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1.
Int J Surg Case Rep ; 4(5): 511-4, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23567544

RESUMO

INTRODUCTION: We report an extremely rare and challenging combination of congenital anomalies. Only five similar cases have been described in the English language medical literature to date. PRESENTATION OF CASE: A male infant was born at 30(+5) weeks gestation by emergency caesarian section. Cervical spine rachischisis, shortened oesophagus, intrathoracic stomach, atretic duodenum and absent spleen were noted, in addition to respiratory insufficiency. Gastrointestinal re-anastomosis, particularly oesophageal lengthening, was not feasible at the initial thoracotomy. Surgical stabilization of the cervical spine was unlikely to be successful until two years of age. Asplenia predisposed the infant to sepsis from encapsulated organisms, and recurrent respiratory infections occurred. DISCUSSION: A close relationship exists between the upper gastrointestinal tract and cervical spine during embryonic development. An embryonic aberration at this level could account for all the deformities present in this infant. Tethering of the embryonic cervical oesophagus to the somites in the first trimester, preventing foregut elongation, and producing ischaemia at the coeliac axis, is suggested as the aetiology. CONCLUSION: This case presented a challenge to the multi-disciplinary team involved in his management and prompted extensive consultation with international experts. After considerable counseling of the parents, care was directed towards palliation.

2.
Eur Respir J ; 37(3): 523-31, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20634264

RESUMO

A substantial body of evidence suggests an aetiological role of inflammation, and oxidative and nitrosative stress in asthma pathogenesis. Exhaled nitric oxide fraction (F(eNO)) may provide a noninvasive marker of oxidative and nitrosative stress, and aspects of airway inflammation. We examined whether children with elevated F(eNO) are at increased risk for new-onset asthma. We prospectively followed 2,206 asthma-free children (age 7-10 yrs) who participated in the Children's Health Study. We measured F(eNO) and followed these children for 3 yrs to ascertain incident asthma cases. Cox proportional hazard models were fitted to examine the association between F(eNO) and new-onset asthma. We found that F(eNO) was associated with increased risk of new-onset asthma. Children in the highest F(eNO) quartile had more than a two-fold increased risk of new-onset asthma compared to those with the lowest quartile (hazard ratio 2.1, 95% CI 1.3-3.5). This effect did not vary with the child's history of respiratory allergic symptoms. However, the effect of elevated F(eNO) on new-onset asthma was most apparent among those without a parental history of asthma. Our results indicate that children with elevated F(eNO) are at increased risk for new-onset asthma, especially if they have no parental history of asthma.


Assuntos
Asma/etiologia , Asma/metabolismo , Hipersensibilidade Imediata , Óxido Nítrico/metabolismo , Sons Respiratórios/diagnóstico , Criança , Estudos de Coortes , Expiração , Feminino , Humanos , Inflamação , Masculino , Óxido Nítrico/química , Estresse Oxidativo , Modelos de Riscos Proporcionais , Classe Social , Inquéritos e Questionários
3.
Br J Neurosurg ; 21(2): 204-9, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17453790

RESUMO

Microdialysis enables the chemistry of extracellular fluid in body tissues to be measured. Extracellular proteases such as the cysteine protease, cathepsin S (CatS), are thought to facilitate astrocytoma invasion. Microdialysates obtained from human brain tumours in vivo were subjected to cathepsin S activity and ELISA assays. Cathepsin S ELISA expression was detected in five out of 10 tumour microdialysates, while activity was detected in five out of 11 tumour microdialysates. Cathepsin S expression was also detected in microdialysate from the normal brain control although no activity was found in the same sample. While some refinements to the technique are necessary, the authors demonstrate the feasibility and safety of microdialysis in human astrocytomas in vivo. Characterisation of the extracellular environment of brain tumours in vivo using microdialysis may be a useful tool to identify the protease profile of brain tumours.


Assuntos
Astrocitoma/enzimologia , Neoplasias Encefálicas/enzimologia , Catepsinas/metabolismo , Microdiálise/métodos , Proteínas de Neoplasias/metabolismo , Catepsinas/análise , Ensaio de Imunoadsorção Enzimática , Humanos , Imuno-Histoquímica , Proteínas de Neoplasias/análise , Projetos Piloto
4.
Br J Neurosurg ; 18(6): 635-7, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15799201

RESUMO

A case of sphenoid wing meningioma mimicking the presentation of a transient ischaemic attack (TIA) is described. Based on findings from neuroimaging in this case, possible explanations of the mechanism of this uncommon presentation of meningiomas are discussed and the literature is reviewed.


Assuntos
Ataque Isquêmico Transitório/etiologia , Neoplasias Meníngeas/complicações , Meningioma/complicações , Idoso , Feminino , Humanos , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X
6.
Br J Neurosurg ; 15(6): 518-20, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11814006

RESUMO

Patients who undergo decompressive craniectomy for intracranial hypertension often require interval cranioplasty. Many cranioplasty agents are currently in use. The authors suggest that storage of the patient's own bone flap in the subcutaneous tissue of the abdominal wall, is a safe, efficacious and cost-effective alternative to use of synthetic cranioplasty materials.


Assuntos
Músculos Abdominais , Transplante Ósseo/métodos , Edema Encefálico/cirurgia , Craniotomia/métodos , Retalhos Cirúrgicos , Preservação de Tecido/métodos , Descompressão Cirúrgica/métodos , Humanos , Reoperação/métodos
7.
J Med Genet ; 37(7): 498-500, 2000 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10882751

RESUMO

Genetic and environmental factors play roles in the aetiology of ruptured intracranial aneurysms. Hypertension has been reported as a risk factor for intracranial aneurysm haemorrhage. We have tested if genotypes at the angiotensin converting enzyme (ACE) gene locus are associated with ruptured intracranial aneurysms. The insertion/deletion polymorphism in the ACE gene was genotyped in 258 subjects presenting in East Anglia with ruptured intracranial aneurysms (confirmed at surgery or angiographically) and 299 controls from the same region. ACE allele frequencies were significantly different in the cases and the controls (alleles chi(2)(1)=4.67, p=0.03). The I allele was associated with aneurysm risk (odds ratio for I allele v D allele = 1.3 (95% CI=1.02-1-65); odds ratio for II v DD genotype = 1.67 (95% CI=1.04-2.66)). The I allele at the ACE locus is over-represented in subjects with ruptured intracranial aneurysms. These data are supported by non-significant trends in the same direction in two previous smaller studies. Thus, this allele may be associated with risk for ruptured intracranial aneurysms.


Assuntos
Aneurisma Roto/genética , Aneurisma Intracraniano/genética , Peptidil Dipeptidase A/genética , Adulto , Idoso , Alelos , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Fatores de Risco
8.
Childs Nerv Syst ; 16(10-11): 619-26, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11151710

RESUMO

This review evaluates the contribution of prenatal diagnosis to the understanding of intracranial cysts. We describe the outcome of 54 fetuses in which prenatal investigations indicated the presence of such lesions. The cysts were diagnosed between 20 and 30 weeks of gestation. Most (63%) were supratentorial and interhemispheric. There was only a single sylvian cyst. In the infratentorial compartment, median retrocerebellar cysts were predominant. Incisural cysts accounted for 14.8% of the series. Nine pregnancies were interrupted because of the presence of associated brain disorders. Forty-five children are alive. Thirty-four had neuropsychological tests. Cysts rarely progressed, most frequently stabilized and often regressed postnatally. Hydrocephalus was rare. In two cases delivery was precipitated at 36 weeks to allow urgent treatment of rapidly evolving cysts. Thirteen children (28.2%) were treated postnatally, in general for developing cysts. The median follow-up for the whole series exceeds 4 years. Behavior, neurological development, and intelligence are normal in 88% of the cases, and 91% have a normal neurological status. Prognosis at the time of the prenatal consultation was correct in 89% of the cases. We emphasize the value of prenatal magnetic resonance imaging and karyotype studies to limit risks of incorrect prognosis.


Assuntos
Encefalopatias/congênito , Encéfalo/anormalidades , Cistos/congênito , Diagnóstico Pré-Natal , Encéfalo/patologia , Encefalopatias/diagnóstico , Cistos/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Inteligência , Gravidez , Prognóstico
11.
Clin Chim Acta ; 176(3): 315-32, 1988 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-3180481

RESUMO

We have optimized Ellman-type plasma and erythrocyte cholinesterase assays for the field determination of pesticide exposure. The assays employ stable, premixed, inexpensive colorimetric reagents and a simplified kinetic measurement procedure using a novel battery-operable light-emitting-diode-source colorimeter (LEDSC). These methods were compared to a field tintometric method for cholinesterase currently in widespread use, using samples from organophosphate-intoxicated hospitalized patients. In comparison to the colorimetric method, the tintometric method was less precise and consistently underestimated the extent of pesticide exposure. Methods for the effective field determination of pesticide exposure using cholinesterase assays are critically evaluated with regard to their practical, biochemical, and medical relevance.


Assuntos
Colinesterases/sangue , Eritrócitos/enzimologia , Praguicidas/efeitos adversos , Exposição Ambiental , Hemoglobinas/análise , Humanos , Métodos , Oxiemoglobinas/análise
12.
Clin Chem ; 33(10): 1731-5, 1987 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-3665026

RESUMO

We describe here a field method we developed for colorimetry of erythrocytic acetylcholinesterase (EC 3.1.1.7) in capillary blood samples. Three stable, premixed assay reagents and de-ionized water (but no centrifuge or balance) are required. This method, adapted for a microplate format, is essentially that of Ellman et al. (Biochem Pharmacol 1961;7:88-95) as modified by George and Abernethy (Clin Chem 1983;29:365-8). Assays were quantified and corrected for hematocrit by using a battery-powered colorimeter with a silicon carbide (blue) light-emitting-diode source. Advantages over existing field methods include better portability, ruggedness, greater precision, and lower cost per sample.


Assuntos
Acetilcolinesterase/sangue , Eritrócitos/enzimologia , Kit de Reagentes para Diagnóstico , Adolescente , Adulto , Colorimetria , Feminino , Humanos , Inseticidas/intoxicação , Masculino , Métodos , Compostos Organofosforados
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