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1.
Clin Genet ; 68(5): 448-53, 2005 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-16207213

RESUMEN

An analysis of PAX1 in the development of vertebral malformations. Due to the sporadic occurrence of congenital vertebral malformations, traditional linkage approaches to identify genes associated with human vertebral development are not possible. We therefore identified PAX1 as a candidate gene in vertebral malformations and congenital scoliosis due to its mutation in the undulated mouse. We performed DNA sequence analysis of the PAX1 gene in a series of 48 patients with congenital vertebral malformations, collectively spanning the entire vertebral column length. DNA sequence coding variants were identified in the heterozygous state in exon 4 in two male patients with thoracic vertebral malformations. One patient had T9 hypoplasia, T12 hemivertebrae and absent T10 pedicle, incomplete fusion of T7 posterior elements, ventricular septal defect, and polydactyly. This patient had a CCC (Pro)-->CTC (Leu) change at amino acid 410. This variant was not observed in 180 chromosomes tested in the National Institute of Environmental Health Sciences (NIEHS) single nucleotide polymorphism (SNP) database and occurred at a frequency of 0.3% in a diversity panel of 1066 human samples. The second patient had a T11 wedge vertebra and a missense mutation at amino acid 413 corresponding to CCA (Pro)-->CTA (Leu). This particular variant has been reported to occur in one of 164 chromosomes in the NIEHS SNP database and was found to occur with a similar frequency of 0.8% in a diversity panel of 1066 human samples. Although each patient's mother was clinically asymptomatic and heterozygous for the respective variant allele, the possibility that these sequence variants have clinical significance is not excluded.


Asunto(s)
Mutación , Factores de Transcripción Paired Box/genética , Columna Vertebral/anomalías , Secuencia de Bases , Análisis Mutacional de ADN , Humanos , Morfogénesis/genética , Fenotipo , Escoliosis/genética , Enfermedades de la Columna Vertebral/genética
2.
Clin Orthop Relat Res ; (384): 110-5, 2001 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11249155

RESUMEN

The leading cause of death in the perioperative period after noncardiac surgery is a cardiac event. As the number of lumbar surgeries performed in patients older than 65 years of age continues to increase, this patient population with neurogenic claudications is an at risk group for a cardiac event because of their age and associated cardiac risk factors. The authors attempted to document by means of cardiac chemical stress testing, the prevalence of silent ischemic cardiac disease in patients with neurogenic claudication who were candidates for elective lumbar surgery. Eleven of 140 patients (8%) had induced cardiac wall abnormalities on stress testing, indicating myocardial ischemia. The only risk factors associated with cardiac ischemia were smoking and history of heart disease. It is recommended that dobutamine stress echocardiography be performed in patients undergoing elective spinal surgery for symptomatic spinal stenosis if they have a history of previous heart disease, smoking, or both.


Asunto(s)
Isquemia Miocárdica/complicaciones , Estenosis Espinal/cirugía , Anciano , Anciano de 80 o más Años , Algoritmos , Dobutamina , Ecocardiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Isquemia Miocárdica/diagnóstico , Complicaciones Posoperatorias , Estudios Prospectivos , Medición de Riesgo , Factores de Riesgo , Estenosis Espinal/complicaciones
5.
J Bone Joint Surg Am ; 79(10): 1481-8, 1997 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-9378733

RESUMEN

The purpose of the present study was to evaluate the accuracy of data regarding diagnoses of spinal disorders in administrative databases at eight different institutions. The records of 189 patients who had been managed for a disorder of the lumbar spine were independently reviewed by a physician who assigned the appropriate diagnostic codes according to the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM). The age range of the 189 patients was seventeen to eighty-four years. The six major diagnostic categories studied were herniation of a lumbar disc, a previous operation on the lumbar spine, spinal stenosis, cauda equina syndrome, acquired spondylolisthesis, and congenital spondylolisthesis. The diagnostic codes assigned by the physician were compared with the codes that had been assigned during the ordinary course of events by personnel in the medical records department of each of the eight hospitals. The accuracy of coding was also compared among the eight hospitals, and it was found to vary depending on the diagnosis. Although there were both false-negative and false-positive codes at each institution, most errors were related to the low sensitivity of coding for previous spinal operations: only seventeen (28 per cent) of sixty-one such diagnoses were coded correctly. Other errors in coding were less frequent, but their implications for conclusions drawn from the information in administrative databases depend on the frequency of a diagnosis and its importance in an analysis. This study demonstrated that the accuracy of a diagnosis of a spinal disorder recorded in an administrative database varies according to the specific condition being evaluated. It is necessary to document the relative accuracy of specific ICD-9-CM diagnostic codes in order to improve the ability to validate the conclusions derived from investigations based on administrative databases.


Asunto(s)
Bases de Datos Factuales , Sistemas de Información en Hospital , Vértebras Lumbares , Enfermedades de la Columna Vertebral/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Bases de Datos Factuales/normas , Grupos Diagnósticos Relacionados , Sistemas de Información en Hospital/normas , Humanos , Persona de Mediana Edad
6.
Spine (Phila Pa 1976) ; 22(11): 1270-5, 1997 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-9201868

RESUMEN

The use of administrative health care databases for the storage and retrieval of information is increasing. The data collection, entry, and collation follows a predictable process for hospital admissions. Many conclusions have been drawn from research performed using administrative databases. These conclusions can have significant and important implications for patients, providers, and society at large, to the extent that such data inform participants in the current health care policy debate. In an effort to better understand the significance of conclusions drawn from studies that rely on electronic administrative databases as their source of information, the present report addresses the process, strengths, weaknesses, and future plans for the use of administrative databases in spine research.


Asunto(s)
Bases de Datos Factuales , Sistemas de Información en Hospital , Enfermedades de la Columna Vertebral , Grupos Diagnósticos Relacionados , Investigación sobre Servicios de Salud , Humanos , Formulario de Reclamación de Seguro , Revisión de Utilización de Seguros
7.
Spine (Phila Pa 1976) ; 20(16): 1783-8, 1995 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-7502134

RESUMEN

STUDY DESIGN: A review of a cohort of 310 consecutive patients who underwent anterior spinal fusion was performed to evaluate the accuracy of hospital ICD-9-CM complication coding. OBJECTIVES: To better understand the clinical significance of conclusions suggested by studies that rely on electronic administrative databases for their data source. SUMMARY OF BACKGROUND DATA: Despite their availability, there have been no studies to date that have evaluated the accuracy of ICD-9-CM administrative databases as they relate to the actual clinical experience in spinal procedures. METHODS: A physician and a research technician independently reviewed the primary medical records for the occurrence of complications. This data was compared with the hospital-acquired ICD-9-CM coded complications. RESULTS: The physician reviewer identified 152 complications in 119 patients, with 32 different types of complications. The research abstracter identified 175 complications in 130 patients, with 34 different types of complications identified. Hospital ICD-9-CM coding identified 105 complications in 80 patients, including only 11 different ICD-9-CM codes. Overall, 27% of ICD-9-CM complication codes were listed as "unspecified or unclassified complications, reactions, or misadventures," and contained no meaningful clinical information. Cardiac and pulmonary complications were over-estimated and wound infections and genitourinary and gastrointestinal complications were underestimated by ICD-9-CM coding. CONCLUSIONS: Studies of complications of spinal procedures using data derived from hospital ICD-9-CM complication codes may be intrinsically flawed because the data available to researchers from these electronic databases may be inaccurate.


Asunto(s)
Sistemas de Información en Hospital/normas , Fusión Vertebral/efectos adversos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias , Estudios Retrospectivos
8.
Spine (Phila Pa 1976) ; 20(14): 1592-9, 1995 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-7570174

RESUMEN

STUDY DESIGN: A retrospective review of 1223 thoracic and lumbar anterior spinal fusions was performed from 1969 through 1992. OBJECTIVES: To document the incidence and specific types of perspective complications related to anterior spinal fusions. SUMMARY OF BACKGROUND DATA: Despite the increased use of anterior spinal surgery, there has been little documentation of the specific types and frequencies of the complications associated with its use. METHODS: All Minnesota Spine Center patients age 18 years or older who had anterior spinal fusions between the levels of T1 and S1 from August 1969 to June 1992 were reviewed for the occurrence of perioperative complications. Surgical approach and technique and associated comorbidity was recorded. RESULTS: The risk of a complication was increased for patients over age 60 years, for women, and for patients with multiple preexisting health problems. Serious complications, such as death (0.3%), paraplegia (0.2%), and deep wound infection (0.6%) were rare. The complication rate for complications that were directly attributed to the anterior spinal surgery was 11.5%. CONCLUSIONS: Anterior spinal fusion surgery is a safe procedure and can be used with confidence when the nature of a patient's spinal disorder dictates its use. Complications are often approach specific.


Asunto(s)
Vértebras Lumbares/cirugía , Fusión Vertebral/efectos adversos , Vértebras Torácicas/cirugía , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Disfunción Eréctil/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Paraplejía/etiología , Estudios Retrospectivos , Fusión Vertebral/mortalidad , Toracotomía/efectos adversos
9.
J Bone Joint Surg Am ; 77(4): 530-7, 1995 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-7713969

RESUMEN

We reviewed the clinical and roentgenographic findings, treatment, and results for seventeen patients (six male and eleven female) who had segmental spinal dysgenesis, a disorder frequently confused with, but distinct from, lumbar and lumbosacral agenesis. The average age at the time of presentation to the Minnesota Spine Center or the Gillette Children's Hospital was two and a half years (range, newborn to twenty-one years), and the average duration of follow-up was eight years (range, five months to twenty-two years). At the time of the diagnosis, eight patients had neurological deficits: seven had a neurogenic bladder and four had weakness of the lower extremities. An average of 2.6 procedures (range, one to five procedures) was needed to obtain a solid fusion. Decompression of the stenotic canal was performed in ten patients, and it was followed by an improvement in neurological function in two of them. A solid fusion of the spine, arrest of the progressive kyphosis, and stabilization of neurological function were obtained in all patients. We recommend early anterior and posterior arthrodesis in patients who have segmental spinal dysgenesis, as the progressive kyphosis that inevitably develops often results in neurological deficits.


Asunto(s)
Columna Vertebral/anomalías , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Fusión Vertebral , Columna Vertebral/cirugía , Vejiga Urinaria Neurogénica/etiología
10.
J Pediatr Orthop ; 13(4): 426-30, 1993.
Artículo en Inglés | MEDLINE | ID: mdl-8370774

RESUMEN

Fifty-six hips in 44 patients that underwent triple innominate osteotomy were reviewed. Average follow-up was 7 years (range 2-12 years). Patients were evaluated with regard to any postoperative pain and any improvement in function and as to whether they would recommend the procedure. Improvement in pain and function was considered good in 53 hips. Three hips were considered failures. Forty-two of 44 patients strongly recommended the procedure. Two patients would not recommend the procedure. In all, 94% of patients had improvement in both pain and function and recommended the operation.


Asunto(s)
Acetábulo/anomalías , Luxación Congénita de la Cadera/cirugía , Osteotomía/métodos , Acetábulo/diagnóstico por imagen , Acetábulo/cirugía , Adolescente , Adulto , Femenino , Estudios de Seguimiento , Luxación Congénita de la Cadera/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Osteoartritis de la Cadera/diagnóstico por imagen , Osteoartritis de la Cadera/cirugía , Dimensión del Dolor , Radiografía , Rango del Movimiento Articular/fisiología , Soporte de Peso/fisiología
11.
J Bone Joint Surg Am ; 75(5): 643-9, 1993 May.
Artículo en Inglés | MEDLINE | ID: mdl-8501078

RESUMEN

We reviewed the results for fifty-two hips in forty-two patients who had had a Pemberton pericapsular osteotomy between 1968 and 1984 as treatment for residual acetabular dysplasia of the hip. The average age of the patients at the time of the osteotomy was four years. The average duration of follow-up was ten years. At the time of the most recent follow-up, forty-two of the fifty-two hips had a rating of Severin class IA, an essentially normally developed hip. The results of the Pemberton osteotomy were unpredictable if there had been necrosis of the femoral head (without infection) preoperatively. We believe that the Pemberton osteotomy is a safe, effective procedure for the treatment of acetabular dysplasia in patients who have congenital dislocation of the hip.


Asunto(s)
Acetábulo/cirugía , Luxación Congénita de la Cadera/cirugía , Osteotomía/métodos , Niño , Preescolar , Femenino , Necrosis de la Cabeza Femoral/etiología , Estudios de Seguimiento , Marcha , Luxación Congénita de la Cadera/complicaciones , Luxación Congénita de la Cadera/diagnóstico por imagen , Articulación de la Cadera/fisiología , Humanos , Ilion/cirugía , Masculino , Radiografía , Rango del Movimiento Articular , Estudios Retrospectivos
12.
J Bone Joint Surg Am ; 72(10): 1519-22, 1990 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-2254360

RESUMEN

In fifteen patients, a subtle injury of the Lisfranc joint (tarsometatarsal articulation) was found. The lesion was defined as a diastasis of two to five millimeters between the bases of the first and second metatarsals, as seen on anteroposterior radiographs. There often was a long delay between injury and diagnosis. Eight patients were treated with a below-the-knee cast only, three had treatment with a cast and then tarsometatarsal arthrodesis, two had no initial treatment but later had arthrodesis, and two had open reduction and internal fixation. The duration of follow-up ranged from two to thirteen years after the diagnosis. There was no correlation between the severity of the diastasis and the patient's functional result. Marked disability and pain persisted in seven patients, and six of them had flattening of the longitudinal arch. Maintenance of the longitudinal arch usually was associated with a better functional outcome. When a patient has a subtle injury of the Lisfranc joint, weight-bearing lateral radiographs of both feet are needed to identify flattening of the longitudinal arch. Such radiographs should be made routinely in the evaluation of all injuries of the foot that may involve the Lisfranc joint.


Asunto(s)
Luxaciones Articulares/terapia , Huesos Metatarsianos/lesiones , Huesos Tarsianos/lesiones , Adulto , Anciano , Femenino , Humanos , Luxaciones Articulares/diagnóstico por imagen , Luxaciones Articulares/etiología , Masculino , Huesos Metatarsianos/diagnóstico por imagen , Persona de Mediana Edad , Radiografía , Huesos Tarsianos/diagnóstico por imagen
13.
Hand Clin ; 5(4): 561-9, 1989 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-2681236

RESUMEN

Human bite injuries, as innocuous as they may initially appear, may result in severe impairment. With a better understanding of the anatomy, microbiology, mechanism of injury, and clinical presentation, early diagnosis and the institution of appropriate therapy may minimize the morbidity commonly associated with human bite infections of the hand.


Asunto(s)
Mordeduras y Picaduras , Mordeduras Humanas , Traumatismos de la Mano , Mordeduras y Picaduras/microbiología , Mordeduras Humanas/complicaciones , Mordeduras Humanas/microbiología , Mordeduras Humanas/terapia , Traumatismos de la Mano/complicaciones , Traumatismos de la Mano/microbiología , Traumatismos de la Mano/terapia , Humanos
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