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Melaragno, Maria Isabel
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[PMID]:29258104
[Au] Autor:Malinverni ACM; Yamashiro Coelho ÉM; Chen K; Colovati ME; Soares Pinho Cernach MC; Bragagnolo S; Melaragno MI
[Ad] Endereço:Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
[Ti] Título:Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.
[So] Source:Cytogenet Genome Res;153(2):81-85, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Manchas Café com Leite/genética
Deleção Cromossômica
Cromossomos Humanos Par 21/ultraestrutura
Face/anormalidades
Hipertonia Muscular/genética
[Mh] Termos MeSH secundário: Cromossomos Humanos Par 21/genética
Deficiências do Desenvolvimento/genética
Feminino
Perda Auditiva Bilateral/genética
Seres Humanos
Recém-Nascido
Cariotipagem
Fenótipo
Escoliose/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE
[do] DOI:10.1159/000485282


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[PMID]:28414728
[Au] Autor:Ben-Pazi H; Cohen A; Kroyzer N; Lotem-Ophir R; Shvili Y; Winter G; Deutsch L; Pollak Y
[Ad] Endereço:Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
[Ti] Título:Clown-care reduces pain in children with cerebral palsy undergoing recurrent botulinum toxin injections- A quasi-randomized controlled crossover study.
[So] Source:PLoS One;12(4):e0175028, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: We investigated the impact of clown-care on pain in 45 children with cerebral palsy who underwent recurrent Botulinum-toxin injections (age 7.04± 4.68 years). Participants were randomized to receive either clown (n = 20) or standard (n = 25) -care. METHODS: Pain Visual-Analogue-Scale (range 1-5) was reported before and after procedures. Pain assessment was lower for children undergoing Botulinum-toxin injections with clown-care (2.89± 1.36) compared to standard-care (3.85± 1.39; p = 0.036) even though pain anticipated prior to procedures was similar (~3). FINDINGS: Children who underwent the first procedure with clown-care reported lower pain even after they crossed-over to the following procedure which was standard (p = 0.048). Carryover effect was more prominent in injection-naïve children (p = 0.019) and during multiple procedures (p = 0.009). Prior pain experience correlated with pain in subsequent procedures only when first experience was standard-care (p = 0.001). CONCLUSIONS: Clown-care alleviated pain sensation during Botulinum-toxin injections and initial clown-care experience reduced pain during subsequent injections even though clowns were not present. TRIAL REGISTRATION: clinicaltrials.gov ID # NCT01377883.
[Mh] Termos MeSH primário: Toxinas Botulínicas/administração & dosagem
Paralisia Cerebral/terapia
Terapia do Riso/métodos
Manejo da Dor/métodos
Dor/prevenção & controle
[Mh] Termos MeSH secundário: Adolescente
Paralisia Cerebral/tratamento farmacológico
Paralisia Cerebral/fisiopatologia
Criança
Pré-Escolar
Estudos Cross-Over
Feminino
Seres Humanos
Lactente
Injeções Intramusculares
Israel
Masculino
Hipertonia Muscular/tratamento farmacológico
Hipertonia Muscular/fisiopatologia
Fármacos Neuromusculares/administração & dosagem
Dor/fisiopatologia
Medição da Dor
Resultado do Tratamento
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Neuromuscular Agents); EC 3.4.24.69 (Botulinum Toxins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170509
[Lr] Data última revisão:
170509
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170418
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0175028


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[PMID]:28347765
[Au] Autor:Drobyshevsky A; Quinlan KA
[Ad] Endereço:Department of Pediatric, NorthShore University HealthSystem Research Institute, Evanston, IL, United States. Electronic address: adrobyshevsky@northshore.org.
[Ti] Título:Spinal cord injury in hypertonic newborns after antenatal hypoxia-ischemia in a rabbit model of cerebral palsy.
[So] Source:Exp Neurol;293:13-26, 2017 Jul.
[Is] ISSN:1090-2430
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:While antenatal hypoxia-ischemia (H-I) is a well-established cause of brain injury, the effects of H-I on the spinal cord remain undefined. This study examined whether hypertonia in rabbits was accompanied by changes in spinal architecture. Rabbit dams underwent global fetal H-I at embryonic day 25 for 40min. High resolution diffusion tensor imaging was performed on fixed neonatal CNS. Fractional anisotropy (FA) and regional volumetric measurements were compared between kits with and without hypertonia after H-I and sham controls using Tract Based Spatial Statistics. Hypertonic kits showed evidence of damage from hypoxia not only in the brain, but in spinal cord as well. Hypertonic kits showed reduced FA and thickness in corticospinal tracts, external capsule, fimbria, and in white and gray matter of both cervical and lumbar spinal cord. Dorsal white matter of the spinal cord was the exception, where there was thickening and increased FA in hypertonic kits. Direct damage to the spinal cord was demonstrated in a subset of dams imaged during H-I with a 3T magnetic resonance scanner, where apparent diffusion coefficient in fetal spinal cords acutely decreased during hypoxia. Hypertonic kits showed subsequent decreases in lumbar motoneuron counts and extensive TUNEL- and Fluoro-Jade C-positive labeling was present in the spinal cord 48h after H-I, demonstrating spinal neurodegeneration. We speculate that global H-I causes significant loss of both spinal white and gray matter in hypertonic newborns due to direct H-I injury to the spinal cord as well as due to upstream brain injury and consequent loss of descending projections.
[Mh] Termos MeSH primário: Paralisia Cerebral/etiologia
Hipóxia Fetal/complicações
Hipertonia Muscular/complicações
Hipertonia Muscular/etiologia
Traumatismos da Medula Espinal/etiologia
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Sistema Nervoso Central/diagnóstico por imagem
Paralisia Cerebral/diagnóstico por imagem
Imagem de Tensor de Difusão
Modelos Animais de Doenças
Feminino
Fluoresceínas/metabolismo
Proteína Glial Fibrilar Ácida/metabolismo
Gliose/etiologia
Processamento de Imagem Assistida por Computador
Marcação In Situ das Extremidades Cortadas
Vias Neurais/diagnóstico por imagem
Vias Neurais/patologia
Gravidez
Coelhos
Traumatismos da Medula Espinal/diagnóstico por imagem
Fatores de Tempo
Substância Branca/diagnóstico por imagem
Substância Branca/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fluoresceins); 0 (Glial Fibrillary Acidic Protein); 0 (fluoro jade)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170329
[St] Status:MEDLINE


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[PMID]:28338165
[Au] Autor:Ye H; Liu W; Qian Q; Liu Z; Jiang C; Zheng K; Qin Q; Ding Z; Gong Z
[Ad] Endereço:Department of General Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
[Ti] Título:[Clinical efficacy of partial resection of puborectalis combined with mutilation of internal anal sphincter in the treatment of puborectalis syndrome with high anal pressure].
[So] Source:Zhonghua Wei Chang Wai Ke Za Zhi;20(3):304-308, 2017 Mar 25.
[Is] ISSN:1671-0274
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the efficacy of partial resection of puborectalis combined with mutilation of internal anal sphincter(IAS) in the treatment of puborectalis syndrome with high anal pressure. METHODS: Twenty-five cases of puborectalis syndrome with high anal resting pressure in the preoperative examination received the operation of partial resection of puborectalis combined with mutilation of IAS in Zhongnan Hospital of Wuhan University between January 2013 and May 2015. The position of puborectalis was confirmed by touching with the exposure under the transfixion device, and a transverse incision was made by electrotome between 3 and 5 o'clock direction of puborectalis, then partial puborectalis was lifted by vessel clamp at 5 o'clock direction, and about 0.5 cm of muscular tissue was resected. Between 8 to 10 o'clock direction of anal tube, about 1 cm length of transverse incision was made by electrotome, then partial IAS was lifted by vessel clamp and cut off. Preoperative and postoperative 3-month anorectal manometry and defecography were carried out. Wexner constipation score and Cleveland Clinic incontinence score were implemented before surgery and 3, 6, 12 months after operation. This study was registered in the Chinese Clinical Trial Registry (registration number: ChiCTR-ORB-16007695). RESULTS: Of the 25 cases, 18 were male and 7 were female, the average age was 55 years old and the average course of disease was 9 years. Compared with pre-operation, the postoperative 3-month anal resting pressure and maximal squeeze pressure were significantly decreased [(53.56±9.05) mmHg vs. (92.44±7.06) mmHg, (142.80±20.35) mmHg vs. (210.88±20.56) mmHg, respectively, both P=0.000]; anorectal angulation at resting state and forced defecation state increased significantly [(102.32±4.96)degree vs. (95.88±4.01)degree, (117.88±5.95)degree vs. (89.52±3.25)degree, respectively, both P=0.000]. Wexner constipation score of postoperative 3-month, 6-month, 12-month (8.28±3.91, 7.40±3.64 and 8.04±4.74) was significantly lower than the preoperative score (16.00±3.69, all P<0.05), while the score was not significantly different among 3 time points after operation (P>0.05). Cleveland Clinic incontinence score was 0 at postoperative 6 and 12 months, and revealed 20 cases were effective among all the surgical patients(80%). CONCLUSION: Partial resection of puborectalis combined with mutilation of internal anal sphincter can effectively reduce anal pressure and improve symptoms of outlet obstruction, which is an effective method in the treatment of puborectalis syndrome with high anal pressure.
[Mh] Termos MeSH primário: Canal Anal/cirurgia
Procedimentos Cirúrgicos do Sistema Digestório/métodos
Diafragma da Pelve/cirurgia
[Mh] Termos MeSH secundário: Canal Anal/fisiopatologia
Constipação Intestinal/cirurgia
Defecação
Defecografia
Feminino
Gastroenteropatias/cirurgia
Seres Humanos
Masculino
Manometria
Meia-Idade
Hipertonia Muscular/cirurgia
Diafragma da Pelve/fisiopatologia
Pressão
Resultado do Tratamento
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170325
[St] Status:MEDLINE


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[PMID]:28233705
[Au] Autor:Grabli D
[Ad] Endereço:Université de la Sorbonne, UPMC Paris 06 UMR S 1127, institut du cerveau et de la moelle, Inserm U 1127 et CIC-1422, CNRS UMR 7225, 75013 Paris, France; AP-HP, hôpital Pitié-Salpêtrière, département des maladies du système nerveux, 75013 Paris, France. Electronic address: david.grabli@psl.aphp.fr.
[Ti] Título:Maladie de Parkinson et syndromes parkinsoniens : les signes moteurs..
[So] Source:Presse Med;46(2 Pt 1):187-194, 2017 Mar.
[Is] ISSN:2213-0276
[Cp] País de publicação:France
[La] Idioma:fre
[Ab] Resumo:Parkinsonian syndrome is the clinical expression of a lesion within the nigro-striatal dopaminergic pathway. Akinesia is the main manifestation of parkinsonism. The clinical analysis of motor symptoms may guide clinical diagnosis. Parkinson's disease is characterized by a pure asymmetric parkinsonian syndrome, responsive to dopaminergic treatment. The evolution of Parkinson's disease is characterized by the occurrence of motor complications (dyskinesia and fluctuations). Gait disturbances (postural instability and freezing) are late in Parkinson's disease. When early (within the first three years), they point to atypical parkinsonian syndrome.
[Mh] Termos MeSH primário: Transtornos Parkinsonianos/fisiopatologia
[Mh] Termos MeSH secundário: Antiparkinsonianos/efeitos adversos
Antiparkinsonianos/uso terapêutico
Transtornos da Articulação/etiologia
Transtornos da Articulação/fisiopatologia
Corpo Estriado/fisiopatologia
Transtornos de Deglutição/etiologia
Transtornos de Deglutição/fisiopatologia
Progressão da Doença
Agonistas de Dopamina/efeitos adversos
Agonistas de Dopamina/uso terapêutico
Neurônios Dopaminérgicos/patologia
Neurônios Dopaminérgicos/fisiologia
Transtornos Neurológicos da Marcha/etiologia
Transtornos Neurológicos da Marcha/fisiopatologia
Seres Humanos
Hipocinesia/etiologia
Hipocinesia/fisiopatologia
Levodopa/efeitos adversos
Levodopa/uso terapêutico
Movimento/fisiologia
Hipertonia Muscular/etiologia
Hipertonia Muscular/fisiopatologia
Doença de Parkinson/complicações
Doença de Parkinson/tratamento farmacológico
Doença de Parkinson/fisiopatologia
Transtornos Parkinsonianos/complicações
Transtornos Parkinsonianos/tratamento farmacológico
Equilíbrio Postural
Transtornos das Sensações/etiologia
Transtornos das Sensações/fisiopatologia
Substância Negra/fisiopatologia
Tremor/etiologia
Tremor/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antiparkinson Agents); 0 (Dopamine Agonists); 46627O600J (Levodopa)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170406
[Lr] Data última revisão:
170406
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170225
[St] Status:MEDLINE


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[PMID]:27744026
[Au] Autor:Akpinar P; Atici A; Ozkan FU; Aktas I; Kulcu DG; Kurt KN
[Ad] Endereço:Department of Physical Medicine and Rehabilitation, Fatih Sultan Mehmet Education and Research Hospital, Istanbul, Turkey. Electronic address: pinar.pinarakpinar@gmail.com.
[Ti] Título:Reliability of the Spinal Cord Assessment Tool for Spastic Reflexes.
[So] Source:Arch Phys Med Rehabil;98(6):1113-1118, 2017 Jun.
[Is] ISSN:1532-821X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To assess the reliability of the Spinal Cord Assessment Tool for Spastic Reflexes (SCATS). DESIGN: Observational reliability study of the SCATS. SETTING: Inpatient rehabilitation unit at an education and research hospital. PARTICIPANTS: Subjects (N=47) between the ages of 18 and 88 years with spinal cord injury (SCI) and with American Spinal Injury Association Impairment Scale grades from A to D with spasticity, who were at least 6 months postinjury. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Interrater and test-retest reliability of the SCATS. RESULTS: The SCATS had substantial to almost perfect interrater agreement (κ=.669-1.000) between the 2 physiatrists. Test-retest agreement of the SCATS was also substantial to almost perfect (κ=.614-1.000) as well. There was a significant correlation between the SCATS clonus scores and the Modified Ashworth scores of the hip, knee, and ankle. No correlation was found between SCATS extensor spasm scores and Modified Ashworth scores. The SCATS flexor spasm scores were only correlated significantly with the ankle plantar flexor Modified Ashworth scores (P<.05). CONCLUSIONS: The SCATS is a reliable tool for assessing spasm activity and spastic hypertonia in patients with SCI.
[Mh] Termos MeSH primário: Hipertonia Muscular/reabilitação
Espasticidade Muscular/reabilitação
Modalidades de Fisioterapia/normas
Traumatismos da Medula Espinal/reabilitação
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Articulação do Tornozelo/fisiopatologia
Feminino
Articulação do Quadril/fisiopatologia
Seres Humanos
Articulação do Joelho/fisiopatologia
Masculino
Meia-Idade
Hipertonia Muscular/etiologia
Espasticidade Muscular/etiologia
Variações Dependentes do Observador
Centros de Reabilitação
Reprodutibilidade dos Testes
Traumatismos da Medula Espinal/complicações
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161017
[St] Status:MEDLINE


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[PMID]:28268656
[Au] Autor:Lotfian M; Mirbagheri MM; Kharazi MR; Dadashi F; Nourian R; Irani A; Mirbagheri A
[Ti] Título:Pendulum test measure correlates with gait parameters in children with cerebral palsy.
[So] Source:Conf Proc IEEE Eng Med Biol Soc;2016:1708-1711, 2016 08.
[Is] ISSN:1557-170X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Individuals with cerebral palsy (CP) usually suffer from different impairments including gait impairment and spasticity. Spastic hypertonia is a defining feature of spasticity and manifests as a mechanical abnormality. The objective of this study was to determine the relationship between spastic hypertonia and gait impairments in spastic children with CP, addressing an important controversial issue. Spastic hypertonia was quantified using the pendulum test. The gait impairments were evaluated using the motion capture system in a gait laboratory. Our results showed significant correlations among gait parameters; i.e. walking speed, step length, and the pendulum test measures. This indicates that neuromuscular abnormalities are associated with spasticity and may contribute to gait impairments. The clinical implication is that the impaired gait in children with CP may be improved with the treatment of neuromuscular abnormalities.
[Mh] Termos MeSH primário: Acelerometria/métodos
Paralisia Cerebral/fisiopatologia
Marcha
Hipertonia Muscular
[Mh] Termos MeSH secundário: Criança
Seres Humanos
Espasticidade Muscular
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171119
[Lr] Data última revisão:
171119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.1109/EMBC.2016.7591045


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[PMID]:27940761
[Au] Autor:Skuby SO; Rhee E; Thilo EH; Simões EA
[Ad] Endereço:Department of Pediatrics, Children's Hospital Colorado, Aurora, Colorado; stephanie.skuby@gmail.com.
[Ti] Título:Tetanus and Occam's Razor: Almost Forgotten but Not Gone: A Case Report.
[So] Source:Pediatrics;138(5), 2016 Nov.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Tetanus is a rare disease in industrialized countries, largely due to the highly protective effect of immunization. We present a case of tetanus in a formerly preterm infant with myelomeningocele repaired in utero, who presented at 44 days of age with poor feeding, lethargy, and increased tone. His symptoms progressed despite a course of antibiotics for presumed meningitis. At 73 days of age (on 29th day of hospitalization), a clinical diagnosis of tetanus was made based on the presence of risus sardonicus, trismus, and generalized hypertonicity. Consequently, tetanus immune globulin, muscle relaxants, and metronidazole were administered. Five months later, the infant has had complete resolution of the hypertonicity, has regained normal jaw movement and swallowing, and is regaining oral feeding skills. This case involved a delay in diagnosis despite clinical symptoms and signs classic, in retrospect, for tetanus, highlighting the importance of recognizing the constellation of symptoms that should lead us to consider this rare diagnosis.
[Mh] Termos MeSH primário: Tétano/diagnóstico
[Mh] Termos MeSH secundário: Diagnóstico Tardio
Fadiga/microbiologia
Seres Humanos
Lactente
Masculino
Hipertonia Muscular/microbiologia
Trismo/microbiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170622
[Lr] Data última revisão:
170622
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27575577
[Au] Autor:Matsumoto-Miyazaki J; Asano Y; Ikegame Y; Kawasaki T; Nomura Y; Shinoda J
[Ad] Endereço:1 Chubu Medical Center for Prolonged Traumatic Brain Dysfunction , Kizawa Memorial Hospital, Minokamo, Gifu, Japan .
[Ti] Título:Acupuncture Reduces Excitability of Spinal Motor Neurons in Patients with Spastic Muscle Overactivity and Chronic Disorder of Consciousness Following Traumatic Brain Injury.
[So] Source:J Altern Complement Med;22(11):895-902, 2016 Nov.
[Is] ISSN:1557-7708
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVE: Spastic hypertonia usually occurs in patients with chronic disorders of consciousness (DOC) following severe traumatic brain injury (TBI). Spinal motor neuron excitability has been reported to increase in patients with brain damage. The aim of this study was to evaluate the immediate effects of acupuncture on spinal motor neuron excitability in patients with DOC following TBI by using evoked electromyography. SETTING AND PARTICIPANTS: Eleven male patients (mean age, 33 ± 14 years) with refractory muscle spasticity of the upper extremity accompanying chronic DOC following TBI and admitted to Chubu Medical Center for Prolonged Traumatic Brain Dysfunction were included. DESIGN: A crossover study design was used. Changes in variables in the acupuncture session were compared with those in the control session in the same patients. INTERVENTION: Acupuncture treatment was performed at GV 26, Ex-HN 3, bilateral LI 4, and ST 36 for 10 minutes. OUTCOME MEASURES: F-wave was recorded from the abductor pollicis brevis muscle. The main outcome measure was F/M amplitude ratio (F-wave amplitude/M-wave amplitude), calculated as an index for spinal motor neuron excitability. F-waves were recorded before treatment (baseline), 10 minutes after needle insertion (phase 1), and 10 minutes after needle removal (phase 2). The same procedure was followed in the control session without acupuncture on a separate day. RESULTS: F/M ratio was significantly reduced from baseline to phase 1 (p < 0.001) and phase 2 (p < 0.001) in the acupuncture session, whereas no significant changes were observed in the control session. Changes in F/M ratio from baseline to phase 1 and phase 2 were greater in the acupuncture session than the control session (p = 0.001 and <0.001, respectively). CONCLUSION: The excitability of the spinal motor neurons in patients with DOC following TBI was reduced after acupuncture treatment, suggesting that it is beneficial for reducing spastic muscle hypertonia in these patients.
[Mh] Termos MeSH primário: Terapia por Acupuntura
Lesões Encefálicas Traumáticas/terapia
Transtornos da Consciência/terapia
Neurônios Motores/fisiologia
Espasticidade Muscular/terapia
Medula Espinal/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Lesões Encefálicas Traumáticas/fisiopatologia
Transtornos da Consciência/fisiopatologia
Estudos Cross-Over
Seres Humanos
Masculino
Meia-Idade
Hipertonia Muscular/fisiopatologia
Hipertonia Muscular/terapia
Espasticidade Muscular/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170322
[Lr] Data última revisão:
170322
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160831
[St] Status:MEDLINE


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[PMID]:27214504
[Au] Autor:Karakaya M; Heller R; Kunde V; Zimmer KP; Chao CM; Nürnberg P; Cirak S
[Ad] Endereço:Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
[Ti] Título:Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.
[So] Source:Neuropediatrics;47(4):273-7, 2016 Aug.
[Is] ISSN:1439-1899
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Distal arthrogryposis (DA) is a feature in genetically and clinically heterogeneous groups of disorders. Mostly myopathic and neurogenic defects have been described, but many patients remain without genetic diagnosis. We are elaborating on the clinical presentation of neonatal cases with DA who carry novel mutations in the nonselective sodium leak channel (NALCN). Two patients reported herein were remarkable for central hypertonicity in addition to DA. By trio-whole exome sequencing, two undescribed de novo mutations in NALCN were revealed. Both mutations (p.F317C and p.V595F) are located on pore-forming segments of NALCN. Dominant NALCN mutations in the pore-forming segments have been identified in similar patients, whereas recessive mutations outside the pore-forming segments result in different phenotypes. Our findings with central hypertonia broaden the phenotypic spectrum of de novo mutations in the pore-forming segments of NALCN. Recent findings of successful acetazolamide treatment in patients with channelopathies might point to potential therapies based on the ion channel similarities and the location of the mutation.
[Mh] Termos MeSH primário: Disostose Craniofacial/genética
Hipertonia Muscular/genética
Canais de Sódio/genética
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Disostose Craniofacial/complicações
Disostose Craniofacial/diagnóstico
Disostose Craniofacial/diagnóstico por imagem
Feminino
Seres Humanos
Recém-Nascido
Recém-Nascido Prematuro
Imagem por Ressonância Magnética
Hipertonia Muscular/complicações
Hipertonia Muscular/diagnóstico
Radiografia Torácica
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NALCN protein, human); 0 (Sodium Channels)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160524
[St] Status:MEDLINE
[do] DOI:10.1055/s-0036-1584084



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