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1.
Am J Med Genet C Semin Med Genet ; 187(3): 349-356, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33960103

RESUMO

Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity and a complex genotype-phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed with MPS II from 1982 to 2020. We genotyped 280 of these patients (55.9%), which were assigned to 206 different families. Point mutations were present in 70% of our patients, being missense variants the most frequent. We correlated the IDS pathogenic variants identified with the phenotype (neuronophatic or non-neuronopathic). Except for two half-brothers, there was no discordance in the genotype-phenotype correlation among family members, nor among MPS II patients from different families with the same single base-pair substitution variant. Mothers were carriers in 82.0% of the cases. This comprehensive study of the molecular profile of the MPS II cases in Brazil sheds light on the genotype-phenotype correlation and helps the better understanding of the disease and the prediction of its clinical course, enabling the provision of a more refined genetic counseling to the affected families.


Assuntos
Mucopolissacaridose II , Brasil , Genótipo , Humanos , Masculino , Mucopolissacaridose II/genética , Mutação , Fenótipo
2.
Case Rep Genet ; 2020: 5957415, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32082653

RESUMO

Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed neuropsychomotor development and language, mild hypotonia, low weight gain, and cognitive deficit. Chromosomal microarray analysis (CMA) enabled us to restrict a chromosomal segment and thus integrate clinical and molecular data with systems biology. With this approach, we were able to identify candidate genes that may help to explain the consequences of deletions in 20q13.33. In our analysis, we observed five hubs (ARFGAP1, HELZ2, COL9A3, PTK6, and EEF1A2), seven bottlenecks (CHRNA4, ARFRP1, GID8, COL9A3, PTK6, ZBTB46, and SRMS), and two H-B nodes (PTK6 and COL9A3). The candidate genes may play an important role in the developmental delay and seizures observed in r20 patients. Gene ontology included microtubule-based movement, nucleosome assembly, DNA repair, and cholinergic synaptic transmission. Defects in these bioprocesses are associated with the development of neurological diseases, intellectual disability, neuropathies, and seizures. Therefore, in this study, we can explore molecular cytogenetic data, identify proteins through network analysis of protein-protein interactions, and identify new candidate genes associated with the main clinical findings in patients with 20q13.33 deletions.

3.
Rev Paul Pediatr ; 38: e2018351, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32074228

RESUMO

OBJECTIVE: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. METHODS: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the "salting-out" method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. RESULTS: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight alleles (18.4%) and splicing in four alleles (10.5%). The model proposed by Guldberg to determine a genotype/phenotype correlation was applied to four classical PKU patients with two identified mutations. In three of them, the predicted moderate/moderate or moderate PKU phenotype did not coincide with the actual diagnosis. The prediction coincided with the diagnosis of one classic PKU patient. The estimated incidence of PKU for Mato Grosso, Brazil, was 1:33,342 live births from 2003 to 2015. CONCLUSION: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.


Assuntos
Processamento Alternativo , Mutação de Sentido Incorreto , Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Alelos , Brasil , Criança , Pré-Escolar , Estudos Transversais , Análise Mutacional de DNA/métodos , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal , Fenótipo , Polimorfismo de Fragmento de Restrição
4.
J. inborn errors metab. screen ; 8: e20200003, 2020. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1135001

RESUMO

Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.

5.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 38: e2018351, 2020. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1092150

RESUMO

ABSTRACT Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. Methods: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the "salting-out" method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. Results: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight alleles (18.4%) and splicing in four alleles (10.5%). The model proposed by Guldberg to determine a genotype/phenotype correlation was applied to four classical PKU patients with two identified mutations. In three of them, the predicted moderate/moderate or moderate PKU phenotype did not coincide with the actual diagnosis. The prediction coincided with the diagnosis of one classic PKU patient. The estimated incidence of PKU for Mato Grosso, Brazil, was 1:33,342 live births from 2003 to 2015. Conclusion: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.


RESUMO Objetivo: Identificar mutações da fenilalanina hidroxilase (PAH) em pacientes com PKU (fenilcetonúria) do Serviço de Triagem Neonatal em Mato Grosso. Métodos: Estudo de corte transversal. Amostra composta de 19 pacientes com PKU através do exame de triagem neonatal biológica. Análise molecular: a) extração de DNA pela metodologia "salting out". B) detecção de mutações IVS10nt-11G>A, V388M, R261Q, R261X, R252W e R408W pela técnica de polimorfismo de comprimento de fragmento de restrição (RFLP). Resultados: Dois alelos foram identificados em quatro pacientes (21,1%), um alelo em cinco pacientes (26,2%) e nenhum nos dez pacientes restantes (52,6%). Um total de 13/38 alelos foram identificados, correspondendo a 34,2% dos alelos PAH presentes. A variante mais prevalente foi a V388M (13,2% dos alelos), seguida de R261Q (10,1%) e IVS10nt-11G>A (7,9%). Três variantes (R261X, R252W e R408W) não foram encontradas. Os tipos de mutações mais frequentes foram: troca de sentido em oito alelos (18,4%) e emenda em quatro alelos (10,5%). O modelo proposto por Guldberg para determinar uma correlação genótipo/fenótipo foi aplicado para quatro pacientes clássicos de PKU, com duas mutações identificadas. Em três, o fenótipo previsto de PKU moderada/moderada ou moderada não coincidiu com o diagnóstico real. A predição coincidiu com o diagnóstico de um paciente PKU clássico. A incidência de PKU estimada para Mato Grosso, Brasil foi de 1:33.342 nascidos vivos para o período de 2003 a 2015. Conclusões: Foram encontradas apenas as mutações IVS10nt-11G>A, V388M, R261Q nas amostras analisadas. A correlação genótipo/fenótipo ocorreu em quatro (5,3%) pacientes.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Processamento Alternativo , Mutação de Sentido Incorreto , Fenótipo , Polimorfismo de Fragmento de Restrição , Brasil , Análise Mutacional de DNA/métodos , Estudos Transversais , Triagem Neonatal , Alelos , Genótipo
6.
J Pediatr Genet ; 8(4): 198-204, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31687257

RESUMO

Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.

7.
Biomed Res Int ; 2018: 5436187, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29721507

RESUMO

Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated. We characterized 12 terminal deletions, one interstitial deletion, two ring chromosomes, and one classical translocation 4;8. CMA allowed delineation of the deletions, which ranged from 3.7 to 25.6 Mb with breakpoints from 4p16.3 to 4p15.33. Furthermore, the smallest region of overlapping (SRO) encompassed seven genes in a terminal region of 330 kb in the 4p16.3 region, suggesting a region of susceptibility to convulsions and microcephaly. Therefore, molecular interaction networks and topological analysis were performed to understand these WHS-related symptoms. Our results suggest that specific cell signaling pathways including dopamine receptor, NAD+ nucleosidase activity, and fibroblast growth factor-activated receptor activity are associated with the diverse pathological WHS phenotypes and their symptoms. Additionally, we identified 29 hub-bottlenecks (H-B) nodes with a major role in WHS.


Assuntos
Deleção Cromossômica , Coloração Cromossômica , Cromossomos Humanos Par 4/genética , Redes Reguladoras de Genes , Síndrome de Wolf-Hirschhorn/genética , Feminino , Humanos , Masculino , Estudos Retrospectivos
8.
Artigo em Inglês, Espanhol, Português | LILACS | ID: biblio-876218

RESUMO

Este ensaio teórico reflete sobre a qualificação e o provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no SUS. Para isso, apresentamos a Política e suas diretrizes, e situamos a discussão em torno de duas estratégias integradas: o provimento e a fixação de médicos geneticistas; e a capacitação de profissionais da Atenção Primária à Saúde em relação às doenças genéticas e aos defeitos congênitos. Finalmente, considerando as Diretrizes Curriculares Nacionais do Curso de Graduação em Medicina, apresentamos uma proposta de perfil de competência mínimo em Genética, elaborada para instrumentalizar os cursos de graduação da área da Saúde, em particular os cursos de Medicina. Assim, oferecemos um referencial teórico para apoiar o delineamento de programas de educação e formação em Saúde, contribuindo para inclusão do cuidado em Genética no SUS.(AU)


This theoretical essay reflects on the qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the SUS. To carry out this analysis, we introduce the Policy and its guidelines, with a focus on discussion of two integrated strategies: the provision and settlement of geneticist physicians; and training of primary care professionals with regard to genetic diseases and congenital defects. Finally, in view of the Brazilian National Curriculum Guidelines for undergraduate medical courses, we suggest a profile of minimum competencies required in Genetics, developed in order to provide resources to undergraduate courses in Health, in particular, medical courses. We provide a theoretical reference to support the outline of programs of education and training in Health, contributing to including Genetics in the SUS.(AU)


Este ensayo teórico reflexiona sobre la calificación y la provisión de médicos en el contexto de la Política Nacional de Atención Integral a las Personas con Enfermedades Raras en el SUS. Para ello, presentamos la Política y sus directrices y situamos la discusión alrededor de dos estrategias integradas: la provisión y la fijación en el área de médicos genetistas y la capacitación de profesionales de Atención Primaria a la Salud en relación a las enfermedades genéticas y a los defectos congénitos. Finalmente, considerando las Directrices Curriculares Nacionales del Curso de Graduación en Medicina, presentamos una propuesta de perfil de competencia mínimo en Genética, elaborada para instrumentalizar los cursos de graduación del área de la Salud, en particular los cursos de Medicina. De esta forma, ofrecemos una referencia teórica para apoyar el delineamiento de programas de educación y formación en Salud, contribuyendo para la inclusión del cuidado en Genética en el SUS.(AU)


Assuntos
Competência Clínica , Genética Médica , Educação em Saúde , Política Pública , Doenças Raras , Sistema Único de Saúde , Brasil , Distribuição de Médicos
9.
J Assist Reprod Genet ; 32(10): 1531-5, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26350109

RESUMO

PURPOSE: The glutathione family (GST) genes appear to play a role in the genesis of endometriosis. This case-control study aimed to compare the frequencies of GSTM1 and GSTT1 polymorphisms in women with endometriosis and women without endometriosis. METHODS: Polymerase chain reaction was performed to analyze the GSTM1 and GSTT1 genotypes among women with surgically and histologically confirmed endometriosis (case group n = 121) and in women without evidence of endometriosis confirmed by laparoscopy for investigation the infertility or for laparoscopic tubal sterilization (control group n = 97). RESULT(S): No differences in the frequencies of GSTM1 polymorphism (null genotype) were observed between the cases and controls: odds ratio (OR) = 1.13; 95 % CI 0.656-1.93 (p = 0.659). The GSTT1 polymorphism (null genotype) was more prevalent in the endometriosis group than in the control group (OR = 0.53; 95 % CI 0.94-0.29 (p = 0.039). No relationship between menstrual cycle interval and GSTM1 null genotype frequency was observed in either cases or controls (p = 0.370 and p = 0.664, respectively). In addition, no relationship between menstrual cycle interval and GSTT1 null genotype was observed in cases (p = 0.797) or controls (p = 0.052). CONCLUSIONS: GSTM1 null genotype frequency was similar between cases and controls. The GSTT1 null genotype was more frequent in the control group.


Assuntos
Endometriose/genética , Glutationa Transferase/genética , Polimorfismo Genético , Adulto , Brasil , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Ciclo Menstrual/genética
10.
Int J Rheumatol ; 2015: 730285, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25649631

RESUMO

Background. Systemic lupus erythematosus (SLE) is a chronic inflammatory, multisystem, and autoimmune disease. Objective. The aim of this study was to describe the prevalence of hyposalivation in SLE patients and evaluate factors associated. Methods. This is a cross-sectional study developed at the Cuiaba University General Hospital (UNIC-HGU), Mato Grosso, Brazil. The study population consisted of female SLE patients treated at this hospital from 06/2010 to 12/2012. Unstimulated salivary flow rates (SFRs) were measured. Descriptive and inferential analyses were performed in all cases using a significance level P < 0.05. Results. The results showed that 79% of patients with systemic lupus erythematosus suffered from hyposalivation and that the disease activity and age in years were the factors that resulted in statistically significant differences. Conclusion. The activity of the disease, age >27 years, and the drugs used were factors associated with hyposalivation, resulting in a statistically significant decrease in saliva production.

11.
Artigo em Inglês | MEDLINE | ID: mdl-25210487

RESUMO

OBJECTIVE: To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil. METHODS: This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. Microdeletions were investigated by polymerase chain reaction (PCR). RESULTS: With the use of cytogenetic analysis, five patients (5.3%) had abnormal karyotype, one azoospermic patient (1.1%) had karyotype 46,XY,t(7;1) (qter-p35), one (1.1%) with mild oligozoospermia had karyotype 46,XY,delY(q), and two other azoospermic patients had karyotype 47,XXY, consistent with Klinefelter syndrome (KS). One of them (1.1%) with severe oligozoospermia had karyotype 46,XY,8p+. Microdeletion on Y chromosome was found in the azoospermia factor c (AZFc) region in only one azoospermic patient (1.1%). CONCLUSIONS: The prevalence of genetic abnormalities in oligo/azoospermic Brazilian men from infertile couple was 5.3%, and microdeletion on Y chromosome was not a common finding in this population (1.1%).

12.
PLoS One ; 7(3): e34195, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22479560

RESUMO

UNLABELLED: In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics. METHODS: X- ALD patients from Brazil, Argentina and Uruguay were invited to participate in molecular studies to determine their genetic status, characterize the mutations and improve the genetic counseling of their families. All samples were screened by SSCP analysis of PCR fragments, followed by automated DNA sequencing to establish the specific mutation in each family. Age at onset and at death, male phenotypes, genetic status of women, and the effect of family and of latitude of origin were also studied. RESULTS: We identified thirty-six different mutations (twelve novel). This population had an important allelic heterogeneity, as only p.Arg518Gln was repeatedly found (three families). Four cases carried de novo mutations. Intra-familiar phenotype variability was observed in all families. Out of 87 affected males identified, 65% had the cerebral phenotype (CALD). The mean (95% CI) ages at onset and at death of the CALD were 10.9 (9.1-12.7) and 24.7 (19.8-29.6) years. No association was found between phenotypic manifestations and latitude of origin. One index-case was a girl with CALD who carried an ABCD1 mutation, and had completely skewed X inactivation. CONCLUSIONS: This study extends the spectrum of mutations in X-ALD, confirms the high rates of de novo mutations and the absence of common mutations, and suggests a possible high frequency of cerebral forms in our population.


Assuntos
Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/mortalidade , Adolescente , Adulto , Idade de Início , Alelos , Argentina , Encéfalo/patologia , Brasil , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Reação em Cadeia da Polimerase/métodos , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNA , Uruguai
13.
Genet Test Mol Biomarkers ; 16(5): 396-400, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22283972

RESUMO

AIMS: To determine the frequency of C677T and A1298C polymorphisms of the MTHFR gene and correlate them with homocysteine serum levels in patients with Turner syndrome (TS) and controls. METHODS: This case-control study included 78 women with TS and a control group of 372 healthy individuals without personal or family history of cardiovascular disease and cancer. C677T (rs1801133) and A1298C (rs1801131) polymorphisms were detected by polymerase chain reaction-restriction fragment-length polymorphism and the TaqMan system, respectively. Homocysteine serum levels were determined by high-performance liquid chromatography. The results were analyzed statistically, and p<0.05 was considered to represent a significant difference. RESULTS: The homocysteine levels change was 13.9+3.3 nM in patients with TS and 8.8+3.2 nM in the control group. No significant difference between groups was found (p=0.348). Single-marker analysis revealed no association between MTHFR C677T polymorphism and TS when genotype (p=0.063) or allelic (p=0.277) distribution was considered. Regarding MTHFR A1298C polymorphism, a statistical difference was found between the TS group and the control group, for both genotype (p<0.0001) and allele (p<0.0001) distribution. Haplotype analysis of 2 MTHFR polymorphisms identified 2 haplotypes-CC and TC-associated with TS (p<0.001 and p=0.0165, respectively). However, homocysteine levels were not higher in patients with haplotype risk. CONCLUSION: The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients. Further studies are needed to investigate the possible genetic interaction with homocysteine levels in TS.


Assuntos
Homocisteína/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Síndrome de Turner/genética , Adolescente , Adulto , Brasil , Feminino , Frequência do Gene , Humanos , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Síndrome de Turner/sangue , Adulto Jovem
14.
Rev Bras Epidemiol ; 14(2): 347-56, 2011 Jun.
Artigo em Português | MEDLINE | ID: mdl-21655700

RESUMO

OBJECTIVE: To estimate the prevalence of idiopathic scoliosis and its associated factors in schoolchildren of elementary public schools. METHODS: Cross sectional two-phase study, the first of which in classrooms. Those considered Adams positive were invited for the second phase, which consisted of an interview for associated factors and a scoliosis exam. Those with a confirmed test in the second phase were submitted to x-rays for scoliosis and other factors. To estimate the prevalence, curves with > 5 and > 10 Cobb degrees were used as cut off. RESULTS: In the first phase, 382 students were counted as Adams positive; of these 210 came for the second phase, 142 of which with a confirmed test. Using a chi-square test to compare the variables age, sex and color of the lost group (n = 172) to the group that accepted the invitation (n = 210), no statistical significance was observed, allowing statistical inference for the sample studied (n = 3,105). The estimated prevalence of scoliosis in the sample studied was 5.3% for curves > 5 Cobb degrees and 2.2% for curves > 10 Cobb degrees. Thoracic curves were observed in 44.8%, Risser grade 1 in 97.4%, and vertebral rotation degree I in 3.2%. Statistical significance was observed (p < 0.05) for the association of scoliosis with: physical activity, hump, and flexibility of the spine to the right. CONCLUSION: The estimated prevalence of scoliosis in our study is comparable to those from other studies. However, its diagnosis and follow-up are important to health promotion and to the prevention of more severe disorders.


Assuntos
Escoliose/epidemiologia , Brasil , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência
15.
Rev. bras. epidemiol ; 14(2): 347-356, jun. 2011. ilus, tab
Artigo em Português | CidSaúde - Cidades saudáveis | ID: cid-64379

RESUMO

OBJETIVO: Estimar a prevalência de escoliose idiopática e variáveis associadas em escolares do ensino público fundamental. MÉTODOS: Estudo de corte transversal em duas fases, sendo a primeira nas salas de aula, com teste de Adams. Os que apresentaram Adams positivo foram convidados para a segunda fase, que constou de entrevista para fatores associados e exames para escoliose. Aqueles com teste confirmado nessa fase foram radiografados para escoliose e outras alterações. Para cálculo de prevalência utilizou-se, como ponto de corte, curvas > 5 e > 10 graus Cobb. RESULTADOS: Na primeira fase contaram-se 382 escolares com teste Adams positivo; destes, 210 compareceram para a segunda fase, sendo 142 com o teste confirmado. Comparando-se as variáveis idade, sexo e cor da pele, pelo teste de Qui-quadrado, do grupo das perdas (n = 172) com aqueles que atenderam ao convite (n = 210), não observamos diferenças com significância estatística, permitindo a validade para a amostra estudada (n = 3.105). A prevalência estimada de escoliose foi de 5,3 por cento para curvas > 5 graus Cobb, e de 2,2 por cento para curvas > 10 graus Cobb. Curva torácica foi observada em 44,8 por cento, Risser grau 1 em 97,4 por cento e 13,2 por cento de rotação vertebral grau I. Observou-se significância estatística (p < 0,05) na associação de escoliose com atividade física. CONCLUSÃO: A prevalência estimada da escoliose, em nosso estudo, é comparável com aquelas descritas na literatura, e o seu diagnóstico e acompanhamento são importantes na promoção da saúde e prevenção de distúrbios mais graves.(AU)


Assuntos
Escoliose/epidemiologia , Adolescente , Criança , Coluna Vertebral/anormalidades , Estudos Transversais
16.
Rev. bras. epidemiol ; 14(2): 347-356, jun. 2011. ilus, tab
Artigo em Português | LILACS | ID: lil-608239

RESUMO

OBJETIVO: Estimar a prevalência de escoliose idiopática e variáveis associadas em escolares do ensino público fundamental. MÉTODOS: Estudo de corte transversal em duas fases, sendo a primeira nas salas de aula, com teste de Adams. Os que apresentaram Adams positivo foram convidados para a segunda fase, que constou de entrevista para fatores associados e exames para escoliose. Aqueles com teste confirmado nessa fase foram radiografados para escoliose e outras alterações. Para cálculo de prevalência utilizou-se, como ponto de corte, curvas > 5 e > 10 graus Cobb. RESULTADOS: Na primeira fase contaram-se 382 escolares com teste Adams positivo; destes, 210 compareceram para a segunda fase, sendo 142 com o teste confirmado. Comparando-se as variáveis idade, sexo e cor da pele, pelo teste de Qui-quadrado, do grupo das perdas (n = 172) com aqueles que atenderam ao convite (n = 210), não observamos diferenças com significância estatística, permitindo a validade para a amostra estudada (n = 3.105). A prevalência estimada de escoliose foi de 5,3 por cento para curvas > 5 graus Cobb, e de 2,2 por cento para curvas > 10 graus Cobb. Curva torácica foi observada em 44,8 por cento, Risser grau 1 em 97,4 por cento e 13,2 por cento de rotação vertebral grau I. Observou-se significância estatística (p < 0,05) na associação de escoliose com atividade física. CONCLUSÃO: A prevalência estimada da escoliose, em nosso estudo, é comparável com aquelas descritas na literatura, e o seu diagnóstico e acompanhamento são importantes na promoção da saúde e prevenção de distúrbios mais graves.


OBJECTIVE: To estimate the prevalence of idiopathic scoliosis and its associated factors in schoolchildren of elementary public schools. METHODS: Cross sectional two-phase study, the first of which in classrooms. Those considered Adams positive were invited for the second phase, which consisted of an interview for associated factors and a scoliosis exam. Those with a confirmed test in the second phase were submitted to x-rays for scoliosis and other factors. To estimate the prevalence, curves with > 5 and > 10 Cobb degrees were used as cut off. RESULTS: In the first phase, 382 students were counted as Adams positive; of these 210 came for the second phase, 142 of which with a confirmed test. Using a chi-square test to compare the variables age, sex and color of the lost group (n = 172) to the group that accepted the invitation (n = 210), no statistical significance was observed, allowing statistical inference for the sample studied (n = 3,105). The estimated prevalence of scoliosis in the sample studied was 5.3 percent for curves > 5 Cobb degrees and 2.2 percent for curves > 10 Cobb degrees. Thoracic curves were observed in 44.8 percent, Risser grade 1 in 97.4 percent, and vertebral rotation degree I in 3.2 percent. Statistical significance was observed (p < 0.05) for the association of scoliosis with: physical activity, hump, and flexibility of the spine to the right. CONCLUSION: The estimated prevalence of scoliosis in our study is comparable to those from other studies. However, its diagnosis and follow-up are important to health promotion and to the prevention of more severe disorders.


Assuntos
Criança , Feminino , Humanos , Masculino , Escoliose/epidemiologia , Brasil , Estudos Transversais , Prevalência
17.
Rev Bras Ginecol Obstet ; 32(8): 381-5, 2010 Aug.
Artigo em Português | MEDLINE | ID: mdl-21180874

RESUMO

PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS). METHODS: Forty-two patients were included. Data were collected using a standardized questionnaire in interviews conducted with the responsible person and, when possible, with the patient. A detailed physical examination was performed. The association between karyotype, stigmata and clinical disorders were examined using the χ2 test. RESULTS: Sixty-four percent of TS patients were 45,X; 26,2% 45,X/46,X;7% 45,X/46Xi(Xq), and 2,3% 45,X/46,X,Del(Xq). Regardless of the karyotype, all patients had short stature. Low hair implantation was more frequent in patients with 45,X (p=0.03). Cardiovascular abnormalities (45%), otitis (43%), thyroid dysfunction (33%) and hypertension (26.6%) were the most frequent clinical disorders, but without correlation with the karyotype. Anthropometric measurements revealed a positive linear correlation of waist and hip circumference with age (r=0.9, p=0.01). Thirty-one patients (74%) were using or had previously used growth hormone (43%), sex steroids (30%), thyroxine (11.9%) or oxandrolone (9.5%). Comparison between gestational age at birth and learning difficulties showed a prevalence ratio of 1.71 (p>0.05). CONCLUSION: Low hair implantation is the most prevalent stigma in patients with a 45,X karyotype and the most common clinical changes were cardiovascular problems, otitis, thyroid dysfunction and hypertension; however, they did not show any correlation with the karyotype.


Assuntos
Análise Citogenética , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Brasil , Feminino , Humanos , Adulto Jovem
18.
Rev. bras. ginecol. obstet ; 32(8): 381-385, ago. 2010. ilus, tab
Artigo em Português | LILACS | ID: lil-569115

RESUMO

OBJETIVO: examinar a associação entre características citogenéticas e alterações clínicas em pacientes com síndrome de Turner (ST). MÉTODOS: Foram incluídas 42 pacientes. Os dados clínicos foram colhidos e registrados em formulário padronizado com entrevista do responsável e, quando possível, com a própria paciente, seguido de exame físico detalhado. A associação entre cariótipo e intercorrências clínicas foram examinadas pelo teste do χ2. RESULTADOS: Das pacientes, 64 por cento tinham cariótipo 45,X; 26,2 por cento 45,X/46,X; 7 por cento 45,X/46Xi(Xq) e 2,3 por cento 45,X/46,X,Del(Xq). Independentemente do cariótipo, 100 por cento das pacientes apresentaram baixa estatura. A implantação baixa dos cabelos foi mais frequente nas pacientes com cariótipo 45,X (p=0,03). Anomalias cardiovasculares (45 por cento), otites (43 por cento), disfunção da tireoide (33 por cento) e hipertensão arterial (26,6 por cento) foram as alterações clínicas mais frequentes e não mostraram correlação com o cariótipo. A avaliação de medidas antropométricas revelou correlação positiva entre a idade e o diâmetro da cintura e quadril (r=0,9; p=0,01). Trinta e uma pacientes (74 por cento) faziam ou tinham feito uso de medicamentos, sendo que hormônio de crescimento (43 por cento), esteroides sexuais (30 por cento), tiroxina (11,9 por cento) e oxandrolona (9,5 por cento) foram os mais utilizados. A comparação da idade da gestação no momento em que ocorreu o parto com dificuldade no aprendizado mostrou razão de prevalência de 1,71 (p>0,05). CONCLUSÃO: a implantação baixa dos cabelos é o estigma mais prevalente nas pacientes com cariótipo 45,X e as alterações clínicas mais comuns são as cardiovasculares, otites, hipertensão arterial e disfunções tireoidianas, porém não apresentam correlação com o cariótipo.


PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS). METHODS: Forty-two patients were included. Data were collected using a standardized questionnaire in interviews conducted with the responsible person and, when possible, with the patient. A detailed physical examination was performed. The association between karyotype, stigmata and clinical disorders were examined using the χ2 test. RESULTS: Sixty-four percent of TS patients were 45,X; 26,2 percent 45,X/46,X;7 percent 45,X/46Xi(Xq), and 2,3 percent 45,X/46,X,Del(Xq). Regardless of the karyotype, all patients had short stature. Low hair implantation was more frequent in patients with 45,X (p=0.03). Cardiovascular abnormalities (45 percent), otitis (43 percent), thyroid dysfunction (33 percent) and hypertension (26.6 percent) were the most frequent clinical disorders, but without correlation with the karyotype. Anthropometric measurements revealed a positive linear correlation of waist and hip circumference with age (r=0.9, p=0.01). Thirty-one patients (74 percent) were using or had previously used growth hormone (43 percent), sex steroids (30 percent), thyroxine (11.9 percent) or oxandrolone (9.5 percent). Comparison between gestational age at birth and learning difficulties showed a prevalence ratio of 1.71 (p>0.05). CONCLUSION: Low hair implantation is the most prevalent stigma in patients with a 45,X karyotype and the most common clinical changes were cardiovascular problems, otitis, thyroid dysfunction and hypertension; however, they did not show any correlation with the karyotype.


Assuntos
Adolescente , Adulto , Feminino , Humanos , Adulto Jovem , Análise Citogenética , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Brasil
19.
Arq Neuropsiquiatr ; 68(2): 194-7, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20464284

RESUMO

UNLABELLED: Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid alpha-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. METHOD: Diagnosis was performed by the clinical presentation of limb-girdle dystrophies and respiratory compromise. Confirmatory diagnoses were conducted by muscle biopsy, GAA activity measurement and by GAA gene genotyping. RESULTS: The findings suggested muscular involvement due to GAA deficiency. GAA genotyping showed they are homozygous for the c.-32-3C>A mutation. CONCLUSION: Herein we reported a family where three out of five siblings were diagnosed with late-onset PD, although it is a rare metabolic disease inherited in an autossomal recessive manner. We emphasize the importance of including this presentation within the differential diagnoses of the limb-girdle dystrophies once enzyme replacement therapy is available.


Assuntos
Doença de Depósito de Glicogênio Tipo II/genética , Homozigoto , Mutação/genética , alfa-Glucosidases/deficiência , alfa-Glucosidases/genética , Adulto , Creatina Quinase/sangue , Eletromiografia , Feminino , Genótipo , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Polissonografia , Irmãos , Espirometria
20.
Arq. neuropsiquiatr ; 68(2): 194-197, Apr. 2010. tab
Artigo em Inglês | LILACS | ID: lil-545914

RESUMO

Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. METHOD: Diagnosis was performed by the clinical presentation of limb-girdle dystrophies and respiratory compromise. Confirmatory diagnoses were conducted by muscle biopsy, GAA activity measurement and by GAA gene genotyping. RESULTS: The findings suggested muscular involvement due to GAA deficiency. GAA genotyping showed they are homozygous for the c.-32-3C>A mutation. CONCLUSION: Herein we reported a family where three out of five siblings were diagnosed with late-onset PD, although it is a rare metabolic disease inherited in an autossomal recessive manner. We emphasize the importance of including this presentation within the differential diagnoses of the limb-girdle dystrophies once enzyme replacement therapy is available.


A doença de Pompe (DP) é uma miopatia originada do acúmulo lisossomal de glicogênio, devido à deficiência da enzima α-glicosidase ácida (GAA), sendo descritas formas de inicio precoce e tardio. Neste estudo analisamos retrospectivamente o perfil clinico e patológico de 3 irmãos portadores de doença de Pompe de inicio tardio. MÉTODO: O diagnóstico foi realizado mediante apresentação clinica de distrofia de cinturas associado a comprometimento respiratório, sendo confirmado por biópsia muscular e análise da atividade e genotipagem da GAA. RESULTADOS: Os exames clínicos e laboratoriais demonstram envolvimento muscular devido à deficiência da GAA, com uma mutação c.-32-3C>A em homozigose. CONCLUSÃO: Relatamos os aspectos clínicos e laboratoriais de 3 irmãos afetados por doença de Pompe de início tardio. Enfatizamos a importância de incluir esta patologia no diagnóstico diferencial das distrofias de cinturas, uma vez que para esta patologia específica existe a possibilidade terapêutica através de reposição enzimática.


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Depósito de Glicogênio Tipo II/genética , Homozigoto , Mutação/genética , alfa-Glucosidases/deficiência , alfa-Glucosidases/genética , Creatina Quinase/sangue , Eletromiografia , Genótipo , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Fenótipo , Polissonografia , Irmãos , Espirometria
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