MARCO ANTONIO VELOSO DE ALBUQUERQUE
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
7 resultados
Resultados de Busca
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- Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy(2023) ARAUJO, Alexandra Prufer de Queiroz Campos; SAUTE, Jonas Alex Morales; FORTES, Clarisse Pereira Dias Drumond; JR, Marcondes Cavalcante Franca; PEREIRA, Jaqueline Almeida; ALBUQUERQUE, Marco Antonio Veloso de; CARVALHO, Alzira Alves de Siqueira; CAVALCANTI, Eduardo Boiteux Uchoa; COVALESKI, Anna Paula Paranhos Miranda; FAGONDES, Simone Chaves; GURGEL-GIANNETTI, Juliana; GONCALVES, Marcus Vinicius Magno; MARTINEZ, Alberto Rolim Muro; COIMBRA NETO, Antonio Rodrigues; NEVES, Flavio Reis; NUCCI, Anamarli; NUCERA, Ana Paula Cassetta dos Santos; PESSOA, Andre Luis Santos; REBEL, Marcos Ferreira; SANTOS, Flavia Nardes dos; SCOLA, Rosana Herminia; SOBREIRA, Claudia Ferreira da RosaIn the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.
- Clinical aspects of patients with sarcoglycanopathies under steroids therapy(2014) ALBUQUERQUE, Marco A. V.; ABATH-NETO, Osorio; MAXIMINO, Jessica R.; CHADI, Gerson; ZANOTELI, Edmar; REED, Umbertina C.Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available. Objective: To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. Method: Patient files were retrospectively analyzed for steroid use. Results: Stabilization of muscle strength was noted in one patient, a slight improvement in two, and a slight worsening in three. In addition, variable responses of forced vital capacity and cardiac function were observed. Conclusions: No overt clinical improvement was observed in patients with sarcoglycanopathies under steroid therapy. Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies.
- Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders(2022) MORENO, Cristiane Araujo Martins; CAMELO, Clara Gontijo; SAMPAIO, Pedro Henrique Marte de Arruda; FONSECA, Alulin Tacio Quadros Santos Monteiro; ESTEPHAN, Eduardo de Paula; SILVA, Andre Macedo Serafim; PIROLA, Renann Nunes; SILVA, Luiz Henrique Libardi; LIMA, Karlla Danielle Ferreira; ALBUQUERQUE, Marco Antonio Veloso de; CAMELO FILHO, Antonio Edvan; MARQUES, Marcos Vinicius Oliveira; YANAGIURA, Mario Teruo; CAVALCANTE, Wagner Cid Palmeira; MATSUI JUNIOR, Ciro; ISIHI, Lucas Michielon de Augusto; MENDONCA, Rodrigo Holanda; POUZA, Ana Flavia Pincerno; CARVALHO, Mary Souza de; REED, Umbertina Conti; ZANOTELI, EdmarBackground: The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues. We presented a follow-up on 363 patients with hNMDs at a Brazilian tertiary center during the peak of the COVID-19 pandemic. Objective: We aimed to show the frequency and severity of SARS-CoV-2 infection among hNMD patients and to demonstrate the effects of the pandemic on life habits, disease progression and multidisciplinary supportive care status. Methods:Three hundred and sixty-three patients (58% male and 42% female) were followed for three months through three teleconsultations during the peak of the COVID-19 pandemic in Brazil. Results: There were decreases in the numbers of patients who underwent physical, respiratory and speech therapies. For several patients, their appetite (33%) and sleep habits (25%) changed. Physical exercises and therapies were interrupted for most of the patients. They reported new onset/worsening of fatigue (17%), pain (17%), contractions (14%) and scoliosis (7%). Irritability and sleep, weight and appetite changes, and especially diminished appetite and weight loss, were more frequent in the group that reported disease worsening. There was a low COVID-19 contamination rate (0.8%), and all infected patients had a mild presentation. Conclusion: The isolation by itself was protective from a COVID-19 infection perspective. However, this isolation might also trigger a complex scenario with life habit changes that are associated with an unfavorable course for the NMD.
- Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort(2014) PASQUALIN, Livia M. A.; REED, Umbertina C.; COSTA, Thais V. M. M.; QUEDAS, Elisangela; ALBUQUERQUE, Marco A. V.; RESENDE, Maria B. D.; RUTKOWSKI, Anne; CHADI, Gerson; ZANOTELI, EdmarBACKGROUND: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype. METHODS: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene. RESULTS: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study. CONCLUSION: Although lamin A/C related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult.
- Clinical features of collagen VI-related dystrophies: A large Brazilian cohort(2020) ZANOTELI, Edmar; SOARES, Priscilla Souza; SILVA, Andre Macedo Serafim da; CAMELO, Clara Gontijo; FONSECA, Alulin Tacio Quadros Santos Monteiro; ALBUQUERQUE, Marco Antinio Veloso; MORENO, Cristiane Araujo Martins; ABATH NETO, Osorio Lopes; NOVO FILHO, Gil Monteiro; KULIKOWSKI, Leslie Domenici; REED, Umbertina ContiObjectives: Collagen VI-related dystrophies (COL6-RDs) have a broad clinical spectrum and are caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. Despite the clinical variability, two phenotypes are classically recognized: Bethlem myopathy (BM, milder form) and Ullrich congenital muscular dystrophy (UCMD, more severe form), with many patients presenting an intermediate phenotype. In this work, we present clinical and genetic data from 28 patients (27 families), aged 6-38 years (mean of 16.96 years), with COL6-RDs. Patients and methods: Clinical, muscle histology and genetic data are presented. COL6A1, COL6A2 and COL6A3 genes were analyzed by next-generation sequencing (NGS). Results: Homozygous or heterozygous variants were found in COL6A1 (12 families), COL6A2 (12 families) and COL6A3 (3 families). Patients with the severe UCMD phenotype (three cases) had a homogeneous clinical picture characterized by neonatal onset of manifestations, no gait acquisition and a stable course, but with severe respiratory involvement. Most of the patients with the mild UCMD phenotype had neonatal onset of manifestations (88.8 %), delayed motor development (66.6 %), slowly progressive course, pulmonary involvement (55.5 %) and loss of the walking capacity before the age of 10 (66.6 %). In the intermediate group (nine patients), some children had neonatal onset of manifestations (44.5 %) and delayed motor development (88.9 %); but all of them achieved the ability to walk and were still ambulatory. Some patients that had the BM phenotype presented neonatal manifestations (57.1 %); however, all of them had normal motor development and normal pulmonary function. Only one patient from the group of BM lost the walking capacity during the evolution of the disease. Other frequent findings observed in all groups were joint retractions, spinal deformities, distal hyperextensibility, congenital hip dislocation and keloid formation. Conclusion: COL6-RDs present variable clinical manifestations, but common findings are helpful for the clinical suspicion. NGS is a valuable approach for diagnosis, providing useful information for the genetic counseling of families.
- Limb-girdle muscular dystrophy type 2A in Brazilian children(2015) ALBUQUERQUE, Marco Antonio Veloso de; NETO, Osorio Abath; SILVA, Francisco Marcos Alencar da; ZANOTELI, Edmar; REED, Umbertina ContiCalpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective: To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them. Method: We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene. Results: All patients were female (three to 12 years). The mean of age of disease onset was 9 years. All of them showed progressive weakness with predominance in lower limbs. Other findings were scapular winging, joint contractures and calf hypertrophy. One female had a more severe phenotype than her dizygotic twin sister that was confirmed by muscle MRI. Muscle biopsies showed a dystrophic pattern in all patients. Conclusion: In this cohort of children with LGMD2A, the clinical aspects were similar to adults with the same disorder.
- Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy(2023) ARAUJO, Alexandra Prufer de Queiroz Campos; SAUTE, Jonas Alex Morales; FORTES, Clarisse Pereira Dias Drumond; JR, Marcondes Cavalcante Franca; PEREIRA, Jaqueline Almeida; ALBUQUERQUE, Marco Antonio Veloso de; CARVALHO, Alzira Alves de Siqueira; CAVALCANTI, Eduardo Boiteux Uchoa; COVALESKI, Anna Paula Paranhos Miranda; FAGONDES, Simone Chaves; GURGEL-GIANNETTI, Juliana; GONCALVES, Marcus Vinicius Magno; MARTINEZ, Alberto Rolim Muro; NEVES, Flavio Reis; NUCCI, Anamarli; NUCERA, Ana Paula Cassetta dos Santos; PESSOA, Andre Luis Santos; REBEL, Marcos Ferreira; SANTOS, Flavia Nardes dos; SCOLA, Rosana Herminia; SOBREIRA, Claudia Ferreira da RosaIn the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.