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Introduction: Few studies have reported the profile of patients with paroxysmal nocturnal hemoglobinuria (PNH) and their care in the Brazilian health system. Objective: To describe clinical and epidemiological characteristics of patients with PNH in the Brazilian public health system including procedures performed, associated comorbidities and visits to health care professionals. Methods: In a real-world observational, retrospective, population-based cohort study, anonymized secondary data provided by the Department of Informatics of the Brazilian Unified Health System (DATASUS) were analyzed. Patients were considered eligible if they had at least one procedure coded with the ICD-10 code D59.5 from January 1, 2008 to December 30, 2018. Results: In total, 675 individual PNH patients were identified (52.4% female; prevalence of 1:237,000 people). Around 15.8% of the patients included had myelodysplastic syndrome and about half of the sample had other aplastic anemias and/or other bone marrow failure syndromes. Portal vein thrombosis (I82 ICD code) was reported in 4.3% of patients. Regarding hospitalizations, 263 individual PNH patients had 416 inpatient admissions with the ICD code for PNH (D59.5) on admission. Twelve deaths occurred during the study period, of which two had the PNH ICD code related with the cause of death, while another three deaths were associated with acquired hemolytic anemia (D59.9), unspecified aplastic anemia (D61.9) and acute respiratory failure (J96.0), respectively. Conclusion: Despite its limitations, this statistical analysis of data extracted from DATASUS reasonably describes PNH patients in Brazil and its variations across different regions of the country. Comorbidities frequently associated with PNH such as portal vein thrombosis were not as common in our study, but it is assumed that several thrombotic events at specific sites were coded under the broader I82 ICD code. The frequency of visits to different health professionals, including hematologists, increased after the diagnosis of PNH. Among hospitalized PNH patients, the mortality rate was 4.5%. [ABSTRACT FROM AUTHOR]

Introduction: This study proposed to identify Fanconi anemia (FA) mutations in Brazilian patients and to investigate their impact on clinical manifestations and malignancies onset. Methods: A total of 116 patients were screened for nine mutations in FANCA, FANCC, FANCG. Those with no mutations were investigated by multiplex ligation‐dependent probe amplification (MLPA) and Sanger sequencing for FANCA, FANCC, FANCE, FANCF, FANCG, FANCD1/BRCA2. Results: Genetic subtype was identified in 107/116 (78 FA‐A, 8 FA‐C, 13 FA‐G, 8 FA‐E), with only one mutation in 1/116, and no mutations in 9/116 patients. Before hematopoietic cell transplantation (HCT), malignancies were detected in 16/116 patients (14/78 FA‐A, 01/08 FA‐C, 01/08 FA‐E), and 12 of them were hematological. Observed to expected ratio (O/E) of hematologic malignancy was 303.7 (95% CI = 148.6–458.7). Conclusion: This study allowed the identification of biallelic mutations in 91.4% of patients. FANCG and FANCC mutations had significantly earlier bone marrow failure onset, and FANCG severe cytopenia at diagnosis. Despite the inherent limitations of the small number of malignancy events in each genetic subtype, the hematologic malignancies O/E ratio was very high. Cumulative incidence of malignancy before HCT was higher in the third and fourth decades of life, considering HCT and death as competing risks. The cumulative incidence of HCT increased during the first decade, competing with malignancy development. [ABSTRACT FROM AUTHOR]

Copyright of Revista de Ciencias Médicas de Pinar del Río is the property of Editorial Ciencias Medicas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aplastic anemia (AA) is a rare serious hematologic disorder caused by hematopoietic stem cell failure in maintaining hematopoiesis. AA is virtually fatal if not treated, and diagnosis and therapy require extensive hematologic infrastructure. Academic medical centers in Brazil have continuously and significantly contributed to diagnostic tools and therapy development, from novel transplant strategies to drug combinations and implementation science in the national public health system. In the present review, we discuss how the collaborative effort among academic centers in hematology has contributed to improving health care for patients with aplastic anemia. We also discuss what needs are still unmet and how to overcome these challenges., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Diamond-Blackfan Anemia (DBA) is a rare heterogeneous genetic disease characterized by severe anemia, reduction or absence of erythroid progenitors, and pro-apoptoptic hematopoiesis, which culminates in bone marrow failure. The disease generally manifests in infancy, as craniofacial, cardiac, genitourinary, and upper limb congenital anomalies. Therapy with corticoids is the treatment of choice, while blood transfusion is adopted during diagnosis and as a chronic approach if the patient does not respond to corticoids. This case report describes DBA in a patient that presented with lesions on the oral mucosa caused by secondary neutropenia. The stomatologist plays an important role in a transdisciplinary team and must remain attentive to the general health conditions of patients, since some oral lesions may be associated with systemic events. [ABSTRACT FROM AUTHOR]

Objective: This study is aimed to evaluate craniofacial features in patients with Fanconi anemia (FA) through cephalometric analysis and to classify the facial growth pattern to observe possible facial discrepancies. Design: This is a cross-sectional study which employed a quantitative approach to compare linear and angular measurements of cephalometric analysis in lateral teleradiographic images of a clinical type sample of patients with FA. A retrospective cephalometric study was performed using cephalometric analyses of Ricketts and Steiner; growth patterns according to Ricketts' vertical growth pattern (VERT index) were also analyzed. Patients: Fifty patients diagnosed with FA who were undergoing anti-aplasia treatment at the outpatient Hematology service at the Federal University of Paraná, Curitiba, Brazil were included in the study. Interventions: The patients were evaluated in the School of Dentistry of the Pontifical Catholic University of Paraná (PUCPR), Curitiba, Brazil. Exclusion criteria included patients who had used or were using growth hormone medication, had undergone bone marrow transplant, or had been previously subjected to dental treatment. Main Outcome Measures: Cephalometric points were plotted in order to set up linear and angular cephalometric measurements. Angular and linear measurements from 17 factors proposed by Ricketts' cephalometric analysis were assessed. Results: Dolicofacial appearance was observed in 52% of individuals; braquifacial in 28%, and mesofacial in 20%. Significant maxillary/mandibular discrepancy was observed. It was concluded that upon anteroposterior evaluation of facial bone structures, the FA sample presented smaller median measurements in most variables evaluated; it also presented mandibular micrognathism and mainly dolicofacial vertical growth pattern. These findings, together with other features such as skin pigmentation and microphthalmia, may lead to a possible recognition of a FA condition from a patient's facial features. [ABSTRACT FROM AUTHOR]

Copyright of Revista Ciência & Saúde Coletiva is the property of Associacao Brasileira de Pos-Graduacao em Saude Coletiva and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder caused by the expansion of a hematopoietic clone harboring a somatic genetic variant in the PIG-A gene translating into a wide spectrum of clinical and laboratory changes, from intravascular hemolysis, thrombosis, and bone marrow failure to subclinical presentation. In this study, we retrospectively analyzed 87 consecutive cases (39 women; median follow-up, 18 months; range, 0-151 months) in whom a PNH clone was detected by flow cytometry between 2006 and 2019 seen at a single Brazilian referral center. The median age at diagnosis was 29 years (range, 8 to 83 years); 29 patients (33%) were initially classified as PNH/bone marrow failure, 13 (15%) as classic PNH, and 45 (52%) as subclinical PNH. The median overall survival (OS) of the entire cohort was not reached during follow-up, without significant differences between groups. At diagnosis, the median PNH clone size was 2.8% (range, 0 to 65%) in erythrocytes and 5.4% (range, 0 to 80%) in neutrophils. Fourteen patients experienced clone expansion during follow-up; in other 14 patients the clone disappeared, and in 18 patients it remained stable throughout the follow-up. A subclinical PNH clone was detected in three telomeropathy patients at diagnosis, but it was persistent and confirmed by DNA sequencing in only one case. In conclusion, PNH presentation was variable, and most patients had subclinical disease or associated with marrow failure and did not require specific anticomplement therapy. Clone size was stable or even disappeared in most cases., (© 2022. The Author(s).)

Severe aplastic anemia is a life-threatening disease usually treated with immunosuppression or HSCT. This is a multicenter retrospective study that included 78 patients who have undergone haploidentical HSCT with PTCy for severe aplastic anemia in Brazil between 2010 and 2019. Median age was 14 y/o (range: 1-69), and most patients had been heavily transfused. Conditioning regimen was FluCyTBI-based, and GVHD prophylaxis consisted of PTCy, MMF, and tacrolimus (13%) or cyclosporine (87%). Most grafts (92%) were bone marrow. One-year OS was 81%, and it was lower in females (HR=4.6; P=0.007) and in those who had graft failure or poor graft function (HR=10.3; P<0.0001). One-year EFS, which included graft failure and poor graft function, was 71%. Graft failure or poor graft function occurred in 21%, which was higher in patients who had not been previously exposed to ATG or alemtuzumab (HR=0.16; P=0.001), and lower in patients who received 50 mg/kg Cy in the conditioning regimen (HR=0.14; p = 0.07). There was no graft failure in the 14 patients who received TBI 300-400 cGy, only one had poor graft function. The addition of ATG to the conditioning regimen has not protected against graft failure (4 graft failures out of 9). Incidences of both aGVHD (16% grades II-IV) and cGVHD (10% at 1 year) were low. CMV reactivation was frequent (61%) and related to aGVHD, donor age > 30 y/o and lower TNC dose. In conclusion, we have shown that haploidentical transplantation for SAA is feasible. The incidence of graft failure/poor graft function was high, and increasing the TBI dose to 300-400 cGy or Cy to 50 mg/kg in the conditioning regimen may overcome graft failure, but not the addition of ATG. Patients who had not been previously exposed to ATG or alemtuzumab might be at high risk of graft failure. High cellular bone marrow grafts should be pursued. [ABSTRACT FROM AUTHOR]

In Brazil, cost-effectiveness analysis is not the only indicator to orient the decision-making process, especially due to the absence of a willingness-to-pay threshold. Using an alternative health technology assessment (HTA) model, this study aimed to evaluate the incorporation of eltrombopag olamine for the treatment of refractory severe aplastic anemia (SAA) in the Brazilian supplementary healthcare system (SHS). [Extracted from the article]

In this study, we report on major MRD or URD BMT outcomes in pediatric patients with SAA in Brazil. This was a retrospective study, which included 106 patients ≤18 years old who received a first BMT for SAA. All patients received bone marrow as graft source from an MRD (n = 69) or a URD (n = 37). Conditioning regimen was non‐myeloablative in 73.6% of cases, and GVHD prophylaxis comprised a calcineurin inhibitor plus methotrexate in 89.6% of patients. After a median follow‐up of 4.5 years after BMT, 81 patients are alive, with a 4‐year OS of 77% and no statistically significant difference between the MRD and URD groups (82% vs. 69%, respectively; P = .08). Grade III‐IV aGVHD at 6 months and cGVHD at 2 years were observed in 8% and 14% of cases, respectively, and were not statistically different between the groups. Twenty‐five (23%) patients died at a median of 2.9 months after BMT. Our study showed that 4‐year OS after BMT was not statistically different between MRD and URD recipients. This study shows that the outcomes of pediatric patients transplanted for SAA with a URD in Brazil are approaching those of MRD transplants. In contrast, OS after MRD BMT was lower than we would expect based on previous reports. The wide range of preparatory regimens used by the study centers highlights the need for standardized protocols for these children. Our findings provide a benchmark for future studies focused on improving BMT outcomes in this setting in Brazil. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the outcome of children with severe acquired aplastic anemia treated with rabbit antithymocyte globulin and cyclosporine as first-line treatment at this institution., Methods: Retrospective analysis of 26 pediatric patients with aplastic anemia, treated between 1996 and 2011 with rabbit antithymocyte globulin plus cyclosporine., Results: The overall response rate at six months was 34.6% (9/26), and the cumulative incidence of relapse was 26.5% (95% confidence interval [CI]: 1.4%-66%) at 5 years. The cumulative incidence of clonal evolution after immunosuppressive therapy was 8.3% (95% CI: 0.001%-53.7%) at five years with both clonal evolutions in non -responders who acquired monosomy 7 karyotype. The overall survival at five years was 73.6% (95% CI: 49.2%-87.5%)., Conclusions: The present results confirm the poor response rate with rabbit antithymocyte globulin as first therapy in pediatrics patients, similar to what has been reported for patients of all ages. This confirmation is problematic in Brazil, given the lack of horse antithymocyte globulin in many markets outside the United States., (Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)