Assuntos
Doenças Fetais/diagnóstico por imagem , Eminência Mediana/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Aborto Induzido/métodos , Adulto , Diagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Eminência Mediana/diagnóstico por imagem , Eminência Mediana/patologia , Malformações do Sistema Nervoso/embriologia , Malformações do Sistema Nervoso/patologia , GravidezRESUMO
This study compared the effectiveness of Ricinus communis (RC) with Nystatin (NYS) and Miconazole (MIC) in the treatment of institutionalised elderly with denture stomatitis (DS). They (n = 30) were randomly distributed into three groups: MIC, NYS or RC. Clinical and mycological evaluations were performed prior to the use of the antifungal (baseline) and repeated after 15 and 30 days of treatment. The sample was clinically examined for oral mucosal conditions. Standard photographs were taken of the palate, and the oral candidiasis was classified (Newton's criteria). Mycological investigation was performed by swabbing the palatal mucosa, and Candida spp. were quantified by counting the number of colony-forming units (cfu mL⻹). The clinical and mycological data were analysed, respectively by Wilcoxon and Student's t-test (α = 0.05). Significant improvement in the clinical appearance of DS in the MIC and RC groups was observed between the 1st and 3rd collections (MIC - P = 0.018; RC - P = 0.011) as well as between the 2nd and 3rd collections (MIC - P = 0.018; RC - P = 0.011). Neither groups showed a statistically significant reduction in cfu mL⻹ at any time. Although none of the treatments decreased the cfu mL⻹, it was concluded that Ricinus communis can improve the clinical condition of denture stomatitis in institutionalised elderly patients, showing similar results to Miconazole.
Assuntos
Antifúngicos/uso terapêutico , Candidíase Bucal/tratamento farmacológico , Fitoterapia , Preparações de Plantas/uso terapêutico , Ricinus , Estomatite sob Prótese/tratamento farmacológico , Administração Tópica , Idoso , Idoso de 80 Anos ou mais , Antifúngicos/administração & dosagem , Candida/efeitos dos fármacos , Candida/isolamento & purificação , Contagem de Colônia Microbiana , Prótese Total/microbiologia , Prótese Parcial Removível/microbiologia , Feminino , Seguimentos , Humanos , Institucionalização , Masculino , Miconazol/administração & dosagem , Miconazol/uso terapêutico , Pessoa de Meia-Idade , Antissépticos Bucais/uso terapêutico , Nistatina/administração & dosagem , Nistatina/uso terapêutico , Higiene Bucal/educação , Preparações de Plantas/administração & dosagem , Estomatite sob Prótese/microbiologia , Resultado do TratamentoRESUMO
BACKGROUND AND AIMS: Obesity is a pro-atherogenic condition and postprandial lipoprotein profile and circulating cytokines changes may contribute to promote the process. The aim of this study is to investigate postprandial metabolic response, lipoprotein oxidation and circulating cytokine levels, after the ingestion of two different meals with different fat/carbohydrate ratio. METHODS AND RESULTS: Ten prepubertal obese boys consumed two meals with the same energy and protein content but with a different carbohydrate to fat ratio: 1) moderate fat (MF): 61% carbohydrate, 27% fat; 2) high fat (HF): 37% carbohydrate, 52% fat. The AUC of glucose and insulin were significantly (p < 0.05) lower after the HF meal. HF meal was followed by a significant decrease in the cholesterol carried in the HDL fractions, while cholesterol in the small, dense LDL and in the VLDL particles increased, as compared to baseline (p < 0.05 for all). No differences were found in the cholesterol distribution after the MF meal. Moreover, HDL-C concentration was lower (p < 0.05) at 300 min after HF vs. MF meal. Oxidized LDL (ox-LDL) concentration increased after the HF meal but not after the MF meal [9.3(2.2) vs 1.8(2.2)% from baseline, P < 0.02)]. A positive association (r > 0.3, P < 0.05) was observed between the densest LDL particles and the ox-LDL plasma levels. A reduction of IL-6 was found at 120 min after the MF [-23.3(5.5) vs -8.4(3.8)% from baseline, P < 0.05)] compared with the HF meal. CONCLUSION: A simple change of ≈25% of energy load from fat to carbohydrate in a meal significantly improves postprandial pro-atherogenic factors in obese boys.
Assuntos
Biomarcadores/sangue , Dieta Hiperlipídica , Dieta , Comportamento Alimentar , Inflamação/metabolismo , Período Pós-Prandial , Absorciometria de Fóton , Área Sob a Curva , Glicemia/análise , Criança , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Estudos Cross-Over , Ingestão de Energia , Humanos , Inflamação/fisiopatologia , Insulina/sangue , Masculino , Refeições , Triglicerídeos/sangueRESUMO
Primary lymphedema is characterized by altered morphological development of lymphatic vessels causing fluid accumulation in interstitial spaces. In familial forms, it is primarily transmitted as a dominant Mendelian trait with heterozygous mutations in genes involved in lymphangiogenesis. We used PCR and direct sequencing to analyze the region of the fms-related tyrosine kinase 4 (FLT4) gene encoding the "tyrosine-kinase domain" and the single exon of the forkhead box C2 (FOXC2) gene in 46 Italian probands with primary lymphedema, 42 of whom had familial forms. We identified 12 mutations in 12 patients (12/46, 26%), six in the FLT4 gene and six in the FOXC2 gene. Most of the mutations (9/12, 75%) were new, and none were identified in 100 healthy subjects or listed in the NCBI dbSNP. A clear relation emerged between genotype and phenotype because 4/5 (80%) probands with onset at birth showed FLT4 mutations and 4/5 (80%) probands without distichiasis and with FOXC2 mutations had an amino-acid substitution outside the forkhead domain. Besides the allelic heterogeneity shown by unique mutations in each proband, the absence of mutations in almost 75% of familial cases of primary lymphedema also suggests genetic heterogeneity.
Assuntos
Fatores de Transcrição Forkhead/genética , Linfangiogênese/genética , Linfedema/genética , Mutação , Receptor 3 de Fatores de Crescimento do Endotélio Vascular/genética , Idade de Início , Estudos de Casos e Controles , Análise Mutacional de DNA , Éxons , Feminino , Predisposição Genética para Doença , Humanos , Itália , Linfedema/patologia , Linfedema/fisiopatologia , Masculino , Fenótipo , Reação em Cadeia da Polimerase , Adulto JovemRESUMO
OBJECTIVES: This pilot study aims to investigate the prevalence of noncarious cervical lesions (NCCLs) in a student population at the Faculty of Dentistry of AraçatubaUNESP and to assess the potential relation between buccal hygiene habits and the presence and number of NCCLs. METHODS: This study was conducted with a sample of 58 young volunteers (15 men and 43 women; mean age, 23.6 ± 1.8 years and 22.3 ± 2.4 years, respectively). The research was divided into three steps: 1) clinical assessment; 2) oral-hygiene practices self-report questionnaire; and 3) analysis of toothbrush filament deformations. After the clinical exam the participants were divided into two groups, a control group (without NCCLs) and a test group (NCCLs), according to NCCL presence. The data were statistically analyzed with SPSS 16.0 software, using t-test, χ2, Fisher exact test, and Spearman correlation. RESULTS: NCCLs were present in 53% of the subjects. The presence of NCCLs was marginally statistically associated with age (p=0.15) and proportionally more prevalent in male (80%) subjects (p=0.01). NCCLs were more concentrated in the posterior-superior quadrant (93%) in both the right (90%) and left (55%) sides of the mouth. The direct rank correlation was presented between presence of NCCLs and toothbrush firmness; and between number of NCCLs and age and force applied during toothbrushing. CONCLUSION: Within the limitations of this pilot study, the use of medium and hard toothbrushes and greater force applied during toothbrushing might contribute to the development and/or aggravation of NCCLs.
Assuntos
Abrasão Dentária/etiologia , Colo do Dente/patologia , Escovação Dentária/efeitos adversos , Adulto , Distribuição de Qui-Quadrado , Estudos Transversais , Relação Dose-Resposta a Droga , Desenho de Equipamento , Feminino , Humanos , Masculino , Projetos Piloto , Fatores Sexuais , Estatísticas não Paramétricas , Adulto JovemRESUMO
BACKGROUND AND PURPOSE: The ganglionic eminences are transient fetal brain structures that produce a range of neuron types. Ganglionic eminence anomalies have been recognized on fetal MR imaging and anecdotally found in association with a number of neurodevelopmental anomalies. The aim of this exploratory study was to describe and analyze the associations between ganglionic eminence anomalies and coexisting neurodevelopmental anomalies. MATERIALS AND METHODS: This retrospective study includes cases of ganglionic eminence anomalies diagnosed on fetal MR imaging during a 20-year period from 7 centers in Italy and England. Inclusion criteria were cavitation or increased volume of ganglionic eminences on fetal MR imaging. The studies were analyzed for associated cerebral developmental anomalies: abnormal head size and ventriculomegaly, reduced opercularization or gyration, and abnormal transient layering of the developing brain mantle. The results were analyzed using χ2 and Fisher exact tests. RESULTS: Sixty fetuses met the inclusion criteria (21 females, 24 males, 15 sex unknown). Thirty-four had ganglionic eminence cavitations (29 bilateral and 5 unilateral), and 26 had increased volume of the ganglionic eminences (19 bilateral, 7 unilateral). Bilateral ganglionic eminence cavitations were associated with microcephaly (P = .01), reduced opercularization, (P < .001), reduced gyration (P < .001), and cerebellar anomalies (P = .01). Unilateral ganglionic eminence cavitations were not significantly associated with any particular feature. Bilateral increased volume of the ganglionic eminences showed an association with macrocephaly (P = .03). Unilateral increased volume was associated with macrocephaly (P = .002), abnormal transient layering (P = .001), unilateral polymicrogyria (P = .001), and hemimegalencephaly (P < .001). CONCLUSIONS: Ganglionic eminence anomalies are associated with specific neurodevelopmental anomalies with ganglionic eminence cavitations and increased ganglionic eminence volume apparently having different associated abnormalities.
Assuntos
Imageamento por Ressonância Magnética , Encéfalo , Feminino , Feto/diagnóstico por imagem , Humanos , Masculino , Gravidez , Diagnóstico Pré-Natal , Estudos RetrospectivosRESUMO
Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so-called "molar tooth sign" (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS-related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living child with JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity.
Assuntos
Anormalidades Múltiplas/diagnóstico , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/patologia , Irmãos , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Aborto Eugênico , Criança , Análise Mutacional de DNA , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/genética , Doenças Fetais/patologia , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/genética , Gravidez , SíndromeRESUMO
OBJECTIVES: Subjects with type 1 diabetes mellitus (DM) are at increased risk to develop celiac disease (CD). However, most of the published investigations on the association between type 1 DM and CD are cross-sectional ones. In this paper, longitudinal data are presented on the effects of gluten-free diet (GFD) on growth and metabolic control in children and adolescents with type 1 DM screened for CD. METHODS: Clinical records of 27 patients with type 1 DM+CD (7% of a population of 385 subjects with type 1 DM) were reviewed. The following variables were considered at the diagnosis of CD (T0) and after 24 (T24) and 48 (T48) months of GFD according to the length of available follow-up: weight, height, body mass index (BMI), Hb and HbA1c levels and per kg/day dose of insulin. Forty-three patients with type 1 DM alone, matched for sex, age and duration of diabetes were chosen as controls. RESULTS: In patients with type 1 DM+CD, mean (SD) age at type 1 DM diagnosis was 8 (3.3) years. Median time interval between diagnosis of type 1 DM and of CD was 1.8 years (range 0.1-23.9 years). At T0 (n = 23), height and BMI z-score, HbA1c levels and daily insulin dose were comparable in type 1 DM+CD and in control subjects. Mean Hb concentration was significantly lower in subjects with type 1 DM+CD (12.6 (1.3) vs. 13.3 (0.7) g/dl, p < 0.05). At T24 (n = 22) and T48 (n = 16), no difference was detectable in height, BMI, HbAlc and insulin dose and also Hb concentration was comparable in both groups. CONCLUSIONS: This study shows that, at diagnosis of CD, screened subjects with type 1 DM had only minor signs of malnutrition and metabolic disturbances were uncommon. Dietary treatment of CD can allow a growth and diabetes control comparable with subjects with diabetes alone.
Assuntos
Doença Celíaca/diagnóstico , Doença Celíaca/terapia , Diabetes Mellitus Tipo 1/complicações , Adolescente , Fatores Etários , Índice de Massa Corporal , Estudos de Casos e Controles , Doença Celíaca/dietoterapia , Doença Celíaca/etiologia , Criança , Pré-Escolar , Interpretação Estatística de Dados , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/tratamento farmacológico , Feminino , Seguimentos , Hemoglobinas Glicadas/análise , Hemoglobinometria , Humanos , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/uso terapêutico , Lactente , Insulina/administração & dosagem , Insulina/uso terapêutico , Estudos Longitudinais , Masculino , Fatores de Risco , Fatores Sexuais , Fatores de TempoRESUMO
Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data. The butterfly sign can be clearly detected on axial images on fetal MR imaging, thus allowing for the prenatal diagnosis of diencephalic-mesencephalic junction dysplasia, with possible implications for the surgical management of hydrocephalus and parental counseling.
Assuntos
Diencéfalo/anormalidades , Diencéfalo/diagnóstico por imagem , Mesencéfalo/anormalidades , Mesencéfalo/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Adulto , Feminino , Feto , Idade Gestacional , Humanos , Hidrocefalia/congênito , Hidrocefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-NatalRESUMO
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.
Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Síndrome dos Cabelos Torcidos/diagnóstico por imagem , Síndrome dos Cabelos Torcidos/patologia , Neuroimagem , Progressão da Doença , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Substância Branca/diagnóstico por imagem , Substância Branca/patologiaRESUMO
IDDM patients of North East Italian region were molecularly typed for their HLA-DQB1 and DQA1 loci by using allele specific oligonucleotide probes and PCR amplified genomic DNA. IDDM status strongly correlated with DQB1 alleles carrying a non-aspartic acid residue in position 57 of DQ beta chain and DQA1 alleles with an arginine residue in position 52 of DQ alpha chain. Genotype analysis revealed that individuals with two DQB1 alleles having a non-aspartic residue in position 57 and two DQA1 alleles with an arginine residue in position 52 had the highest relative risk of disease: they constituted 41% of IDDM patients as compared to 0% of controls. Heterozygosity either at residue 57 of DQB1 or residue 52 of DQA1 was sufficient to abrogate statistical significance for disease association, although 43.6% of IDDM patients were included in these two groups as compared to 21.6% of normal controls. On the other hand the presence of two DQB1 alleles with aspartic acid in position 57 was sufficient to confer resistance to disease irrespective of the DQA1 genotype. Based on the number of possible susceptible heterodimers an individual can form, it was found that 85% of IDDM cases could form two or more heterodimers (two in cis and two in trans), but no IDDM case was found to form one susceptible heterodimer in cis. These results demonstrate that the complete HLA-DQ genotype, more than single DQB1 or DQA1 alleles or DQB1-DQA1 haplotypes, is associated with the highest risk of disease. Screening of the population for preventive purposes and/or early signs of IDDM should then take advantage of this result and "susceptible homozygous" individuals should be followed very closely and considered the first group of choice for possible new therapeutical trials.
Assuntos
Diabetes Mellitus Tipo 1/etiologia , Genes MHC da Classe II/genética , Antígenos HLA-DQ/genética , Alelos , Sequência de Bases , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/imunologia , Feminino , Ligação Genética , Genótipo , Cadeias alfa de HLA-DQ , Cadeias beta de HLA-DQ , Haplótipos , Teste de Histocompatibilidade , Humanos , Itália/etnologia , Masculino , Dados de Sequência Molecular , Sondas de OligonucleotídeosRESUMO
We report on HLA-DQB1 typing in IDDM patients of north east Italian region using an enzymatic method based on the detection of hybridization reaction between PCR amplified DNA from whole blood and allele specific oligonucleotides by an antibody directed against double stranded DNA (DNA-enzyme immunoassay or DEIA). The method is reliable, simple and sensitive as the classical radioactive method with the advantage of using a universal non radioactive detection reagent. Nineteen families, each including one subject with juvenile insulin-dependent diabetes mellitus (IDDM) were analyzed. A strong association between absence of an aspartic acid (Asp) in position 57 of DQB1 beta chain in homozygous conditions and susceptibility to IDDM was found. In contrast with some previous observations, however, no significant association was found between Asp/non-Asp heterozygous genotype and IDDM. No patients were found with an homozygous Asp/Asp genotype, known to be protective in caucasoid population. Of particular interest was the DQB1 allelic distribution in our population sample. The non-Asp allele most frequently found in IDDM subjects was the DQB1 0201 allele and this finding was statistically significant (Pc value < 0.05, relative risk = 5.01). No significant association was found for any other allele including the DQB1 0302 (Pc value = not significant although with relative risk = 3.28) previously reported as the most frequent allele in IDDM caucasoid patients.
Assuntos
Diabetes Mellitus Tipo 1/imunologia , Antígenos HLA-DQ/genética , Adolescente , Adulto , Alelos , Sequência de Bases , Southern Blotting , Linhagem Celular , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/genética , Frequência do Gene , Cadeias beta de HLA-DQ , Humanos , Técnicas Imunoenzimáticas , Imunofenotipagem , Itália , Dados de Sequência Molecular , Sondas de Oligonucleotídeos , Linhagem , Reação em Cadeia da Polimerase , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: To analyze the HLA-DQ (human leukocyte antigen) genetic association with insulin-dependent diabetes mellitus (IDDM) patients of the Northeast Italian population. RESEARCH DESIGN AND METHODS: Fifty-one IDDM patients and 52 healthy control subjects were molecularly typed for DQB1 and DQA1 loci by using allele-specific oligonucleotide probes and polymerase chain reaction amplified genomic DNA. DNA enzyme immunoassay was used to assess allele specificities. RESULTS: IDDM status strongly correlated with DQB1 alleles carrying a non-aspartic acid (non-Asp) residue in position 57 of DQ beta-chain and DQA1 alleles with an arginine (Arg) residue in position 52 of DQ alpha-chain. Individuals with two DQB1 (non-Asp) alleles and two DQA1(Arg) alleles had the highest relative risk for disease: they constituted approximately 40% of IDDM patients compared with 0% of control subjects. Heterozygosis at either residue 57 of DQB1 or residue 52 of DQA1 was sufficient to abrogate statistical significance for disease association, although 47% of IDDM patients were included in these two groups compared with 21% of normal control subjects. On the other hand, the presence of two DQB1 alleles with Asp in position 57 was sufficient to confer resistance to disease irrespective of the DQA1 genotype. CONCLUSIONS: The results demonstrate that the complete HLA-DQ genotype, more than a single DQB1 or DQA1 locus, should be determined to estimate the highest risk for disease. Screening a population for preventive purposes and/or early signs of IDDM should then take advantage of this result, and "susceptible homozygous" individuals should be followed very closely and considered the first group of choice for possible new therapeutic trials.
Assuntos
Diabetes Mellitus Tipo 1/genética , Antígenos HLA-DQ/genética , Alelos , Sequência de Bases , DNA/genética , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/imunologia , Predisposição Genética para Doença , Genótipo , Cadeias alfa de HLA-DQ , Cadeias beta de HLA-DQ , Homozigoto , Humanos , Itália/epidemiologia , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Valor Preditivo dos TestesRESUMO
Visual evoked potentials were studied in 30 insulin-dependent diabetic children and adolescents. Thirty percent of the subjects had evidence of significant abnormalities. No correlation was found between visual evoked potentials and age, duration of diabetes, metabolic control, and retinopathy.
Assuntos
Diabetes Mellitus Tipo 1/fisiopatologia , Potenciais Evocados Visuais , Adolescente , Adulto , Envelhecimento , Criança , Pré-Escolar , Neuropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/fisiopatologia , Retinopatia Diabética/fisiopatologia , Feminino , Humanos , Masculino , Nervo Óptico/fisiopatologia , Tempo de ReaçãoRESUMO
The resting metabolic rate (RMR) and the thermic effect of a meal (TEM) were measured in a group of 16 prepubertal (8.8 +/- 0.3 y) obese children (43.6 +/- 9.2 kg) and compared with a group of 10 age-matched (8.6 +/- 0.4 y), normal-weight children (31.0 +/- 6.0 kg). The RMR was higher in the obese than in the control children (4971 +/- 485 vs 4519 +/- 326 kJ/d, P < 0.05); after the RMR was adjusted for the effect of fat-free mass (FFM) the values were not significantly different (4887 +/- 389 vs 4686 +/- 389 kJ/d). The thermic response to a liquid mixed meal, expressed as a percentage of the energy content of the meal, was significantly lower in obese than in control children (4.4 +/- 1.2% vs 5.9 +/- 1.7%, P < 0.05). The blunted TEM shown by the obese children could favor weight gain and suggests that the defect in thermogenesis reported in certain obese adults may have already originated early in life.
Assuntos
Temperatura Corporal/fisiologia , Ingestão de Energia/fisiologia , Obesidade/fisiopatologia , Calorimetria Indireta , Criança , Pré-Escolar , Metabolismo Energético/fisiologia , Humanos , Obesidade/metabolismo , Descanso/fisiologiaRESUMO
Qualitative and/or quantitative alterations in the expression of the MHC class II molecules affect the onset and maintenance of the immune response and may be the basis of a wide variety of disease states, such as autoimmunity and immunodeficiency.CIITA is a major physiological regulator of the expression of MHC class II genes. The availability of CIITA ap- pears generally essential for MHC class II gene expression, and hence its own transcriptional regulatory mechanisms result of fundamental importance for a correct homeostasis of the immune response. Therefore, it is possible to hypothesize that variability at the CIITA-encoding locus, AIR-1, could constitute an additional source of susceptible traits to autoimmune diseases. Mutations at AIR-1/CIITA promoters could modulate expression of CIITA. Variations in CIITA expression could influence the qualitative and quantitative expression of MHC class II molecules at cell surface. We have analyzed sequence variation at AIR-1/CIITA promoters by PCR-SSCP in 23 IDDM and 30 RA patients compared to a sample of 19 unaffected normal controls and 16 unaffected IDDM family members, for a total of 88 Caucasian subjects from the Northeast of Italy. No sequence difference was found at the four AIR-1/CIITA promoters between autoimmune patients and normal controls. Moreover, the promoters resulted invariant within the entire group of 88 subjects analyzed, comprising patients and controls. This finding suggests a possible selective advantage in maintaining CIITA upstream regulatory sequences invariant.
Assuntos
Artrite Reumatoide/genética , Diabetes Mellitus Tipo 1/genética , Genes MHC da Classe II , Proteínas Nucleares , Transativadores/genética , Artrite Reumatoide/imunologia , DNA/análise , Diabetes Mellitus Tipo 1/imunologia , Variação Genética , Humanos , Itália , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Regiões Promotoras GenéticasRESUMO
PURPOSE: To determine the diagnostic accuracy of three-dimensional MR myelography in the evaluation of traumatic injuries of the brachial plexus. METHODS: Twenty patients with clinical and electromyographic evidence of traumatic brachial plexopathy were examined with three-dimensional MR myelography, conventional cervical myelography, and CT myelography 1 to 9 months after trauma. Three-dimensional MR myelography was performed on a 1.5-T MR unit with a constructive interference in steady state (CISS) technique. For each patient, maximum intensity myelographic projections and multiplanar reconstruction reformatted 1-mm axial sections were obtained from the same 3-D data set. Three-dimensional MR myelographic findings were compared with findings at cervical myelography and CT myelography. Surgical findings were available for comparison in 13 patients. RESULTS: Three-dimensional MR myelography enabled detection of meningoceles with avulsed or intact nerve roots, partial or complete radicular avulsions without disruption of the thecal sac, dural sleeve abnormalities, and dural scars. Assuming cervical myelography and CT myelography as the standards of reference, 3-D MR myelography showed 89% sensitivity, 95% specificity, and 92% diagnostic accuracy in the evaluation of nerve root integrity. CONCLUSION: Three-dimensional MR myelography can show the majority of traumatic lesions that involve the proximal portion of the brachial plexus in a single rapid examination. On the basis of our findings, we propose this technique as a screening examination for patients with traumatic brachial plexus palsy.
Assuntos
Plexo Braquial/lesões , Processamento de Imagem Assistida por Computador/instrumentação , Imageamento por Ressonância Magnética/instrumentação , Mielografia/instrumentação , Adolescente , Adulto , Plexo Braquial/patologia , Feminino , Humanos , Masculino , Meningocele/diagnóstico , Meningocele/patologia , Pessoa de Meia-Idade , Ruptura , Sensibilidade e Especificidade , Raízes Nervosas Espinhais/lesões , Raízes Nervosas Espinhais/patologiaRESUMO
The thermic effect of a meal (TEM) was measured in a group of 10 prepubertal obese children before (OB) and after (OA) weight reduction, and in a group of 10 age-matched control children (C) of normal body weight. Following a hypocaloric balanced diet for 6 +/- 1 months, the obese children lost 5.2 +/- 1.3 kg i.e. 11% of their initial body weight. The thermic response to the mixed liquid meal - fed at an energy level corresponding to 30% of the 24 h premeal resting metabolic rate - was found to be significantly lower in OB than in C children (61 +/- 25 kJ.3h-1 vs 79 +/- 21 kJ.3h-1, P less than 0.05), despite their higher test meal energy. After slimming, the TEM of obese children increased towards the controls' values (73 +/- 30 kJ.3h-1). These results support the hypothesis of the existence of a moderate thermogenic defect in some obese children which represents a consequence rather than an aetiological factor of obesity.
Assuntos
Regulação da Temperatura Corporal , Dieta Redutora , Metabolismo Energético , Obesidade/metabolismo , Glicemia/metabolismo , Composição Corporal , Calorimetria , Criança , Ingestão de Alimentos , Feminino , Humanos , Insulina/metabolismo , Masculino , Obesidade/dietoterapia , Fatores de Tempo , Redução de PesoRESUMO
BACKGROUND: Early pathogenetic events of gluten intolerance may be overlooked in patients with serologic markers of celiac disease and normal intestinal mucosa by both conventional histology and immunohistochemistry. AIMS: To investigate if a submicroscopical damage of the absorptive cell surface was associated with developing gluten sensitivity. PATIENTS AND METHODS: Duodenal biopsies of seven subjects with positive anti-endomysial antibodies and normal histology underwent ultrastructural evaluation of the epithelial surface by means of both scanning and transmission electron microscopy. Specimens of intestinal mucosa of 14 children with non-celiac conditions were used as controls. RESULTS: In four patients, electron microscopy revealed alterations of the enterocyte brush border with a significant reduction of the height of microvilli. After several months, three of them had a second biopsy that eventually showed histological modifications suggestive of celiac disease. In the other three patients, no significant alteration of enterocyte ultrastructure was observed. One of them, rebiopsied after 12 months, still showed a normal duodenal histology. CONCLUSIONS: Gluten sensitivity can be associated with 'minimal' mucosal changes not detectable with conventional light microscopy. Such lesions, which primarily involve microvillous structure, may imply a reduction of intestinal absorptive surface already in the latent stage of the disease.
Assuntos
Doença Celíaca/patologia , Duodeno/patologia , Mucosa Intestinal/patologia , Adolescente , Adulto , Biópsia , Estudos de Casos e Controles , Criança , Pré-Escolar , Duodeno/ultraestrutura , Enterócitos/patologia , Enterócitos/ultraestrutura , Feminino , Humanos , Mucosa Intestinal/ultraestrutura , Masculino , Microscopia Eletrônica , Microvilosidades/patologia , Microvilosidades/ultraestruturaRESUMO
HLA-A, B, C, DR and DQ typing was performed in 381 Italian insulin-dependent diabetic patients and in 905 normal Italian subjects. The diabetic patients had significantly higher frequencies of HLA-Cw7, B8, B18, DR3, DR4, DQw2 and DQw3 and significantly lower frequencies of HLA-B17, Bw51, DR2, DR7 and DRw11. The frequency of heterozygosity for HLA-DR3/DR4 was significantly higher in patients who developed the disease in the first 2 years of life and DR3+/DR4-, DQw2 and DQw3 alleles were higher in those aged less than 14 years at onset. The HLA-DR4 allele was associated with onset of diabetes in autumn and HLA-B18 with onset in Autumn-winter. Diabetic children who were breast fed had a later onset of insulin-dependent diabetes mellitus than those who were bottle fed but these differences were independent of HLA typing (11.8 +/- 0.72 years vs 9.23 +/- 0.42 years; mean +/- SEM). We conclude that: (1) in general, HLA distribution in Italian insulin-dependent diabetic patients reflects previous data reported in other European and North American populations; (2) HLA-DR3 and DR4 are strongly associated with insulin-dependent diabetes in Italy as well, and these alleles seem to predispose to an earlier onset of the disease; and (3) breast feeding may delay the onset of the disease.