Asunto(s)
Alelos , Amiloide/genética , Polimorfismo Genético , Precursores de Proteínas/genética , Scrapie/genética , Ovinos/genética , Animales , Secuencia de Bases , Codón/genética , Cartilla de ADN , Electroforesis en Gel de Agar , Lisina/genética , Datos de Secuencia Molecular , Oklahoma , Priones , Análisis de Secuencia de ADNRESUMEN
1,144 sheep belonging to 21 breeds and known crosses were sequence analyzed for polymorphisms in the ovine PRNP gene. Genotype and allele frequencies of polymorphisms in PRNP known to confer resistance to scrapie, a fatal neurodegenerative disease of sheep, are reported. Known polymorphisms at codons 136 (A/V), 154 (H/R) and 171 (Q/R/H/K) were identified. The frequency of the 171R allele known to confer resistance to type C scrapie was 53.8% and the frequency of the 136A allele known to influence the resistance to type A scrapie was 96.01%. In addition, we report the identification of five new polymorphisms at codons 143 (H/R), 167 (R/S), 180 (H/Y), 195 (T/S) and 196 (T/S). We also report the identification of a novel allele (S/R) at codon 138.
Asunto(s)
Frecuencia de los Genes/genética , Variación Genética/genética , Polimorfismo Genético/genética , Proteínas PrPC/genética , Scrapie/genética , Oveja Doméstica/genética , Animales , Codón/genética , Femenino , Masculino , OklahomaRESUMEN
This study evaluated the cutaneous pressure threshold of subjects with and without a clinical diagnosis of brachial plexus compression in the thoracic inlet, usually termed thoracic outlet syndrome (TOS). Sixty-one subjects (102 arms) made up the control population; 11 subjects 120 arms) made up the TOS population. Assessment by two upper-extremity specialists preceded the testing. The one-point cutaneous pressure threshold was measured with the Pressure-Specifying Sensory Device (PSSD) on the pulp of both the index and little finger (upper and lower brachial plexus distributions) with the arm in the unprovoked (adducted) and provoked (abducted 180 degrees) positions. In the control subjects, there was no significant change in the cutaneous pressure threshold between unprovoked and provoked positions. In contrast in patients with TOS, there was a significant increase in the cutaneous pressure threshold at both sites (p < .0001 ) between the unprovoked and the provoked positions. Furthermore, the cutaneous pressure threshold for patients with TOS was significantly higher in both positions than it was in the controls (p < .0001 ). It was concluded that measurement of changes in the cutaneous pressure threshold with the PSSD in distal sensory targets of the upper and lower trunk can identify patients symptomatic for compression, when the brachial plexus is provoked as part of the testing sequence.
Asunto(s)
Síndrome del Desfiladero Torácico/diagnóstico , Adulto , Estudios de Casos y Controles , Femenino , Dedos , Humanos , Masculino , Presión , Umbral Sensorial , Piel/inervaciónRESUMEN
The biomechanics of ring avulsion injuries was studied in a cadaveric simulation model. Custom-fitted metal rings attached to a rigid frame were placed over the proximal phalanx of fresh or thawed fresh-frozen specimens. Ring avulsion injuries in 44 fingers were produced with a standardized force applied to the proximal ulna. The progress of injury was evaluated with simultaneous high-speed cinematography and continuous force measurements. The injured digits were x-rayed and categorized according to Urbaniak's classification. Continuous force measurements produced similar curves for all classes of injuries. The average maximum force resulting in class I injuries was 80 N. The average maximum force producing amputation in class III injuries was 154 N, a force much lower than expected. Force measurements for class II injuries were nearly identical to those of class III. This surprisingly minimal force resulting in digit amputation was explained by high-speed cinematography, which showed that the rings tilt on the digits concentrating disruption forces as a result of ring angulation on the finger. Incomplete amputations were due to loss of ring purchase by skin flap eversion. Finally, comparison of high-speed cinematography with force curves suggests that skin rupture rather than skeletal or tendon disruption accounted for the maximum force during ring avulsion injury.
Asunto(s)
Amputación Traumática/fisiopatología , Traumatismos de los Dedos/fisiopatología , Luxaciones Articulares/fisiopatología , Amputación Traumática/patología , Fenómenos Biomecánicos , Traumatismos de los Dedos/patología , Humanos , Luxaciones Articulares/patología , Rotura , Piel/lesiones , Piel/patología , Piel/fisiopatología , Soporte de Peso/fisiologíaRESUMEN
Investigation of postmortem blood can reveal the presence of significant ethanol levels. However, in some instances it cannot easily be determined if the source of ethanol is from ingestion or from postmortem endogenous fermentation by contaminating microbes. Described here is a robust polymerase chain reaction (PCR)-based method for detecting the presence of common ethanol producing microbial contaminants in human blood. A set of DNA primers were designed for use in PCR to amplify and detect the genomic DNA from humans and three test microorganisms Escherichia coli, Proteus vulgaris, and Candida albicans. A rapid and reproducible protocol was developed for isolating genomic DNA from mixed human blood-microorganism samples that yields a suitable template for PCR. The organism-specific primer pairs can detect the presence of the target microorganisms in human blood at concentrations as low as 10 colony forming units/mL. The PCR products readily can be detected after agarose gel electrophoresis. This method provides an additional means of rapidly identifying microbial contaminants in postmortem blood samples.
Asunto(s)
ADN Bacteriano/sangre , Medicina Legal/métodos , Reacción en Cadena de la Polimerasa/métodos , Cambios Post Mortem , Candida albicans/aislamiento & purificación , Candida albicans/metabolismo , ADN/análisis , Escherichia coli/aislamiento & purificación , Escherichia coli/metabolismo , Etanol/sangre , Humanos , Proteus vulgaris/aislamiento & purificación , Proteus vulgaris/metabolismoRESUMEN
Endoscopic brow lift has now become a well-established procedure for restoring a youthful brow. Multiple techniques have been described for fixation of the scalp; however, these methods do not allow for direct positioning of the brow. A simple method is described that establishes precise and direct brow fixation using K-wires. Twelve female patients underwent direct fixation of the brow with one or more K-wires to the supraorbital rim. No complications occurred as a result of this technique. Direct brow fixation with K-wires appears to be a simple effective technique for precise restoration of brow position.
Asunto(s)
Endoscopía/métodos , Frente/cirugía , Procedimientos de Cirugía Plástica/métodos , Adulto , Fijadores Externos , Femenino , Estudios de Seguimiento , Humanos , Satisfacción del PacienteRESUMEN
A modification of the standard electrodiagnostic test was developed in an effort to provide a more sensitive electrodiagnostic evaluation in radial tunnel syndrome. Radial motor nerve latency recordings were obtained in 3 different forearm positions: neutral, passive supination, and passive pronation. The maximal difference in these recordings, the differential latency, in 25 patients with radial tunnel syndrome of greater than 6 months duration (test group) was compared with those in 25 asymptomatic volunteers (control group). Differential latency recordings were obtained in all patients in the test group before and after surgery. Radial nerves that were compressed demonstrated a significantly greater differential latency (0.44+/-0.12 ms) versus controls (0.12+/-0.008 ms). Following radial nerve decompression, differential motor latencies in the test group decreased below control values, demonstrating a resolution of the provoked electrical response with a postoperative differential latency of 0.07+/-0.05 ms. Our results demonstrate the differential motor latency of the radial nerve to be a sensitive electrodiagnostic tool in patients with radial tunnel syndrome. A differential latency of > or =0.30 ms was considered indicative of radial tunnel syndrome.
Asunto(s)
Electromiografía/métodos , Síndromes de Compresión Nerviosa/diagnóstico , Conducción Nerviosa/fisiología , Nervio Radial , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Síndromes de Compresión Nerviosa/cirugía , Valores de Referencia , Sensibilidad y EspecificidadRESUMEN
Fungi comprise a large monophyletic group of uni- and multicellular eukaryotic organisms in which many species are of economic or medical importance. Fungal genomes are variable in size (13-42 Mb), and multicellular species support true spatial and temporal cell-type-specific regulation of gene expression. In a 38.8-kb Aspergillus nidulans contiguous genomic DNA region, a transposable element and 12 potential genes were identified, 7 similar to genes in other organisms. This observation is consistent with the prediction that multicellular ascomycetous fungi harbor 8000-9000 genes in a 36-Mb average genome. Thus, the genomic DNA sequence of filamentous fungi will provide substantial amounts of genetic and functional information that is not available in yeast, for the human and other metazoan minimal gene complement.
Asunto(s)
Ascomicetos/genética , Genes Fúngicos , Genoma Fúngico , Animales , Secuencia de Bases , Mapeo Cromosómico , Cromosomas Fúngicos , Clonación Molecular , Cósmidos , Elementos Transponibles de ADN , ADN de Hongos/genética , Humanos , Datos de Secuencia MolecularRESUMEN
The genetic transformation mutant Rd(DB117)rec- has a pleiotropic phenotype that includes reduced levels of phage recombination. Physical mapping experiments showed that this strain has a 78.5-kbp insertion in the rec-2 gene. The rec-2 dependence of phage recombination was reexamined to determine whether the defective phenotype in Rd(DB117)rec- was due to the simple disruption of the rec-2 gene or whether trans-acting factors from the inserted DNA were responsible. Analysis of strains with transposon insertions in the rec-2 gene showed that they were also defective for phage recombination. Therefore, the phage recombination defect was due solely to the disruption of the rec-2 gene. Strain KB6 is proficient for phage recombination but has a defect in genetic transformation resembling that of Rd(DB117)rec-. The transformation defect of KB6 could be complemented by the wild-type rec-2 gene, showing that the rec-2 contributions to genetic transformation and phage recombination were uncoupled in this strain. The rec-2-dependent phenotype of KB6 suggests that the rec-2 gene participates in genetic transformation and phage recombination in different ways.
Asunto(s)
Bacteriófagos/genética , Genes Bacterianos , Haemophilus influenzae/genética , Recombinación Genética , Mapeo Cromosómico , Elementos Transponibles de ADN , Reordenamiento Génico , Prueba de Complementación Genética , Transformación GenéticaRESUMEN
Chromosomal DNAs from exponential-phase and competent cells of Haemophilus influenzae were examined by electron microscopy to determine whether the chromosome undergoes structural changes during competence development. Single-stranded gaps and single-stranded tails formed in chromosomal DNA during competence development. The generation of gaps was dependent on the rec-2 function. Since the rec-2 mutant is defective in the translocation of donor DNA, it was inferred that the gaps were involved in the translocation step of transformation. The generation of single-stranded tails was independent of the rec-1 and rec-2 genes. Therefore, these structures were assumed to play no direct role in the interaction of donor and recipient DNAs during transformation. Gaps were preferentially associated with a readily denaturable, possibly A + T-rich fraction of the genome. This finding raised the possibility that hot spots for transformation might be associated with A + T-rich DNA.