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1.
Philos Trans A Math Phys Eng Sci ; 374(2064): 20150050, 2016 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-26903105

RESUMO

Practical temperature measurements in accordance with the international system of units require traceability to the international temperature scales currently in force. Along with the awaited redefinition of the unit of temperature, the kelvin, on the basis of the Boltzmann constant, in future its mise en pratique will allow the use of approved methods of primary thermometry for the realization and dissemination of the kelvin. To support this process, we have developed a DC superconducting quantum interference device-based noise thermometer especially designed for measurements of thermodynamic temperature in a broad temperature range from 5 K down to below 1 mK. In this paper, we describe in detail the primary magnetic field fluctuation thermometer and the underlying model applied for the temperature determination. Experimental measurement results are presented for a comparison with the Provisional Low Temperature Scale 2000 between 0.7 K and 16 mK including an uncertainty budget for the measured thermodynamic temperatures. In this set-up, the relative combined standard uncertainty is equal to 0.6%.

2.
Philos Trans A Math Phys Eng Sci ; 374(2064): 20150054, 2016 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-26903094

RESUMO

The use of low-temperature platforms with base temperatures below 1 K is rapidly expanding, for fundamental science, sensitive instrumentation and new technologies of potentially significant commercial impact. Precise measurement of the thermodynamic temperature of these low-temperature platforms is crucial for their operation. In this paper, we describe a practical and user-friendly primary current-sensing noise thermometer (CSNT) for reliable and traceable thermometry and the dissemination of the new kelvin in this temperature regime. Design considerations of the thermometer are discussed, including the optimization of a thermometer for the temperature range to be measured, noise sources and thermalization. We show the procedure taken to make the thermometer primary and contributions to the uncertainty budget. With standard laboratory instrumentation, a relative uncertainty of 1.53% is obtainable. Initial comparison measurements between a primary CSNT and a superconducting reference device traceable to the PLTS-2000 (Provisional Low Temperature Scale of 2000) are presented between 66 and 208 mK, showing good agreement within the k=1 calculated uncertainty.

3.
Mol Psychiatry ; 18(12): 1281-6, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23164817

RESUMO

Candidate gene and genome-wide association studies have not identified common variants, which are reliably associated with depression. The recent identification of obesity predisposing genes that are highly expressed in the brain raises the possibility of their genetic contribution to depression. As variation in the intron 1 of the fat mass- and obesity-associated (FTO) gene contributes to polygenic obesity, we assessed the possibility that FTO gene may contribute to depression in a cross-sectional multi-ethnic sample of 6561 depression cases and 21,932 controls selected from the EpiDREAM, INTERHEART, DeCC (depression case-control study) and Cohorte Lausannoise (CoLaus) studies. Major depression was defined according to DSM IV diagnostic criteria. Association analyses were performed under the additive genetic model. A meta-analysis of the four studies showed a significant inverse association between the obesity risk FTO rs9939609 A variant and depression (odds ratio=0.92 (0.89, 0.97), P=3 × 10(-4)) adjusted for age, sex, ethnicity/population structure and body-mass index (BMI) with no significant between-study heterogeneity (I(2)=0%, P=0.63). The FTO rs9939609 A variant was also associated with increased BMI in the four studies (ß 0.30 (0.08, 0.51), P=0.0064) adjusted for age, sex and ethnicity/population structure. In conclusion, we provide the first evidence that the FTO rs9939609 A variant may be associated with a lower risk of depression independently of its effect on BMI. This study highlights the potential importance of obesity predisposing genes on depression.


Assuntos
Depressão/genética , Obesidade/genética , Polimorfismo de Nucleotídeo Único/genética , Proteínas/genética , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Transtorno Depressivo Maior/genética , Feminino , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo
4.
Nutr Metab Cardiovasc Dis ; 24(11): 1234-9, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24998078

RESUMO

BACKGROUND AND AIMS: Recent gene-environment interaction studies suggest that diet may influence an individual's genetic predisposition to cardiovascular risk. We evaluated whether omega-3 fatty acid intake may influence the risk for acute coronary syndrome (ACS) conferred by genetic polymorphisms among patients with early onset ACS. METHODS AND RESULTS: Our population consisted of 705 patients of white European descent enrolled in GENESIS-PRAXY, a multicenter cohort study of patients aged 18-55 years and hospitalized with ACS. We used a case-only design to investigate interactions between the omega-3 index (a validated biomarker of omega-3 fatty acid intake) and 30 single nucleotide polymorphisms (SNPs) robustly associated with ACS. We used logistic regression to assess the interaction between each SNP and the omega-3 index. Interaction was also assessed between the omega-3 index and a genetic risk score generated from the 30 SNPs. All models were adjusted for age and sex. An interaction for increased ACS risk was found between carriers of the chromosome 9p21 variant rs4977574 and low omega-3 index (OR 1.57, 95% CI 1.07-2.32, p = 0.02), but this was not significant after correction for multiple testing. Similar results were obtained in the adjusted model (OR 1.55, 95% CI 1.05-2.29, p = 0.03). We did not observe any interaction between the genetic risk score or any of the other SNPs and the omega-3 index. CONCLUSION: Our results suggest that omega-3 fatty acid intake may modify the genetic risk conferred by chromosome 9p21 variation in the development of early onset ACS and requires independent replication.


Assuntos
Síndrome Coronariana Aguda/genética , Ácidos Graxos Ômega-3/administração & dosagem , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Síndrome Coronariana Aguda/epidemiologia , Adolescente , Adulto , Biomarcadores/sangue , Cromossomos Humanos Par 9/genética , Estudos de Coortes , Feminino , Interação Gene-Ambiente , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Fatores de Risco , Adulto Jovem
5.
Nat Genet ; 24(2): 120-5, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10655055

RESUMO

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region of Quebec. We previously mapped the gene responsible for ARSACS to chromosome 13q11 and identified two ancestral haplotypes. Here we report the cloning of this gene, SACS, which encodes the protein sacsin. The ORF of SACS is 11,487 bp and is encoded by a single gigantic exon spanning 12,794 bp. This exon is the largest to be identified in any vertebrate organism. The ORF is conserved in human and mouse. The putative protein contains three large segments with sequence similarity to each other and to the predicted protein of an Arabidopsis thaliana ORF. The presence of heat-shock domains suggests a function for sacsin in chaperone-mediated protein folding. SACS is expressed in a variety of tissues, including the central nervous system. We identified two SACSmutations in ARSACS families that lead to protein truncation, consistent with haplotype analysis.


Assuntos
Ataxia/genética , Cromossomos Humanos Par 13 , Proteínas de Choque Térmico/genética , Mutação , Fases de Leitura Aberta , Degenerações Espinocerebelares/genética , Sequência de Aminoácidos , Animais , Arabidopsis/genética , Sequência de Bases , Mapeamento Cromossômico , Éxons , Proteínas de Choque Térmico/química , Humanos , Desequilíbrio de Ligação , Camundongos , Dados de Sequência Molecular , Prevalência , Quebeque/epidemiologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos
6.
Stat Med ; 29(12): 1298-311, 2010 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-20209660

RESUMO

Genetic markers can be used as instrumental variables, in an analogous way to randomization in a clinical trial, to estimate the causal relationship between a phenotype and an outcome variable. Our purpose is to extend the existing methods for such Mendelian randomization studies to the context of multiple genetic markers measured in multiple studies, based on the analysis of individual participant data. First, for a single genetic marker in one study, we show that the usual ratio of coefficients approach can be reformulated as a regression with heterogeneous error in the explanatory variable. This can be implemented using a Bayesian approach, which is next extended to include multiple genetic markers. We then propose a hierarchical model for undertaking a meta-analysis of multiple studies, in which it is not necessary that the same genetic markers are measured in each study. This provides an overall estimate of the causal relationship between the phenotype and the outcome, and an assessment of its heterogeneity across studies. As an example, we estimate the causal relationship of blood concentrations of C-reactive protein on fibrinogen levels using data from 11 studies. These methods provide a flexible framework for efficient estimation of causal relationships derived from multiple studies. Issues discussed include weak instrument bias, analysis of binary outcome data such as disease risk, missing genetic data, and the use of haplotypes.


Assuntos
Teorema de Bayes , Metanálise como Assunto , Bioestatística , Proteína C-Reativa/genética , Proteína C-Reativa/metabolismo , Fibrinogênio/metabolismo , Marcadores Genéticos , Humanos , Modelos Estatísticos , Fenótipo , Polimorfismo de Nucleotídeo Único
7.
Clin Genet ; 75(1): 19-29, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19054015

RESUMO

High levels of plasma low-density lipoprotein cholesterol (LDL-C) are a significant risk factor for heart disease. Statins (3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitors) have been extensively used to treat high-plasma LDL-C levels and are effective in preventing heart disease. However, statins can be associated with adverse side effects in some patients and do not work effectively in others. As an alternative to statins, the development of cholesterol-lowering agents that directly inhibit squalene synthase have shown promise. Clinical studies have shown that squalene synthase inhibitors are effective in lowering plasma levels of total cholesterol and LDL-C. Squalene synthase plays an important role in the cholesterol biosynthesis pathway as it is responsible for the flow of metabolites into either the sterol or the non-sterol branches of the pathway. In addition, variants of the squalene synthase gene appear to modulate plasma cholesterol levels in human populations and therefore may be linked to cardiovascular disease. In this review, we examine squalene synthase and the gene that codes for it (farnesyldiphosphate farnesyltransferase 1). In particular, we investigate their role in the regulation of cellular and plasma cholesterol levels, including data that suggest that squalene synthase may be involved in the etiology of hypercholesterolemia.


Assuntos
Colesterol/biossíntese , Farnesil-Difosfato Farnesiltransferase/metabolismo , Animais , Colesterol/sangue , Inibidores Enzimáticos/uso terapêutico , Farnesil-Difosfato Farnesiltransferase/antagonistas & inibidores , Farnesil-Difosfato Farnesiltransferase/genética , Variação Genética , Humanos , Hipercolesterolemia/tratamento farmacológico , Hipercolesterolemia/enzimologia , Hipercolesterolemia/genética , Desequilíbrio de Ligação , Fenótipo
8.
J Cell Biol ; 135(2): 431-40, 1996 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8896599

RESUMO

The insulin-like growth factors (IGFs) have dramatic and complex effects on the growth of many tissues and have been implicated in both the proliferation and differentiation of skeletal muscle cells. A detailed analysis of gene expression was performed in L6E9 myoblast cultures treated with IGF-I to dissect the early events leading to the stimulation of myogenic differentiation by this growth factor. A time course of transcript accumulation in confluent L6E9 myoblasts treated with defined media containing IGF-I revealed an initial transient decrease in myogenic factors, accompanied by an increase in cell cycle markers and cell proliferation. This pattern was reversed at later time points, when the subsequent activation of myogenic factors resulted in a net increase in structural gene expression and larger myotubes. The data presented here support the hypothesis that IGF-I activates proliferation first, and subsequently stimulates events leading to the expression of muscle-specific genes in myogenic cell cultures.


Assuntos
Diferenciação Celular , Divisão Celular , Fator de Crescimento Insulin-Like I/farmacologia , Músculo Esquelético/citologia , Animais , Linhagem Celular , Cloranfenicol O-Acetiltransferase/biossíntese , Elementos Facilitadores Genéticos , Expressão Gênica , Regulação da Expressão Gênica , Genes Reporter , Músculo Esquelético/efeitos dos fármacos , Músculo Esquelético/metabolismo , Miogenina/biossíntese , Cadeias Leves de Miosina/genética , Ratos , Proteínas Recombinantes/biossíntese , Fatores de Tempo , Transfecção
9.
Circulation ; 103(9): 1198-205, 2001 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-11238261

RESUMO

BACKGROUND: Low plasma HDL cholesterol (HDL-C) is associated with an increased risk of coronary artery disease (CAD). We recently identified the ATP-binding cassette transporter 1 (ABCA1) as the major gene underlying the HDL deficiency associated with reduced cholesterol efflux. Mutations within the ABCA1 gene are associated with decreased HDL-C, increased triglycerides, and an increased risk of CAD. However, the extent to which common variation within this gene influences plasma lipid levels and CAD in the general population is unknown. METHODS AND RESULTS: We examined the phenotypic effects of single nucleotide polymorphisms in the coding region of ABCA1. The R219K variant has a carrier frequency of 46% in Europeans. Carriers have a reduced severity of CAD, decreased focal (minimum obstruction diameter 1.81+/-0.35 versus 1.73+/-0.35 mm in noncarriers, P:=0.001) and diffuse atherosclerosis (mean segment diameter 2.77+/-0.37 versus 2.70+/-0.37 mm, P:=0.005), and fewer coronary events (50% versus 59%, P:=0.02). Atherosclerosis progresses more slowly in carriers of R219K than in noncarriers. Carriers have decreased triglyceride levels (1.42+/-0.49 versus 1.84+/-0.77 mmol/L, P:=0.001) and a trend toward increased HDL-C (0.91+/-0.22 versus 0.88+/-0.20 mmol/L, P:=0.12). Other single nucleotide polymorphisms in the coding region had milder effects on plasma lipids and atherosclerosis. CONCLUSIONS: These data suggest that common variation in ABCA1 significantly influences plasma lipid levels and the severity of CAD.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Doença das Coronárias/genética , Lipoproteínas/metabolismo , Transportador 1 de Cassete de Ligação de ATP , Adulto , Fatores Etários , Idoso , Substituição de Aminoácidos , Índice de Massa Corporal , HDL-Colesterol/metabolismo , Estudos de Coortes , Doença das Coronárias/patologia , Frequência do Gene , Variação Genética , Genótipo , Humanos , Lipídeos/sangue , Lipoproteínas/sangue , Pessoa de Meia-Idade , Fenótipo , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Índice de Gravidade de Doença , Análise de Sobrevida , Triglicerídeos/sangue
10.
J Clin Oncol ; 19(7): 1951-60, 2001 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-11283127

RESUMO

PURPOSE: To evaluate therapeutic options for recurrent malignant sacrococcygeal germ cell tumors (GCT) following three-agent, cisplatinum-based, first-line chemotherapy and tumor resection. PATIENTS AND METHODS: Twenty-two patients were evaluated in 22 first-, 14 second-, five third-, and two fourth-relapse situations. One patient, who relapsed with pure teratoma, was excluded from the analysis of adjuvant treatment. RESULTS: Seventeen patients presented with an isolated local recurrence, two patients showed a distant relapse, and three patients suffered from a combined local and distant recurrence. Twelve patients achieved complete remission (CR) after surgery (n = 12) and adjuvant platinum chemotherapy (n = 10). Seven of these patients remain in continuous CR, and five patients relapsed. All patients who achieved only a partial remission developed a second relapse. Three of 14 patients could be cured after a second (or further) relapse. Altogether, 10 patients survived disease free, and 12 patients died as a result of tumor progression (n = 11) or therapy-related complications (n = 1). The completeness of salvage surgery and clinical remission status after first salvage treatment were the most important prognostic parameters. In addition, patients in first or second relapse with locally advanced or poorly responding tumors benefited from preoperative chemotherapy in combination with regional hyperthermia (RHT). In some patients after microscopically incomplete resection, irradiation at doses > 45 Gy contributed to a favorable outcome. CONCLUSION: The complete resection of the local recurrence represents the cornerstone of salvage treatment. Preoperative platinum-based chemotherapy, combined with RHT in some patients, facilitates complete tumor resection. Radiotherapy should be reserved for those patients with microscopically incomplete tumor resection. As the chance of cure decreases with further relapses, it is important to establish a stringent therapeutic strategy to avoid significant treatment delays and, most importantly, insufficient local therapy.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Recidiva Local de Neoplasia/terapia , Neoplasias Embrionárias de Células Germinativas/terapia , Terapia de Salvação/métodos , Análise Atuarial , Algoritmos , Criança , Cisplatino/administração & dosagem , Terapia Combinada , Seguimentos , Alemanha/epidemiologia , Humanos , Recém-Nascido , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/cirurgia , Neoplasias Embrionárias de Células Germinativas/tratamento farmacológico , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias Embrionárias de Células Germinativas/cirurgia , Prognóstico , Radioterapia , Região Sacrococcígea , Estatísticas não Paramétricas
11.
Transl Psychiatry ; 5: e618, 2015 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-26261886

RESUMO

The positive association between depression and type 2 diabetes (T2D) has been controversial, and little is known about the molecular determinants linking these disorders. Here we investigated the association between T2D and depression at the clinical and genetic level in a multiethnic cohort. We studied 17,404 individuals from EpiDREAM (3209 depression cases and 14,195 controls) who were at risk for T2D and had both phenotypic and genotypic information available at baseline. The glycemic status was determined using the 2003 American Diabetes Association criteria and an oral glucose tolerance test. Major depressive episode during the previous 12 months was diagnosed using the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition diagnostic criteria. Twenty single-nucleotide polymorphisms (SNPs) previously associated with T2D were genotyped using the cardiovascular gene-centric 50-K SNP array and were analyzed separately and in combination using an unweighted genotype score (GS). Multivariate logistic regression models adjusted for age, sex, ethnicity and body mass index were performed. Newly diagnosed impaired fasting glucose (IFG)/impaired glucose tolerance (IGT), T2D and dysglycemia status were not associated with major depression (0.30 ⩽ P ⩽ 0.65). Twelve out of twenty SNPs and the GS were associated with IFG/IGT, T2D and/or dysglycemia status (6.0 × 10(-35) ⩽ P ⩽ 0.048). In contrast, the 20 SNPs and GS were not associated with depression (P ⩾ 0.09). Our cross-sectional data do not support an association between T2D and depression at the clinical and genetic level in a multiethnic population at risk for T2D.


Assuntos
Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/genética , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Etnicidade/psicologia , Etnicidade/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Glicemia/genética , Estudos de Coortes , Comorbidade , Estudos Transversais , Transtorno Depressivo Maior/psicologia , Diabetes Mellitus Tipo 2/psicologia , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Adulto Jovem
12.
Genet Test ; 5(3): 255-9, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11788093

RESUMO

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS; MIM SACS 270550) is frequent in northeastern Québec. Two causal mutations have been identified in the 11.7-kb single exon sacsin gene by sequence-based analyses. Mutation g.6594delT (DeltaT) was reported in 96% of the patients whereas a g.5254C --> T nonsense mutation has been observed only in 2 families. Here we report a reliable and inexpensive method to detect more than 95% of the ARSACS disease alleles from northeastern Québec using allele-specific oligonucleotide (ASO) hybridization. This procedure is being incorporated into the diagnosis of ARSACS, as well as being used for carrier detection in at-risk families from northeastern Québec.


Assuntos
Análise Mutacional de DNA , Proteínas de Choque Térmico/genética , Degenerações Espinocerebelares/genética , Alelos , DNA/sangue , Humanos , Sondas de Oligonucleotídeos , Reação em Cadeia da Polimerase , Quebeque , Degenerações Espinocerebelares/diagnóstico
13.
Eur J Pediatr Surg ; 2(6): 361-4, 1992 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1477066

RESUMO

Increased resistance in the pulmonary vessels in children with ventriculo-atrial shunts is a rare and often unrecognized permanent complication. We report 2 children in whom this diagnosis was detected by two-dimensional echocardiography. The first patient received a ventriculo-atrial shunt at age 9 days for congenital internal hydrocephalus. At 17 months it had to be replaced because of infection of the efferent catheter limb. At 22 months at a routine follow-up the echocardiographic diagnosis of pulmonary hypertension was made. Invasive studies confirmed the presence of irreversible increased resistance in the pulmonary circulation. The second patient received a ventriculo-atrial shunt at age 13 months because of a cerebral cyst. After repeated catheter infections, at 28 months a ventriculo-peritoneal shunt was placed. At age 4 years the diagnosis of pulmonary hypertension was made by routine echocardiography. This finding was confirmed by invasive studies. The left pulmonary artery was completely occluded. Both patients had developed microemboli, caused or aggravated by catheter sepsis, in the second case probably through contiguous clot growth up to complete occlusion of the left pulmonary artery. Therapeutic measures seemed not to be indicated. Two-dimensional echocardiography proved to be a reliable method for diagnosing increased resistance and pulmonary hypertension. We recommend routine echocardiography for follow-up in all children with ventriculo-atrial shunts.


Assuntos
Derivações do Líquido Cefalorraquidiano/efeitos adversos , Ecocardiografia , Hidrocefalia/cirurgia , Hipertensão Pulmonar/diagnóstico por imagem , Humanos , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/fisiopatologia , Lactente , Recém-Nascido , Circulação Pulmonar , Resistência Vascular
14.
Eur J Pediatr Surg ; 10(3): 201-3, 2000 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10982053

RESUMO

Duodenal duplications are rare congenital malformations with variable and non-specific symptoms. A spherical duodenal duplication associated with a pancreatic pseudocyst causing an acute bleeding due to a vascular erosion in a 16-month old child is presented. The possibility of a causal relationship between duodenal duplication and pancreatic pseudocyst is discussed.


Assuntos
Ducto Colédoco/anormalidades , Duodeno/anormalidades , Hemorragia Gastrointestinal/etiologia , Ductos Pancreáticos/anormalidades , Pseudocisto Pancreático/etiologia , Feminino , Hemorragia Gastrointestinal/diagnóstico , Humanos , Lactente , Pseudocisto Pancreático/diagnóstico , Pseudocisto Pancreático/cirurgia
15.
Eur J Pediatr Surg ; 14(2): 126-9, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15185162

RESUMO

Ectopic umbilical pancreatic tissue is extremely rare. We report on a case of a two-year-old boy who suffered from a large recurrent supraumbilical tumour with central cystic degeneration. Ectopic pancreatic tissue was located within the submucosal layer of an umbilical rest of the omphaloenteric duct. Peptic erosion and inflammatory alteration of tissue surrounding the umbilical vein caused recurrent bleeding and formation of a pseudocyst as well as chronical inflammatory granulations within the abdominal wall.


Assuntos
Coristoma , Pâncreas , Pseudocisto Pancreático/etiologia , Humanos , Lactente , Laparotomia , Masculino , Pseudocisto Pancreático/cirurgia , Umbigo
16.
Eur J Pediatr Surg ; 9(2): 67-74, 1999 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10342112

RESUMO

Hypoganglionosis of the myenteric plexus of the colon is not clearly defined and seldom investigated. Colon segments from 15 children with an extended oligoeuronal hypoganglionosis up to the proximal resection end were morphometrically studied and compared to normally innervated colon segments. The study was performed with resected specimens from 7 children with isolated hypoganglionoses, 8 children with a Hirschsprung-associated hypoganglionosis, and 12 colon segments with normal innervation. The resected colon specimens were caudo-cranial coiled. The native tissue was frozen at -80 degrees C on a cryostat carrier and cut at -20 degrees C in 15 microns-thick sections (equivalent to 4-5-micron-thick paraffin sections). The air-dried sections underwent an enzyme-histochemical procedure for an acetylcholinesterase reaction to stain the parasympathetically innervated myenteric plexus. For histological identification and morphometric measurements, ganglia and nerve cells were selectively stained using a lactic dehydrogenase reaction. The morphometric measurements were performed with an optic-electronic image analysis system that determined ganglion size, ganglion distances, nerve cell number per ganglion, and ganglion number per mm colon. The results showed that hypoganglionosis of the myenteric plexus is characterised by a 42% decrease in plexus area and a 55% decrease of the nerve cell number per mm length of colon. The number and area of myenteric ganglia showed a decrease of 59% and a doubling of the ganglion distances. The histopathological diagnosis of a hypoganglionosis of the colon was not necessarily an indication of a chronic constipation, but rather an indication of a disposition for constipation. A chronic constipation is often caused by a long hypoganglionic segment proximal to a resected short Hirschsprung segment.


Assuntos
Colo/inervação , Doença de Hirschsprung/patologia , Plexo Mientérico/patologia , Contagem de Células , Criança , Pré-Escolar , Colo/patologia , Feminino , Secções Congeladas , Gânglios Autônomos/patologia , Humanos , Masculino , Neurônios/patologia
17.
Chirurg ; 50(10): 631-5, 1979 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-510062

RESUMO

Pseudarthrosis of the clavicula in childhood is rare. Beside the congenital forms, especially dysplasia of the skeleton, the cause of acquired pseudarthrosis is often the complete or partial lack of immobilization and poorly performed or not indicated osteosynthesis. Basically firm osteosynthesis with small DC-plates is the therapy indicated, but because of atrophic or short fragments, great defects, or if the relevant parts of the skeleton are too short, a compromise is often necessary, especially for the sake of strength. The autologeous spongiosaplastic, corticospongio bone parts, which strengthen the osteosynthesis procedure, if involved, are basic to undisturbed healing.


Assuntos
Clavícula/cirurgia , Pseudoartrose/cirurgia , Criança , Pré-Escolar , Feminino , Fixação Interna de Fraturas , Fraturas Ósseas/complicações , Humanos , Lactente , Masculino , Pseudoartrose/etiologia , Recidiva
20.
Artigo em Alemão | MEDLINE | ID: mdl-1983661

RESUMO

Thoracic surgical emergencies in early childhood refer mainly to congenital malformation. To enable a successful treatment, disclosing of provable malformations by prenatal ultrasound screening and gradual sonographic diagnostics are necessary. Management of thoracic emergency situations should take place within an interdisciplinary team. Progress can only be expected by improved ultrasonographic examinations, planning of dilivery, intrapartum management, post partal differentiated diagnostic and therapy. As those prerequisits are not provided everywhere, medical care of those newborns effected in qualified centers is to be recommended.


Assuntos
Anormalidades Múltiplas/cirurgia , Emergências , Tórax/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Gravidez , Ultrassonografia Pré-Natal
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