RESUMEN
PURPOSE: To describe the development of important information about me (IIAM), an application (app) used to communicate and organize healthcare information for people with neurodevelopmental disabilities (NDD). METHODS: Prior to the development of IIAM version 1.0, households with NDD were selected to participate in a focus group. Respondents (n = 7) were parents of children with NDD. Participants were asked to use a beta version for at least 2 months in day-to-day applications and to complete a questionnaire at the end of the trial. RESULTS: Over half (57%) of the participants found the beta version to be useful. The greatest limitation in usability was the child's age and literacy level. All participants found the app to be visually appealing and easy to navigate. IIAM was commonly used to communicate information to caregivers, and to facilitate quality interactions between the child and others. CONCLUSION: Mobile technology has become ubiquitous and has emerged as an important tool in healthcare. New applications could potentially promote accessible, cost-effective and self-managed interventions for the disability community. IIAM is a user-friendly, well-accepted and useful app for people with NDD. The focus group feedback elicited from the beta testing was used to develop the IIAM app version 1.0. However, the sample size in this initial feasibility study is small, and warrants a prospective study that evaluates the overall benefits of this app in improving quality of life and helping individuals with developmental disabilities manage their day-to-day activities. Implications for Rehabilitation Mobile technology has been more ubiquitous in health care and has emerged as a tool in communicating healthcare needs. New applications could potentially promote accessible, cost-effective and self-managed interventions for the disability community. IIAM (important information about me) is a new iOS application that enables adults and children with neurodevelopmental disabilities to organize their medical records, advocate for their healthcare needs, and help overcome communication and time limitations with health professionals and caregivers.
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Actitud hacia los Computadores , Niños con Discapacidad , Registros Electrónicos de Salud , Aplicaciones Móviles , Padres/psicología , Adolescente , Adulto , Parálisis Cerebral , Niño , Preescolar , Femenino , Grupos Focales , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Neurodesarrollo , Proyectos Piloto , Teléfono Inteligente , Interfaz Usuario-Computador , Adulto JovenRESUMEN
PURPOSE: To report our surgical technique and initial experience with robot-assisted laparoscopic radical cystectomy (RARC) with total intracorporeal urinary diversion compared with an extracorporeal method. SUBJECTS AND METHODS: In total, 42 patients underwent RARC by a single surgeon at our institute for clinically localized bladder cancer. Among these, 4 patients underwent RARC with complete intracorporeal urinary diversion. An ileal conduit was achieved in 3 patients, and an orthotopic neobladder was created in 1 patient. Our surgical technique is presented in detail, and the intracorporeal cases were compared with 38 previous extracorporeal diversion cases for perioperative outcome, postoperative oncologic outcome, and complications. RESULTS: Three men and 1 woman underwent complete intracorporeal urinary diversion. In patients receiving ileal conduits the mean total operative time was 510 minutes, and the estimated blood loss was 400 mL. In the patient receiving an ileal neobladder the total operative time was 585 minutes, and the estimated blood loss was 500 mL. Mean time to flatus was 60 hours, and no intraoperative or postoperative major complications occurred. Surgical margins were negative with no positive lymph nodes. Compared with extracorporeal cases, the mean total operative time for RARC was significantly longer, but perioperative outcomes of estimated blood loss, time to flatus, and postoperative oncologic outcomes were not significantly different. CONCLUSIONS: Our initial experience showed that RARC with complete intracorporeal urinary diversion is feasible based on perioperative data and oncologic features. However, in this small case series, we observed no definite benefits associated with intracorporeal urinary diversion over extracorporeal urinary diversion except for better cosmesis. Long-term, large-scale, prospective comparative studies will be needed to demonstrate the benefit of intracorporeal urinary diversion.
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Carcinoma de Células Transicionales/cirugía , Cistectomía/métodos , Robótica , Neoplasias de la Vejiga Urinaria/cirugía , Derivación Urinaria/métodos , Anciano , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND AND PURPOSE: Conventional MR imaging shows evidence of brain injury and/or maldevelopment in 70%-90% of children with cerebral palsy (CP), though its capability to identify specific white matter tract injury is limited. The great variability of white matter lesions in CP already demonstrated by postmortem studies is thought to be one of the reasons why response to treatment is so variable. Our hypothesis is that diffusion tensor imaging (DTI) is a suitable technique to provide in vivo characterization of specific white matter tract lesions in children with CP associated with periventricular leukomalacia (PVL). MATERIALS AND METHODS: In this study, 24 children with CP associated with PVL and 35 healthy controls were evaluated with DTI. Criteria for identification of 26 white matter tracts on the basis of 2D DTI color-coded maps were established, and a qualitative scoring system, based on visual inspection of the tracts in comparison with age-matched controls, was used to grade the severity of abnormalities. An ordinal grading system (0=normal, 1=abnormal, 2=severely abnormal or absent) was used to score each white matter tract. RESULTS: There was marked variability in white matter injury pattern in patients with PVL, with the most frequent injury to the retrolenticular part of the internal capsule, posterior thalamic radiation, superior corona radiata, and commissural fibers. CONCLUSION: DTI is a suitable technique for in vivo assessment of specific white matter lesions in patients with PVL and, thus, a potentially valuable diagnostic tool. The tract-specific evaluation revealed a family of tracts that are highly susceptible in PVL, important information that can potentially be used to tailor treatment options in the future.
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Encéfalo/patología , Parálisis Cerebral/patología , Imagen de Difusión por Resonancia Magnética/métodos , Leucomalacia Periventricular/patología , Fibras Nerviosas Mielínicas/patología , Adolescente , Parálisis Cerebral/complicaciones , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Recién Nacido , Leucomalacia Periventricular/complicaciones , Masculino , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
PURPOSE: To guarantee the proper tension of the tape, we have adopted standardized methods by using Babcock clamp. MATERIALS AND METHODS: Medical records of 118 women who underwent Tension-Free Vaginal Tape Obturator (TVTO) prucedure were retrospectively reviewed. Tension of the tape was controlled either by holding the 1 cm length of the mesh with Babcock clamp in 72 cases (Group I), or by placing Metzenbaum scissor between the tape and the urethra in 46 cases (Group II) before pulling on the tape. The preoperative evaluations included symptom questionnaire, history taking, physical examination, one hour pad test and complete multichannel urodynamic study. Postoperatively, uroflowmetry, postvoiding residual urine volume and symptom questionnaire were repeated. RESULTS: The success rates of the operation were not different between groups. However, postoperative complication rates, including persistent pain and de novo urgency, in the Group II (n=9, 19.6%) was higher than in Group I (n=6, 8.3%). The rate of postoperative transient urinary retention was also higher in Group II (p<0.05). The rate of the patients who answered [satisfied] were significantly high in Group I (95.8%) compared to Group II (80.4%). CONCLUSIONS: By using the Babcock clamp technique, the complications can be minimized, and satisfaction increased. Our findings suggest that this technique does assure the proper tension for the normal voiding postoperatively.
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Femenino , Humanos , Registros Médicos , Examen Físico , Complicaciones Posoperatorias , Encuestas y Cuestionarios , Estudios Retrospectivos , Cabestrillo Suburetral , Instrumentos Quirúrgicos , Uretra , Retención Urinaria , UrodinámicaRESUMEN
PURPOSE: We aim to correlate size and shape of corpus callosum with severity of motor and cognitive impairments in children with periventricular leukomalacia (PVL). METHODS: Children with PVL were stratified based on the severity of their motor and cognitive impairments. An age-matched control group was established. The corpus callosum was identified on mid-sagittal T (1)-weighted spin-echo (TR/TE: 550/15) MR images. The shape characteristics of the corpus callosum were measured with respect to a template via a shape transformation. The degree of callosal-shape transformation was quantified by a deformation function, which in turn was compared, using point-wise T-tests, for controls versus patients, diplegic versus quadriplegic patients, and patients with mild versus severe cognitive impairment. RESULTS: 29 children with spastic cerebral palsy and PVL and 32 age-matched controls were identified. In the PVL group, the entire corpus callosum was significantly smaller than in the control group (p value = 0.001). Significant differences existed in the shape of the corpus callosum between patients with diplegic versus quadriplegic and between patients with severe versus mild cognitive impairment. CONCLUSION: Global and regional corpus callosal morphology can be quantified using deformation functions.
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Agenesia del Cuerpo Calloso , Parálisis Cerebral/complicaciones , Trastornos del Conocimiento/etiología , Cuerpo Calloso/fisiopatología , Leucomalacia Periventricular/complicaciones , Trastornos de la Destreza Motora/etiología , Adolescente , Parálisis Cerebral/diagnóstico , Niño , Preescolar , Trastornos del Conocimiento/diagnóstico , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Trastornos de la Destreza Motora/diagnóstico , Pruebas Neuropsicológicas , Índice de Severidad de la EnfermedadRESUMEN
The authors used diffusion-tensor imaging to examine central white matter pathways in two children with spastic quadriplegic cerebral palsy. Corticospinal tracts projecting from cortex to brainstem resembled controls. In contrast, posterior regions of the corpus callosum, internal capsule, and corona radiata were markedly reduced, primarily in white matter fibers connected to sensory cortex. These findings suggest that the motor impairment in periventricular leukomalacia may, in part, reflect disruption of sensory connections outside classic pyramidal motor pathways.
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Leucomalacia Periventricular/patología , Imagen por Resonancia Magnética/métodos , Fibras Nerviosas/patología , Tractos Piramidales/patología , Corteza Somatosensorial/patología , Mapeo Encefálico/métodos , Niño , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Recién Nacido , Masculino , Neuronas Aferentes/patología , Cuadriplejía/patologíaRESUMEN
Trihexyphenidyl (Artane) is a centrally active muscarinic antagonist commonly used to treat patients with generalized dystonia. In a retrospective survey of 22 consecutive children with extrapyramidal cerebral palsy, we evaluated trihexyphenidyl on upper extremity and lower extremity function, expressive language, and drooling. Functional changes were assessed using a parental questionnaire (rating scale 1-5: from 1 = little or no change to 5 = tremendous change, with scores in either a positive or negative direction). Improvements of +4 or +5 were reported in eight children for upper extremity function, in eight children for verbal expressive language, in five for drooling, and in none for lower extremity function. Using bivariate linear regression modeling to investigate variables associated with treatment effects, there was a significant inverse relationship between age at initiation of medication and therapeutic response. Furthermore, beneficial responses were specific to upper-extremity function and expressive language. These results suggest that younger children are more likely to respond to trihexyphenidyl and that primary functional benefits include improved fine motor abilities and expressive language. A prospective masked study with a standardized clinical instrument is needed to confirm these findings.
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Parálisis Cerebral/tratamiento farmacológico , Distonía/tratamiento farmacológico , Antagonistas Muscarínicos/uso terapéutico , Habla/efectos de los fármacos , Trihexifenidilo/uso terapéutico , Factores de Edad , Brazo , Parálisis Cerebral/complicaciones , Parálisis Cerebral/fisiopatología , Niño , Preescolar , Distonía/etiología , Femenino , Humanos , Lactante , Modelos Lineales , Masculino , Estudios Retrospectivos , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
In a woman with a partial hydatidiform molar pregnancy with 69,XXY karyotype, the presence of male fetal cells of trophoblastic origin was demonstrated in maternal blood by X/Y-chromosome specific PCR and by immunostaining combined with FISH on two cell populations isolated from maternal blood. Blood was obtained three weeks prior to the detection of fetal demise, at 13 weeks' gestation. Results were confirmed on formalin-fixed paraffin-embedded molar tissue, removed at 16 weeks' gestational age for therapeutic reasons. The results indicate that both plasma and cells from maternal peripheral blood might be useful for non-invasive prenatal diagnosis of fetal aneuploidies, as described in the current case with a partial molar pregnancy.
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Mola Hidatiforme/genética , Trisomía , Trofoblastos/ultraestructura , Neoplasias Uterinas/genética , Dilatación y Legrado Uterino , Femenino , Edad Gestacional , Humanos , Mola Hidatiforme/cirugía , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Reacción en Cadena de la Polimerasa , Embarazo , Adhesión del Tejido , Neoplasias Uterinas/cirugía , Cromosoma X , Cromosoma YRESUMEN
Magnetic resonance imaging and neuropathologic studies have demonstrated remarkably selective patterns of injury to subregions of the basal ganglia in children. Examples are kernicterus and certain mitochondrial encephalopathies, which cause selective injury to the globus pallidus, and near-total perinatal asphyxia, which causes lesions in the putamen and thalamus. To explain the differential vulnerability of nuclei within millimeters of each other, we hypothesize that their locations within the neurotransmitter-specific circuitry of the basal ganglia motor loop are important. In severe hypoxic-ischemic encephalopathy, excitatory glutamatergic pathways into the putamen and thalamus are overactive, but the globus pallidus might be protected because its activity is silenced by inhibitory neuronal activity. In contrast, the relatively high resting neuronal activity in the globus pallidus might make it more vulnerable to less intense, subacute oxidative stresses from mitochondrial toxins such as bilirubin or from genetic mitochondrial disorders. This hypothesis has implications for designing neuroprotective therapies and for treating associated chronic movement disorders.
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Asfixia Neonatal/complicaciones , Enfermedades de los Ganglios Basales/etiología , Encéfalo/patología , Kernicterus/complicaciones , Encefalomiopatías Mitocondriales/complicaciones , Atetosis/diagnóstico , Atetosis/etiología , Enfermedades de los Ganglios Basales/diagnóstico , Distonía/diagnóstico , Distonía/etiología , Femenino , Globo Pálido/patología , Humanos , Hipoxia-Isquemia Encefálica/complicaciones , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Putamen/patología , Tálamo/patologíaRESUMEN
Neuroimaging techniques have established new connections between etiological factors and disorders of early brain development. Neuroimaging has also strengthened the link between patterns of selective vulnerability in the developing brain and clinical syndromes, especially cerebral palsy. Both computed tomography (CT) and magnetic resonance imaging (MRI) identify early developmental malformations, including neural tube defects, callosal dysgenesis, neuronal migration disorders, posterior fossa malformations, and hydrocephalus. Periventricular white matter damage, most commonly seen in premature infants, is best visualized by cranial ultrasonography in the neonatal period and on MRI later in childhood. In term infants and children with genetic metabolic diseases, various applications of nuclear magnetic resonance, including MRI, have important diagnostic roles. The utility of diffusion-weighted imaging, MR spectroscopy, and functional MRI to further understanding of brain injury, biochemistry, and function is under active investigation. In summary, selecting the appropriate neuroimaging technique can improve diagnosis and management of childhood neurodevelopmental disorders.
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Daño Encefálico Crónico/diagnóstico , Encéfalo/anomalías , Diagnóstico por Imagen , Enfermedades del Prematuro/diagnóstico , Encéfalo/patología , Daño Encefálico Crónico/etiología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Valor Predictivo de las PruebasRESUMEN
PURPOSE: To evaluate the utility of lateral ventricular volume measurements in predicting motor and cognitive impairment severity in children with periventricular leukomalacia (PVL), with or without seizures. MATERIALS AND METHODS: The charts of children with spastic cerebral palsy and PVL documented on brain magnetic resonance (MR) images were reviewed. Affected children were grouped by motor and cognitive impairment severity and seizure disorder. An age-matched control group was established. Lateral ventricular volumes were measured on two-dimensional T2-weighted spin-echo MR images. Analysis of variance was used to identify significant differences in mean lateral ventricular volume between groups. Paired analyses of differences were performed with the Bonferroni t method. RESULTS: Thirty-six children (24 boys, 12 girls) with spastic cerebral palsy and PVL and 21 age-matched control subjects (14 boys, seven girls) were identified. Mean lateral ventricular volumes of the moderate and marked motor deficit groups were significantly larger than those of the control and mild motor deficit groups (F = 29.24; alpha = .01). Mean lateral ventricular volumes of all cognitive impairment groups were significantly larger than those of the control and no-cognitive-impairment groups (F = 21.101 alpha = .01). There was no difference in mean lateral ventricular volume between children with PVL with or without seizures. CONCLUSION: Lateral ventricular volume measurements can be used as quantitative markers of clinical impairment severity and as clinical outcome predictors before formal testing is possible.
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Daño Encefálico Crónico/diagnóstico , Parálisis Cerebral/diagnóstico , Trastornos del Conocimiento/diagnóstico , Leucomalacia Periventricular/diagnóstico , Imagen por Resonancia Magnética , Ventrículos Cerebrales/patología , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Inteligencia/fisiología , Masculino , Examen Neurológico , Pronóstico , Convulsiones/diagnóstico , Sensibilidad y EspecificidadRESUMEN
A 5-year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor-V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions such as aortic thrombi, renal-vein thrombosis, venous-sinus thrombosis, and cerebral infarction is unknown. This case report brings into question a potential association between fVL, perinatal vascular lesions, perinatal stroke, and CP.
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Enfermedades de la Aorta/genética , Parálisis Cerebral/genética , Trombosis Coronaria/genética , Factor V/genética , Homocigoto , Mutación Puntual/genética , Enfermedades de la Aorta/diagnóstico por imagen , Parálisis Cerebral/diagnóstico , Preescolar , Trombosis Coronaria/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Leucomalacia Periventricular/patología , Imagen por Resonancia Magnética , Reacción en Cadena de la Polimerasa/métodos , UltrasonografíaRESUMEN
Trihexyphenidyl has been found to be an effective treatment for dystonic movement disorders, improving gross motor function in patients with axial and torsional dystonia, tremors, and myoclonus. In this report, improvements in fine motor control, language, and oral motor skills are described with trihexyphenidyl in an 8-year-old female who developed dystonia after spontaneous bilateral putamenal hemorrhages. No adverse side effects occurred. The mechanism of action of trihexyphenidyl is believed to be in the basal ganglia where it inhibits muscarinic cholinergic receptors and increases the turnover of dopamine.
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Antidiscinéticos/uso terapéutico , Hemorragia Cerebral/complicaciones , Distonía/diagnóstico , Distonía/tratamiento farmacológico , Trihexifenidilo/uso terapéutico , Antidiscinéticos/administración & dosificación , Niño , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Distonía/etiología , Femenino , Humanos , Lenguaje , Imagen por Resonancia Magnética , Destreza Motora , Putamen/patología , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Trihexifenidilo/administración & dosificaciónAsunto(s)
Parálisis Cerebral/diagnóstico , Trastornos de la Destreza Motora/diagnóstico , Parálisis Cerebral/clasificación , Parálisis Cerebral/epidemiología , Diagnóstico Diferencial , Estudios Epidemiológicos , Humanos , Trastornos de la Destreza Motora/clasificación , Trastornos de la Destreza Motora/epidemiología , Terminología como AsuntoRESUMEN
Experienced clinicians recognize that some children who appear to have static cerebral palsy (CP) actually have underlying genetic-metabolic disorders. We report a series of patients with motor disorders seen in children with extrapyramidal CP in whom brain magnetic resonance imaging abnormalities provided important diagnostic clues in distinguishing genetic-metabolic disorders from other causes. One cause of static extrapyramidal CP, hypoxic-ischemic encephalopathy at the end of a term gestation, produces a characteristic pattern of hyperintense signal and atrophy in the putamen and thalamus. Other signal abnormalities and atrophy in the putamen, globus pallidus, or caudate can point to genetic-metabolic diseases, including disorders of mitochondrial and organic acid metabolism. Progress in understanding and treating genetic diseases of the developing brain makes it essential to diagnose disorders that masquerade as static CP. Brain magnetic resonance imaging is a useful diagnostic tool in the initial evaluation of children who appear to have CP.
Asunto(s)
Enfermedades de los Ganglios Basales/diagnóstico , Encefalopatías/diagnóstico , Encéfalo/patología , Parálisis Cerebral/diagnóstico , Imagen por Resonancia Magnética , Acidosis Láctica/diagnóstico , Atrofia , Encefalopatías/genética , Encefalopatías/metabolismo , Isquemia Encefálica/diagnóstico , Núcleo Caudado/patología , Cerebelo/patología , Preescolar , Diagnóstico Diferencial , Femenino , Globo Pálido/patología , Humanos , Enfermedad de Huntington/diagnóstico , Hipoxia Encefálica/diagnóstico , Lactante , Masculino , Errores Innatos del Metabolismo/diagnóstico , Encefalomiopatías Mitocondriales/diagnóstico , Trastornos del Movimiento/diagnóstico , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico , Putamen/patología , Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa/diagnóstico , Tálamo/patologíaRESUMEN
BACKGROUND: The interpretation of antroduodenal manometry in children with gastrointestinal motility disorder has been limited by a paucity of data from normal children. The purpose of this study was to define antroduodenal manometry findings in children with no upper gastrointestinal symptoms. METHODS: We reviewed 260 consecutive antroduodenal manometries and selected 18 studies from subjects aged 2-12 years with no symptoms referable to a gastrointestinal motility disorder involving the stomach and/or the small bowel. RESULTS: During fasting, phase 3 of the migrating motor complex (MMC) was present in 14 of 18 children, and it was induced by erythromycin in 4 who failed to have a spontaneous phase 3. Phase 3 propagation velocity increased significantly with age. The cycle length between MMCs showed no age-dependent variation. Phase 3 occupied 3%; phase 1, 10%; and phase 2, 87% of the fasting recording time. CONCLUSIONS: Antroduodenal manometry findings in children with no upper gastrointestinal symptoms are similar to those in adults.
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Duodeno/fisiología , Motilidad Gastrointestinal/fisiología , Complejo Mioeléctrico Migratorio/fisiología , Antro Pilórico/fisiología , Adulto , Envejecimiento/fisiología , Niño , Humanos , Recién Nacido , Manometría , Presión , Valores de Referencia , Estudios RetrospectivosRESUMEN
Early brain development involves a genetically programmed, spatially organized, and temporally orchestrated cascade of events. Deleterious prenatal perinatal events may disrupt this sequence and lead to a spectrum of developmental impairments including cerebral palsy and mental retardation. Before the advent of cranial ultrasonography, cranial tomography, and magnetic resonance imaging, neuropathologic correlations were usually established post mortem. These neuroimaging modalities have improved the identification of brain lesions in surviving high-risk preterm and term infants. This has permitted inferences as to timing and pathophysiologic condition of the insult(s) and has facilitated correlations with clinical examination. In very low birth weight infants ultrasonographic abnormalities reflecting white matter damage have the strongest correlations with cerebral palsy: (1) persistent ventricular enlargement or persistent parenchymal echodensities carry a 50% risk for cerebral palsy, and (2) large bilateral cysts in periventricular white matter carry a risk approaching 75% to 95%. In term infants neuroimaging studies show selective vulnerability in cerebral cortex and basal ganglia. This article reviews relationships between neuroimaging findings and outcome to help clinicians interpret the results and to gain an understanding of risk in their patients.