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2.
NeuroRehabilitation ; 46(4): 529-537, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32538880

RESUMEN

BACKGROUND: Pisa syndrome (PS) is a clinical condition frequently associated with Parkinson's disease (PD). It is characterized by a trunk lateral flexion higher than 10 degrees and reversible when lying. One pathophysiological hypothesis is the altered verticality perception, due to a somatosensory impairment. Osteopathic Manipulative Treatment (OMT) manages fascial-system alterations, linked to somatic dysfunctions. Fascial system showed to be implicated in proprioceptive sensibility. OBJECTIVE: The aim of the study was to assess OMT efficacy on postural control in PD-PS patients by stabilometry. METHODS: In this single-blinded trial we studied 24 PD-PS patients, 12 of whom were randomly assigned to receive a multidisciplinary physical therapy protocol (MIRT) and sham OMT, while the other 12 received four OMT plus MIRT, for one month. The primary endpoint was the eye closed sway area assessment after the intervention. Evaluation of trunk lateral flexion (TLF) with DIERS formetrics was also performed. RESULTS: At one month, the sway area of the OMT group significantly decreased compared to placebo (mean delta OMT - 326.00±491.24 mm2, p = 0.01). In the experimental group TLF showed a mean inclination reduction of 3.33 degrees after treatment (p = 0.044, mean d = 0.54). Moreover, a significant positive association between delta ECSA and delta TLF was observed (p = 0.04, r = 0.46). DISCUSSION: Among PD-PS patients, MIRT plus OMT showed preliminary evidence of postural control and TLF improvement, compared to the control group.


Asunto(s)
Osteopatía/métodos , Enfermedad de Parkinson/terapia , Equilibrio Postural , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/patología , Postura
3.
Complement Ther Med ; 43: 49-52, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30935554

RESUMEN

BACKGROUND: The delayed transition from gavage-to-nipple feeding is one of the most significant factors that may prolong hospital length of stay (LOS). Osteopathic manipulative treatment (OMT) has been demonstrated to be effective regarding LOS reduction, but no investigations have documented its clinical validity for attaining oral feeding. OBJECTIVES: To assess OMT utility regarding the timing of oral feeding in healthy preterm infants. DESIGN: Preliminary propensity score-matched retrospective cohort study. SETTING: Data were extrapolated from the neonatal intensive care unit (NICU) of Del Ponte Hospital in Varese, Italy, during the period between March 2012 and December 2013. INTERVENTIONS: Two propensity score-matched groups of healthy preterm infants aged 28+0 to 33+6 were compared, observing those supported with OMT until hospital discharge and control subjects. MAIN OUTCOME MEASURES: Days from birth to the attainment of oral feeding was the primary endpoint. Body weight, body length, head circumference and LOS were considered as secondary endpoints. RESULTS: Seventy premature infants were included in the study as the control group (n = 35; body weight (BW) = 1457.9 ± 316.2 g; gestational age (GA) = 31.5 ± 1.73 wk) and the osteopathic group (n = 35; BW = 1509.6 ± 250.8 g; GA = 31.8 ± 1.64 wk). The two groups had analogous characteristics at study entry. In this cohort, we observed a significant reduction in TOF (-5.00 days; p = 0.042) in the osteopathic group with a greater effect in very low birth weight infants. CONCLUSIONS: These data demonstrate the utility and potential efficacy of OMT for the attainment of oral feeding. Further adequately powered clinical trials are recommended.


Asunto(s)
Conducta Alimentaria/fisiología , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Unidades de Cuidado Intensivo Neonatal , Italia , Tiempo de Internación , Masculino , Osteopatía/métodos , Estudios Retrospectivos
4.
J Autism Dev Disord ; 49(2): 632-646, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30203308

RESUMEN

Short-term low intensity parent implemented intervention studies for toddlers with autism spectrum disorder (ASD) have found it difficult to demonstrate significantly improved developmental scores or autism severity compared to community treatment. We conducted a randomized comparative intent-to-treat study of a parent implemented intervention to (1) test the effects of an enhanced version on parent and child learning, and (2) evaluate the sensitivity to change of proximal versus distal measures of child behavior. We randomized 45 children with ASD, 12-30 months of age, into one of two versions of parent-implemented Early Start Denver Model (P-ESDM), the basic model, in which we delivered 1.5 h of clinic-based parent coaching weekly, and an enhanced version that contained three additions: motivational interviewing, multimodal learning tools, and a weekly 1.5-h home visit. We delivered the intervention for 12 weeks and measured child and parent change frequently in multiple settings. We found a time-by-group interaction: parents in the enhanced group demonstrated significantly greater gains in interaction skills than did parents in the non-enhanced group. Both interventions were associated with significant developmental acceleration; however, child outcomes did not differ by group. We found a significant relationship between degree of change in parental interaction skill and rate of children's improvement on our proximal measure. Parents in both groups reported satisfaction with the intervention. These findings suggest that parent skills improved more in the enhanced group than the comparison group. Children in the two groups showed similar improvements. Rate of individual parent learning was associated with greater individual child progress on a measure quite proximal to the treatment, though not on standardized assessments.


Asunto(s)
Trastorno Autístico/terapia , Desarrollo Infantil , Intervención Educativa Precoz/métodos , Intervención Médica Temprana/métodos , Tutoría/métodos , Padres , Preescolar , Femenino , Humanos , Lactante , Masculino
5.
J Bodyw Mov Ther ; 22(2): 261-265, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29861217

RESUMEN

BACKGROUND: Coccydynia is a disorder associated with pain/discomfort at the base of the spine. The role of osteopathic manipulative treatment (OMT) in chronic coccydynia as well as for low back pain (LBP) and radicular pain (RP) associated with coccydynia, has not previously been investigated. This study seeks to analyse the effects of OMT on chronic coccydynia compared to physical therapy and pharmacological treatment (PTPT). The secondary objective is to analyse the effect of OMT on LBP and RP associated with coccydynia. METHODS: Clinical records of 50 patients were examined. These patients (aged 39.94 ± 15.34 years, BMI 21.22 ± 3.15) who complained of chronic coccydynia were assessed 3 times: before any treatment (t0), after PTPT (t1) and after OMT (t2). Patients were treated with PTPT during the first 3 months and then referred by physicians to osteopaths to receive 3 sessions of OMT over a period of 5 weeks. The outcome measurements were made by a visual analogue scale (VAS 0-10 cm) and the Oswestry Low Back Pain Disability Questionnaire. RESULTS: Before starting OMT treatment, patients showed a stable condition of coccydynia (mean VAS values from 7.1 to 6.5 p = 0.065) and a slight but significant reduction in disability (mean OD values from 17.7 to 14.5 p = 0.017) after PTPT. After the 3 sessions of OMT, all subjects gained a successful reduction in pain (mean VAS values from 6.5 to 1.2, p ≤ 0.001) and demonstrated a higher significant reduction in disability (mean Oswestry scale values from 14.5 to 2.5, p < 0.001). CONCLUSIONS: This case series shows that OMT elicits a positive benefit for pain relief and reduction in disability in patients complaining of coccydynia (with or without LBP and RP associated with coccydynia). Therefore, OMT could be considered as a valid therapeutic approach for treating chronic coccydynia. Nevertheless, further research is required to test the hypothesis and to better determine the benefits of OMT.


Asunto(s)
Dolor Crónico/terapia , Cóccix/lesiones , Dolor de la Región Lumbar/terapia , Osteopatía/métodos , Radiculopatía/terapia , Adulto , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Persona de Mediana Edad
6.
J Autism Dev Disord ; 44(12): 2981-95, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25212413

RESUMEN

The goal of early autism screening is earlier treatment. We pilot-tested a 12-week, low-intensity treatment with seven symptomatic infants ages 7-15 months. Parents mastered the intervention and maintained skills after treatment ended. Four comparison groups were matched from a study of infant siblings. The treated group of infants was significantly more symptomatic than most of the comparison groups at 9 months of age but was significantly less symptomatic than the two most affected groups between 18 and 36 months. At 36 months, the treated group had much lower rates of both ASD and DQs under 70 than a similarly symptomatic group who did not enroll in the treatment study. It appears feasible to identify and enroll symptomatic infants in parent-implemented intervention before 12 months, and the pilot study outcomes are promising, but testing the treatment's efficacy awaits a randomized trial.


Asunto(s)
Trastorno Autístico/diagnóstico , Trastorno Autístico/terapia , Intervención Médica Temprana/métodos , Padres , Factores de Edad , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Proyectos Piloto , Resultado del Tratamiento
7.
Res Dev Disabil ; 35(7): 1501-6, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24763375

RESUMEN

The aim of this study was to quantitatively evaluate the change in gait and body weight in the long term in patients with Prader-Willi Syndrome (PWS). Eight adults with PWS were evaluated at baseline and after 7 years. During this period patient participated an in- and out-patient rehabilitation programs including nutritional and adapted physical activity interventions. Two different control groups were included: the first group included 14 non-genetically obese patients (OCG: obese control group) and the second group included 10 age-matched healthy individuals (HCG: healthy control group). All groups were quantitatively assessed during walking with 3D-GA. The results at the 7-year follow-up revealed significant weight loss in the PWS group and spatial-temporal changes in gait parameters (velocity, step length and cadence). With regard to the hip joint, there were significant changes in terms of hip position, which is less flexed. Knee flexion-extension showed a reduction of flexion in swing phase and of its excursion. No changes of the ankle position were evident. As for ankle kinetics, we observed in the second session higher values for the peak of ankle power in terminal stance in comparison to the first session. No changes were found in terms of ankle kinetics. The findings demonstrated improvements associated to long-term weight loss, especially in terms of spatial-temporal parameters and at hip level. Our results back the call for early weight loss interventions during childhood, which would allow the development of motor patterns under normal body weight conditions.


Asunto(s)
Marcha/fisiología , Obesidad/genética , Síndrome de Prader-Willi/rehabilitación , Adulto , Articulación del Tobillo/fisiopatología , Fenómenos Biomecánicos/fisiología , Peso Corporal/fisiología , Dieta Reductora , Femenino , Estudios de Seguimiento , Articulación de la Cadera/fisiología , Humanos , Articulación de la Rodilla/fisiopatología , Masculino , Actividad Motora/fisiología , Fuerza Muscular/fisiología , Obesidad/diagnóstico , Obesidad/fisiopatología , Obesidad/rehabilitación , Modalidades de Fisioterapia , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/fisiopatología , Rango del Movimiento Articular/fisiología
8.
Eur J Phys Rehabil Med ; 48(2): 255-73, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22510675

RESUMEN

In the last decades, assessment of trunk posture and motion has gained importance in clinical practice, and several instrumental non-invasive techniques have been developed to overcome limitations of manual and radiological methods. Despite the large effort spent in improving the underlying technologies, the actual role of these measures in the clinical setting remains still undefined due to a variety of issues. The main question concerns the provision of parameters providing a significant contribution to the clinical decision making. In this paper, we review the available spine surface measurement techniques from a technical viewpoint, and point out their current and potential applications according to a clinical perspective. Conclusions are drawn on the basis of both the technical features and accessibility in daily clinical practice, as well as of the validity, reliability and clinical value of the provided parameters. A well-defined clinical role is established for surface topography in the follow-up of spine sagittal plane deformities, adulthood scoliosis and spine disorders involving the spino-pelvic alignment. Conversely, further studies are required to identify reliable key parameters for use in the clinical (adolescent scoliosis, back and neck pain), occupational (measurement of spine exposure to mechanical loads) and forensic (assessment of segmental functional impairments) fields.


Asunto(s)
Técnicas y Procedimientos Diagnósticos/instrumentación , Postura , Enfermedades de la Columna Vertebral/diagnóstico , Columna Vertebral/fisiología , Humanos , Reproducibilidad de los Resultados , Enfermedades de la Columna Vertebral/fisiopatología
9.
Sarcoidosis Vasc Diffuse Lung Dis ; 26(1): 54-63, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-19960789

RESUMEN

BACKGROUND AND AIM OF THE WORK: Carbohydrate antigen CA 15-3 is a glycoprotein whose expression, aberrant intracellular localization and changes in glycosylation have been associated with a wide range of cancers. Pulmonary fibrosis represents the final evolution of a chronic inflammation and is defined by the overgrowth of fibroblasts and exaggerated extracellular matrix deposition. The aim of the present study was to evaluate the possible diagnostic role of CA 15-3 in fibrosis in different idiopathic interstitial pneumonias. METHODS: CA 15-3 was measured in serum samples from healthy subjects (n=25) and patients affected with idiopathic pulmonary fibrosis (IPF/UIP) (n=20), sarcoidosis (n=22) at different stages (I, II, and III) and systemic sclerosis (n=25). CA 15-3 protein expression was also evaluated by immunohistochemistry in 21 lung biopsies and in 6 primary lung fibroblasts cell lines. RESULTS: The CA 15-3 serum levels were significantly higher in patients with IPF/UIP and with clinically advanced sarcoidosis (stage III). Serum CA 15-3 levels were slightly increased in patients with systemic sclerosis. No difference was observed between serum CA 15-3 levels in patients with sarcoidosis at stages I and II compared with control subjects. In IPF/UIP and in sarcoidosis at stage III elevated CA 15-3 serum levels significantly correlated with decreased total lung capacity, decreased diffusing capacity of carbon monoxide and high resolution computed tomography findings. Immunohistochemical analysis showed an intense specific CA 15-3 staining in fibroblasts within fibroblastic foci, surrounding sarcoid granulomas and in all cell cultures of lung fibroblasts from IPF/UIP lungs. CONCLUSIONS: Our results indicate that increased CA 15-3 levels are associated with pulmonary interstitial damage, fibroblast activity and progression to fibrosis of the lung. Therefore, CA-15-3 may be considered a sensitive marker useful in the identification of patients with advanced fibrosis and more severe prognosis.


Asunto(s)
Fibrosis Pulmonar Idiopática/inmunología , Pulmón/inmunología , Mucina-1/sangre , Sarcoidosis/inmunología , Esclerodermia Sistémica/inmunología , Adulto , Anciano , Biomarcadores/sangre , Biopsia , Estudios de Casos y Controles , Línea Celular , Ensayo de Inmunoadsorción Enzimática , Femenino , Fibroblastos/inmunología , Humanos , Fibrosis Pulmonar Idiopática/patología , Fibrosis Pulmonar Idiopática/fisiopatología , Inmunohistoquímica , Pulmón/patología , Pulmón/fisiopatología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Pruebas de Función Respiratoria , Sarcoidosis/patología , Sarcoidosis/fisiopatología , Esclerodermia Sistémica/patología , Esclerodermia Sistémica/fisiopatología , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X , Regulación hacia Arriba
10.
Eur J Phys Rehabil Med ; 45(3): 335-40, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19221547

RESUMEN

AIM: Neuro-muscular adaptations to the loss or increase in body weight may induce postural alterations. The aim of this study was to investigate the effect of body weight alterations on postural stability in patients with anorexia nervosa and bulimia. METHODS: The study enrolled 15 women affected by anorexia nervosa (AN), (mean body mass index [BMI] 15.8+/-1.8 kg/m(2)), 15 women affected by bulimia nervosa (BN), (mean BMI 20.1+/-2.9 kg/m(2)) and 11 healthy matched women (HC), (mean BMI 20.1+/-1 kg/m(2)). Two quiet standing conditions with eyes open (EO) and closed (EC) were analysed with an optoelectronic system (Vicon 460, Viconpeak, Oxford, UK) with passive markers to estimate the centre of mass (CoM) position. RESULTS: BN patients were more unstable than HC, showing statistically significant differences in antero-posterior CoM excursions and path length. AN patients showed non significant differences from HC. Only HC showed differences between EO and EC conditions, with significantly greater excursions in medio-lateral direction in EC condition (P<0.013) as well as an increased sway area (P<0.022). CONCLUSIONS: In BN, musculoskeletal factors seem to play a major role in the diminished postural control, which appear to be linked to body weight fluctuations rather than to BMI absolute values. No clear-cut postural instability was demonstrated in patients with AN as compared to HC. Visual input appears not to affect balance in patients with eating disorders. Possible further causes of postural instability in BN and implications for rehabilitation treatment are discussed.


Asunto(s)
Anorexia Nerviosa/fisiopatología , Bulimia Nerviosa/fisiopatología , Equilibrio Postural/fisiología , Adulto , Anorexia Nerviosa/rehabilitación , Fenómenos Biomecánicos/fisiología , Índice de Masa Corporal , Bulimia Nerviosa/rehabilitación , Estudios de Casos y Controles , Femenino , Humanos , Italia , Sistema Musculoesquelético/fisiopatología , Aumento de Peso/fisiología , Pérdida de Peso/fisiología
11.
J Endocrinol Invest ; 31(9): 765-72, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18997487

RESUMEN

BACKGROUND: Prader-Willi syndrome (PWS) is associated with an inappropriate proportion of fat mass (FM) to non-FM compared to simple obesity. Altered body composition in PWS resembles that seen in subjects with GH deficiency, in which a reduction of lean body mass (LBM) is observed. The low LBM may contribute to the reduced motor skills seen in PWS patients. AIM: The objective of the study was to investigate the effects of GH therapy on exercise capacity and body composition in a group of adult subjects with PWS. SUBJECTS AND METHODS: Twelve PWS adults (7 males and 5 females, aged 26.4+/-4.4 yr, body mass index 44.3+/-4.6 kg/m2) participated in the study. Body composition analysis and exercise stress test were carried out throughout the 12 months GH therapy. Body composition was measured by Dual Energy X-ray Absorptiometry. Physical performance was evaluated using treadmill exercise test. Exercise intensity was expressed as metabolic equivalents (MET, 1 MET= 3.5 ml O2 kg(-1) min(-1)). Statistical analysis was performed by repeated-measures analysis of variance followed by post-hoc analysis with t test for paired data for comparisons among the different follow ups. RESULTS: Compared to baseline GH therapy increased LBM at 6 (p<0.0001) and 12 months (p<0.005) (45.3+/-7.7 kg vs 48.6+/-6.7 kg vs 48.2+/-7.5 kg). FM% was significantly reduced both after 6 and 12 months (p<0.02) (56.1+/-4.8% vs 53.7+/-4.2% vs 53.3+/-4.8%). Attained MET were found to be improved by 16% after 6 months and by 19% after 12 months of GH (p<0.001), while the small further rise between 6 and 12 months was not significant. CONCLUSIONS: Our findings seem to support the view that GH therapy has beneficial effects on physical activity and agility as well as on body composition of adult patients with PWS.


Asunto(s)
Ejercicio Físico/fisiología , Terapia de Reemplazo de Hormonas/métodos , Hormona de Crecimiento Humana/administración & dosificación , Síndrome de Prader-Willi/tratamiento farmacológico , Síndrome de Prader-Willi/fisiopatología , Absorciometría de Fotón , Adulto , Análisis de Varianza , Antropometría , Composición Corporal/efectos de los fármacos , Composición Corporal/fisiología , Prueba de Esfuerzo , Femenino , Hormona de Crecimiento Humana/deficiencia , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Masculino , Adulto Joven
12.
J Appl Biomater Biomech ; 6(3): 178-85, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-20740463

RESUMEN

PURPOSE: Whether kinematic analysis of the trunk can provide useful clinical insight into the relationship between function and various spinal conditions is still under debate. The aim of this study was to develop a clinical protocol and an associated biomechanical model to characterize quantitatively the trunk movements in obese subjects. METHODS: Twenty (10 obese, 10 control) female subjects were evaluated with an optoelectronic system and passive markers attached to the spine during forward flexion, lateral bending, and rotation of the trunk. RESULTS: We found a systematic error due to skin artifacts of less than 5 degrees in both groups. Intra- and inter-subject standard deviation was less than 6 degrees . Obese subjects demonstrated a significantly reduced motion in the thoracic spine associated with an increased pelvic tilt angle as compared to controls. CONCLUSIONS: Our protocol was able to characterize trunk mobility in obese and normal subjects suggesting that kinematics could represent, even in an obese population, a promising method to investigate subclinical spinal disorders and to assess the effectiveness of rehabilitation programs.

13.
Eat Weight Disord ; 6(3): 166-70, 2001 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11589419

RESUMEN

Anxious and insecure attachment, fear of abandonment and difficulties with autonomy differentiate young women with eating disorders from their normal peers. This paper uses the Adult Attachment Interview (AAI) as the correlation between eating disorders and state of mind regarding attachment (7 females and 6 males) with anorexia nervosa and EDNOS. There was a higher frequency of dismissing or entangled states of mind. The sample is far too small to allow statistical inferences to be drawn about differences between men and women in the style of state of mind regarding attachment. An inference is none the less made with regard to the role of psychotherapy in these results.


Asunto(s)
Trastornos de Alimentación y de la Ingestión de Alimentos/psicología , Apego a Objetos , Adolescente , Adulto , Femenino , Humanos , Entrevista Psicológica , Masculino
15.
Radiol Med ; 96(4): 375-83, 1998 Oct.
Artículo en Italiano | MEDLINE | ID: mdl-9972218

RESUMEN

INTRODUCTION: Fine-needle aspiration biopsy (FNAB) plays an important role in the diagnosis of lung diseases. We report the results of 1605 CT-guided chest biopsies performed September, 1992, to December, 1997, and introduce a new method for specimen storage and handling. MATERIALS AND METHODS: A lubricated flexible connection was placed between the needle and the syringe to cushion the improper movements transmitted on the needle by the operator during aspiration. 22-G needles were most frequently used. The pathologist's report included not only the presence/absence of tumor cells, but also the presence of suspicious/questionable cells, which latter finding led to another biopsy in 152 cases. RESULTS: 64.7% of the lesions were < or = 3 cm and 55.5% were < or = 2 cm. Pneumothorax occurred in 16.0% of cases and it required a chest tube in 5.0%. The specimens were not smeared on a slide but kept in a test tube and quickly sent to the pathologist. 84.3% of the specimens were adequate for diagnosis and special care was given to typifying microcytoma/non-microcytoma histotypes, because treatment is different. 1003 of 1313 cases (76.38%) were true positives, 192 (14.2%) true negatives, 101 (7.69%) false negatives and 17 (1.92%) false positives. Sensitivity was 90.85%, specificity 91.86% and diagnostic accuracy 91.01%. The positive and the negative predictive values were 98.3% and 65.5%, respectively. CONCLUSIONS: The use of a 60 mL syringe with a flexible connection reduces the rate of complications (eg, pneumothorax, bleeding) and also the biopsy time. It also improved the sampling accuracy, cushioning any possible inappropriate movement by the operator, and finally improved the material aspiration thanks to better vacuum than with the 20-30 mL syringes which are usually placed into biopsy guns.


Asunto(s)
Biopsia con Aguja/métodos , Enfermedades Pulmonares/patología , Tomografía Computarizada por Rayos X , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Enfermedades Pulmonares/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Sensibilidad y Especificidad
16.
Neurology ; 48(5): 1200-3, 1997 May.
Artículo en Inglés | MEDLINE | ID: mdl-9153443

RESUMEN

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described inherited disorder. The pathologic gene maps on chromosome 19. The clinical spectrum of the disease consists of recurrent strokes, migraine, transient ischemic attacks, mood changes, and dementia. We report a genetically assessed CADASIL family with atypical clinical presentations of epileptic seizures. In two asymptomatic family members there were early brain abnormalities on MRI. Our report expands the clinical spectrum of CADASIL and suggests that it is possibly an undiagnosed disorder.


Asunto(s)
Encéfalo/patología , Trastornos Cerebrovasculares/diagnóstico , Trastornos Cerebrovasculares/genética , Genes Dominantes , Imagen por Resonancia Magnética , Adulto , Anciano , Arterias Cerebrales , Femenino , Ligamiento Genético , Haplotipos , Humanos , Escala de Lod , Masculino , Repeticiones de Microsatélite , Persona de Mediana Edad , Linaje
17.
Acta Neuropathol ; 92(2): 115-22, 1996 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8841656

RESUMEN

We report on two Italian families with an early-adult onset autosomal dominant disorder, characterized by leukoencephalopathy, migraine, psychiatric disturbances, stroke and dementia. These findings fulfill the diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome. Moreover, to confirm the CADASIL gene location to 19p12, we performed a linkage analysis with four microsatellite markers. The results of the genetic study gave positive but not significant lod scores, indicating only weak evidence of a linkage with 19p12. In one autopsy case, we found extensive ischemic changes due to the selective involvement of the small muscular arteries of the cerebral white matter. The lesions consisted of a thickening of the media with deposition of granular eosinophilic material. Ultrastructural examination of the arterial walls showed graded damage to smooth muscle cells, mostly of the longitudinal layer, and an abnormal proliferation of basal lamina components. Immunocytochemical analysis showed strong reactivity using antibodies to collagen IV and smooth myosin proteins. The results suggest a primary involvement of the smooth muscle cells of small cerebral arteries, with a secondary alteration of basal lamina components and elastic tissue.


Asunto(s)
Enfermedades Arteriales Cerebrales/genética , Enfermedades Arteriales Cerebrales/patología , Arterias Cerebrales/patología , Adulto , Anciano , Enfermedades Arteriales Cerebrales/inmunología , Arterias Cerebrales/inmunología , Arterias Cerebrales/ultraestructura , Trastornos Cerebrovasculares/genética , Trastornos Cerebrovasculares/patología , Demencia/genética , Demencia/patología , Femenino , Humanos , Inmunohistoquímica , Italia , Masculino , Persona de Mediana Edad , Linaje
20.
Acta Radiol Diagn (Stockh) ; 19(6): 933-44, 1978.
Artículo en Inglés | MEDLINE | ID: mdl-735845

RESUMEN

In 53 patients with possible pulmonary embolism, pulmonary abnormalities of 133Xe ventilation and 99Tcm albumin microsphere perfusion scintigraphy were compared with absence or presence of pulmonary emboli documented by concurrent pulmonary angiography. It was found that patients with combined scintigraphy considered as unlikely for pulmonary embolism (ventilation defect larger than perfusion defect) or indicative of pulmonary embolism (ventilation defect smaller than perfusion defect) provide high diagnostic specificity. Patients with equal ventilation-perfusion abnormalities (possible pulmonary embolism) require further evaluation by pulmonary angiography to ascertain diagnosis. Importantly, diagnostic accuracy, using ventilation-perfusion scintigraphy and the quantified method of evaluation delineated, is preserved in patients with severe congestive heart failure.


Asunto(s)
Arteria Pulmonar/diagnóstico por imagen , Embolia Pulmonar/diagnóstico por imagen , Relación Ventilacion-Perfusión , Adulto , Cateterismo Cardíaco , Insuficiencia Cardíaca/diagnóstico por imagen , Hemodinámica , Humanos , Microesferas , Persona de Mediana Edad , Embolia Pulmonar/fisiopatología , Radiografía , Cintigrafía , Tecnecio , Radioisótopos de Xenón
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