Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome

ABSTRACT We present the case of a 37-year-old woman who underwent bilateral penetrating keratoplasty for congenital hereditary endothelial dystrophy at the age of 10 years. Over the subsequent 27 years, the patient's vision slowly deteriorated. Our examination revealed decompensation of the right corneal graft. We addressed this with regraft surgery. We then learned that the patient had been suffering from progressive hearing loss since adolescence. Tonal audiometry revealed hearing per ceptive deafness of 25 dB, which was more prominent in the left ear. Because the patterns of progressive sensorineural hearing loss and congenital hereditary endothelial dystrophy have both been linked to the same gene, slc4a11, we tested our patient for mutations in this gene. The test was positive for a heterozygous slc4a11 gene fifth exon mutation on chromosome 20p13-p12, which causes a frameshift. A combined clinical and genetic evaluation confirmed a diagnosis of Harboyan syndrome. After the genetic diagnosis of the disease, she was evaluated for the need for a hearing aid due to her hearing loss. The patient was also informed about genetic counseling.

Meningitis e hipoacusia neurosensorial por Rickettsia sp. en Perú: reporte de caso / Meningitis and neurosensory hypoacousia due to Rickettsia sp. in Peru: case report

RESUMEN Se presenta el caso de una mujer joven, trabajadora de salud, residente en una región altoandina del Perú, con exposición reciente a animales de granja y artrópodos, que presenta síndrome febril agudo indiferenciado, trombocitopenia severa y extravasación pulmonar y abdominal. Posteriormente desarrolla meningitis e hipoacusia neurosensorial bilateral de instalación temprana y muestra serología reactiva a infección aguda por Rickettsias sp. Se discuten las consideraciones epidemiológicas y clínicas en el diagnóstico diferencial para un manejo oportuno.

ABSTRACT We present the case of a young female health worker, resident in a high Andean region of Peru, with recent exposure to farm animals and arthropods, who developed acute febrile undifferentiated syndrome, severe thrombocytopenia and pulmonary and abdominal extravasation. Subsequently, the patient developed meningitis and early onset bilateral neurosensorial hypoacusis and showed reactive serology to acute infection by Rickettsia sp. Epidemiological and clinical considerations in the differential diagnosis for early management are discussed.

Analysis of the Influence of Seasonal and Meteorological Factors on the Incidence of Sudden Sensorineural Hearing Loss in Shenzhen / 听力学及言语疾病杂志

Objective To investigate the impact of seasonal and meteorological factors on the incidence of sudden sensorineural hearing loss(SSNHL)in Shenzhen area and provide a reference for the prevention of the dis-ease.Methods The data of patients with SSNHL who visited our hospital between March 2017～February 2021 were collected.The local temperature and humidity data at the time of onset were analyzed.The incidence of SSNHL under different seasons and meteorological conditions were counted to explore the correlation among sea-sons,meteorological conditions and the incidence of SSNHL.Results A total of 579 cases were included.The dis-tribution trend of cases in the four seasons was summer＞autumn＞spring＞winter,and the time distribution trend was that the number of sick cases increases year by year.Under different onset season,the incidence of SSNHL in summer was positively correlated with temperature(mean temperature,maximum temperature and minimum tem-perature)(r=0.153,r=0.1444,r=0.15,P＜0.05).The mean temperature,maximum temperature,minimum temperature and relative humidity were positively correlated with the frequency distribution of hearing loss in pa-tients with SSNHL(P＜0.05).Conclusion Summer is the peak season for patients with SSNHL in Shenzhen,and the season,temperature,relative humidity have an impact on the incidence of SSNHL and the frequency distribution of hearing loss.

The effectiveness of salvage treatment with intratympanic dexamethasone or hyperbaric oxygen therapy in addition to systemic steroids on idiopathic sudden sensorineural hearing loss / 中国药师

Objective To investigate the clinical efficacy of intratympanic corticosteroids(ITS)and hyperbaric oxygen therapy(HBOT)in patients with idiopathic sudden sensorineural hearing loss(ISSNHL)who had failed systemic corticosteroid(SS)treatment.Methods ISSNHL patients admitted to the Department of Otolaryngology,First People's Hospital of Linping District of Hangzhou city from January 2020 to January 2023 were retrospectively collected.According to the treatment plan,patients with ISSNHL were divided into SS group,HBOT group,and ITS group.The changes in hearing level[purity hearing threshold mean(PTA)]and hearing gain of ISSNHL patients before treatment(T0),day 5(T1)and after 3 months of treatment(T2)were observed and compared,and the total effective rate of treatment in different groups was compared.Univariate analysis was used to explore the influencing factors of the efficacy of patients with different treatment modalities of ISSNHL.Results A total of 156 ISSNHL patients were included,including 70 in the SS group,33 in the HBOT group and 53 in the ITS group.At T0,there was no significant difference in PTA among the three groups of patients(P>0.05).At T2,the level of PTA in the three groups of ISSNHL patients was significantly lower than that before treatment(P<0.05).The levels of PTA in the HBOT group and ITS group were significantly lower than those in the SS group(P<0.05).The level of PTA in the HBOT group was significantly lower than that in the ITS group(P<0.05).The hearing gain of the HBOT group and the ITS group was significantly higher than that of the SS group(P<0.05),and the hearing gain of the HBOT group was significantly higher than that of the ITS group(P<0.05).The total effective rate of HBOT group was significantly higher than that of ITS group(P<0.05),and the total effective rate of ITS group was significantly higher than that of SS group(P<0.05).In addition,vertigo was an influencing factor for poor hearing recovery in ISSNHL patients regardless of treatment regimen(P<0.05).Conclusion Both ITS and HBOT can improve the treatment efficiency of ISSNHL patients who have failed SS treatment and promote hearing recovery in ISSNHL.Compared with IST,HBOT has more significant efficacy,and it is recommended that clinical treatment be prioritized.Vertigo is an influencing factor for poor hearing recovery in patients with ISSNHL who have failed SS treatment,and should be focused on in clinical practice.

Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report / 临床耳鼻咽喉头颈外科杂志

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

Development of Chinese herbal medicine for sensorineural hearing loss

According to the World Health Organization's world report on hearing, nearly 2.5 billion people worldwide will suffer from hearing loss by 2050, which may contribute to a severe impact on individual life quality and national economies. Sensorineural hearing loss (SNHL) occurs commonly as a result of noise exposure, aging, and ototoxic drugs, and is pathologically characterized by the impairment of mechanosensory hair cells of the inner ear, which is mainly triggered by reactive oxygen species accumulation, inflammation, and mitochondrial dysfunction. Though recent advances have been made in understanding the ability of cochlear repair and regeneration, there are still no effective therapeutic drugs for SNHL. Chinese herbal medicine which is widely distributed and easily accessible in China has demonstrated a unique curative effect against SNHL with higher safety and lower cost compared with Western medicine. Herein we present trends in research for Chinese herbal medicine for the treatment of SNHL, and elucidate their molecular mechanisms of action, to pave the way for further research and development of novel effective drugs in this field.

The potential relationship between uric acid and the recovery in sudden sensorineural hearing loss

Abstract Objective Serum uric acid is proven to be associated with chronic hearing loss, but its effect on Sudden Sensorineural Hearing Loss (SSNHL) is unclear. This study aims to evaluate the prognostic values of serum uric acid levels in SSNHL patients. Methods The clinical records of SSNHL patients were retrospectively reviewed. Patients were divided into different groups based on hearing recovery and audiogram type, and uric acid levels were compared. Based on uric acid levels, patients were categorized into normouricemia and hyperuricemia groups, and clinical features and hearing recovery were evaluated. Univariate and multivariate analyses were performed to identify prognostic factors. Results In total, 520 SSNHL patients were included in this study, including 226 females and 294 males. In female patients, 186 patients were included in the normouricemia group, and 40 patients were enrolled in the hyperuricemia group. Significant differences were observed in uric acid levels, Total Cholesterol (TC), rate of complete recovery, and slight recovery between the two groups. In male patients, 237 subjects were categorized into the normouricemia group, and 57 patients were included in the hyperuricemia group. The rate of complete recovery and slight recovery was lower in the hyperuricemia group compared to the normouricemia group. All patients were further divided into good recovery and poor recovery groups based on hearing outcomes. The uric acid levels, initial hearing threshold, rate of hyperuricemia, and TC were lower in the good recovery group than the poor recovery group both in female and male patients. Binary logistic regression results showed that uric acid levels, initial hearing threshold, and hyperuricemia were associated with hearing recovery. Conclusion Hyperuricemia might be an independent risk factor for hearing recovery in SSNHL patients. Serum uric acid and initial hearing threshold possibly affected the hearing outcome in males and females with SSNHL. Level of evidence Level 4.

Hipoacusia en el síndrome de Vogt-Koyanagi-Harada: reporte de caso y revisión de la literatura / Hearing loss in Vogt-Koyanagi-Harada syndrome: case report and literature review

El síndrome de Vogt-Koyanagi-Harada (VKH) es una rara enfermedad granulomatosa multisistémica caracterizada por aparición de panuveítis grave bilateral y desprendimiento seroso de retina; puede acompañarse de un amplio espectro de síntomas extraoculares como los auditivos, y la afección más frecuente es la hipoacusia neurosensorial. Su etiología se reconoce como respuesta autoinmune mediada por células T contra antígenos de melanocitos presentes en coroides, meninges, cóclea y piel. Asimismo, factores genéticos del huésped se han identificado como predisponentes para su aparición, y es la presencia del alelo HLA-DR4, en particular el subtipo HLA-DRB1 0405, el más estudiado hasta la fecha. El tratamiento se basa en administración de corticosteroides sistémicos en dosis altas, sin embargo, es escasa la evidencia que evalúa específicamente la eficacia de estos medicamentos sobre sus manifestaciones audiovestibulares. Este artículo expone un caso de síndrome de VKH con compromiso auditivo concomitante y realiza una breve revisión narrativa de la literatura.

Vogt-Koyanagi-Harada syndrome (VKHS) is a rare multisystemic granulomatous disease, characterized by severe bilateral panuveitis and serous retinal detachment; it can be associated with a wide spectrum of extraocular symptoms, such as auditory symptoms, and the most common condition is sensorineural hearing loss. Its etio-logy is recognized as a T-cell-mediated autoimmune response against melanocyte antigens present in the choroid, meninges, cochlea, and skin. Likewise, host genetic factors have been identified as predisposing for its development, specifically the pre-sence of the HLA-DR4 allele, the HLA-DRB1 0405 subtype is the most studied up to date. Treatment is based on the administration of high doses of systemic corticos-teroids, however, there is not much evidence that specifically evaluates the efficacy of these medications on their audiovestibular manifestations. This article presents a clinical case of VKH syndrome with concomitant hearing impairment and carries out a short narrative review of the literature.

Temporal Ordering and Auditory Resolution in Individuals with Sensorineural Hearing Loss

Abstract Introduction Peripheral hearing loss, besides causing inadequate auditory input, can lead to distortions in the tonotopic auditory map and reorganization of neural networks. Therefore, the processing of temporal aspects of a sound stimulus and, consequently, the effectiveness of human communication can be negatively impacted. Objective To test the temporal ordering and auditory resolution of people with mild and moderate sensorineural hearing loss and to compare them with the those of people with normal hearing. Methods A total of 19 right-handed individuals aged 16 to 59 years with mild to moderate postlingually acquired symmetric bilateral sensorineural hearing loss participated in the study. They were submitted to frequency and duration pattern tests and a random gap detection test. Results The mean correct response rate in the frequency pattern test was of 66.3%, and, in the duration pattern test, 71.7%. The mean threshold in the random gap detection test was of 14.1 ms. A comparison with the criteria established for normal subjects without peripheral hearing loss revealed that more than half the subjects had abnormal results in the temporal ordering test, while a smaller fraction had reduced temporal resolution. Conclusions The performance of the subjects with acquired sensorineural hearing loss was poorer than that of the participants without peripheral hearing loss. Their results on the temporal ordering test were also poorer than in the temporal resolution test, demonstrating the importance of analyzing both these auditory skills in people with peripheral hearing loss.

New variants of ALMS1 gene and familial Alström syndrome case series

Abstract Objectives To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome. Report This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene. Conclusion This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.

Hearing assessment in mobile phone users

Background: Mobile phones have become an indispensable part of today's modern world. But with various day-to-day benefits, mobile phones also bring detrimental effects on the health of users. Ear being the closest organ in contact with phones, faces maximum effect of electromagnetic waves generated by them. Chronic exposure to these waves and sounds can result in permanent hearing loss. Hence, the present study was done to assess the association between hearing loss and duration of mobile usage. Methods: This cross-sectional study was conducted on mobile phone users between the age group of 20 and 40 years in the Department of ENT, Rajindra Hospital, Patiala over 6 months (1 August 2022 to 31 January 2023). 600 volunteers were involved and divided into three groups based on the duration of mobile phone usage. Pure tone audiometry and DPOAE were used to assess the hearing loss in these subjects. Results: A variable degree of hearing loss was observed on PTA and DPOAE in all three groups with a significant association between hearing loss and the duration of mobile phone usage. A higher proportion of sensorineural hearing loss was observed in the group with mobile phone usage of more than 1 hour per day for a minimum of 4 years as compared to those who used them for <1 hour per day for a minimum of 4 years and control group (p=0.001) which was significant statistically. Conclusions: People using mobile phones for long hours are at higher risk of developing hearing loss, especially in the dominant ear.

Brazilian Society of Otology task force - Otosclerosis: evaluation and treatment

Abstract Objectives: To review and provide evidence-based recommendations for the diagnosis and treatment of otosclerosis. Methods: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on otosclerosis were eligible for inclusion. The American College of Physicians' guideline grading system and the American Thyroid Association's guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. Results: The topics were divided into 2 parts: 1) Diagnosis - audiologic and radiologic; 2) Treatment - hearing AIDS, pharmacological therapy, stapes surgery, and implantable devices - bone-anchored devices, active middle ear implants, and Cochlear Implants (CI). Conclusions: The pathophysiology of otosclerosis has not yet been fully elucidated, but environmental factors and unidentified genes are likely to play a significant role in it. Women with otosclerosis are not at increased risk of worsening clinical condition due to the use of contraceptives or during pregnancy. Drug treatment has shown little benefit. If the patient does not want to undergo stapedotomy, the use of hearing aids is well indicated. Implantable systems should be indicated only in rare cases, and the CI should be indicated in cases of profound deafness.

The Role of Metabolic Syndrome Components in Sensorineural Hearing Loss in Adolescents: A Case-Control Study

Abstract Introduction Metabolic syndrome (MetS) and its associated components were reported as a possible cause of inner ear dysfunction. However, research about the influence of cardiovascular risk factors on hearing thresholds are conducted mainly in adult patients. Objective The aim of the present study was to investigate auditory function in adolescents with MetS compared with healthy controls. Methods One hundred adolescents with metabolic syndrome and 200 sex- and age-matched controls were recruited from a university pediatric endocrine clinic from May 2018 to July 2020. Hearing loss was defined as hearing level ≥ 15 dB at speech frequency (SFHL) or high frequency (HFHL) in one or both ears. A multivariable conditional logistic regression analysis examined the correlation between MetS components and several important demographic characteristics, and hearing loss. Results A total of 165 (55.0%) boys and 135 (45.0%) girls participated in this study. The rates of SFHL and HFHL in adolescents with MetS were 32.0% and 51.0%, respectively. Those values for controls were 5.0% and 15.5%, respectively. The regression analysis showed high triglycerides as a significant predictor for SFHL (odds ratio 10.87; 95% confidence interval: 1.98, 59.74). Neither predictor of interest was significant for HFHL. Conclusion Hypertriglyceridemia may be an important factor in the pathogenesis of SFHL. However, the strength of the association was not significant with a wide confidence interval. Also, we were unable to find an association between predictors and HFHL with the current sample size. Larger and prospective studies are recommended.

Correlation between value of Hba1c and degree of sensorineural hearing loss in type 2 diabetics

Background: Diabetes mellitus and hearing loss are common public health problems. Sensorineural hearing loss in Type 2 diabetes mellitus patients is an underestimated complication. The aim was to study the correlation between level of HbA1c and degree of sensorineural hearing loss. Methods: It was a cross sectional study carried on 130 known cases of T2DM, aged 25-50 years. Various confounding factors such as coexisting hypertension, ear disease, ototoxic drug intake, any neuropathic disorder was excluded in advance. All patients underwent clinical ear examination and pure tone audiometry test. Their level of HbA1c was measured. This value of HbA1c was correlated with the hearing threshold. Results: Out of 130, 58 subjects had normal hearing while 72 had hearing impairment. Among subjects (72 out of 130) having hearing impairment, significant correlation (p-value 0.035 for right ear and 0.029 for left ear) between hearing threshold and HbA1c was found. Also, level of HbA1c significantly (p-value 0.049) correlated with degree of hearing loss. Conclusions: Hearing loss is an underestimated complication of T2DM. This needs to be addressed with periodic hearing assessment of diabetes patients.

Correlation between cerebral small vessel disease and sudden sensorineural hearing loss / 国际脑血管病杂志

Objective:To investigate the relationship between the overall burden score of cerebral small vessel disease (CSVD) and sudden sensorineural hearing loss (SSNHL) and its severity.Methods:Patients with SSNHL admitted to Zhengzhou People’s Hospital from January 2019 to June 2022 were used as the case group, and age- and gender-matched patients with tension headache or benign positional vertigo were used as the control group. MRI was used to evaluate the phenotype of CSVD, including white matter hyperintensities (WMHs), cerebral microbleeds (CMBs), enlarged perivascular spaces (EPVS), and lacune of presumed vascular origin, and then the total burden score of CSVD was calculated. Multivariate logistic regression analysis was used to determine the independent factors of SSNHL. Ordinal logistic regression analysis was used to investigate the relationship between the overall burden of CSVD and the severity of hearing loss in patients with SSNHL. Results:A total of 86 patients with SSNHL and 90 age- and gender-matched controls were included. There were statistically significant differences in triglycerides, high-density lipoprotein cholesterol, fasting blood glucose levels, WMHs overall score classification, periventricular WMHs score classification, deep WMHs score classification, CMBs, moderate to severe EPVS, CSVD overall burden score and classification between the two groups (all P<0.05). Multivariate logistic regression analysis showed that after adjusting for high-density lipoprotein cholesterol, fasting blood glucose ≥6.1 mmol/L (odds ratio [ OR] 2.149, 95% confidence interval [ CI] 1.042-4.432; P=0.038), triglycerides ≥1.7 mmol/L ( OR 7.012, 95% CI 2.962-16.597; P=0.000), CSVD overall burden score >1 (compared to 0 point, 2 points: OR 4.095, 95% CI 1.364-12.291, P=0.012; 3 points: OR 5.776, 95% CI 1.888-17.614, P=0.002; 4 points: OR 7.900, 95% CI 2.526-24.706; P=0.000) were significantly independently correlated with SSNHL. Ordinal logistic regression analysis showed that after adjusting for age and fasting blood glucose, the flat decline type hearing loss ( OR 1.276, 95% CI 1.131-1.618; P=0.044) and total deafness type hearing loss ( OR 1.029, 95% CI 1.002-1.058; P=0.038), and the overall burden of CSVD being moderate ( OR 1.318, 95% CI 1.036-1.677; P=0.025) and severe ( OR 2.330, 95% CI 1.232-4.406; P=0.009) were significantly independent associated with the degree of hearing loss in patients with SSNHL. Conclusion:The CSVD total burden score of moderate to severe degree is independently associated with SSNHL and the degree of hearing loss.

An analysis of the risk factors for cerebral small vessel disease burden in middle-aged and elderly patients with sudden sensorineural hearing loss / 中风与神经疾病杂志

@#Objective To examine the risk factors for increased burden of cerebral small vessel diseases （CSVD） in middle-aged and elderly patients with sudden sensorineural hearing loss （SSNHL）. Methods The data were retrospectively collected from middle-aged and elderly patients who were admitted to the hospital due to SSNHL between May 2019 and May 2023. The patients were analyzed for their clinical manifestations，hearing test results，and radiological features. All enrolled patients were assessed for total CSVD burden，and patients with varying degrees of burdens （0，1，2，and ≥3 points） were compared for their differences in the clinical features and hearing features. Ordinal logistic regression was conducted to identify the independent risk factors for increased total CSVD burden in middle-aged and elderly patients with SSNHL. Results A total of 206 patients with SSNHL were enrolled，including 94 males and 112 females，with an average age of（58.70±7.98）years. The numbers of patients with a total CSVD burden of 0、1、2，and ≥3 points were 108（52.4%），54 （26.2%），29（14.0%），and 15 （7.2%），respectively. Univariate analysis showed significant differences between different CSVD burden groups in age，hypertension status，history of drinking，low-density lipoprotein >3.1 mmol/L，and presence of dizziness at the onset of disease（P<0.05）. Logistic regression analysis demonstrated that aging （OR=1.050；95%CI 1.023-1.077），hypertension（OR=1.584；95%CI 1.036-2.422），history of drinking（OR=2.304；95%CI 1.415-3.754），and presence of dizziness at the onset of disease（OR=1.691；95%CI 1.085-2.637）were independent risk factors for increased CSVD burden in SSNHL patients aged 45 years and above. Conclusion Aging，hypertension，history of drinking，and dizziness at the onset of disease are independent risk factors for increased CSVD burden in middle-aged and elderly patients with SSNHL. Clinicians should conduct radiological evaluations on these patients to identify patients with CSVD at an early stage.

Townes-Brocks syndrome caused by de novo mutation in spalt-like transcription factor 1 gene: a case report and literature review / 中华围产医学杂志

Objective:To summarize the clinical features and gene variations in children with Townes-Brocks syndrome (TBS).Methods:The clinical data of a female infant diagnosed with TBS caused by human spalt-like transcription factor 1 ( SALL1) gene mutation in Gansu Maternal and Child Health Hospital in May 2022 were analyzed retrospectively. Relevant articles up to July 2022 were retrieved from several databases including CNKI, VIP, Wanfang, Chinese Medical Journal Network and PubMed with the terms of " SALL1 gene" and "Townes-Brocks syndrome". Patients diagnosed with TBS caused by SALL1 gene mutation were retrieved and the clinical phenotype-genotype correlations in patients with TBS caused by frameshift mutation in SALL1 gene were analyzed and summarized. Descriptive statistical analysis was applied. Results:(1) Clinical data: The index patient was a 40-day-old girl exhibiting major clinical manifestations of polycystic kidney dysplasia, congenital external ear deformity, preaxial polydactyly and recto-perineal fistula. Whole exome sequencing and Sanger sequencing revealed a heterozygous variation of c.420delC (p.S141fs*42) in the SALL1 gene, while the same gene was found to be wild type in her parents and sister. The variant was predicted to be pathogenic (PVS1+PS2+PM2). (2) Literature review retrieved 161 cases of TBS, of which 71 were attributable to a frameshift mutation in SALL1 gene. Clinical phenotypes of the 71 cases and the index case were summarized. TBS was mainly characterized by external ear, hand and anal deformities, sometimes accompanied by hearing loss, abnormal kidney development and foot deformity. A small number of affected cases presented with rare clinical phenotypes such as abnormal eyes, hypothyroidism and abnormal development. At present, the human gene mutation database records 110 variations in the SALL1 gene, with a majority located in exon 2. The most common mutation type was frameshift variation, accounting for 52%, followed by missense variation and nonsense variation. Conclusion:TBS should be considered in children with ear, hand and anal malformations, accompanied by renal dysfunction and hearing loss, and genetic testing is recommended for timely diagnosis.

Three Cases with High-Tone Sensorineural Hearing Loss Successfully Treated with a Kampo Formulation Daisaikoto / 日本東洋医学雑誌

Neuro-otologic disease (e.g. hearing loss, tinnitus, dizziness) are often difficult to treat because their mechanisms and causes are not fully understood and Western medical approaches are limited. This time, we report 3 cases with high-tone sensorineural hearing loss successfully treated with a Kampo formulation daisaikoto. When high-tone sensorineural hearing loss remains after treatment of acute sensorineural deafness, or for high-tone acute sensorineural deafness, a Kampo medicine approach including abdominal patterns has the potential to improve hearing as well as comorbid symptoms such as tinnitus.

Application value of auditory steady-state response combined with auditory brainstem response for hearing assessment in children with sensorineural hearing loss / 中国基层医药

Objective:To investigate the application value of auditory steady-state response (ASSR) combined with short sound auditory brainstem response (ABR) for hearing assessment in children with sensorineural hearing impairment, providing evidence for clinical diagnosis of the disorder.Methods:A total of 90 children with sensorineural hearing impairment who received treatment at Jiaxing Maternity and Child Health Care Hospital from January 2020 to June 2021 were included in this prospective study. These children were randomly divided into a control group and an observation group ( n = 45 per group). The children in the control group underwent ABR testing, while those in the observation group underwent ASSR testing in addition to ABR thresholds testing. The hearing impairment was compared between the two groups. The ABR and ASSR thresholds were compared among children with different degrees of hearing impairment. The correlation between ABR and ASSR at 2 and 4 kHz carrier frequencies was analyzed in the observation group. Results:The abnormal rate of hearing in the observation group was 68.89% (31/45), which was significantly higher than 44.44% (20/45) in the control group ( χ2 = 5.48, P = 0.019). At a carrier frequency of 0.5 kHz, the ASSR thresholds of children with moderate and severe hearing impairment in the observation group were (63.11 ± 6.82) dB nHL and (84.65 ± 5.31) dB nHL, respectively, which were significantly higher than the ABS thresholds (56.12 ± 4.63) dB nHL and (76.87 ± 5.15) dB nHL ( t = 2.94, 2.78, both P < 0.05). There was a positive correlation between ABR and ASSR thresholds at 2 and 4 kHz carrier frequencies in children with different degrees of hearing impairment in the observation group ( r = 0.896, 0.901, both P < 0.05). Conclusion:The combination of ABR and ASSR testings is more accurate in judging the degree of hearing impairment in children with sensorineural hearing impairment than the ABR testing, and can provide a reliable basis for later clinical treatment.

Lack of methylation changes in GJB2 and RB1 non-coding regions of cochlear implant patients with sensorineural hearing loss

Objective@#Recent advances in epigenetic studies continue to reveal novel mechanisms of gene regulation and control, however little is known on the role of epigenetics in sensorineural hearing loss (SNHL) in humans. We aimed to investigate the methylation patterns of two regions, one in RB1 and another in GJB2 in Filipino patients with SNHL compared to hearing control individuals. @*Methods@#We investigated an RB1 promoter region that was previously identified as differentially methylated in children with SNHL and lead exposure. Additionally, we investigated a sequence in an enhancer-like region within GJB2 that contains four CpGs in close proximity. Bisulfite conversion was performed on salivary DNA samples from 15 children with SNHL and 45 unrelated ethnically-matched individuals. We then performed methylation-specific real-time PCR analysis (qMSP) using TaqMan® probes to determine percentage methylation of the two regions. @*Results@#Using qMSP, both our cases and controls had zero methylation at the targeted GJB2 and RB1 regions. @*Conclusion@#Our study showed no changes in methylation at the selected CpG regions in RB1 and GJB2 in the two comparison groups with or without SNHL. This may be due to a lack of environmental exposures to these target regions. Other epigenetic marks may be present around these regions as well as those of other HL-associated genes.