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1.
Arch Phys Med Rehabil ; 93(5): 808-15, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22541308

RESUMO

OBJECTIVE: To compare the outcomes of conventional therapies (physical, occupational, and hydrotherapies) plus acupuncture with those without acupuncture when administered intensely in the management of children with spastic cerebral palsy (CP). DESIGN: Evaluation-blind, prospective randomized controlled trial. SETTING: Therapies and video-recorded assessments at a children's hospital in Beijing, China, and blind scoring and data analyses at a university in the United States. PARTICIPANTS: Children (N=75), 12 to 72 months of age, with spastic CP. INTERVENTIONS: Intensely administered (5 times per week for 12wk) physical therapy, occupational therapy, and hydrotherapy either with acupuncture (group 1) or without acupuncture (group 2). To satisfy standard of care, group 2 subsequently received acupuncture (weeks 16-28). MAIN OUTCOME MEASURES: The Gross Motor Function Measure (GMFM)-66 and the Pediatric Evaluation of Disability Inventory (PEDI) assessments at 0, 4, 8, 12, 16, and 28 weeks. RESULTS: At the end of 12 weeks, there was no statistically significant difference between the 2 groups, but when group 2 received acupuncture (16-28wk) there was a shift toward improvement in the GMFM-66 and the PEDI-Functional Skills Self-Care and Mobility domain. When groups were combined, statistically significant improvements after intense therapies occurred from baseline to 12 weeks for each outcome measure at each Gross Motor Function Classification System (GMFCS) level. After adjusting for expected normative maturational gains based on age, the GMFM gains for children with GMFCS II level was statistically significant (P<.05) with a mean gain of 6.5 versus a predicted gain of 3.4. CONCLUSIONS: Intense early administered rehabilitation improves function in children with spastic CP. The contribution from acupuncture was unclear. Children's response varied widely, suggesting the importance of defining clinical profiles that identify which children might benefit most. Further research should explore how this approach might apply in the U.S.


Assuntos
Terapia por Acupuntura , Paralisia Cerebral/reabilitação , Destreza Motora/fisiologia , Modalidades de Fisioterapia , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Terapia por Exercício , Feminino , Humanos , Hidroterapia , Lactente , Masculino , Terapia Ocupacional , Método Simples-Cego
2.
Front Pediatr ; 10: 1001775, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36299686

RESUMO

We initially described two children who developed Guillain-Barré syndrome (GBS) complicated by rhabdomyolysis (RML), and reviewed five adult patients from the literature. Through analysis of the clinical features, laboratory examination, treatment and prognostic data from these seven patients, we found that when GBS "meets" RML, the most prominent characteristics were the following: male dominance; limb weakness, pain and respiratory failure could be caused by multiple factors; limb weakness and respiratory muscle paralysis were more serious than with GBS alone; and the probability of mechanical ventilation was increased. Neuroelectrophysiological studies revealed axonal lesions. Close monitoring and timely identification and intervention to remedy potentially fatal complications such as electrolyte disorder multisystem complications and kidney injury are crucial. With plasma exchange, peritoneal dialysis and supportive treatment, the long-term outcome of most patients was satisfactory.

3.
Front Genet ; 12: 605778, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34054912

RESUMO

Objective: Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by variable clinical, biochemical and imaging features. Subjects: Herein, we report a girl with variant NKH with two mutations in glutaredoxin 5 (GLRX5), which has been described in only three patients. Results: The clinical and biochemical phenotypes of the patient are also described. She suffered from developmental regression associated with spasticity, developmental delay, anemia and optic atrophy. The mitochondrial leukoencephalopathy was used to designate these disorders. An increased T2 signal from the medulla oblongata to the C6 spinal region was also observed on spinal cord MRI. Tandem mass analysis of a dried blood sample revealed elevated levels of glycine. The patient has two compound heterozygous mutations (c.151_153 del AAG and c.196C>T) in the GLRX5 gene. The c.196C>T mutation led to a stop codon (p.Q66Ter). Activities of mitochondrial respiratory chain (MRC) complexes II+III in the patient's fibroblasts were abnormal. Conclusions: We present the case of a girl with variant NKH who manifested spasticity and bilateral cavitating leukoencephalopathy. The patient had a deficiency of a respiratory chain enzyme, and this is the first report. Genetic testing is important for physicians to evaluate suspected variant NKH patients and to provide proper genetic counseling.

4.
Front Genet ; 11: 126, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32194620

RESUMO

Familial hemophagocytic lymphohistiocytosis Type 2 (FHL2) associated central nervous system (CNS) involvement is less understood in children, especially when considering neurologic manifestations as part of the initial presentation. We conducted a retrospective review of the clinical manifestations and genetic abnormality of four Han Chinese children with FHL2 who were patients at the neurology department of Beijing Children's Hospital from November 2015 to October 2018. These four patients initially manifested CNS symptoms in their disease presentation, and all four patients were misdiagnosed as having ademyelinating disease, such as acute disseminated encephalomyelitis and multiple sclerosis. Given these misdiagnoses, it is important that general physicians and pediatricians maintain awareness of the possibility of FHL2 as a differential diagnosis. These four cases included neurologic manifestations including seizures, ataxia, spasticity, gait disorder, and coma. Bilateral abnormal signals in the cerebrum, including in white matter, gray matter, and junctions were discovered. Enhanced magnetic resonance imaging (MRI) in these patients showed spot or ring enhancement and/or hemorrhage. These patients all possessed a compound heterozygote mutation PRF1 gene. Whole exome sequencing analysis revealed seven different mutations (three novel mutations) spread over the PRF1 gene and a heterozygous missense mutation c.1349C > T [p.T450M] that was present in two patients. Three novel mutations, c.634T > C[p.Y212H], c.1083_1094del[p.361_364del], and c.1306G > T [p.D436Y], were discovered and through in silico analysis were discovered to be deleterious. Neurologic manifestations were the initial symptoms of FHL2 in these patients in addition to the expected leukopenia and hepatosplenomegaly. Whole exome sequencing of PRF1 for patients with similar presentations would facilitate prompt and accurate diagnosis and treatment.

8.
Zhonghua Er Ke Za Zhi ; 50(8): 598-600, 2012 Aug.
Artigo em Zh | MEDLINE | ID: mdl-23158737

RESUMO

OBJECTIVE: To investigate the basic clinical characteristics of paraneoplastic neurological syndrome (PNS) in children. METHOD: To retrospectively analyze the clinical data of 12 PNS children who were hospitalized in neurology department in Beijing Children's Hospital from 2010 to 2011. Some patients were followed up after surgery. RESULT: In 12 patients with PNS, 11 were male and 1 was female. The mean onset age were (30.5 ± 15.3) months. The mean duration from neurological symptom onset to finding out of tumor was (112.7 ± 154.4) days. The onset of the disease in 2 patients was acute, in 3 was subacute and in the other 7 was chronic (2 of 7 had 2 to 3 relapses). Of 12 patients, 11 had symptoms of ataxia (3 patients also had opsoclonus and myoclonus, OMS), 1 had weakness of limbs at onset and then had ataxia. Nine of 12 patients had surgery, and pathologic diagnosis was neuroblastoma and ganglioneuroma. Six patients were followed-up for 8 to 21 months. One patient had a little improvement and 5 almost recovered. CONCLUSION: The PNS children can have neurological symptoms only at the onset and there were no particular evidence of tumor. It is prone to misdiagnosis. The prognosis of PNS in children was poor.


Assuntos
Ganglioneuroma/diagnóstico , Neuroblastoma/diagnóstico , Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico , Hormônio Adrenocorticotrópico/uso terapêutico , Biomarcadores Tumorais/análise , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Pré-Escolar , Feminino , Ganglioneuroma/patologia , Ganglioneuroma/terapia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Lactente , Imageamento por Ressonância Magnética , Masculino , Neuroblastoma/patologia , Neuroblastoma/terapia , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Síndrome de Opsoclonia-Mioclonia/patologia , Síndrome de Opsoclonia-Mioclonia/terapia , Síndromes Paraneoplásicas do Sistema Nervoso/patologia , Síndromes Paraneoplásicas do Sistema Nervoso/terapia , Prognóstico , Radiografia , Estudos Retrospectivos
9.
Zhonghua Er Ke Za Zhi ; 50(12): 885-9, 2012 Dec.
Artigo em Zh | MEDLINE | ID: mdl-23324141

RESUMO

OBJECTIVE: To study the clinical and laboratory features and diagnosis of the patient with anti-N-methyl-D-aspartate receptor(NMDAR)encephalitis in children. METHOD: The data of clinical feature, laboratory findings, and radiological manifestation were reviewed and analyzed. RESULT: Of the 7 patients, 4 were female and 3 were male. The age of onset was from 6.6 to 15.5 years (average 9.5 years). The onset of 4 cases started with convulsion. Six cases had seizures which was difficult to control by antiepileptic drugs. All patients had psychiatric symptoms and speech disorder. Six cases had different levels of decreased consciousness and dyskinesias. 6 cases had autonomic nerve instability, and 7 cases developed sleep disorders. The results of MRI examination were normal in all patients. The EEG of most patients showed focal or diffuse slow waves. Six cases had oligoclonal bands. All cases were confirmed to have the disease by detection of anti-NMDA receptor antibodies. No tumor was detected in any of the patients. All patients received immunotherapy. CONCLUSION: Anti-NMDAR encephalitis is a severe but treatable disorder that frequently affects children and adolescents. Pediatric patients had clinical manifestations similar to those of adult patients. But children have a lower incidence of tumors and hypoventilation also occurs less frequently in children. Most of children had a good prognosis.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Autoanticorpos/sangue , Imunoterapia/métodos , Receptores de N-Metil-D-Aspartato/imunologia , Adolescente , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/terapia , Autoanticorpos/líquido cefalorraquidiano , Sistema Nervoso Autônomo/fisiopatologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos dos Movimentos/etiologia , Radiografia , Estudos Retrospectivos , Convulsões/etiologia
10.
J Child Neurol ; 25(7): 849-55, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20595697

RESUMO

The purpose was to examine the brain activation patterns with acupuncture using real acupoint (Liv3) versus sham acupoint in healthy, sedated children using functional magnetic resonance imaging (fMRI). Functional magnetic resonance imaging scans of the brain for 10 healthy, sedated children were taken during stimulation of real acupoint (Liv3 [Taichong]) and a nearby sham acupoint in a randomized order, employing twisting and nontwisting methods using a blocked paradigm using a 2.0-T scanner. The functional data were analyzed by using SPM 99. Various regions of the brain were activated in 2 acupoints. However, the pattern was different for the 2 acupoints. We suggest specific cerebral activation patterns with acupuncture might explain some of its therapeutic effect.


Assuntos
Pontos de Acupuntura , Encéfalo/fisiologia , Terapia por Acupuntura/métodos , Mapeamento Encefálico , Pré-Escolar , Sedação Consciente , Feminino , , Nível de Saúde , Humanos , Imageamento por Ressonância Magnética , Masculino
11.
J Altern Complement Med ; 14(8): 1005-9, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18990048

RESUMO

OBJECTIVE: The objective of this study was to observe for any change in baseline seizure frequency with acupuncture in children with cerebral palsy. METHODS: A randomized controlled study was conducted: Group I consisted of integrated acupuncture, tuina, and rehabilitation (physiotherapy, occupational therapy, and hydrotherapy) for 12 weeks; and Group II consisted of rehabilitation (physiotherapy, occupational therapy, and hydrotherapy) for 12 weeks. After a washout period of 4 weeks, Group II then received acupuncture and tuina for 12 weeks. Each subject received 5 daily acupuncture sessions per week for 12 weeks (total = 60 sessions). All children were assessed for any change in seizure frequency during treatment. RESULTS: One hundred and sixteen (116) children were recruited and randomized into Group I (N = 58) and Group II (N = 58). Thirty-three (33) children withdrew (9 from Group I and 24 from Group II). Of the remaining 83 children, Group I consisted of 49 and Group II of 34 children. For baseline, 5 children (6%; 5/83) had seizures. During phase 1 (12 weeks) of integrative treatment and subsequent 4-week follow-up, 3 children in Group I had seizures. Among those 3 children with seizures, 1 child with prior history of recurrent febrile seizure had 3 more recurrent febrile seizures during acupuncture treatment and 2 children without any prior history of seizures had new-onset seizures (1 with 3 recurrent febrile seizures and 1 with afebrile seizure). For Group I, 2 children with epilepsy had no increase in seizure frequency during acupuncture treatment. For Group II during the phase 2 acupuncture period, none had increase in seizure frequency. In both groups, 4 of 5 children (80%; 2 in Group I and 2 in Group II) with seizures had no increase in seizure frequency during acupuncture treatment and follow-up. CONCLUSIONS: The risk of increasing seizure is not increased with acupuncture treatment for cerebral palsy.


Assuntos
Acupressão/métodos , Terapia por Acupuntura/métodos , Paralisia Cerebral/terapia , Couro Cabeludo , Convulsões Febris/terapia , Pontos de Acupuntura , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Feminino , Humanos , Lactente , Masculino , Convulsões Febris/etiologia , Resultado do Tratamento
12.
J Child Neurol ; 23(11): 1267-74, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18984835

RESUMO

We study the effect of acupuncture on brain activation patterns in children with cerebral palsy using functional magnetic resonance imaging (fMRI). fMRI of the whole brain was performed in 11 children with cerebral palsy and 10 healthy children during stimulation of a common acupoint in Traditional Medicine [Liv3 (Taichong)] on the left foot. We use both twisting and nontwisting methods with a blocked paradigm on a 2.0 Tesla MRI scanner. Functional data were analyzed by using Statistical Parametric Mapping software (SPM 99). Both signal increase and decrease in various regions of the brain were found in both groups of children. However, the pattern was different for the 2 groups, especially with decreases in signal regions. We suggest that the observed differences between children with cerebral palsy and healthy children with the stimulation of acupoint Liv3 might be due to blockage of the liver meridian in children with cerebral palsy.


Assuntos
Acupuntura/métodos , Encéfalo/irrigação sanguínea , Paralisia Cerebral/patologia , Paralisia Cerebral/terapia , Imageamento por Ressonância Magnética , Encéfalo/patologia , Encéfalo/fisiopatologia , Mapeamento Encefálico , Pré-Escolar , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Masculino , Oxigênio/sangue
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