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ObjectivesãTo develop and assess the reliability and validity of a scale measuring subjective quality of life (QOL), which encompasses the "strength and ability" to live positively through the three dimensions of biological life, everyday life, and overall course of life, in order to support QOL in older adults.MethodsãWe reviewed related literature and conducted interviews with patients with chronic diseases. Participants rated their QOL on a seven-point scale using the visual analog scale. Interviewer-administered questionnaires were used to collect data from 100 older adults living in their own homes. The participants were between the ages of 70 and 84, and were recruited from comprehensive community support centers or from among hospital outpatients. We assessed scale reliability using Cronbach's α, item-total (I-T) correlation analysis, and calculation of α coefficient-if-item-deleted. We examined content validity by analyzing the content of the free response items. To evaluate construct validity, we carried out a hierarchical multiple regression analysis, examined the semantic content of the factors related to subjective QOL, and confirmed consistency with previous studies.ResultsãRegarding the reliability analysis of the scale, the α coefficient was 0.898, and both the I-T correlation and α coefficient-if-item-deleted exceeded the minimum value considered reliable. In examining content validity, the categories extracted for each of the three dimensions were found to demonstrate the characteristics of the general ideas of each dimension of QOL. Thus, the scale was confirmed to have overall content validity. As for the assessment of validity of its constitutive concepts, subjective QOL scores were significantly high among participants who had jobs, had role-related or financial capacity, used two or more nursing services, or scored high in perceived health competence, social networking, and sense of coherence (SOC). In addition, "meaningfulness" of SOC, and financial capacity had significant correlations with subjective QOL. These results are consistent with past research and therefore confirm construct validity.ConclusionãThis study sufficiently confirmed the reliability and validity of the scale, and consequently its usability.
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Promoção da Saúde/métodos , Qualidade de Vida , Projetos de Pesquisa , Inquéritos e Questionários , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos de Viabilidade , Feminino , Estilo de Vida Saudável , Humanos , Masculino , Análise de Regressão , Reprodutibilidade dos Testes , Senso de Coerência , Escala Visual AnalógicaRESUMO
A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated variants with diverse genomic and biological data sets to provide insight into disease pathogenesis and guide drug discovery for complex traits such as rheumatoid arthritis (RA). Here we performed a genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries (29,880 RA cases and 73,758 controls), by evaluating â¼10 million single-nucleotide polymorphisms. We discovered 42 novel RA risk loci at a genome-wide level of significance, bringing the total to 101 (refs 2 - 4). We devised an in silico pipeline using established bioinformatics methods based on functional annotation, cis-acting expression quantitative trait loci and pathway analyses--as well as novel methods based on genetic overlap with human primary immunodeficiency, haematological cancer somatic mutations and knockout mouse phenotypes--to identify 98 biological candidate genes at these 101 risk loci. We demonstrate that these genes are the targets of approved therapies for RA, and further suggest that drugs approved for other indications may be repurposed for the treatment of RA. Together, this comprehensive genetic study sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis, and provides empirical evidence that the genetics of RA can provide important information for drug discovery.
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Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/genética , Descoberta de Drogas , Predisposição Genética para Doença/genética , Terapia de Alvo Molecular , Alelos , Animais , Artrite Reumatoide/metabolismo , Artrite Reumatoide/patologia , Povo Asiático/genética , Estudos de Casos e Controles , Biologia Computacional , Reposicionamento de Medicamentos , Feminino , Estudo de Associação Genômica Ampla , Neoplasias Hematológicas/genética , Neoplasias Hematológicas/metabolismo , Humanos , Masculino , Camundongos , Camundongos Knockout , Polimorfismo de Nucleotídeo Único/genética , População Branca/genéticaRESUMO
Although infectious mononucleosis due to Epstein-Barr virus (EBV) is a common disease among young individuals, central nervous system (CNS) complications are rare. In this report, we describe a case of CNS complications caused by EBV in a previously healthy young woman. She presented to our hospital with a 9-day history of headache and sore throat, followed by the development of fever and facial edema 6 days prior to admission. On Day 2 of admission, she was confused (Glasgow Coma Scale score: 10 points) and had fever, muscle weakness in her right arm and leg, stiff neck, and roving eye movement. We detected EBV in a cerebrospinal fluid (CSF) sample using a polymerase chain reaction (PCR) test. The magnetic resonance imaging of her brain revealed dural enhancement and right parietal and temporal lobe lesions. She was treated with acyclovir and high-dose steroid therapy. She responded well to treatment, recovered without neurologic sequelae, and was discharged home on Day 12. Our experience suggests that PCR detection of EBV DNA in CSF may be useful in diagnosing EBV encephalitis and that prognosis may be associated with an area of the brain that is affected and the time from symptom onset to starting treatment.
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Encefalite Viral/diagnóstico , Infecções por Vírus Epstein-Barr/diagnóstico , Herpesvirus Humano 4/isolamento & purificação , Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Encéfalo , DNA Viral/líquido cefalorraquidiano , DNA Viral/isolamento & purificação , Quimioterapia Combinada/métodos , Encefalite Viral/líquido cefalorraquidiano , Encefalite Viral/tratamento farmacológico , Encefalite Viral/virologia , Infecções por Vírus Epstein-Barr/líquido cefalorraquidiano , Infecções por Vírus Epstein-Barr/tratamento farmacológico , Infecções por Vírus Epstein-Barr/virologia , Escala de Coma de Glasgow , Glucocorticoides/uso terapêutico , Herpesvirus Humano 4/genética , Humanos , Imageamento por Ressonância Magnética , Reação em Cadeia da Polimerase , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVE: The Sauvé-Kapandji procedure is a common surgical procedure for rheumatoid wrist, which involves fixing dissected ulnar head to the distal radius in order to provide "bony support" to the carpus. The purpose of this study was to investigate whether the position of the fixed ulnar head was associated with postsurgical carpus translocation. METHODS: We retrospectively reviewed radiographs of 40 patients who underwent the Sauvé-Kapandji procedure and were subsequently followed up for over two years. The association between the fixed ulnar head position and postsurgical carpus translocation was statistically analysed with a confidence interval of 95% (p < 0.05). RESULTS: Multiple regression analysis suggested that the radial inclination of the fixed ulnar head, the absence of increases in ulnar variance, and wide "bony support" were significantly associated with less postsurgical carpal translocation. CONCLUSION: Our study indicated that good concordance between the "bony support" and the carpus might be important in reducing postsurgical carpus translocation.
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Artrite Reumatoide/cirurgia , Rádio (Anatomia)/cirurgia , Ulna/cirurgia , Articulação do Punho/cirurgia , Adulto , Idoso , Artrite Reumatoide/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos/métodos , Radiografia , Rádio (Anatomia)/diagnóstico por imagem , Estudos Retrospectivos , Resultado do Tratamento , Ulna/diagnóstico por imagem , Articulação do Punho/diagnóstico por imagemRESUMO
Recent advances in medication choices have strikingly improved the management of rheumatoid arthritis. However, medication alone cannot place back already deformed joints. Thus, to prevent metacarpophalangeal (MP) joint destruction, joint deformity correction should be considered since mechanical stress induced by finger motions will eventually destruct the undestructed joint, with a possibility of recurrence and future implant arthroplasty in mind since RA still remains as a progressive disease. We report a modified metacarpal shortening osteotomy for correcting MP joint deformity. The advantage of our technique over previous osteotomies is that it easily allows for subsequent implant arthroplasty even after the recurrence of joint deformity/destruction. Major modifications include that the metacarpal is shortened at its mid-shaft and the osteotomy is performed vertical to the shaft and fixed with surgical wiring. We believe that combination therapy consisting of medication and surgery is preferable to prevent joint destruction, even in this age of biological agents.
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Artrite Reumatoide/cirurgia , Ossos Metacarpais/cirurgia , Articulação Metacarpofalângica/cirurgia , Osteotomia/métodos , Humanos , Próteses e ImplantesRESUMO
OBJECTIVES: Rheumatoid arthritis (RA) is the most common immune-related inflammatory arthritis affecting 0.5-1.0% of the population. Both genetic and environmental factors are associated with RA onset. Twin studies reported from European countries estimated heritability of RA as 53-65%. However, no twin studies have been reported from Asian countries. METHODS: We collected a total of 43 monozygotic and 43 dizygotic twins from 7550 patients with RA and obtained information of RA status in the twin pairs. We characterized RA patients whose twin siblings had RA. Variance components analysis was performed to estimate heritability in RA in the Japanese population. RESULTS: Four and one patients with RA over 43 monozygotic (9.3%) and 43 dizygotic twins (2.3%), respectively, had twin siblings with RA. All the patients whose information of sero-positivity was available and whose twin siblings had RA were sero-positive. Heritability of RA was estimated as 62.2% and 56.1% in the AE and ACE models, respectively. The estimated heritability was comparable with those reported in the Europeans, compatible with previous overlap of RA susceptibility genes between Japanese and European populations. CONCLUSIONS: Heritability of RA onset in the Japanese population is estimated to be comparable with that in European populations.
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Artrite Reumatoide/genética , Doenças em Gêmeos/genética , Predisposição Genética para Doença , Artrite Reumatoide/epidemiologia , Doenças em Gêmeos/epidemiologia , Feminino , Humanos , Japão/epidemiologia , Masculino , PrevalênciaRESUMO
OBJECTIVES: A self-administered foot evaluation questionnaire (SAFE-Q) was developed by the Japanese Society for Surgery of the Foot (JSSF). The aim of this study is to evaluate the validity and responsiveness of the SAFE-Q in patients with rheumatoid arthritis (RA). METHODS: In total, 180 patients with RA answered the SAFE-Q. Of 180 patients, 34 answered the SAFE-Q twice, preoperatively and postoperatively, to assess responsiveness. Construct validity was tested by comparing the 5 SAFE-Q subscales and the JSSF standard rating system for the RA foot and ankle scale (JSSF-RA), a Japanese version of the Health Assessment Questionnaire (JHAQ), disease activity score in 28 joints (DAS28), simplified disease activity index (SDAI), and clinical disease activity index (CDAI). Responsiveness was examined by calculating the standardized response mean (SRM) and effect size (ES) 3 months after surgery. RESULTS: There were moderate correlations between the SAFE-Q and the JSSF-RA and JHAQ. Conversely, a low correlation was observed between the SAFE-Q and DAS28, SDAI, and CDAI. The responsiveness was high, with an SRM of 0.9 and ES of 0.7 for pain subscales. CONCLUSION: SAFE-Q is a useful tool for assessing the foot and ankle in RA patients.
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Artrite Reumatoide/fisiopatologia , Avaliação da Deficiência , Pé/fisiopatologia , Dor/diagnóstico , Qualidade de Vida , Inquéritos e Questionários , Atividades Cotidianas , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dor/fisiopatologia , Medição da Dor , Índice de Gravidade de DoençaRESUMO
A 30-year-old woman with corrected transposition of great arteries (c-TGA) was scheduled for elective cesarean section at 37 weeks of gestation. At previous cesarean section, she received general anesthesia for dyspnea and lower cardiac function by severe mitral regurgitation, with a pulmonary catheter inserted. In the current pregnancy, she had tricuspid regurgitation, but she had no signs of heart failure. Cardiac index (CI) and stroke volume variation (SVV) were monitored by the FloTrack, before induction of anesthesia. Because the CI was 3.6 l x min(-1) x m(-2), and the SVV was 18%, we decided to perform combined spinal epidural anesthesia. Epidural anesthesia was performed at L1-2, and spinal anesthesia was performed at L3-4. Hyperbaric 0.5% bupivacaine 2.0 ml with fentanyl 10 µg was given to the subarachnoid space. The total dose of phenylephrine administered was 150 µg, and the CI as well as the SVV were stable during surgery. Her postpartum couse was uneventful. Anesthetic management of c-TGA is discussed, and we should select anesthetic method carefully.
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Anestesia Obstétrica , Cesárea , Complicações Cardiovasculares na Gravidez , Transposição dos Grandes Vasos/complicações , Adulto , Transposição das Grandes Artérias Corrigida Congenitamente , Feminino , Humanos , Gravidez , Resultado da Gravidez , Radiografia , Transposição dos Grandes Vasos/diagnóstico por imagemRESUMO
Spinal anesthesia was attempted in a 21-year-old woman for acute cesarean section with lumbar puncture at L3-4 and L4-5 in another hospital, but it was abandoned after more than 10 attempts because no cerebrospinal fluid (CSF) was seen flowing. She was transferred to our hospital, and we attempted spinal anesthesia at L2-3 and CSF was seen flowing. Although 0.5% hyperbaric bupivacaine 2.0ml was injected, the anesthetic effect was insufficient. At this point we injected 0.5% hyperbaric bupivacaine 1.5 ml in the same space and she developed sensory block up to T3. Surgery proceeded uneventfully. There were no postoperative neurological complications related to spinal anesthesia.
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Anestesia Obstétrica/métodos , Raquianestesia/métodos , Cesárea , Pressão do Líquido Cefalorraquidiano , Emergências , Feminino , Humanos , GravidezRESUMO
BACKGROUND: We report two cases of biceps brachii and brachialis paralysis due to musculocutaneous nerve injury in which elbow joint flexion was reconstructed using rotational transfer of the latissimus dorsi muscle with sutures to the radial and ulnar tuberosities, thereby enabling flexion by simultaneous activation of the humeroradial and humeroulnar joints. In cases of associated brachialis paralysis, weaker flexion strength can be expected when the forearm is in a pronated position than when it is in a supinated state. To the best of our knowledge, no previous study has reported the rotational position of the forearm during elbow joint flexion reconstruction. CASE PRESENTATION: Case 1 involved a 30-year-old Asian male who presented with a rupture of the musculocutaneous, median, radial, and ulnar nerves. Reconstruction was performed by rotational transfer of the latissimus dorsi muscle. In this case, the supination and pronation flexion forces were equal. Case 2 involved a 50-year-old Asian man who presented with partial loss of the musculocutaneous nerve, biceps brachii, and pectoralis major due to debridement. Reconstruction was performed by rotational transfer of the latissimus dorsi muscle. In this case, supination and pronation flexion strengths were demonstrated to be equal. Our reconstruction method used the rotational transfer of the latissimus dorsi muscle; the distal muscle flap was divided into radial and ulnar sides to allow elbow joint flexion by simultaneously activating the humeroradial and humeroulnar joints. These sides were then fixed to the anchors at the radial and ulnar tuberosities. Finally, they were wrapped around the myotendinous junction of the biceps brachii or brachialis and secured using sutures. CONCLUSIONS: Although larger studies are required to verify these methods, this case study successfully demonstrates the following: (1) the flexion strength in the supinated position was equal to that in the pronated position; (2) the stability of the humeroradial and humeroulnar joints was unaffected by the forearm's rotational position; and (3) a satisfactory range of motion of the elbow joint was obtained, with no complications.
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Articulação do Cotovelo , Músculos Superficiais do Dorso , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Cotovelo , Articulação do Cotovelo/cirurgia , Paralisia , Amplitude de Movimento ArticularRESUMO
Mycobacterium genavense, a nontuberculous Mycobacterium, is found in immunosuppressed patients, particularly in those with HIV. Mycobacterium genavense incubation under standard culture conditions is difficult, and its identification is challenging using routine culture methods. Herein, we report the case of a 40-year-old Japanese man with HIV presenting with disseminated M. genavense infection. An analysis using an automated blood culture system did not show positive signals during 6 weeks of incubation. However, an acid-fast bacilli smear of his blood sample was positive for the bacterium. Mycobacterium genavense was identified using sequencing analysis, targeting the heat shock protein 65 gene. The patient recovered from the infection, following antibiotic therapy for 18 months. Under suspicion of disseminated M. genavense infection and the absence of bacterial growth in blood culture samples, an acid-fast bacilli smear test of the sample may be useful for timely diagnosis.
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Infecções por Mycobacterium não Tuberculosas , Mycobacterium , Adulto , Hemocultura , Humanos , Hospedeiro Imunocomprometido , Masculino , Mycobacterium/genética , Infecções por Mycobacterium não Tuberculosas/diagnóstico , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológicoRESUMO
We present a case of a man infected with human immunodeficiency virus (HIV) and who was diagnosed with Cytomegalovirus (CMV) colitis shortly after initiation of antiretroiviral therapy (ART). CMV colitis should be considered in diarrheal patients with HIV infection even after initiation of ART.
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INTRODUCTION: Mycoplasma hominis is associated with genito-urinary tract infection and adverse pregnancy outcomes. However, whether the species is a true pathogen or part of the genito-urinary tracts natural flora remains unclear. CASE PRESENTATION: A 41-year-old pregnant woman was admitted to our hospital at 38 weeks and 5 days of gestation owing to premature rupture of the membranes. The patient delivered by caesarean section. Subsequently, the patient complained of lower abdominal pain and had persistent fever. Enhanced computed tomography revealed pelvic abscesses. Gram staining of pus from the abscess and vaginal secretions indicated presence of polymorphonuclear leucocytes but no pathogens. Cultures on blood agar showed growth of pinpoint-sized colonies in an anaerobic environment within 48 h. Although administration of carbapenem and metronidazole was ineffective and we could not fully drain the abscess, administration of clindamycin led to clinical improvement. The isolates 16S rRNA gene and yidC gene sequences exhibited identity with those of M. hominis. CONCLUSION: Physicians should consider M. hominis in cases of pelvic abscesses where Gram staining yields negative results, small colonies are isolated from the abscess and treatment with ß-lactam antibiotics is ineffective.
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We developed an apparatus containing a NaI(Tl) scintillator to measure the (134)Cs and (137)Cs radioactivity of soil contaminated by the Fukushima Daiichi Nuclear Power Plant accident. The unfolding method with the least-squares technique was used to determine the radioactivity. Detector responses for each radionuclide in soil were calculated with EGS5 code for the unfolding method. The radionuclides that were measured were (40)K, (134)Cs, (137)Cs, (208)Tl, (214)Bi, and (228)Ac. The measured spectrum agreed well with the spectrum calculated from the response matrix and measured radioactivities. The unfolding method allows us to use the NaI(Tl) scintillator despite the overlap of peaks.
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Radioisótopos de Césio/análise , Acidente Nuclear de Fukushima , Contagem de Cintilação/instrumentação , Poluentes Radioativos do Solo/análise , Desenho de Equipamento , Raios gama , Análise dos Mínimos Quadrados , Contagem de Cintilação/estatística & dados numéricosRESUMO
OBJECTIVE: The shared epitope is associated with increased joint destruction in rheumatoid arthritis (RA) as well as susceptibility to RA and the production of anti-citrullinated protein antibody (ACPA). However, previous studies addressing whether the association of the shared epitope with joint destruction is independent of ACPA have shown different results in different populations. Different allele distributions in the shared epitope may explain this ethnic heterogeneity. This study was undertaken to assess the associations of the shared epitope and HLA-DRB1*04:05, the most common shared epitope allele in the Japanese population, with joint destruction in patients with ACPA-positive RA. METHODS: A total of 861 patients with ACPA-positive RA who had not received any biologic agents were recruited from the institute of Rheumatology, Rheumatoid Arthritis cohort (sets 1 and 2) and the Kyoto University Rheumatoid Arthritis Management Alliance cohort (set 3). Joint destruction was assessed using the modified Sharp/van der Heijde score (SHS). The associations of the shared epitope alleles, HLA-DRB1*04:05, and other shared epitope allele groups with the SHS were analyzed in a linear regression analysis. Amino acid variations associated with the SHS were also analyzed. RESULTS: The shared epitope was significantly associated with an increased SHS (P = 0.0017). Although HLA-DRB1*04:05 was significantly associated with an increased SHS (P = 2.7 × 10(-5)), the group of other shared epitope alleles, including HLA-DRB1*01:01, did not show an association with the SHS in spite of sufficient power (P = 0.67). HLA-DRB1*04:05 was associated with joint destruction in a dose-dependent manner. Analyses of amino acid associations of HLA-DRB1 revealed that serine at position 57, recently shown to have a susceptibility effect for ACPA-positive RA in Asian populations, showed a significant association (P = 5.0 × 10(-6)). CONCLUSION: HLA-DRB1*04:05, characterized by serine at position 57, accounts for the detrimental association between the shared epitope and SHS in Japanese patients with ACPA-positive RA.
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Anticorpos Anti-Idiotípicos/sangue , Artrite Reumatoide/genética , Artrite Reumatoide/imunologia , Epitopos/genética , Cadeias HLA-DRB1/genética , Articulação da Mão/diagnóstico por imagem , Peptídeos Cíclicos/imunologia , Serina/genética , Adulto , Idoso , Alelos , Aminoácidos/genética , Artrite Reumatoide/etnologia , Povo Asiático/etnologia , Povo Asiático/genética , Feminino , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Genótipo , Articulação da Mão/patologia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Radiografia , Análise de RegressãoRESUMO
OBJECTIVE: Rheumatoid arthritis (RA) is a chronic disease leading to joint destruction. Although many studies have addressed factors potentially correlated with the speed of joint destruction, less attention has been paid to the distribution of joint destruction in patients with RA. In this study, destruction of the hand bones in patients with RA was classified into 2 anatomic subgroups, the fingers and the non-fingers, with the aim of analyzing which factors are associated with destruction of the finger joints. METHODS: A total of 1,215 Japanese patients with RA were recruited from 2 different populations. The degree of joint destruction was assessed using the total modified Sharp/van der Heijde score (SHS) of radiographic joint damage. The SHS score of joint damage in the finger joints was used as the dependent variable, and the SHS score in the non-finger joints was used as a covariate. Age, sex, disease duration, smoking, C-reactive protein level, treatment for RA, and positivity for and levels of anti-citrullinated protein antibodies and rheumatoid factor (RF) were evaluated as candidate correlates. Overall effect sizes were assessed in a meta-analysis. In addition, associations observed in the Japanese patients were compared to those in a cohort of 157 Dutch RA patients in the BeSt study (a randomized, controlled trial involving 4 different strictly specified treatment strategies for early RA). RESULTS: Not surprisingly, disease duration in Japanese patients with RA was associated with the finger SHS score (P ≤ 0.00037). Both positivity for and levels of RF showed significant associations with the finger SHS score after adjustment for covariates (P = 0.0022 and P = 8.1 × 10(-7) , respectively). These associations were also true in relation to the time-averaged finger SHS score. An association between RF positivity and the finger SHS score was also observed in Dutch patients with RA in the BeSt study (P = 0.049). CONCLUSION: Positivity for and levels of RF are associated with finger joint destruction independent of non-finger joint destruction and other covariates. Our findings suggest that there are different mechanisms of joint destruction operating in the finger joints of patients with RA.
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Artrite Reumatoide/imunologia , Articulações dos Dedos/diagnóstico por imagem , Fator Reumatoide/imunologia , Adulto , Idoso , Antirreumáticos/uso terapêutico , Artrite Reumatoide/diagnóstico por imagem , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/genética , Povo Asiático , Autoanticorpos/imunologia , Estudos de Coortes , Progressão da Doença , Feminino , Articulações do Pé/diagnóstico por imagem , Cadeias HLA-DRB1/genética , Articulação da Mão/diagnóstico por imagem , Humanos , Japão , Modelos Lineares , Masculino , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Países Baixos , Peptídeos Cíclicos/imunologia , Radiografia , Índice de Gravidade de Doença , População BrancaRESUMO
INTRODUCTION: Patients with rheumatoid arthritis (RA) have a higher prevalence of osteoporosis and hip fracture than healthy individuals. Multiple genetic loci for osteoporotic fracture were identified in recent genome-wide association studies. The purpose of this study was to identify genetic variants associated with the occurrence of hip fracture in Japanese patients with RA. METHODS: DNA samples from 2,282 Japanese patients with RA were obtained from the DNA collection of the Institute of Rheumatology Rheumatoid Arthritis cohort (IORRA) study. Six single nucleotide polymorphisms (SNPs) that have been reported to be associated with fractures in recent studies were selected and genotyped. Forty hip fractures were identified with a maximum follow-up of 10 years. The genetic risk for hip fracture was examined using a multivariate Cox proportional hazards regression model. RESULTS: The risk analyses revealed that patients who are homozygous for the major allele of SNP rs6993813, in the OPG locus, have a higher risk for hip fracture (hazard ratio [95% CI] = 2.53 [1.29-4.95], P = 0.0067). No association was found for the other SNPs. CONCLUSIONS: Our results indicate that an OPG allele is associated with increased risk for hip fracture in Japanese patients with RA.
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Artrite Reumatoide/complicações , Fraturas do Quadril/complicações , Fraturas do Quadril/genética , Osteoprotegerina/genética , Polimorfismo de Nucleotídeo Único , Idoso , Povo Asiático/genética , Estudos de Coortes , Feminino , Estudo de Associação Genômica Ampla , Fraturas do Quadril/epidemiologia , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , RiscoRESUMO
INTRODUCTION: Vitamin D deficiency has been reported to be common in patients with rheumatoid arthritis (RA) who have a higher prevalence of osteoporosis and hip fracture than healthy individuals. Genetic variants affecting serum 25-hydroxyvitamin D (25(OH)D) concentration, an indicator of vitamin D status, were recently identified by genome-wide association studies of Caucasian populations. The purpose of this study was to validate the association and to test whether the serum 25(OH)D-linked genetic variants were associated with the occurrence of hip fracture in Japanese RA patients. METHODS: DNA samples of 1,957 Japanese RA patients were obtained from the Institute of Rheumatology, Rheumatoid Arthritis (IORRA) cohort DNA collection. First, five single nucleotide polymorphisms (SNPs) that were reported to be associated with serum 25(OH)D concentration by genome-wide association studies were genotyped. The SNPs that showed a significant association with serum 25(OH)D level in the cross-sectional study were used in the longitudinal analysis of hip fracture risk. The genetic risk for hip fracture was determined by a multivariate Cox proportional hazards model in 1,957 patients with a maximum follow-up of 10 years (median, 8 years). RESULTS: Multivariate linear regression analyses showed that rs2282679 in GC (the gene encoding group-specific component (vitamin D binding protein)) locus was significantly associated with lower serum 25(OH)D concentration (P = 8.1 × 10â»5). A Cox proportional hazards model indicated that rs2282679 in GC was significantly associated with the occurrence of hip fracture in a recessive model (hazard ratio (95% confidence interval) = 2.52 (1.05-6.05), P = 0.039). CONCLUSIONS: A two-staged analysis demonstrated that rs2282679 in GC was associated with serum 25(OH)D concentration and could be a risk factor for hip fracture in Japanese RA patients.
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Artrite Reumatoide/complicações , Artrite Reumatoide/genética , Predisposição Genética para Doença/genética , Fraturas do Quadril/genética , Polimorfismo de Nucleotídeo Único , Proteína de Ligação a Vitamina D/genética , Vitamina D/análogos & derivados , Idoso , Artrite Reumatoide/sangue , Povo Asiático , Estudos de Coortes , Estudos Transversais , Feminino , Seguimentos , Genótipo , Fraturas do Quadril/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Vitamina D/sangue , Vitamina D/genéticaRESUMO
OBJECTIVE: Extensor tendon ruptures in the rheumatoid wrist are usually restored by extensor tendon reconstruction surgery. However, the factors significantly correlated with the outcomes of extensor tendon reconstruction have not been defined. We examined factors showing a statistically significant correlation with postoperative active motion after tendon reconstruction. METHODS: Spontaneous extensor tendon ruptures of 66 wrists in patients (mean age, 52.6 yrs) with rheumatoid arthritis (RA) were evaluated. All patients underwent tendon reconstruction surgery with wrist arthroplasty or arthrodesis. Active ranges of motion of the affected fingers were evaluated at 12 weeks postsurgery. Statistical significance was determined using multiple and single regression analyses. RESULTS: Forty-six (69.6%) wrists had "good" results, while 13 (19.7%) and 7 (10.6%) wrists had "fair" and "poor" results, respectively. In multiple regression analysis, an increased number of ruptured tendons and the age at operation were independent variables significantly correlated with the postoperative active motion of reconstructed tendons (p = 0.009). Single regression analysis also showed a significant association between the number of ruptured tendons and surgical delay (p = 0.02). CONCLUSION: The number of ruptured extensor tendons was significantly correlated with the results of tendon reconstruction, and the number of ruptured tendons was significantly correlated with preoperative surgical delay. Our results indicate that, in patients presenting with possible finger extensor tendon rupture, rheumatologists should consult with hand surgeons promptly to preserve hand function.