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1.
J Dent Res ; 100(9): 935-942, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33771050

RESUMEN

Ceramic restorations are often adhesively luted onto the tooth prep. The so-called touch-cure concept was developed to yield optimum polymerization of composite cement at the restoration-cement-tooth interface for immediate bond stabilization. Although this touch cure is theorized to initiate polymerization at the interface when the accelerator in the primer makes contact with the cement, this process has not yet been proven. This study aimed to elucidate the mechanism of touch cure by measuring the degree of conversion (DC) of composite cement applied with or without an accelerator-containing tooth primer (TP) versus an accelerator-free primer using real-time Fourier-transform infrared spectroscopy (RT-FTIR) and attenuated total reflection (ATR)-FTIR. Interfacial bond strength was measured in shear mode, the accelerator composition confirmed by X-ray fluorescence analysis (XRF), and the interfacial interaction of TP and composite cement with dentin investigated by X-ray diffraction (XRD), focused-ion-beam scanning electron microscopy (FIB-SEM) with 3-dimensional interface reconstruction, and transmission electron microscopy (TEM). RT/ATR-FTIR revealed the significantly highest DC when the composite cement was applied with the accelerator-containing primer. XRF disclosed a vanadium compound as a novel chemical accelerator within TP, instead of a classic chemical curing initiator system, to set off touch cure as soon the cement contacts the previously applied primer. Although the TP contains the acidic functional monomer 10-MDP for adhesion to tooth tissue, touch cure using the accelerator-containing TP combined the fastest/highest DC with the highest bond strength. FIB-SEM and TEM confirmed the tight interfacial interaction at dentin with submicron hybridization along with stable 10-MDP also Ca-salt nanolayering.


Asunto(s)
Recubrimiento Dental Adhesivo , Cementos de Resina , Resinas Compuestas , Dentina , Recubrimientos Dentinarios , Ensayo de Materiales , Metacrilatos , Polimerizacion , Propiedades de Superficie , Resistencia a la Tracción , Tacto
2.
Diabet Med ; 31(11): 1357-62, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24804978

RESUMEN

AIMS: To investigate the molecular and clinical characteristics of the largest series of Japanese patients with glucokinase maturity-onset diabetes of the young (GCK-MODY), and to find any features specific to Asian people. METHODS: We enrolled 78 Japanese patients with GCK-MODY from 41 families (55 probands diagnosed at the age of 0-14 years and their 23 adult family members). Mutations were identified by direct sequencing or multiplex ligation-dependent probe amplification of all exons of the GCK gene. Detailed clinical and laboratory data were collected on the probands using questionnaires, which were sent to the treating physicians. Data on current clinical status and HbA1c levels were also collected from adult patients. RESULTS: A total of 35 different mutations were identified, of which seven were novel. Fasting blood glucose and HbA1c levels of the probands were ≤9.3 mmol/l and ≤56 mmol/mol (7.3%), respectively, and there was considerable variation in their BMI percentiles (0.4-96.2). In total, 25% of the probands had elevated homeostatic assessment of insulin resistance values, and 58.3% of these had evidence of concomitant Type 2 diabetes in their family. The HbA1c levels for adults were slightly higher, up to 61 mmol/mol (7.8%). The incidence of microvascular complications was low. Out of these 78 people with GCK-MODY and 40 additional family members with hyperglycaemia whose genetic status was unknown, only one had diabetic nephropathy. CONCLUSIONS: The molecular and clinical features of GCK-MODY in Japanese people are similar to those of other ethnic populations; however, making a diagnosis of GCK-MODY was more challenging in patients with signs of insulin resistance.


Asunto(s)
Diabetes Mellitus Tipo 2/genética , Angiopatías Diabéticas/epidemiología , Salud de la Familia , Glucoquinasa/genética , Resistencia a la Insulina , Mutación , Enfermedades Vasculares Periféricas/complicaciones , Adulto , Anciano , Sustitución de Aminoácidos , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/terapia , Angiopatías Diabéticas/prevención & control , Femenino , Eliminación de Gen , Estudios de Asociación Genética , Glucoquinasa/metabolismo , Hemoglobina Glucada/análisis , Humanos , Hipoglucemiantes/uso terapéutico , Incidencia , Japón/epidemiología , Masculino , Microvasos/efectos de los fármacos , Persona de Mediana Edad , Enfermedades Vasculares Periféricas/epidemiología , Enfermedades Vasculares Periféricas/prevención & control , Polimorfismo de Nucleótido Simple
3.
Dent Mater ; 29(5): 530-4, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23477950

RESUMEN

OBJECTIVE: A theoretical model, based on fluid dynamics, was developed to measure impression pressure. The purpose of this study was to evaluate the validity of this theoretical model by comparing its theoretical analysis against actual pressure measurements conducted using an impression tray and edentulous oral mucosa analog embedded with pressure sensors. METHODS: In the theoretical model, a hollow tube was mounted onto an impression tray by penetrating through the tray. When force was applied to the tray, pressure was produced which then caused the impression material to flow into the hollow tube. Length of impression material which flowed into tube was denoted as l. In the calculation formula for theoretical model, pressure impulse I was expressed as a function of impression flow length l. For actual pressure measurements, four electric pressure sensors were embedded in an experimental edentulous arch. To visually observe and measure length of impression material flow, four transparent silicon tubes were mounted vertically at different positions on tray. During tray seating, impression material flowed into tubes and pressure which caused material flow movement was measured by the embedded sensor at each tube's position. RESULTS: Based on actual pressure measurements under one experimental condition, regression analysis of pressure data acquired from electric sensors yielded the formula, Y=0.056X²+0.124X. Based on theoretical analysis using a particular viscosity value, the numerical formula yielded was Y=0.057X², which resembled that of the regression formula. SIGNIFICANCE: Theoretical model presented in this paper augured well for clinical application as an easy and economical means to examine magnitude and distribution of impression pressure by measuring lengths of impression material flow in tubes fixed to impression tray.


Asunto(s)
Materiales de Impresión Dental/química , Técnica de Impresión Dental/instrumentación , Dentadura Completa , Modelos Dentales , Modelos Teóricos , Presión , Análisis de Regresión , Viscosidad
5.
Avian Dis ; 56(1): 110-3, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22545535

RESUMEN

We studied the pathologic features of neurons that contain intracytoplasmic acidophilic droplets (IADs) in chicken spinal cords. The IADs were lustrous spheroid bodies scattered in the cytoplasm of neurons, variable in size, and protein-rich bodies stained eosinophilic with hematoxylin-eosin, acidophilic with Azan, blue indigo with phosphotungstic acid hematoxylin, and yellow-green with Elastica van Gieson stain histopathologically. Ultrastructurally, almost all IADs were observed as homogeneous highly electron-dense spheroid bodies enclosed by double-limited membranes. Small IADs were observed in mitochondria. Anatomically, IAD-CNs were observed only in the ventral horn of the spinal cord between the fourth sacral and third lumbal vertebrae, and they were particularly frequent in the third sacral vertebrae. Their appearance and accumulative amount were likely to increase with age, while the clinical and pathologic significances of IAD-CNs remain unclear.


Asunto(s)
Envejecimiento , Pollos/anatomía & histología , Cuerpos de Inclusión/ultraestructura , Neuronas/ultraestructura , Médula Espinal/ultraestructura , Animales , Femenino , Masculino , Microscopía Electrónica de Transmisión/veterinaria , Mitocondrias/ultraestructura
6.
Indoor Air ; 20(6): 486-93, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20636334

RESUMEN

UNLABELLED: We undertook this to determine the formaldehyde concentration in Japanese houses and the relationship between formaldehyde levels and the age and temperature of a house using a sensor element that we developed for time-integrated measurements of formaldehyde concentration in actual environments. We evaluated the correlation between the formaldehyde concentration estimated by the dinitrophenylhydrazine (DNPH)-derivatization method and that obtained with our sensor element. We found a linear relationship between the two results indicating that reliable measurements can be performed using the developed sensor element in actual environments. The indoor concentration of formaldehyde was determined in a study of 34 homes in the Kanto area of Japan, between September 28 and October 27, 2007. We obtained the highest formaldehyde concentrations of 92 ± 15 µg/m(3) for apartments 0-2 years after their renovation, and a simple linear relationship was found between formaldehyde concentration and the age of the apartment. We also found that the formaldehyde concentration in a room containing furniture increased by 10% when the temperature increased by 1°C. PRACTICAL IMPLICATIONS: This study contributed to the measurements of indoor formaldehyde levels. We have used a newly developed sensor for time-integrated measurements of formaldehyde concentrations. This sensor does not need a power supply during exposure to air, and does not need special skills to use. This research showed that homeowners successfully deployed the sensor at the desired place and desired period in their house by themselves. Formaldehyde is emitted by various off-gassing sources, such as furniture. Therefore, for example, homeowners may want to measure the change of formaldehyde levels in their house before and after installing new furniture. This sensor may also be deployed by occupants to reduce the cost of a large-scale exposure assessment study.


Asunto(s)
Contaminantes Atmosféricos/análisis , Contaminación del Aire Interior/análisis , Formaldehído/análisis , Calibración , Vivienda , Japón , Temperatura
7.
J Oral Rehabil ; 33(8): 609-18, 2006 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16856959

RESUMEN

This study aimed to evaluate the effect of recombinant human bone morphogenetic protein-2 (rhBMP-2) on vertical bone regeneration of edentulous ridge. Bilateral upper first and second molars of 8-week-old Wistar rats were extracted and the ridges were allowed to heal for 3 weeks. Compressed poly(lactic-co-glycolic acid) copolymer/gelatin sponge (PGS) was used as a carrier of rhBMP-2. PGS alone (control group) or PGS with 5 mug rhBMP-2 (test group) was implanted at the top part of alveolar ridge. The sham group received no implantation. The rats were killed at 1, 2, 4, 8 and 12 weeks after implantation and examined histologically and histomorphometrically. In the test group, significant bone augmentation was evident on the alveolar ridge throughout the experimental period. Histomorphometric analysis revealed greater tissue volume and height of alveolar bone in the test group compared with the control and sham groups (P < 0.05) from 4 weeks onward and the augmented tissues (5 mm3 in tissue volume and 1.5 mm in bone height) were maintained until 12 weeks. Osteoblast surface increased at 2 and 4 weeks and osteoid thickness reached a peak (25 microm) at 2 weeks. Dynamic variables, which represented calcification, were higher in the test group than the control and sham groups at 4 and 8 weeks (P < 0.05). These results suggest that use of rhBMP-2/PGS may achieve vertical bone augmentation, and stabilizes denture prosthesis or makes up for inadequate bone mass for implant prosthesis.


Asunto(s)
Aumento de la Cresta Alveolar/métodos , Proteínas Morfogenéticas Óseas/uso terapéutico , Regeneración Ósea/efectos de los fármacos , Proteínas Recombinantes/uso terapéutico , Factor de Crecimiento Transformador beta/uso terapéutico , Proceso Alveolar/patología , Proceso Alveolar/fisiopatología , Animales , Materiales Biocompatibles , Proteína Morfogenética Ósea 2 , Sustitutos de Huesos/uso terapéutico , Esponja de Gelatina Absorbible , Arcada Edéntula/patología , Arcada Edéntula/fisiopatología , Ácido Láctico , Masculino , Microscopía Electrónica , Osteoblastos/patología , Ácido Poliglicólico , Copolímero de Ácido Poliláctico-Ácido Poliglicólico , Polímeros , Ratas , Ratas Wistar
8.
Appl Radiat Isot ; 64(10-11): 1253-9, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16549351

RESUMEN

A certified reference material (CRM) for radionuclides in fish sample IAEA-414 (mixed fish from the Irish Sea and North Seas) is described and the results of the certification process are presented. Nine radionuclides (40K, 137Cs, 232Th, 234U, 235U, 238U, 238Pu, 239+240Pu and 241Am) were certified for this material. Information on massic activities with 95% confidence intervals is given for six other radionuclides (90Sr, 210Pb(210Po), 226Ra, 239Pu, 240Pu 241Pu). Less frequently reported radionuclides (99Tc, 129I, 228Th, 230Th and 237Np) and information on some activity and mass ratios are also included. The CRM can be used for quality assurance/quality control of the analysis of radionuclides in fish sample, for the development and validation of analytical methods and for training purposes. The material is available from IAEA, Vienna, in 100 g units.


Asunto(s)
Peces/metabolismo , Guías como Asunto , Monitoreo de Radiación/métodos , Monitoreo de Radiación/normas , Radioisótopos/análisis , Radioisótopos/normas , Estándares de Referencia , Animales , Cooperación Internacional , Irlanda , Océanos y Mares , Dosis de Radiación , Valores de Referencia , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
9.
J Oral Rehabil ; 30(11): 1081-4, 2003 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-14641672

RESUMEN

Self-curing acrylic resin is generally used for the repair of a fractured denture base. However, re-fracture of the repaired denture base resin often occurs because of poor bonding strength between the base resin and self-curing repair resin. The effect of plasma treatment on the shear bond strength between heat cured acrylic resin and the self-cured acrylic was examined. It was revealed that plasma irradiation is effective in increasing the shear bond strength. Plasma irradiation does not cause environmental pollution, as it does not require chemicals. It is a useful method to increase adhesive strength between heat cured acrylic resin and self-curing acrylic resin.


Asunto(s)
Resinas Acrílicas/química , Recubrimiento Dental Adhesivo , Bases para Dentadura , Plasma , Fracaso de la Restauración Dental , Reparación de la Dentadura/métodos , Calor , Humanos , Ensayo de Materiales/métodos , Resistencia al Corte
10.
Clin Genet ; 64(5): 420-3, 2003 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-14616765

RESUMEN

Crigler-Najjar syndrome type I is a severe form of hereditary unconjugated hyperbilirubinemia and is caused by homozygous or compound heterozygous mutations of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). We analyzed the bilirubin UDP-glucuronosyltransferase gene in a female Chinese patient with Crigler-Najjar syndrome type I. Relatives of the patient were also analyzed. The patient was homozygous for a nonsense mutation of R341X. The patient's father, sister and brother, all diagnosed with Gilbert's syndrome, were compound heterozygotes of R341X, P229Q, and an insertion mutation of the TATA box [A(TA)7TAA]. Heterozygotes of nonsense mutations (Q331X and C280X) in our previous study had either Crigler-Najjar syndrome type II or Gilbert's syndrome, but heterozygotes of R341X (mother and grandmothers) were normal. An in vitro expression study of homozygous and heterozygous models of R341X showed 0 and 58%, respectively, of normal enzyme activity. Therefore, the present results indicate that carriers of the nonsense mutation could be normal for plasma bilirubin concentration, Gilbert's syndrome and Crigler-Najjar syndrome type II. The results also suggest the importance of the accumulation of prevalent or polymorphic mutation in the etiology of Gilbert's syndrome and Crigler-Najjar syndrome type II.


Asunto(s)
Síndrome de Crigler-Najjar/genética , Enfermedad de Gilbert/genética , Glucuronosiltransferasa/genética , Mutación , Adulto , Sustitución de Aminoácidos , Secuencia de Bases , Preescolar , China/etnología , Codón sin Sentido , Consanguinidad , Femenino , Técnicas de Transferencia de Gen , Vectores Genéticos , Humanos , Masculino , Linaje
11.
J Oral Rehabil ; 30(6): 608-13, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12787458

RESUMEN

The purpose of this study was to inspect visually, the dynamics of the impression flow at seating of the impression tray. The effects of the relief and the escape hole of the impression tray on the impression flow were also examined. Three types of the transparent impression tray (flat tray, relief tray and escape hole tray) were prepared. Transparent silicone polymer was put on the impression tray surface. Four drops of the dark blue silicone impression material was injected into the transparent silicone polymer on the impression tray. The impression tray was seated on the model of the denture-supporting mucosa. The movement of the four drops caused by the impression flow was visually recorded with the video camera and examined. The result for the flat tray showed that the impression material moved from inside to the outside. It was also shown that the speed of the moved impression material increased as the seating of the impression tray advanced. The results for the relief tray and the escape hole tray showed the effect of the relief and the escape hole prepared to the impression tray on the speed and the direction of the flow of the impression material.


Asunto(s)
Materiales de Impresión Dental/química , Elastómeros de Silicona/química , Técnica de Impresión Dental/instrumentación , Diseño de Equipo , Humanos , Ensayo de Materiales/métodos , Mucosa Bucal/química , Mucosa Bucal/fisiología
12.
J Oral Rehabil ; 30(6): 646-52, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12787463

RESUMEN

To improve the quality of the complete denture prosthesis, the bucco-lingual position of the artificial posterior teeth must be determined with consideration of the shape of the maxillary and mandibular residual ridge and the relationship between them. The arrangement of posterior artificial teeth should be considered not only for the denture stability but also for the avoidance of high pressure on the supporting structures. A two-dimensional finite element method program to investigate the statics for the contour of the complete denture and the residual ridge was developed. With this program, the effect of the bucco-lingual position of the artificial posterior teeth under occlusal force on the denture supporting bone could be investigated.


Asunto(s)
Fuerza de la Mordida , Análisis de Elementos Finitos , Boca Edéntula/fisiopatología , Diente Artificial/normas , Oclusión Dental , Análisis del Estrés Dental/métodos , Femenino , Humanos , Persona de Mediana Edad
13.
J Oral Rehabil ; 30(5): 522-5, 2003 May.
Artículo en Inglés | MEDLINE | ID: mdl-12752934

RESUMEN

Severe speech difficulty is often caused after surgery of an oral cancer. Prosthetic treatment with a removable obturator prosthesis is generally provided for such patients. Although some speech ability is recovered with prosthetic treatment, patients sometimes complain of continued dissatisfaction with their speech. However, it is difficult to evaluate the dissatisfaction. Therefore, a new method for evaluation is desirable. In this study, such a new method using the galvanic skin response as the index for the dissatisfaction of the patient was developed, and its objectivity was investigated. Eleven patients with maxillary bone defects were selected. Prior to the evaluation, improvement of speech with the removable prosthesis was confirmed using the speech intelligibility test and the visual analogue scale. The electrical resistant value at pronunciation was measured with the measuring system composed with the apparatus (galvanic skin response (GSR) measuring apparatus), the personal computer program. The changes for the electrical resistant value after pronunciation were evaluated by calculating the decrease ratio at pronunciation [(the mean electrical resistance before pronunciation - the mean electrical resistance after pronunciation)/the mean electrical resistance before pronunciation]. This decrease ratio at pronunciation was defined as the index of the speech dissatisfaction of the subject. The mean values for the decrease ratio with prosthesis were significantly smaller than the values without prosthesis (P < 0.05). From the results of this study, it is suggested that the measurement of the electrical resistance change of the skin during speech could be a new method for evaluating the speech dissatisfaction of the post-oral-cancer patient.


Asunto(s)
Maxilar/cirugía , Neoplasias de la Boca/cirugía , Complicaciones Posoperatorias/rehabilitación , Trastornos del Habla/rehabilitación , Inteligibilidad del Habla , Femenino , Humanos , Masculino , Persona de Mediana Edad , Obturadores Palatinos/normas , Satisfacción del Paciente , Complicaciones Posoperatorias/psicología , Trastornos del Habla/etiología , Trastornos del Habla/psicología
16.
Surg Today ; 31(8): 743-6, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11510617

RESUMEN

We report herein the case of a 33-year-old woman who presented with palpable abdominal swelling found to be caused by a huge lymphangioma of the pancreas. An abdominal computed tomographic (CT) scan showed a large multilocular cystic mass with water-dense contents, which was derived from the pancreatic head. A pancreaticoduodenectomy (PD) was performed because the tumor had invaded the duodenum. The resected tumor, which was 23 x 12 x 23 cm in size with 21 of serous fluid, was pathologically diagnosed as a cystic lymphangioma. The endothelial cells lining the internal surface of the cystic spaces were immunohistochemically positive for factor VIII-R antigen and CD31. Our review of the literature revealed 45 reports of lymphangioma of the pancreas, including this one, but to the best of our knowledge this is only the fifth case that required a PD. Nevertheless, we recommend that a complete resection be performed to reduce the risk of recurrence.


Asunto(s)
Linfangioma Quístico/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Adulto , Femenino , Humanos , Linfangioma Quístico/cirugía , Neoplasias Pancreáticas/cirugía
17.
J Oral Rehabil ; 28(4): 393-9, 2001 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11350593

RESUMEN

This study examined the effect of masticatory pressure transmitted directly to the hard palate mucosa on the final stage of terminal differentiation of keratinizing system of rats with and without streptozotocin-induced diabetes mellitus. In the nondiabetic rats with masticatory pressure, the number of terminal-deoxynucleotidyl-transferase-mediated deoxyuridine-triphospate-biotin nick end labelling (TUNEL) positive cells tended to increase about twice as much as in the nondiabetic rats without pressure with and without denture. A similar tendency of increase was observed in the diabetic rats without pressure. The synergy of the mechanical pressure and diabetic condition for 2 weeks greatly accelerated the DNA fragmentation, showing 8-fold increase in TUNEL positive cells over the normal control, and caused exfoliation of the stratum corneum. A 4-week exposure of diabetics to the masticatory pressure induced laminar splitting in the midst of the spinosum. Some cells in the stratum granulosum exhibited a sign of DNA fragmentation when laminar splitting took place in the vital cell layer. Premature DNA fragmentation may disturb the adhesion between spinosum cells and prevent the maturation of stratum corneum. Increase in Bax protein-like immunoreactivity in these epithelial cells as revealed by immunocytochemistry may underlie the premature DNA fragmentation in the oral masticatory epithelium under pressure in diabetic patients.


Asunto(s)
Fragmentación del ADN , Diabetes Mellitus Experimental/complicaciones , Masticación/fisiología , Mucosa Bucal/patología , Proteínas Proto-Oncogénicas c-bcl-2 , Estomatitis Subprotética/etiología , Animales , Dentadura Completa Superior/efectos adversos , Diabetes Mellitus Experimental/inducido químicamente , Diabetes Mellitus Experimental/fisiopatología , Células Epiteliales/patología , Inmunohistoquímica , Etiquetado Corte-Fin in Situ , Masculino , Modelos Animales , Presión , Proteínas Proto-Oncogénicas/biosíntesis , Ratas , Ratas Wistar , Estomatitis Subprotética/patología , Estreptozocina , Proteína X Asociada a bcl-2
18.
J Pediatr Hematol Oncol ; 23(1): 45-7, 2001 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11196269

RESUMEN

Chemotherapy for malignant neoplasms sometimes causes unconjugated hyperbilirubinemia in the absence of liver dysfunction. We analyzed the association of chemotherapy-induced hyperbilirubinemia with mutations of the bilirubin uridine-5'-diphosphate (UDP)-glucuronosyltransferase gene (UGT1A1) from two leukemic patients in whom chemotherapy resulted in a hyperbilirubinemic response. We isolated genomic DNA from peripheral blood samples and amplified UGT1A1 by polymerase chain reaction. The amplified DNA fragments were analyzed by direct sequencing. The genes of the two patients revealed an identical heterozygous missense mutation in exon 1 (211G-->A: G71R). This UGT1A1 mutation may be the basis of chemotherapy-induced unconjugated hyperbilirubinemia.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Glucuronosiltransferasa/genética , Hiperbilirrubinemia/inducido químicamente , Leucemia Mieloide Aguda/tratamiento farmacológico , Mutación Missense , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Adolescente , Niño , Femenino , Humanos , Hiperbilirrubinemia/genética , Masculino , Reacción en Cadena de la Polimerasa
19.
Rinsho Shinkeigaku ; 41(8): 491-7, 2001 Aug.
Artículo en Japonés | MEDLINE | ID: mdl-11889833

RESUMEN

We reported a 60-year-old man with granulomatous angiitis of the central nervous system (GACNS) manifesting as subacute mental deterioration. His first symptoms were nausea and vomiting which brought him to a hospital, where no abnormality was found except for gastritis. One month later, he began to feel dizziness and brain tumor was suspected by a neurosurgeon with the MRI findings such as abnormal T2 signal and swelling in his brainstem. While he was followed up, he gradually presented mental change, disorientation and dysmnesia with the abnormal T2 signal spreading over the cerebral white matter bilaterally. Corticosteroid therapy was started based on the suspicion of a lymphoproliferative disease, and his symptoms and the abnormal MRI findings improved. Then he was referred to our department for further evaluation. Because we could not find any evidence of systemic diseases and he had been almost fully recovered, we discontinued the therapy. Soon after that, his mental deterioration as well as the abnormal T2 signal lesions on MRI relapsed. By open brain biopsy, the diagnosis of GACNS was established, and steroid pulse therapy was started. His symptoms and the abnormal T2 signal lesions improved gradually and the steroid was tapered to the maintenance dose without remission. Since the laboratory and imaging findings are not specific for the diagnosis of the angiitis confined to the central nervous system, brain biopsy is recommended for these disorders.


Asunto(s)
Trastornos Mentales/etiología , Vasculitis del Sistema Nervioso Central/diagnóstico , Vasculitis del Sistema Nervioso Central/patología , Enfermedad Aguda , Encéfalo/patología , Diagnóstico Diferencial , Progresión de la Enfermedad , Humanos , Imagen por Resonancia Magnética , Masculino , Trastornos Mentales/tratamiento farmacológico , Metilprednisolona/administración & dosificación , Persona de Mediana Edad , Quimioterapia por Pulso , Resultado del Tratamiento , Vasculitis del Sistema Nervioso Central/complicaciones
20.
Pediatrics ; 106(5): E59, 2000 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11061796

RESUMEN

OBJECTIVE: Breast milk jaundice is a common problem in nursing infants. It has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unknown. During our study of defects of the bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) in patients with hereditary unconjugated hyperbilirubinemia (Crigler-Najjar syndrome and Gilbert's syndrome) and neonatal hyperbilirubinemia, we encountered a prolonged case associated with breastfeeding; after cessation of breastfeeding, the infant's bilirubin level became normal. Genetic analysis revealed a missense mutation identical to that found in patients with Gilbert's syndrome, which usually causes jaundice after puberty. We analyzed the bilirubin UGT1A1 of infants with prolonged unconjugated hyperbilirubinemia associated with breast milk to ascertain whether genetic factors are involved. PATIENTS AND METHODS: We analyzed 17 breastfed Japanese infants with apparent prolonged jaundice (total serum bilirubin concentrations above 171 micromol/L [10 mg/dL]) 3 weeks to 1 month after their birth. Except for jaundice, the infants were healthy and did not show evidence of hemolytic anemia, liver dysfunction, or hypothyroidism. After cessation of breastfeeding, the serum bilirubin concentration began to decrease in all cases. When breastfeeding was resumed, serum bilirubin concentration again became elevated in some infants, but the concentration fell to within normal by 4 months of age. We analyzed the polymerase chain reaction-amplified exon, promoter, and enhancer regions of UGT1A1 by direct sequencing. RESULTS: Sixteen infants had at least one mutation of the UGT1A1. Seven were homozygous for 211G-->A (G71R), which is the most common mutation detected in the East Asian population, and the mutant enzyme had one third of the normal activity. G71R is the most common missense mutation we found in our analyses in Japanese patients with Gilbert's syndrome, and it corresponds to a UGT1A1 polymorphism in the Japanese population (the allele frequency is.16). One was heterozygous for 1456T-->G (Y486D) and homozygous for 211G-->A. Six were heterozygous for 211G-->A. One was heterozygous for both 211G-->A and a TATA box mutation (A(TA)7TAA). One had a heterozygous mutation in an enhancer region (C-->A at -1353). We did not detect a homozygous A(TA)7TAA mutation, which was the most common cause of Gilbert's syndrome in European population, in this study of Japanese infants with prolonged hyperbilirubinemia triggered by breast milk. CONCLUSIONS: The results indicate that defects of UGT1A1 are an underlying cause of the prolonged unconjugated hyperbilirubinemia associated with breast milk. One or more components in the milk may trigger the jaundice in infants who have such mutations. The mutations we found were identical to those detected in patients with Gilbert's syndrome, a risk factor of neonatal nonphysiologic hyperbilirubinemia and a genetic factor in fasting hyperbilirubinemia.


Asunto(s)
Enfermedad de Gilbert/genética , Glucuronosiltransferasa/genética , Hiperbilirrubinemia Hereditaria/genética , Ictericia Neonatal/sangre , Leche Humana/química , Pueblo Asiatico/genética , Bilirrubina/sangre , Lactancia Materna/efectos adversos , Femenino , Frecuencia de los Genes , Enfermedad de Gilbert/diagnóstico , Enfermedad de Gilbert/enzimología , Glucuronosiltransferasa/metabolismo , Humanos , Hiperbilirrubinemia Hereditaria/diagnóstico , Hiperbilirrubinemia Hereditaria/enzimología , Recién Nacido , Japón , Ictericia Neonatal/diagnóstico , Ictericia Neonatal/embriología , Leche Humana/enzimología , Mutación Missense , Polimorfismo Genético
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