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1.
J Foot Ankle Surg ; 59(1): 206-209, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31882141

RESUMO

Optimal screw fixation of the syndesmosis is difficult. We introduce a novel technique using a targeting drill guide for centroidal screw fixation of a syndesmosis to ensure a reproducible and optimal screw trajectory for syndesmosis fixation. By using a drill guide for anterior cruciate ligament surgery and intraoperative fluoroscopy, syndesmosis fixation enables reproducible fixation along an individual centroidal axis.


Assuntos
Traumatismos do Tornozelo/cirurgia , Articulação do Tornozelo/cirurgia , Fixação Interna de Fraturas/instrumentação , Parafusos Ósseos , Fluoroscopia , Fixação Interna de Fraturas/métodos , Humanos , Cuidados Intraoperatórios
2.
Foot Ankle Surg ; 26(6): 657-661, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31521520

RESUMO

BACKGROUND: This study aimed to compare the efficacy and safety of polydeoxyribonucleotide (PDRN) injection and corticosteroid injection for plantar fasciitis. METHODS: This study included 44 patients with plantar fasciitis, randomly allocated to the PDRN and corticosteroid groups. Evaluation using the visual analogue scale (VAS) pain score and Manchester-Oxford foot questionnaire (MOXFQ) was conducted at baseline, 1, 2, 6weeks and 6months. The thickness and echogenicity of the plantar fascia in ultrasonography and complications were recorded. RESULTS: Corticosteroid injection elicited more pain relief than did PDRN injection at 2 (p=0.010) and 6weeks (p=0.016); however, it showed no superiority at 6months (p=0.523). MOXFQ showed similar outcomes. The thickness and echogenicity did not differ between groups and no complications were reported in either group. CONCLUSIONS: We demonstrated that PDRN injection could be an effective and safe option for plantar fasciitis and was comparable to corticosteroid injection after 6months follow up. LEVEL OF EVIDENCE: II, comparative study.


Assuntos
Fasciíte Plantar/tratamento farmacológico , Glucocorticoides/uso terapêutico , Polidesoxirribonucleotídeos/uso terapêutico , Triancinolona/uso terapêutico , Método Duplo-Cego , Fasciíte Plantar/diagnóstico por imagem , Feminino , Humanos , Injeções , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Ultrassonografia , Escala Visual Analógica
3.
PLoS Genet ; 12(2): e1005829, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26828946

RESUMO

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in PMP2 from a family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical features. The age at onset was the first to second decades and muscle atrophy started in the distal portion of the leg. Predominant fatty replacement in the anterior and lateral compartment was similar to that in CMT1A caused by PMP22 duplication. Sural nerve biopsy showed onion bulbs and degenerating fibers with various myelin abnormalities. The relevance of PMP2 mutation as a genetic cause of dominant CMT1 was assessed using transgenic mouse models. Transgenic mice expressing wild type or mutant (p.I43N) PMP2 exhibited abnormal motor function. Electrophysiological data revealed that both mice had reduced motor nerve conduction velocities (MNCV). Electron microscopy revealed that demyelinating fibers and internodal lengths were shortened in both transgenic mice. These data imply that overexpression of wild type as well as mutant PMP2 also causes the CMT1 phenotype, which has been documented in the PMP22. This report might expand the genetic and clinical features of CMT and a further mechanism study will enhance our understanding of PMP2-associated peripheral neuropathy.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Doenças Desmielinizantes/genética , Genes Dominantes , Proteína P2 de Mielina/genética , Sequência de Aminoácidos , Animais , Doença de Charcot-Marie-Tooth/patologia , Doença de Charcot-Marie-Tooth/fisiopatologia , Segregação de Cromossomos , Simulação por Computador , Fenômenos Eletrofisiológicos , Família , Feminino , Células HEK293 , Humanos , Perna (Membro)/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Camundongos Transgênicos , Dados de Sequência Molecular , Mutação , Proteína P2 de Mielina/química , Linhagem , Fenótipo , Nervo Sural/patologia , Nervo Sural/fisiopatologia
4.
J Orthop Sci ; 24(3): 521-525, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30472085

RESUMO

BACKGROUD: To evaluate reliability of Bohler angle in doing operative reduction of fractured calcaneus, and compare its value over other image lines of hindfoot when surgeons determine whether the injured calcaneus is reduced close to pre-injured state. METHODS: Eighteen of postoperative lateral radiographs were obtained and edited with two versions; one of which anterior of calcaneus erased not to check Bohler angle, the other of which peri-calcaneus structure such as talus erased only to check Bohler angle. Four orthopaedic surgeons were asked to determine the two sets of images whether the injured calcaneus is reduced close to pre-injured state in independent two sessions. Intra-, interobserver reliability, diagnosis test including specificity, sensitivity, positive and negative predictive values were assessed. RESULTS: Intra- and interobserver reliability, Kappa value, ranged from 0.110 to 0.723 regardless the kind of the test. Sensitivity and specificity of both two tests were not significantly different in both trials, either. Positive and negative predictive values also showed similar pattern. The probability that observer determine the specific image as an acceptable reduction of calcaneus-less than 5 degrees of difference of the Bohler angle between post-reduction and pre-injured state-of two tests, was not significantly different in both trials (p = 0.40, 0.24, respectively). CONCLUSIONS: Bohler angle is known as one of the most objective markers for calcaneus fracture, but was not accurate as a sole reference in intra-operative reduction in this study. Therefore, surgeons should take into account the other radiographic features in surgery. LEVELS OF EVIDENCE: IV, case series.


Assuntos
Calcâneo/diagnóstico por imagem , Calcâneo/lesões , Fixação de Fratura , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , Pesos e Medidas Corporais , Placas Ósseas , Humanos , Variações Dependentes do Observador , Valor Preditivo dos Testes , Radiografia , Reprodutibilidade dos Testes , Resultado do Tratamento
5.
Ann Neurol ; 81(1): 147-151, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27863451

RESUMO

Here, we report the structural evidence of cerebral white matter abnormalities in Charcot-Marie-Tooth (CMT) patients and the relationship between these abnormalities and clinical disability. Brain diffusion tensor imaging (DTI) was performed in CMT patients with demyelinating (CMT1A/CMT1E), axonal (CMT2A/CMT2E), or intermediate (CMTX1/DI-CMT) peripheral neuropathy. Although all patients had normal brain magnetic resonance imaging, all genetic subgroups except CMT1A had abnormal DTI findings indicative of significant cerebral white matter abnormalities: decreased fractional anisotropy and axial diffusivity, and increased radial diffusivity. DTI abnormalities were correlated with clinical disability, suggesting that there is comorbidity of central nervous system damage with peripheral neuropathy in CMT patients. ANN NEUROL 2017;81:147-151.


Assuntos
Doença de Charcot-Marie-Tooth/patologia , Doenças do Sistema Nervoso Periférico/patologia , Substância Branca/patologia , Anisotropia , Estudos de Casos e Controles , Doença de Charcot-Marie-Tooth/genética , Imagem de Tensor de Difusão , Avaliação da Deficiência , Feminino , Humanos , Masculino , Mutação , Neuroimagem
6.
Epilepsia ; 59(1): 215-225, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29205291

RESUMO

OBJECTIVE: Patients with temporal lobe epilepsy (TLE) show brain connectivity changes in association with cognitive impairment. Seizure frequency and lateralization are 2 important clinical factors that characterize epileptic seizures. In this study, we sought to examine an interactive effect of the 2 seizure factors on intratemporal effective connectivity based on resting-state functional magnetic resonance imaging (rsfMRI) in patients with TLE. METHODS: For rsfMRI data acquired from 48 TLE patients and 45 healthy controls, we applied stochastic dynamical causal modeling to infer effective connectivity between 3 medial temporal lobe (MTL) regions, including the hippocampus (Hipp), parahippocampal gyrus (PHG), and amygdala (Amyg), ipsilateral to the seizure focus. We searched for the effect of the 2 seizure factors, seizure frequency (good vs poor seizure control) and lateralization (left vs right TLE), on connection strengths and their relationship with the level of verbal memory and language impairment. RESULTS: Impairment of verbal memory and language function was mainly affected by seizure lateralization, consistent with preferential involvement of the left MTL in verbal mnemonic processing. For the fully connected model, which was selected as the effective connectivity structure that best explained the observed rsfMRI time series, alterations in connection strengths were primarily influenced by seizure frequency; there was an increase in the strength of the Hipp to PHG connection in TLE patients with poor seizure control, whereas the strength of the Amyg to PHG connection increased in those with good seizure control. Furthermore, the association between connection strength alterations and cognitive impairment was interactively affected by both seizure frequency and lateralization. SIGNIFICANCE: These findings suggest an interactive effect as well as an individual effect of seizure frequency and lateralization on neuroimaging features and cognitive function. This potential interaction needs to be evaluated in the consideration of multiple seizure factors.


Assuntos
Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/fisiopatologia , Lateralidade Funcional/fisiologia , Rede Nervosa/fisiopatologia , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/fisiopatologia , Adulto , Anticonvulsivantes/uso terapêutico , Cognição/efeitos dos fármacos , Cognição/fisiologia , Eletroencefalografia , Epilepsia do Lobo Temporal/tratamento farmacológico , Epilepsia do Lobo Temporal/patologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/efeitos dos fármacos , Testes Neuropsicológicos , Oxigênio/sangue , Estudos Retrospectivos , Adulto Jovem
7.
J Dairy Sci ; 101(5): 3758-3770, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29477532

RESUMO

The purpose of this study was to investigate the gastroprotective effects of bovine milk on an acidified ethanol (HCl-ethanol) mixture that induced gastric ulcers in a mouse model. Mice received different doses of commercial fresh bovine milk (5, 10, and 20 mL/kg of body weight) by oral gavage once a day for 14 d. One hour after the last oral administration of bovine milk, the HCl-ethanol mixture was orally intubated to provoke severe gastric damage. Our results showed that pretreatment with bovine milk significantly suppressed the formation of gastric mucosa lesions. Pretreatment lowered gastric myeloperoxidase and increased gastric mucus contents and antioxidant enzymes catalase and superoxide dismutase. Administration of bovine milk increased nitrate/nitrite levels and decreased the malondialdehyde levels and the expression of proinflammatory genes, including transcription factor nuclear factor-κB, cyclooxygenase-2, and inducible nitric oxide synthase in the stomach of mice. These results suggest that bovine milk can prevent the development of gastric ulcer caused by acid and alcohol in mice.


Assuntos
Antiulcerosos/metabolismo , Etanol/efeitos adversos , Ácido Clorídrico/efeitos adversos , Leite/metabolismo , Úlcera Gástrica/prevenção & controle , Animais , Catalase/metabolismo , Bovinos , Etanol/metabolismo , Mucosa Gástrica/efeitos dos fármacos , Mucosa Gástrica/metabolismo , Humanos , Masculino , Malondialdeído/metabolismo , Camundongos , Óxido Nítrico Sintase Tipo II/metabolismo , Peroxidase/metabolismo , Substâncias Protetoras/metabolismo , Úlcera Gástrica/etiologia , Úlcera Gástrica/metabolismo , Superóxido Dismutase/metabolismo
8.
Ann Neurol ; 79(2): 231-43, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26506222

RESUMO

OBJECTIVE: Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. A study was done to identify the underlying cause of autosomal recessive adolescent onset distal myopathy. METHODS: Four patients from 2 unrelated Korean families were evaluated. To isolate the genetic cause, exome sequencing was performed. In vitro and in vivo assays using myoblast cells and zebrafish models were performed to examine the ADSSL1 mutation causing myopathy pathogenesis. RESULTS: Patients had an adolescent onset distal myopathy phenotype that included distal dominant weakness, facial muscle weakness, rimmed vacuoles, and mild elevation of serum creatine kinase. Exome sequencing identified completely cosegregating compound heterozygous mutations (p.D304N and p.I350fs) in ADSSL1, which encodes a muscle-specific adenylosuccinate synthase in both families. None of the controls had both mutations, and the mutation sites were located in well-conserved regions. Both the D304N and I350fs mutations in ADSSL1 led to decreased enzymatic activity. The knockdown of the Adssl1 gene significantly inhibited the proliferation of mouse myoblast cells, and the addition of human wild-type ADSSL1 reversed the reduced viability. In an adssl1 knockdown zebrafish model, muscle fibers were severely disrupted, which was evaluated by myosin expression and birefringence. In these conditions, supplementing wild-type ADSSL1 protein reversed the muscle defect. INTERPRETATION: We suggest that mutations in ADSSL1 are the novel genetic cause of the autosomal recessive adolescent onset distal myopathy. This study broadens the genetic and clinical spectrum of distal myopathy and will be useful for exact molecular diagnostics.


Assuntos
Adenilossuccinato Sintase/genética , Miopatias Distais/genética , Adulto , Idade de Início , Animais , Animais Geneticamente Modificados , Modelos Animais de Doenças , Miopatias Distais/enzimologia , Miopatias Distais/fisiopatologia , Feminino , Humanos , Masculino , Camundongos , Mutação , Linhagem , Fenótipo , República da Coreia , Adulto Jovem , Peixe-Zebra , Proteínas de Peixe-Zebra
9.
J Neuropsychiatry Clin Neurosci ; 29(4): 343-350, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28449635

RESUMO

Brain functional integration can be disrupted in patients with temporal lobe epilepsy (TLE), but the clinical relevance of this disruption is not completely understood. The authors hypothesized that disrupted functional integration over brain regions remote from, as well as adjacent to, the seizure focus could be related to clinical severity in terms of seizure control and memory impairment. Using resting-state functional MRI data acquired from 48 TLE patients and 45 healthy controls, the authors mapped functional brain networks and assessed changes in a network parameter of brain functional integration, efficiency, to examine the distribution of disrupted functional integration within and between brain regions. The authors assessed whether the extent of altered efficiency was influenced by seizure control status and whether the degree of altered efficiency was associated with the severity of memory impairment. Alterations in the efficiency were observed primarily near the subcortical region ipsilateral to the seizure focus in TLE patients. The extent of regional involvement was greater in patients with poor seizure control: it reached the frontal, temporal, occipital, and insular cortices in TLE patients with poor seizure control, whereas it was limited to the limbic and parietal cortices in TLE patients with good seizure control. Furthermore, TLE patients with poor seizure control experienced more severe memory impairment, and this was associated with lower efficiency in the brain regions with altered efficiency. These findings indicate that the distribution of disrupted brain functional integration is clinically relevant, as it is associated with seizure control status and comorbid memory impairment.


Assuntos
Encéfalo/fisiopatologia , Epilepsia do Lobo Temporal/fisiopatologia , Transtornos da Memória/fisiopatologia , Convulsões/fisiopatologia , Adulto , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Comorbidade , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/psicologia , Feminino , Lateralidade Funcional , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos da Memória/complicações , Transtornos da Memória/diagnóstico por imagem , Testes Neuropsicológicos , Descanso , Convulsões/complicações , Convulsões/diagnóstico por imagem
10.
Neurogenetics ; 15(3): 171-82, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24816431

RESUMO

Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. We investigated recessive mutations in a Korean family with two individuals affected by IOSCA. Causative mutations were investigated using whole exome sequencing. Electrophysiological analyses and muscle and nerve biopsies were performed, along with magnetic resonance imaging (MRI) of the brain and lower extremities. Compound heterozygous mutations c.1460C>T and c.1485-1G>A in C10orf2 were identified as causative of IOSCA. Skeletal muscle showed mitochondrial DNA (mtDNA) deletions. Both patients showed a period of normal development until 12-15 months, followed by ataxia, athetosis, hearing loss, and intellectual disability. Electrophysiological findings indicated motor and sensory polyneuropathies. Muscle biopsy revealed variations in the size and shape of myofibers with scattered, small, and angulated degenerating myofibers containing abnormal mitochondria; these observations are consistent with myopathy and may be the result of mtDNA deletions. Sural nerve biopsy revealed an axonal neuropathy. High-signal-intensity lesions in the middle cerebellar peduncles were correlated with clinical severity, and MRI of the lower legs was compatible with the hypothesis of length-dependent axonal degeneration. We identified novel compound heterozygous mutations of the C10orf2 gene as the cause of IOSCA with sensorimotor polyneuropathy and myopathy. Signs of motor neuropathy and myopathy were discovered for the first time in IOSCA patients with C10orf2 mutations. These results suggest that the clinical spectrum of IOSCA caused by C10orf2 mutations may be more variable than previously reported.


Assuntos
DNA Helicases/genética , DNA Mitocondrial/genética , Neuropatia Hereditária Motora e Sensorial/genética , Proteínas Mitocondriais/genética , Doenças Musculares/genética , Deleção de Sequência , Adulto , Sequência de Aminoácidos , Encéfalo/patologia , Feminino , Genes Recessivos , Neuropatia Hereditária Motora e Sensorial/complicações , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Humanos , Masculino , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Doenças Musculares/complicações , Mutação , Nervo Sural/patologia , Adulto Jovem
11.
BMC Med Genet ; 14: 125, 2013 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-24314034

RESUMO

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: severe neonatal presentation with cardiomyopathy, hepatic form with recurrent hypoketotic hypoglycemia, and later-onset axonal sensory neuropathy with episodic myoglobinuria. METHODS: To identify the causative and characterize clinical features of a Korean family with motor and sensory neuropathies, whole exome study (WES), histopathologic study of distal sural nerve, and lower limb MRIs were performed. RESULTS: WES revealed that a compound heterozygous mutation in HADHB is the causative of the present patients. The patients exhibited an early-onset axonal sensorimotor neuropathy without episodic myoglobinuria, and showed typical clinical and electrophysiological features of CMT including predominant distal muscle weakness and atrophy. Histopathologic findings of sural nerve were compatible with an axonal CMT neuropathy. Furthermore, they didn't exhibit any other symptoms of the previously reported HADHB patients. CONCLUSIONS: These data implicate that mutation in HADHB gene can also cause early-onset axonal CMT instead of typical manifestations in mitochondrial trifunctional protein (MTP) deficiency. Therefore, this study is the first report of a new subtype of autosomal recessive axonal CMT by a compound heterozygous mutation in HADHB, and will expand the clinical and genetic spectrum of HADHB.


Assuntos
Doença de Charcot-Marie-Tooth/etiologia , Doença de Charcot-Marie-Tooth/genética , Subunidade beta da Proteína Mitocondrial Trifuncional/genética , Mutação , Adolescente , Adulto , Estudos de Casos e Controles , Doença de Charcot-Marie-Tooth/patologia , Criança , Exoma , Feminino , Genes Recessivos , Heterozigoto , Humanos , Perna (Membro)/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Proteína Mitocondrial Trifuncional/deficiência , Atrofia Muscular/etiologia , Atrofia Muscular/genética , Linhagem , Polineuropatias/etiologia , Polineuropatias/genética , Nervo Sural/patologia , Adulto Jovem
12.
Pediatr Radiol ; 43 Suppl 1: S41-7, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23478918

RESUMO

High-resolution sonography using a stand-off pad or a gel mound is a standard technique for the evaluation of soft-tissue structures of the hands and feet in children. However, the complex curved surfaces of the hands and feet often yield suboptimal contact between the transducer and the skin. Additionally, the small field of view, relative compressibility of the soft-tissue structures by the transducer, patient motion and discomfort from contact of the transducer with the pathology often limit conventional US evaluation. A water-bath technique overcomes these limitations. We present our experience of water-bath technique of superficial sonography in 23 children. Water-bath technique was performed with good patient cooperation and was superior to the standard technique for depiction of shallow skin ulcers, subcutaneous masses, vascular malformations, osteomyelitis and foreign bodies.


Assuntos
Banhos , Doenças do Tecido Conjuntivo/diagnóstico por imagem , Extremidades/diagnóstico por imagem , Extremidades/lesões , Ultrassonografia/métodos , Criança , Pré-Escolar , Feminino , Humanos , Aumento da Imagem/métodos , Lactente , Recém-Nascido , Masculino
13.
Hum Mutat ; 32(6): 669-77, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21480433

RESUMO

Both peripheral neuropathy and distal myopathy are well-established inherited neuromuscular disorders characterized by progressive weakness and atrophy of the distal limb muscles. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss was diagnosed in a large autosomal dominant Korean family. A high density single nucleotide polymorphism (SNP)-based linkage study mapped the underlying gene to a region on chromosome 19q13.3. The maximum multipoint LOD score was 3.794. Sequencing of 34 positional candidate genes in the segregating haplotype revealed a novel c.2822G>T (p.Arg941Leu) mutation in the gene MYH14, which encodes the nonmuscle myosin heavy chain 14. Clinically we observed a sequential pattern of the onset of muscle weakness starting from the anterior to the posterior leg muscle compartments followed by involvement of intrinsic hand and proximal muscles. The hearing loss and hoarseness followed the onset of distal muscle weakness. Histopathologic and electrodiagnostic studies revealed both chronic neuropathic and myopathic features in the affected patients. Although mutations in MYH14 have been shown to cause nonsyndromic autosomal dominant hearing loss (DFNA4), the peripheral neuropathy, myopathy, and hoarseness have not been associated with MYH14. Therefore, we suggest that the identified mutation in MYH14 significantly expands the phenotypic spectrum of this gene.


Assuntos
Perda Auditiva/genética , Rouquidão/genética , Doenças Musculares/genética , Cadeias Pesadas de Miosina/genética , Miosina Tipo II/genética , Doenças do Sistema Nervoso Periférico/genética , Adolescente , Adulto , Sequência de Aminoácidos , Feminino , Estudos de Associação Genética , Ligação Genética , Haplótipos , Perda Auditiva/patologia , Rouquidão/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Doenças Musculares/patologia , Mutação , Doenças do Sistema Nervoso Periférico/patologia , Polimorfismo de Nucleotídeo Único , República da Coreia
14.
J Clin Med ; 10(21)2021 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-34768465

RESUMO

Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary peripheral neuropathy. Brain volumetry and diffusion tensor imaging (DTI) were performed in 47 controls and 47 CMT patients with PMP22 duplication (n = 10), MFN2 (n = 15), GJB1 (n = 11), or NEFL mutations (n = 11) to investigate for structural changes in the cerebellum. Volume of cerebellar white matter (WM) was significantly reduced in CMT patients with NEFL mutations. Abnormal DTI findings were observed in the superior, middle, and inferior cerebellar peduncles, predominantly in NEFL mutations and partly in GJB1 mutations. Cerebellar ataxia was more prevalent in the NEFL mutation group (72.7%) than the GJB1 mutation group (9.1%) but was not observed in other genotypic subtypes, which indicates that structural cerebellar abnormalities were associated with the presence of cerebellar ataxia. However, NEFL and GJB1 mutations did not affect cerebellar gray matter (GM), and neither cerebellar GM nor WM abnormalities were observed in the PMP22 duplication or MFN2 mutation groups. We found structural evidence of cerebellar WM abnormalities in CMT patients with NEFL and GJB1 mutations and an association between cerebellar WM involvement and cerebellar ataxia in these genetic subtypes, especially in the NEFL subgroup. Therefore, we suggest that neuroimaging, such as MRI volumetry or DTI, for CMT patients could play an important role in detecting abnormalities of cerebellar WM.

15.
Anesthesiology ; 113(4): 936-44, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20823762

RESUMO

BACKGROUND: Several studies have shown that stellate ganglion block (SGB) is an effective treatment for certain cerebrovascular related diseases; however, the direct effect of SGB on the cerebral vasculature is still unknown. The present study investigated the effect of SGB on the cerebral vascular system using magnetic resonance angiography. METHODS: Time-of-flight magnetic resonance angiography images of 19 healthy female volunteers (mean ages of 46.4 ± 8.9 yr) were obtained before and after SGB with 1.5-T magnetic resonance imaging. The authors determined successful interruption of sympathetic innervation to the head with the appearance of Horner syndrome and conjunctival injection. We measured changes in the average signal intensity and diameter of the major intracranial and extracranial arteries and their branches, which were presented with mean (±SE). RESULTS: The signal intensity changes were observed mainly in the ipsilateral extracranial vessels; the external carotid artery (11.2%, P < 0.001) and its downstream branches, such as the occipital artery (9.5%, P < 0.001) and superficial temporal artery (14.1%, P < 0.001). In contrast, the intensities of the intracranial arteries did not change with the exception of the ipsilateral ophthalmic artery, which increased significantly (10.0%, P = 0.008). After SGB, only the diameter of the ipsilateral external carotid artery was significantly increased (26.5%, P < 0.001). CONCLUSIONS: We were able to observe significant changes in the extracranial vessels, whereas the intracranial vessels were relatively unaffected (except for the ophthalmic artery), demonstrating that both perivascular nerve control and sympathetic nerve control mechanisms may contribute to the control of intracranial and extracranial blood vessels, respectively, after SGB.


Assuntos
Circulação Cerebrovascular/efeitos dos fármacos , Bloqueadores Ganglionares/farmacologia , Gânglio Estrelado/efeitos dos fármacos , Adulto , Angiografia Cerebral , Feminino , Síndrome de Horner/fisiopatologia , Humanos , Angiografia por Ressonância Magnética , Pessoa de Meia-Idade
16.
Eur Spine J ; 19(10): 1740-5, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20938694

RESUMO

Posterior spinal ligament pathology is becoming increasingly recognized as a significant cause of low back pain. Despite the growing clinical importance of interspinous ligament degeneration in low back pain patients, formal reliability studies for the magnetic resonance imaging (MRI) evaluation of interspinous ligaments have not been performed. We proposed an MRI classification system for interspinous ligament degeneration and conducted a comprehensive reliability and reproducibility assessment. Fifty patients who had low back pain with or without leg discomfort (26 males and 24 females) with a mean age of 48.8 years (range 23-85 years) were studied. The classification for lumbar interspinous ligament degeneration was developed on the basis of the literature using mid-sagittal T1- and T2-weighted images. Three spine surgeons independently graded a total of 200 interspinous ligament levels. Intraobserver and interobserver reliability were assessed by kappa statistics. The frequency of disagreement was also identified. The intraobserver agreement was excellent in all readers (kappa range 0.840-0.901). The interobserver agreement was lower as expected, and was substantial to excellent (kappa range 0.726-0.818). Overall complete agreement was obtained in 87.8% of all interspinous ligament levels. A difference of 1, 2, and 3 grades occurred in 8.1, 3.0, and 1.1% of readings, respectively. This proposed MRI classification of interspinous ligament degeneration was simple, reliable, and reproducible. Its use as a standardized nomenclature in clinical and radiographic research may be recommended.


Assuntos
Avaliação da Deficiência , Ligamentos/patologia , Dor Lombar/patologia , Vértebras Lombares/patologia , Imageamento por Ressonância Magnética/métodos , Espondilose/classificação , Espondilose/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Ligamentos/fisiopatologia , Dor Lombar/etiologia , Dor Lombar/fisiopatologia , Vértebras Lombares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Valor Preditivo dos Testes , Prognóstico , Reprodutibilidade dos Testes , Espondilose/fisiopatologia , Adulto Jovem
17.
Eur Spine J ; 19(6): 924-30, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20041271

RESUMO

Few studies have specifically examined the outcomes following rhBMP-2 usage in patients 65 years and older. The purpose of this retrospective study is to evaluate the efficacy of rhBMP-2 with allograft versus autograft for posterolateral lumbar fusion in patients 65 years and older. One hundred twenty-seven patients were divided into three groups based on fusion material and age. Subjects in group A (n = 34) consisted of patients 65 years and older who received rhBMP-2 and allograft. Group B (n = 52) was composed of patients under 65 years of age with rhBMP-2 and allograft. Subjects in group C (n = 41) were 65 years and older with autograft use. A comparison was made of fusion rate, fusion time (noticed, solid), clinical outcome, VAS, perioperative complications and revision rate between each group. The fusion rate and fusion time were similar in groups A and C; however, these were lower than that observed in group B. Clinical outcomes were similar amongst the groups. There were no significant differences in VAS and perioperative complication rate between groups A and C. In patients 65 years and older, rhBMP-2 with allograft may lead to acceptable fusion rates and fusion times, good clinical outcomes and reduced perioperative complications. The combination of rhBMP-2 with allograft yields equivalent outcomes as autograft in elderly patients undergoing instrumented posterolateral lumbar fusion. Additionally, when compared to patients under 65 years of age undergoing posterolateral lumbar fusion, the use of rhBMP-2 was not sufficient to overcome all aspects of the age-related weakened osteoinductive capacity encountered in elderly patients.


Assuntos
Proteína Morfogenética Óssea 2/uso terapêutico , Transplante Ósseo/métodos , Vértebras Lombares/cirurgia , Proteínas Recombinantes de Fusão/uso terapêutico , Fusão Vertebral/métodos , Espondilose/cirurgia , Fatores Etários , Idoso , Proteína Morfogenética Óssea 2/genética , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/patologia , Masculino , Avaliação de Resultados em Cuidados de Saúde , Radiografia , Proteínas Recombinantes de Fusão/farmacologia , Estudos Retrospectivos , Espondilose/diagnóstico por imagem , Espondilose/patologia , Transplante Autólogo/métodos , Transplante Homólogo/métodos , Resultado do Tratamento
18.
Taehan Yongsang Uihakhoe Chi ; 81(3): 644-653, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-36238636

RESUMO

Purpose: We aimed to analyze postoperative multidetector CT (MDCT) of acquired spondylolysis and spondylolisthesis after posterior lumbar laminectomy. Materials and Methods: We enrolled 74 patients, from 2003 to 2017, who underwent posterior lumbar laminectomy with both pre and postoperative MDCT. The patients were categorized into the following two groups: group 1 without fusion and group 2 with fusion. We analyzed laminectomy width, level and location of spondylolysis or spondylolisthesis, facet changes, and fatty infiltration of paraspinal muscles on postoperative MDCT. Results: Incidence of spondylolysis or spondylolisthesis was 4 of 20 patients in group 1 and 2 of 54 patients in group 2. The laminectomy width (%) was defined as the percentage of the width of laminectomy to total lamina length. Mean laminectomy width (%) in patients with spondylolysis or spondylolisthesis was 54.0 in group 1 and 53.2 in group 2, in contrast to that in patients without spondylolysis or spondylolisthesis, which was 35.0 in group 1. The spondylolysis was observed at the level of the laminectomy and below pars interarticularis in group 1 and below the fusion mass at isthmic region in group 2. Conclusion: MDCT facilitates the diagnosis of postsurgical acquired spondylolysis and spondylolisthesis and demonstrates typical location of spondylolysis. Greater laminectomy width has been associated with occurrence of acquired spondylolysis and spondylolisthesis.

19.
Nutrients ; 12(3)2020 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-32204312

RESUMO

Gastric ulcers are a common gastrointestinal disease across the globe. Alcohol consumption is the primary cause of gastric carcinogenesis and progression. We investigated the gastroprotective effects of fermented lotus root (FL) against ethanol (EtOH)/HCl-induced gastric ulcers in a rat model and the conceivable underlying mechanisms involved. Rats received different doses of FL (50, 100, and 200 mg/kg) or ranitidine (positive control, 30 mg/kg) via oral gavage daily for 14 days. One hour after the last oral administration of FL, the EtOH/HCl mixture was orally intubated to induce gastric damage. Oral administration of FL significantly alleviated the gastric lesions. Moreover, FL also elevated the amounts of nitric oxide and the antioxidant enzyme activities of superoxide dismutase, glutathione peroxidase, and catalase in the stomach. To verify the gastric mucosal defense mechanism, inflammation-related genes were measured. Our results revealed that FL effectively inhibited gastric mucosal damage via downregulation of the nuclear factor-kappaB (NF-κB) response in the stomach. The administration of FL significantly lowered the gastric mRNA expression of inflammation-related genes, including NF-κb1, tumor necrosis factor-α, interferon γ, and prostaglandin-endoperoxide synthase 2, compared with the gastric ulcer control group. In addition, the NF-κB signaling pathway-related protein markers inhibitor of κB (IκB)-α, IκB kinase, and NF-κB were significantly reduced in the FL groups. Taken together, these data suggest that FL administration may have potential as an alternative treatment for gastric ulcers due to its antioxidant and anti-inflammatory effects and its ability to promote the recovery of gastric mucosa.


Assuntos
Alimentos Fermentados , Mucosa Gástrica/efeitos dos fármacos , Lotus/química , Extratos Vegetais/farmacologia , Raízes de Plantas/química , Substâncias Protetoras/farmacologia , Úlcera Gástrica/prevenção & controle , Animais , Antiulcerosos/química , Antiulcerosos/farmacologia , Antioxidantes/química , Antioxidantes/farmacologia , Peso Corporal , Modelos Animais de Doenças , Mucosa Gástrica/metabolismo , Glutationa Peroxidase/metabolismo , Imuno-Histoquímica , Masculino , NF-kappa B/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Extratos Vegetais/química , Substâncias Protetoras/química , RNA Mensageiro/genética , Ratos , Úlcera Gástrica/tratamento farmacológico , Úlcera Gástrica/etiologia
20.
Nutr Res ; 75: 15-31, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31955012

RESUMO

Phellinus species is a mushroom used as traditional medicine in Eastern Asia. Research on Phellinus baumii (PB) is relatively limited; however, it has been reported to have antioxidant, DNA damage-protecting, immunostimulating, and antidiabetic activities. In our previous study on anti-inflammatory properties in lipopolysaccharide-stimulated RAW 264.7 cells and the various bioactive components of PB, we propose that PB could exert immune enhancing effects. Therefore, our current study aimed to investigate the immune-enhancing effect on immunosuppressed mice. Different concentrations of PB extract (0, 50, 100, 200, and 400 mg/kg body weight) were given to mice via oral gavage for 6 weeks accompanied by intraperitoneal cyclophosphamide administration to induce immunosuppression. A bone marrow micronucleus test was performed in mice to screen for potential genotoxic compounds. Splenocyte viability and proliferation, splenic and peritoneal natural killer cell activities, and hematological markers were then measured. Cytokines in the spleen and serum, as well as splenic mRNA levels of nuclear factor-κB; interferon-γ; tumor necrosis factor-α; and interleukin (IL)-1ß, IL-6, and IL-12, were determined in mice. As a result, PB ameliorated T- and B-lymphocyte proliferation, splenic and peritoneal NK cell activities, bone marrow cells, hematological markers, cytokine levels, and T-lymphocyte numbers. Moreover, serum and spleen cytokine levels and mRNA expression were elevated in the PB groups compared to controls. Our results suggest that the PB extract can be used as a potent immunomodulator under immunosuppressive conditions. Thus, PB may be used as a potent biofunctional and pharmaceutical material to potentially enhance human immunity.


Assuntos
Ciclofosfamida/farmacologia , Imunidade/efeitos dos fármacos , Terapia de Imunossupressão , Phellinus/química , Animais , Proliferação de Células/efeitos dos fármacos , Citocinas/análise , Citocinas/sangue , Citocinas/genética , Células Matadoras Naturais/imunologia , Linfócitos/imunologia , Camundongos , RNA Mensageiro/análise , Baço/química , Baço/citologia , Baço/imunologia
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