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1.
Orthopade ; 41(10): 802-19, 2012 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-23052847

RESUMO

Instrumented 3-dimensional gait analysis is increasingly being used for the evaluation of movement disorders in orthopedic and neurological musculoskeletal diseases. Due to the high reliability of the measurements the procedures are appropriate for diagnostic purposes as well as for outcome assessment after conservative or surgical interventions. Contrary to conventional clinical assessments gait analysis parameters are able to demonstrate a normal physiological gait pattern that can be achieved with improved kinematic and kinetic parameters. For a suitable application in clinically relevant problems the limitations of the procedures should be taken into account. Due to the high instrumental involvement combined with time and cost expenditure instrumented gait analysis will probably not develop to a clinical routine procedure. Nevertheless, an excellent set of information for answering clinical questions is provided. The present contribution presents selected measurement procedures and technologies and illustrates the wide variety of possibilities with the use of selected clinical examples.


Assuntos
Actigrafia/instrumentação , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/fisiopatologia , Monitorização Ambulatorial/instrumentação , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/fisiopatologia , Desenho de Equipamento , Humanos
2.
BMJ Qual Saf ; 20(2): 115-20, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21216791

RESUMO

BACKGROUND: Medical Emergency Teams (MET)/rapid response are replacing Cardiac Arrest teams in acute hospitals. There is a lack of knowledge about how Critical Care Nurses (CCNs), rostered on MET construct their responsibilities/roles. OBJECTIVE: Assess MET nurse activities at different hospitals. METHODS: The authors used visual ethnography; selecting Systemic Functional Grammar as our methodological framework. The Generic Systemic Potential was used to guide the coding of visual and inferential meaning of the activities of MET nurses. CCNs coded over 6 of videoed MET calls, sampled across three hospitals, Sydney, Australia. RESULTS: The first layer of coding contained 1042 discreet tasks. They were sorted into 15 Areas of Practice (AOPs) and then allocated to aspects of performance (psychomotor and cognitive). The AOPs 'Assisting with Procedure' through to 'Monitoring Vital Signs' reflect psychomotor skills which account for almost half (48%) of the AOPs at site 1 and three-quarters at sites 2 (70%) and 3 (78%). Eight generic responsibilities/roles were identified. 'Ongoing Assessment,' 'Re-evaluating Risk' and 'Prioritising Interventions' were the most prominent. The patterns differed by hospital: 'Re-evaluating Risk' was prominent for sites 1 and 2 but less so for site 3. CONCLUSION: 'Ongoing Assessment' and 'Re-evaluating Risk' occupied almost half of the MET nurses time, whereas 'Establishing Patient Acuity, the key activity in CA teams, occupied only 4%. These findings provide evidence of the roles of CCNs in the MET and suggest that education and training of MET nurses should support these roles.


Assuntos
Reanimação Cardiopulmonar , Cuidados Críticos/organização & administração , Equipe de Respostas Rápidas de Hospitais , Papel do Profissional de Enfermagem , Recursos Humanos de Enfermagem Hospitalar , Parada Cardíaca/terapia , Humanos , New South Wales , Gravação de Videoteipe
3.
Mutat Res ; 637(1-2): 73-9, 2008 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-17767940

RESUMO

The 4977bp deletion of mitochondrial DNA (mtDNA) is known to accumulate with increasing age in post mitotic tissues. Recently, studies came out detecting this specific alteration also in fast replicating cells, e.g. in blood or skin tissue, often in correlation to specific diseases or -- specifically in skin -- external stressors such as UV radiation. In this study, we investigated mitochondrial mutagenesis in 69 patients with a chronic alcoholic disease and 46 age matched controls with a moderate drinking behavior. Two different fragments, specific for total and for deleted mtDNA (dmtDNA) were amplified in a duplex-PCR. A subsequent fragment analysis was performed and for relative quantification, the quotient of the peak areas of amplification products specific for deleted and total mtDNA was determined. Additionally, a real time PCR was performed to quantify mtDNA copy number. The relative amount of 4977bp deleted mtDNA in alcoholics was significantly increased compared to controls. On the other hand, no difference regarding the mtDNA/nuclear DNA ratio in both investigated groups was detected. Additionally, no age dependence could be found nor in alcoholics, neither in the control group. These findings indicate that mtDNA mutagenesis in blood can be influenced by stressors such as alcohol. Ethanol seems to be a significant factor to alter mitochondrial DNA in blood and might be an additional contributor for the cellular aging process.


Assuntos
Alcoolismo/sangue , Alcoolismo/genética , DNA Mitocondrial/sangue , Mutagênese , Adulto , Fatores Etários , Consumo de Bebidas Alcoólicas/sangue , Consumo de Bebidas Alcoólicas/genética , Dosagem de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Deleção de Sequência
4.
Ned Tijdschr Geneeskd ; 151(12): 695, 2007 Mar 24.
Artigo em Holandês | MEDLINE | ID: mdl-17447596

RESUMO

A 75-year-old woman was unsuccessfully resuscitated. Post-mortem investigation showed pulmonary bone marrow embolism secondary to a sternum fracture probably caused by the external cardiac massage.


Assuntos
Embolia/etiologia , Fraturas Ósseas/complicações , Fraturas Ósseas/etiologia , Ressuscitação/efeitos adversos , Esterno/lesões , Idoso , Evolução Fatal , Feminino , Humanos , Falha de Tratamento
5.
Int J Legal Med ; 120(5): 282-5, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16604363

RESUMO

In a mother-child pair, false exclusions in markers on chromosome 6 have been observed. The genetic incompatibilities have been caused by paternal uniparental disomy. The consequences of such cases for investigations of parentage are discussed.


Assuntos
Cromossomos Humanos Par 6/genética , Paternidade , Dissomia Uniparental/genética , Pré-Escolar , Feminino , Humanos , Masculino
6.
Forensic Sci Int ; 155(1): 13-7, 2005 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-16216706

RESUMO

We report on a 5-year-old girl who suddenly collapsed and died while dancing at a family party. Histological examination of the heart including the cardiac conduction system revealed lymphocytic infiltrations of the sinu-atrial node and perivascular infiltration in the atrio-ventricular region. Additionally, foci of mononuclear infiltrates were observed in the myocardium. Consequently, myocarditis was diagnosed as cause of death. The child also had lymphocytic conjunctivis, parotitis and tracheitis. Evaluation of infections by means of nested polymerase chain reaction revealed parvovirus B19 DNA (PVB19) in tissue samples of the trachea.


Assuntos
Morte Súbita Cardíaca/etiologia , Eritema Infeccioso/diagnóstico , Parvovirus B19 Humano/isolamento & purificação , Pré-Escolar , Conjuntivite Viral/diagnóstico , Feminino , Humanos , Linfócitos/patologia , Miocardite/virologia , Miocárdio/patologia , Parotidite/virologia , Traqueíte/virologia
7.
Vet Res Commun ; 29(2): 103-10, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15730134

RESUMO

Canine models are successfully applied to the study of haematopoietic stem cell transplantation (HSCT). Monitoring of haematopoietic donor/recipient chimerism is of major significance in detecting and quantifying engraftment or graft rejection of the donor-derived haematopoietic cells after transplantation. Radioactive analyses of polymorphic microsatellite markers are commonly used for chimerism analyses. We describe an improved, non-isotopic method that is based on the analysis of microsatellite markers in donor and recipient cells using capillary electrophoresis and fluorescence detection. Artificial mixtures of donor and recipient DNA that were generated from peripheral blood mononuclear cells from dog leukocyte antigen-identical siblings were used to analyse the sensitivity of the assay. DNA from dogs that had received HSCT were also analysed in order to demonstrate the feasibility of the method in vivo. For chimerism analyses, six different microsatellite loci were systematically amplified using fluorescent PCR primer. The fluorescent polymerase chain reaction products were separated by capillary electrophoresis using POP4 on a 310 ABI Prism Genetic Analyzer. After electrophoresis, fluorescence signals were automatically sized and quantified using GeneScan software. The method described provides an accurate assessment of haematopoietic chimerism in the canine model with significantly reduced hands-on time compared to conventional gel electrophoresis.


Assuntos
Cães/genética , Eletroforese Capilar/métodos , Transplante de Células-Tronco Hematopoéticas/veterinária , Repetições Minissatélites , Quimeras de Transplante/sangue , Animais , Feminino , Fluoresceína , Fluorescência , Corantes Fluorescentes , Masculino , Repetições de Microssatélites , Reação em Cadeia da Polimerase/métodos , Sensibilidade e Especificidade
8.
Forensic Sci Int ; 148(2-3): 207-9, 2005 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-15639615

RESUMO

The locus ACTBP2 (SE33) is localized on chromosome 6 (band 6q14). This has been demonstrated by typing a large Caucasoid three-generation kindred of Austrian origin for SE33 and several chromosome 6 markers.


Assuntos
Actinas/genética , Cromossomos Humanos Par 6 , Pseudogenes , Criança , Mapeamento Cromossômico , DNA/isolamento & purificação , Impressões Digitais de DNA , Feminino , Ligação Genética , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Genético , Sequências de Repetição em Tandem , Dissomia Uniparental , População Branca/genética
9.
Skeletal Radiol ; 32(1): 1-12, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12525938

RESUMO

OBJECTIVE: A meta-analysis was carried out of clinical trials published between 1987 and 2001 in respect of the clinical pharmacology and safety as well as the diagnostic efficacy of gadolinium-DTPA (Gd-DTPA) for direct intra-articular injection before MRI examination. DESIGN: Scientific papers (clinical, postmortem and experimental studies) and information from the manufacturer regarding intra-articular injection of Gd-DTPA that addressed questions of mode of action, optimal concentration and dose, elimination and safety were reviewed. Clinical studies were classified according to their study design. The sensitivity, specificity and accuracy of MR arthrography (MRA) were compared with a "gold standard" (arthroscopy, arthrotomy) and other radiological evidence for different joints. RESULTS: Fifty-two clinical studies of the overall 112 studies addressed aspects of diagnostic efficacy of MRA in patients or in healthy volunteers. The shoulder was the most assessed joint (29 of 52 studies). Good (>80%) or even excellent (90-100%) sensitivity, specificity and accuracy were found for MRA in most indications, especially for the shoulder and knee joints and induced extension of rotator cuff lesions, labrum abnormalities and postoperative meniscal tears. Two millimoles per liter has proven to be the best concentration for intra-articular administration of Gd-DTPA. After passive complete diffusion from the joint within 6-24 h, complete and rapid renal elimination takes place after intra-articular injection. Local safety proved to be excellent after intra-articular administration of Gd-DTPA. Regarding systemic tolerance almost no side effects have been reported, but the same safety considerations apply for intra-articular administration of Gd-DTPA as for intravenous injection. CONCLUSIONS: The diagnostic efficacy of intra-articular MRA in most clinical conditions affecting major joints is greater than that of plain MRI. In some diagnostic problems MRA achieves almost the same sensitivity and specificity as the surgical gold standard. Given a sterile application, the intra-articular administration of Gd-DTPA in a concentration of 2 mmol/l prior to MRI is a safe procedure.


Assuntos
Artrografia , Meios de Contraste/farmacologia , Gadolínio DTPA/farmacologia , Artropatias/diagnóstico , Imageamento por Ressonância Magnética , Ensaios Clínicos como Assunto , Humanos , Sensibilidade e Especificidade , Estatísticas não Paramétricas
10.
Forensic Sci Int ; 124(1): 11-6, 2001 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-11741753

RESUMO

Cyanoacrylate ester (CA) is commonly used by criminalists to detect latent fingerprints on smooth surfaces. We investigated whether this treatment has an influence on a subsequent DNA typing of biological stains, and on the efficiency of three different forensic PCRs (mtDNA, Y-STR determination and the Profiler Plus kit). Using fluorescence labeled primers and an automated detection system, we could show that the presence of CA led to weaker PCR products. Depending on the DNA extraction method the amplification results were significantly weaker compared to untreated controls. To simulate forensic cases we prepared blood and saliva stains on glass slides, extracted the DNA using two different methods and compared the signal intensities of the amplified DNA fragments. Depending on the extraction methods, the presence of CA significantly hampered the amplification of DNA from small stains whereas there was virtually no difference comparing the amplification results of DNA extracted from bigger stains.


Assuntos
Cianoacrilatos/efeitos adversos , Impressões Digitais de DNA/métodos , Medicina Legal , Reação em Cadeia da Polimerase/métodos , Humanos , Técnicas de Amplificação de Ácido Nucleico
11.
J Chem Ecol ; 27(3): 499-515, 2001 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11441441

RESUMO

Egg deposition of the elm leaf beetle Xanthogaleruca luteola causes the emission of volatiles from its food plant, Ulmus minor. These volatiles are exploited by the egg parasitoid, Oomyzus gallerucae, to locate its host. In contrast to other tritrophic systems, the release of volatiles is not induced by feeding but by egg deposition. Previous investigations showed that the release is systemic and can be triggered by jasmonic acid. Comparison of headspace analysis revealed similarities in the blend of volatiles emitted following egg deposition and feeding. The mixture consists of more than 40 compounds; most of the substances are terpenoids. Leaves next to those carrying eggs emit fewer compounds. When treated with jasmonic acid, leaves emit a blend that consists almost exclusively of terpenoids. Dichloromethane extracts of leaves treated with jasmonic acid were also investigated. After separation of extracts of jasmonate induced elm leaves on silica, we obtained a fraction of terpenoid hydrocarbons that was attractive to the parasitoids. This indicates that jasmonic acid stimulates the production of terpenoid hydrocarbons that convey information of egg deposition to the parasitoid.


Assuntos
Besouros/fisiologia , Oviposição/fisiologia , Feromônios/fisiologia , Extratos Vegetais/análise , Árvores/fisiologia , Animais , Ciclopentanos/química , Feminino , Cromatografia Gasosa-Espectrometria de Massas , Masculino , Odorantes , Oxilipinas , Feromônios/química , Folhas de Planta/química , Folhas de Planta/parasitologia , Folhas de Planta/fisiologia , Estatísticas não Paramétricas , Terpenos/análise , Árvores/química , Árvores/parasitologia
12.
Verh Dtsch Ges Pathol ; 85: 109-17, 2001.
Artigo em Alemão | MEDLINE | ID: mdl-11894388

RESUMO

The lecture explains the current legal position in Germany and is intended to help pathologists make decisions. I. The term "unnatural death" is a technical term within the meaning of section 159 German Code of Criminal Procedure. Even "indications"--again a legal term--constitute a statutory duty to make an immediate report. If such causes for suspicion arise at autopsy, the pathologist is confronted with an ethical and legal dilemma. With his report he can trigger a chain of events that is no longer under his control, and may extend well beyond the original request for a medical diagnosis. II. Starting with the relevant definitions for the subject, the lecturer focuses on the special case of unexpected death in connection with medical intervention. Where does the pathologist's responsibility end? Which information channels must be observed? The pathologist's rights, duties and degree of discretion are discussed. III. Finally, the lecturer addresses the "matter of the body" which must be examined by the responsible state prosecutor as a consequence of the pathologist's report.


Assuntos
Autopsia , Causas de Morte , Patologia , Crime/legislação & jurisprudência , Alemanha , Humanos , Patologia/normas
14.
Eur Radiol ; 9(9): 1901-8, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10602973

RESUMO

The aim of this study was to evaluate the safety and efficacy of iopromide 240 mgI/ml in comparison with iohexol 240 mgI/ml in myelography. A total of 421 patients in seven centers and four countries received an average of 11.9 ml of either iopromide 240 (278 patients) or iohexol 240 (143 patients) for X-ray and/or CT myelography in a randomized (2:1), prospective, double-blind study. All patients were followed up 3-4 h after the procedure, and 327 patients remained hospitalized for 24 h. In 82 patients an EEG was recorded prior to as well as 3-4 h and 24 h after myelography. Physical examinations, including measurement of vital signs, were performed in all patients at these time points. The results were subject to statistical analysis with the primary variable being the incidence of adverse events. Both contrast media (CM) were equally effective in terms of opacification. The rating for opacity was "good" or "excellent" in 88 % for both CM. Four patients (iopromide group: n = 3; iohexol group: n = 1) had transient EEG changes but did not show clinical symptomatology. The overall rate of patients experiencing any adverse event (AE) was 16.9 % for iopromide 240 and 14.0 % for iohexol 240. Equivalence testing was inconclusive; however, the results indicated equivalence. The rate for AEs considered as study-drug related was slightly lower with iopromide 240 than with iohexol 240 (7.2 vs 7.7 %, respectively). Neither unknown nor unexpected AEs known for myelographic X-ray CM nor serious adverse events were observed. Iopromide 240 and iohexol 240 are equally safe and effective and can be recommended for myelography.


Assuntos
Meios de Contraste/administração & dosagem , Iohexol/análogos & derivados , Mielografia/métodos , Doenças da Medula Espinal/diagnóstico por imagem , Medula Espinal/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Método Duplo-Cego , Eletroencefalografia , Feminino , Humanos , Injeções Espinhais , Iohexol/administração & dosagem , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Segurança
15.
Invest Radiol ; 34(11): 692-7, 1999 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-10548381

RESUMO

OBJECTIVE: To evaluate the pharmacokinetics and tolerability of iopromide 240 mg iodine/mL after intrathecal administration. METHODS: Eleven patients with an indication for lumbar myelography received 10 mL iopromide 240 in an open, prospective, single-center study. All patients were followed 72 hours after the procedure and remained in the hospital. Urine was sampled from before the myelography up to 72 hours after the procedure in stages (range, 0-6, 6-12, 12-24, 24-48, and 48-72 hours). Iodine plasma levels were determined before and 30 minutes, 1 hour, 2 hours, 4 hours, 6 hours, 9 hours, 12 hours, and 24 hours after the administration of iopromide 240. Vital signs were measured at baseline, before, and 1 and 24 hours after the procedure. Physical and neurologic examinations were performed in all patients at baseline and at the end of the study period; all adverse events were recorded. The results were subject to pharmacokinetic analysis using compartment model-independent and -dependent methods. RESULTS: Ten of 11 patients had measurable iodine plasma levels. After a lag time of approximately 0.6 hours (mean value), maximum iodine concentrations of 45% of the administered dose per total plasma volume were observed after 3.8 hours. Plasma half-lives ranged from 3.0 to 60.5 hours (model-independent methods) with a mean of 14.9 hours and a standard deviation of 17.0 hours. Using curve fitting with an open one-compartment model revealed good agreement with the model-independent methods (half-life 17.3 hours). The recovery of iodine in urine in the 72-hour period was 78%+/-15% (range, 53%-94%) as a result of an undeterminable loss of urine in some patients and prolonged half-lives in two patients. Only one patient had adverse events 24 hours after myelography. CONCLUSIONS: After lumbar myelography, iopromide 240 is almost completely excreted renally within 72 hours, with a prolonged half-life as a result of the route of administration. The kinetics of iopromide 240 after intrathecal administration are characterized by a prolonged half-life. The safety of the contrast medium was confirmed.


Assuntos
Meios de Contraste/farmacocinética , Iohexol/análogos & derivados , Mielografia/métodos , Adulto , Idoso , Meios de Contraste/administração & dosagem , Meios de Contraste/efeitos adversos , Meios de Contraste/análise , Feminino , Meia-Vida , Humanos , Injeções Espinhais , Iodo/análise , Iohexol/administração & dosagem , Iohexol/efeitos adversos , Iohexol/análise , Iohexol/farmacocinética , Vértebras Lombares , Masculino , Pessoa de Meia-Idade , Mielografia/estatística & dados numéricos , Punção Espinal , Fatores de Tempo
17.
Int J Legal Med ; 110(6): 326-8, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9387016

RESUMO

The report deals with a 27-year-old male who was standing in a tent and was injured by lightning as it struck a tree about 1.5 m away. He immediately lost consciousness and exhibited ventricular fibrillation when the emergency physician arrived. A clinical picture of hypoxaemic brain damage emerged after initially successful resuscitation. Brain death was diagnosed on the fifth day after injury. The discrete external findings (remaining arborescent skin marks) contrasted markedly with the severe thermal damage to the pectoral muscle and cardiac musculature found during the autopsy. The histological cardiac findings indicated severe acute myocardial infarction affecting virtually all parts of the myocardium.


Assuntos
Autopsia/métodos , Traumatismos Cardíacos/patologia , Lesões Provocadas por Raio/patologia , Infarto do Miocárdio/etiologia , Adulto , Traumatismos Cardíacos/complicações , Humanos , Lesões Provocadas por Raio/complicações , Masculino , Infarto do Miocárdio/patologia
18.
Int J Legal Med ; 108(4): 215-8, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-8652428

RESUMO

A case of fibromuscular dysplasia of the coronary arteries in a 15-year-old boy is reported. After a quarrel involving no violence the boy suddenly suffered from ventricular fibrillation, collapsed and was initially successfully defibrillated. After 37 days of deep unconsciousness the boy died of bronchopneumonia. The cause of the ventricular fibrillation was clarified only after histological investigations. Fibromuscular dysplasia of the coronary arteries with narrowing was found, which has very occasionally been described in the literature. However, its localization in the A-V node artery, as described here, only seems to have been observed once.


Assuntos
Doença das Coronárias/patologia , Displasia Fibromuscular/patologia , Adolescente , Isquemia Encefálica/etiologia , Broncopneumonia/etiologia , Coma/etiologia , Doença das Coronárias/complicações , Morte Súbita Cardíaca/etiologia , Evolução Fatal , Displasia Fibromuscular/complicações , Humanos , Masculino , Fibrilação Ventricular/etiologia
19.
Anaesthesiol Reanim ; 21(6): 163-6, 1996.
Artigo em Alemão | MEDLINE | ID: mdl-9090951

RESUMO

The clinical course and some toxicologic-analytical aspects of an acute intoxication with cocaine are presented. Diagnosis was made by the induced toxicologic emergency investigation since neither symptoms nor clinical test results or anamnestic data showed relevant diagnostic information. Based on the results of the analytic investigation, we concluded it was a suicide based on long-term abuse of cocaine. Because of the unusually high concentrations of cocaine und cocaine metabolites in the body of liquids and tissues, it seemed probable that the patient was intoxicated with a lethal dose of at least 1 g cocaine. This case report underlines the importance of clinical and toxicological investigations in the diagnostic procedure of unclear comata and the importance of forensic toxicological analysis in clarifying anamnestic questions.


Assuntos
Cocaína/intoxicação , Overdose de Drogas/sangue , Transtornos Relacionados ao Uso de Opioides/sangue , Adulto , Cocaína/farmacocinética , Evolução Fatal , Humanos , Masculino , Suicídio , Distribuição Tecidual
20.
Clin Neuropathol ; 14(4): 211-5, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-8521624

RESUMO

Many neurological disorders have been described in combination with sensorineural hearing loss and pigmentary retinopathy. We present the clinicopathological case of such a combination, associated with premature atherosclerosis of large cerebral arteries. In the literature dealing with the combination of deafness and pigmentary retinopathy, none of the many described syndromes was associated with premature atherosclerosis. The mitochondrial myopathy, encephalopathy, lactic acidosis, early atherosclerosis and stroke-like episodes (MELAS) syndrome can include deafness and blindness. In this syndrome small cerebral arteries are affected. In our case we did not find electron microscopic evidence of mitochondrial myopathy. Also the syndrome with encephalopathy, deafness, blindness and ataxia in young women is attributed to microangiopathy with small brain infarcts and retinal infarcts. In contrast, in our case, large cerebral arteries are affected. In the reverse order, none of the conditions with early atherosclerosis has been reported in combination with sensorineural deafness and pigmentary retinopathy. There is some similarity of our case to cases of Usher syndrome, type II. In the Usher syndrome, plasma lipid disturbances have been described and neuroradiological evidence of decreased circulation in the posterior cerebral circulation has been published. We suggest that in cases of congenital or acquired oto-ophthalmo-neurological disease the cerebral circulation and the lipid metabolism should be analyzed.


Assuntos
Arteriosclerose/congênito , Surdez/congênito , Marcha , Deficiência Intelectual , Retinose Pigmentar/congênito , Artérias Cerebrais , Feminino , Humanos , Lactente , Síndrome
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