Osteogénesis imperfecta: hallazgos clínicos y epidemiológicos en una serie de pacientes pediátricos / Osteogenesis imperfect: clinical and epidemiological findings in a series of pediatric patients

Resumen Introducción: La osteogénesis imperfecta (OI) es el trastorno óseo hereditario más común, con una incidencia de 1 en 10,000 a 25,000 nacimientos. Este trastorno está causado principalmente por mutaciones de los genes que codifican las cadenas del colágeno tipo I. En la mayoría de los casos, se presenta un patrón de herencia autosómico dominante. La OI se caracteriza principalmente por un aumento en la fragilidad ósea que da lugar a fracturas frecuentes que producen dolor, deformidad y discapacidad asociada con otras alteraciones. El objetivo del estudio fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de OI evaluados en la Universidad de Los Andes. Métodos: El presente trabajo consiste en el análisis de una serie de 37 casos pediátricos con diagnóstico de OI, de acuerdo a la clasificación clínica y radiológica de Sillence, evaluados en la consulta de la Unidad de Genética Médica de la Universidad de Los Andes, entre enero de 2006 y diciembre de 2018. Resultados: La OI tipo I fue la de presentación más frecuente, con 31 pacientes (83.78%). El fémur fue el hueso más afectado de manera conjunta. Las escleras azules fueron el hallazgo adicional más frecuente, en 32 pacientes (86.49%). Conclusiones: La OI representa el principal motivo de consulta por alteraciones en el sistema esquelético en la Unidad de Genética Médica de la Universidad de Los Andes. Ante la amplia forma clínica de presentación, la evaluación debe ser individual e interdisciplinaria. A través de un estudio más profundo se podrá brindar el oportuno asesoramiento genético familiar.

Abstract Background: Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. OI is characterized by an increase in bone fragility that leads to frequent fractures, which cause pain, deformity and disability associated with other alterations. The objective of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with OI evaluated at the University of Los Andes. Methods: A series of 37 pediatric cases with diagnosis of OI according to the clinical and radiological classification of sillence is analyzed, which were evaluated in the medical genetics unit of the University of Los Andes consultation between January 2006 and December 2018. Results: Type I was the most frequent OI type, with 31 patients (83.78%). Additionally, the femur was the most affected bone. Blue scleras were the most frequent additional finding in 32 patients (86.49%). Conclusions: OI represents the main reason for consultation of alterations in the skeletal system in the medical genetics unit of the University of Los Andes. Given the broad clinical presentation, the evaluation must be individual and interdisciplinary. Further study will provide timely family genetic counseling.

Shaft Fractures of Both Forearm Bones: The Outcomes of Surgical Treatment with Plating Only and Combined Plating and Intramedullary Nailing

BACKGROUND: Plate fixation is the most commonly used technique for the treatment of shaft fractures of both forearm bones (SFBFBs). However, all fractures are difficult to treat with plate fixation because of soft tissue injuries, fracture patterns, or the patient's condition. The purpose of this study is to compare the functional results of plate fixation only and combined plate and intramedullary (IM) nail fixation in SFBFBs. METHODS: Fifty-nine cases of SFBFBs that were surgically treated from June 2007 to July 2012 were retrospectively reviewed. In this study, 47 cases that were followed up for more than 12 months were included. All SFBFBs were divided into two groups according to the methods used for internal fixation: plate fixation only (group A) and combined plate and IM nail fixation (group B). The fixation methods were determined intraoperatively. Plate fixation was considered as the first option in all cases, but combined plate and IM nail fixation was selected as the second option if it was difficult to be fixed with plate only. Groups A and B comprised of 31 and 16 cases, respectively. The functional results were evaluated by the Grace and Eversmann rating system and the Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire. RESULTS: In groups A and B, a radiologic union was achieved in 30/31 and 14/16 cases and average union time was 11.1 and 17.8 weeks, respectively. According to the Grace and Eversmann rating system, group A had excellent results in 15 cases, good in 14, acceptable in one, and unacceptable in one. Group B had excellent results in three cases, good in nine, acceptable in two, and unacceptable in two. The average DASH score was 7.1 points (range, 0 to 19.2 points) in group A and 15.1 points (range, 0 to 29.6 points) in group B. Three cases of nonunion with unacceptable results achieved a bony union by additional procedures and the functional results of these cases improved to good or excellent. CONCLUSIONS: The functional results and the average union time were superior in group A than in group B. However, we think that combined fixation is a useful method for SFBFBs that cannot be treated with plate fixation only.

Redisplacement of Distal Radius Fracture after Initial Closed Reduction: Analysis of Prognostic Factors

BACKGROUND: To evaluate risk factors of redisplacement and remind surgeons of key factors regarding conservative treatment of distal radius fracture. METHODS: A total of 132 patients who received conservative treatment for distal radius fractures between March 2008 and February 2011 were included in this study. Radial inclination, radial length, volar tilting angle, ulnar variance, fragment translation, and presence of dorsal metaphyseal comminution were measured on the X-rays taken immediately after reduction, one week after injury during the first follow-up outpatient clinic visit, and after the gain of radiological union. Secondary displacement was defined as a loss of reduction during the follow-up period, and was divided into 'early' and 'late' categories. We analyzed the influence of initial displacement radiologic variables, dorsal cortex comminution, and patient age on the development of secondary displacement. RESULTS: Development of secondary displacement was significantly associated only with initial displacement radiologic variables (p < 0.001), development of the late secondary displacement was significantly associated with age (p = 0.005), and initial displacement radiologic variables were associated significantly with a serial increase in ulnar variance (p = 0.003). CONCLUSIONS: Greater displacement on the initial radiographs indicates a higher possibility of development for secondary displacement, and older patients had a higher probability of late secondary displacement development. Furthermore, dorsal comminutions did not affect secondary displacement directly.

Refractures of the Upper Extremity in Children

Purpose: To investigate the etiologic factors related to refractures of the upper extremity in children. Patients and Methods: Eighteen refractures were divided into three groups according to the location of the initial fractures. They were analyzed in terms of the type of refractures, fracture patterns, and the existence of an underlying deformity. Results: Of nine supracondylar fractures of the humerus, two involved refractures at the supracondylar region, and the other seven involved the lateral condyle. Underlying cubitus varus was present in six cases. Of three lateral condylar fractures of the humerus, one had a refracture at the supracondylar region, and two cases involved the lateral condyle. One had an underlying cubitus varus. All but one case in the humeral fractures group were late refractures, and were treated with surgery. Of six repeat forearm fractures, five were early type and occurred at the original site within nine weeks, four at the diaphysis of both bones of the forearm, and one at the diaphysis of the ulna. All cases in the forearm fractures group, save one, had volar angulation before the refracture, and were treated conservatively. Conclusion: In the humerus, the underlying cubitus varus was the most important predisposing factor for refractures and lateral condyle fractures were common. In the forearm, volar angulation of the diaphysis was related to refractures, and complete and circular consolidation of the primary fracture of the forearm was thought to be important in prevention.

Epidemiología y manejo de la fractura articular radio distal en el Hospital Militar Central, entre los años 2000 y 2003 / Epidemiology and managing of the fracture to articulate radius distal in the Military Central Hospital, between the year 2000 and 2003

El presente es un trabajo descriptivo, retrospectivo y transversal que evalúa el manejo de las fracturas articulares radio distales realizadas en el Hospital Militar Central entre los años 2000 y 2003. 586 pacientes ingresaron por Emergencia con un diagnóstico de fractura radio distal. Se seleccionaron 196 pacientes que presentaron un total de 203 fracturas articulares, de los cuales, luego de depurar las historias, placas radiográficas y TAC, 148 casos completaron los requisitos de la ficha de recolección de datos siendo ésta la población final de nuestro estudio. La mayor incidencia de fracturas, en gran parte, producidas por mecanismos de alta energía, fueron las fracturas tipo Melone II (54.1 por ciento), seguidas por las del tipo Melone IV (22.3 por ciento) y el restante 20 por ciento en distribución variada entre aquellas del tipo Melone III y Melone I. Del total de casos, un 77 por ciento de las lesiones mostraron fracturas asociadas de estiloides cubital. Se encontró que en el 54.1 por ciento de casos se aplicó la reducción cruenta más alambres de Kirschner como tratamiento para fracturas tipo Melone II (53.4 por ciento) y Melone I (0.7 por ciento); seguido en un 25.0 por ciento en los que se aplicó la reducción cruenta más osteosíntesis con placa y tornillo para fracturas tipo Melone III (14.2 por ciento) y tipo Melone IV (10.8 por ciento). Otras técnicas utilizadas, como la reducción cruenta más fijación externa en neutralización se utilizó en un 8.1 por ciento de casos, con un 6.1 por ciento para el tipo Melone IV y 2.0 por ciento para el tipo Melone III; la reducción incruenta percutánea con alambres de Kirschner en un 6.8 por ciento de casos, con un 6.1 por ciento para el tipo Melone I y un 0.7 por ciento para el Melone II; y la reducción cruenta más fijación externa en ligamentotaxis utilizada en un 6.1 por ciento para el tipo Melone IV (5.4 por ciento) y el tipo Melone III (0.7 por ciento). El injerto óseo se aplicó en 20...

The present is a retrospective transversal work of research that evaluates the treatment of intra-articular distal radius fractures carried out at the Central Military Hospital between the years 2000 y 2003. Out of a total of 586 patients that entered the hospital through the emergency entrance with a diagnosis of distal radio fractures, 196 were selected that presented a total of 203 articular fractures, of which after studying the medical histories and radiographic plates, 148 cases completed the requirements of the chart of recollection of data being this the final population of our study. The greatest incidence is on its majority by mecha- nisms of high energy was that of the fractures Melone Il type (54.1 %), followed by those of Melone IV type (22.3%) and the remaining 20% in a varied distribution between those of Melone III and Melone I types. Of the total of cases studied, 77% of the injuries showed ulnar styloid fractures. It was determined that in 54.1 % of cases, the open reduction + Kirschner wires was applied as a treatment of fractures Melone Il type (53.4%) and Melone I type (0.7%), followed in a 25.0% by those in which was applied the open reduction + plate/screw for fractures Melone III type (14,2%) and Melone IV type (10.8%). The other techniques used, like open reduction + external fixation (Neutralization), closed reduction + percutaneous Kirschner wires and open reduction + external fixation (Ligamentotaxis) were used in a 8.1 %, with a 6.1 % for Melone IV type and 2.0% for Melone type Ill; in a 6.8% with 6.1 % for the type Melone III type and 0.7% for the Melone Il type, and in 6.1% for Melone IV type (5.4%) and the Melone III type (0.7%) respectively. In relation to the use of bone grafting, it took place in a 20% of cases, being the TAC the auxiliary examin a 75.7% of cases. As a conclusion it is established that in general all the...

Distúrbios ortopédicos e traumatológicos: análise retrospectiva de 4.954 casos em Ambulatório de Ortopedia / Orthopedic and traumatologic diseases: retrospective study of 4954 cases in Orthopedic Ambulatory

Os autores realizaram um estudo retrospectivo, no período de janeiro a dezembro de 1997, com o intuito de estabelecer os distúrbios ortopédicos de maior prevalência, segundo sexo e faixa etária. No total, foram analisados 4.954 casos, sendo os dados obtidos junto ao banco de dados de sua instituição. Fratura do rádio e do cúbito foi o distúrbio mais prevalente (8,8 por cento), seguido de entorses e distensões (6,5 por cento). O sexo mais atingido foi o masculino (60,4 por cento) e a faixa etária mais freqüente foi entre 10 e 19 anos (18,2 por cento). Os autores discutem os resultados e comentam sobre o impacto socioeconômico dos distúrbios ortopédicos e traumatológicos

Consideraciones en el tratamiento quirúrgico en fracturas de cúpula radial / Considerations in the surgery treatment in fracture of radial head

Se revisaron las histortias de 17 pacientes del Servicio de Traumatología del Hospital Universitario de Caracas, durante el período de 1986-1989, con fractura de cúpula radial. A 10 de ellos se les practicó cupulectomía simple. Se analizan los resultados de tres años de su evolución post operatoria. Se concluye que la cupulectomía radial no es una intervención inocua