RESUMO
Objetivo: analisar a produção científica sobre as ações de saúde mental desenvolvidas no âmbito da Estratégia Saúde da Família. Metodologia: revisão integrativa de literatura realizada na Biblioteca Virtual em Saúde, PubMed e Web of Science, que após aplicação dos critérios, selecionaram-se 14 artigos científicos. Resultados: as ações de saúde mental desenvolvidas na Saúde da Família são de matriciamento, o Programa Intervenção Precoce, a Terapia Comunitária Integrativa, os grupos terapêuticos e a visita domiciliar. Também foi identificado o desenvolvimento de práticas focadas na doença com o privilégio de consultas ambulatoriais e o uso excessivo de psicofármacos. Há necessidade de investimentos na formação do profissional da saúde, além do fortalecimento da rede extra-hospitalar que sirva de retaguarda para a Saúde da Família. Conclusão: a literatura aponta que o cuidado em saúde mental na Saúde da Família é tímido e ainda muito focado no modelo biomédico.
Objective: to analyze scientific production on mental health actions developed in the Family Health Strategy. Methodology: integrative review of the literature in the Health Virtual Library, PubMed and Web of Science, that after applying the criteria, 14 scientific articles were selected. Results: the mental health actions developed in the Family Health are matricial practice strategies, the early-intervention programmes, Integrative Communion, therapeutic groups and household visit. The development of disease-focused practices was also identified with the privilege of ambulatory consultations and the excessive use of psychiatric drugs. There is a permanent necessity of investments in the training of health and education professionals, besides the strengthening of the extra hospital network, serving as a backup for the family health. Conclusion: the literature points out that mental health care in the family health is timid and still too much focused in the biomedical model.
Assuntos
Humanos , Assistência Integral à Saúde , Estratégias de Saúde Nacionais , Saúde MentalRESUMO
Reproductive efficiency has a great impact on the economic success of pork production. Stillborn pigs and average birth interval contribute to the number of pigs born alive in a litter. To better understand the underlying genetics of these traits, a genomewide association study was undertaken. Samples of DNA were collected and tested using the Illumina Porcine SNP60 BeadChip from 798 females farrowing over a 4-yr period (all first parity). Birth intervals and piglet birth status (stillborn or alive) were determined by videotaping each farrowing event. A total of 41,148 SNP were tested using the Bayes C option of GenSel (version 4.61) and 1-Mb windows. These 1-Mb windows explained proportions of 0.017, 0.002, 0.032, 0.029, and 0.030 of the total variation, respectively, for litter average birth interval after deletion of the last piglet born, last birth interval in the litter, number of stillborn piglets ignoring the last piglet born, number of stillborns in the last birth position, and percent stillborn ignoring the last piglet. Significant 1-Mb nonoverlapping SNP windows were identified by using a conservative approach requiring 1-Mb windows to have a genetic variance ≥1.0% of genomic variance and these were considered to be QTL. Quantitative trait loci were located for number of stillborn piglets ignoring the last piglet born (1 QTL), number of stillborns in the last birth position (1 QTL), and percent stillborn ignoring the last piglet (3 QTL). In addition, 2, 13, 3, and 6 suggestive 1-Mb nonoverlapping SNP windows were identified for litter average birth interval after deletion of the last piglet born, number of stillborn piglets ignoring the last piglet born, number of stillborns in the last birth position, and percent stillborn ignoring the last piglet, respectively. Possible candidate genes affecting both birth interval and stillbirth included () and (). Possible genes affecting only birth interval included (), and (), and those affecting only stillbirth included (), LOC100518697 (a nostrin-like gene), and (). The QTL and the suggestive 1-Mb nonoverlapping SNP windows may lead to genetic markers for marker assisted selection, marker assisted management, or genomic selection applications in commercial pig populations.
Assuntos
Intervalo entre Nascimentos/estatística & dados numéricos , Cruzamento/métodos , Marcadores Genéticos/genética , Tamanho da Ninhada de Vivíparos/genética , Natimorto/genética , Análise de Variância , Animais , Teorema de Bayes , Feminino , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Gravidez , Locos de Características Quantitativas , SuínosRESUMO
Reproductive efficiency has a great impact on the economic success of pork production. Ovulation rate is an early component of reproduction efficiency and contributes to the number of pigs born in a litter. To better understand the underlying genetics of ovulation rate, a genomewide association study was undertaken. Samples of DNA were collected and tested using the Illumina Porcine SNP60 BeadChip from 1,180 females with ovulation measurements ranging from never farrowed to measurements taken after parity 2. A total of 41,848 SNP were tested using the Bayes C option of GenSel. After the Bayes C analysis, SNP were assigned to sliding windows of 5 consecutive SNP by chromosome-position order beginning with the first 5 SNP on SSC1 and ending with the last 5 SNP on SSCX. The 5-SNP windows were analyzed using the Predict option of GenSel. From the Predict analysis, putative QTL were selected having no overlap with other 5-SNP window groups, no overlap across chromosomes, and the highest genetic variation. These putative QTL were submitted to statistical testing using the bootstrap option of GenSel. Of the putative QTL tested, 80 were found to be statistically significant (P < 0.01). Ten QTL were found on SSC1, 12 on SSC2, 4 on SSC3, 8 on SSC4, 3 on SSC5, 3 on SSC6, 3 on SSC7, 4 on SSC8, 2 on SSC9, 4 on SSC10, 1 on SSC12, 4 on SSC13, 2 on SSC14, 4 on SSC15, 4 on SSC16, 6 on SSC17, 4 on SSC18, and 1 on SSCX. Sixteen QTL were found to be statistically significant at the P < 0.001 level. Six additional QTL were significant at the P = 0.001 level. These 22 QTL accounted for 71.10% of the total genetic variance. The most compelling candidate genes in these regions include Estrogen receptor 1, growth differentiation factor 9, and inhibin ßA. These QTL, when combined with information on genes found in the same regions, should provide useful information that could be used for marker assisted selection, marker assisted management, or genomic selection applications in commercial pig populations.
Assuntos
Estudo de Associação Genômica Ampla , Ovulação/fisiologia , Reprodução/fisiologia , Suínos/genética , Suínos/fisiologia , Animais , Teorema de Bayes , Receptor alfa de Estrogênio/genética , Receptor alfa de Estrogênio/metabolismo , Feminino , Variação Genética , Genômica , Fator 9 de Diferenciação de Crescimento/genética , Fator 9 de Diferenciação de Crescimento/metabolismo , Subunidades beta de Inibinas/genética , Subunidades beta de Inibinas/metabolismo , GravidezRESUMO
Motility disorders of the esophagus comprise a heterogeneous spectrum of diseases. Primary malformations of the esophagus are now amenable to improved surgical and gastroenterological therapies; however, they often lead to persistent long-term esophageal dysmotility. Achalasia originates from impaired relaxation of the gastroesophageal sphincter apparatus. Systemic diseases may give rise to secondary disorders of esophageal motility. A number of visceral neuromuscular disorders show an esophageal manifestation but aganglionosis rarely extends into the esophagus. The growing group of myopathies includes metabolic and mitochondrial disorders with increasing levels of genetic characterization and incipient emergence of therapeutic strategies. Esophagitis with an infectious etiology causes severe dysmotility particularly in immunocompromised patients. Immunologically mediated inflammatory processes involving the esophagus are increasingly better understood. Finally, rare tumors and tumor-like lesions may impair esophageal motor function.
Assuntos
Transtornos da Motilidade Esofágica/diagnóstico , Transtornos da Motilidade Esofágica/patologia , Diagnóstico Diferencial , Acalasia Esofágica/diagnóstico , Acalasia Esofágica/etiologia , Acalasia Esofágica/patologia , Acalasia Esofágica/fisiopatologia , Transtornos da Motilidade Esofágica/etiologia , Transtornos da Motilidade Esofágica/fisiopatologia , Esôfago/patologia , Esôfago/fisiopatologia , Humanos , Fatores de RiscoRESUMO
BACKGROUND AND PURPOSE: Development of the CVJ is a complex process rarely analyzed by CT. Cartilaginous remnants within the atlas and axis have been shown to variably persist throughout childhood and may be mistaken for fractures. The purpose of this study was to better estimate the fusion timeline of the synchondroses at the CVJ. MATERIALS AND METHODS: We retrospectively reviewed singular CT scans in 550 children without known skeletal dysplasia or maturation delay (from neonate to 17 years) and analyzed the ossification of atlas and axis. Normal closing age for synchondroses was defined as soon as a complete ossification rate of 80% or more per age category was achieved. RESULTS: No separate OC was observed in 38 of 230 incompletely ossified AAAs, whereas single, bipartite, or multiple OCs were observed in, respectively, 196, 86, and 16 of 298 AAAs in which OCs could be identified. Synchondroses at the AAA closed after 12 years (range 4.5-17 years). Posterior midline synchondrosis of the atlas closed after 4 years (range 2-13 years). The axis ossified from 6 OCs and 4 synchondroses. Subdental and neurocentral synchondroses closed simultaneously after 9 years (range 7-9.5 years). Apicodental synchondrosis and chondrum terminale were completely ossified after 10.5 years (range 5.5-13.5 years). CONCLUSIONS: Analysis of the CVJ using triplanar CT reconstructions allows secure identification of characteristic developmental features of the atlas and axis, and helps to separate normal variants from true osseous lesions.
Assuntos
Envelhecimento/fisiologia , Vértebra Cervical Áxis/diagnóstico por imagem , Vértebra Cervical Áxis/crescimento & desenvolvimento , Atlas Cervical/diagnóstico por imagem , Atlas Cervical/crescimento & desenvolvimento , Osteogênese/fisiologia , Tomografia Computadorizada por Raios X/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
The primary objective of this study was to determine genetic and genomic parameters among swine (Sus scrofa) farrowing traits. Genetic parameters were obtained using MTDFREML. Genomic parameters were obtained using GENSEL. Genetic and residual variances obtained from MTDFREML were used as priors for the Bayes C analysis of GENSEL. Farrowing traits included total number born (TNB), number born alive (NBA), number born dead (NBD), number stillborn (NSB), number of mummies (MUM), litter birth weight (LBW), and average piglet birth weight (ABW). Statistically significant heritabilities included TNB (0.09, P = 0.048), NBA (0.09, P = 0.041), LBW (0.20, P = 0.002), and ABW (0.26, P < 0.0001). Statistically significant genetic correlations included TNB-NBA (0.97, P < 0.0001), TNB-LBW (0.74, P < 0.0001), NBA-LBW (0.56, P < 0.0017), NSB-LBW (0.87, P < 0.0395), and LBW-ABW (0.63, P < 0.0002). Genetic parameters are similar to others found in the literature. The proportion of phenotypic variance explained by genomic markers (GP) generated by GENSEL was TNB (0.04), NBA (0.06), NBD (0.00), NSB (0.01), MUM (0.00), LBW (0.11), and ABW (0.31). Limited information is available in the literature about genomic parameters. Only the GP estimate for NSB is significantly lower than what has been published. The GP estimate for ABW is greater than the estimate for heritability found in this study. Other traits with significant heritability had GP estimates half the value of heritability. This research indicates that significant genetic markers will be found for TNB, NBA, LBW, and ABW that will have either immediate use in industry or provide a roadmap to further research with fine mapping or sequencing of areas of significance. Furthermore, these results indicate that genomic selection implemented at an early age would have similar annual progress as traditional selection, and could be incorporated along with traditional selection procedures to improve genetic progress of litter traits.
Assuntos
Cruzamento/métodos , Variação Genética , Estudo de Associação Genômica Ampla , Parto , Suínos/fisiologia , Animais , Teorema de Bayes , Feminino , Modelos Genéticos , Análise de Sequência com Séries de Oligonucleotídeos , Paridade , Fenótipo , Suínos/genéticaRESUMO
Reproductive efficiency has a great impact on the economic success of pork (sus scrofa) production. Number born alive (NBA) and average piglet birth weight (ABW) contribute greatly to reproductive efficiency. To better understand the underlying genetics of birth traits, a genome-wide association study (GWAS) was undertaken. Samples of DNA were collected and tested using the Illumina PorcineSNP60 BeadChip from 1,152 first parity gilts. Traits included total number born (TNB), NBA, number born dead (NBD), number stillborn (NSB), number of mummies (MUM), total litter birth weight (LBW), and ABW. A total of 41,151 SNP were tested using a Bayesian approach. Beginning with the first 5 SNP on SSC1 and ending with the last 5 SNP on the SSCX, SNP were assigned to groups of 5 consecutive SNP by chromosome-position order and analyzed again using a Bayesian approach. From that analysis, 5-SNP groups were selected having no overlap with another 5-SNP groups and no overlap across chromosomes. These selected 5-SNP non-overlapping groups were defined as QTL. Of the available 8,814 QTL, 124 were found to be statistically significant (P < 0.01). Multiple testing was considered using the probability of false positives. Eleven QTL were found for TNB, 3 on SSC1, 3 on SSC4, 1 on SSC13, 1 on SSC14, 2 on SSC15, and 1 on SSC17. Statistical testing for NBA identified 14 QTL, 4 on SSC1, 1 on SSC4, 1 on SSC6, 1 on SSC10, 1on SSC13, 3 on SSC15, and 3 on SSC17. A single NBD QTL was found on SSC11. No QTL were identified for NSB or MUM. Thirty-three QTL were found for LBW, 3 on SSC1, 1 on SSC2, 1 on SSC3, 5 on SSC4, 2 on SSC5, 5 on SSC6, 3 on SSC7, 2 on SSC9, 1 on SSC10, 2 on SSC14, 6 on SSC15, and 2 on SSC17. A total of 65 QTL were found for ABW, 9 on SSC1, 3 on SSC2, 9 on SSC5, 5 on SSC6, 1 on SSC7, 2 on SSC8, 2 on SSC9, 3 on SSC10, 1 on SSC11, 3 on SSC12, 2 on SSC13, 8 on SSC14, 8 on SSC15, 1 on SSC17, and 8 on SSC18. Several candidate genes have been identified that overlap QTL locations among TNB, NBA, NBD, and ABW. These QTL when combined with information on genes found in the same regions should provide useful information that could be used for marker assisted selection, marker assisted management, or genomic selection applications in commercial pig populations.
Assuntos
Estudo de Associação Genômica Ampla , Parto , Locos de Características Quantitativas , Suínos/fisiologia , Animais , Teorema de Bayes , Feminino , Marcadores Genéticos , Modelos Genéticos , Fenótipo , Suínos/genéticaRESUMO
BACKGROUND AND PURPOSE: Improved knowledge of brain maturation in fetuses and premature neonates is crucial for the early detection of pathologies and would help determine whether MR data from the premature brain might be used to evaluate fetal maturation. Using diffusion-weighted MR imaging and (1)H-MR spectroscopy, we compared cerebral microstructure and metabolism in normal in utero fetuses imaged near term and premature neonates imaged at term equivalent. MATERIALS AND METHODS: Forty-eight subjects were investigated: 24 in utero fetuses (mean gestational age, 37 ± 1 weeks) and 24 premature neonates (mean postconceptional age, 37 ± 1 weeks). ADC values were measured in cerebellum, pons, white matter, brain stem, basal ganglia, and thalamus. MR spectroscopy was performed in deep white matter. RESULTS: Mean ADC values from fetuses and premature neonates were comparable except for the pons and the parietal white matter. ADC values were lower in the pons of premature neonates, whereas greater values were found in their parietal white matter compared with fetuses. Proton MR spectroscopy showed higher levels of NAA/H(2)O, Glx/H(2)O, tCr/H(2)O, and mIns/H(2)O in premature neonates compared with fetuses. CONCLUSIONS: Our study provides evidence of subtle anomalies in the parietal white matter of healthy premature neonates. In addition, the reduced ADC values in the pons together with the increased levels of NAA/H(2)O, tCr/H(2)O, and Glx/H(2)O in the centrum semiovale suggest a more advanced maturation in some white matter regions. Our results indicate that MR data from the premature brain are not appropriate for the assessment of the fetal brain maturation.
Assuntos
Encéfalo/embriologia , Encéfalo/crescimento & desenvolvimento , Maturidade dos Órgãos Fetais , Recém-Nascido Prematuro/crescimento & desenvolvimento , Feto , Idade Gestacional , Humanos , Recém-Nascido , Nascimento a TermoRESUMO
The primary objective of this study was to determine if certain behavior traits were genetically correlated with reproduction. If 1 or both of the behavior traits were found to be correlated, a secondary objective was to determine if the behavior traits could be useful in selecting for more productive females. A scale activity score taken at 5 mo of age and a farrowing disposition score taken at farrowing were selected as the behavioral traits. Scale activity score ranged from 1 to 5 and farrowing disposition ranged from 1 to 3. Reproductive traits included age at puberty, number born alive, number born dead, litter birth weight, average piglet birth weight, number weaned, litter weaning weight, average weaning weight, wean-to-estrus interval, ovulation rate including gilts, and postweaning ovulation rate. Genetic correlations between scale activity score and reproduction ranged from -0.79 to 0.61. Three of the correlations, number born alive (P < 0.01), average piglet birth weight (P < 0.001), and wean-to-estrus interval (P = 0.014), were statistically significant but included both favorable and antagonistic correlations. In contrast, all but 1 of the farrowing disposition correlations was favorable and ranged from -0.66 to 0.67. Although only the correlation with litter birth weight was significant (P = 0.018), the consistent favorable direction of all farrowing disposition correlations, except average weaning weight, shows a potential for inclusion of farrowing disposition into a selection program.
Assuntos
Comportamento Animal , Característica Quantitativa Herdável , Reprodução/genética , Suínos/genética , Animais , Animais Recém-Nascidos , Peso ao Nascer/genética , Feminino , Tamanho da Ninhada de Vivíparos/genética , Modelos Estatísticos , Gravidez , Suínos/psicologiaRESUMO
The identification of predictive DNA markers for pork quality would allow US pork producers and breeders to select genetically superior animals more quickly and efficiently for the production of consistent, high-quality meat. Genome scans have identified QTL for tenderness on SSC 2, which have been fine-mapped to the calpastatin locus. The objectives of this study were to identify the sequence variation in calpastatin that likely affects tenderness in commercial-level pig populations and to develop definitive DNA markers that are predictive of pork tenderness for use in marker-assisted selection programs. We resequenced the calpastatin regulatory and transcribed regions in pigs with divergently extreme shear force values to identify possible mutations that could affect tenderness. A total of 194 SNP were identified in this sequence, and 31 SNP were found in predicted transcription factor binding sites. We tested 131 polymorphisms in our research population and a subset (40) of these in samples of industry pigs for their association with objective measures of tenderness. We identified 4 SNP that were consistently associated with pork tenderness in all the populations studied, representing 2,826 pigs from 4 distinct populations. Gel shift assays were designed for these SNP and 12 other polymorphic sites. Six sites demonstrated a gel shift when probes were incubated with nuclear extract from muscle, heart, or testis. Four of these sites, a specificity protein 1 (Sp1) site around nucleotides 12978 and 12979, a potential thyrotroph embryonic factor (Tef) site at nucleotide 25587, an unknown site at nucleotide 48699, and myocyte enhancer factor-2 (Mef-2)/TATA sites with SNP at positions 49223 and 49228 were allele specific in binding nuclear proteins. The allele frequencies for the tender alleles were similar (0.11 to 0.36) in the 4 different commercial populations. These 4 SNP were not in complete linkage disequilibrium with each other and may independently affect calpastatin expression, tenderness, or both. These markers should be predictive of pork tenderness in industry populations.
Assuntos
Proteínas de Ligação ao Cálcio/genética , Carne/normas , Suínos/genética , Animais , Ensaio de Desvio de Mobilidade Eletroforética/veterinária , Frequência do Gene/genética , Estudos de Associação Genética/veterinária , Marcadores Genéticos/genética , Músculo Esquelético/enzimologia , Polimorfismo de Nucleotídeo Único/genética , Locos de Características QuantitativasRESUMO
BACKGROUND AND PURPOSE: The detection of time-related maturational changes of the olfactory bulb (OB) on MR imaging may help early identification of patients with abnormal OB development and anatomic-based odor-cueing anomalies. MATERIALS AND METHODS: Two separate reviewers retrospectively analyzed coronal T2-weighted spin-echo MR images of the frontobasal region in 121 patients. There were 22 patients who underwent MR imaging examinations several times, accounting for a total of 156 studies. Age range was 1 day to 19.6 years. OBs were bilaterally identified in all cases and categorized according to their shape and signal intensity. RESULTS: Three different anatomic patterns were identified. In pattern 1 (median age, 15 days; age range, 1-168 days), the OBs were round to oval with a continuous external T2-hypointense rim and a prominent T2-hyperintense central area. In pattern 2 (median age, 287 days; age range, 4 days-22 months), the OBs were U shaped, with thinning and concave deformation of the superior layer. A hyperintense central area on T2-weighted images was still visible. In pattern 3 (median age, 5.2 years; age range, 107 days-19.6 years), the OBs were small, round, or J shaped with a more prominent lateral part. No difference in signal intensity between the central area and the peripheral layer was identified anymore. CONCLUSIONS: The OBs show time-related maturational changes on MR imaging. There is a progressive reorganization of the peripheral neuronal layers and signal intensity changes of the central area, which are completed at the end of the second year, paralleling cerebral maturational changes.
Assuntos
Envelhecimento/patologia , Imageamento Tridimensional/métodos , Bulbo Olfatório/anatomia & histologia , Bulbo Olfatório/crescimento & desenvolvimento , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
SUMMARY: Haematopoietic stem cell transplantation is often used as a therapy for patients with certain blood, metabolic or immune system disorders. The United States' National Marrow Donor Program (NMDP) works to facilitate such life-saving transplants by coordinating the donor search and match process. However, concern exists that the NMDP Registry is underutilized and under-representative of racial and ethnic minorities. African-Americans and Hispanics are somewhat under-represented within the total number of donors, and it is estimated that the Registry is used by only approximately one-third of patients needing transplants. The NMDP has instituted programmes that address such concerns, resulting in an increase in both the total number of donors and the minority representation on the Registry. It has also increased efforts to recruit donors of umbilical cord blood, often a viable alternative source of haematopoietic stem cells. Over the past 8 years, the Registry has grown by more than 30% to contain over seven million donors, and the proportional distribution of racial and ethnic groups on the Registry has steadily approached their proportional distribution in the US population. Continued efforts on the part of the NMDP to maintain a Registry that is large in number and ethnically diverse should help ensure access to haematopoietic stem cell transplants for all patients who need them. The procedures and experience of the NMDP and its Registry may have implications for registries elsewhere in the world as they confront similar issues of number and diversity.
Assuntos
Doadores de Sangue , Transplante de Medula Óssea/etnologia , Transplante de Medula Óssea/estatística & dados numéricos , Transplante de Células-Tronco Hematopoéticas/estatística & dados numéricos , Sistema de Registros , Teste de Histocompatibilidade , Humanos , Seleção de Pacientes , Estados UnidosRESUMO
SUMMARY: We present a case of Klippel-Feil syndrome and Sprengel deformity with a bovine aortic arch and an aberrant course of the left subclavian artery in a 14-year-old boy. CT and MR imaging of the neck and upper thorax demonstrated a cervical osseous segmentation anomaly, a left common carotid artery originating from the innominate artery, and a left subclavian artery coursing through the intraspinal space at the C6 through T1 level. Possible embryonic mechanisms and clinical significance of this variant are reviewed.
Assuntos
Aorta Torácica/anormalidades , Vértebras Cervicais/anormalidades , Síndrome de Klippel-Feil/diagnóstico , Imageamento por Ressonância Magnética , Escápula/anormalidades , Artéria Subclávia/anormalidades , Tomografia Computadorizada por Raios X , Adolescente , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/patologia , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/patologia , Humanos , Masculino , Escápula/diagnóstico por imagem , Escápula/patologia , Artéria Subclávia/diagnóstico por imagem , Artéria Subclávia/patologiaRESUMO
PURPOSE: To assess the combined value of diffusion-weighted imaging (DWI) and proton magnetic resonance spectroscopy (1H-MRS) in differentiating medulloblastoma, ependymoma, pilocytic astrocytoma, and infiltrating glioma in a pediatric population. MATERIALS AND METHODS: A total of 17 children with untreated posterior fossa tumors (seven medulloblastoma, four infiltrating glioma, two ependymoma, and four pilocytic astrocytoma), were investigated with conventional MRI, DWI, and MRS using a single-voxel technique. Within the nonnecrotic tumor core, apparent diffusion coefficient (ADC) values using a standardized region of interest (ROI) were retrieved. Quantification of water signal and analysis of metabolite signals from MRS measurements in the same tumorous area were reviewed using multivariant linear discriminant analysis. RESULTS: Combination of ADC values and metabolites, which were normalized using water as an internal standard, allowed discrimination between the four tumor groups with a likelihood below 1 x 10(-9). Positive predictive value was 1 in all cases. Tumors could not be discriminated when using metabolite ratios or ADC values alone, nor could they be differentiated using creatine (Cr) as an internal reference even in combination with ADC values. CONCLUSION: Linear discriminant analysis using DWI and MRS using water as internal reference, fully discriminates the four most frequent posterior fossa tumors in children.
Assuntos
Neoplasias Encefálicas/patologia , Fossa Craniana Posterior/patologia , Imagem de Difusão por Ressonância Magnética , Espectroscopia de Ressonância Magnética/métodos , Adolescente , Astrocitoma/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Análise Discriminante , Ependimoma/patologia , Feminino , Glioma/patologia , Humanos , Lactente , Masculino , Meduloblastoma/patologia , Estudos Retrospectivos , Estatísticas não ParamétricasRESUMO
Diffusion-weighted imaging (DWI) provides information about tissue maturation not seen on conventional magnetic resonance imaging. The aim of this study is to analyze the evolution over time of the apparent diffusion coefficient (ADC) of normal fetal brain in utero. DWI was performed on 78 fetuses, ranging from 23 to 37 gestational weeks (GW). All children showed at follow-up a normal neurological evaluation. ADC values were obtained in the deep white matter (DWM) of the centrum semiovale, the frontal, parietal, occipital and temporal lobe, in the cerebellar hemisphere, the brainstem, the basal ganglia (BG) and the thalamus. Mean ADC values in supratentorial DWM areas (1.68 +/- 0.05 mm(2)/s) were higher compared with the cerebellar hemisphere (1.25 +/- 0.06 mm(2)/s) and lowest in the pons (1.11 +/- 0.05 mm(2)/s). Thalamus and BG showed intermediate values (1.25 +/- 0.04 mm(2)/s). Brainstem, cerebellar hemisphere and thalamus showed a linear negative correlation with gestational age. Supratentorial areas revealed an increase in ADC values, followed by a decrease after the 30th GW. This study provides a normative data set that allows insights in the normal fetal brain maturation in utero, which has not yet been observed in previous studies on premature babies.
Assuntos
Mapeamento Encefálico/métodos , Encéfalo/embriologia , Imagem de Difusão por Ressonância Magnética , Análise de Variância , Feminino , Idade Gestacional , Humanos , Gravidez , Estudos RetrospectivosRESUMO
The correct assessment of the four most frequent infratentorial brain tumors in children (medulloblastoma, ependymoma, pilocytic astrocytoma and infiltrating glioma) has always been problematic. They are known to often resemble one another on conventional magnetic resonance (MR) imaging. We tested the hypothesis whether the combined strength of diffusion-weighted imaging (DWI) and proton MR spectroscopy (MRS) could help differentiate these tumors. Seventeen children with untreated posterior fossa tumors were investigated between January 2005 and January 2006 with conventional MR imaging and combined DWI and MR spectroscopy using a single-voxel technique at short and long echo time (TE) of 30 ms and 135 ms respectively. Apparent diffusion coefficient (ADC) values were retrieved after regions of interest were manually positioned within non necrotic tumor core. Water signal was quantified and metabolite signals were compared and analyzed using linear discriminant analysis. When a combination of ADC values and normalized metabolites was used, all tumors could be discriminated against one other. This could only be achieved when metabolites were normalized using water as an internal standard. They could not be discriminated when using metabolite ratios or ADC values alone, nor could they be differentiated using creatine (Cr) as an internal reference even in combination with ADC values. In conclusion, linear discriminant analysis and multiparametric combination of DWI and MRS, although not replacing histology, fully discriminates the four most frequent posterior fossa tumors in children, but metabolites have to be normalized using water and not Cr signal as an internal reference.
Assuntos
Imagem de Difusão por Ressonância Magnética/métodos , Glioma/diagnóstico , Neoplasias Infratentoriais/diagnóstico , Espectroscopia de Ressonância Magnética/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
A multidiffusion-tensor model (MDT) is presented containing two anisotropic and one isotropic diffusion tensors. This approach has the ability to detect areas of fiber crossings and resolve the direction of crossing fibers. The mean diffusivity and the ratio of the tensor compartments were merged to one independent parameter by fitting MDT to the diffusion-weighted intensities of a two-point data acquisition scheme. By an F-test between the errors of the standard single diffusion tensor and the more complex MDT, fiber crossings were detected and the more accurate model was chosen voxel by voxel. The performance of crossing detection was compared with the spherical harmonics approach in simulations as well as in vivo. Similar results were found in both methods. The MDT model, however, did not only detect crossings but also yielded the single fiber directions. The FACT algorithm and a probabilistic connectivity algorithm were extended to support the MDT model. For example, a mean angular error smaller than 10 degrees was found for the MDT model in a simulated fiber crossing with an SNR of 80. By tracking the corticospinal tract the MDT-based tracks reached a significantly greater area of the gyrus precentralis.
Assuntos
Encéfalo/citologia , Imagem de Difusão por Ressonância Magnética/métodos , Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Fibras Nervosas Mielinizadas/ultraestrutura , Reconhecimento Automatizado de Padrão/métodos , Algoritmos , Anisotropia , Inteligência Artificial , Simulação por Computador , Imagem de Difusão por Ressonância Magnética/instrumentação , Humanos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , TransdutoresRESUMO
We investigated the isotropic diffusion coefficient (D') and fractional anisotropy (FA) in white matter (WM) during brain development, using an optimised diffusion-tensor imaging (DTI) method with whole brain coverage in a clinically acceptable time. We images 52 children with no evident neurological abnormality (30 boys, 22 girls aged 1 day-16 years) using high-angle DTI with optimised temporal gradient performance. D' and FA were calculated in 10 regions of interest in white matter. We saw that the age-related reduction in D' and increase in FA follow a mono- or biexponential model in white matter, probably depending on the compactness and myelination rate of the fibre tracts. In contrast to other areas, in which adult values were reached during the third year, there is a trend to continuous increase in FA in all deep white-matter areas, suggesting continuing maturation and organisation of deep tracts not detected on conventional MRI.
Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/crescimento & desenvolvimento , Desenvolvimento Infantil , Imagem de Difusão por Ressonância Magnética , Adolescente , Anisotropia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Radiografia , Estudos RetrospectivosRESUMO
The objectives of this study were to develop an assay for the direct measure of porcine corticosteroid-binding globulin (pCBG) and to confirm age-related changes in plasma pCBG concentration. Isolation and purification of pCBG from plasma was performed by affinity chromatography and HPLC-DEAE anion exchange techniques. Analysis by SDS-PAGE revealed two polypeptides (54 and 59 kDa) having similar amino acid homology (>50%) to previously reported sequences of seven mammalian species for the first 33 amino acids. Porcine CBG (20 ng/well) was immobilized to microtiter plates and standards or samples added along with rabbit antiserum developed against the purified pCBG. Goat anti-rabbit IgG-alkaline phosphatase conjugate was added followed by p-NPP substrate. The resultant color development was read at 405 nm. Intra- and interassay coefficients of variation (n=26) of a pooled sample were 10 and 15%, respectively. Age-related changes (P<0.001) in plasma pCBG concentration (n=203) from day 3 through 168 of age confirmed that, in the pig, changes seen in the percent distribution of cortisol among protein bound and free forms around day 28 of age are associated with an increase in CBG concentration.
Assuntos
Envelhecimento , Ensaio de Imunoadsorção Enzimática , Suínos/sangue , Transcortina/análise , Sequência de Aminoácidos , Animais , Cromatografia de Afinidade , Cromatografia Líquida de Alta Pressão , Cromatografia por Troca Iônica , Eletroforese em Gel de Poliacrilamida , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Homologia de Sequência , Transcortina/químicaRESUMO
We report three boys in whom a diagnosis of Lhermitte-Duclos disease (LDD) was assumed from characteristic neuroimaging findings. LDD was confirmed by an open biopsy in patient 1, while a biopsy in patient 2 was inconclusive. Histologic confirmation in patient 3 was deliberately not attempted. However, a follow-up observation of stable clinical and neuroimaging findings over 2, 5 and 11 years, respectively, support the diagnosis of LDD. Despite extensive expansion of the lesion with brainstem involvement, clinical signs in two boys were minimal, while one patient has cognitive impairment and a complex oculomotor disturbance. So far we found no evidence for an association with Cowden disease (CD). No germline PTEN mutations were detected in these children, but the amount of available biopsy tissue in patients 1 and 2 was insufficient for a complete genetic analysis of tumor tissue. In conclusion, LDD can usually be diagnosed by MRI. In view of the favourable natural history, a conservative "wait and see" strategy is justified, particularly if radical tumor resection is not possible. LDD is often not associated with CD and germline PTEN mutations seem not to be present in isolated LDD.