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.
CONCLUSIONS: 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.

Objective  The present study intends to describe the profile of hospitalization and ambulatory rehabilitation of patients ≥ 50 years old due to hip fracture in the Brazilian Public Health System (SUS, in the Portuguese acronym). Methods  This is a cross-sectional study of patients hospitalized due to hip fracture in the SUS between 2008 and 2017. Data included 441,787 hip fracture-related hospitalizations from the hospitalization database of the department of informatics of the Brazilian Unified Health System (SIH/DATASUS, in the Portuguese acronym), and data of patients who underwent rehabilitation from the ambulatory database of the department of informatics of the Brazilian Unified Health System (SIA/DATASUS, in the Portuguese acronym.). Results  Most of hip fracture-related hospitalizations (83.5%) happen to people ≥ 50 years old, with an average annual growth of 5.6% in hip fracture-related hospitalizations. The costs for the government have been growing in the same proportion and reached almost BRL 130 million in 2017, although with a 13.6% decrease in average cost per hospitalization. Besides the financial impact, hip fractures result in an in-hospital mortality rate around 5.0% in patients aged ≥ 50 years old. In addition, the percentage of patients that have undergone hip fracture-related rehabilitation increased from 2008 (14.0%) to 2012 (40.0%), and remained stable after that. Conclusions  The progressive increase in the incidence of hip fractures shows the financial and social impact, and the need for immediate actions to prevent this rising trend. Hip fractures are a risk for secondary fractures, the prevention is crucial, and the orthopedist plays a central role in this process.

BACKGROUND: Generalized pustular psoriasis (GPP) is a rare and severe phenotype of psoriasis characterized by sudden outbreak of widespread coalescent sterile pustules associated with a spectrum of systemic symptoms.
OBJECTIVE: We aimed to describe the epidemiology and treatment of GPP in Brazil from the public health care system perspective.
METHODS: This was a retrospective public claims database study, using outpatient and inpatient databases, with information from January 2018 to August 2020, based on records of health resource utilization by patients with GPP. Outpatient treatment regimens and fatal inpatient outcomes were described.
RESULTS: In total, 1458 outpatients of all ages were identified, of whom 53% were women. We estimated the GPP prevalence in Brazil to be between 0.7 and 0.9 per 100,000. Acitretin was the most commonly dispensed drug. Of all the outpatients, 769 outpatients could be tracked in the inpatient database, and 151 had hospital admissions during the study period. Of them, 5.3% had a fatal outcome during hospitalization. A primary skin condition or an infection was the most frequent hospitalization cause.
CONCLUSIONS: The International Classification of Diseases codes for GPP and psoriasis have not been previously validated in this context.
CONCLUSIONS: GPP is a rare disease in Brazil and affects individuals of all ages and both sexes. Hospitalizations and disease-related deaths highlight the need for its prompt diagnosis, close medical follow-up, and effective treatment.