The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was establishe... more The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representati...
Background Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutati... more Background Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. Objective To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases. Case report Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly. Conclusion This report suggest that...
Introduction: Craniosynostosis is caused by premature fusion of one or more cranial sutures, lead... more Introduction: Craniosynostosis is caused by premature fusion of one or more cranial sutures, leading to deformity of the skull. Syndromic forms occur when craniosynostosis is associated with additional dysmorphological features. Early suture fusion can be caused by environmental and genetic factors. In this study, it is intended to recognize the clinical diagnosis and phenotypic characteristics of craniosynostosis in patients attending Medical Genetics outpatient clinics of Hospital de Clínicas de Porto Alegre from 2006 to 2016. The research protocol included anamnesis, dysmorphological examination, review of medical records and investigations carried out. Results: Between 2006 and 2016, 133 individuals with craniosynostosis were evaluated, and 121 met inclusion criteria for this study. The mean age at diagnosis of craniosynostosis was 38.4 months. Metopic suture was the most commonly involved. There was a higher proportion of syndromic cases (69.4%). In 25 of these patients, Apert,...
Introducao: Os defeitos congenitos sao alteracoes estruturais ou funcionais que acontecem durante... more Introducao: Os defeitos congenitos sao alteracoes estruturais ou funcionais que acontecem durante a vida intra-uterina. O cirurgiao-dentista deve reconhecer os defeitos craniofaciais para complementar a caracterizacao fenotipica e maneja-los junto a uma equipe multiprofissional. A presente revisao tem como objetivo auxiliar o cirurgiao-dentista para o diagnostico desses achados e apresentar quadros sindromicos tipicamente associados a malformacoes craniofaciais. Revisao de Literatura: Manifestacoes craniofaciais de defeitos congenitos sao condicoes que devem ser reconhecidas pelos cirurgioes-dentistas, pois frequentemente estao presentes em sua pratica diaria, podendo ser este profissional o primeiro a identificar tais achados. Os principais quadros sindromicos tipicamente associados a micrognatia, fendas orais e displasias esqueleticas com manifestacao craniofacial sao apresentados, assinalando suas caracteristicas clinicas e geneticas. Discussao: O cirurgiao-dentista deve realizar...
Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglyce... more Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving euglycemia, its impact on the quality of life of patients should be considered. In vitro analyses suggest a longer release of glucose when using sweet manioc starch (SMS). Methods We compared the efficacy and safety of the administration of SMS and UCCS during a short-fasting challenge in patients with GSD Ia in a randomized, triple-blind, phase I/II, cross-over study. GSD Ia patients aged ≥ 16 years and treated with UCCS were enrolled. Participants were hospitalized for two consecutive nights, receiving UCCS or SMS in each night. After the administration of the starches, glucose, lactate and insulin levels were measured in 1-h interval throughout the hospitalization period. The procedures were interrupted after 10 h of fasting or in a hypoglycem...
The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was establishe... more The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representati...
Background Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutati... more Background Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. Objective To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases. Case report Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly. Conclusion This report suggest that...
Introduction: Craniosynostosis is caused by premature fusion of one or more cranial sutures, lead... more Introduction: Craniosynostosis is caused by premature fusion of one or more cranial sutures, leading to deformity of the skull. Syndromic forms occur when craniosynostosis is associated with additional dysmorphological features. Early suture fusion can be caused by environmental and genetic factors. In this study, it is intended to recognize the clinical diagnosis and phenotypic characteristics of craniosynostosis in patients attending Medical Genetics outpatient clinics of Hospital de Clínicas de Porto Alegre from 2006 to 2016. The research protocol included anamnesis, dysmorphological examination, review of medical records and investigations carried out. Results: Between 2006 and 2016, 133 individuals with craniosynostosis were evaluated, and 121 met inclusion criteria for this study. The mean age at diagnosis of craniosynostosis was 38.4 months. Metopic suture was the most commonly involved. There was a higher proportion of syndromic cases (69.4%). In 25 of these patients, Apert,...
Introducao: Os defeitos congenitos sao alteracoes estruturais ou funcionais que acontecem durante... more Introducao: Os defeitos congenitos sao alteracoes estruturais ou funcionais que acontecem durante a vida intra-uterina. O cirurgiao-dentista deve reconhecer os defeitos craniofaciais para complementar a caracterizacao fenotipica e maneja-los junto a uma equipe multiprofissional. A presente revisao tem como objetivo auxiliar o cirurgiao-dentista para o diagnostico desses achados e apresentar quadros sindromicos tipicamente associados a malformacoes craniofaciais. Revisao de Literatura: Manifestacoes craniofaciais de defeitos congenitos sao condicoes que devem ser reconhecidas pelos cirurgioes-dentistas, pois frequentemente estao presentes em sua pratica diaria, podendo ser este profissional o primeiro a identificar tais achados. Os principais quadros sindromicos tipicamente associados a micrognatia, fendas orais e displasias esqueleticas com manifestacao craniofacial sao apresentados, assinalando suas caracteristicas clinicas e geneticas. Discussao: O cirurgiao-dentista deve realizar...
Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglyce... more Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving euglycemia, its impact on the quality of life of patients should be considered. In vitro analyses suggest a longer release of glucose when using sweet manioc starch (SMS). Methods We compared the efficacy and safety of the administration of SMS and UCCS during a short-fasting challenge in patients with GSD Ia in a randomized, triple-blind, phase I/II, cross-over study. GSD Ia patients aged ≥ 16 years and treated with UCCS were enrolled. Participants were hospitalized for two consecutive nights, receiving UCCS or SMS in each night. After the administration of the starches, glucose, lactate and insulin levels were measured in 1-h interval throughout the hospitalization period. The procedures were interrupted after 10 h of fasting or in a hypoglycem...
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