated that participants had limited knowledge on mental health issues. Mental health stigma, inaccessible mental health information and exclusion from mental health programmes were the major barriers hindering access to mental health care services. This study bridges the knowledge gap and provides evidence for the implementation of deaf-friendly services.
文摘In this paper,we combine the teaching and learning situation of deaf and hard-of-hearing students in the Linear Algebra course of the Computer Science and Technology major at the Nanjing Normal University of Special Education.Based on the cognitive style of deaf and hard-of-hearing students,we apply example induction,exhaustive induction,and mathematical induction to the teaching of Linear Algebra by utilizing specific course content.The aim is to design comprehensive teaching that caters to the cognitive style characteristics of deaf and hard-of-hearing students,strengthen their mathematical thinking styles such as quantitative thinking,algorithmic thinking,symbolic thinking,visual thinking,logical thinking,and creative thinking,and enhance the effectiveness of classroom teaching and learning outcomes in Linear Algebra for deaf and hard-of-hearing students.
文摘Objective To compare the difference in the clinical efficacy on the different frequency hearing damages for the patients with sudden deafness between the comprehensive therapy of electroacupuncture and western medicine and the simple western medicine comprehensive therapy. Methods Fifty-eight cases were randomized into an acupuncture plus medication group （28 cases, 32 damaged ears） and a western medicine group （30 cases, 34 damaged ears）. In the acupuncture plus medication group, the comprehensive therapy of electroacupuncture and western medicine was used. The main points were ěrmén （耳门 TE 21）, Tīnggōng （听宫 SI 19）, Tīnghuì （听会 GB 2）, Yìfēng （翳风 TE 17）, etc. The western medicine therapy was the comprehensive treatment with vasodilators, the medicines for promoting nerve function and releasing inner ear edema and hyperbaric oxygen. In the western medicine group, the western medicine comprehensive therapy was adopted. 10-day treatment made one session. Two sessions of treatment were required. In 1 or 2 sessions of treatment, the efficacy was observed, the electric audiometry was evaluated. Additionally, the blood routine and liver and kidney functions were detected. Results The total effective rate was 50.0% （16/32） in the acupuncture ＋ medication group and was 55.9% （19/34） in the western medicine group. The efficacies were similar between the two groups （P〉0.05）. In 1 and 2 sessions of treatment, at 250 Hz, 500 Hz and 1 kHz, the electric audiometry values in either group were recovered significantly as compared with those before treatment （all P〈0.01）. At 2 kHz, in 1 and 2 sessions of treatment, the improvements of the electric audiometry values were significant as compared with those before treatment in the acupuncture plus medication group separately （P〈0.05, P〈0.01）. At 4 kHz, the differences were not significant statistically before and after treatment in either group （all P〉0.05）. There were no abnormalities in the blood routine and liver and kidney function detections before and after treatment in either group. Conclusion Either the comprehensive therapy of electroacupuncture and western medicine or the simple western medicine comprehensive therapy is effective in the treatment of low frequency hearing damage of sudden deafness. Either of them has no effect on high frequency hearing damage. But for the middle frequency hearing damage, the efficacy of the comprehensive therapy of electroacupuncture and western medicine is superior to that of the simple western medicine comprehensive therapy.
文摘An important concern with the deaf community is inability to hear partially or totally. This may affect the development of language during childhood, which limits their habitual existence. Consequently to facilitate such deaf speakers through certain assistive mechanism, an effort has been taken to understand the acoustic characteristics of deaf speakers by evaluating the territory specific utterances. Speech signals are acquired from 32 normal and 32 deaf speakers by uttering ten Indian native Tamil language words. The speech parameters like pitch, formants, signal-to-noise ratio, energy, intensity, jitter and shimmer are analyzed. From the results, it has been observed that the acoustic characteristics of deaf speakers differ significantly and their quantitative measure dominates the normal speakers for the words considered. The study also reveals that the informative part of speech in a normal and deaf speakers may be identified using the acoustic features. In addition, these attributes may be used for differential corrections of deaf speaker’s speech signal and facilitate listeners to understand the conveyed information.
基金Project supported by the Science Research Foundation of the Ministry of Health of China(No.WKJ2010-2-009)the Science and Technology Department of Zhejiang Province(No.2007C33007)+1 种基金the Key Project of Education Department of Zhejiang Province(No.Z2008 05185)the Natural Science Foundation of Zhejiang Province(No. Y2080132),China
文摘Extrapontine myelinolysis and pure word deafness are very uncommon disorders.Here,we report a case of a 19-year-old woman who suffered from osmotic demyelination syndrome with coincidence of typical pure word deafness.As a consequence of rapid correction of hyponatremia,the patient demonstrated an initial onset of cortical deafness,and then progressed to generalized auditory agnosia,which eventually developed into confined verbal auditory agnosia(pure word deafness) .Bilateral extrapontine myelinolysis was confirmed using brain magnetic resonance imaging.This case suggests that verbal and nonverbal stimuli may involve separate thalamocortical pathways.
基金supported by grants from the National Institutes of Health/National Institute on Deafness and Other Communication Disorders to Xuezhong Liu (R01 DC05575,R01 DC01246,2P50DC000422-Sub-Project 6432,and R01 DC012115)the University of Pretoria RDP grant and the South African ENT Society Research Grant to RI Kabahuma
文摘Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.
文摘Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without hearing impairment and hearing disorders family history were selected. The informed consent was signed. Peripheral blood was taken to extract genom- ic DNA. Application of genetic deafness gene chip for detecting 9 mutational hot spot of the most common 4 Chinese deafness genes, namely GJB2 （35delG, 176del16bp, 235delC, 299delAT）, GJB3 （C538T） ,SLC26A4 （ IVS72A〉G, A2168G） and mito- chondrial DNA 12S rRNA （A1555G, C1494T） . Further genetic testing were provided to the spouses and newborns of the screened carriers. Results Peripheral blood of 430 pregnant women were detected, detection of deafness gene mutation carri- ers in 24 cases（4.2%）, including 13 cases of the GJB2 heterozygous mutation, 3 cases of SLC26A4 heterozygous mutation, 1 cases of GJB3 heterozygous mutation, and 1 case of mitochondrial 12S rRNA mutation. 18 spouses and 17 newborns took further genetic tests, and 6 newborns inherited the mutation from their mother. Conclusion The common deafness genes muta- tion has a high carrier rate in pregnant women group, 235delC and IVS7-2A〉G heterozygous mutations are common.
基金supported by the National Natural Science Foundation of China,No.60672001Special Fund of Education Department of Shaanxi Province,China,No.05JC03
文摘The current use of hearing aids and artificial cochleas for deaf-mute individuals depends on their auditory nerve. Skin-hearing technology, a patented system developed by our group, uses a cutaneous sensory nerve to substitute for the auditory nerve to help deaf-mutes to hear sound. This paper introduces a new solution, multi-channel-array skin-hearing technology, to solve the problem of speech discrimination. Based on the filtering principle of hair cells, external voice sig- nals at different frequencies are converted to current signals at corresponding frequencies using electronic multi-channel bandpass filtering technology. Different positions on the skin can be stimulated by the electrode array, allowing the perception and discrimination of external speech signals to be determined by the skin response to the current signals. Through voice frequen- cy analysis, the frequency range of the band-pass filter can also be determined. These findings demonstrate that the sensory nerves in the skin can help to transfer the voice signal and to dis- tinguish the speech signal, suggesting that the skin sensory nerves are good candidates for the replacement of the auditory nerve in addressing deaf-mutes＇ hearing problems. Scientific hearing experiments can be more safely performed on the skin. Compared with the artificial cochlea, multi-channel-array skin-hearing aids have lower operation risk in use, are cheaper and are more easily popularized.
基金This work was supported by the Chinese National Nature Science Foundation research Grant 30572015Beijing Nature Science Foundation research Grant 7062062.
文摘Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible.
文摘BACKGROUND To summarize the clinical characteristics of acute cerebral infarction(ACI)in patients with sudden deafness(SD)as the first symptom,improve the awareness of the disease,and help diagnosis and treatment.CASE SUMMARY From 2019 to 2020,three patients with ACI with SD as the first symptom were admitted to our hospital.Pure tone audiometry,head magnetic resonance imaging(MRI),vertebral artery and carotid artery B-ultrasound,head and neck computed tomography angiography,and other examinations were performed.Following the treatment of SD,hearing and dizziness were not significantly improved.Then,the patients developed symptoms of related cranial nerve injury,and brain MRI showed cerebral infarction in the cerebellopontine angle area.All three cases were transferred to the neurology department for relevant conservative treatment.CONCLUSION Patients with ACI with SD as the first symptom usually attend the otolaryngology clinic.Here a diagnosis of SD,which is based on an audiological examination,is made and the corresponding treatment is administered.To reduce the misdiagnosis of this disease,close attention should be paid to the changes in the patient's clinical symptoms and related auxiliary examinations should be performed,such as brain MRI and cerebrovascular imaging.Otolaryngologists should pay attention to the type and severity of hearing loss,the accompanying symptoms,age,high-risk factors for cerebral infarction,and related cranial nerve symptoms in patients with SD.If the patient's early brain MRI does not show abnormalities,monitoring remains essential.The head MRI should be analyzed quickly based on the changes in the symptoms of the patient,to make an accurate diagnosis and provide the timely and correct treatment for the patients.
