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: Breast cancer is the most lethal malignancy for women worldwide. Developed countries, such as Portugal, Spain, and the United States, have declining mortality rates due to breast cancer; however, in developing countries, the epidemiological reports are scarce. In this context, the aims of this study are to describe and discuss the female breast cancer profile of hospitalization and mortality according to age and geographic region in Brazil from 2008 to 2019.
METHODS: Data were obtained from the National Health System Department of Informatics (DATASUS), maintained by the Brazilian Ministry of Health, which includes the registers of hospitalization and mortality by malignant neoplasm of breast (code C50, ICD-10). Proportional rates of hospitalization and deaths were estimated per 100,000 inhabitants according to respective subjects\' age, region, and year of the occurrence.
RESULTS: From 2008 to 2019, 643,822 hospital admissions due to malignant neoplasm of breast were reported in Brazil, of which the South and Southeast regions were the most prevalent. Higher hospitalization rates were seen in subjects aged 50-79-years-old. Regarding mortality, 53,480 deaths by breast cancer were reported; similarly to hospitalization, the Southeast and South were the most affected regions. Mortality rates have increased over time in different magnitudes depending on subjects\' age.
CONCLUSIONS: We have shown an increase in morbidity and mortality over time, which is dependent on patients\' age and region. The results presented here may contribute to the ongoing discussion about the role and future perspectives of the Brazilian health care system, especially regarding to the strategies for the prevention, control, and treatment of breast cancer.

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.

Infant mortality is characterized by the death of young children under the age of one, and it is an issue affecting millions of children in the world. The objective of this article is to employ concepts of knowledge discovery in databases, specifically of machine learning in the data mining phase, to characterize infant mortality in two states of Brazil: Santa Catarina, with the lowest infant mortality rate of the country\'s states, and Amapá, with the highest. The classifiers C4.5, JRip, Random Forest, SVM, and Multilayer Perceptron were used, and a brief comparison of the results obtained by the classifiers in both states is made. In addition, the dataset preprocessing is detailed, which includes attribute selection and class balancing. The results show that the features APGAR5, WEIGHT, and CONGENITAL ANOMALY stood out the most from the rules generated by the tree-based classifiers.

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.

BACKGROUND: Age-related macular degeneration (AMD) is a disease that causes damage in the macular region of the retina, leading to irreversible blindness. This study aims to understand the profile and care of patients with AMD and its cost at the Brazilian public health system to identify AMD-care needs.
METHODS: This is a retrospective observational study of AMD with real-world data from the Brazilian public healthcare system, using DATASUS claim databases. Patients with AMD were selected from 01/Jan/2014 to 31/Jan/2020; had at least one claim of ICD10 code H35.3 (Degeneration of macula and posterior pole), and were submitted to one of two procedures exclusively available for AMD patients - optical coherence tomography (OCT) and medical treatment of retinal disease (antiangiogenic); aged ≥18 years at first ICD10 claim, and presenting at least 1 year of follow-up in the database. We described patients\' characteristics, healthcare resource utilization and cost, and the antiangiogenic intravitreal treatment received by AMD patients, including the number of doses and interval time between them.
RESULTS: Patients searching for AMD treatment since 2014 were mostly females (59%), white (61%), and a mean age of 72 years. They were mainly located in the Southeast (87%), and few patients were found in the North (1%) and Central-West (1.5%) regions, probably reflecting where the Brazilian guideline to treat AMD (Protocolo Clínico e Diretrizes Terapêuticas - PCDT) was incorporated as routine care for AMD. The average antiangiogenic dose of 2.5 antiangiogenic therapies within a year was below the expected. Most injections had an interval time of 20 to 40 days between doses, although some patients were treated more than 100 days. Another setback is that patients traveled longer distances for OCT and antiangiogenic treatment than overall AMD-healthcare, between 10 and 100 km.
CONCLUSIONS: AMD patients seem to be undertreated, as they receive a mean of 2.5 doses of antiangiogenic treatment within a year. Inequalities among regions are evident, as the Southeast and South regions comprise almost all patients receiving the treatment from the public health system, probably reflecting the region with more access to AMD care according to PCDT recommendations.