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1.
PLoS One ; 15(1): e0227190, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31917784

RESUMO

STUDY OBJECTIVES: Insomnia is the most common sleep disorder with significant psychiatric/physical comorbidities in the general population. The aim of this study is to investigate whether socioeconomic and demographic factors are associated with gender differences in insomnia and subtypes in Korean population. METHOD: The present study used data from the nationwide, cross-sectional study on sleep among all Koreans aged 19 to 69 years. The Insomnia Severity Index (ISI) was used to classify insomnia symptoms and their subtypes (cutoff value: 9.5). The Pittsburgh Sleep Quality Index (PSQI), Goldberg Anxiety Scale (GAS) and Patient Health Questionnaire-9 (PHQ-9) were used to measure sleep quality, anxiety and depression. RESULTS: A total of 2695 participants completed the survey. The overall prevalence of insomnia symptoms was 10.7%, including difficulty in initiating sleep (DIS) (6.8%), difficulty in maintaining sleep (DMS) (6.5%) and early morning awakening (EMA) (6.5%), and these symptoms were more prevalent in women than in men. Multivariate analysis showed that female gender, shorter sleep time and psychiatric complications were found to be independent predictors for insomnia symptoms and subtypes. After adjusting for covariates among these factors, female gender remained a significant risk factor for insomnia symptoms and their subtypes. As for men, low income was related to insomnia. CONCLUSION: Approximately one-tenth of the sample from the Korean general population had insomnia symptoms. The prevalence of insomnia symptom and the subtypes were more prevalent in women than men. Gender is an independent factor for insomnia symptoms.

2.
Neuroepidemiology ; : 1-7, 2020 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-31995800

RESUMO

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous disorders that primarily affect the peripheral nervous system. Epidemiological studies of CMT have not yet been performed in Korea. OBJECTIVES: This study was performed to estimate the prevalence of CMT in Korea and the socioeconomic status, mortality, and causes of death of Korean patients with CMT. METHODS: Data on patients with CMT were obtained from the rare intractable disease registry and the National Health Insurance Service for the years 2005-2018. RESULTS: During the study period, 2,885 CMT patients were enrolled. The prevalence per 100,000 persons in 2018 was 5.2 (6.1 for men and 4.4 for women), peaking at ages 15-39 years, with almost twice as many men (n = 714) as women (n = 402) in this age group. Of the CMT patients, 226 (7.8%) were receiving medical aid, a public assistance program targeting poor individuals, at the time of diagnosis and 253 (8.8%) at last follow-up or death. From 2005 to 2017, 170 patients died, including 118 men and 52 women. The standardized mortality ratio (SMR) was 1.57 (95% CI 1.34-1.83) for all patients and did not differ in men and women. Age-specific SMR was highest in patients aged under 9 years, gradually declining thereafter. Neurologic disease as a cause of death was significantly more frequent in CMT patients than in the general population. CONCLUSIONS: This was the first nationwide epidemiologic study of CMT patients in Korea. This study confirmed the characteristics associated with the prevalence of and mortality from CMT by age and is the first to report the socioeconomic status and causes of death of CMT patients.

3.
J Clin Neurosci ; 71: 186-190, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31439488

RESUMO

Dysferlinopathy is an autosomal recessive disease caused by pathogenic variants in DYSF gene. We compared muscle protein extracts from dysferlinopathy patients and control subjects to identify new biomarkers of this myopathy. We reviewed the medical records from January 2002 to October 2016. Eight vastus lateralis muscle samples from five dysferlinopathy patients and three control subjects were selected. We separated proteins/peptides from all eight muscle protein extracts using two-dimensional electrophoresis (2DE). Data were acquired from liquid chromatography-mass spectrometry protein fragmentation patterns after comparing the spot volumes. Western blotting revealed total dysferlin loss in the dysferlinopathy patients but normal expression in the control subjects. 2DE indicated somewhat diverse protein constellations between the dysferlinopathy and control groups. Image analysis showed that 80 spots were differently expressed between two dysferlinopathy and one control samples. We selected 44 spots with consistently different volume between dysferlinopathy and control groups. Liquid chromatography-mass spectrometry indicated 26 differently expressed proteins. Western blotting revealed that creatine kinase M-type, carbonic anhydrase III (muscle specific) and desmin were significantly elevated in dysferlinopathy muscle. Additionally, four proteins (myosin light chain 1/3, skeletal muscle isoform; lamin A/C; ankyrin repeat domain 2; and eukaryotic translation initiation factor 5A-1) were inconsistently elevated in the dysferlinopathy samples. We confirmed the usefulness of the classic biomarker and have newly identified the altered expression of proteins in the skeletal muscles of dysferlinopathy patients.

4.
J Clin Neurol ; 15(4): 429-437, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31591829

RESUMO

BACKGROUND AND PURPOSE: Neurological involvement in Behçet's disease [neuro-Behçet's disease (NBD)] is uncommon, but it is worth investigating since it can cause substantial disability. However, difficulties exist in understanding the clinical features of NBD due to regional variations and the lack of studies utilizing well-established diagnostic criteria. We therefore analyzed the clinical features of patients with NBD based on the recent international consensus recommendation. METHODS: We retrospectively searched electronic databases for patients with Behçet's disease (BD) between 2000 and 2017, and reviewed their medical records. Based on the recent international consensus recommendation, patients with definite or probable NBD were included. RESULTS: Of 9,817 patients with the diagnosis code for BD, 1,682 (17.1%) visited the neurology clinic and 110 (1.1%) were classified as NBD. Ninety-eight patients exhibited parenchymal NBD and 12 exhibited nonparenchymal NBD. Their age at the onset of NBD was 37.6±10.6 years and the male-to-female ratio was 1.24:1. Brainstem syndrome (43.9%) was the most common condition in the 98 patients with parenchymal NBD, followed by multifocal (32.7%) and spinal cord (12.2%) syndromes. 72.4% exhibited acute NBD and 27.6% exhibited a progressive disease course. Frequent manifestations included pyramidal signs (52.0%), headache (45.9%), dysarthria (42.9%), and fever (31.6%). A frequent pattern in brain MRI was an upper brainstem lesion extending to the thalamus and basal ganglia. CONCLUSIONS: Approximately 1% of the patients with suspected BD exhibited NBD. Neurologists must understand the clinical characteristics of NBD in order to perform the differential diagnosis and management of these patients.

5.
Carbohydr Polym ; 225: 115233, 2019 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-31521282

RESUMO

We herein report the effects of carboxymethylated cellulose nanofibril (c-CNF) on the microstructure, thermal and mechanical properties of waterborne polyurethane (WPU)-based nanocomposite films. For the purpose, an aqueous dispersion of hard/soft segmented WPU with a mean particle size of ∼169 nm was manufactured by using poly(propylene glycol), isophorone diisocyanate, 2,2-dimethylolpropionic acid and 1,4-butanediol. WPU nanocomposite films with 1-50 wt% c-CNF loadings were then manufactured via an efficient casting method. The FT-IR spectra revealed the presence of hydrogen-bonding interactions between the urethane/urea groups of WPU hard segments and the carboxymethyl/hydroxyl groups of c-CNF. Accordingly, the thermal and thermo-oxidative stability of the nanocomposite films was noticeably enhanced by the introduction of c-CNF. In addition, the storage moduli of the nanocomposite films as well as the glass transition temperatures of WPU hard segments increased significantly with increasing the c-CNF content by ∼7 wt% owing to the specific interactions between c-CNF and WPU hard segments.

6.
J Clin Neurol ; 15(3): 275-284, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31286697

RESUMO

BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom of foot drop or hip-girdle weakness eventually spreads to all limbs over a period of decades. Recent advances in pathophysiologic research have facilitated therapeutic trials aimed at resolving the core biochemical defect. However, there remains unsettled heterogeneity in its natural course, which confounds the analysis of therapeutic outcomes. We performed the first large-scale study of Korean patients with GNE myopathy. METHODS: We gathered the genetic and clinical profiles of 44 Korean patients with genetically confirmed GNE myopathy. The clinical progression was estimated retrospectively based on a patient-reported questionnaire on the status of the functional joint sets and daily activities. RESULTS: The wrist and neck were the last joints to lose antigravity functionality irrespective of whether the weakness started from the ankle or hip. Two-thirds of the patients could walk either independently or with an aid. The order of losing daily activities could be sorted from standing to eating. Patients with limb-girdle phenotype showed an earlier age at onset than those with foot-drop onset. Patients with biallelic kinase domain mutations tended to progress more rapidly than those with epimerase and kinase domain mutations. CONCLUSIONS: The reported data can guide the clinical management of GNE myopathy, as well as provide perspective to help the development of clinical trials.

7.
Sci Rep ; 9(1): 9131, 2019 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-31235735

RESUMO

The risk of osteoporosis in patients with chronic inflammatory neuropathy (CIN) has not been evaluated in detail. We conducted a population-based case-control study nested in a retrospective cohort to analyze osteoporosis risk among patients with CIN using a nationwide database. Patients with CIN based on the Korean Classification of Disease diagnostic code were included and were matched to controls. A Cox proportional hazards regression model was used to evaluate the effect of CIN on osteoporosis. After propensity score matching, 585 CIN patients and 585 controls were selected. Patients with CIN had an increased osteoporosis risk (hazard ratio [HR] = 2.293, 95% confidence interval [CI] 1.460-3.601) compared with controls. The osteoporosis risk was higher among male patients with CIN than among male controls (HR = 5.404, 95% CI 2.252-12.969), while there were no significant differences among women. Among the CIN patients, the average daily dose of corticosteroids was higher in those who developed osteoporosis (19.6 mg [10.8-49.3]) than those who did not (16.2 mg [7.2-29.1], p = 0.001). The osteoporosis risk among CIN patients is higher than among controls. High risk of osteoporosis in male patients may indicate that osteoporosis in CIN patients results from the disease itself or related treatments.

8.
Neuroepidemiology ; 53(1-2): 115-120, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31203286

RESUMO

BACKGROUND: Genetic myopathy is a clinically and genetically heterogeneous group of genetic disorders characterized by progressive degeneration of skeletal muscles. Epidemiological studies of genetic myopathy have not yet been performed in Korea. OBJECTIVES: This study used data from the national health insurance claims database to determine the prevalence and socioeconomic status of patients with genetic myopathy in Korea. METHODS: We analyzed the Health Insurance Review and Assessment database from 2007 to 2011. Patients with genetic myopathy were defined based on diagnostic and procedure codes. We then evaluated the prevalence, types of health insurances, and medical expenses of these patients. RESULTS: During the 11-year study period, 2,988 patients with genetic myopathy were enrolled. Among them, 1,762 were men and 1,226 were women. The prevalence per 100,000 population in 2017 was 3.09 (3.94 for men and 2.24 for women). The prevalence of genetic myopathy among men <35 years old (8.33 per 100,000 population) was approximately twice that among women <35 years old (4.06 per 100,000 population). However, there was no significant difference in the prevalence of genetic myopathy among those ≥35 years old according to sex. The ratio of patients using medical aid among all genetic myopathy patients was approximately 4 times than that among the general population in Korea. The medical expenses per person for genetic myopathy increased from USD 2,027 in 2007 to USD 4,810 in 2017. CONCLUSIONS: Our study was the first nationwide epidemiologic study of the prevalence and socioeconomic status of patients with genetic myopathy in Korea. Our results confirmed a sex divergence in a younger population and those with low socioeconomic status among patients with genetic myopathy.

9.
Cell Mol Biol Lett ; 24: 28, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31061665

RESUMO

Background: Hypoxia-inducible factor-1α (HIF-1α) is a transcription factor with a pivotal role in physiological and pathological responses to hypoxia. While HIF-1α is known to be involved in hypoxia-induced upregulation of microRNA (miRNA) expression, HIF-1α is also targeted by miRNAs. In this study, miRNAs targeting HIF-1α were identified and their effects on its expression and downstream target genes under hypoxic conditions were investigated. Cell migration under the same conditions was also assessed. Methods: microRNAs that target HIF-1α were screened using 3'-untranslated region luciferase (3'-UTR-luciferase) reporter assays. The expression levels of HIF-1α and its downstream target genes after transfection with miRNA were assessed using quantitative RT-PCR and western blot analyses. The effect of the miRNAs on the transcriptional activity of HIF-1α was determined using hypoxia-responsive element luciferase (HRE-luciferase) assays. Cell migration under hypoxia was examined using the wound-healing assay. Results: Several of the 19 screened miRNAs considerably decreased the luciferase activity. Transfection with miR-200c had substantial impact on the expression level and transcription activity of HIF-1α. The mRNA level of HIF-1α downstream genes decreased in response to miR-200c overexpression. MiR-200c inhibited cell migration in normoxia and, to a greater extent, in hypoxia. These effects were partly reversed by HIF-1α expression under hypoxic conditions. Conclusion: miR-200c negatively affects hypoxia-induced responses by downregulating HIF-1α, a key regulator of hypoxia. Therefore, overexpression of miR-200c might have therapeutic potential as an anticancer agent that inhibits tumor hypoxia.


Assuntos
Movimento Celular/genética , Regulação para Baixo/genética , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , MicroRNAs/metabolismo , Regiões 3' não Traduzidas/genética , Sequência de Bases , Hipóxia Celular/genética , Linhagem Celular Tumoral , Metilação de DNA/genética , Regulação Neoplásica da Expressão Gênica , Genes Reporter , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Luciferases/metabolismo , MicroRNAs/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Transcrição Genética , Regulação para Cima/genética , Cicatrização
10.
ACS Appl Mater Interfaces ; 11(22): 20257-20264, 2019 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-31074258

RESUMO

Transition metal dichalcogenides (TMDCs) are promising two-dimensional (2D) materials for realizing next-generation electronics and optoelectronics with attractive physical properties. However, monolayer TMDCs (1LTMDCs) have various serious issues, such as instability under ambient conditions and low optical quantum yield from their extremely thin thickness of ∼0.7 nm. To overcome these issues, we constructed a hybrid structure (HS) by growing zinc oxide nanorods (ZnO NRs) on a monolayer tungsten diselenide (1LWSe2) using the hydrothermal method. Consequently, we confirmed not only enhanced photoluminescence of 1LWSe2 but also improved optoelectronic properties by fabricating the HS phototransistor. Through various investigations, we found that these phenomena were due to the antenna and p-type doping effects attributed to the ZnO NRs. In addition, we verified that the optoelectronic properties of 1LTMDCs are maintained for 2 weeks in ambient condition through the sustainable encapsulation effect induced by our HS. This encapsulation method with inorganic materials is expected to be applied to improve the stability and performance of various emerging 2D material-based devices.

11.
Neuromuscul Disord ; 29(4): 274-281, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30853170

RESUMO

ADSSL1 myopathy was recently identified as the cause of muscular disorders in Korean patients with distal myopathy. We generated transcriptome profiles of muscles from control subjects and patients with ADSSL1 myopathy. In the present study, RNA sequencing was conducted with seven vastus lateralis muscle samples from four patients with ADSSL1 myopathy and three control subjects. The hierarchical clustering result revealed a separation between myopathy and control groups. A total of 1,260 transcripts were significantly differentially expressed (|fold change| ≥ 2, p < 0.05), with 740 upregulated transcripts and 520 downregulated transcripts in myopathy group. Eighteen transcripts that mapped to purine metabolism pathway were significantly differentially expressed between the two groups, with ten downregulated transcripts and eight upregulated transcripts in myopathy group. In particular, three genes involved in purine nucleotide cycle (ADSSL1, ADSL, and AMPD1) were significantly downregulated in myopathy group. Ten transcripts in glycolysis/gluconeogenesis pathway were also significantly differentially expressed. This is the first study on the altered expression of transcripts in muscle tissues from patients with ADSSL1 myopathy. Our results provide new insights into the pathogenesis of ADSSL1 myopathy.

12.
J Neurol ; 266(4): 960-968, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30726532

RESUMO

Whether thymectomy is beneficial in elderly patients with myasthenia gravis (MG) is unclear. Thus, we assessed whether conducting thymectomy in MG patients aged ≥ 50 years is beneficial. This retrospective cohort study included patients with MG between 1990 and 2018. Thymectomy and control cohorts were selected from among the population of MG patients with an age at onset of ≥ 45 years and elevated concentrations of acetylcholine-receptor antibodies. Patients with evidence of thymic malignancy were excluded. Of these patients, those who underwent thymectomy at the age of ≥ 50 years were designated as the thymectomy group and those who received only medical treatment were designated as the medical treatment group. We compared the Myasthenia Gravis Foundation of America post-intervention status between the thymectomy and medical treatment groups. Landmark analysis was conducted with the landmark set at 24 months. A total of 34 and 105 patients were classified into the thymectomy and medical treatment groups, respectively. Before landmark analysis, the thymectomy group had a higher cumulative incidence of pharmacologic remission (p = 0.009) and complete stable remission (p = 0.022) than the medical treatment group. After landmark analysis, the thymectomy group had a 2.22-fold (95% confidence interval 1.01-4.80) increased chance of achieving pharmacologic remission compared to the medical treatment group after adjustment for age, sex, and disease severity. No significant difference was observed in the rate of relapse after pharmacological remission between the thymectomy (16.7%) and medical treatment groups (21.4%). In conclusion, thymectomy may have a beneficial effect in elderly patients with non-thymomatous generalized MG.


Assuntos
Miastenia Gravis/cirurgia , Timectomia , Idoso , Terapia Combinada , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/tratamento farmacológico , Miastenia Gravis/epidemiologia , Recidiva , Indução de Remissão , Estudos Retrospectivos , Resultado do Tratamento
13.
Mult Scler Relat Disord ; 28: 283-285, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30639831

RESUMO

BACKGROUND: Previous studies strongly suggested the absence of cortical involvement in neuromyelitis optica spectrum disorder. METHODS: We describe two patients with anti-aquaporin-4 antibody and cortical lesions. RESULTS: A 58-year-old and a 61-year-old woman presented with status epilepticus and right leg numbness, respectively. Double inversion recovery (DIR) and phase-sensitive inversion recovery (PSIR) imaging, magnetic resonance imaging sequences that enable the clear delineation of gray matter, revealed intracortical lesions and lesions located across the cortex and subcortex. CONCLUSION: Although rare, cortical involvement may exist in aquaporin-4 antibody-positive patients. DIR and PSIR MRI can help to determine the exact location of the lesion.


Assuntos
Aquaporina 4/imunologia , Autoanticorpos/imunologia , Doenças Autoimunes do Sistema Nervoso/diagnóstico por imagem , Doenças Autoimunes do Sistema Nervoso/imunologia , Encéfalo/diagnóstico por imagem , Imagem por Ressonância Magnética , Doenças Autoimunes do Sistema Nervoso/terapia , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Pessoa de Meia-Idade
16.
Neuromuscul Disord ; 28(10): 837-845, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30172468

RESUMO

Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. We performed lower-extremity muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A gene at an interval of 30 months. Muscle atrophy, edematous change, fatty change, and fat fraction quantified using the Dixon technique were compared with the previous MRI findings. The lower-extremity MRI scan showed progressive muscle pathologic findings when compared with the previous study. Muscle atrophy, edematous change, and fatty change were prominent in the superficial posterior compartment of the lower leg. The follow-up lower-extremity muscle MRI findings provide evidence for chronic progressive myopathy and suggest the usefulness of MRI for assessing disease progression in patients with hyperKPP. This study is meaningful in terms of providing data showing the longitudinal changes of muscles in patients with periodic paralysis.


Assuntos
Imagem por Ressonância Magnética , Músculo Esquelético/diagnóstico por imagem , Mutação , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Paralisia Periódica Hiperpotassêmica/diagnóstico por imagem , Paralisia Periódica Hiperpotassêmica/genética , Tecido Adiposo/diagnóstico por imagem , Adolescente , Adulto , Atrofia , Progressão da Doença , Família , Feminino , Seguimentos , Humanos , Extremidade Inferior/diagnóstico por imagem , Masculino , Força Muscular , Músculo Esquelético/patologia , Fenótipo , Adulto Jovem
17.
Yonsei Med J ; 59(5): 698-701, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29869469

RESUMO

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. In the past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan. Here, we report on three LGMD1D patients, including one with a novel mutation in DNAJB6, c.298T>A. While two patients complained of limb-girdle weakness, as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. Radiologic findings in one patient showed fatty degeneration and atrophy in the posterior part of distal muscles. Pathologic findings in one of the patients showed rimmed vacuoles. Although LGMD1D is still uncommon in Korea, we discovered three Korean patients with LGMD1D, including one novel mutation in DNAJB6, p.Phe100Ile (c.298T>A).


Assuntos
Proteínas de Choque Térmico HSP40/genética , Imagem por Ressonância Magnética , Chaperonas Moleculares/genética , Debilidade Muscular/diagnóstico por imagem , Distrofia Muscular do Cíngulo dos Membros/diagnóstico por imagem , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação de Sentido Incorreto , Proteínas do Tecido Nervoso/genética , Adulto , Creatina Quinase/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/etiologia , Debilidade Muscular/genética , Músculo Esquelético/patologia , República da Coreia
18.
Muscle Nerve ; 58(3): 407-412, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29896772

RESUMO

INTRODUCTION: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients possess multiple risk factors for osteoporosis, but few studies have evaluated bone mineral density (BMD) in CIDP patients. METHODS: We retrospectively compared the BMD of CIDP patients with that of normal controls, and evaluated the clinical factors associated with osteoporosis. RESULTS: Total BMD was lower in CIDP patients than in normal controls (P = 0.017). In a comparison of 16 osteoporotic CIDP patients with 25 non-osteoporotic patients, the cumulative prednisolone dose was lower (P = 0.022) and the duration from disease onset to BMD measurement was shorter (P = 0.014) in osteoporotic patients than in non-osteoporotic patients. Function, as measured by modified Rankin scale score within 3 years of the BMD measurement, was worse in osteoporotic than in non-osteoporotic patients (P = 0.008). DISCUSSION: BMD in CIDP patients was significantly lower than in normal controls. Functional status rather than cumulative steroid dose was associated with osteoporosis. Muscle Nerve 58: 407-412, 2018.


Assuntos
Densidade Óssea/fisiologia , Osteoporose/diagnóstico por imagem , Osteoporose/epidemiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico por imagem , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/epidemiologia , Absorciometria de Fóton/métodos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco
20.
J Clin Neurol ; 14(1): 58-65, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29629541

RESUMO

BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed. RESULTS: Seven different mutations were identified, including two novel mutations: c.5915A>T and c.12250C>T. All of the patients presented at infancy with proximal dominant weakness and delayed motor milestones. Other clinical findings were scoliosis in three patients, winged scapula in two, hip dislocation in one, and pectus excavatum in one. Ophthalmoplegia was observed in one patient with a novel recessive mutation. Two of three muscle specimens revealed a myopathic pattern with core. CONCLUSIONS: We have identified a novel compound heterozygous RYR1 mutation and demonstrated clinical and pathologic findings in five Korean patients with RYR1-related CM.

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