RESUMEN
Malunion is a common complication of distal radius fractures, especially those treated conservatively. In clinical studies, a significant correlation between anatomic reduction and wrist function has been shown. Corrective osteotomy is the preferred treatment for symptomatic cases, notwithstanding the technical challenges. The use of computer simulation improves pre-operative understanding of the three-dimensional deformity. Patient-specific surgical guides, based on precise pre-operative planning, lead to superior perioperative accuracy and reproducibility. The pre-operative planning and surgical technique of distal radius corrective surgery using three-dimensional computer technology are described in detail. The preliminary results demonstrate the excellent clinical and radiographic outcome of this technique.
Asunto(s)
Fracturas Mal Unidas/cirugía , Osteotomía/métodos , Fracturas del Radio/cirugía , Adolescente , Adulto , Anciano , Simulación por Computador , Femenino , Fijación de Fractura/métodos , Fracturas Mal Unidas/fisiopatología , Fuerza de la Mano/fisiología , Humanos , Imagenología Tridimensional , Masculino , Persona de Mediana Edad , Planificación de Atención al Paciente , Cuidados Preoperatorios/métodos , Estudios Prospectivos , Fracturas del Radio/fisiopatología , Rango del Movimiento Articular/fisiología , Resultado del Tratamiento , Adulto JovenRESUMEN
The precise diagnosis of an immunodeficiency is sometimes difficult to assess, especially due to the large spectrum of phenotypic variation reported among patients. Common variable immunodeficiency disorders (CVID) do not have, for a large part, an identified genetic cause. The identification of a causal genetic mutation is important to confirm, or in some cases correct, the diagnosis. We screened >150 male patients with hypogammaglobulinemia for mutations in three genes involved in pediatric X-linked primary immunoglobulin deficiency: CD40LG, SH2D1A and BTK. The SH2D1A screening allowed to reclassify two individuals with an initial CVID presentation as XLP after mutations identification. All these mutations were associated with a lack of protein expression. In addition, 4 patients with a primary diagnosis of CVID and one with a primary IgG subclass deficiency were requalified as XLA after identifying BTK mutations. Interestingly, two out of these 5 patients carried a damaging coding BTK mutation associated with a lower, but detectable, BTK expression in monocytes, suggesting that a dysfunctional protein explains the disease phenotype in these patients. In conclusion, our results advocate to include SH2D1A and BTK in newly developed targeted NGS genetic testing, to contribute to providing the most appropriate medical treatment and genetic counselling.
Asunto(s)
Agammaglobulinemia/diagnóstico , Monocitos/fisiología , Proteínas Tirosina Quinasas/genética , Proteínas Recombinantes de Fusión/genética , Proteína Asociada a la Molécula de Señalización de la Activación Linfocitaria/genética , Agammaglobulinemia Tirosina Quinasa , Biomarcadores/metabolismo , Preescolar , Análisis Mutacional de ADN , Asesoramiento Genético , Pruebas Genéticas , Humanos , Lactante , Masculino , Mutación/genética , FenotipoRESUMEN
PURPOSE: Three-dimensional planning based on computed tomography images of the malunited and the mirrored contralateral forearm allows preoperative simulations of corrective osteotomies, the fabrication of patient-specific osteotomy guides, and custom-made 3-dimensional printed titanium plates. This study aims to assess the precision and clinical outcome of this technique. METHODS: This was a prospective pilot study with 5 consecutive patients. The mean age at initial injury was 11 years (range, 4-16 years), and the mean interval from the time of injury to the time of corrective surgery was 32 months (range, 7-107 months). Patient-specific osteotomy guides and custom-made plates were used for multiplanar corrective osteotomies of both forearm bones at the distal level in 1 patient and at the middle-third level in 4 patients. Patients were assessed before and after surgery after a mean follow-up of 42 months (range, 29-51 months). RESULTS: The mean planned angular corrections of the ulna and radius before surgery were 9.9° and 10.0°, respectively. The mean postoperative corrections obtained were 10.1° and 10.8° with corresponding mean errors in correction of 1.8° (range, 0.3°-5.2°) for the ulna and 1.4° (range, 0.2°-3.3°) for the radius. Forearm supination improved significantly from 47° (range, 25°-75°) before surgery to 89° (range, 85°-90°) at final review. Forearm pronation improved from 68° (range, 45°-84°) to 87° (range, 82°-90°). In addition, there was a statistically significant improvement in pain and grip strength. CONCLUSIONS: This study demonstrates that 3-dimensional planned patient-specific guides and implants allow the surgeon to perform precise corrective osteotomies of complex multiplanar forearm deformities with satisfactory preliminary results. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.