20 results on '"Ida Vanessa D. Schwartz"'
Search Results
2. Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry
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Deborah Elstein, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Diego Fernandez-Sasso, Pilar Giraldo, Özlem Göker-Alpan, Derralynn Hughes, Heather Lau, Elena Lukina, Shoshana Revel-Vilk, Ida Vanessa D. Schwartz, Majdolen Istaiti, Jaco Botha, Noga Gadir, Jörn Schenk, and Ari Zimran
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velaglucerase alfa ,enzyme replacement therapy ,ERT ,Gaucher disease ,GOS ,registry ,Medicine - Abstract
Background: Long-term patient registries are important for evaluating treatment outcomes in patients with rare diseases, and can provide insights into natural disease history and progression in real-world clinical practice. Initiated in 2010, the Gaucher Outcome Survey (GOS) is an ongoing, international, multicenter, observational registry (ClinicalTrials.gov Identifier: NCT03291223) for patients with a diagnosis of Gaucher disease (GD), irrespective of treatment type or status, with a primary objective to monitor safety and long-term effectiveness of velaglucerase alfa. Methods: Here, we evaluated the GOS population 12 years after the registry initiation. Results: As of 25 February 2023, 2084 patients enrolled in the GOS and 1643 received GD-specific treatment. Patients exhibited broad heterogeneity at baseline: age of diagnosis (0 to 85.3 years), hemoglobin concentrations (150 g/L), platelet counts (9/L to >450 × 109/L), and liver and spleen volumes. Most patients treated with enzyme replacement therapy or substrate reduction therapy reported improvements in clinical parameters within 1 year of treatment initiation, maintained over the course of treatment up to 12 years, whereas untreated patients had baseline values closer to standard reference thresholds and showed stability over time. Conclusion: The 12-year data from the GOS confirm the impact of long-term treatment with GD-specific agents and offer insights into disease progression and outcomes in a real-world setting.
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- 2024
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3. A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
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Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano O. Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, and Ida Vanessa D. Schwartz
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Gaucher disease ,glucosylceramide ,multiple myeloma ,CSF ,Biology (General) ,QH301-705.5 ,Chemistry ,QD1-999 - Abstract
Gaucher disease (GD, OMIM 230800) is one of the most common lysosomal disorders, being caused by the deficient activity of the enzyme acid β-glucocerebrosidase (Gcase). Three clinical forms of Gaucher’s disease (GD) are classified based on neurological involvement. Type 1 (GD1) is non-neuronopathic, while types 2 (GD2) and 3 (GD3) are neuronopathic forms. Gcase catalyzes the conversion of glucosylceramide (GlcCer) into ceramide and glucose. As GlcCer accumulates in lysosomal macrophages, it undergoes deacylation to become glycosylsphingosine (lyso-Gb1), which has shown to be a useful and reliable biomarker for the diagnosis and monitoring of treated and untreated patients with GD. Multiple myeloma (MM) is one of the leading causes of cancer-related death among patients with GD and monoclonal gammopathy of undetermined significance (MGUS) is a non-neoplastic condition that can be a telltale sign of a B clonal proliferation caused by the chronic activation of B cells. This study aimed to quantify Lyso-Gb1 levels in dried blood spots (DBS) and cerebrospinal fluid (CSF) as biomarkers for Gaucher disease (GD) and discuss the association of this biomarker with other clinical parameters. This is a mixed-methods study incorporating both cross-sectional and longitudinal elements within a cohort design with a convenience-sampling strategy. Data collection took place from January 2012 to March 2023. Lyso-Gb1 extraction from DBS involved the use of a methanol–acetonitrile–water mixture, followed by incubation and centrifugation. Analysis was performed using UPLC-MS/MS with MassLynx software version 4.2 and the control group for the DBS measurements included general newborns. CSF Lyso-Gb1 was extracted using ethyl acetate, analyzed by UPLC-MS/MS with a calibration curve, and expressed in pmol/L. Lysosomal activity in CSF was assessed by measuring chitotriosidase (Cht), and other lysosomal enzyme activities were assessed as previously described in the literature. Patients with metachromatic leukodystrophy (MLD) were used as controls. Thirty-two treated patients (twenty-nine GD1 and three GD3, all on ERT except for one GD type on SRT with eliglustat) and three untreated patients (one GD1, one GD2, and one GD3) were included. When analyzing only the treated GD1 group, a significant correlation was found between lyso-Gb1 and age (rho = −0.447, p = 0.001), ChT, and IgG levels (rho = 0.73, p < 0.001; and rho = 0.36, p = 0.03, respectively). Five GD1 patients (three females, mean age 40 years) also had their CSF collected and analyzed. The average measurement of lyso-Gb1 in CSF was 94 pmol/L (range: 57.1–157.9 pmol/L) versus
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- 2024
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4. Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials
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Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen, and Ari Zimran
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Patient-reported outcomes ,PROM ,Gaucher disease ,Lysosomal storage disorder ,Questionnaire ,Content validation ,Medicine - Abstract
Abstract Background Disease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated conversations about treatments and outcomes. However, generic PROMs may fail to capture disease-specific concerns. Here we report the development and validation of a Gaucher disease (GD)-specific PROM for patients with type 1 Gaucher disease (GD1) a lysosomal storage disorder characterized by hepatosplenomegaly, thrombocytopenia, anemia, bruising, bone disease, and fatigue. Results and discussion The questionnaire was initially developed with input from 85 patients or parents of patients with GD1 or GD3 in Israel. Owing to few participating patients with GD3, content validity was assessed for patients with GD1 only. Content validity of the revised questionnaire was assessed in 33 patients in the US, France, and Israel according to US Food and Drug Administration standards, with input from a panel of six GD experts and one patient advocate representative. Concept elicitation interviews explored patient experience of symptoms and treatments, and a cognitive debriefing exercise explored patients’ understanding and relevance of instructions, items, response scales, and recall period. Two versions of the questionnaire were subsequently developed: a 24-item version for routine monitoring in clinical practice (rmGD1-PROM), and a 17-item version for use in clinical trials (ctGD1-PROM). Psychometric validation of the ctGD1-PROM was assessed in 46 adult patients with GD1 and re-administered two weeks later to examine test–retest reliability. Findings from the psychometric validation study revealed excellent internal consistency and strong evidence of convergent validity of the ctGD1-PROM based on correlations with the 36-item Short Form Health Survey. Most items were found to show moderate, good, or excellent test–retest reliability. Conclusions Development of the ctGD1-PROM represents an important step forward for researchers measuring the impact of GD and its respective treatment.
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- 2022
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5. Assessment of quality of life in Gaucher disease: A methodological approach
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Vitória S. Zizemer, Tatiele Nalin, Ida Vanessa D. Schwartz, and Ana Paula Vanz
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Genetics ,QH426-470 - Abstract
This letter discusses the use of Lansky Score as an instrument for assessing quality of life in Gaucher Disease.
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- 2021
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6. Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey
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Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, and Patrick Deegan
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Type 3 Gaucher disease ,Gaucher Outcome Survey ,Velaglucerase alfa ,Enzyme replacement therapy ,Medicine (General) ,R5-920 ,Biology (General) ,QH301-705.5 - Abstract
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3. The majority of patients with GD3 were from the US (13; 50.0%), seven (26.9%) were from the UK, three (11.5%) from Israel, and three (11.5%) from Brazil. No patients were of Ashkenazi Jewish origin. Median age of symptom onset was 1.4 (interquartile range: 0.5–2.0) years. The most common GBA1 mutation genotype was L444P/L444P, occurring in 16 (69.6%) of 23 patients who had genotyping information available. Nine patients reported a family history of GD (any type). Of 21 patients with treatment status information, 20 (95.2%) had received GD-specific treatment at any time, primarily imiglucerase (14 patients) and/or velaglucerase alfa (13 patients). Hemoglobin concentrations and platelet counts at GOS entry were within normal ranges for most patients, and there were no reports of severe hepatomegaly or of splenomegaly in non-splenectomized patients, most likely indicative of the effects of treatment received prior to GOS entry. This analysis provides information on the characteristics of patients with GD3 that could be used as the baseline for longitudinal follow-up of these patients.
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- 2018
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7. Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™
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Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires, and Têmis Maria Félix
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Osteogenesis imperfecta ,Quality of life ,Sickness impact profile ,Child ,Adolescent ,Pediatrics ,RJ1-570 - Abstract
Abstract Background Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil. Methods In this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQLTM) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated. Results The sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains. Conclusions Overall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control.
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- 2018
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8. The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease
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Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, and Ida Vanessa D. Schwartz
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ferritin ,biomarkers ,Gaucher disease ,iron metabolism ,Genetics ,QH426-470 - Abstract
Abstract The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy (n = 2), and ferritin was found to decrease from 756 [318-1441] ng/mL at baseline to 521 [227-626] ng/mL (p=0.025) after 28.8 month soft treatment. Serum ferritin levels did not correlate with measures of disease severity, but showed an association with age at onset of treatment (ρ= 0.880; n = 18; p < 0.001). In conclusion, although serum ferritin did not correlate with disease severity, after a median 28.8 months of treatment, clinical outcomes had clearly improved, and ferritin levels had decreased.
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- 2016
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9. Analysis of body composition and nutritional status in Brazilian phenylketonuria patients
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Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, and Ida Vanessa D. Schwartz
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Inborn errors of metabolism ,Phenylketonuria ,Nutritional status ,Body composition ,Bioelectrical impedance ,Medicine (General) ,R5-920 ,Biology (General) ,QH301-705.5 - Abstract
Background: Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase. PKU patients must follow a Phe-restricted diet, which may put them in risk of nutritional disturbances. Therefore, we aimed to characterize body composition parameters and nutritional status in Brazilian PKU patients also considering their metabolic control. Methods: Twenty-seven treated PKU patients older than 5 years, and 27 age- and gender-matched controls, were analyzed for anthropometric features and body composition by bioelectrical impedance (BIA). Patients' metabolic control was assessed by historical Phe levels. Results: There was no effect of PKU type, time of diagnosis, or metabolic control for any analyzed parameter. About 75% of patients and controls were eutrophic, according to their BMI values. There were no difference between groups regarding body composition and other BIA-derived parameters. Conclusions: Brazilian PKU patients do not show differences in body composition and nutritional status in comparison with controls, regardless metabolic control. Although similar to controls, PKU patients may be in risk of disturbed nutritional and metabolic markers as seen for the general population.
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- 2016
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10. Maple syrup urine disease in Brazil: a panorama of the last two decades
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Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, and Carolina Fischinger Moura de Souza
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Doença da urina de xarope de bordo ,DXB ,Erros inatos do metabolismo ,Diagnóstico ,Pediatrics ,RJ1-570 - Abstract
OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.
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- 2015
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11. Maple syrup urine disease in Brazil: a panorama of the last two decades
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Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, and Carolina Fischinger Moura de Souza
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Maple syrup urine disease ,MSUD ,Inborn errors of metabolism ,Diagnosis ,Pediatrics ,RJ1-570 - Abstract
Objective: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. Results: Eighty‐three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57‐7). Median age at onset of symptoms was 10 days (IQR 5‐30), whereas median age at diagnosis was 60 days (IQR 29‐240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. Conclusion: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.
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- 2015
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12. Maple syrup urine disease in Brazil: a panorama of the last two decades
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Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, and Carolina Fischinger Moura de Souza
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Pediatrics ,RJ1-570 - Abstract
Objective: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. Results: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57–7). Median age at onset of symptoms was 10 days (IQR 5–30), whereas median age at diagnosis was 60 days (IQR 29–240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. Conclusion: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country. Resumo: Objetivo: Caracterizar uma amostra de pacientes brasileiros com a doença da urina de xarope de bordo (DXB) diagnosticados entre 1992 e 2011. Métodos: Neste estudo retrospectivo, os pacientes foram identificados por meio de um laboratório de referência nacional para o diagnóstico de DXB e por meio do contato com outros serviços de genética médica no Brasil. Os dados foram coletados por meio de uma revisão de prontuários. Resultados: 83 pacientes de 75 famílias foram incluídos no estudo (idade média: 3 anos; intervalo interquartil (IQR): 0,57-7). A idade média no surgimento dos sintomas era de 10 dias (IQR: 5-30), ao passo que a idade média no diagnóstico era de 60 dias (IQR: 29-240; p = 0,001). Somente três (3,6%) pacientes foram diagnosticados antes do surgimento de manifestações clínicas. Uma comparação entre pacientes com (n = 12) e sem (n = 71) um diagnóstico precoce mostra que o diagnóstico precoce está associado à presença de histórico familiar positivo e à redução na prevalência de manifestações clínicas no momento do diagnóstico, porém sem melhor resultado. Em geral, 98,8% dos pacientes têm algum atraso no desenvolvimento psicomotor ou neurológico. Conclusão: No Brasil, os pacientes com DXB normalmente recebem um diagnóstico tardio e exibem um envolvimento neurológico e baixa sobrevivência, mesmo com um diagnóstico precoce. Sugerimos que políticas públicas específicas para o diagnóstico e tratamento da DXB sejam desenvolvidas e implementadas no país. Keywords: Maple syrup urine disease, MSUD, Inborn errors of metabolism, Diagnosis, Palavras-chave: Doença da urina de xarope de bordo, DXB, Erros inatos do metabolismo, Diagnóstico
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- 2015
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13. Consequências da judicialização das políticas de saúde: custos de medicamentos para as mucopolissacaridoses Consequences of the judicialization of health policies: the cost of medicines for mucopolysaccharidosis
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Debora Diniz, Marcelo Medeiros, and Ida Vanessa D. Schwartz
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Jurisprudência ,Mucopolissacaridoses ,Política de Saúde ,Jurisprudence ,Mucopolysaccharidoses ,Health Policy ,Medicine ,Public aspects of medicine ,RA1-1270 - Abstract
O estudo analisa os gastos da judicialização de medicamentos para a mucopolissacaridose (MPS), uma doença rara, de alto custo, fora da política de assistência farmacêutica e com benefício clínico. O levantamento de dados foi realizado nos arquivos de 196 dossiês que determinou que o Ministério da Saúde fornecesse medicamentos no período entre 2006 e 2010, e nos registros administrativos e contábeis do Ministério da Saúde. A análise identifica sujeição do governo brasileiro a monopólios de distribuição de medicamentos e, consequentemente, perda de sua capacidade de administrar compras. Também identifica que a imposição da aquisição imediata e individualizada impede a obtenção de economias de escala com a compra planejada de maiores quantidades de medicamento, e impõe dificuldades logísticas para o controle das quantidades consumidas e estocadas. Conclui-se que a judicialização decorre da ausência de uma política clara do sistema de saúde para doenças raras em geral, e tem como consequência gastos acima do necessário para o tratamento.This study analyzes expenditures backed by court rulings to ensure the public provision of medicines for treatment of mucopolysaccharidosis (MPS), a rare disease that requires high-cost drugs not covered by the Brazilian government's policy for pharmaceutical care and which have disputed clinical efficacy. The methodology included a review of files from 196 court rulings ordering the Brazilian Ministry of Health to provide the medicines, in addition to Ministry of Health administrative records. According to the analysis, the "judicialization" of the health system subjected the Brazilian government to a monopoly in the distribution of medicines and consequently the loss of its capacity to manage drug purchases. The study also indicates that the imposition of immediate, individualized purchases prevents obtaining economies of scale with planned procurement of larger amounts of the medication, besides causing logistic difficulties in controlling the amounts consumed and stored. In conclusion, litigation results from the lack of a clear policy in the health system for rare diseases in general, thereby leading to excessive expenditures for MPS treatment.
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- 2012
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14. A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
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Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, and Ida Vanessa D. Schwartz
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22q13 deletion ,apparently balanced translocation ,ARSA gene ,arylsulfatase A pseudodeficiency ,metachromatic leukodystrophy ,Genetics ,QH426-470 - Abstract
A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features.
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- 2012
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15. Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing
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Nataniel Floriano Ludwig, Fernanda Sperb-Ludwig, Renata Voltolini Velho, and Ida Vanessa D. Schwartz
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Mucolipidosis III gamma ,Next-generation sequencing ,De novo alteration ,Medicine (General) ,R5-920 ,Biology (General) ,QH301-705.5 - Published
- 2017
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16. Avaliação da motricidade orofacial em pacientes com mucopolissacaridose: um estudo transversal Evaluation of orofacial motricity in patients with mucopolysaccharidosis: a cross-sectional study
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Giovana S. Turra and Ida Vanessa D. Schwartz
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Mucopolissacaridose ,fonoterapia ,sistema estomatognático ,Mucopolysaccharidosis ,speech therapy ,stomatognathic system ,Pediatrics ,RJ1-570 - Abstract
OBJETIVO: Caracterizar o sistema estomatognático e as funções estomatognáticas de pacientes com mucopolissacaridose. MÉTODOS: Estudo transversal e observacional de pacientes com mucopolissacaridose atendidos no ambulatório do Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre. O critério de inclusão foi a existência de diagnóstico bioquímico ou molecular de qualquer tipo de mucopolissacaridose e a concordância em participar do estudo mediante assinatura do termo de consentimento livre e esclarecido. Foram avaliados 78 pacientes através de anamnese e exame físico fonoaudiológicos. RESULTADOS: Alterações em pelo menos um item de cada estrutura do sistema estomatognático ou função estomatognática foram encontradas em todos os pacientes que permitiram a avaliação de ambos estes itens do exame físico (n = 76/78). As estruturas e funções mais frequentemente comprometidas foram, respectivamente, a arcada dentária e a língua e a deglutição e a mastigação. A única diferença estatisticamente significativa encontrada entre os tipos de mucopolissacaridose envolveu a posição habitual da língua entre os dentes (mais frequente na mucopolissacaridose VI). Entre os pacientes com mucopolissacaridose I, II ou VI submetidos ou não à terapia de reposição enzimática, foi encontrada diferença estatisticamente significativa no modo oral de respiração (mais frequente no grupo sem terapia de reposição enzimática). CONCLUSÕES: Alterações dos sistemas e funções estomatognáticas são prevalentes em indivíduos com mucopolissacaridose, mesmo na vigência de terapia de reposição enzimática. Tal achado sugere que o acompanhamento fonoterápico tenha papel importante no plano de tratamento desse grupo de doenças, hipótese que deve ser confirmada por estudos adicionais.OBJECTIVE: To characterize the stomatognathic system and stomatognathic functions in patients with mucopolysaccharidosis. METHODS: Cross-sectional and observational study of patients with mucopolysaccharidosis seen at the outpatient clinic at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre. The inclusion criteria were the existence of a biochemical or molecular diagnosis of any type of mucopolysaccharidosis and the agreement to participate in the study by signing an informed consent form. Seventy-eight patients were evaluated through phonoaudiological anamnesis and physical exam. RESULTS: Alterations in at least one item of each structure of the stomatognathic system or stomatognathic function were found in all patients who allowed evaluation of both items on physical examination (n = 76/78). The most frequently compromised structures and functions were respectively the dental arch and the tongue, swallowing and mastication. The only statistically significant difference found between types of mucopolysaccharidosis involved the habitual position of the tongue between the teeth (most frequent in mucopolysaccharidosis VI). Among patients with mucopolysaccharidosis I, II or VI who underwent enzyme replacement therapy or not, there was statistically significant difference in oral breathing mode (more frequent in the group without enzyme replacement therapy). CONCLUSIONS: Alterations in stomatognathic systems and functions are prevalent among individuals with mucopolysaccharidosis, even if enzyme replacement therapy is administered. Such finding suggests that speech therapy follow-up plays a major role in the treatment plan of this group of diseases; this hypothesis should be confirmed by additional studies.
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- 2009
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17. Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis.
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Brígida Dias Fernandes, Bárbara Corrêa Krug, Fernanda D'Athayde Rodrigues, Hérica Núbia Cardoso Cirilo, Stéfani Sousa Borges, Ida Vanessa D Schwartz, Livia Fernandes Probst, and Ivan Zimmermann
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Medicine ,Science - Abstract
BackgroundOnasemnogene abeparvovec has been approved for the treatment of spinal muscular atrophy 5q type 1 in several countries, which calls for an independent assessment of the evidence regarding efficacy and safety.ObjectiveConduct a meta-analysis to assess the efficacy and safety of onasemnogene abeparvovec in patients diagnosed with SMA type 1, based on the available evidence.MethodsThis article results from searches conducted on databases up to November 2022. Outcomes of interest were global survival and event-free survival, improvement in motor function and treatment-related adverse events. Risk of bias assessment and certainty of evidence were performed for each outcome. Proportional meta-analysis models were performed when applicable.ResultsFour reports of three open-label, non-comparative clinical trials covering 67 patients were included. Meta-analyses of data available in a 12-month follow-up estimate a global survival of 97.56% (95%CI: 92.55 to 99.86, I2 = 0%, n = 67), an event-free survival of 96.5% (95%CI: 90.76 to 99.54, I2 = 32%, n = 66) and a CHOP-INTEND score ≥ 40 points proportion of 87.28% (95%CI: 69.81 to 97.83, I2 = 69%, n = 67). Proportion of 52.64% (95%CI: 27.11 to 77.45, I2 = 78%, n = 67) of treatment-related adverse events was estimated.ConclusionThe results indicate a potential change in the natural history of type 1 SMA, but the methodological limitations of the studies make the real extent of the technology's long-term benefits uncertain.
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- 2024
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18. Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
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Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, and Patricia Ashton-Prolla
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Medicine ,Science - Abstract
[This corrects the article DOI: 10.1371/journal.pone.0187630.].
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- 2018
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19. BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
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Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, and Patricia Ashton-Prolla
- Subjects
Medicine ,Science - Abstract
BACKGROUND:Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). METHODS:In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HBOC testing criteria. We characterized the clinical profile of these individuals and explored the performance of international testing criteria. RESULTS:A pathogenic/likely pathogenic variant was detected in 19.1% of 418 probands, including seven novel frameshift variants. Variants of uncertain significance were found in 5.7% of individuals. We evaluated 50 testing criteria and mutation probability algorithms. There was a significant odds-ratio (OR) for mutation prediction (p ≤ 0.05) for 25 criteria; 14 of these had p ≤ 0.001. Using a cutoff point of four criteria, the sensitivity is 83.8%, and the specificity is 53.5% for being a carrier. The prevalence of pathogenic/likely pathogenic variants for each criterion ranged from 22.1% to 55.6%, and criteria with the highest ORs were those related to triple-negative breast cancer or ovarian cancer. CONCLUSIONS:This is the largest study of comprehensive BRCA testing among Brazilians to date, and the first to analyze clinical criteria for genetic testing. Several criteria that are not included in the NCCN achieved a higher predictive value. Identification of the most informative criteria for each population will assist in the development of a rational approach to genetic testing, and will enable the prioritization of high-risk individuals as a first step towards offering testing in low-income countries.
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- 2017
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20. Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase
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Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, and Ida Vanessa D Schwartz
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Fenilcetonúrias ,fenilalanina hidroxilase ,biopterina ,Pediatrics ,RJ1-570 - Abstract
OBJETIVO: Identificar indivíduos responsivos à tetrahibrobiopterina (BH4) em uma amostra de pacientes brasileiros com hiperfenilalaninemia por deficiência de fenilalanina-hidroxilase (HPA-PAH). MÉTODOS: Estudo intervencional, amostragem por conveniência. Para serem incluídos no estudo, os pacientes deveriam: possuir diagnóstico bioquímico de HPA-PAH; ter idade > 7 anos; estar em tratamento dietético; e apresentar níveis de fenilalanina (Phe) > 6 mg/dL em todas as medidas realizadas no ano anterior à inclusão no estudo. Os níveis de Phe foram determinados por meio de espectrometria de massas in tandem no dia anterior (dia 1) e nos pontos de hora 0, 4 e 8 h (dia 2) e 24 h (dia 3) após ingestão de BH4. Os critérios utilizados para definir responsividade ao BH4 foram: critério 1-redução > 30% de Phe após 8 h da administração de BH4; e critério 2-redução > 30% de Phe após 24 h da administração. RESULTADOS: Dezoito pacientes foram incluídos no estudo (mediana de idade = 14 anos, sexo masculino = 12). Cinco pacientes foram responsivos ao BH4, sendo três (forma clássica: um; forma leve: dois) de acordo com ambos os critérios, e dois (forma clássica: um; forma não definida: um) de acordo com o critério 2. Os níveis de Phe plasmáticos do dia 1 não demonstraram variação nos pontos de hora (p = 0,523). Entretanto, quando comparamos os níveis de Phe nos pontos de hora dos dias 1 e 2, encontramos uma variação significativa (p = 0,006). A análise da associação genótipo-fenótipo confirmou o caráter multifatorial da responsividade ao BH4. CONCLUSÃO: Os nossos achados estão de acordo com a literatura e indicam que um número relevante de pacientes brasileiros com HPA-PAH é responsivo à BH4.
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- 2011
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