A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System.

BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil. We identified and described patients with suspected XLMTM using administrative claims data from the Brazilian public healthcare system. METHODS: Data from 2015 to 2019 were extracted from the DATASUS database. As no XLMTM-specific ICD-10 code was available, a stepwise algorithm was applied to identify patients with suspected XLMTM by selecting male patients with a congenital myopathies code (G71.2), aged < 18 years at index date (first claim of G71.2), with an associated diagnostic procedure (muscle biopsy/genetic test) and without spinal muscular atrophy or Duchenne muscular dystrophy. We attempted to identify patients with suspected severe XLMTM based on use of both respiratory and feeding support, which are nearly universal in the care of XLMTM patients. Analyses were performed for the overall cohort and stratified by age at index date < 5 years old and ≥ 5 years old. RESULTS: Of 173 patients with suspected XLMTM identified, 39% were < 5 years old at index date. Nearly all (N = 166) patients (96%) were diagnosed by muscle biopsy (91% of patients < 5 years old and 99% of patients ≥ 5 years old), six (3.5%) were diagnosed by clinical evaluation (8% of patients < 5 years old and 1% of patients ≥ 5 years old), and one was diagnosed by a genetic test. Most patients lived in Brasilia (n = 55), São Paulo (n = 33) and Minas Gerais (n = 27). More than 85% of patients < 5 years old and approximately 75% of patients ≥ 5 years old had physiotherapy at the index date. In both age groups, nearly 50% of patients required hospitalization at some point and 25% required mobility support. Respiratory and feeding support were required for 3% and 12% of patients, respectively, suggesting that between 5 and 21 patients may have had severe XLMTM. CONCLUSION: In this real-world study, genetic testing for XLMTM appears to be underutilized in Brazil and may contribute to underdiagnosis of the disease. Access to diagnosis and care is limited outside of specific regions with specialized clinics and hospitals. Substantial use of healthcare resources included hospitalization, physiotherapy, mobility support, and, to a lesser extent, feeding support and respiratory support.

Evaluation of injury cases for dental intervention described in legal dentistry reports / Evaluación de casos con lesiones de intervención dental descrita en los informes legales odontológicos

The dentist responsibility on dental interventions during the exercise of his/her activity guides in civil, ethical, administrative and criminal obligations. When a harmful result occurs on a patient whether by recklessness, malpractice and / or negligence, the examination of the injury can be ordered by a judicial authority and held at the expert level, thus making the dentist subject to the Brazilian Penal Code and its penalties. The dentist might be forced to repair the damage and compensate according to the caused consequence, based on the Civil Code, or both and may suffer a double action. With the increase of Dentistry-related processes, the focus of this research is to give greater visibility to the subject, emphasizing the ethical and legal aspects involved in professional practice. To meet this end, we carried out a survey on reports of maxillofacial injuries from the "Instituto Médico Legal Nina Rodrigues", Salvador-BA-Brazil, from January 2007 to December 2013, analyzing the data on the procedures performed, the reason for the expert's report and its result, the professional responsibility and the conclusion given by the expert. It was noticed that from the total of personal injury examinations made by dentists, most of the complaints are in the area of surgery (42.9%), followed by Endodontics and Orthodontics with 14.3% each, and in 96 % of cases involved one or more elements of professional liability and 47.4% were classified by experts as minor injuries. It is concluded that the increase in injuries lawsuits generated in service is due to the fact that the dentist does not take responsibility to protect himself/herself from poor results and to perform procedures without having the proper skill. It is therefore suggested, professional training for the acquisition of technical and scientific knowledge in their area, enabling them to act with utmost in care and professionalism.

La responsabilidad del dentista acerca de las intervenciones dentales realizadas en el ejercicio de sus actividades tienen responsabilidades civil, ética, administrativa y penal. Cuando se prueba que un resultado es perjudicial para el paciente, por imprudencia, mal praxis o negligencia, el examen de la lesión puede ser ordenado por una autoridad judicial y se analiza por peritos, haciendo que el dentista este sujeto a las sanciones previstas en el Código Penal brasileño, siendo forzado a reparar el daño e indemnizar de acuerdo a la consecuencia causada, con base en el Código Civil, o ambos, pudiendo sufrir una doble acción. Debido al incremento de los procesos legales relacionados con la odontología, el objetivo de esta investigación es dar mayor visibilidad al tema, haciendo hincapié en los aspectos éticos y legales relacionados con la práctica profesional. Para ello, llevamos a cabo un estudio de los informes odontológicos legales de lesiones maxilofaciales en el Instituto de Medicina Legal Nina Rodrigues, Salvador-BA-Brasil, durante los meses de enero 2007 a diciembre 2013. Se analizó la información de los procedimientos realizados, la razón para el informe del perito y su resultados, la responsabilidad profesional y la conclusión propuesta por el peritos. Se encontró que del total de exámenes por injurias a pacientes, la mayoria correspondió al área de cirugía (42,9%), seguido por endodoncia y ortodoncia con 14,3% en cada uno; en el 96% de los casos se involucraron uno o más elementos de responsabilidad profesional, siendo el 47,4% clasificados por los peritos como lesiones menores. Se concluye que el aumento de los litigios por lesiones generadas por la atención odontológica se deben a que el dentista no toma responsabilidad sobre los malos resultados y realiza procedimientos sin tener la habilidad adecuada. Se sugiere realizar una adecuada formación profesional para la adquirir los conocimientos técnicos y científicos de cada área (especialización), lo que permitiria actuar con el máximo cuidado y profesionalismo.