RESUMO
TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations. The disease segregates with a silent substitution in TSC2, c.4149C>T, p.(Ser1383Ser), which leads to the formation of an active donor splice site, resulting in three shorter alternatively spliced transcripts with premature stop codons. However a small amount of normal spliced transcript is apparently produced from the mutated allele, which might explain the milder phenotype. The gene products of TSC1/2 form a complex which at energy limiting states, down-regulates the activity of the regulator of protein synthesis, the mammalian target of rapamycin complex1 (mTORC1). As expected, in contrast to cultured control fibroblasts, starvation of cultured patient fibroblasts obtained from a hypomelanotic macule did not lead to repression of mTORC1, whereas partial repression was observed in patient fibroblasts obtained from non-lesional skin. The findings indicate that the development of hypomelanotic macules is associated with constitutive activated mTORC1, whereas mild deregulation of mTORC1 allows the maintenance of normal skin. Furthermore, the finding establishes the pathogenic effect of the "silent" c.4149C>T substitution and emphasizes the need for awareness when interpreting silent substitutions in general.
Assuntos
Complexos Multiproteicos/genética , Complexos Multiproteicos/metabolismo , Dermatopatias/patologia , Serina-Treonina Quinases TOR/genética , Serina-Treonina Quinases TOR/metabolismo , Esclerose Tuberosa/complicações , Proteínas Supressoras de Tumor/genética , Substituição de Aminoácidos , Células Cultivadas , Regulação para Baixo , Feminino , Fibroblastos/citologia , Fibroblastos/metabolismo , Humanos , Masculino , Alvo Mecanístico do Complexo 1 de Rapamicina , Linhagem , Splicing de RNA , Análise de Sequência de DNA , Dermatopatias/genética , Dermatopatias/metabolismo , Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose TuberosaRESUMO
BACKGROUND: Many candidates for kidney transplantation need to undergo vessel examination before the transplantation procedure. PURPOSE: To identify the optimal preoperative modality for the examination of vessel status without the use of contrast agents in kidney transplant candidates. MATERIAL AND METHODS: Fifty-three consecutive patients were examined and 31 patients were transplanted. Ultrasonography (US), non-contrast-enhanced computed tomography (NCCT), and non-contrast-enhanced magnetic resonance angiography (NCMRA) were compared using inspection during kidney transplantation (TX) as a reference standard. The sensitivity and specificity to severe arteriosclerotic changes and the accuracy were calculated. Kappa statistics were used to assess the agreement between TX and the different examination modalities, and McNemar's test was used to test for significant differences. RESULTS: US had higher sensitivity (1.0) and better agreement with observations from surgery (k = 0.89) than both NCCT (sensitivity = 0.60; k = 0.72) and NCMRA (sensitivity = 0.20; k = 0.30). No significant difference was found between TX and US (P = 0.3173) or TX and NCCT (P = 0.1573), but there was a significant difference between TX and NCMRA (P = 0.0455). US was inconclusive in 20% of cases, and the internal iliac artery could not be visualized in 69% of cases. CONCLUSION: Either US or NCCT can be used as the preferred preoperative imaging modality to examine vessel status before kidney transplantation, but a combination of the two is preferable. NCMRA should not be used as the sole imaging modality for preoperative imaging before kidney transplantation because of its low sensitivity in detecting severe arteriosclerotic disease without the presence of stenosis.
Assuntos
Transplante de Rim , Rim/diagnóstico por imagem , Angiografia por Ressonância Magnética , Cuidados Pré-Operatórios/métodos , Tomografia Computadorizada por Raios X , Adulto , Idoso , Feminino , Humanos , Rim/patologia , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , UltrassonografiaRESUMO
OBJECTIVE: Changes in blood oxygen level dependent (BOLD) magnetic resonance imaging (MRI) signal are closely related to changes in fetal oxygenation. In this study, we aimed to investigate the changes in human fetal oxygenation during maternal hyperoxia by using the non-invasive BOLD MRI technique. METHOD: Eight healthy pregnant women in gestational week 28 to 34 were included. With the use of a facial oxygen mask, we induced maternal hyperoxia and measured changes in the BOLD MRI signal of selected fetal organs. RESULTS: In a number of fetal organs, the BOLD MRI signal increased significantly (P < 0.01) during maternal hyperoxia (mean change in % ± SEM): liver (14.3 ± 3.7%), spleen (15.2 ± 3.5%) and kidney (6.2 ± 1.8%) as well as the placenta (6.5 ± 1.6%). In the fetal brain, however, the BOLD MRI signal remained constant (0.3 ± 0.2%). CONCLUSION: During maternal hyperoxia, we demonstrated an increased oxygenation in a number of human fetal organs by using the non-invasive BOLD technique. The oxygenation of the fetal brain remained constant, thus a 'reversed' brain sparing mechanism could be considered in healthy fetuses subjected to hyperoxia.
Assuntos
Feto/fisiologia , Hiperóxia/fisiopatologia , Oxigênio/sangue , Complicações na Gravidez/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , GravidezRESUMO
von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell carcinomas (RCC), pheochromocytomas, neuroendocrine pancreatic tumours (PNET) and endolymphatic sac tumours. Evidence based approaches are needed to ensure an optimal clinical care, while minimizing the burden for the patients and their families. This guideline is based on evidence from the international vHL literature and extensive research of geno- and phenotypic characteristics, disease progression and surveillance effect in the national Danish vHL cohort. We included the views and preferences of the Danish vHL patients, ensured consensus among Danish experts and compared with international recommendations. RECOMMENDATIONS: vHL can be diagnosed on clinical criteria, only; however, in most cases the diagnosis can be supported by identification of a pathogenic or likely pathogenic variant in VHL. Surveillance should be initiated in childhood in persons with, or at risk of, vHL, and include regular examination of the retina, CNS, inner ear, kidneys, neuroendocrine glands, and pancreas. Treatment of vHL manifestations should be planned to optimize the chance of cure, without unnecessary sequelae. Most manifestations are currently treated by surgery. However, belzutifan, that targets HIF-2α was recently approved by the U.S. Food and Drug Administration (FDA) for adult patients with vHL-associated RCC, CNS hemangioblastomas, or PNETs, not requiring immediate surgery. Diagnostics, surveillance, and treatment of vHL can be undertaken successfully by experts collaborating in multidisciplinary teams. Systematic registration, collaboration with patient organisations, and research are fundamental for the continuous improvement of clinical care and optimization of outcome with minimal patient inconvenience.
Assuntos
Carcinoma de Células Renais , Hemangioblastoma , Neoplasias Renais , Doença de von Hippel-Lindau , Adulto , Predisposição Genética para Doença , Hemangioblastoma/diagnóstico , Hemangioblastoma/genética , Hemangioblastoma/terapia , Humanos , Neoplasias Renais/complicações , Doença de von Hippel-Lindau/diagnóstico , Doença de von Hippel-Lindau/genéticaRESUMO
Invasive aspergillosis (IA) is a major cause of death among patients with chronic granulomatous disease (CGD). Few cases of cardiac aspergillosis have been published on CGD patients. Diagnosis of IA in CGD patients can be hampered by lack of characteristic symptoms and clinical signs and the serum galactomannan assay is often negative. We report the first CGD patient with IA presenting as pericarditis where combined antifungal therapy resulted in a successful outcome.
Assuntos
Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/patologia , Aspergilose Pulmonar Invasiva/diagnóstico , Aspergilose Pulmonar Invasiva/patologia , Pericardite/diagnóstico , Pericardite/patologia , Adulto , Antifúngicos/administração & dosagem , Aspergillus/isolamento & purificação , Quimioterapia Combinada/métodos , Ecocardiografia , Feminino , Humanos , Aspergilose Pulmonar Invasiva/microbiologia , Imageamento por Ressonância Magnética , Pericardite/microbiologia , Radiografia Torácica , Resultado do TratamentoRESUMO
BACKGROUND: Stroke is a serious complication in patients with type 2 diabetes (T2DM). Arterial stiffness may improve stroke prediction. We investigated the association between carotid-femoral pulse wave velocity [PWV] and the progression of cerebral white matter hyperintensities (WMH), a marker of stroke risk, in patients with T2DM and controls. METHODS: In a 5-year cohort study, data from 45 patients and 59 non-diabetic controls were available for analysis. At baseline, participants had a mean (± SD) age of 59 ± 10 years and patients had a median (range) diabetes duration of 1.8 (0.8-3.2) years. PWV was obtained by tonometry and WMH volume by an automated segmentation algorithm based on cerebral T2-FLAIR and T1 MRI (corrected by intracranial volume, cWMH). High PWV was defined above 8.94 m/s (corresponding to the reference of high PWV above 10 m/s using the standardized path length method). RESULTS: Patients with T2DM had a higher PWV than controls (8.8 ± 2.2 vs. 7.9 ± 1.4 m/s, p < 0.01). WMH progression were similar in the two groups (p = 0.5). One m/s increase in baseline PWV was associated with a 16% [95% CI 1-32%], p < 0.05) increase in cWMH volume at 5 years follow-up after adjustment for age, sex, diabetes, pulse pressure and smoking. High PWV was associated with cWMH progression in the combined cohort (p < 0.05). We found no interaction between diabetes and PWV on cWMH progression. CONCLUSIONS: PWV is associated with cWMH progression in patients with type 2 diabetes and non-diabetic controls. Our results indicate that arterial stiffness may be involved early in the pathophysiology leading to cerebrovascular diseases.
RESUMO
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity. There are international consensus criteria for the diagnosis, monitoring and treatment of TSC, and approved medical treatment for some of the most serious disease manifestations. However, organisation of a rational and coordinated care of TSC patients involves many different medical specialities and is only sparsely described. This review describes the interdisciplinary care of TSC patients at Aarhus University Hospital, Denmark.
Assuntos
Esclerose Tuberosa , Consenso , Dinamarca , Humanos , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/terapiaRESUMO
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. Intracranial vascular pathologies (but not cerebral cavernous malformation) have recently been described in a number of individuals with BHD (Kapoor et al. in Fam Cancer 14:595-597, 10.1007/s10689-015-9807-y , 2015) but it is not yet clear whether they represent a genuine part of that conditions' phenotypic spectrum. We suggest that in such instances of potentially novel clinical features, more extensive genetic testing to consider co-existing conditions should be considered where available. The increased use of next generation sequencing applications in diagnostic settings is likely to lead more cases such as this being revealed.
Assuntos
Síndrome de Birt-Hogg-Dubé/genética , Proteínas de Transporte/genética , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Supressoras de Tumor/genética , Síndrome de Birt-Hogg-Dubé/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , MutaçãoRESUMO
OBJECTIVE: Foetal MRI has become an established image modality in the prenatal diagnosis of CNS anomalies, but image quality can be severely affected by foetal movements. The objective was to overcome these inherent motion problems by applying interactive real-time MRI and to evaluate the diagnostic usefulness of the applied real-time MRI sequence in relation to standard protocols. METHODS: Ten healthy foetuses (gestation week 21·3 ± 0·5) were scanned using a system, which allowed visual feedback and interactive slice positioning in real time. The data were compared to a control group of 14 healthy foetuses (gestation week 21·0 ± 0·8) who had previously been scanned using standard MRI. Comparisons were carried out by two radiologists with regard to cerebral anthropometric sizes, presence of important brain structures, degree of movement, clinical image value, image quality and ability to obtain correct slice planes. RESULTS: Two out of eight anthropometric sizes were statistically different between the two groups. Representation of cerebral structures was found in 70-100% in the real-time group. No statistically differences were found in clinical image value and image quality. The mean ability to obtain optimal slice planes was higher in the real-time group, but it was not significant. CONCLUSION: Imaging of the foetal brain using the proposed interactive real-time MRI system is a promising alternative to traditional foetal MRI for anthropometrics or as a supplement for the representation of foetal brain structures in cases in which foetal motion causes challenges in relation to obtaining optimal slice planes using conventional MRI techniques.
Assuntos
Encéfalo/diagnóstico por imagem , Cefalometria/métodos , Feto/diagnóstico por imagem , Imageamento por Ressonância Magnética , Movimento , Diagnóstico Pré-Natal/métodos , Adulto , Artefatos , Encéfalo/crescimento & desenvolvimento , Feminino , Desenvolvimento Fetal , Idade Gestacional , Humanos , Interpretação de Imagem Assistida por Computador , Valor Preditivo dos Testes , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Tempo , Adulto JovemRESUMO
OBJECTIVE: Perturbations in the insulin-like growth factor (IGF) system may contribute to the accelerated cardiovascular disease (CVD) that occurs in patients with type 2 diabetes (T2D). However, it remains unknown whether the IGF system is also involved in the development of early, subclinical CVD. We characterised the IGF system in T2D patients and matched controls and examined the associations with markers of subclinical target organ damage. METHODS: The study included 99 patients with recently diagnosed T2D and 99 age- and sex-matched controls. IGF-1 and IGFBP-1 to -4 were measured by immunoassays, as were pregnancy-associated plasma protein-A (PAPP-A) and the PAPP-A-generated N-terminal (NT) and C-terminal (CT) IGFBP-4 fragments, which are novel CVD risk markers. Arterial stiffness was evaluated by carotid-femoral pulse wave velocity (PWV). Cerebral white matter lesions (WMLs) and carotid artery remodelling were determined by MRI. RESULTS: After multivariate adjustments, patients with T2D had lower concentrations of IGFBP-2, IGFBP-4, NT- and CT-IGFBP-4, when compared with controls. IGFBP-2 was inversely correlated to PWV in all subjects in multivariate analysis (P < 0.05), and IGFBP-3 was inversely associated with severity of WMLs (P < 0.05). The NT-IGFBP-4 fragment was associated with the degree of carotid artery remodelling among all subjects (regression coefficient (95% CI): 2.95 (0.70, 5.16), P = 0.011). Levels of NT- and CT-IGFBP-4 were reduced in T2D patients receiving metformin compared to those in controls and patients not receiving metformin. CONCLUSIONS: Even in recently diagnosed and well-controlled T2D patients, IGF protein levels are altered and associated with CVD risk factors.
Assuntos
Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/diagnóstico , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Proteína 2 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Proteína 4 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Idoso , Biomarcadores/sangue , Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Proteína 1 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Pessoa de Meia-Idade , GravidezRESUMO
BACKGROUND: Children with major congenital heart defects are risking impaired cerebral growth, delayed cerebral maturation, and neurodevelopmental disorders. We aimed to compare the cerebral tissue oxygenation of fetuses with major heart defects to that of fetuses without heart defects as estimated by the magnetic resonance imaging modality T2*. T2* is low in areas with high concentrations of deoxyhemoglobin. METHODS AND RESULTS: At gestational age mean 32 weeks (early) and mean 37 weeks (late), we compared the fetal cerebral T2* in 28 fetuses without heart defects to that of 15 fetuses with major heart defects: transposition of the great arteries (n=7), coarctation of the aorta/hypoplastic aortic arch (n=5), tetralogy of Fallot (n=1), hypoplastic right heart (n=1), and common arterial trunk (n=1). The women were scanned with a 1.5 T Philips scanner using a breath-hold multiecho gradient echo sequence. Among fetuses without heart defects, the mean T2* value was 157 ms (95% confidence interval [CI], 152-163) early and 125 ms (95% CI, 120-130) late. These figures were significantly lower (mean 14 ms; 95% CI, 6-22; P<0.001) among fetuses with heart defects 143 ms (95% CI, 136-150) early and 111 ms (95% CI, 104-118) late. CONCLUSIONS: Our findings indicate that fetal cerebral T2* is measurable and that fetal cerebral tissue oxygenation measured by T2* is lower in fetuses with heart defects compared with fetuses without heart defects. This corroborates the hypothesis that tissue hypoxia may be a potential pathogenic factor that possibly affects brain development in fetuses with heart defects.
Assuntos
Encéfalo/irrigação sanguínea , Circulação Cerebrovascular , Feto/irrigação sanguínea , Feto/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Oxigênio/sangue , Diagnóstico Pré-Natal/métodos , Adulto , Biomarcadores/sangue , Feminino , Feto/fisiopatologia , Idade Gestacional , Cardiopatias Congênitas/sangue , Cardiopatias Congênitas/fisiopatologia , Hemoglobinas/metabolismo , Humanos , Consumo de Oxigênio , Valor Preditivo dos Testes , Gravidez , Reprodutibilidade dos Testes , Ultrassonografia Pré-NatalRESUMO
INTRODUCTION: The aim of this study was to describe the prevalence, subtypes, severity and neuroimaging findings of cerebral palsy (CP) in a cohort of children born in Southern Denmark. Risk factors were analysed and aetiology considered. METHODS: A population-based cohort study covering 17,580 live births from 2003 to 2008. RESULTS: The study included 43 children diagnosed with CP. The overall prevalence of CP was 2.4 per 1,000 live births (95% confidence interval (CI): 1.8-3.2). The gestational age (GA)-specific prevalence ranged from 63.5 per 1,000 live births for GA < 32 weeks to 1.3 for GA ≥ 37 weeks. Almost half of the children were born preterm and 28% were from multiple pregnancies. The prevalence of CP was 1.8 per 1,000 in singletons and 15.4 per 1,000 in multiples. Low GA and birth weight were risk factors for CP, also after stratification for multiple births. Spastic CP was the predominating subtype of CP, and 24 children (56%) were able to walk independently. White-matter lesions were the most common magnetic resonance imaging finding, and the aetiology of CP was known in 37% of cases. CONCLUSION: The overall prevalence of CP was slightly higher than that found in other Scandinavian studies due to its higher prevalence in the preterm group. Possible explanations include the high rate of multiple births in the background population. Neuroimaging findings were abnormal in the majority of children with CP, but aetiology could only be established in one third of the children. Primary prevention of CP is possible if the numbers of preterm births and multiple pregnancies can be reduced. FUNDING: The Danish Cerebral Palsy Follow-up Programme is supported by the foundation "Ludvig og Sara Elsass Fond". TRIAL REGISTRATION: 2008-58-0034.
Assuntos
Paralisia Cerebral/epidemiologia , Peso ao Nascer , Paralisia Cerebral/etiologia , Criança , Estudos de Coortes , Dinamarca/epidemiologia , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Prole de Múltiplos Nascimentos , Prevalência , Sistema de Registros , Fatores de RiscoRESUMO
RATIONALE AND OBJECTIVES: Living renal donors undergo an extensive examination program. These examinations should be as safe, gentle, and patient friendly as possible. To compare computed tomography angiography (CTA) and an extensive magnetic resonance imaging (MRI) protocol without contrast agents to observations from nephrectomy in living renal donors and to evaluate whether noncontrast-enhanced MRI can replace CTA for vessel assessment in living renal donors. MATERIAL AND METHODS: CTA and MRI results were compared to observations from nephrectomy, which served as the reference standard. Fifty-one potential kidney donors underwent imaging, and 31 donated a kidney. Comparisons in sensitivity, specificity, and accuracy were made with respect to the number of arteries, early branching, and the number of veins. Agreement was assessed using Cohen's kappa. The exact McNemar's test was used to test for statistically significant differences. RESULTS: In the assessment of more than one renal artery, the sensitivity and specificity of MRI and CTA were high and in perfect agreement compared to observations from surgery. The results for both MRI and CTA were as follows: (sensitivity 100%/specificity100%/accuracy 100%/Kappa = 1/P = 1). When comparing the ability to test for early branching we found, MRI: (sensitivity 33%/specificity 100%/accuracy 87%/Kappa = 0.45/P = 1) and CTA: (sensitivity 50%/specificity 100%/accuracy 90%/Kappa = 0.62/P = 1). When used to depict supernumerary veins, we found MRI: (sensitivity60%/specifivity100%/accuracy 93%/Kappa = 0.72/P = 1), whereas CTA showed: (sensitivity 40%/specificity 96%/accuracy 87% Kappa = 0.43/P = 1). CONCLUSIONS: In conclusion, an optimized MRI protocol that includes noncontrast-enhanced magnetic resonance angiography can be substituted for CTA for preoperative assessment of the renal vessels before living donor nephrectomy.
Assuntos
Transplante de Rim , Doadores Vivos , Angiografia por Ressonância Magnética , Artéria Renal/diagnóstico por imagem , Veias Renais/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Idoso , Feminino , Humanos , Angiografia por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Nefrectomia , Período Pré-Operatório , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Post-varicella angiopathy is an important cause of childhood stroke and follows a particular pattern. Specific treatment guidelines have not been developed because of a lack of epidemiological, laboratory, and neuroimaging data. Prospective randomized controlled trials evaluating different treatment strategies have not been performed, and expert opinions on diagnostic criteria, prognosis, and treatment are diverging. METHODS: This case series describes the clinical course, laboratory, and neuroimaging findings of four children with post-varicella angiopathy, who all underwent cerebrospinal fluid assessment and received antiviral, immunosuppressive, and antiplatelet treatment. RESULTS: Cerebrospinal fluid analysis was positive for varicella-zoster virus markers in three children. At follow-up, three children had a mild hemiparesis and one child had no neurological symptoms. Neuroimaging showed complete vascular remission in three patients and improvement in one. CONCLUSIONS: Systematic search for virologic markers in cerebrospinal fluid will contribute to the understanding of the pathogenesis of idiopathic childhood stroke and can be considered as a prerequisite for the development of clear diagnostic criteria and relevant treatment strategies for post-varicella angiopathy. The role of antiviral and immunosuppressive medication needs to be clarified.
Assuntos
Isquemia Encefálica/etiologia , Varicela/complicações , Acidente Vascular Cerebral/etiologia , Biomarcadores/líquido cefalorraquidiano , Encéfalo/patologia , Isquemia Encefálica/líquido cefalorraquidiano , Isquemia Encefálica/patologia , Isquemia Encefálica/terapia , Feminino , Seguimentos , Humanos , Lactente , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Paresia/líquido cefalorraquidiano , Paresia/etiologia , Paresia/patologia , Paresia/terapia , Acidente Vascular Cerebral/líquido cefalorraquidiano , Acidente Vascular Cerebral/patologia , Acidente Vascular Cerebral/terapia , Resultado do TratamentoRESUMO
BACKGROUND: Real-time magnetic resonance imaging (MRI) imaging with real-time reconstruction has been available for some time. The technique acquires and presents the MRI images to the operator the instant they are acquired. However, besides guiding purposes, like catheter tracking and placement of electrodes during neurosurgery, the diagnostic value of this method is relatively unexplored. PURPOSE: To test an interactive slice-positioning system with respect to real-time MRI reconstruction for imaging of moving anatomical structures on two different scanner brands by using inexpensive computer hardware. MATERIALS AND METHODS: The MRI data were sampled using two acquisition schemes: a Cartesian sampling scheme and a radial sampling scheme based on the golden ratio. Four anatomical targets, which exhibit non-periodic movement, were identified and imaged: movement of the gastric ventricle emptying, movement of the small bowels, the articulators of a professional singer and of a 20-week old fetus. RESULTS: Informative anatomical images were obtained in different settings of moving targets. The implemented real-time system acquired, reconstructed and displayed MRI images in real time with a high frame rate using inexpensive computer hardware on two standard 1.5 T clinical MRI scanners. CONCLUSION: Our approach verified that when imaging selected moving anatomical targets, with no a priori knowledge of the movement, interactive slice positioning using real-time reconstruction may be a feasible approach for finding the optimal slice position in cases in which a standard 3D volumetric scan is impeded by movement. Future studies are needed to explore its full potential.
Assuntos
Movimento Fetal , Esvaziamento Gástrico , Interpretação de Imagem Assistida por Computador , Intestino Delgado/fisiologia , Imageamento por Ressonância Magnética , Movimento , Faringe/fisiologia , Diagnóstico Pré-Natal/métodos , Fenômenos Biomecânicos , Estudos de Viabilidade , Feminino , Idade Gestacional , Humanos , Fonação , Valor Preditivo dos Testes , Gravidez , Fatores de Tempo , VozRESUMO
Bariatric surgery is performed on an increasing number of women of childbearing age. During pregnancy they have reduced risk of obesity-related complications but increased risk of bariatric surgery-related complications, including internal hernias. We present a case in which a pregnant woman required acute surgery for internal herniation and later gave birth to a child with cerebral palsy. Before performing bariatric surgery in women of childbearing age, thorough information about risks and benefits related to pregnancy should be given. Special medical attention during pregnancy is required.
Assuntos
Doenças Fetais/etiologia , Derivação Gástrica/efeitos adversos , Hérnia Abdominal , Complicações na Gravidez/etiologia , Adulto , Feminino , Hérnia Abdominal/complicações , Hérnia Abdominal/etiologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Gravidez , Quadriplegia/etiologiaRESUMO
OBJECTIVE: Patients with type 2 diabetes have a high incidence of cardiovascular events including stroke. Increased arterial stiffness (AS) predicts cardiovascular events in the general population. Cerebral white matter lesions (WMLs) are associated with an increased risk of stroke. It is unknown whether AS in patients with type 2 diabetes is associated with WMLs. RESEARCH DESIGN AND METHODS: We examined 89 patients recently diagnosed with type 2 diabetes (<5 years) and 89 sex- and age-matched controls. AS was assessed with carotid-femoral pulse wave velocity (PWV). WMLs were identified using magnetic resonance imaging and graded qualitatively with the Breteler scale (no/slight changes = 0, moderate changes = 1, severe changes = 2) and semiquantitatively. RESULTS: The diabetic population had excellent glycemic control (HbA(1c), 6.5% [6.2-6.8]; median [interquartile range {IQR}]) and had, compared with the controls, lower office blood pressure (BP) (127 ± 12/79 ± 8 vs. 132 ± 14/84 ± 10 mmHg) and total cholesterol (4.3[3.9-4.7] vs. 5.6 [5.1-6.4]; mmol/L; median [IQR]), (P < 0.01 for all). Despite this, PWV was higher in the patients with diabetes compared with controls (9.3 ± 2.0 vs. 8.0 ± 1.6 m/s; P < 0.0001). PWV was associated with Breteler score (OR 1.36 [95% CI 1.17-1.58]; P < 0.001) and WML volume (OR 1.32 [95% CI 1.16-1.51]; P < 0.001) per 1 m/s increase in PWV. These associations remained significant when adjusted for age, sex, diabetes, 24-h mean arterial BP, BMI, heart rate, and use of antihypertensives and statins (Breteler score: OR 1.28 [95% CI 1.03-1.60]; P < 0.05 and WML volume: OR 1.30 [95% CI 1.06-1.58]; P < 0.05). CONCLUSIONS: PWV was higher among patients with well-controlled type 2 diabetes compared with controls and was independently associated with WMLs. PWV may represent a clinically relevant parameter in the evaluation of cerebrovascular disease risk in type 2 diabetes.
Assuntos
Encéfalo/patologia , Diabetes Mellitus Tipo 2/patologia , Diabetes Mellitus Tipo 2/fisiopatologia , Análise de Onda de Pulso , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rigidez Vascular/fisiologiaRESUMO
We present a case of a giant lymphatic malformation of the chest and abdominal wall that was diagnosed in the third trimester of pregnancy. It was treated by one stage excision with good functional and cosmetic outcomes.
Assuntos
Parede Abdominal/cirurgia , Anormalidades Linfáticas/cirurgia , Parede Torácica/cirurgia , Ultrassonografia Pré-Natal , Parede Abdominal/patologia , Adulto , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/cirurgia , Seguimentos , Humanos , Anormalidades Linfáticas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Gravidez , Resultado da Gravidez , Terceiro Trimestre da Gravidez , Doenças Raras , Medição de Risco , Índice de Gravidade de Doença , Parede Torácica/patologiaRESUMO
INTRODUCTION: Primary cerebral vasculitis in children is a newly recognized, rare inflammatory condition affecting the vessels of the brain. It is characterized by newly acquired neurological deficit(s) with angiographic or histological evidence of central nervous system (CNS) vasculitis, in the absence of other known diseases with these findings. MATERIAL AND METHODS: We performed a retrospective review of children below 15 years submitted with CNS vasculitis to the department between 1999 and 2008. RESULTS: Six (two boys, four girls) of ten children with clinical and vascular imaging findings detected by magnetic resonance were diagnosed with primary CNS vasculitis. Age at onset was three to 12 years. Acutely acquired hemiparesis was seen in five children, two had facial palsy. Among other symptoms were headache, ataxia, dysarthria, loss of consciousness and seizures. Only modest changes in blood and spinal fluid values were seen. On magnetic resonance angiography, varying segmental stenoses were found. All had supratentorial lesions, and in two patients infratentorial lesions were also detected by MRI. Monthly treatment with high-dose intravenous corticosteroids for six months was successful in most of the patients. In two patients with progressive CNS vasculitis, the treatment was supplemented by intravenous cyclophosphamide and azathioprin, respectively. CONCLUSION: Primary CNS vasculitis is an acutely acquired inflammatory disease with severe neurological deficits and sequelae which may have a fatal outcome. Despite this the prognosis is acceptable since event-free survival can be achieved in almost 70% if early immunosuppressive therapy is initiated.
Assuntos
Vasculite do Sistema Nervoso Central/diagnóstico , Azatioprina/uso terapêutico , Criança , Pré-Escolar , Ciclofosfamida , Intervalo Livre de Doença , Feminino , Humanos , Imunossupressores/uso terapêutico , Angiografia por Ressonância Magnética , Masculino , Prognóstico , Estudos Retrospectivos , Vasculite do Sistema Nervoso Central/tratamento farmacológico , Vasculite do Sistema Nervoso Central/mortalidadeRESUMO
Intraneural perineurioma is an uncommon benign neoplasm characterized by focal perineural cell proliferation. The typical course is indolent, with gradual onset and slow progression of motor loss. In early childhood, uncertainty concerning the time of onset can lead to difficulty in distinguishing this potential treatable lesion from congenital and other causes of nerve palsy. In the present case, clinical presentation, electrophysiologic findings, and magnetic resonance imaging findings in a child were compatible with intraneural perineurioma of the lumbosacral trunk and sciatic nerve. Initially, peroneal neuropathy was suspected. The case illustrates that sciatic intraneural perineuriomas do occur in early childhood, and that traction on the sciatic nerve may result in earlier damage to the peroneal nerve than to the tibial nerve, thus mimicking a more peripheral lesion.