We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing ...impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM_000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.
Epstein syndrome is a rare disease characterized by macrothrombocytopenia, nephritis and progressive sensorineural hearing loss (SNHL). This syndrome is presently recognized as an autosomal dominant ...disease caused by mutations of non-muscle myosin heavy chain 9 (MYH9). Little information is available about the progress of SNHL, the efficacy of cochlear implants (CI) or the perioperative management of thrombocytopenia in patients with Epstein syndrome. We herein report a case of a patient with Epstein syndrome with the MYH9:c.2105G>A:p.R702H variant who underwent cochlear implantation after 27 years of follow-up for her progressive SNHL. The deterioration rates of hearing were 3.48 dB/year on the right ear and 2.46 dB/year on the left ear. The patient derived benefits from CI and had a speech recognition test result (for sentences) of 93% at 6-months postoperatively. Thrombocytopenia was successfully managed without any bleeding complications by using eltrombopag, an oral thrombopoietic agent, making transfusion of platelets unnecessary. The accurate diagnosis of Epstein syndrome was made only after long-term follow-up as the thrombocytopenia was initially diagnosed as idiopathic thrombocytopenic purpura. This case report highlights the perioperative management of thrombocytopenia, the progress of SNHL and the potential pitfalls of diagnosis.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
This paper summarizes the results of recent gas-hydrate studies in Lake Baikal, the only fresh-water lake in the world containing gas hydrates in its sedimentary infill. We provide a historical ...overview of the different investigations and discoveries and highlight some recent breakthroughs in our understanding of the Baikal hydrate system. So far, 21 sites of gas hydrate occurrence have been discovered. Gas hydrates are of structures I and II, which are of thermogenic, microbial, and mixed origin. At the 15 sites, gas hydrates were found in mud volcanoes, and the rest six – near gas discharges. Additionally, depending on type of discharge and gas hydrate structure, they were visually different. Investigations using MIR submersibles allowed finding of gas hydrates at the bottom surface of Lake Baikal at the three sites.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Conclusion Cochlear implantation (CI) for Japanese single-sided deafness patients resulted in improved speech perception, increased sound localization accuracy, and reduced tinnitus handicap. ...Objectives This study reports results for five adult SSD cases with CI, focusing on the benefits they obtained in terms of speech recognition, sound localization, and tinnitus handicap. Methods Five Japanese patients meeting the eligibility criteria were included in this study. All patients were implanted with a fully inserted MED-EL Concerto FLEX28® implant (MED-EL, Innsbruck, Austria). Speech perception outcomes in noise, as well as sound localization and tinnitus disturbance, were assessed pre-surgically and at 1, 3, 6, and 12 months after CI activation. Results The Japanese monosyllable test score in noise improved gradually after implantation. In some cases, speech perception ability appeared unstable, particularly in the first 1-6 months after implantation. The sound localization ability showed marked improvement in all cases, with the disturbance to daily life caused by tinnitus also decreasing in all cases from the early post-operative period.
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DOBA, IJS, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK, VSZLJ
We performed mutation analysis in a Japanese family segregating autosomal dominant non-syndromic hearing loss. We identified a heterozygous missense mutation in the TECTA gene in a 40-year old male ...member and his 69-year old mother. The mutation was located in the zona pellucida domain in the encoded alpha-tectorin. Genotype-phenotype correlations of TECTA missense mutations have been established: missense mutations in the zona pellucida domain cause hearing loss with a saucer type of audiogram; if amino acid residues other than cysteine are affected, the hearing loss is stable. The 40-year-old man showed sensorineural hearing loss with a saucer type of audiogram, while his mother showed sensorineural hearing loss with a descending type of audiogram. Since her previous audiogram obtained when she was aged 52 years showed sensorineural hearing loss with a saucer type of audiogram, it was speculated that her hearing thresholds at high frequencies increased with age, resulting in the descending type of audiogram. In addition, the annual threshold deterioration at middle frequencies was 0.5dB/year in the mother, consistent with the established phenotype-genotype correlations. These results indicate that hearing thresholds at high frequencies may increase with age, especially in elderly subjects with TECTA mutations affecting amino acid residues other than cysteine.
The occurrence of unilateral sensorineural hearing loss (SNHL) during school age is relatively rare and accounts for approximately 6% of all deafness in childhood. We present two cases involving ...children who were diagnosed with SNHL associated with Sjögren's syndrome (SS). Case 1: An eight-year-old girl with an approximately two-year clinical history of gradual hearing loss was diagnosed with SNHL associated with SS based on histological findings of inflammation in the salivary glands and the presence of serum anti-Sjögren's syndrome-A antibody. Case 2: An eight-year-old boy with acute idiopathic thrombocytopenic purpura in whom unilateral hearing loss, which was not associated with any problems in daily life, was detected during hospitalization and who was finally diagnosed with SNHL and SS. Steroid treatment was ineffective for both patients. The previously unrecognized combination of SNHL with SS should be considered in the diagnosis of unilateral SNHL, even in children.
Hearing impairment is one of the most common sensory disorders that affect ~1 in 1000 children, and half of them are considered to be hereditary. Information about the carrier frequencies of ...mutations that underlie autosomal recessive disorders is indispensable for accurate genetic counseling to predict the probability of patients' children's disease. However, there have been few reports specific to the Japanese population. GJB2 mutations are reported to be the most frequent cause of hereditary hearing loss, and the mutation spectrum and frequency of GJB2 mutations were reported to vary among different ethnic groups. In this study, we investigated the carrier frequency of GJB2 mutations and the mutation spectrum in 509 individuals randomly selected from the general Japanese population. We show that the carrier frequencies of the two most common pathogenic mutations are 1.57% (8/509) for c.235delC and 1.77% (9/509) for p.Val37Ile. In addition to these mutations, we found two pathogenic variants (p.Gly45Glu;Tyr136* and p.Arg143Trp), and the total carrier frequency was estimated to be around 3.73% (19/509). We also detected six unclassified variants, including two novel variants (p.Cys60Tyr and p.Phe106Leu), with the former predicted to be pathogenic. These findings will provide indispensable information for genetic counseling in the Japanese population.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Aims
The aim of the present study was to clarify the relationships between the duration of diabetes and the current statuses of diabetes in elderly (aged ≥65 years) patients with type 2 diabetes.
...Methods
Clinical characteristics were cross‐sectionally examined in 1436 patients (684 elderly and 752 non‐elderly) with type 2 diabetes.
Results
As the duration of diabetes increased, the patients' age, frequency of receiving insulin therapy and glycated hemoglobin value increased in both the elderly and non‐elderly groups, whereas the urinary C‐peptide immunoreactivity and glomerular filtration rate decreased. The duration of diabetes (years) was significantly associated with the prevalence of diabetic retinopathy (OR 1.05, 95% CI 1.03–1.07, P < 0.01), nephropathy (OR 1.03, 95% CI 1.01–1.05, P < 0.01) and neuropathy (OR 1.08, 95% CI 1.05–1.12, P < 0.01), but not with cerebrovascular disease (OR 1.01, 95% CI 0.99–1.03, P = 0.38), coronary heart disease (OR 1.02, 95% CI 1.00–1.04, P = 0.09) or peripheral artery disease (OR 1.02, 95%CI 0.99–1.05, P = 0.12) in the elderly patients after adjusting for the traditional risk factors of diabetic angiopathies. In contrast, the duration of diabetes showed a significant association with the prevalence of both diabetic micro‐ and macroangiopathies in the non‐elderly patients.
Conclusions
It should be noted that atherosclerotic diseases are present in the clinical setting for the management of elderly diabetic patients independent of the duration of diabetes. Geriatr Gerontol Int 2017; 17: 24–30.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
We aimed to clarify the usefulness of measuring the flow mediated dilatation (FMD) in patients with type 2 diabetes mellitus without and with coronary heart disease (CHD). The FMD was measured in 480 ...patients with type 2 diabetes and in 240 nondiabetic subjects. The FMD was significantly lower in the subjects with CHD (n = 145, 5.4±3.2%) than in those without CHD (n = 95, 6.9±3.5%) among the nondiabetic subjects. The FMD was also lower in the subjects both with CHD (n = 161, 5.6±2.8%) and without CHD (n = 319, 6.1±3.3%) among the patients with diabetes compared to those without both diabetes and CHD. The FMD showed a significant positive correlation with the estimated glomerular filtration rate (eGFR) in the diabetic patients without CHD, while there was no significant association in those with CHD. The FMD was significantly lower with the progressive stages of the GFR or albuminuria in the patients without CHD among those with diabetes, although the FMD was not different in those with CHD. In conclusion, the FMD is considered to be useful for the detection of atherosclerosis in patients with type 2 diabetes, even if overt macroangiopathy is not diagnosed.
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FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK
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