The Patterns of Recurrences in Idiopathic Benign Paroxysmal Positional Vertigo and Self-treatment Evaluation.

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The Patterns of Recurrences in Idiopathic Benign Paroxysmal Positional Vertigo and Self-treatment Evaluation.

Front Neurol. 2017;8:690

Authors: Kim HJ, Kim JS

Abstract
Background and Objectives: Benign paroxysmal positional vertigo (BPPV) recurs frequently. This study aims to determine that each patient with BPPV has a predilection for a specific canal and the type of recurred BPPV can be predicted from that observed during the previous attack.
Methods: The involved side (right, left, and bilateral) and affected canal (posterior, geotropic horizontal, apogeotropic horizontal, anterior, and mixed) were analyzed in 224 pairs of consecutive attacks of BPPV confirmed in 167 patients at the Dizziness Clinic of Seoul National Bundang Hospital from 2003 to 2017. We defined the recurrence when patients had the redevelopment of BPPV at least 1 week after resolution of the previous one.
Results: During the initial attack, the involved canals were posterior in 134 (59.8%), geotropic horizontal in 53 (23.7%), apogeotropic horizontal in 27 (12.1%), anterior in 5 (2.2%), and mixed in 5 (2.2%). The right ear was more commonly affected than the left ear [132 (58.9%) vs. 90 (40.2%)]. Two patients (0.9%) showed bilateral involvements. During the recurrences, the proportions of involved canals and affected side were similar irrespective of those during the former event. Only 24% of the patients showed the recurrence in the same canal on the same side.
Conclusion: The patterns of recurrences are usually discordant in patients with BPPV. Instruction for self-administration of a specific canalith repositioning procedure based on the previous type of BPPV may have a limited efficacy in this frequently recurrent disorder.

PMID: 29326650 [PubMed]

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Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.

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Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease.

Mol Genet Metab Rep. 2018 Mar;14:68-72

Authors: Okada J, Hossain MA, Wu C, Miyajima T, Yanagisawa H, Akiyama K, Eto Y

Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age. Enzyme replacement is the most common therapy for Fabry disease at present which has been approved in Japan since 2004. We report a case involving a 27-year-old male with extreme terminal pain, anhidrosis, abdominal pain, tinnitus, hearing impairment, cornea verticillata, and recurrent huge ulcers in the lower extremities. At the age of 16 years, he was diagnosed with Fabry disease with a positive family history and very low α-gal A activity. He then received enzyme replacement therapy (ERT) with recombinant human agalsidase beta at 1 mg/kg every 2 weeks for 10 years. Throughout the course of ERT, his leg ulcers recurred, and massive excretion of urinary globotriaosylceramide and plasma globotriaosylsphingosine was observed. Electron microscopy of the venous tissue in the regions of the ulcer showed massive typical zebra bodies in the vascular wall smooth muscle cells.

PMID: 29326878 [PubMed]

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Regulation of Fn14 Receptor and NF-κB Underlies Inflammation in Meniere's Disease.

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Regulation of Fn14 Receptor and NF-κB Underlies Inflammation in Meniere's Disease.

Front Immunol. 2017;8:1739

Authors: Frejo L, Requena T, Okawa S, Gallego-Martinez A, Martinez-Bueno M, Aran I, Batuecas-Caletrio A, Benitez-Rosario J, Espinosa-Sanchez JM, Fraile-Rodrigo JJ, García-Arumi AM, González-Aguado R, Marques P, Martin-Sanz E, Perez-Fernandez N, Pérez-Vázquez P, Perez-Garrigues H, Santos-Perez S, Soto-Varela A, Tapia MC, Trinidad-Ruiz G, Del Sol A, Alarcon Riquelme ME, Lopez-Escamez JA

Abstract
Meniere's disease (MD) is a rare disorder characterized by episodic vertigo, sensorineural hearing loss, tinnitus, and aural fullness. It is associated with a fluid imbalance between the secretion of endolymph in the cochlear duct and its reabsorption into the subarachnoid space, leading to an accumulation of endolymph in the inner ear. Epidemiological evidence, including familial aggregation, indicates a genetic contribution and a consistent association with autoimmune diseases (AD). We conducted a case-control study in two phases using an immune genotyping array in a total of 420 patients with bilateral MD and 1,630 controls. We have identified the first locus, at 6p21.33, suggesting an association with bilateral MD [meta-analysis leading signal rs4947296, OR = 2.089 (1.661-2.627); p = 1.39 × 10-09]. Gene expression profiles of homozygous genotype-selected peripheral blood mononuclear cells (PBMCs) demonstrated that this region is a trans-expression quantitative trait locus (eQTL) in PBMCs. Signaling analysis predicted several tumor necrosis factor-related pathways, the TWEAK/Fn14 pathway being the top candidate (p = 2.42 × 10-11). This pathway is involved in the modulation of inflammation in several human AD, including multiple sclerosis, systemic lupus erythematosus, or rheumatoid arthritis. In vitro studies with genotype-selected lymphoblastoid cells from patients with MD suggest that this trans-eQTL may regulate cellular proliferation in lymphoid cells through the TWEAK/Fn14 pathway by increasing the translation of NF-κB. Taken together; these findings suggest that the carriers of the risk genotype may develop an NF-κB-mediated inflammatory response in MD.

PMID: 29326686 [PubMed]

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Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

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Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

J Hum Genet. 2018 Jan 10;:

Authors: Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H

Abstract
SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. Using DNA microarray, Illumina MiSeq, and Ion proton, we carried out gene panel sequencing among 1483 Japanese CMT patients, containing 397 patients with demyelinating CMT. From seven patients with demyelinating CMT, we identified eight recessive variants in the SH3TC2 gene, consisting of five novel (pathogenic/likely pathogenic) and three reported variants. Additionally, from two patients with axonal CMT, we detected a reported recessive variant, p.Arg77Trp, which was herein reclassified as variant with unknown significance. Of the seven CMT4C patients (six females and one male), 2/7 patients developed symptoms at their first decade, and 5/7 patients lost their ambulation around age 50. Scoliosis was observed from more than half (4/7) of these patients, whereas hearing loss is the most common symptom of central nervous system (6/7). No median nerve mononeuropathy was recorded from their family members. We identified recessive variants in SH3TC2 from 1.76% of demyelinating CMT patients. An uncommon gender difference was recognized and the wild spectrum of these variants suggests mutational diversity of SH3TC2 in Japan.

PMID: 29321516 [PubMed - as supplied by publisher]

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Sensitive periods and language in cochlear implant users.

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Sensitive periods and language in cochlear implant users.

J Child Lang. 2016 May;43(3):479-504

Authors: Moreno-Torres I, Madrid-Cánovas S, Blanco-Montañez G

Abstract
This study explores the hypothesis that the existence of a short sensitive period for lower-level speech perception/articulation skills, and a long one for higher-level language skills, may partly explain the language outcomes of children with cochlear implants (CIs). The participants were fourteen children fitted with a CI before their second birthday. Data about their language skills and the environmental conditions (e.g. Family Involvement in rehabilitation) were obtained over a period of three years. Age at implantation correlated exclusively with the ratio of errors of place of articulation, a phonological feature for which CIs provide insufficient information. The degree of Family Involvement was significantly correlated with the remaining language measures. We conclude that small plasticity reductions affecting lower-level skills may partly explain the difficulties of some CI users in developing language.

PMID: 26924727 [PubMed - indexed for MEDLINE]

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The impact of input quality on early sign development in native and non-native language learners.

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The impact of input quality on early sign development in native and non-native language learners.

J Child Lang. 2016 May;43(3):537-52

Authors: Lu J, Jones A, Morgan G

Abstract
There is debate about how input variation influences child language. Most deaf children are exposed to a sign language from their non-fluent hearing parents and experience a delay in exposure to accessible language. A small number of children receive language input from their deaf parents who are fluent signers. Thus it is possible to document the impact of quality of input on early sign acquisition. The current study explores the outcomes of differential input in two groups of children aged two to five years: deaf children of hearing parents (DCHP) and deaf children of deaf parents (DCDP). Analysis of child sign language revealed DCDP had a more developed vocabulary and more phonological handshape types compared with DCHP. In naturalistic conversations deaf parents used more sign tokens and more phonological types than hearing parents. Results are discussed in terms of the effects of early input on subsequent language abilities.

PMID: 26922911 [PubMed - indexed for MEDLINE]

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