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1.
NMR Biomed ; : e5175, 2024 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-38757789

RESUMEN

Magnetic resonance imaging (MRI) and cognitive profiles in patients with mild traumatic brain injury (mTBI) are often discordant. Conventional MRI seldom captures the full extent of pathological changes in the normal-appearing white matter (NAWM). The divided subtracted inversion recovery (dSIR) technique may enhance T1 differences in NAWM, making them easily visible. We aimed to implement dSIR on a clinical scanner and tested results in mTBI patients. To produce dSIR images, Inversion Recovery-Turbo Spin Echo sequences were modified using six different inversion times (TI) on a 3-T scanner in healthy participants and patients with mTBI. The multiple TIs determined normal white (TIshort) and gray matter (TIlong) nulling points in healthy subjects, which were used to create dSIR images. In one patient, the protocol was repeated at 3 months to identify changes after rehabilitation. Diffusion tensor imaging (DTI)-derived mean diffusivity (MD) and fractional anisotropy (FA) maps were aligned to dSIR images to ensure that signal was not artefactual. Ten healthy participants (five females; age 24 ± 3 [95% CI: 21, 26] years) were included. TIshort and TIlong were set at 450 and 750 ms, respectively. In both patients (one male, age 17 years; one female, age 14 years), dSIR images revealed areas with increased T1 in the NAWM not visible on conventional MRI. dSIR-based hyperintensities corresponded to elevated MD and reduced FA. Substantial changes were found at follow-up with improvement in DTI-based parameters. dSIR images enhance subtle changes in the NAWM of patients with mTBI by amplifying their intrinsic T1 signal.

2.
Brain Inj ; 33(12): 1522-1528, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31446793

RESUMEN

Objective: Studies on pediatric severe acquired brain injury (sABI) outcomes focused mostly on single etiologies, not clarifying the independent role of clinical factors, and scantly explored inter-dependence between variables. We assessed associations of clinical factors at admission with essential outcomes, controlling for inter-dependence and sABI etiology. Methods: We reviewed the clinical records of 280 patients with traumatic and 292 with non-traumatic sABI, discharged from intensive care to pediatric neurological rehabilitation. We analyzed the distribution of clinical factors based on sABI etiology; conducted a factor analysis of variables; built multivariate models evaluating the associations of variables with death, persistent vegetative states, duration of coma, GOS outcome, length of stay. Results: We described the study sample. Factor analysis of inter-dependence between GCS, time before rehabilitation, dysautonomia, device use, produced the indicators "injury severity" and "neurological dysfunction", independent from sABI etiology, age, sex, and admittance GOS. Multivariate analyzes showed that: coma duration, GOS outcome, and length of stay, which may depend on rehabilitation courses, were directly associated with injury severity, neurological dysfunction, and patients' age; death and persistent vegetative states were also associated with etiology. Conclusion: Future studies should analyze larger cohorts and investigate mechanisms linking specific etiologies and patients' age with outcomes.


Asunto(s)
Lesiones Encefálicas/etiología , Lesiones Encefálicas/rehabilitación , Niño , Preescolar , Femenino , Humanos , Masculino , Rehabilitación Neurológica , Recuperación de la Función , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento
3.
J Head Trauma Rehabil ; 32(2): 117-124, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27603764

RESUMEN

OBJECTIVE: Information on course and treatment of paroxysmal sympathetic hyperactivity (PSH) during rehabilitation and in pediatric patients is lacking. To increase knowledge on the course and treatment of PSH in pediatric patients during rehabilitation, we retrospectively analyzed 23 pediatric patients with PSH, describing the course of PSH and administered drugs, and explored the association of PSH remission with drug doses. SETTING: Neurorehabilitation unit of IRCCS Eugenio Medea, Bosisio Parini (LC), Italy. PARTICIPANTS: Twenty-three pediatric patients with postacute acquired brain injury, who remitted from PSH. DESIGN: Retrospective cohort study. MAIN MEASURES: Description of features and course of PSH, description of drug therapies, and analysis of covariance of their doses. Correlations between remission and drug doses/clinical variables. Estimation of the odds ratios of remission. RESULTS: At admittance patients displayed at least 3 features of PSH with an overall score of 9, which diminished progressively during remission. Therapies with propranolol, baclofen, niaprazine, and diazepam were progressively uptitrated, indicating potential usefulness. When testing possible predictors of remission, we found positive effects of propranolol and diazepam and of traumatic etiology and a negative effect of maximum PSH severity. CONCLUSIONS: Results should be interpreted carefully regarding causal relationships and drug doses and combinations, but they encourage further studies on the use of propranolol and diazepam to favor PSH remission.


Asunto(s)
Ansiolíticos/uso terapéutico , Lesiones Traumáticas del Encéfalo/complicaciones , Lesiones Traumáticas del Encéfalo/rehabilitación , Agitación Psicomotora/tratamiento farmacológico , Agitación Psicomotora/etiología , Análisis de Varianza , Lesiones Traumáticas del Encéfalo/diagnóstico , Niño , Preescolar , Estudios de Cohortes , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Escala de Coma de Glasgow , Humanos , Puntaje de Gravedad del Traumatismo , Italia , Masculino , Rehabilitación Neurológica/métodos , Pruebas Neuropsicológicas , Oportunidad Relativa , Agitación Psicomotora/fisiopatología , Estudios Retrospectivos , Medición de Riesgo , Resultado del Tratamiento
4.
J Head Trauma Rehabil ; 30(5): 357-63, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25310291

RESUMEN

OBJECTIVE: Paroxysmal sympathetic hyperactivity (PSH) is widely described as occurring during intensive care, but in a number of patients it may last longer into the rehabilitation phase. Furthermore, drug therapy has been based on isolated observations. In this study, our aims are to describe a group of 26 pediatric rehabilitation patients with PSH and to quantify the effect of several drugs used to suppress PSH episodes. SETTING: Neurorehabilitation unit of IRCCS Eugenio Medea, Bosisio Parini (LC), Italy. PARTICIPANTS: A total of 407 pediatric patients with postacute acquired brain injury, 26 of which had PSH. DESIGN: Retrospective cohort study. MAIN MEASURES: Descriptive demographic and clinical data. Odds ratios quantification of the efficacy of drug therapies administered acutely to suppress PSH episodes. RESULTS: PSH was associated with a longer duration of coma and a greater incidence of death. When administered acutely to suppress PSH episodes, the best drugs were clonazepam, hydroxyzine, and delorazepam, while analgesic drugs showed little efficacy. CONCLUSIONS: PSH, whether causative or not, is associated with a worse long-term course in rehabilitation. Clinical management of PSH may be helped by a number of acutely administered drug therapies.


Asunto(s)
Enfermedades del Sistema Nervioso Autónomo/tratamiento farmacológico , Lesiones Encefálicas/complicaciones , Lesiones Encefálicas/psicología , Hipercinesia/fisiopatología , Rehabilitación Neurológica/métodos , Acetaminofén/uso terapéutico , Adolescente , Atención Ambulatoria/métodos , Enfermedades del Sistema Nervioso Autónomo/etiología , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Benzodiazepinas/uso terapéutico , Lesiones Encefálicas/rehabilitación , Estudios de Casos y Controles , Niño , Preescolar , Clonazepam/uso terapéutico , Femenino , Estudios de Seguimiento , Humanos , Hipercinesia/tratamiento farmacológico , Hipercinesia/etiología , Puntaje de Gravedad del Traumatismo , Italia , Masculino , Centros de Rehabilitación , Estudios Retrospectivos , Medición de Riesgo , Resultado del Tratamiento
5.
Children (Basel) ; 11(3)2024 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-38539339

RESUMEN

Traumatic brain injury is often accompanied by defects in hormone levels, caused by either peripheral gland dysfunctions or by an insufficient central stimulation of hormone production. The epidemiology of endocrinological defects after traumatic brain injury is quite well described, but the consequences of hormone defects are largely unknown, especially in paediatric patients undergoing neurological rehabilitation. Only one previous study reported on a cohort of 20 children with traumatic brain injury and found a low incidence of hormone defects and a correlation between some hormone levels and neurological recovery. In this study, we performed a retrospective chart review on patients affected by severe subacute traumatic brain injury. Their levels of cortisol, ACTH, IGF-1, TSH, free T4, free T3, and prolactin were collected and compared with reference ranges; we then used regression models to highlight any correlation among them and with clinical variables; last, we probed with regression models whether hormone levels could have any correlation with clinical and rehabilitation outcomes. We found eligible data from the records of 52 paediatric patients with markedly severe traumatic brain injury, as shown by an average GCS of 4.7; their age was 10.3 years, on average. The key results of our study are that 32% patients had low IGF-1 levels and in multiple regression models, IGF-1 levels were correlated with neurological recovery, indicating a possible role as a biomarker. Moreover, 69% of patients had high prolactin levels, possibly due to physical pain and high stress levels. This study is limited by the variable timing of the IGF-1 sampling, between 1 and 2 months after injury. Further studies are required to confirm our exploratory findings.

6.
Brain Sci ; 13(7)2023 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-37508935

RESUMEN

BACKGROUND: Recent studies suggest that acquired brain injury with impaired consciousness in infancy is related to more severe and persistent effects and may have a cumulative effect on ongoing development. In this work, we aim to describe vocational outcome in a group of patients at 15 years from a severe brain lesion they suffered in developmental age. METHODS: This study included a total of 147 patients aged 1.5 to 14 years with acquired brain lesion. Clinical and functional details ("Glasgow Outcome Scale", "Functional Independent Measure" and Intelligence Quotient) were collected at the time of their first hospitalization and vocational outcome was determined after 15 years. RESULTS: 94 patients (63.9%) presented with traumatic brain injury, while 53 patients (36.1%) presented with a brain lesion of other origin. Traumatic patients had a higher probability of being partly or fully productive than non-traumatic ones: 75.5% of traumatic subjects were working-taking into account limitations due to the traumatic event-versus 62.3% of non-traumatic ones. A relationship between some clinical variables and the vocational outcome was found. CONCLUSIONS: Rehabilitation should adequately emphasize "vocational rehabilitation" because a significant proportion of people experiencing a disorder of consciousness in childhood may show good social integration in adult age.

7.
Epileptic Disord ; 24(1): 176-182, 2022 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-34787083

RESUMEN

Dynamin-1-like (DNM1L) is a gene located on chromosome 12p11.21 that encodes for dynamin-related protein (DRP1), a GTPase involved in mitochondrial and peroxisomal fusion, which plays a pivotal role in brain development. The missense variant, p.Arg403Cys, is clinically associated with childhood-onset super-refractory status epilepticus, with either subsequent poor neurological outcome or death (described in 13 patients). We present a 20-year-old girl carrying this mutation with a history of two episodes of super-refractory focal myoclonic status epilepticus which manifested as epilepsia partialis continua (EPC) with a 13-year interval, during which she displayed moderate intellectual disability, social and school reintegration, without complete control of myoclonic manifestations. The first status, which occurred at the age of six, was associated with transient left side thalamic involvement and the second episode with right side transient basal ganglia hyperintensity on MRI. After the second status, a persistent vegetative state with both drug-resistant epilepsia partialis continua and reticular myoclonus endured; the MRI showed progressive brain atrophy. In contrast to previous published cases, this new case of childhood-onset DNM1L encephalopathy demonstrated biphasic clinical progression. The main features of our patient were EPC, super-refractory status epilepticus, and transient and migrating subcortical thalamic hyperintensity on MRI at onset. The unusual clinical course is also noticeable, indicating possible epigenetic and/or protective factors, without underestimating the progressive and genetic basis of this encephalopathy. Precise characterization of seizures and whole-exome sequencing are crucial in order to establish early diagnosis.


Asunto(s)
Dinaminas , Epilepsia Parcial Continua , Dinaminas/genética , Epilepsia Parcial Continua/diagnóstico , Epilepsia Parcial Continua/genética , Femenino , Humanos , Remisión Espontánea , Estado Epiléptico/etiología , Estado Epiléptico/genética , Adulto Joven
8.
Paediatr Drugs ; 23(1): 75-86, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33230677

RESUMEN

INTRODUCTION: Patients with severe acquired brain injuries require drug therapies in intensive care for life support and injury treatment. Patients who then access rehabilitation usually maintain their drug treatments long term, with a potential influence on the rehabilitation course. Whereas drug effects have been reported for specific drugs and clinical issues in adults, comprehensive data on pediatric patients with traumatic and non-traumatic injuries are scant. OBJECTIVES: The aims of this study were to describe the therapeutic classes and groups of drugs prescribed to pediatric inpatients recovering from severe acquired brain injury when they enter rehabilitation; to assess whether clinical variables may determine the use of drug classes; and to assess whether the use of drug classes may be associated with differences in rehabilitation outcomes. METHODS: We carried out a retrospective chart review, following a previous study on the clinical-epidemiological characteristics of our patients. We collected information on drug therapies present at admittance to rehabilitation and analyzed their distribution according to therapeutic classes and groups. We verified the associations of drug groups with clinical variables (putatively antecedents to drug use) and with rehabilitation outcomes (putatively resultant of drug use and of clinical variables) in regression models. The clinical variables considered were injury etiology, Glasgow Outcome Score (GOS) at admittance to rehabilitation, sex, age at injury, plus two aggregate factors resulting from the previous work, 'neurological dysfunction' regarding the use of devices and 'injury severity' regarding the neurological status. The rehabilitation outcomes used were death after rehabilitation, persistence of a vegetative/minimally conscious state, coma duration, duration of the rehabilitation stay, rehabilitation efficiency (GOS at discharge minus GOS at admittance, divided by the length of rehabilitation stay). RESULTS: We described the distribution of drug classes and groups among pediatric patients with severe acquired brain injuries. Regarding the associations between drug classes and clinical variables, we found greater use of cardiovascular agents with higher patient age, 'neurological dysfunction' score, and with an etiology of hypoxic brain injury. The use of antithrombotic agents was greater with higher patient age and 'neurological dysfunction' score. Glucocorticoid use was greater with higher GOS at admittance and with several etiologies: brain tumor, infective encephalitis, and autoimmune encephalitis. Regarding drug classes and rehabilitation outcomes, we found that the use of cardiovascular drugs was associated with increased occurrence of death after rehabilitation. The use of antispastic drugs was associated with a more frequent permanence in vegetative/minimally conscious states. The use of antispastic drugs and melatonin was associated with longer coma duration. The use of glucocorticoid drugs was associated with decreased rehabilitation efficiency. CONCLUSIONS: We provided a description of drug use in pediatric rehabilitation after severe acquired brain injuries, which was lacking in the literature. Prospective studies should verify our associative observations regarding clinical variables, drugs use, and outcomes, to assess causality.


Asunto(s)
Lesiones Encefálicas/tratamiento farmacológico , Lesiones Encefálicas/epidemiología , Lesiones Encefálicas/rehabilitación , Resultado del Tratamiento , Adolescente , Femenino , Hospitalización , Humanos , Masculino , Estudios Retrospectivos
10.
Brain Sci ; 10(3)2020 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-32178348

RESUMEN

The present study aimed to: (a) characterize the emergence to a conscious state (CS) in a sample of children and adolescents with severe brain injury during the post-acute rehabilitation and through two different neuropsychological assessment tools: the Rappaport Coma/Near Coma Scale (CNCS) and Level of Cognitive Functioning Assessment Scale (LOCFAS); (b) compare the evolution in patients with brain lesions due to traumatic and non-traumatic etiologies; and (c) describe the relationship between the emergence to a CS and some relevant clinical variables. In this observational prospective longitudinal study, 92 consecutive patients were recruited. Inclusion criteria were severe disorders of consciousness (DOC), Glasgow Coma Scale (GCS) score ≤8 at insult, age 0 to 18 years, and direct admission to inpatient rehabilitation from acute care. The main outcome measures were CNCS and LOCFAS, both administered three and six months after injury. The cohort globally shifted towards milder DOC over time, moving from overall 'moderate/near coma' at three months to 'near/no coma' at six months post-injury. The shift was captured by both CNCS and LOCFAS. CNCS differentiated levels of coma at best, while LOCFAS was superior in characterizing the emergence from coma. Agreement between scales was fair, and reduced negative findings at less than 10%. Patients with traumatic brain injury (TBI) vs. non-traumatic brain injury (NTBI) were older and had neurosurgical intervention more frequently. No relation between age and the level of consciousness was found overall. Concurrent administration of CNCS and LOCFAS reduced the rate of false negatives and better detected signs of arousal and awareness. This provides indication to administer both tools to increase measurement precision.

11.
Brain Inj ; 23(9): 751-9, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19637000

RESUMEN

OBJECTIVE: The aims were: (1) to quantify the functional limitation of children at the beginning of recovery of independent ambulation after Traumatic Brain Injury (TBI), using clinical-functional scales; (2) to evaluate the changes in gait pattern during rehabilitation (about 5 months later), using 3D Gait Analysis (GA) in post-acute phase; (3) to investigate the presence of correlation among parameters obtained by 3DGA, clinical assessment and measures connected with the trauma. METHODS: Fourteen children with hemiplegia after severe TBI were evaluated at independent gait recovery (S0) and 5.5 months later (S1) by clinical assessment (GOS, DRS, WeeFIM and GMFM) and 3D GA (spatio-temporal parameters, kinematics and kinetics). RESULTS: At S1 all clinical measures had improved. Regarding spatio-temporal parameters, velocity and step length improved. Significant progress was evident at the ankle joint, while an unchanged condition appeared at pelvis and hip in sagittal plane with a worsening of hip rotation which increased its internal rotation. Significant correlations were found between motor performance, clinical assessment and trauma-related measures. CONCLUSIONS: Repeated GA and clinical evaluations were useful in quantifying the motor recovery of children with TBI during rehabilitation underpinning the role of GA in quantifying these modifications in an objective and non-invasive way.


Asunto(s)
Lesiones Encefálicas/fisiopatología , Trastornos Neurológicos de la Marcha/fisiopatología , Hemiplejía/rehabilitación , Actividad Motora/fisiología , Lesiones Encefálicas/rehabilitación , Niño , Preescolar , Femenino , Trastornos Neurológicos de la Marcha/rehabilitación , Hemiplejía/fisiopatología , Humanos , Masculino , Pruebas Neuropsicológicas , Valores de Referencia
12.
Clin Nutr ; 38(3): 1240-1245, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-29803667

RESUMEN

BACKGROUND & AIMS: Urolithiasis affects pediatric patients with severe acquired brain injury, in whom the role of several clinical variables and of the presence and composition of enteral nutrition has not been investigated. METHODS: Retrospective chart review on 371 pediatric patients with severe acquired brain injury. We used an essential electronic database to check the association between stones and enteral feeding. We then picked at random paper clinical records until we collected 20 and 20 complete records for patients with/without stones, not matched. With that information, we tested the association of stones with: nutrition facts of enteral formulae (sodium, potassium, calcium, magnesium, phosphorus, proteins, vitamin C); bladder dysfunction, urinary infections, catheterisms, tracheostomy, gallstones, way of feeding; blood and urine exams before stones diagnosis; age, type and severity of injury; prior physical activity, relevant drugs. RESULTS: All patients with stones were fed enterally. At univariate statistics they were older, weighed more, received bigger volumes of hydration and nutrition; they had worse GCS, more UTIs and they alone received catheterisms; their nutrition mixes were richer in sodium. In multivariate logistic regression for stone development, UTIs (OR 11.4, 95% C.I. 1.6-83.4) and higher sodium nutrition content (OR 7.5, 95% C.I. 1.6-34.3) were risk factors; higher GCS (OR 0.66, 95% C.I. 0.43-0.99) and higher calcium nutrition content (OR 0.14, 95% C.I. 0.03-0.73) were protective factors. CONCLUSIONS: Besides known risk factors for urolithiasis, including UTIs, catheterisms, worse neurological states, also enteral nutrition was a risk factor, particularly with higher sodium and lower calcium contents. Future studies should test the effect of different sodium/calcium nutrition contents on lithogenesis.


Asunto(s)
Lesiones Encefálicas/rehabilitación , Nutrición Enteral , Urolitiasis , Niño , Preescolar , Electrólitos/sangre , Nutrición Enteral/efectos adversos , Nutrición Enteral/estadística & datos numéricos , Humanos , Lactante , Estado Nutricional , Estudios Retrospectivos , Factores de Riesgo , Urolitiasis/epidemiología , Urolitiasis/etiología
13.
J Clin Sleep Med ; 15(2): 351-354, 2019 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-30736882

RESUMEN

ABSTRACT: Respiratory disorders may follow brain injury and may also occur because of comorbidities and drug use, especially central depressants or muscle relaxants. Sleep can precipitate respiratory disorders, thus polysomnography can be a powerful diagnostic tool. By revealing breathing patterns that identify specific sleep disorders, polysomnography may unmask adverse pharmacological effects, for instance connecting central depressant drugs with central sleep apneas. We describe the case of a pediatric patient in rehabilitation from brain injury who developed a central sleep apnea following a baclofen dose increase within the therapeutic range, while assuming an under-dosed benzodiazepine. Polysomnography identified a typical respiration pattern, previously observed in adults treated with baclofen and other central depressants. Baclofen tapering resolved the central sleep apnea. Polysomnography, and this specific pattern, may be proposed as diagnostic tools in patients with high dose baclofen that can be used to prevent potential respiratory disorders in children.


Asunto(s)
Baclofeno/efectos adversos , Polisomnografía , Apnea Central del Sueño/inducido químicamente , Baclofeno/administración & dosificación , Niño , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Inyecciones Espinales , Polisomnografía/efectos de los fármacos , Apnea Central del Sueño/diagnóstico
14.
J Hypertens ; 26(8): 1563-70, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18622233

RESUMEN

OBJECTIVE: To investigate the ability of BMI and waist circumference, single and combined, in identifying children who are at risk of hypertension and in influencing absolute blood pressure values. METHODS: The body weight, height, waist circumference and blood pressure of 4177 5-11-year-old school children [2005 (48%) girls] were collected. Elevated blood pressure was defined if either systolic or diastolic blood pressure values or both were more than the 95th percentile according to sex, age and height (US normative blood pressure tables). Overweight and obese children were defined according to International Obesity Task Force BMI cut-offs. RESULTS: The prevalence of hypertension was 4.1% and increased together with weight class: 1.4% (n = 42/3076) in normal weight, 7.1% (n = 59/827) in overweight and 25% (n = 69/274) in obese (P < 0.001). Only BMI and waist circumference showed a remarkable ability to discriminate hypertensive children (areas under receiver operating characteristic curves, 0.84 and 0.76, respectively). The multivariate analysis showed that z-scores for both BMI and waist circumference were significantly related to the risk of hypertension with odds ratios of 3.59 (95% confidence interval, 2.55, 5.06) and 1.20 (95% confidence interval, 1.04, 1.39), respectively, after adjusting for sex and age. When the weight class was included in the multivariate analysis, waist circumference retained its ability to identify hypertensive children only in the obese class (odds ratio, 1.44; 95% confidence interval, 1.21, 1.72; P < 0.01). When considering blood pressure as a continuous variable, both weight class and waist circumference showed a significant effect on systolic and diastolic blood pressure absolute values (P < 0.01). The effect of waist circumference on blood pressure values was maintained even when corrected for BMI. CONCLUSION: High blood pressure is strongly associated with excess weight. Waist circumference improves the ability of BMI to identify hypertension in obese children. Waist circumference is related to absolute blood pressure values in all weight classes.


Asunto(s)
Hipertensión/diagnóstico , Hipertensión/epidemiología , Obesidad/diagnóstico , Obesidad/epidemiología , Relación Cintura-Cadera , Presión Sanguínea , Índice de Masa Corporal , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Modelos Logísticos , Masculino , Análisis Multivariante , Prevalencia , Factores de Riesgo
16.
Dev Neurorehabil ; 21(7): 449-456, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28816566

RESUMEN

PURPOSE: The description of motor changes and clinical evolution of a pediatric cohort with acquired brain injury (ABI) over 5 years by the functional independence measure for children (WeeFIM). METHODS: We analyzed retrospective data from 496 patients (aged 0-18 years) with severe ABI admitted for rehabilitation. WeeFIM scores and disability rating scale (reference scale) were collected at admission, discharge and yearly, up to year 5. RESULTS: Functional limitations gradually reduced after ABI, but children still had residual disabilities at the endpoint. Seventeen percent of patients demonstrated no improvement at WeeFIM. Gait analysis showed that decreased WeeFIM scores in the mobility domain are associated with slower and shorter steps, and increased step width, compensating for imbalance. CONCLUSIONS: Five years after ABI, improvement is still found in the mobility domain of WeeFIM. This work adds evidence that margin still exists at least until year 5 after injury for profitably continuing the rehabilitation effort.


Asunto(s)
Lesiones Traumáticas del Encéfalo/rehabilitación , Destreza Motora , Adolescente , Envejecimiento , Lesiones Traumáticas del Encéfalo/psicología , Niño , Preescolar , Evaluación de la Discapacidad , Femenino , Marcha , Humanos , Vida Independiente , Lactante , Masculino , Limitación de la Movilidad , Equilibrio Postural , Estudios Retrospectivos , Resultado del Tratamiento
17.
J Healthc Eng ; 2018: 4208492, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29732047

RESUMEN

Acquired brain injuries (ABIs) can lead to a wide range of impairments, including weakness or paralysis on one side of the body known as hemiplegia. In hemiplegic patients, the rehabilitation of the upper limb skills is crucial, because the recovery has an immediate impact on patient quality of life. For this reason, several treatments were developed to flank physical therapy (PT) and improve functional recovery of the upper limbs. Among them, Constraint-Induced Movement Therapy (CIMT) and robot-aided therapy have shown interesting potentialities in the rehabilitation of the hemiplegic upper limb. Nevertheless, there is a lack of quantitative evaluations of effectiveness in a standard clinical setting, especially in children, as well as a lack of direct comparative studies between these therapeutic techniques. In this study, a group of 18 children and adolescents with hemiplegia was enrolled and underwent intensive rehabilitation treatment including PT and CIMT or Armeo®Spring therapy. The effects of the treatments were assessed using clinical functional scales and upper limb kinematic analysis during horizontal and vertical motor tasks. Results showed CIMT to be the most effective in terms of improved functional scales, while PT seemed to be the most significant in terms of kinematic variations. Specifically, PT resulted to have positive influence on distal movements while CIMT conveyed more changes in the proximal kinematics. Armeo treatment delivered improvements mainly in the vertical motor task, showing trends of progresses of the movement efficiency and reduction of compensatory movements of the shoulder with respect to other treatments. Therefore, every treatment gave advantages in a specific and different upper limb district. Therefore, results of this preliminary study may be of help to define the best rehabilitation treatment for each patient, depending on the goal, and may thus support clinical decision.


Asunto(s)
Lesiones Encefálicas/rehabilitación , Hemiplejía/rehabilitación , Rehabilitación Neurológica/métodos , Extremidad Superior/fisiopatología , Adolescente , Fenómenos Biomecánicos/fisiología , Niño , Dispositivo Exoesqueleto , Femenino , Humanos , Masculino , Rehabilitación Neurológica/instrumentación , Rango del Movimiento Articular/fisiología
18.
Pediatr Pulmonol ; 52(11): 1509-1517, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28950420

RESUMEN

OBJECTIVES: We assessed the performance of a tracheostomy decannulation protocol privileging safety over quickness, in pediatric patients undergoing rehabilitation from severe acquired brain injury. We analyzed factors associated with decannulation timing and possibility and examined cases of failure. HYPOTHESIS: A safe decannulation protocol should minimize failures. STUDY DESIGN: Retrospective observational study. PATIENT SELECTION: Patients aged 0-17 admitted to rehabilitation with tracheostomy in the last 15 years (n = 123). METHODOLOGY: We collected data on clinical and respiratory conditions at admittance, during the first rehabilitation stay and following follow-up controls. We described the sample and tested associations of several factors with the possibility to decannulate patients during either the first stay or follow-up. We described failures, defined as the cases in which tracheostomy tube had to be placed back immediately or after less than 1 month from removal. RESULTS: At admittance, 93.5% patients were dysphagic and 37.9% had respiratory complications (mainly accumulation of supraglottic secretions). At first discharge, dysphagia was reduced (62.1%) and respiratory complications increased (41.1%). Tracheostomy was removed during the first stay in 55.3% patients, during follow-up in 13%, without failures among the 80 patients who followed the protocol. Four decannulations performed against protocol recommendations resulted in three failures. Decannulation was mainly prevented by the persistence of respiratory complications and dysphagia that constituted a relevant risk of aspiration and suffocation; decannulation was mainly postponed because of respiratory complications and breath-holding spells in very young children. CONCLUSIONS: By applying a decannulation protocol that privileges safety over quickness, we encountered no failure. Respiratory complications and dysphagia that lead to supraglottic stagnation, and breath-holding spells, are key elements to consider before performing decannulation in pediatric patients.


Asunto(s)
Extubación Traqueal/métodos , Lesiones Encefálicas/rehabilitación , Remoción de Dispositivos/métodos , Traqueostomía/métodos , Adolescente , Niño , Preescolar , Trastornos de Deglución , Femenino , Hospitalización , Humanos , Masculino , Alta del Paciente
19.
Arch Neurol ; 63(5): 750-5, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16682546

RESUMEN

BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases. OBJECTIVE: To search for disease-causing mutations in a large series of Italian patients with HSP. DESIGN: Samples of DNA were analyzed by direct sequencing of all exons in SPG4. Samples from a subset of patients were also analyzed by direct sequencing of all exons in SPG3A, SPG6, SPG10, and SPG13. SETTING: Molecular testing facility in Italy. PATIENTS: Sixty unrelated Italian patients with pure (n = 50) and complicated (n = 10) HSP. MAIN OUTCOME MEASURES: Mutations in SPG4, SPG3A, SPG6, SPG10, and SPG13. RESULTS: We identified 12 different mutations, 8 of which were novel, in 13 patients. No mutations of any of the other HSP genes tested were found in 15 patients with sporadic pure HSP who did not have mutations in the SPG4 gene. CONCLUSIONS: The overall rate of mutation in the SPG4 gene within our sample was 22%, rising to 26% when only patients with pure HSP were considered. The negative result obtained in 15 patients without mutations in SPG4 in whom 4 other genes were analyzed (SPG3A, SPG6, SPG10, and SPG13) indicate that these genes are not frequently mutated in sporadic pure HSP.


Asunto(s)
Adenosina Trifosfatasas/genética , Mutación , Paraplejía Espástica Hereditaria/genética , Adulto , Anciano , Análisis Mutacional de ADN/métodos , Exones , Salud de la Familia , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Paraplejía Espástica Hereditaria/clasificación , Espastina
20.
FASEB J ; 19(7): 866-8, 2005 May.
Artículo en Inglés | MEDLINE | ID: mdl-15728662

RESUMEN

Extremely variable clinic and genetic features characterize mitochondrial encephalomyopathy (MEM). Pathogenic mitochondrial DNA (mtDNA) defects can be divided into large-scale rearrangements and single point mutations. Clinical manifestations become evident when a threshold percentage of the total mtDNA is mutated. In some MEM, the "mutant load" in an affected tissue is directly related to the severity of the phenotype. However, the clinical phenotype is not simply a direct consequence of the relative abundance of mutated mtDNA. Other factors, such as nuclear background, can contribute to the disease process, resulting in a wide range of phenotypes caused by the same mutation. Using Affymetrix oligonucleotide cDNA microarrays (HG-U133A), we studied the gene expression profile of muscle tissue biopsies obtained from 12 MEM patients [4 common 4977 bp deleted mtDNA and 8 A3243G: 4 progressive external ophthalmoplegia (PEO) and 4 mitochondrial myopathy, encephalopathy, lactic cidosis, and stroke-like episodes syndrome (MELAS) phenotypes] compared with age-matched healthy individuals. We found several differentially expressed genes: 35 were markedly up-regulated in the mtDNA macro-deletion group (vs. the control group) and 4 decreased; 56 genes were dysregulated in A3243G-related disorders (53 down-regulated in PEO and 3 up-regulated in MELAS). Finally, 12 genes were similarly regulated in the majority of the MEM patients under study. Amongst these, we identified an increased expression of genes related to the metabolism of the amino groups, as well as of several genes involved in genetic information processing. Moreover, few genes were similarly decreased in MEM patients vs. the control group. Real-time PCR demonstrated excellent reproducibility of the microarray-based findings. The observed expression changes are likely to represent a molecular signature for mitochondrial disorders. Furthermore, the differential expression profile of MELAS(A3243G) vs. PEO(A3243G) may support a role of nuclear background in contributing to these different clinical phenotypes. MEM microarray data are available from GEO database (http://www.ncbi.nlm.nih.gov/geo/) with the accession number: GSE1462.


Asunto(s)
Perfilación de la Expresión Génica , Encefalomiopatías Mitocondriales/genética , Músculo Esquelético/metabolismo , Adolescente , Adulto , Biopsia , ADN Mitocondrial/análisis , ADN Mitocondrial/genética , Femenino , Eliminación de Gen , Dosificación de Gen , Regulación de la Expresión Génica , Humanos , Síndrome MELAS/genética , Masculino , Persona de Mediana Edad , Músculo Esquelético/química , Mutación , Análisis de Secuencia por Matrices de Oligonucleótidos , Fenotipo , ARN Mensajero/análisis , Reproducibilidad de los Resultados , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
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