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1.
J Wound Care ; 26(1): 20-25, 2017 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-28103163

RESUMEN

The presence of biofilms in chronic non-healing wounds, has been identified through in vitro model and in vivo animal data. However, human chronic wound studies are under-represented and generally report low sample sizes. For this reason we sought to ascertain the prevalence of biofilms in human chronic wounds by undertaking a systematic review and meta-analysis. Our initial search identified 554 studies from the literature databases (Cochrane Library, Embase, Medline). After removal of duplicates, and those not meeting the requirements of inclusion, nine studies involving 185 chronic wounds met the inclusion criteria. Prevalence of biofilms in chronic wounds was 78.2 % (confidence interval [CI 61.6-89, p<0.002]). The results of our meta-analysis support our clinical assumptions that biofilms are ubiquitous in human chronic non-healing wounds.


Asunto(s)
Biopelículas , Cicatrización de Heridas , Enfermedad Crónica/epidemiología , Humanos , Prevalencia
2.
J Wound Care ; 25(6): 335-9, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27286666

RESUMEN

OBJECTIVE: Chronic skin wounds are usually colonised with bacteria and subsequent infection may develop. Topical antiseptics are commonly used to control bacterial colonisation. The topical antiseptic, 1% polyvinylpyrrolidone-iodine (PVP-I), that is used on chronic open skin wounds remains controversial in the clinical setting because of its cytotoxicity. Here, we tested 1% PVP-I solution against saline to determine if it reduces bacterial count on the wound surface and within the tissue that may lead to wound reduction. METHOD: Open wounds that were created on the backs of Sprague Dawley rats were inoculated with Pseudomonas aeruginosa at the wound surface. Wounds were kept covered except for wound irrigation, two days post-wounding, wounds were irrigated daily using a 10ml syringe and spray tip. RESULTS: Our results indicate that 1% PVP-I irrigation resulted in a reduced bacterial count on the wound surface and within the tissue compared with saline irrigation. The 1% PVP-I irrigation promoted wound re-epithelialisation compared with saline irrigation, but it did not reach significance. CONCLUSION: These results indicated that irrigation with 1% PVP-I was an effective way to reduce bacterial count on the wound surface, and allow the wound to progress to healing.


Asunto(s)
Antiinfecciosos Locales/farmacología , Carga Bacteriana/efectos de los fármacos , Biopelículas/efectos de los fármacos , Povidona Yodada/farmacología , Pseudomonas aeruginosa/efectos de los fármacos , Irrigación Terapéutica/métodos , Heridas y Lesiones/terapia , Animales , Masculino , Pseudomonas aeruginosa/fisiología , Ratas , Ratas Sprague-Dawley , Cloruro de Sodio/farmacología , Heridas y Lesiones/patología
3.
Kyobu Geka ; 65(5): 369-73, 2012 May.
Artículo en Japonés | MEDLINE | ID: mdl-22569493

RESUMEN

It can be difficult to judge the degree of arborization of diminutive central pulmonary arteries (cPA) in patients with major aortopulmonary collateral arteries (MAPCA). Even through preoperative cardiac catheterization may not give adequate information. We introduce intra-operative direct angiography of diminutive cPA for patients with MAPCA. This would be one of the good options to judge the degree of arborization of the diminutive cPA, and to decide an initial surgical treatment. In this case, unifocalization of MAPCA without patch augmentation of pulmonary arteries, and an aortopulmonary shunt were performed at the 1st procedure. As enough growth of the cPA was obtained, this patient did not require additional patch augmentation of the pulmonary artery at the time of complete repair.


Asunto(s)
Angiografía/métodos , Aorta/anomalías , Arteria Pulmonar/anomalías , Arteria Pulmonar/diagnóstico por imagen , Circulación Colateral , Humanos , Lactante , Periodo Intraoperatorio , Masculino
4.
Kyobu Geka ; 61(10): 836-40, 2008 Sep.
Artículo en Japonés | MEDLINE | ID: mdl-18788370

RESUMEN

Primitive neuroectodermal tumor of the sternum is rare. A 59-year-old woman referred to our department with anterior chest pain and a tumor in the sternum. The patient was diagnosed as primitive neuroectodermal tumor of the sternum by core biopsy of the lesion. She received 2 cycles of preoperative chemotherapy with vincristine, doxorubicin, cyclophosphamide, ifosfamide, etoposide. She underwent a total sternectomy with resection of adjacent bilateral costal cartilages and sternal ends of the clavicles. The skeletal defect of chest wall was reconstructed by polypropylene mesh-resin sandwich. The myocutaneus defect was reconstructed by the pedicled latissimus dorsi myocutaneus flap and the bilateral breast flaps. The postoperative course was uneventful and adjuvant radiotherapy was started 6 weeks after the operation. She died of distant metastases 3 months after the operation, although this patient was free from local recurrence.


Asunto(s)
Tumores Neuroectodérmicos Primitivos/cirugía , Esternón/cirugía , Neoplasias Torácicas/cirugía , Pared Torácica/cirugía , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Proteínas Bacterianas , Quimioterapia Adyuvante , Terapia Combinada , Femenino , Humanos , Proteínas de Transporte de Membrana , Persona de Mediana Edad , Radioterapia Adyuvante , Procedimientos de Cirugía Plástica , Procedimientos Quirúrgicos Torácicos
5.
Acta Physiol Scand ; 178(1): 25-32, 2003 May.
Artículo en Inglés | MEDLINE | ID: mdl-12713512

RESUMEN

AIM: The purposes of this study were to determine the age-related changes in the tendon-aponeurosis structures and to investigate the effects of low-load resistance training on the tendon-aponeurosis structures in middle-aged and elderly women. METHODS: Fifty-one women (55.8 +/- 13.7 years, range: 21-77 years) volunteered to take part in the present study. Furthermore, 11 middle-aged and elderly women (49.7 +/- 9.2 years) performed the low-load resistance training, i.e. squat using body weight, for 6 months. The elongation of the tendon and aponeurosis of the vastus lateralis muscle was directly measured by ultrasonography, while the subjects performed ramp isometric knee extension up to the voluntary maximum, followed by a ramp relaxation. The relationship between the estimated muscle force (Fm) and tendon elongation (L) during the ascending phase was fitted to a linear regression, the slope of which was defined as stiffness. The percentage of the area within the Fm-L loop to the area beneath the curve during the ascending phase was calculated as hysteresis. RESULTS: Maximal strain (L/initial tendon length) and stiffness of the tendon-aponeurosis structures decreased significantly with ageing. In contrast, the hysteresis increased significantly with ageing. In addition, low-load resistance training produced no significant change in stiffness and hysteresis, but significantly increased the maximal elongation of tendon-aponeurosis structures from 23.3 +/- 2.1 mm to 24.8 +/- 2.2 mm (P = 0.045). CONCLUSION: These results suggest that increasing age results in a decrease in the elasticity of tendon-aponeurosis structures and an increase in their viscosity. Furthermore, the low-load resistance training made the elasticity of tendon-aponeurosis structures increase.


Asunto(s)
Envejecimiento/fisiología , Ejercicio Físico/fisiología , Músculo Esquelético/fisiología , Tendones/fisiología , Adulto , Anciano , Peso Corporal/fisiología , Elasticidad , Femenino , Humanos , Contracción Isométrica/fisiología , Articulación de la Rodilla , Persona de Mediana Edad , Músculo Esquelético/diagnóstico por imagen , Estrés Mecánico , Tendones/diagnóstico por imagen , Ultrasonografía , Viscosidad
6.
Scand J Plast Reconstr Surg Hand Surg ; 35(3): 329-30, 2001 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11680405

RESUMEN

There have been recent reports of acute compartment syndrome secondary to suction injuries of the hands of children. We report the case of a 68-year-old patient who developed an acute compartment syndrome of the forearm after his arm had been sucked into an exhaust port. He was treated by emergency fasciotomies and the wound was closed five days later with a small skin graft. His recovery was uneventful.


Asunto(s)
Síndromes Compartimentales/etiología , Traumatismos del Antebrazo/complicaciones , Succión/efectos adversos , Enfermedad Aguda , Anciano , Síndromes Compartimentales/cirugía , Traumatismos del Antebrazo/cirugía , Humanos , Masculino
7.
J Appl Physiol (1985) ; 91(5): 2035-40, 2001 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11641341

RESUMEN

Muscle fascicle lengths of vastus lateralis (VL) muscle were measured in five healthy men during slow pedaling to investigate the interaction between muscle fibers and tendon. Subjects cycled at a pedaling rate of 40 rpm (98 W). During exercise, fascicle lengths changed from 91 +/- 7 (SE) to 127 +/- 5 mm. It was suggested that fascicles were on the descending limb of their force-length relationship. The average shortening velocity of fascicle was greater than that of muscle-tendon complex in the first half of the knee extension phase and was less in the second half. The maximum shortening velocity of fascicle in the knee extension phase was less than that of muscle-tendon complex by 22 +/- 9%. These discrepancies in velocities were mainly caused by the elongation of the tendinous tissue. It was suggested that the elasticity of VL tendinous tissue enabled VL fascicles to develop force at closer length to their optimal length and kept the maximum shortening velocity of VL fascicles low during slow pedaling.


Asunto(s)
Ciclismo/fisiología , Fibras Musculares Esqueléticas/fisiología , Músculo Esquelético/anatomía & histología , Músculo Esquelético/fisiología , Tendones/anatomía & histología , Tendones/fisiología , Adulto , Algoritmos , Electromiografía , Humanos , Masculino , Contracción Muscular/fisiología , Músculo Esquelético/citología , Reproducibilidad de los Resultados
8.
Acta Physiol Scand ; 172(4): 249-55, 2001 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-11531646

RESUMEN

Muscle force (MF) is linearly related to physiological cross-sectional area (CSA), which is obtained from muscle volume (MV) divided by fibre length. Taking into account the fact that joint torque (TQ) is determined by MF multiplied by the moment arm, the maximal TQ would be a function of MV. This proposition was tested in the present study by investigating the relationship between MV and TQ for elbow flexor (EF) and extensor (EE) muscles of 26 males. The MVs of EF and EE were determined from a series of muscle CSA by magnetic resonance imaging (MRI), and pennation angle (theta) and FL by ultrasonography (US). Maximal isometric TQ was measured at right angle of elbow joint for EF and EE. There was a highly significant correlation between MV and TQ both for EF and EE (r=0.95 and 0.96 respectively) compared with that between muscle CSA and TQ, suggesting the dependence of TQ on MV. Furthermore, prediction equations for MV (MVULT) from muscle thickness (MT) measured by US was developed with reference to MVMRI by the MRI on 26 subjects, and the equations were applied to estimate MV of healthy university students (CON; 160 males) and sports athletes (ATH; 99 males). There were significant linear relationships between MVULT and TQ both for EF (r=0.783) and EE (r=0.695) for all subjects (n=259). The MVULT was significantly higher in ATH (by 32% for EF and 33% for EE, respectively) than in CON. Similarly, significantly greater TQ was observed in ATH (by 35% for EF, 37% for EE, respectively). The theta for EE showed no difference between both groups (17.8 degrees for CON and 17.5 degrees for ATH). On the other hand, the TQ to MV ratio were identical for CON and ATH. The results reveal that the muscle volume of the upper arm is a major determinant of joint torque (TQ), regardless of athletic training.


Asunto(s)
Articulación del Codo/fisiología , Músculo Esquelético/anatomía & histología , Músculo Esquelético/fisiología , Torque , Adulto , Anatomía Transversal , Articulación del Codo/anatomía & histología , Articulación del Codo/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Músculo Esquelético/diagnóstico por imagen , Aptitud Física/fisiología , Estándares de Referencia , Ultrasonografía
9.
J Craniofac Surg ; 12(2): 136-40, 2001 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11314623

RESUMEN

Frequent three-dimensional computed tomography scanning may cause deterioration of the lenses of the eye, which are susceptible to x-rays. The authors performed an experimental study using a phantom head to establish an optimized three-dimensional computed tomography scan protocol for longitudinal morphological estimation in craniofacial surgery. Volume computed tomography scans were performed using a Hi-Speed Advantage SG CT scanner (GE Medical Systems, Milwaukee, WI) in the axial plane with a combination of scan parameters of varied values. The radiation doses induced by each scanning were measured using thermoluminescent dosimeter chips attached to the position of the lenses in the phantom. Two-dimensional images in the coronal plane and three-dimensional images of the osseous surface were generated from each accumulated data set. For each scan parameter, the images generated from data accumulated using different values were compared. The study showed that lens radiation dose increased with tube potential and was almost directly proportional to tube current and 1/pitch. The slice thickness did not affect lens radiation doses significantly. Images with good contrast resolution and low artifact level sufficient for estimating morphological changes were obtained using a low tube potential of 100 kVp and a tube current of 100 mA. In regard to z-axis spatial resolution, a slice thickness of less than 3 mm was required for precisely pointing out bony edges in the two-dimensional reformation images. These results led us to conclude that volume computed tomography for longitudinal examination in craniofacial surgery should be kept to a minimum frequency and performed using a low-dose technique, small slice thickness, and large pitch.


Asunto(s)
Cara/cirugía , Imagenología Tridimensional , Cristalino/efectos de la radiación , Cráneo/cirugía , Tomografía Computarizada por Rayos X/métodos , Artefactos , Relación Dosis-Respuesta en la Radiación , Cara/diagnóstico por imagen , Cara/efectos de la radiación , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Estudios Longitudinales , Planificación de Atención al Paciente , Fantasmas de Imagen , Dosis de Radiación , Intensificación de Imagen Radiográfica/métodos , Cráneo/diagnóstico por imagen , Cráneo/efectos de la radiación , Dosimetría Termoluminiscente/instrumentación , Tomógrafos Computarizados por Rayos X
10.
Ryoikibetsu Shokogun Shirizu ; (28 Pt 3): 574-6, 2000.
Artículo en Japonés | MEDLINE | ID: mdl-11043329
11.
Chem Pharm Bull (Tokyo) ; 48(10): 1549-57, 2000 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-11045468

RESUMEN

A practical synthesis of 1,2,3,4,5,6-hexahydro-1,5-imino-10-hydroxy-9-methoxy-3,8,11-trimethyl-3- benzazocin-4-one (3) as an ABC ring model compound of ecteinascidin 743 and safracins from 3-hydroxy-4-methoxy-5-methylbenzaldehyde (7) is described. The overall yield in 15 steps is 27%.


Asunto(s)
Dioxoles/síntesis química , Isoquinolinas/síntesis química , Modelos Moleculares , Dioxoles/química , Isoquinolinas/química , Estructura Molecular , Análisis Espectral , Tetrahidroisoquinolinas , Trabectedina
13.
Acta Virol ; 43(1): 45-7, 1999 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10672343

RESUMEN

Cohesive ends (cos sites) were detected in the genome of temperate KK-88 phage in Bacillus thuringiensis after analysis of the phage DNA generated by the 3'-5' exonuclease activity of Klenow fragment of DNA polymerase I. In addition, unlike the 5'-protruding ends of coliphage lambda genome, the ends of KK-88 phage genome were found to be 3'-protruding. The restriction map of the phage genome was also constructed on the basis of position of the cos fragments.


Asunto(s)
Bacillus thuringiensis/virología , Bacteriófagos/genética , ADN de Cadena Simple/química , ADN Viral/química , Genoma Viral , ADN de Cadena Simple/análisis , ADN Viral/análisis , Electroforesis en Gel de Agar , Mapeo Restrictivo
14.
Leukemia ; 11 Suppl 3: 444-5, 1997 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9209419

RESUMEN

An alternatively splicing of the rat erythropoietin receptor (EpoR) gene was identified in normal and erythroleukemia cells by the reverse transcription PCR method. Insertion of a 105 bp fragment at the region corresponding to the extracellular domain of rat EpoR was found. The insert sequence, which encodes additional 21 amino acids, is similar to that previously found in the mouse EpoR gene, however, has an additional 27 bp direct repeat. Due to the presence of a stop codon in the insert, the alternative transcript is translated to a truncated and soluble form of EpoR which is preferentially expressed in liver, spleen, kidney, heart, and bone marrow cells as well as cultured erythroleukemia cells. These findings suggest that alternative splicing of the EpoR gene may play an important role in proliferation and differentiation of rat erythroid cells.


Asunto(s)
Empalme Alternativo , Leucemia Eritroblástica Aguda/metabolismo , Receptores de Eritropoyetina/biosíntesis , Animales , Secuencia de Bases , Cartilla de ADN , Elementos Transponibles de ADN , Ratones , Especificidad de Órganos , Reacción en Cadena de la Polimerasa , Biosíntesis de Proteínas , Ratas , Receptores de Eritropoyetina/genética , Valores de Referencia , Secuencias Repetitivas de Ácidos Nucleicos , Células Tumorales Cultivadas
15.
Oncogene ; 11(10): 1939-46, 1995 Nov 16.
Artículo en Inglés | MEDLINE | ID: mdl-7478511

RESUMEN

To investigate the biological function of p53 in colon carcinoma cells, a wild-type p53 expression plasmid under the control of the human cytomegalovirus promoter was stably transfected into the human colon adenocarcinoma cell line WiDr, which carries a mutation of the p53 gene at codon 273. Exogenous wild-type p53 transcripts were detected at various expression levels in 8 of 117 G418-resistant clones. The growth rates of the wild-type p53+ clones in culture did not change significantly. The efficiency of colony formation in soft agar, however, was completely suppressed in two wild-type p53+ clones. This is the first to demonstrate the feasibility of stable transfection of the wild-type p53 gene under the control of non-inducible promoter in human colon cancer cells. The major alteration found was that wild-type p53+ cells which were incubated with anti-Fas IgM showed marked cytolysis with preferential over-expression of wild-type p53 accompanied by overexpression of a cyclin-dependent kinase inhibitor, WAF1, whereas the endogenous mutant p53 retained its expression level. The findings suggest that a Fas-initiated pathway is incidentally linked to a p53-dependent apoptotic pathway through the reconstituted wild-type p53 gene in WiDr cells. This model should help elucidating the additional role of the p53 tumor suppressor gene and the mechanism of apoptosis in colon carcinoma cells.


Asunto(s)
Adenocarcinoma/genética , Apoptosis/genética , Neoplasias del Colon/genética , Glicoproteínas de Membrana/fisiología , Proteína p53 Supresora de Tumor/fisiología , Adenocarcinoma/patología , Anticuerpos/farmacología , Apoptosis/fisiología , Secuencia de Bases , Neoplasias del Colon/patología , Inhibidor p21 de las Quinasas Dependientes de la Ciclina , Ciclinas/metabolismo , Proteína Ligando Fas , Regulación Neoplásica de la Expresión Génica , Genes p53 , Humanos , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/inmunología , Datos de Secuencia Molecular , Fenotipo , ARN Mensajero/metabolismo , Transducción de Señal/fisiología , Transfección , Células Tumorales Cultivadas , Proteína p53 Supresora de Tumor/genética
16.
Biochim Biophys Acta ; 1215(1-2): 183-9, 1994 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-7948002

RESUMEN

To clarify the role of cholesterol sulfate (CS) in the process of epidermal differentiation in vivo, we investigated the concentration of CS and the specific activities of cholesterol sulfotransferase (CST), cholesterol sulfate sulfatase (CS sulfatase) and epidermal transglutaminase (ETG) in murine skin in the pre- and postnatal periods. In the skin at day 14 of gestation, CS was not detected with TLC and the specific activities of all the enzymes were low. However, concomitant with the formation of the multilayered structure of the epidermis (at day 16), the specific activities of CST steeply increased. Although the insoluble CS sulfatase in the microsomal fraction remained at a relatively constant level, the soluble CST in the cytosol fraction showed a 6-fold increase from day 14 to day 16, and the activity decreased continuously in the following period, reaching one forty-sixth of the maximum level at 4-months-old mice. Reflected by the increase in activity, CS was detected in fetal skin at day 15, and the concentration in epidermis significantly increased during the gestation period, reaching maximum level at day 17. Furthermore, the changes in the concentration of cholesterol sulfate were identical with those of N-(O-linoleoyl)-omega-hydroxy fatty acyl sphingosine and its glucosyl derivative in the epidermis. On the other hand, the specific activity of ETG increased after birth. Thus, the activation of CST and ETG was shown to occur separately in association with the formation of the multilayered structure and thickening of the stratum corneum, respectively.


Asunto(s)
Piel/embriología , Sulfotransferasas/metabolismo , Transglutaminasas/metabolismo , Animales , Animales Recién Nacidos , Diferenciación Celular , Ésteres del Colesterol/análisis , Feto , Expresión Génica , Lípidos/análisis , Ratones , Ratones Endogámicos ICR , Piel/química , Piel/crecimiento & desarrollo , Sulfotransferasas/genética , Transglutaminasas/genética
17.
Acta Paediatr Jpn ; 35(4): 352-3, 1993 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8379329

RESUMEN

Two girls with acute lymphocytic leukemia (ALL) are reported. There were difficulties in removing their central venous catheters inserted from a peripheral vein. One girl required surgery under general anesthesia for the removal. The other patient received continuous infusion of low dose urokinase from a distal peripheral vein. The residual catheter was then removed successfully.


Asunto(s)
Cateterismo Venoso Central/efectos adversos , Cateterismo Periférico/efectos adversos , Catéteres de Permanencia/efectos adversos , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Niño , Falla de Equipo , Femenino , Fibrina/fisiología , Humanos , Infusiones Intravenosas , Activador de Plasminógeno de Tipo Uroquinasa/administración & dosificación , Activador de Plasminógeno de Tipo Uroquinasa/uso terapéutico
18.
Keio J Med ; 41(3): 154-60, 1992 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-1434310

RESUMEN

The objective of this study was to reveal the health effects of acrylonitrile (AN) in seven Japanese acrylic fiber manufacturing factories. The study subjects were 157 AN-exposed male shift workers who had been exposed to AN for 17 years on the average and 537 control workers whose working conditions were similar to those of the AN-exposed workers. The seven factories were classified into two groups according to their AN exposure levels in 1987, and also into three groups on the basis of 1976 exposure levels. The most highly exposed group of subjects showed a mean AN concentration of 1.13 ppm by personal sampling. Medical examination failed to detect any health effects attributable to long-term exposure to AN, although the existence of some symptoms of acute irritation could not be completely ruled out. The results of this study may provide a "no observed effects level" for human on-the-job exposure with regard to the health effects examined here.


Asunto(s)
Acrilonitrilo/efectos adversos , Tamizaje Masivo , Exposición Profesional , Estudios Transversales , Humanos
19.
Pediatr Neurol ; 6(4): 265-8, 1990.
Artículo en Inglés | MEDLINE | ID: mdl-2206159

RESUMEN

We report 2 patients with childhood autosomal recessive muscular dystrophy. Both patients had slight muscle weakness without enlargement of the calf muscles or involvement of the facial muscles. Their clinical courses are static. Muscle histology revealed characteristic features of muscular dystrophy. Dystrophin was identifiable in the sarcolemma of both patients by immunocytochemical staining with an antidystrophin antibody. At an early age, immunocytochemical analysis with antidystrophin antibody was useful in distinguishing between childhood autosomal recessive and Duchenne muscular dystrophies.


Asunto(s)
Aberraciones Cromosómicas/genética , Distrofina/análisis , Genes Recesivos/genética , Músculos/patología , Distrofias Musculares/genética , Biopsia , Niño , Preescolar , Aberraciones Cromosómicas/diagnóstico , Trastornos de los Cromosomas , Diagnóstico Diferencial , Técnica del Anticuerpo Fluorescente , Humanos , Masculino , Distrofias Musculares/diagnóstico
20.
Eur Neurol ; 30(1): 52-5, 1990.
Artículo en Inglés | MEDLINE | ID: mdl-2298228

RESUMEN

The present report describes the histochemical and biochemical findings of biopsied muscles in a 26-year-old male with myophosphorylase deficiency. Histochemical analysis of the first biopsy specimen revealed that the phosphorylase activity was absent, corresponding to an absent band at 94,000 Da on the basis of sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Histochemically the second biopsy specimen showed a partial phosphorylase activity of type 2B fibers, corresponding to a weakly staining band at 94,000 Da on the basis of SDS-PAGE. The present study supports the hypothesis that myophosphorylase deficiency is essentially a single gene disorder, characterized by absence or marked reduction of the myophosphorylase protein.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo V/patología , Músculos/patología , Fosforilasas/análisis , Adulto , Biopsia , Enfermedad del Almacenamiento de Glucógeno Tipo V/enzimología , Histocitoquímica , Humanos , Masculino , Músculos/enzimología
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