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1.
Genes (Basel) ; 15(4)2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38674423

RESUMEN

The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing PTPRQ variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with PTPRQ-associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of PTPRQ-associated HL and may be relevant in clinical practice.


Asunto(s)
Pérdida Auditiva Sensorineural , Proteínas Tirosina Fosfatasas Clase 3 Similares a Receptores , Humanos , Masculino , Femenino , Proteínas Tirosina Fosfatasas Clase 3 Similares a Receptores/genética , Niño , Preescolar , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/patología , Adulto , Japón , Adolescente , Mutación , Lactante , Secuenciación de Nucleótidos de Alto Rendimiento , Estudios de Cohortes , Persona de Mediana Edad , Pueblos del Este de Asia
2.
Genes (Basel) ; 10(10)2019 09 23.
Artículo en Inglés | MEDLINE | ID: mdl-31547530

RESUMEN

Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8074 Japanese hearing loss patients utilizing massively parallel DNA sequencing to identify individuals with LOXHD1 variants and to assess their phenotypes. A total of 28 affected individuals and 21 LOXHD1 variants were identified, among which 13 were novel variants. A recurrent variant c.4212 + 1G > A, only reported in Japanese patients, was detected in 18 individuals. Haplotype analysis implied that this variation occurred in a mutational hot spot, and that multiple ancestors of Japanese population had this variation. Patients with LOXHD1 variations mostly showed early onset hearing loss and presented different progression rates. We speculated that the varying severities and progression rates of hearing loss are the result of environmental and/or other genetic factors. No accompanying symptoms, including vestibular dysfunction, with hearing loss were detected in this study. Few studies have reported the clinical features of LOXHD1-gene associated hearing loss, and this study is by far the largest study focused on the evaluation of this gene.


Asunto(s)
Pueblo Asiatico/genética , Proteínas Portadoras/genética , Pérdida Auditiva/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Variación Genética , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Análisis de Secuencia de ADN , Adulto Joven
3.
Dent Mater J ; 33(3): 415-21, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24786349

RESUMEN

This study aimed to evaluate the effect of EDTA solutions (3% and 10% EDTA•2Na) on corrosion fatigue of three Ni-Ti files with different shapes, in comparison with other solutions (6% NaClO, 3% H2O2, 0.9% NaCl and distilled water). Ni-Ti files were subjected to rotational bending in a bent glass tube (30° and 60° angles) filled with the solutions, and the number of rotations to failure was counted. At 30° bent angle, files in the two EDTA solutions showed significantly lower resistance than those in distilled water, but no significant difference was found between the two EDTA solutions. Fatigue resistance of two tested files in the two EDTA solutions was not significantly different from those in the other three solutions, whereas one file in EDTA solutions showed significantly lower resistance than that in 3% H2O2. At 60° bent angle, early failure within 1-2.5 min was observed for all tested files, and no significant difference was found among the six solutions. At both angles, significant differences in fatigue resistance were observed among the three tested files, which could be related to the difference in the cross-sectional shapes of the files.


Asunto(s)
Corrosión , Ácido Edético/química , Ensayo de Materiales , Níquel/química , Titanio/química , Soluciones
4.
Neurology ; 80(6): 533-9, 2013 02 05.
Artículo en Inglés | MEDLINE | ID: mdl-23345639

RESUMEN

OBJECTIVE: To assess the efficacy and tolerability of pregabalin for the treatment of central neuropathic pain after spinal cord injury (SCI). METHODS: Patients with chronic, below-level, neuropathic pain due to SCI were randomized to receive 150 to 600 mg/d pregabalin (n = 108) or matching placebo (n = 112) for 17 weeks. Pain was classified in relation to the neurologic level of injury, defined as the most caudal spinal cord segment with normal sensory and motor function, as above, at, or below level. The primary outcome measure was duration-adjusted average change in pain. Key secondary outcome measures included the change in mean pain score from baseline to end point, the percentage of patients with ≥30% reduction in mean pain score at end point, patient global impression of change scores at end point, and the change in mean pain-related sleep interference score from baseline to end point. Additional outcome measures included the medical outcomes study-sleep scale and the Hospital anxiety and depression scale. RESULTS: Pregabalin treatment resulted in statistically significant improvements over placebo for all primary and key secondary outcome measures. Significant pain improvement was evident as early as week 1 and was sustained throughout the treatment period. Adverse events were consistent with the known safety profile of pregabalin and were mostly mild to moderate in severity. Somnolence and dizziness were most frequently reported. CONCLUSIONS: This study demonstrates that pregabalin is effective and well tolerated in patients with neuropathic pain due to SCI. CLASSIFICATION OF EVIDENCE: This study provides class I evidence that pregabalin, 150 to 600 mg/d, is effective in reducing duration-adjusted average change in pain compared with baseline in patients with SCI over a 16-week period (p = 0.003, 95% confidence interval = -0.98, -0.20).


Asunto(s)
Analgésicos/uso terapéutico , Neuralgia/tratamiento farmacológico , Neuralgia/etiología , Traumatismos de la Médula Espinal/complicaciones , Ácido gamma-Aminobutírico/análogos & derivados , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neuralgia/psicología , Pregabalina , Sueño/fisiología , Traumatismos de la Médula Espinal/psicología , Resultado del Tratamiento , Ácido gamma-Aminobutírico/uso terapéutico
5.
Dent Mater J ; 31(1): 61-7, 2012 Feb 03.
Artículo en Inglés | MEDLINE | ID: mdl-22277607

RESUMEN

The purpose of this study was to investigate the relation between the texture of worn surfaces of composite resins and the maximum wear depth. Three types of composite resins were investigated: a hybrid composite resin consisting of irregular-shaped inorganic filler particles (APX); a composite resin which contained small, irregular-shaped, inorganic filler particles and large organic composite filler particles (SRE); and another which contained spherical inorganic filler particles and large organic composite filler (SDX). Surface profile measurement and elemental analysis were carried out on the worn surfaces of these three composite resins using an electron probe microanalyzer (EPMA). For the composite resin which exhibited the largest maximum wear depth, its surface texture was slightly rough with fine pores and grooves. For the composite resin with lowest maximum wear depth, it had a smooth worn surface due to the large organic composite filler being abraded during the combined wear test.


Asunto(s)
Resinas Compuestas/química , Materiales Dentales/química , Oclusión Dental , Alisadura de la Restauración Dental , Cepillado Dental/métodos , Fuerza de la Mordida , Compuestos Inorgánicos de Carbono/química , Resinas Compuestas/análisis , Luces de Curación Dental , Materiales Dentales/análisis , Pulido Dental/métodos , Microanálisis por Sonda Electrónica , Humanos , Ensayo de Materiales , Metacrilatos/análisis , Metacrilatos/química , Nanocompuestos/análisis , Nanocompuestos/química , Porosidad , Compuestos de Silicona/química , Espectrometría por Rayos X , Propiedades de Superficie , Cepillado Dental/instrumentación
6.
J Orthop Sci ; 15(1): 97-103, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20151258

RESUMEN

BACKGROUND: Cervical myelopathy is more common among Japanese than Westerners. The shorter anteroposterior diameter of the cervical spinal canals (AP diameter) is its probable cause. In recent years, builds of younger Japanese have become larger and been approaching those of Westerners. The purpose of this study was to investigate whether the cervical spinal canal had enlarged in the younger Japanese as well as any cross-sectional improvement in their builds. METHODS: The subjects included 300 men and 300 women who were healthy and without symptoms related to the cervical spine. They were divided into six age groups at 10-year intervals from the twenties to the seventies. Height, body weight, and arm span were measured as physical factors. Using lateral dynamic radiographs of the cervical spine, the AP diameter from C3 to C6 in the neutral position and Penning's jaw diameter in extension (jaw diameter) from C2/3 to C5/6 were measured. The number of trapezoid-shaped vertebral bodies with a thickened posterior margin were also counted as such thickening might be one of the causes of spinal canal narrowing. Statistical analysis was performed for the following associations in both sexes: (1) age and physical factors; (2) age and the AP diameter; (3) age and jaw diameter; and (4) the difference of the AP diameter of the canal within and outside the trapezoid-shaped deformity of the vertebral body. RESULTS: In both men and women, the younger generations statistically had a larger height, arm span, and AP diameter. Older generations showed a significantly narrower jaw diameter at all measured spinal levels in both sexes. Trapezoid-shaped vertebral bodies were found in 3.5% of the men and in 1.3% of the women in their fifties, sixties, and seventies, which statistically had no effect on the AP diameter being wider in the younger generations. CONCLUSIONS: Younger generations had larger builds and a wider canal of the cervical spine. A narrow spinal canal is a fundamental risk factor for cervical myelopathy. Therefore, cervical myelopathy might be expected to decrease in Japan in the near future when the present younger generations have aged.


Asunto(s)
Envejecimiento , Antropometría , Vértebras Cervicales/anatomía & histología , Canal Medular/anatomía & histología , Adulto , Anciano , Femenino , Humanos , Japón , Masculino , Persona de Mediana Edad , Valores de Referencia , Distribución por Sexo , Adulto Joven
7.
Dent Mater J ; 27(5): 678-86, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18972784

RESUMEN

The purpose of this study was to investigate the effects of three additives, Sn, Ga, and In, as well as the main constituents, Pd and Cu, of Ag-Pd-Au-Cu alloys on the initial bond strength of 4-META adhesive cement to these alloys. The Ag-Pd-Au-Cu alloys consisted of 20%, 30% or 40% Pd, and 10%, 15% or 20% Cu, 20% Au, and Ag as balance. Besides, additive metals (Sn, Ga, and In) of 2% and 4% were added to these compositions. The addition of three additives, in general, increased the initial bond strength of the cement in comparison to the mother compositions (0% additives), although the degrees of effectiveness of the three additives were different and varied with their contents. Among these additives, a remarkable increase in bond strength was observed with the addition of In. The increase in Cu content, in many cases, resulted in an increase in bond strength at high Pd contents (30% and 40%), but a decrease at low Pd content (20%) in some cases. The positive effects of the three additives and Cu could be due to the formation of a suitable oxide layer for strong bonding with 4-META.


Asunto(s)
Resinas Acrílicas/química , Cobre/química , Aleaciones Dentales/química , Recubrimiento Dental Adhesivo , Galio/química , Aleaciones de Oro/química , Indio/química , Paladio/química , Cementos de Resina/química , Plata/química , Estaño/química , Resinas Acrílicas/análisis , Compuestos de Boro/análisis , Compuestos de Boro/química , Cobre/análisis , Aleaciones Dentales/análisis , Análisis del Estrés Dental/instrumentación , Galio/análisis , Aleaciones de Oro/análisis , Humanos , Indio/análisis , Ensayo de Materiales , Metacrilatos/análisis , Metacrilatos/química , Metilmetacrilatos/análisis , Metilmetacrilatos/química , Paladio/análisis , Cementos de Resina/análisis , Plata/análisis , Estrés Mecánico , Propiedades de Superficie , Temperatura , Resistencia a la Tracción , Factores de Tiempo , Estaño/análisis , Agua/química
8.
J Am Chem Soc ; 126(16): 5219-24, 2004 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-15099106

RESUMEN

Fluoride complexation of element 104, rutherfordium (Rf), produced in the 248Cm(18O,5n)261Rf reaction has been studied by anion-exchange chromatography on an atom-at-a-time scale. The anion-exchange chromatographic behavior of Rf was investigated in 1.9-13.9 M hydrofluoric acid together with those of the group-4 elements Zr and Hf produced in the 18O-induced reactions on Ge and Gd targets, respectively. It was found that the adsorption behavior of Rf on anion-exchange resin is quite different from those of Zr and Hf, suggesting the influence of relativistic effects on the fluoride complexation of Rf.

9.
Dent Mater J ; 23(4): 474-89, 2004 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15688708

RESUMEN

The mechanical properties of six 35Ag-30Pd-20Au-15Cu alloys containing different contents (2% and 4%) of Sn, Ga, or In and a 35Ag-30Pd-20Au-15Cu alloy without additives were evaluated. These alloys were subjected to four different heat treatments before a mechanical test. The distribution of the elements and their contents were analyzed. The mechanical properties of 35Ag-30Pd-20Au-15Cu alloy changed in wide-ranging ways with different heat treatments and with different additive contents. The effects of heat treatment on tensile strength and hardness significantly varied with different additives and their contents. These different changes could be attributed to the formation of different phases in these alloys. Based on the high strength and wide-ranging changes in the mechanical properties when subjected to softening and hardening heat treatments, the 2% Sn-added, 2% In-added, and 4% Ga-added alloys can be recommended for different dental restorations such as crown & bridges, inlays, and denture frameworks.


Asunto(s)
Aleaciones Dentales/química , Análisis de Varianza , Calorimetría , Restauración Dental Permanente , Análisis del Estrés Dental , Elasticidad , Microanálisis por Sonda Electrónica , Galio/análisis , Galio/química , Dureza , Calor , Indio/análisis , Indio/química , Ensayo de Materiales , Mecánica , Transición de Fase , Estadísticas no Paramétricas , Resistencia a la Tracción , Estaño/análisis , Estaño/química
10.
Dent Mater J ; 23(4): 572-6, 2004 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15688721

RESUMEN

Full crowns were fabricated from three different materials (titanium, ceramic, and resin composite) at different rest diameters using a dental CAD/CAM system, and then their marginal discrepancy measured. The deflection of cylindrical specimens at 500 gf was measured using the same materials and diameters as for the accuracy measurement. Marginal discrepancy decreased as rest diameter increased, and at the same rest diameter the titanium crown had lower marginal discrepancy than ceramic and composite crowns. A significant correlation was found between marginal discrepancy of the crowns and deflection of the materials. This correlation was aptly expressed in the regression equation, MG = 4.54DF+53.9, where MG represented marginal discrepancy and DF represented deflection. This equation can be used as a good measure for new materials which have different modulus of elasticity.


Asunto(s)
Diseño Asistido por Computadora , Coronas , Diseño de Prótesis Dental , Análisis de Varianza , Resinas Compuestas , Adaptación Marginal Dental , Porcelana Dental , Análisis del Estrés Dental , Elasticidad , Modelos Lineales , Reproducibilidad de los Resultados , Estadísticas no Paramétricas , Titanio
11.
Dent Mater J ; 22(3): 321-7, 2003 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-14620998

RESUMEN

The objective of this study was to evaluate the efficacy of the developed investment for the prevention of blackening of a cast Type 4 gold and to analyze the oxides on its surface in relation to the blackening of the alloy. The experimental investments were prepared using a gypsum-bonded investment in which boron (B) or aluminum (Al) was added as a reducing agent. A Type 4 gold alloy was cast into the mold made of the prepared investment. The effect of the additives was evaluated from the color difference (deltaE*) between the as-cast surface and the polished surface of the cast specimen. B and Al were effective to prevent the blackening of a Type 4 gold alloy and the color of the as-cast surface approached that of the polished surface with increasing B and Al content. The prevention of the blackening of the gold alloy can be achieved by restraining the formation of CuO.


Asunto(s)
Revestimiento para Colado Dental/química , Aleaciones de Oro/química , Aluminio/química , Análisis de Varianza , Boro/química , Sulfato de Calcio/química , Color , Cobre/química , Pulido Dental , Microanálisis por Sonda Electrónica , Humanos , Ensayo de Materiales , Óxidos/química , Sustancias Reductoras/química , Propiedades de Superficie
12.
Dent Mater J ; 22(1): 87-95, 2003 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-12790300

RESUMEN

The objective of this study is to develop a casting investment that prevents the blackening of the cast surface of noble metal alloys. The experimental investments were prepared using a gypsum-bonded investment in which the metallic powders such as boron (B), silicon (Si), aluminum (Al) and titanium (Ti) were added as oxidizing agents. An Ag-Pd-Cu-Au alloy was cast into the mold made of the prepared investment. The effect of the addition of each metal powder was evaluated from the color difference between the as-cast surface and the polished surface of the cast specimen. The color of the as-cast surface approached that of the polished surface with increasing B and Al content. A lower mean value in the color difference was obtained at 0.25-1.00 mass% B content. B and Al are useful as an additive in a gypsum-bonded investment to prevent the blackening of an Ag-Pd-Cu-Au alloy. The effects of Si and Ti powder addition could not be found.


Asunto(s)
Sulfato de Calcio/química , Aleaciones Dentales/química , Revestimiento para Colado Dental/química , Sustancias Reductoras/química , Aluminio/química , Boro/química , Color , Óxidos/química , Silicio/química , Titanio/química
13.
Dent Mater J ; 21(4): 332-42, 2002 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-12608423

RESUMEN

Ten 35Ag-30Pd-20Au-15Cu alloys containing 0.00, 0.25, 0.50, 0.75, 1.00, 1.25, 1.50, 2.00, 4.00, or 6.00% Ga were experimentally prepared to investigate the effect of Ga on their mechanical properties in addition to their use for denture frameworks, connectors and clasps. The effect of Ga addition on the mechanical properties was marked with a significant increase in the tensile strength, 0.2% off-set proof stress (proof stress) and Vickers hardness observed at low Ga contents (0.25-2.00%). On the other hand, the elongation significantly decreased with the addition of Ga at all contents used in this study. The tensile strength, proof stress and Vickers hardness of the 35Ag-30Pd-20Au-15Cu alloys containing 0.25-2.00% Ga were in the range of 809-957 MPa, 669-857 MPa and 260-301 MPa, respectively. These values are similar to those of Co-Cr alloys, suggesting that 0.25-2.00% Ga alloys can be used for denture frameworks, clasps and connectors.


Asunto(s)
Aleaciones Dentales/química , Galio/química , Análisis de Varianza , Fenómenos Químicos , Química Física , Aleaciones de Cromo/química , Cobre/química , Abrazadera Dental , Análisis del Estrés Dental/instrumentación , Bases para Dentadura , Elasticidad , Aleaciones de Oro/química , Dureza , Humanos , Ensayo de Materiales , Paladio/química , Plata/química , Estadística como Asunto , Estrés Mecánico , Resistencia a la Tracción
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