scholarly journals The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Mengge Yang ◽  
Lusi Xu ◽  
Chunmei Xu ◽  
Yuying Cui ◽  
Shan Jiang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Features ◽  
Peripheral Blood ◽  
Common Mutation ◽  
Mitochondrial Mutations ◽  
China National Knowledge Infrastructure ◽  
Mitochondrial Diabetes ◽  
Onset Of Diabetes ◽  
Spearman Test ◽  
Inherited Diabetes

AimsTo investigate the clinical features and mitochondrial mutations for maternally inherited diabetes and deafness.MethodsPubMed, Embase, Medline, Web of Science, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: “Maternally inherited diabetes and deafness” OR “MIDD” OR “Mitochondrial diabetes”. The mutations and clinical features were analyzed. Correlation between the heteroplasmy levels of the m.3243A>G mutation in the peripheral blood and age at the onset of diabetes was conducted by Spearman test. The significance level was set as p < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences version 26 for Windows.ResultsTotally 161 patients with 21 different mitochondrial mutations were enrolled. The most common mutation was the m.3243A>G mutation in 136 cases. Of 142 patients, 120 (84.51%) had family histories of diabetes or hearing loss. Hearing loss presented in 85.71% of the patients with mitochondrial mutations. Central nervous system diseases were found in 29.19%, myopathy in 22.98%, oculopathy in 23.60%, cardiac disease in 23.60%, and nephropathy in 13.66% of the patients. Forty-two of 101 (41.58%) patients were underweight. A significant negative correlation was found between the heteroplasmy levels of the m.3243A>G mutation in the peripheral blood and age at the onset of diabetes.ConclusionsThe young onset of diabetes with low or normal BMI, maternal inheritance, and presence of impairments of multiple systems should prompt a genetic testing in order to differentiate MIDD from other types of diabetes earlier.

scholarly journals Sudden sensorineural hearing loss in patients with vestibular schwannoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Koichiro Wasano ◽  
Naoki Oishi ◽  
Masaru Noguchi ◽  
Ko Hentona ◽  
Seiichi Shinden ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Features ◽  
Vestibular Schwannoma ◽  
Recovery Rate ◽  
Treatment Plan ◽  
Full Range ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Recurrence Time

AbstractClinical features of sudden sensorineural hearing loss (SSNHL) associated with vestibular schwannoma (VS) are not fully understood. Determining a treatment plan and explaining it to patients requires clinicians to clearly understand the clinical features related to the tumor, including SSNHL. To identify the full range of clinical features of VS-associated SSNHL, especially recovery of hearing following multiple episodes of SSNHL and what factors predict recovery and recurrence. A multicenter retrospective chart review was conducted in seven tertiary care hospitals between April 1, 2011, and March 31, 2020. We collected and analyzed dose of administered steroid, pure-tone audiometry results, and brain MRIs of patients diagnosed with VS-associated SSNHL. Seventy-seven patients were included. They experienced 109 episodes of audiogram-confirmed SSNHL. The highest proportion of complete recoveries occurred in patients with U-shaped audiograms. The recovery rates for the first, second, and third and subsequent episodes of SSNHL were 53.5%, 28.0%, and 9.1%, respectively. Recovery rate decreased significantly with increasing number of SSNHL episodes (P =0 .0011; Cochran-Armitage test). After the first episode of SSNHL, the recurrence-free rate was 69.9% over 1 year and 57.7% over 2 years; the median recurrence time was 32 months. Logarithmic approximation revealed that there is a 25% probability that SSNHL would recur within a year. SSNHL in patients with VS is likely to recur within one year in 25% of cases. Also, recovery rate decreases as a patient experiences increasing episodes of SSNHL.

scholarly journals Excision of Greater Superficial Petrosal Nerve Schwannoma Via a Pure Endoscopic Endonasal Approach

2021 ◽  
pp. 014556132110263
Author(s):  
Zhenlin Wang ◽  
Siyuan Zhang ◽  
Yan Qi ◽  
Lianjie Cao ◽  
Pu Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Features ◽  
Middle Cranial Fossa ◽  
Nerve Sheath Tumor ◽  
Endoscopic Endonasal Approach ◽  
Endonasal Approach ◽  
Endoscopic Endonasal ◽  
Greater Superficial Petrosal Nerve ◽  
Clinical Records

Greater superficial petrosal nerve (GSPN) schwannomas are an exceedingly rare nerve sheath tumor. The current literature search was conducted using Medline and Embase database by key search terms. Only 31 cases have been reported in the literature so far. Facial palsy, hearing loss, and xerophthalmia accounted for 48.4% (15), 41.9% (13), and 29% (9) of all cases, respectively. The middle cranial fossa approach was used in all previous reports. A retrospective review of 2 GSPN schwannomas patients treated by endoscopic endonasal approach (EEA) in our center was collected. Clinical records, including clinical features, pre- and postoperative images, surgery, and follow-up information, were reviewed. In all cases, clinical features including facial numbness and headache were found, with tinnitus in case 1, hearing loss, xerophthalmia in case 2. Imaging studies showed a solid mass that originated in the anterior of the petrous bone. Two patients were treated by EEA. Furthermore, no recurrence was found during the follow-up period (15-29 months) in both of the 2 cases after the operation. Complete resection of GSPN schwannomas can be achieved via the pure EEA. Endoscopic endonasal approach for radical removal of tumors is safe and feasible.

Clinical features and prognostic factors of pediatric idiopathic sudden hearing loss from moderate to profound degree

2021 ◽  
Vol 42 (5) ◽  
pp. 103027
Author(s):  
Yi Wang ◽  
Tongli Ren ◽  
Jianghua Jing ◽  
Na Gao ◽  
Hui Zhao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Prognostic Factors ◽  
Clinical Features ◽  
Sudden Hearing Loss

scholarly journals Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 715 ◽  
Author(s):  
Sugiyama ◽  
Moteki ◽  
Kitajiri ◽  
Kitano ◽  
Nishio ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
Copy Number Variations ◽  
Clinical Feature ◽  
Single Nucleotide Variants ◽  
Characteristic Clinical Feature ◽  
Or Gene ◽  
Homozygous Deletions

The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in Japanese patients with hearing loss. Furthermore, the clinical features of OTOA-associated hearing loss have not yet been clarified. In this study, we performed CNV analyses of a large Japanese hearing loss cohort, and identified CNVs in 234 of 2262 (10.3%, 234/2262) patients with autosomal recessive hearing loss. Among the identified CNVs, OTOA gene-related CNVs were the second most frequent (0.6%, 14/2262). Among the 14 cases, 2 individuals carried OTOA homozygous deletions, 4 carried heterozygous deletions with single nucleotide variants (SNVs) in another allele. Additionally, 1 individual with homozygous SNVs in the OTOA gene was also identified. Finally, we identified 7 probands with OTOA-associated hearing loss, so that its prevalence in Japanese patients with autosomal recessive hearing loss was calculated to be 0.3% (7/2262). As novel clinical features identified in this study, the audiometric configurations of patients with OTOA-associated hearing loss were found to be mid-frequency. This is the first study focused on the detailed clinical features of hearing loss caused by this gene mutation and/or gene deletion.

scholarly journals Clinical Features and Prognosis of Sudden Sensorineural Hearing Loss Secondary to Intralabyrinthine Hemorrhage

2016 ◽  
Vol 20 (1) ◽  
pp. 31 ◽  
Author(s):  
Jae Woo Lee ◽  
Yoon Ah Park ◽  
Sang Man Park ◽  
Tae Hoon Kong ◽  
Sang Yoo Park ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Features ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing

scholarly journals Myelopathy and adult T-cell leukemia associated with HTLV-1 in a young patient with hearing loss as the initial manifestation of disease

2009 ◽  
Vol 42 (3) ◽  
pp. 336-337 ◽  
Author(s):  
Denise Utsch Gonçalves ◽  
Lílian Felipe ◽  
Anna Bárbara Carneiro-Proietti ◽  
Antônio Carlos Guedes ◽  
Olindo Assis Martins-Filho ◽  
...  
Keyword(s):  
Hearing Loss ◽  
T Cell ◽  
Neurological Examination ◽  
Facial Palsy ◽  
Peripheral Blood ◽  
Cervical Lymphadenopathy ◽  
Young Male ◽  
Cell Leukemia ◽  
Initial Manifestation ◽  
Adult T Cell Leukemia

A young male developed hearing loss, vertigo, headache and facial palsy. Neurological examination did not show any abnormalities. Two years later, cervical lymphadenopathy, hepatosplenomegaly and atypical lymphocytes in peripheral blood revealed leukemia. At the same time, acquired ichthyosis was observed. Subsequently, neurological abnormalities revealed myelopathy associated with HTLV-1, due to vertical transmission.

Sign in / Sign up

Export Citation Format

Share Document