RESUMEN
Shoulder surgery has emerged from being a marginalised sub-speciality to being an area of much research and advancement within the last seventy years. This has been despite the complexity of the joint, and success majorly rests on parallel development of biomedical technology. This article looks at the past and present of shoulder surgery and discusses future directions in the speciality.
Asunto(s)
Puntos de Rotura del Cromosoma , Proteína de la Leucemia Mieloide-Linfoide/genética , Proteínas de Fusión Oncogénica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Niño , Preescolar , Estudios de Cohortes , Proteínas de Unión al ADN/genética , Inhibidores Enzimáticos/farmacología , Femenino , N-Metiltransferasa de Histona-Lisina , Humanos , Lactante , Masculino , Proteínas Nucleares/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidad , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Embarazo , Efectos Tardíos de la Exposición Prenatal , Recombinación Genética , Tasa de Supervivencia , Inhibidores de Topoisomerasa II , Factores de Elongación TranscripcionalRESUMEN
Fusion between ETV6 and RUNX1 defines the largest genetic subgroup in childhood ALL. The genomic fusion site, unique to individual patients and specific for the malignant clone, represents an ideal molecular marker for quantification of minimal residual disease. Sequencing of DNA breakpoints has been difficult due to the extended size of the respective breakpoint cluster regions. We therefore evaluated a specially designed multiplex long-range PCR assay in 65 diagnostic bone marrow samples for its suitability in routine use. Resulting fusion sites and breakpoints derived from previous studies were subject to cluster analysis to identify potential sequence motifs involved in translocation initiation.
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Biomarcadores de Tumor/genética , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Proteínas de Fusión Oncogénica/genética , Reacción en Cadena de la Polimerasa/métodos , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Niño , Preescolar , Análisis Mutacional de ADN/métodos , Femenino , Humanos , Masculino , Neoplasia ResidualRESUMEN
BACKGROUND: Infantile hypophosphatasia (IH) is an inherited disorder characterized by defective bone mineralization and a deficiency of alkaline phosphatase activity. OBJECTIVE/DESIGN: The aim of the study was to evaluate a new compound heterozygous TNSALP mutation for its residual enzyme activity and localization of the comprised amino acid residues in a 3D-modeling. PATIENT: We report on a 4-week old girl with craniotabes, severe defects of ossification, and failure to thrive. Typical clinical features as low serum alkaline phosphatase, high serum calcium concentration, increased urinary calcium excretion, and nephrocalcinosis were observed. Vitamin D was withdrawn and the patient was started on calcitonin and hydrochlorothiazide. Nonetheless, the girl died at the age of 5 months from respiratory failure. RESULTS: Sequence analysis of the patient's TNSALP gene revealed two heterozygous mutations [c.653T>C (I201T), c.1171C>T (R374C)]. Transfection studies of the unique I201T variant in COS-7 cells yielded a mutant TNSALP protein with only a residual enzyme activity (3.7%) compared with wild-type, whereas the R374C variant was previously shown to reduce normal activity to 10.3%. 3D-modeling of the mutated enzyme showed that I201T resides in a region that does not belong to any known functional site. CONCLUSION: We note that I201, which has been conserved during evolution, is buried in a hydrophobic pocket and, therefore, the I>T-change should affect its functional properties. Residue R374C is located in the interface between monomers and it has been previously suggested that this mutation affects dimerization. These findings explain the patient's clinical picture and severe course.
Asunto(s)
Fosfatasa Alcalina/genética , Hipofosfatasia/genética , Mutación , Fosfatasa Alcalina/deficiencia , Animales , Células COS , Chlorocebus aethiops , ADN/sangre , ADN/genética , Exones , Femenino , Heterocigoto , Humanos , Recién Nacido , Isoenzimas/genética , Reacción en Cadena de la PolimerasaAsunto(s)
Prueba de Histocompatibilidad , Trasplante de Riñón/inmunología , Riñón , Donantes de Tejidos/clasificación , Obtención de Tejidos y Órganos/organización & administración , Adolescente , Adulto , Transfusión Sanguínea , Cadáver , Causas de Muerte , Niño , Europa (Continente) , Femenino , Alemania , Rechazo de Injerto/epidemiología , Humanos , Trasplante de Riñón/mortalidad , Trasplante de Riñón/fisiología , Masculino , Reoperación , Tasa de Supervivencia , Obtención de Tejidos y Órganos/métodos , Listas de EsperaAsunto(s)
Rechazo de Injerto/fisiopatología , Trasplante de Riñón/inmunología , Enfermedad Aguda , Antígenos CD/análisis , Linfocitos B/inmunología , Cadáver , Rechazo de Injerto/epidemiología , Rechazo de Injerto/terapia , Supervivencia de Injerto , Antígenos HLA-DR/análisis , Humanos , Inmunoglobulinas/sangre , Inmunofenotipificación , Inmunosupresores/uso terapéutico , Trasplante de Riñón/mortalidad , Trasplante de Riñón/patología , Plasmaféresis , Prevalencia , Recurrencia , Factores de Riesgo , Tasa de Supervivencia , Linfocitos T/inmunología , Donantes de Tejidos , Trasplante HomólogoAsunto(s)
Arteriosclerosis/epidemiología , Colesterol/sangre , Inmunosupresores/efectos adversos , Trasplante de Riñón/inmunología , Triglicéridos/sangre , Aumento de Peso , Adulto , Factores de Edad , Anciano , Antihipertensivos/uso terapéutico , Azatioprina/efectos adversos , Cortisona/efectos adversos , Ciclosporina/efectos adversos , Diabetes Mellitus/epidemiología , Estudios de Seguimiento , Rechazo de Injerto/epidemiología , Rechazo de Injerto/inmunología , Humanos , Hipertensión/epidemiología , Lipoproteínas/sangre , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Factores de Riesgo , Factores de TiempoAsunto(s)
Rechazo de Injerto/epidemiología , Trasplante de Riñón/fisiología , Factores de Edad , Antígenos CD/análisis , Linfocitos T CD8-positivos/inmunología , Proteínas del Sistema Complemento/análisis , Rechazo de Injerto/prevención & control , Rechazo de Injerto/terapia , Antígenos HLA-B/inmunología , Antígenos HLA-DR , Prueba de Histocompatibilidad , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Inmunoglobulina M/sangre , Inmunosupresores/uso terapéutico , Trasplante de Riñón/inmunología , Recurrencia , Factores de Riesgo , Donantes de TejidosAsunto(s)
Infecciones por Citomegalovirus/terapia , Infecciones por Herpesviridae/terapia , Herpesvirus Humano 4 , Herpesvirus Humano 6 , Trasplante de Riñón/inmunología , Muromonab-CD3/uso terapéutico , Complicaciones Posoperatorias , Infecciones Tumorales por Virus/terapia , Adulto , Anticuerpos Antivirales/análisis , Relación CD4-CD8 , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/inmunología , Rechazo de Injerto/prevención & control , Infecciones por Herpesviridae/diagnóstico , Infecciones por Herpesviridae/inmunología , Humanos , Inmunoglobulina A/análisis , Pruebas Inmunológicas , Inmunosupresores/uso terapéutico , Subgrupos Linfocitarios , Masculino , Estudios Retrospectivos , Infecciones Tumorales por Virus/diagnóstico , Infecciones Tumorales por Virus/inmunologíaAsunto(s)
Ciclosporina/uso terapéutico , Inmunosupresores/uso terapéutico , Trasplante de Riñón , Neoplasias/epidemiología , Complicaciones Posoperatorias , Ciclosporina/efectos adversos , Femenino , Estudios de Seguimiento , Rechazo de Injerto/epidemiología , Humanos , Terapia de Inmunosupresión/métodos , Inmunosupresores/efectos adversos , Trasplante de Riñón/inmunología , Masculino , Persona de Mediana Edad , Factores de Riesgo , Factores de TiempoAsunto(s)
Inmunosupresores/uso terapéutico , Trasplante de Riñón/inmunología , Subgrupos Linfocitarios/inmunología , Linfoma de Células B/inmunología , Complicaciones Posoperatorias , Adulto , Antígenos CD/análisis , Azatioprina/uso terapéutico , Linfocitos B/inmunología , Ciclosporina/uso terapéutico , Infecciones por Herpesviridae/diagnóstico , Herpesvirus Humano 4/aislamiento & purificación , Humanos , Inmunosupresores/efectos adversos , Linfoma de Células B/etiología , Masculino , Prednisolona/uso terapéuticoAsunto(s)
Trasplante de Riñón/inmunología , Riñón , Preservación de Órganos/métodos , Donantes de Tejidos , Adulto , Factores de Edad , Antígenos CD/análisis , Frío , Complemento C4/análisis , Citometría de Flujo , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina G/sangre , Inmunoglobulina M/sangre , Isquemia , Insuficiencia Renal/epidemiología , Insuficiencia Renal/inmunología , Trasplante Homólogo , Resultado del TratamientoRESUMEN
OBJECTIVE: To compare the functional results after transplantation of locally obtained and assigned kidneys (without taking into account HLA typing) with those after transplantation of kidneys obtained via Eurotransplant (with HLA typing as principal criterion for assignment). PATIENTS AND METHODS: Between December 1983 and December 1993 a total of 236 kidneys were transplanted into 234 patients, 40 kidneys having been obtained via Eurotransplant and 196 removed locally and transplanted directly into patients on the local waiting list according to strict criteria: same blood group; waiting time since decision on transplantation; negative current crossmatch between recipient's serum and donor lymphocytes. Transplantation results were analysed retrospectively according to: ischaemia time, HLA mismatch, postoperative renal failure, postoperative renal function, rejection rate and transplant survival. Mean observation period was 55 months for the local and 50 months for the Eurotransplant kidneys. RESULTS: The number of HLA matches was higher in Eurotransplant group (P < 0.001). However, the cold ischaemia time was greater for this group (20.2 vs 15.7 hours; P < 0.01). Acute renal failure was less common with locally assigned kidneys (33 vs 53%: P < 0.02). There were no significant differences with regard to one-year and five-year renal function (serum creatinine; percentage of normal): 90.2% local vs 88.3% Eurotransplant and 81.8% vs 62.3%, respectively). Survival rates were also similar (96.9% local vs 95% Eurotransplant after one year, 94.4% vs 90% after 5 years). CONCLUSION: Local assignment by waiting time and blood group gave results that were similar to those via Eurotransplant based on HLA typing criteria.
Asunto(s)
Prueba de Histocompatibilidad , Trasplante de Riñón , Adolescente , Adulto , Factores de Edad , Anciano , Antígenos de Grupos Sanguíneos , Tipificación y Pruebas Cruzadas Sanguíneas , Interpretación Estadística de Datos , Femenino , Estudios de Seguimiento , Rechazo de Injerto , Supervivencia de Injerto , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de TiempoRESUMEN
A group of 113 patients were investigated after allogenic cadaver renal transplantation to analyse whether the small number of patients presenting acute rejection relapses could be defined by risk factors and whether there is an efficacious regimen for the safe therapy of recurrent rejection episodes. According to these results we are aware of a group of "highly reactive rejectors" especially within the younger recipients and there are further characteristics which can be identified as being associated with an elevated risk of recurrent acute rejection. By adequate antirejection therapy we can achieve a favourable transplant survival rate of 97% in the critical first year. An additional benefit may result from ALG consolidation related to suppression of the remaining CD8-positive human natural killer cells.