ABSTRACT
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, EXT1 and EXT2. In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% (n = 14) had a family history of MO. Clinical severity scores were class I in 34% (n:18), class II in 24.5% (n:13) and class III in 41.5% (n:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in EXT1 and 11 (38%) in EXT2. Patients with EXT1 variants showed a height z-score of 1.03 SD lower than those with EXT2 variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.
Subject(s)
Exostoses, Multiple Hereditary , Humans , Exostoses, Multiple Hereditary/genetics , Exostoses, Multiple Hereditary/diagnosis , Cross-Sectional Studies , N-Acetylglucosaminyltransferases/genetics , Mutation , Genetic TestingABSTRACT
Introducción: La enfermedad por coronavirus se expandió rápidamente, esto llevó a un aumento de la demanda de los servicios sanitarios, por lo cual fue necesario adaptarse de manera acorde. Nuestro objetivo es proporcionar una visión general del impacto en la atención y de nuestra experiencia, identificar aspectos positivos y aquellos por mejorar para futuras planificaciones. Materiales y métodos: Se registraron el número de consultas diarias, la edad, el sexo, la presencia de traumatismo, el lugar de la lesión, el motivo de consulta, el diagnóstico y el tratamiento. Se comparó la cantidad de atenciones con las flexibilizaciones y con igual período de 2019. Resultados: Se realizaron 120 consultas, 33 procedimientos quirúrgicos, 185 atenciones por guardia, 160 con traumatismo. El lugar más frecuente de traumatismo fue el domicilio (56,25%). El 30% eran fracturas de muñeca y el 28,8%, supracondíleas. Las consultas aumentaron con las flexibilizaciones del confinamiento. Conclusiones: Es fundamental adaptarse rápido teniendo en cuenta que las fracturas comunes seguirán ocurriendo, pese al confinamiento al igual que las infecciones osteoarticulares. No descuidar tampoco la enfermedad crónica impostergable. Nivel de Evidencia: III
Introduction: Coronavirus disease spreads rapidly, which leads to an increased demand for health services. Such services must be adapted accordingly. Our aim is to provide a general vision on the way these circumstances affect our practice, based on our experience and remarking the positive aspects as well as those which need to change in the future. Materials and methods: A record was kept of the daily number of consultations, age of the patient, gender, trauma history, place of injury, reason for consultation, diagnosis and treatment. These data were contrasted with the records for the different quarantine phases and with the records for the same period of 2019. Results: The number of consultations amounts to 120, the number of surgeries amounts to 33, and 185 emergency room consultations were carried out, 160 of them with trauma patients. The most frequent place of injury was the home (56.25%). 30% of the injuries were wrist fractures and 28.8% were supracondylar fractures. The number of patients increased over quarantine flexibilization. Conclusion: Fast adaptation is fundamental. Common fractures occur even during quar-antine, as well as infections. Professionals should avoid neglecting unpostponable attention to patients with a chronic condition. Level of Evidence: III
