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1.
Lab Chip ; 18(3): 514-521, 2018 01 30.
Artigo em Inglês | MEDLINE | ID: mdl-29327010

RESUMO

DNA methylation is an epigenetic regulation of gene expression, which has drawn great attention in biomedical research due to its association with various diseases. A robust, inexpensive platform to detect and quantify the methylation status in a specific genomic region is necessary. In this study, an on-chip analytical technique of cytosine methylation with droplets in a microchannel is proposed. Genomic DNA samples are encapsulated into a series of droplets and transported through a detection region, where a stable temperature gradient is created. As the temperature is elevated from 60 °C to 85 °C, the DNA samples denature and the associated fluorescence signals decay, with the relationship being acquired as the melting curve. The droplets serve as discrete reactors for conducting DNA melting curve analysis in the liquid phase, thereby eliminating the need for immobilization of reagents. Due to a high heating rate and greater enhanced thermal stability, this microchip allows larger melting temperature differences for the samples at different percentages of methylated DNA. It has an enhanced discrimination ability and lower volume consumption, compared to the commercial qPCR machine. This chip enables quantification of the methylation levels of the pluripotent stem cell factor Oct-4 in its distal enhancer (DE) region, with a designed probe after bisulfite treatment and asymmetric PCR.


Assuntos
Metilação de DNA/genética , Técnicas Analíticas Microfluídicas/instrumentação , Desnaturação de Ácido Nucleico/genética , Animais , Células Cultivadas , DNA/análise , DNA/química , DNA/genética , Desenho de Equipamento , Feminino , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Técnicas de Sonda Molecular/instrumentação , Sondas Moleculares , Fator 3 de Transcrição de Octâmero/genética , Células-Tronco Pluripotentes/citologia , Sulfitos/química , Temperatura Ambiente
2.
West Indian Med J ; 63(1): 94-7, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25303182

RESUMO

Nontyphoidal Salmonella infections often present with self-limited gastroenteritis. Extraintestinal focal infections are uncommon but have high mortality and morbidity. Urinary tract infection caused by nontyphoidal Salmonella is usually associated with structural abnormalities of the urinary tract. Nephrocalcinosis and nephrolithiasis are the major risk factors. Although primary hyperparathyroidism has been reported to increase the risk of nephrocalcinosis and nephrolithiasis, little is known about the association between hyperparathyroidism and Salmonella urinary tract infection. We report the case of a 37-year old man who had a history of primary hyperparathyroidism and bilateral nephrocalcinosis and who developed urinary tract infection. Salmonella Group D was isolated from his urine specimen. Salmonella should be considered as a possible causality organism in patients with primary hyperparathyroidism and nephrocalcinosis who develop urinary tract infection. These patients need to be aware of the potential risks associated with salmonellosis.

3.
West Indian med. j ; 63(1): 94-97, Jan. 2014. ilus
Artigo em Inglês | LILACS-Express | ID: biblio-1045796

RESUMO

Nontyphoidal Salmonella infections often present with self-limited gastroenteritis. Extraintestinal focal infections are uncommon but have high mortality and morbidity. Urinary tract infection caused by nontyphoidal Salmonella is usually associated with structural abnormalities of the urinary tract. Nephrocalcinosis and nephrolithiasis are the major risk factors. Although primary hyperparathyroidism has been reported to increase the risk of nephrocalcinosis and nephrolithiasis, little is known about the association between hyperparathyroidism and Salmonella urinary tract infection. We report the case of a 37-year old man who had a history of primary hyperparathyroidism and bilateral nephrocalcinosis and who developed urinary tract infection. Salmonella Group D was isolated from his urine specimen. Salmonella should be considered as a possible causality organism in patients with primary hyperparathyroidism and nephrocalcinosis who develop urinary tract infection. These patients need to be aware of the potential risks associated with salmonellosis.


Las infecciones por Salmonella no tifoidea se presentan a menudo con gastroenteritis auto-limitada. Las infecciones extra-intestinales focales son poco frecuentes, pero tienen una alta mortalidad y morbilidad. La infección de las vías urinarias causada por la Salmonella no tifoidea se asocia generalmente a anomalías estructurales de las vías urinarias. La nefrocalcinosis y la nefrolitiasis son los principales factores de riesgo. Aunque se ha reportado que el hiperparatiroidismo primario aumenta el riesgo de la nefrocalcinosis y la nefrolitiasis, poco se sabe sobre la asociación entre el hiperparatiroidismo y la infección de las vías urinarias por Salmonella. Damos a conocer aquí el caso de un hombre de 37 años con una historia de hiperparatiroidismo primario y nefrocalcinosis bilateral, que desarrolló una infección de las vías urinarias. La Salmonella del grupo D fue aislada de su muestra de orina. La Salmonella se debe considerar como un posible organismo de causalidad en pacientes con hiperparatiroidismo primario y nefrocalcinosis que desarrollan infección del tracto urinario. Estos pacientes necesitan tomar conciencia de los riesgos potenciales asociados con la salmonellosis.

4.
Food Chem ; 149: 25-30, 2014 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-24295672

RESUMO

P-glycoprotein (P-gp) and CYP3A4 both play very important roles in drug bioavailability, resistance and interactions. Our in vitro studies indicated that P-gp function was activated by many isoflavones. This study investigated the in vivo effects of soymilk and miso, isoflavone-rich soy foods, on P-gp and CYP3A by tracing the pharmacokinetics of cyclosporine (CSP), a probe drug of P-gp. Rats were orally administered CSP with and without soymilk or miso. A specific monoclonal fluorescence polarisation immunoassay was used to determine the blood concentration of CSP. The results showed that soymilk and miso significantly decreased the C(max) of CSP by 64.5% and 78.3%, and reduced the AUC(0-540) by 64.9% and 78.3%, respectively. Mechanism studies revealed that the activities of P-gp and CYP3A4 were induced by soymilk and miso. In conclusion, ingestion of soymilk and miso significantly activated the functions of P-gp and CYP3A.


Assuntos
Membro 1 da Subfamília B de Cassetes de Ligação de ATP/metabolismo , Citocromo P-450 CYP3A/metabolismo , Alimentos de Soja/análise , Leite de Soja/metabolismo , Animais , Linhagem Celular Tumoral , Ativação Enzimática , Feminino , Humanos , Masculino , Ratos , Ratos Sprague-Dawley , Leite de Soja/química
6.
Genet Couns ; 23(3): 359-65, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23072183

RESUMO

Osteogenesis imperfecta (OI) types I-V have been inherited in an autosomal dominant pattern. OI type I is associated with mutations in COL1A1 mostly due to a null allele. OI types II-IV are associated with mutations in COL1A1 or COL1A2 and mostly are due to glycine substitutions. It has been suggested that the effect of glycine substitutions is position specific, and the substitution of glycine by serine has much less lethal effect than the substitutions by valine, aspartic acid, glutamic acid, arginine and cysteine. We report identification of c.3064G>A, GGT>AGT, Gly1022Ser (Gly(844) --> Ser844 in triple helix) in exon 43 of the COL1A1 gene in an 8-year-old girl with OI type III. Our report provides evidence that at triple helix glycine residue 844 (p.Gly1022), a glycine substitution by serine can result in OI type III but not a lethal outcome.


Assuntos
Colágeno Tipo I/genética , Mutação de Sentido Incorreto/genética , Osteogênese Imperfeita/genética , Criança , Éxons/genética , Feminino , Genótipo , Glicina/genética , Humanos
7.
Genet Couns ; 23(3): 405-13, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23072190

RESUMO

A 1-year-and-3-month-old girl presented with psychomotor retardation, developmental delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis. Oligonucleotide-based array comparative genomic hybridization revealed a -4.79-Mb deletion of 3p26.2 --> pter encompassing CHL1 and CNTN4, and a -19.56-Mb duplication of 5q34 --> qter encompassing MSX2, NKX2-5 and NSD1. The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta.


Assuntos
Anormalidades Múltiplas/genética , Coartação Aórtica/genética , Síndrome do Miado do Gato/genética , Trissomia/genética , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 5/genética , Deficiências do Desenvolvimento/genética , Nanismo/genética , Feminino , Cardiopatias Congênitas/genética , Humanos , Hibridização In Situ , Lactente , Microcefalia/genética
8.
Genet Couns ; 23(2): 195-200, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22876577

RESUMO

We report a 2 1/2-year-old male infant with a karyotype of 46,XY,del(9)(p22) and the phenotypic features of craniofacial dysmorphisms, hypotonia, psychomotor developmental delay, mental retardation, ventricular septal defect, atrial septal defect, cryptorchidism and postaxial polydactyly of the fingers. A rudimentary poorly developed extra digit in the ulnar side of the fifth finger was observed in each hand. The present case adds to the literature of postaxial hexadactyly of the fingers in chromosome 9p deletion syndrome. We suggest that 9pter-p22 may contain genetic loci associated with human postaxial polydactyly.


Assuntos
Anormalidades Múltiplas/genética , Criptorquidismo/genética , Cardiopatias Congênitas/genética , Fenótipo , Polidactilia/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 9/genética , Humanos , Deficiência Intelectual/genética , Masculino
9.
Genet Couns ; 23(2): 201-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22876578

RESUMO

We report a female infant with a karyotype of 46,XX,der(9)t(9;18)(p22.2;q21.32)pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening. Array comparative genomic hybridization revealed a 16.93-Mb deletion at 9p24.3-p22.2 encompassing the FREM1 gene and a 20.43-Mb duplication at 18q21.32-q23 encompassing the PIGN gene. We speculate that dual genome imbalances in FREMI at 9p22.3 and in PIGN at 18q21.3 are most likely responsible for the abnormal development of anorectum in this patient.


Assuntos
Anormalidades Múltiplas/genética , Anus Imperfurado/genética , Fosfotransferases/genética , Receptores de Interleucina/genética , Trissomia/genética , Malformações Anorretais , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 9/genética , Anormalidades Craniofaciais/genética , Deficiências do Desenvolvimento/genética , Feminino , Cardiopatias Congênitas/genética , Humanos , Lactente , Hibridização de Ácido Nucleico/genética
10.
Genet Couns ; 23(2): 215-21, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22876580

RESUMO

We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.


Assuntos
Paralisia Cerebral/genética , Deleção Cromossômica , Fatores de Transcrição Forkhead/genética , Fatores de Troca do Nucleotídeo Guanina/genética , Receptores de LDL/genética , Proteínas Supressoras de Tumor/genética , Anormalidades Múltiplas/genética , Cromossomos Humanos Par 9/genética , Feminino , Humanos , Lactente
11.
Genet Couns ; 23(2): 223-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22876581

RESUMO

We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. Array comparative genomic hybridization revealed a 15.8-Mb deletion from 11q23.3 to 11q25 without genomic imbalances in other chromosomes. Cytogenetic analysis revealed a karyotype of 46,XX,der(7)(7pter-->7q32),der(11)(11pter--> 11q23.3::7q32-->7qter). The parental karyotypes were normal. This is the first report of pure distal 11q deletion without additional genomic imbalances in a patient with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.


Assuntos
Cromossomos Humanos Par 11/genética , Síndrome da Deleção Distal 11q de Jacobsen/genética , Translocação Genética/genética , Anormalidades Múltiplas/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariótipo , Cariotipagem , Deleção de Sequência/genética
14.
Genet Couns ; 23(1): 1-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22611635

RESUMO

We report an 82-year-old girl with premature aging, a karyotype of 46,XX and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene. The clinical features of accelerated aging and the molecular finding were consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS). In this presentation, we demonstrate the radiological imaging findings of skeletal, oral and craniofacial phenotypes of abnormalities associated with HGPS. The oral and craniofacial abnormalities caused dental caries, severe malocclusion, and swallowing, feeding and speech problems. Dural calcification, and granulation in the ear drum and external ear canal were additionally observed.


Assuntos
Anormalidades Craniofaciais/diagnóstico por imagem , Cárie Dentária/diagnóstico por imagem , Fêmur/diagnóstico por imagem , Mãos/diagnóstico por imagem , Progéria/diagnóstico por imagem , Criança , Anormalidades Craniofaciais/genética , Cárie Dentária/genética , Feminino , Humanos , Lamina Tipo A/genética , Mutação , Progéria/genética , Radiografia
15.
Br J Anaesth ; 108(2): 302-7, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22157847

RESUMO

BACKGROUND: Incorrect placement of epidural catheters causes medical complications. We used linear discriminant analysis (LDA) to develop an intelligent recognition system (i-RS) in order to guide epidural placement and reduce physician error. METHODS: We analysed real-time dual-wavelength fibreoptic data recorded from the end of an epidural needle in a live porcine model. Two categories of tissue layers were necessary for correct placement of catheter: epidural space and ligamentum flavum. The data were tested using linear, quadratic and logistic parametric analysis to identify which method could distinguish the two anatomical structures. RESULTS: LDA was the best fit for our model. There was ∼80% sensitivity and specificity for correct anatomical identification. Error rates based on cross-validation were 17.0% for the epidural space and 18.6% for ligamentum flavum. Error rates were greater with the 532 nm compared with 650 nm wavelength. CONCLUSIONS: The sensitivity and specificity of LDA for identifying the correct anatomical structure was similar to a physician who is an expert in epidural placement. Overall performance of an i-RS could be improved by expanding the database for decision-making and adding a category of uncertainty. This would reduce complications caused by incorrect epidural placement.


Assuntos
Anestesia Epidural/métodos , Tomada de Decisões Assistida por Computador , Anestesia Epidural/efeitos adversos , Anestesia Epidural/instrumentação , Animais , Tomada de Decisões , Modelos Animais de Doenças , Métodos Epidemiológicos , Espaço Epidural/anatomia & histologia , Tecnologia de Fibra Óptica/métodos , Ligamento Amarelo/anatomia & histologia , Erros Médicos/prevenção & controle , Agulhas , Suínos
16.
Public Health ; 126(1): 18-24, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22123456

RESUMO

OBJECTIVES: To investigate the key factors in and gap between perception and performance of daily blood glucose monitoring, regular exercise and diet control in individuals with type 2 diabetes, and to help develop patient-centric healthcare management strategies. STUDY DESIGN: Cross-sectional study. METHODS: A focus group interview was conducted and questionnaires were collected from outpatients with type 2 diabetes. Paired sample t-tests, importance-performance gap analysis and regression analysis were performed. RESULTS: Perseverance was the key factor affecting blood glucose monitoring and regular exercise; the association was stronger in men than women. The critical factor in diet control was the desire to eat. Patients' perceived severity of diabetes and limited daily activities due to diabetes correlated with regular exercise, patients' compliance correlated with glucose monitoring, and perceived health status correlated with diet control. CONCLUSIONS: The cultivation of perseverance and strengthening psychological coping is critical. Health professionals should design tailored services, avoid didactic intervention education programmes, and develop a 'meaning-centred' rather than a 'message-centred' philosophy of exercise. Such a campaign may help to improve self-management and promote health behaviours for people with type 2 diabetes.


Assuntos
Diabetes Mellitus Tipo 2/psicologia , Comportamentos Relacionados com a Saúde , Conhecimentos, Atitudes e Prática em Saúde , Autocuidado/psicologia , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cooperação do Paciente , Inquéritos e Questionários
17.
Genet Couns ; 23(4): 447-55, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23431743

RESUMO

A 3-year-old girl presented with mental retardation, developmental delay, seizures, hypotonia, brachycephaly, a triangular face, single median maxillary central incisor (SMMCI), prominent forehead, down-slanting palpebral fissures, hypertelorism, a high-arched palate, micrognathia and low-set ears. Computed tomographic scans revealed corpus callosum dysgenesis and hypoplasia of bilateral frontal sinuses. Oligonucleotide-based array comparative genomic hybridization analysis revealed a -20.7-Mb duplication of 1q42.13-->qter and a -3.6-Mb deletion of 6q27-->qter. The karyotype of the girl was 46,XX,der(6)t(1;6)(q42.13;q27)pat. Mutational analysis of the patient revealed no mutation in the genes of SHH, SIX3 and TGIF. The present case adds unbalanced chromosome aberration of partial trisomy 1q and partial monosomy 6q to the list of genetic conditions associated with SMMCI.


Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso/genética , Anodontia/genética , Deficiências do Desenvolvimento/genética , Trissomia/genética , Anormalidades Múltiplas/diagnóstico por imagem , Agenesia do Corpo Caloso/diagnóstico por imagem , Anodontia/diagnóstico por imagem , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 6/genética , Craniossinostoses/genética , Facies , Feminino , Deleção de Genes , Duplicação Gênica/genética , Predisposição Genética para Doença/genética , Humanos , Hipertelorismo/genética , Incisivo/anormalidades , Incisivo/diagnóstico por imagem , Deficiência Intelectual/genética , Micrognatismo/genética , Hipotonia Muscular/genética , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Convulsões/genética , Tomografia Computadorizada por Raios X/métodos
18.
Genet Couns ; 23(4): 497-503, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23431751

RESUMO

We report the cytogenetic and molecular characterization of a 9.46-Mb terminal deletion of 2q in a 3-year-old girl with a de novo satellited 2q (2qs), corpus callosum dysgenesis, short stature, mental retardation and developmental delay. We speculate that haploinsufficiency of HDAC4 is responsible for short stature, mental retardation and developmental delay, and haploinsufficiency of EFHD1 is most likely responsible for the phenotype of corpus callosum dysgenesis in this patient.


Assuntos
Anormalidades Múltiplas/genética , Agenesia do Corpo Caloso/genética , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Nanismo/genética , Histona Desacetilases/genética , Deficiência Intelectual/genética , Proteínas Repressoras/genética , Pré-Escolar , DNA Satélite/genética , Deficiências do Desenvolvimento/genética , Facies , Feminino , Marcadores Genéticos/genética , Humanos , Cariotipagem/métodos , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Fenótipo
19.
Genet Couns ; 22(3): 255-61, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22029166

RESUMO

We report molecular and cytogenetic characterization of proximal deletion of chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 4 , Oftalmopatias/genética , Anormalidades Dentárias/genética , Adolescente , Anfirregulina , Betacelulina , Proteína Morfogenética Óssea 2/genética , Proteínas do Esmalte Dentário/genética , Nanismo/genética , Família de Proteínas EGF , Proteínas da Matriz Extracelular , Oftalmopatias/congênito , Feminino , Glicoproteínas/genética , Haploinsuficiência , Humanos , Deficiência Intelectual/genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Proteínas/genética , Puberdade Tardia/genética , Síndrome
20.
Genet Couns ; 22(3): 273-80, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22029168

RESUMO

We report molecular cytogenetic characterization of mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses. The supernumerary r(1) is associated with gene dosage increase of CHRNB2, ADAR and KCNJ10 in the pericentromeric area of 1q, and a breakpoint within CTTNBP2NL at 1p13.2. We speculate that the gene dosage increase of CHRNB2, ADAR and KCNJ10 is most likely responsible for epilepsy, and the breakpoint at 1p13.2 in the supernumerary r(1) is most likely responsible for the development of multiple exostoses and osteochondroma in this patient.


Assuntos
Anormalidades Múltiplas , Duplicação Cromossômica , Cromossomos Humanos Par 1 , Epilepsia/genética , Exostose Múltipla Hereditária/genética , Mosaicismo , Cromossomos em Anel , Adenosina Desaminase/genética , Proteínas de Transporte/genética , Criança , Dermatofibrossarcoma/congênito , Dermatofibrossarcoma/genética , Assimetria Facial/genética , Feminino , Dosagem de Genes , Humanos , Proteínas de Membrana Transportadoras , Proteínas do Tecido Nervoso/genética , Canais de Potássio Corretores do Fluxo de Internalização/genética , Transtornos Psicomotores/genética , Proteínas de Ligação a RNA , Receptores Nicotínicos/genética , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/genética , Curvaturas da Coluna Vertebral/genética
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