Rafael de Paiva Luciano

Genetics, Molecular Biology, Biotechnology

10.12

Publications

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    ABSTRACT: Core myopathies are a clinically and genetically heterogeneous group of congenital myopathies with the common defined histopathological feature of focally reduced oxidative activity on muscle biopsy. It has a low incidence, however, recent articles show broad clinical spectrum, suggesting that the real incidence should be considerably larger than previously described. Due to the important association between scoliosis and paravertebral muscle imbalance, numerous authors study, by biopsy of the spinal rotator muscles, potential changes that may elucidate the etiology of adolescent idiopathic scoliosis. Case presentation Two patients have been followed at Spine Group of Department of Orthopedics at Federal University of São Paulo, with an initial diagnosis of idiopathic scoliosis. Both patients had clinical and radiological findings compatible with it. The patients authorized, through the Term of Consent, intraoperative biopsy of muscle multifidus from the apex of the thoracic curve on concave and convex sides. After muscle biopsy was performed a histopathological analysis. As regard to the histopathological features: in both patients were identified, the presence of core structures in extensive areas with reduced oxidative activity running along the muscle fiber. All patients with ‘idiopathic’ scoliosis deserve a careful neurological evaluation, even if they have minimal muscle symptoms in the extremities. The frequent occurrence of scoliosis in patients with CORE Myopathies, supports the thesis that the change in the paravertebral muscle fiber must be the underlying pathogenic factor in scoliosis and may help us understand the onset and progression of curves in patients previously diagnosed with idiopathic scoliosis.
    BMC Musculoskeletal Disorders 08/2015; 16(1):179. DOI:10.1186/s12891-015-0629-8 · 1.90 Impact Factor
  • Global Spine Journal 05/2015; 05(S 01). DOI:10.1055/s-0035-1554350
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    ABSTRACT: Morphological, biochemical, and histopathological alterations in the paraspinal skeletal muscle of patients with adolescent idiopathic scoliosis (AIS) have been extensively reported. We evaluated rotator muscle fibers from the apex vertebra of AIS patients through histological and immunohistochemical analysis.A population of 21 female AIS patients who underwent corrective surgery between 2010 and 2013 had biopsies taken from the paraspinal muscle in the convex and concave sides of the thoracic curve apical vertebra. Serial sections were stained following routine protocols for hematoxylin and eosin (HE), Sudan red, Gomori trichrome, NADH, ATPase, and cytochrome oxidase. We assessed muscular atrophy and hypertrophy, fatty proliferation, endomysial and perimysial fibrosis, the presence of hyaline fibers, mitochondrial proliferation, muscular necrosis, nuclear centralization, and inflammation. Two independent professionals evaluated the slices.The thoracic curves had an average Cobb angle of 68 degree. Comparative analysis of the concave and convex sides was performed with McNemar test at a significance level of 5%. Results showed significant differences in both endomysial and perimysial fibrosis and fatty involution between the two sides of the apex vertebra.Paraspinal muscles in the concave side of the scoliosis apex had significantly more fibrosis and fatty involution. However, both sides showed signs of myopathy, muscular atrophy due to necrosis, presence of hyaline fibers, and mitochondrial proliferation.
    Medicine 02/2015; 94(8):e598. DOI:10.1097/MD.0000000000000598 · 4.87 Impact Factor
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    Scoliosis 12/2014; 9(Suppl 1):O12-O12. DOI:10.1186/1748-7161-9-S1-O12 · 1.31 Impact Factor
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    ABSTRACT: : The I/D polymorphism of angiotensin-converting enzyme (ACE) and R577X of the α-actinin-3 (ACTN3) is related to changes in skeletal muscle function. The aim of this study was to evaluate the distribution of these polymorphisms in a family with multiple members with adolescent idiopathic scoliosis (AIS). : Evaluated 25 subjects from a family with multiple members with AIS, by collecting 10mL of blood for DNA isolation. The genotyping of the I/D polymorphism of the ACE gene and the R577X of the ACTN3 gene was performed using two specific primers to classify individuals as homozygous or heterozygous. : Regarding the ACE polymorphism it was found that 19 (76%) subjects were DD and 6 (24%) ID. The prevalence of the D allele was 88% and the I allele was 12%. Regarding the ACTN3 polymorphism there were 6 subjects RR (24%), 11 RX (44%) and 8 XX (32%). The prevalence of the R allele was 23 (46%) and the X allele was 27 (54%). : There was a difference between the distribution of the polymorphism of ACE and ACTN3 in the family studied. When assessing the ACE polymorphism a higher prevalence of the D allele was observed as compared with the I allele. Level of Evidence III, Cross-sectional, Clinical Trial.
    Acta Ortopédica Brasileira 05/2013; 21(3):170-4. DOI:10.1590/S1413-78522013000300009 · 0.16 Impact Factor
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    ABSTRACT: OBJECTIVE: to evaluate the variation of serum albumin concentration in surgery of the spine and its relation to clinical effects in the postoperative. METHODS: prospective observational study on the values of serum albumin of 55 patients undergoing spine surgery.Blood samples were collected one day before and 24 hours after the procedure. The paired t test was performed to evaluate the change parameters albumin, hemoglobin and hematocrit. The presence of association between the degree of variation in levels of albumin (<1 g/dL or >1 g/dL) and the variables of interest: complications, transfusions, procedures performed, patients' age and sex and diagnosis were assessed by χ2 test or the χ2 likelihood ratio when appropriate. RESULTS: the average reduction of this protein was of 0.58 g/dL, ranging from 0 to 1.8 g/dL. Of the patients, 78.2% showed albumin values in the postoperative period below the normal range. Only two patients presented with complications during the 30 days of follow-up. The group with the correction of deformities showed 100% of patients with variation of >1 g/dL. CONCLUSION: there was an influence of the surgical trauma in reducing serum albumin, on average, 0.58 g/dL in surgery of the spine. It was not possible to associate this decrease to complications in the postoperative period after 30 days of follow-up of these patients.
    Coluna/ Columna 12/2010; 9(4):407-412. DOI:10.1590/S1808-18512010000400011
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    ABSTRACT: OBJECTIVE: to correlate the changes found in the lumbar magnetic resonance imaging according to Modic and Pfirrmann classifications. METHODS: lumbar spine resonances of 54 outpatients were selected (23 men and 31 women), who were already under investigation because of their comorbidity. According to their degree of Pfirrmann classification, 264 intervertebral discs (L1 to S1) were classified. The presence of signal abnormalities of the vertebral body was recorded as Modic classification. The χ2 mwas applied, adopting significance levels below 0.05 (a=5%). RESULTS: The mean age studied was of 48.4 years (26-77 years). A higher prevalence of Pfirrmann type IV (31.1%) was observed. In 88.3% of the sample, Modic was absent, and also Modic 3; 60% of Modic 2 was related to Pfirrmann type V, and 36.4% of Modic 1 was equally distributed among Pfirrmann type IV and V. Statistically significant association between Modic changes and Pfirrmann (p<0.001) was found. CONCLUSION: there was a clear association between the classifications studied, comparing the stages of Pfirrmann (IV and V) with Modic type 1 and 2.
    Coluna/ Columna 10/2010; 9(4):401-406. DOI:10.1590/S1808-18512010000400010
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