Reference Center In Brazil Research Articles

Impact of second histopathological review of melanocytic skin lesions at a melanoma reference center in Brazil.

After the biopsy of a suspicious melanocytic lesion, patients depend on the pathologist's precision of specimen evaluation. We assessed the agreement between histopathological reports made by general pathologists and reviewed by a dermatopathologist to evaluate the impact on the patient's management. In 79 cases analyzed, underdiagnosis was observed in 21.6% and overdiagnosis in 17.7%, resulting in changes in the patients' conduct. The assessment of the Clark level, ulceration and histological type showed mild agreement (P<0.001); the Breslow thickness, surgical margin, and staging showed moderate agreement (P<0.001). A dermatopathologist's review should be incorporated into the routine of reference services for pigmented lesions.

Profile of Chikungunya Patients with Ophthalmological Manifestations in a Reference Center in Brazil.

To evaluate the profile of ophthalmological manifestations of patients with chikungunya accompanied by the ophthalmology service at a reference center in the northeast region of Brazil. This retrospective study included the medical records of patients of the Leiria de Andrade Foundation (FLA) who presented ocular manifestations and had a history of prior Chikungunya virus (CHIKV) involvement. The data were collected between August 2018 and March 2019. A total of 230 patients participated in this study, 71.7% were female, and 46.1% were between 61 and 80 years old. Regarding previous pathological history, 71 patients (30%) had comorbidities, and 86 (37%) reported previous ophthalmologic pathology. The most common eye complaint was low visual acuity (LVA). Of the participants, 137 (59.6%) presented ophthalmologic manifestations after CHIKV infection, with cataracts being the most evident. Regarding medication, 85 participants used corticosteroids. The participants were predominantly female, aged between 61 and 80 years, and had previous comorbidities. LVA was the most reported complaint by patients, and cataracts were the main ophthalmological pathology presented.

Profile of patients with essential blepharospasm and hemifacial spasm in the two largest ophthalmology reference centers in Brazil.

Information is scarce regarding the comprehensive profile of patients with essential blepharospasm and hemifacial spasm in Brazil. The present study aimed to assess the clinical features of patients with these conditions, followed up in two reference centers in Brazil. The study included patients with essential blepharospasm and hemifacial spasm, followed up at the Departments of Ophthalmology at Universidade Federal de São Paulo and Universidade de São Paulo. Apart from demographic and clinical features, past stressful events related to the first symptoms (triggering event), aggravating factors, sensory tricks, and other ameliorating factors for the eyelid spasms were assessed. A total of 102 patients were included in this study. Most patients were female (67.7%). Essential blepharospasm was the most frequent movement disorder [51/102 patients (50%)], followed by hemifacial spasm (45%) and Meige's syndrome (5%). In 63.5% of the patients, the onset of the disorder was associated with a past stressful event. Ameliorating factors were reported by 76.5% of patients; 47% of patients reported sensory tricks. In addition, 87% of the patients reported the presence of an aggravating factor for the spasms; stress (51%) was the most frequent. Our study provides information regarding the clinical features of patients treated in the two largest ophthalmology reference centers in Brazil.

Real-world treatment outcomes in HR+ HER2- metastatic breast cancer patients treated with CDK4/6 inhibitors: Results from a reference center in Brazil

BackgroundCyclin-dependent kinase 4/6 inhibitors (CDK4/6i) have been recently developed and introduced into clinical practice. MethodsWe retrospectively analyzed data from patients with confirmed HR+/HER2 metastatic breast cancer treated with hormonal therapy in combination with ribociclib (R), palbociclib (P), or abemaciclib (A). Outcomes: median progression-free survival (mPFS), time to treatment discontinuation (mTTD), and objective response rate (ORR). ResultsBetween January 2016 - June 2021, 142 patients were treated with an CDK4/6i (79 P, 42 R, 21 A). The median age was 59 years and 67.6% had recurrent disease. Roughly 35.2%, 36.6%, 28.2% of the patients had 1, 2 or 3+ metastatic sites, respectively, and 55.6% of the patients received CDK4/6i as a first-line treatment. The mPFS was 28m(R) vs. 14m(P) vs. 6m(A) (P = 0.002), with a higher proportion of patients receiving R in the first-line setting. However, no difference was seen when the analysis was restricted to the first-line scenario (P = 0.193). Sixty-four patients required one dose reduction, and 19 patients required two. ORR was 76.2% (R) vs 62% (P) vs 42.9% (A). More patients achieved a complete response with R and P, with no difference in the incidence of partial response and stable disease. Adverse events occurred in 94.4% of the population, with the most common grade 3–4 AE being neutropenia (59.1%). ConclusionsOur results confirm the efficacy and tolerability of CDK4/6i in routine clinical practice. This is the first real-world data describing and comparing the efficacy and toxicity of CDK4/6i in the Brazilian population.

DIABETES MELLITUS TIPO 1 EM CRIANÇAS E ADOLESCENTES EM UM CENTRO DE REFERÊNCIA PÚBLICO NO BRASIL: FATORES ENVOLVIDOS NO TRATAMENTO DE DIABETES E SEUS EFEITOS SOBRE A HEMOGLOBINA GLICADA

Objective: Evaluate the factors involved in type 1 Diabetes Mellitus treatment in children and adolescents. Method: The cross-sectional study occurred between Sept/2020-July/2021 and involved 56 patients with previous diagnosis of type 1 diabetes, aged 0-18 years, treated at a public outpatient clinic in Sorocaba. We applied a questionnaire regarding their treatment and got HbA1c, heigh and weight values from their medical records. The analysis of associations/differences among the data and HbA1c was made through Students t-test, ANOVA and linear regression, and we calculated standard deviation, confidence interval (95%) and significance value (p&lt;0.05=significant). Results: The study population (n=56) had a mean age of 9.67 years, 62.49% exercised less than 30min/day and 39.29% were overweight/obese. In patients with HbA1c values registered in their records (n=49), the mean HbA1c was 81mmol/mol (9.57%). The analogous insulin regimen had a mean HbA1c=77mmol/mol (9.21%), with pvalue=0.0175, while other regimens had mean HbA1c&gt;86mmol/mol (10%). The follow-up to a food plan reduced the HbA1c from 107mmol/mol (11.9%) to 67mmol/mol (8.33%), with p-value=0.0027. Patients aged 2-10 years had HbA1c=69mmol/mol (8.45%), compared to 98mmol/mol (11.19%) in those aged 11- 18 years (p-value=0.0004). Conclusion: The findings highlight the poor glycemic control in children/adolescents with type 1 diabetes and a high prevalence of sedentarism and overweight/obesity. There was an inverse association between the HbA1c and the use of analogous insulins, follow-up to a food plan and age 2-10 years. These factors should be considered during the treatment plan for type 1 diabetes.

Sociodemographic and Clinical Characteristics and the Impact of Hydroxyurea on Laboratory Profile and Healthcare Resource Utilization of Adult Patients with Sickle Cell Disease: An Observational and Retrospective Study of 5 Years of Follow-Up in a Reference Center in Brazil

Sickle cell disease (SCD) is a severe inherited and multisystem blood disorder characterized by hemolytic anemia, vasoocclusive crises (VOCs), progressive multiorgan damage, and increased mortality. SCD is the most common inherited disorder worldwide, with well over 300,000 children born with SCD yearly, 75% of whom are born in Africa. Based on the Brazilian neonatal screening program, the annual average of new cases of children diagnosed with SCD was 1,087, with an incidence of 3.78 per 10,000 live births and an estimated number of 60,000 to 100,000 individuals living with SCD in Brazil. Our objectives were to describe the sociodemographic and genotype characteristics and clinical complications of patients with SCD and compare the laboratory profile and the impact of healthcare resource utilization between patients with and without hydroxyurea during five years of observation. Objectives: To describe the sociodemographic and clinical complications, compare the laboratory profile and the impact of healthcare resources utilization between patients with and without hydroxyurea of SCD patients during five years of observation. Method: This was a retrospective cross-sectional descriptive study conducted at one Brazilian reference center on SCD - Santa Casa de Sao Paulo, in Sao Paulo (Southeast region of Brazil) during a 5-year observation period (2016-2020).

External validation of the Glasgow coma scale-pupils in low- to middle-income country patients with traumatic brain injury: Could "motor score-pupil" have higher prognostic value?

The objective of this study is to validate the admission Glasgow coma scale (GCS) associated with pupil response (GCS-P) to predict traumatic brain injury (TBI) patient's outcomes in a low- to middle-income country and to compare its performance with that of a simplified model combining the better motor response of the GCS and the pupilar response (MS-P). This is a prospective cohort of patients with TBI in a tertiary trauma reference center in Brazil. Predictive values of the GCS, GCS-P, and MS-P were evaluated and compared for 14 day and in-hospital mortality outcomes and length of hospital stay (LHS). The study enrolled 447 patients. MS-P demonstrated better discriminative ability than GCS to predict mortality (AUC 0.736 × 0.658; P < 0.001) and higher AUC than GCS-P (0.736 × 0.704, respectively; P = 0.073). For hospital mortality, MS-P demonstrated better discrimination than GCS (AUC, 0.750 × 0.682; P < 0.001) and higher AUC than GCS-P (0.750 × 0.714; P = 0.027). Both scores were good predictors of LHS (r2 = 0.084 [GCS-P] × 0.079 [GCS] × 0.072 [MS-P]). The predictive value of the GCS, GCS-P, and MS-P scales was demonstrated, thus contributing to its external validation in low- to middle-income country.

Evaluation of Clinical Course of Gamma (P.1) Variant of Concern versus Lineages in Hospitalized Patients with COVID-19 in a Reference Center in Brazil.

ABSTRACT.The SARS-CoV-2 variant of concern (VOC) gamma (P.1) has increased transmissibility and resulted in elevated hospitalization and mortality rates in Brazil. We investigated the clinical course of COVID-19 caused by gamma and non-VOCs at a reference hospital in Brazil in a retrospective cohort study with nonelderly hospitalized patients from two periods, before and after the emergence of gamma. Cohort 1 included patients from both periods whose samples would be eligible for whole-genome sequencing (WGS). Cohort 2 was composed of randomly selected patients from Cohort 1 whose samples were submitted to WGS. A total of 433 patients composed Cohort 1: 259 from the first and 174 from the second period. Baseline characteristics were similar, except for a higher incidence of severe distress respiratory syndrome at admission in patients from the second period. Patients from the second period had significantly higher incidence rates of advanced respiratory support (adjusted hazard ratio [aHR]: 2.04; 95% confidence interval [CI], 1.60–2.59), invasive ventilatory support (aHR: 2.72; 95% CI: 2.05–3.62), and 28-day mortality from the onset of symptoms (aHR: 2.62; 95% CI: 1.46–4.72). A total of 86 (43 gamma and 43 non-gamma) patients composed Cohort 2. Patients with confirmed gamma VOC infections had higher advanced ventilatory support and mortality rates than non–gamma-infected patients. Our study suggests that non-elderly patients hospitalized for COVID-19 in the second period (used as a proxy of gamma infection) had a more severe clinical course. This might have contributed to higher hospitalization and death rates observed in the second wave in Brazil.

Serum Ferritin and NAFLD in Patients Undergoing Bariatric Surgery.

Non-alcoholic fatty liver disease (NAFLD) has become a challenge in public health, as the prevalence of obesity and overweight has been increasing. It has been observed that serum ferritin (SF) levels are commonly elevated in NAFLD patients. To assess the relationship between SF levels and NAFLD, exploring the role of SF as a non-invasive marker of NAFLD. Clinical, anthropometric, laboratory, and histological data of patients with obesity who underwent bariatric surgery in a reference center in Brazil were retrospectively evaluated. Data were collected in the preoperative period up to the first year postoperatively. A total of 431 patients were analyzed. The prevalence of hyperferritinemia was 18% in the preoperative period and 14% 1 year after the surgery. After multiple regression analysis, elevated SF was not an independent predictor of steatosis, non-alcoholic steatohepatitis (NASH), or liver fibrosis. Increased SF levels are common in patients with NAFLD; however, SF was not considered an independent predictor of steatosis, NASH, or fibrosis.

Impact of histopathological revision and molecular pathology in the diagnosis of sarcomas in a reference center in Brazil.

e23533 Background: The accurate classification of sarcomas remains a major challenge due to the diversity and rarity of this group of mesenchymal tumors. In addition to standard microscopy and immunohistochemical techniques, molecular analyses are often required to achieve an appropriate diagnosis. The limited availability of specialized pathology centers, multidisciplinary teams, and diagnostic tools may directly affect the initial evaluation and subsequent treatment plan. Therefore, we sought to characterize the impact of diagnostic review by reference pathologists and molecular assessments in a reference center in Brazil. Methods: We conducted a retrospective analysis of sarcoma samples initially analyzed at outside laboratories and subsequently revised in a reference center by two dedicated pathologists between 01/2014-12/2020. After extracting demographic and tumor characteristics, we assessed the presence of complete discordance (benign versus malignant, sarcoma versus other malignancy), partial concordance (similar diagnosis of connective tumor, but different grade/histological subtype/differentiation), and complete concordance. The concordance for histology or grade, as well as the role of molecular assessments supporting the diagnosis, were also independently determined. Statistical analyses were conducted through the kappa coefficient of agreement, adherence by χ2 test, χ2 test by Person, and Fisher's exact test. Results: A total of 197 cases were included, with a predominance of male patients (57.9%), localized tumors (86.8%), and the median age at diagnosis of 46.3 years. The most common primary sites were lower extremities (34.6%) and retroperitoneum (11.3%). Following the revision, the most frequent histologies were undifferentiated pleomorphic sarcoma (20.3%), liposarcomas (13.1%), and leiomyosarcoma (6.6%). Complete discordance was present in 13.2%, partial discordance in 45.2%, and complete concordance in 41.6% of reviews (p &lt; 0.001). We found a concordance for histology or grade of 53.5% (p &lt; 0.001) and 51.8% (p &lt; 0.001) respectively. Molecular assessments, comprising NGS panels (79.5%) and FISH (20.5%), were performed in 44 (22.3%) cases, with findings of diagnostic relevance in 31.8% of those. Conclusions: In almost 60% of the cases, the initial diagnosis was at least partially modified when revised in a reference center, with a relevant impact of molecular assessments. These findings highlight the importance of managing sarcoma patients in reference centers and justify the assembly of referral networks in countries with limited healthcare resources.

Investigation of Mortality of Hereditary Angioedema in a Reference Center in Brazil

Hereditary angioedema (HAE) is known for mortality when it is not treated properly. Many advances have occurred over the past decades that affected patients' lives. However, not all patient populations have access to the same diagnosis and treatment resources. To evaluate mortality from HAE in a large cohort in a reference center in Brazil. Furthermore, the research intended to describe patients' life span, the asphyxia evolution, and factors related to the fatal outcome. A cohort of 433 patients from 46 families was evaluated in this prospective and retrospective study. Families were organized in clusters and were given a verbal autopsy to arrange data collection for the deaths and analyze symptoms during life. Causes of death were classified as deaths from laryngeal edema (LE) or other causes. Of 433 patients evaluated, 254 were not given the diagnosis of HAE. A total of 75 fatal events were evaluated. Only 10 of 75 patients were given the diagnosis of HAE before death, and the HAE diagnosis was made after death in 65 of 75 patients using verbal autopsy. The final cause of death after the investigation was asphyxiation owing to LE in 39 of 75 (52%) and deaths owing to other causes in 36 of 75 (48%). Ten deaths had occurred in the past decade. Time from onset of symptoms to seeking medical assistance was a median of 4 hours, and the time to death was a median of 8 hours. Three patients received fresh-frozen plasma and none received medications specific to HAE attacks. Throat pain or discomfort was the most common symptom, experienced by 71.8% of patients. The most common mistaken diagnosis at the original death certificate was allergy or anaphylaxis. The life span of patients who died of LE was reduced by 20 years compared with those who died of other causes. Hereditary angioedema remains a threat to life in the studied population. The large number of patients who do not receive a diagnosis makes the situation even more severe and is responsible for most deaths. Death analyses add knowledge to an understanding of the diseases and their impact on patients' lives, improving the targeting of public health efforts.

MO304: Severe Sars-COV-2 Infection in Patients with Chronic Kidney Disease and Lung Disease. Outcomes and Referral for Palliative Care in a Tertiary Center in SÃo Paulo, Brazil

BACKGROUND AND AIMSCoronavirus disease 2019 (COVID-19) is mainly an infectious disease of the respiratory system transmitted through air droplets, and pulmonary symptoms constitute the main presentations of this disease [1]. The first cases of the disease were identified in Wuhan, China, which occurred in early December 2019. Initially, it was called pneumonia of unknown origin, severe acute (SARS-CoV-2) [2]. In addition to being a target of the virus, the kidney also seems to have a substantial influence on the outcomes of the disease [3]. Underlying kidney disease is an emerging risk factor for more severe coronavirus disease 2019 (COVID-19) illness [4]. Identifying patients who require a palliative care approach is challenging for family physicians, even though several identification tools have been developed for this purpose. The Supportive and Palliative Care Indicators Tool (SPICT™) aims at facilitating this identification [5]. The aim of this study is to compare the outcomes presented between patients with nephropathy and lung disease in the first wave of COVID-19 assisted by a reference center in Brazil.METHODThis study is a data analysis from patients assisted by a reference center in São Paulo, Brazil, which includes 2013 patients from March to July of 2020. This period consists on the first wave of COVID-19 infection in this country. In addition, a literature review was conducted, papers were selected searching PubMed/Medline, SciELO and LILACS databases using the terms (COVID-19) AND (nephropathy) AND (pneumopathy) AND (outcomes) in January 2022. There were no language or publication date restrictions. Also, we used the (SPICT™ to classify the patients for treatment with palliative care.RESULTSAmong 2013 patients included in our study, 223 had nephropathy, 127 males and 96 females. As for pulmonary disease, there were 155 patients, 93 males and 62 females. Furthermore, among pneumopathy patients, 65% were >60 years old, and, among renal patients, 47% approximately were >60 years old. In addition, the mean age of the renal patients’ group was lower than the group of patients with lung disease. The outcomes in the nephropathy group consisted in 109 discharges and 114 deaths. In the group of pulmonary patients, 90 were discharged and 59 died; the other patients were transferred to specialized services. Renal patients presented worse outcomes than pulmonary patients, even though COVID-19 mainly affects the lung, our patients had substantial impact of its infection. Despite the fact that SPICTTM identified 41 renal patients eligible for palliative care, only 31 were referred to this service at the hospital where the study was conducted. When compared with the total population of this study, the renal patient's group was the third with the highest number of hospitalizations due to COVID-19.CONCLUSIONRenal patients had a worse prognosis when compared with patients with lung disease and the total population. The outcomes could have been different if all renal patients had been referred and treated with palliative care.

Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center.

Hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy is a rare, inherited, multisystem, and often fatal disease caused by a variant in transthyretin (TTR) gene. Baseline characteristics of patients, especially anthropometric data, are scarce in the literature, and they are relevant to define effective treatment strategies. This study aimed to describe baseline demographic, anthropometric, and disease characteristics in a cohort of patients from a reference center in Brazil. Symptomatic patients not previously included in clinical trials and eligible for treatment were enrolled. Ethnicity, state of residence, age, sex, weight, height, body mass index (BMI), TTR variant, and Polyneuropathy Disability Score (PND) at diagnosis were analyzed. Among the 108 patients enrolled, 58.33% were male, 60.19% were Caucasian, and 83.33% lived in the Southeast region. Mean age was 51.61 (±16.37) years, mean weight was 65.76 (±15.16) kg, mean height was 168.33 (±10.26) cm, and mean BMI was 23.11 (±4.45) kg/m2. The most prevalent variant was V30M (86.11%). Patients with PND score 0 presenting autonomic neuropathy were 14.81%. Patients with PND score I-II and III-IV were 52.78 and 32.41%, respectively. Mean weight and BMI were significantly lower in patients with sensory-motor manifestations. This is the largest cohort of patients in Brazil for whom anthropometric characteristics have been described. Baseline demographic, anthropometric, and disease data indicate that delay in diagnosis of hATTR amyloidosis with polyneuropathy is still a problem and that efforts must be made to expedite diagnosis and maximize opportunities for new disease-modifying treatments.

N02 The importance of the multidisciplinary team (MDT) and its impact on quality of life and medication adherence in patients with Inflammatory Bowel Disease

Abstract Background IBD is a chronic immune-mediated disease that requires continuous patient care. The frequent contact and the good relationship with the multidisciplinary team (MDT) are essential for improving quality of life (QoL) and medication adherence aiming at treatment success. The aim of the study was to assess the importance of MDT in the view of patients with IBD and its impact on QoL and in medication adherence. Methods A cross-sectional study was carried out, including 114 patients from an IBD reference center in Brazil. The relevance of MDT was assessed through a questionnaire that included the importance of physicians, nurses, nutritionists and psychologists in the patient care. QoL was assessed by IBDQ. Treatment adherence and knowledge about the disease were assessed using the Morisky and CCKNOW questionnaires, respectively. Results In total, 69 (60.53%) patients with CD and 45 (39.47%) patients with UC were included. The mean age was 39.16 (±13.50) years and 58.77% were female. The disease duration was 9.88 (±7.35) years. Presence of comorbidities was observed in 52.63% patients. About 57 (82.61%) patients with CD use biological therapy, with a statistical difference (p &amp;lt;0.0001) when compared to patients with UC (37.78%). The gastroenterologist was considered very important by 91.23% of patients, coloproctologist by 62.07% of patients, nurse by 65.05% of patients, nutritionist by 50% of patients and psychologist by 47.25% of patients. In the analysis of QoL, 24 (21.05%) patients had excellent QoL, 52 (45.61%) had good QoL, 29 (25.44%) had regular QoL and 9 (7.89%) had poor QoL, with no difference between patients who followed with nurses or other MDT professionals (Table 1). Medication adherence was low in 58.88% of patients. Knowledge about the disease was low (6.21 ± 3.99 points), being higher among patients with CD (p = 0.01). Patients identify the doctor as the main provider of care for their health, but about 10% leave with doubts from their appointments. 10% of patients think that more care with the nurse is necessary and less than 10% of patients are clarified by the nurse about QoL, ostomies, fecal incontinence, disease activity, biological therapy and sexuality. Conclusion Patients considered doctors as the most important professionals in their care. Although the service has a multidisciplinary team, not all patients had the opportunity to consult with all professionals, mainly do the Covid pandemic in 2020 and 2021. The lack of contact with the entire team, especially with the nurse, may have contributed to low medication adherence and low knowledge of the disease, impacting disease control and QoL.

Analyzing giant pituitary adenomas: An 8-year review (2012–2020) at a reference center in Brazil

PurposeThis study aimed to review the cases of giant adenomas that were operated on from 2012 to 2020 and to analyze the epidemiological profile, complications, and resection rates using the transseptal/transnasal endoscopy technique. We also compared the results with data from revised literature. MethodsThis is an observational, retrospective study includes a review of the medical records of 26 patients diagnosed with giant adenomas (diameter > 4 cm or volume >10 cm3) who underwent 28 surgical procedures. ResultsOf the 57 patients operated for pituitary adenoma, 26 (50.8%) had giant adenomas. The mean volume was 17.28 cm3 (95% confidence interval [CI], 8.3359–26.2241). Moreover, 64.28% of the patients were graded Knosp 3 (p < 0.0001). Most cases were of nonsecretory adenomas (88.46%). Visual impairment was present in 89.2% of the patients and hormonal deficit and headache affected 53.5% of them. The visual impairment improved in 60% of the patients. The most common surgical complication was cerebrospinal fluid fistula (10.71%). Tumor resection > 90% was achieved in 53.56% of the cases, and the mean resection rate was 78.36% (95% CI, 71.316–87.956). ConclusionsThe endoscopic endonasal technique is a good treatment option for giant adenomas, showing satisfactory optic apparatus decompression rates and a low incidence of complications when performed by surgeons with expertise in this approach.

Impact of a computer system as a triage tool in the management of pulmonary tuberculosis in a HIV reference center in Brazil.

ABSTRACTBackground: The Neural Clinical Score for tuberculosis (NCS-TB) is a computer system developed to improve the triage of presumed pulmonary TB (pPTB). Methods: A study was performed with cohorts of pPTB patients cared for at a reference hospital in Northeast Brazil. Results: The NCS-TB sensitivity was 76.5% for TB diagnosis, which shortened the time from triage to smear microscopy results (3.3 to 2.5 days; p<0.001) and therapy initiation (6.7 to 4.1 days; p=0.045). Conclusions: Although the NCS-TB was not suitable as a screening tool, it was able to optimize laboratory diagnosis and shorten the time to treatment initiation.

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil.

The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes that code for enzymes, cofactors, or structural proteins affecting different metabolic pathways. The aim of this study was to evaluate how COVID-19 affected the diagnosis of patients with IEM during the first year of the pandemic in Brazil comparing two distinct periods: from March 1st, 2019 to February 29th, 2020 (TIME A) and from March 1st, 2020 to February 28th, 2021 (TIME B), by the analysis of the number of tests and diagnoses performed in a Reference Center in South of Brazil. In the comparison TIME A with TIME B, we observe a reduction in the total number of tests performed (46%) and in the number of diagnoses (34%). In both periods analyzed, mucopolysaccharidoses (all subtypes combined) was the most frequent LD suspected and/or confirmed. Our data indicates a large reduction in the number of tests requested for the investigation of IEM and consequently a large reduction in the number of diagnoses caused by the COVID-19 pandemic leading to a significant underdiagnosis of IEM.

Clinical Impact of the Line Probe Assay and Xpert® MTB/RIF Assay in the Presumptive Diagnosis of Drug-Resistant Tuberculosis in Brazil: A Pragmatic Clinical Trial.

ABSTRACTBackground: Rapid molecular methods such as the line probe assay (LPA) and Xpert® MTB/RIF assay (Xpert) have been recommended by the World Health Organization for drug-resistant tuberculosis (DR-TB) diagnosis. We conducted an interventional trial in DR-TB reference centers in Brazil to evaluate the impact of the use of LPA and Xpert. Methods: Patients with DR-TB were eligible if their drug susceptibility testing results were available to the treating physician at the time of consultation. The standard reference MGITTM 960 was compared with Xpert (arm 1) and LPA (arm 2). Effectiveness was considered as the start of the appropriate TB regimen that matched drug susceptibility testing (DST) and the proportions of culture conversion and favorable treatment outcomes after 6 months. Results: A higher rate of empirical treatment was observed with MGIT alone than with the Xpert assay (97.0% vs. 45.0%) and LPA (98.2% vs. 67.5%). Patients started appropriate TB treatment more quickly than those in the MGIT group (median 15.0 vs. 40.5 days; p<0.01) in arm 1. Compared to the MGIT group, culture conversion after 6 months was higher for Xpert in arm 1 (90.9% vs. 79.3%, p=0.39) and LPA in arm 2 (80.0% vs. 83.0%, p=0.81). Conclusions: In the Xpert arm, there was a significant reduction in days to the start of appropriate anti-TB treatment and a trend towards greater culture conversion in the sixth month.

Prognostic Value of an Estimate-of-Risk Model in Critically Ill Obstetric Patients in Brazil.

To externally validate the CIPHER (Collaborative Integrated Pregnancy High-Dependency Estimate of Risk) prognostic model for pregnant and postpartum women admitted to the intensive care unit. A retrospective and a prospective validation study were conducted at two reference centers in Brazil. A composite outcome was defined as maternal death or need for prolonged organ support (more than 7 days) or acute lifesaving intervention. To evaluate the performance of the CIPHER model, a receiver operating characteristic curve was used and score calibration was assessed by the Hosmer-Lemeshow test. We conducted a descriptive analysis comparing the results of the current study with the results of the model development study. A total of 590 women were included. The composite outcome was observed in 90 (15.2%) women. Of these, 13 (2.2%) were maternal deaths and 77 (13%) required one or more component of organ support or lifesaving intervention. The CIPHER model's area under the curve (AOC) did not show significant predictive ability (AOC 0.53, 95% CI 0.46-0.60), and consequently its calibration was poor (Hosmer-Lemeshow test P<.05). The CIPHER model for prediction of mortality and need for interventions in critically ill obstetric patients did not perform well in our Brazilian population. Different predictors of morbidity and mortality may need to be used for patients receiving care in public hospitals in low- and middle-income countries.

Evolution of Mortality by Age Group in Patients With COVID-19 Above 60 Years of Age.

IntroductionThe severity of the diseases associated with the coronavirus worsen the results, increasing the mortality of these patients.ObjectiveThe aim of the present study is to report coronavirus disease 2019 (COVID-19) hospitalizations and mortality in 2,359 patients aged over 60 years in a reference center in Brazil.MethodThe evolution of hospitalizations and overall mortality of patients admitted to Hospital de Base were evaluated in a clinical trial, then selecting patients aged over 60 years, by age group every 10 years, from March 2020 to April 2021, and analyzing whether there was an increase in mortality in age groups, assessed by Fisher's exact test.ResultsThere was an increase in mortality over the decades in this period, but a reduction in hospitalizations after patient vaccination.ConclusionMortality in patients over 60 years of age is higher than in younger patients, where the vaccine has reduced their hospitalization, but individual patient protection regarding mortality needs further evaluation.