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1.
Appl Radiat Isot ; 209: 111320, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38677203

RESUMO

Cd-content and temperature dependences of hyperfine fields in CdxFe3-xO4 (0 ≤ x ≤ 0.5) were investigated by means of time-differential perturbed angular correlation spectroscopy with the 111Cd(←111In) probe. It was found that Cd2+ ions selectively occupy the tetrahedral A site in the spinel structure in all the range of the present Cd content x. The magnetic transition temperature TC becomes lower with increasing x due to the interference of the long-range ordering of Fe spins as a result of expansion of the lattice constants by Cd doping. The measurement of room-temperature hyperfine fields at different x shows that the supertransferred magnetic hyperfine field (SMHF) at the probe decreases as x increases in the range of 0 ≤ x ≤ 0.5. Isothermal measurements at 15 K revealed a contrastive phenomenon for the Cd contents up to x = 0.4: the SMHF becomes great with increasing x; however, this increasing trend of the SMHF turns to reduction at x = 0.46. These observations can be explained based on the effect of Cd doping on the antiferromagnetic coupling between Fe ions in the A and B sites.

2.
Phys Rev Lett ; 130(13): 132502, 2023 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-37067317

RESUMO

The new isotope ^{241}U was synthesized and systematic atomic mass measurements of nineteen neutron-rich Pa-Pu isotopes were performed in the multinucleon transfer reactions of the ^{238}U+^{198}Pt system at the KISS facility. The present experimental results demonstrate the crucial role of the multinucleon transfer reactions for accessing unexplored neutron-rich actinide isotopes toward the N=152 shell gap in this region of nuclides.

3.
J Low Temp Phys ; 209(5-6): 766-778, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36467121

RESUMO

We present a feasibility study for the high-redshift galaxy part of the Science Verification Campaign with the 220-440 GHz deshima 2.0 integrated superconducting spectrometer on the ASTE telescope. The first version of the deshima 2.0 chip has been recently manufactured and tested in the lab. Based on these realistic performance measurements, we evaluate potential target samples and prospects for detecting the [CII] and CO emission lines. The planned observations comprise two distinct, but complementary objectives: (1) acquiring spectroscopic redshifts for dusty galaxies selected in far-infrared/mm-wave surveys; (2) multi-line observations to infer physical conditions in dusty galaxies.

4.
Bone Joint J ; 101-B(4): 443-446, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30929487

RESUMO

AIMS: Total ankle arthroplasty (TAA) has become the most reliable surgical solution for patients with end-stage arthritis of the ankle. Aseptic loosening of the talar component is the most common complication. A custom-made artificial talus can be used as the talar component in a combined TAA for patients with poor bone stock of the talus. The purpose of this study was to investigate the functional and clinical outcomes of combined TAA. PATIENTS AND METHODS: Ten patients (two men, eight women; ten ankles) treated using a combined TAA between 2009 and 2013 were matched for age, gender, and length of follow-up with 12 patients (one man, 11 women; 12 ankles) who underwent a standard TAA. All had end-stage arthritis of the ankle. The combined TAA features a tibial component of the TNK ankle (Kyocera, Kyoto, Japan) and an alumina ceramic artificial talus (Kyocera), designed using individualized CT data. The mean age at the time of surgery in the combined TAA and standard TAA groups was 71 years (61 to 82) and 75 years (62 to 82), respectively. The mean follow-up was 58 months (43 to 81) and 64 months (48 to 88), respectively. The outcome was assessed using the Japanese Society for Surgery of the Foot (JSSF) ankle-hindfoot scale, the Ankle Osteoarthritis Scale (AOS), and the Self-Administered Foot Evaluation Questionnaire (SAFE-Q). RESULTS: The mean preoperative JSSF score of the combined TAA and standard TAA groups was 44 (sd 11) and 49 (sd 10), respectively. The mean postoperative JSSF scores were 89 (sd 6.1) and 72 (sd 15), respectively. The mean postoperative JSSF score of the combined TAA group was significantly higher (p = 0.0034). The mean preoperative AOS scores for pain and function in the combined TAA and standard TAA groups were 5.8 (sd 3.3) and 5.5 (sd 3.1), and 8.6 (sd 1.3), and 7.1 (sd 2.9), respectively. The mean postoperative AOS scores of pain and function were 2.5 (sd 2.5) and 2.2 (sd 1.9), and 2.5 (sd 3.3) and 3.4 (sd 2.9), respectively. There were no significant differences between the two groups in terms of postoperative AOS scores. The mean postoperative SAFE-Q scores were: for pain, 76 (sd 23) and 70 (sd 23); for physical function, 66 (sd 25) and 55 (sd 27); for social function, 73 (sd 35) and 62 (sd 34); for shoe-related, 73 (sd 19) and 65 (sd 26); and for general health, 78 (sd 28) and 67 (sd 29), respectively. There were no significant differences between the two groups in terms of postoperative SAFE-Q scores. CONCLUSION: Combined TAA resulted in better clinical results than standard TAA. Cite this article: Bone Joint J 2019;101-B:443-446.


Assuntos
Articulação do Tornozelo/cirurgia , Artroplastia de Substituição do Tornozelo/métodos , Prótese Articular , Osteoartrite/cirurgia , Tálus/cirurgia , Idoso , Articulação do Tornozelo/diagnóstico por imagem , Articulação do Tornozelo/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/diagnóstico , Osteoartrite/fisiopatologia , Desenho de Prótese , Radiografia , Amplitude de Movimento Articular , Estudos Retrospectivos , Tálus/diagnóstico por imagem , Resultado do Tratamento
5.
Transplant Proc ; 50(8): 2388-2391, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30316363

RESUMO

OBJECTIVES: We investigated the correlation between class II HLA epitope mismatch and antibody-mediated rejection (AMR) episodes in kidney transplant recipients. In patients with AMR, epitope mismatch was also examined for each class II HLA mismatch to determine development of de novo donor-specific antibodies (DSAs). METHODS: We conducted a retrospective study of 167 kidney recipients. The numbers of eplet mismatches were compared between those with (n = 12) and without (n = 155) AMR, and the numbers of eplet mismatches for each type of mismatch in class II HLA among the AMR patients was also compared. RESULTS: Twelve AMR episodes were diagnosed. The total number of eplet mismatches in AMR patients with either HLA-DR or HLA-DQ was greater than those in non-AMR patients (P = .0085 and P = .0041, respectively), though the incidence of HLA class II (DRB1 + DQB) mismatch was not significantly different between the groups (P = .095). The rate of non-AMR status in patients with ≥15 was lower than those with <15 HLA class II (DR or DQ) eplet mismatches (P = .0299 and P = .0128, respectively). Twelve AMR patients had 30 HLA-DRB1/3/4/5 and 32 HLA-DQA/B mismatches. In both HLA-DR and -DQ, de novo DSAs developed against HLAs in association with a greater number of eplet mismatches (P = .0046 and P = .0044, respectively). CONCLUSION: Class II HLA eplet mismatch is a risk factor for de novo DSA and AMR in kidney transplantation recipients. Furthermore, the number of HLA class II eplet mismatches has greater significance as a risk factor than the number of conventional HLA class II mismatches.


Assuntos
Rejeição de Enxerto/imunologia , Antígenos de Histocompatibilidade Classe II/imunologia , Transplante de Rim , Adulto , Anticorpos/imunologia , Epitopos/imunologia , Feminino , Teste de Histocompatibilidade , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Doadores de Tecidos
6.
Clin Genet ; 92(6): 659-663, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28422281

RESUMO

The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN-related genes was performed using a next-generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in 5 patients. This mutation was homozygous in 4 cases and of a compound heterozygous genotype in 1 case. Geographic and haplotype analysis of all 5 patients suggested a founder event. In addition, a novel heterozygous nonsense variant, c.2615C>G (p.Ser872*), was identified. All the 5 patients presented with severe sensory and autonomic dysfunctions at birth or during adolescence. In 2 patients, an uncommon phenotype of acute pathological pain presented at ~50 years of age. Here, we present the first founder mutation of WNK1/HSN2, in addition to French Canadian, which accounts for ~15.2% of Japanese patients with HSAN in our cohort. We have also reviewed all previously described mutations in WNK1/HSN2 and reconciled their nomenclature strategy on the basis of the current longest transcript.


Assuntos
Códon sem Sentido , Efeito Fundador , Mutação da Fase de Leitura , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Proteína Quinase 1 Deficiente de Lisina WNK/genética , Adulto , Idade de Início , Idoso , Povo Asiático , Estudos de Coortes , Feminino , Expressão Gênica , Haplótipos , Neuropatias Hereditárias Sensoriais e Autônomas/diagnóstico , Neuropatias Hereditárias Sensoriais e Autônomas/etnologia , Neuropatias Hereditárias Sensoriais e Autônomas/fisiopatologia , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade
7.
Integr Mol Med ; 3(3): 703-715, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35558521

RESUMO

We previously showed that TSC1 (a combination of transferrin and IGF-1) is a potent inductor of myelinogenesis in myelin deficient rats and in demyelinated adult mice. More recently, we demonstrated that regeneration of oligodendrocyte progenitors and myelin are possible with a single dose of TSC1 in a mouse model of Premature birth. Here, using the same mouse model of perinatal white matter damage due to glutamate excitotoxicity (GME), we tested the hypothesis that regeneration of endogenous nestin-expressing neural progenitors improves the outcome of prematurity. Treatments: N-methyl-D-aspartate (NMDA), saline, NMDA+TSC1 together or NMDA followed byTSC1 3 days later, were stereotaxically delivered into the corpus callosum of P4 mouse pups. Fluorescence analysis showed an intense enrichment of nestin-expressing cells in groups injected with NMDA+TSC1 from which many were generated by proliferation. Moreover, when TSC1 was injected three days after the primary insult it was still able to reduce ventricular enlargement and extensively rescue nestin-expressing progenitors. Cells co-expressing the proliferation marker Ki67, CNPase and faint nestin label were more abundant in groups injected with MNDA+TSC1 at 35 days after injection. Stereological analysis showed that the number of nestin-expressing cells in the sub-ventricular zone correlated inversely with the volume of the ventricle. A delayed administration of TSC1 after excitotoxicity reduced ventriculomegaly but not as much as, when NMDA and TSC1 were injected simultaneously. Thus, the earliest TSC1 was administered, the more tissue was rescued as shown by reduced ventriculomegaly. Astrocytes responded to GME by upregulating the expression of estrogen receptor and this expression was attenuated in the presence of TSC1 suggesting a decreased inflammation and a lesser need for estrogen-mediated central nervous system (CNS) neuroprotection.

8.
Acta Neurol Scand ; 133(5): 398-402, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26248690

RESUMO

BACKGROUND: Paraneoplastic neurological syndromes (PNS) are rare remote effect of cancer. The antibodies and tumors associated with PNS have been well described, but there are still many clinically suspected cases in which no tumor or antibody can be identified. This is the first report of PNS showing hot cross-bun sign and caused by exceptionally rare underlying malignancy, such as burned-out testicular tumor. CASE PRESENTATION: A 42-year-old man presented subacute progression of hearing loss and cerebellar ataxia. Cerebrospinal fluid showed continuous inflammation and magnetic resonance imaging (MRI) revealed cerebellar atrophy and hot cross-bun sign. Resection of tumors improved both laboratory findings and neurological signs and their pathology was seminoma. CONCLUSION: Seminoma can cause PNS showing 8th cranial nerve palsy, cerebellar, and brainstem atrophy with hot cross-bun sign on MRI study. Extensive screening for onconeural antibodies was negative and thereby suggested that unknown antibodies worked for both antitumor immunity and induction of PNS.


Assuntos
Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico , Seminoma/complicações , Neoplasias Testiculares/complicações , Adulto , Humanos , Masculino , Síndromes Paraneoplásicas do Sistema Nervoso/etiologia
9.
Diabetes Obes Metab ; 17(7): 665-74, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25772548

RESUMO

AIMS: To evaluate the safety and efficacy of empagliflozin for 52 weeks as add-on to one other oral antidiabetes therapy in Japanese patients with type 2 diabetes mellitus (T2DM). METHODS: Patients on biguanide (n = 133), thiazolidinedione (n = 273), α-glucosidase inhibitor (n = 139), dipeptidyl-peptidase-4 inhibitor (n = 139) or glinide (n = 140) were randomized 1 : 1 to receive empagliflozin 10 or 25 mg double-blind as add-on therapy for 52 weeks. Patients on sulphonylurea (SU; n = 336) were randomized 2 : 2 : 1 to receive empagliflozin 10 or 25 mg double-blind or open-label metformin as add-on therapy for 52 weeks. The primary objective was to evaluate safety. Change from baseline in glycated haemoglobin (HbA1c) at week 52 was a secondary endpoint. RESULTS: Adverse events (AEs) were reported in 67.6-84.6% of patients receiving empagliflozin. Confirmed hypoglycaemic AEs (plasma glucose ≤70 mg/dl and/or requiring assistance) were reported in 4.4 and 6.6%, respectively, of patients receiving empagliflozin 10 and 25 mg as add-on to SU and in 0.0 to 2.9%, respectively, of patients receiving empagliflozin 10 and 25 mg as add-on to other therapies. Baseline mean ± standard deviation HbA1c ranged from 7.51 ± 0.73 to 8.06 ± 0.76% across background therapy groups. At week 52, adjusted mean ± standard error changes from baseline in HbA1c ranged from -0.77 ± 0.06 to -1.00 ± 0.06% in patients receiving empagliflozin. CONCLUSIONS: In Japanese patients with T2DM, empagliflozin 10 and 25 mg as add-on to one other oral antidiabetes therapy for 52 weeks were well tolerated and were associated with clinically meaningful reductions in HbA1c.


Assuntos
Compostos Benzidrílicos/administração & dosagem , Diabetes Mellitus Tipo 2/tratamento farmacológico , Glucosídeos/administração & dosagem , Hipoglicemiantes/administração & dosagem , Adulto , Idoso , Compostos Benzidrílicos/efeitos adversos , Biguanidas/administração & dosagem , Glicemia/análise , Diabetes Mellitus Tipo 2/sangue , Inibidores da Dipeptidil Peptidase IV/administração & dosagem , Método Duplo-Cego , Quimioterapia Combinada , Feminino , Glucosídeos/efeitos adversos , Hemoglobinas Glicadas/análise , Inibidores de Glicosídeo Hidrolases/administração & dosagem , Humanos , Hipoglicemia/induzido quimicamente , Hipoglicemia/epidemiologia , Hipoglicemiantes/efeitos adversos , Japão , Masculino , Metformina/administração & dosagem , Pessoa de Meia-Idade , Compostos de Sulfonilureia/administração & dosagem , Tiazolidinedionas/administração & dosagem , Resultado do Tratamento
10.
Osteoporos Int ; 26(3): 961-8, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25294026

RESUMO

UNLABELLED: Despite improvements in rheumatoid arthritis disease activity of in the past 10 years, the incidence of self-reported non-vertebral fractures did not decrease in our cohort of 9,987 patients. This study may indicate that osteoporosis treatment and non-vertebral fracture prevention remain important regardless of the rheumatoid arthritis disease activity. INTRODUCTION: Although rheumatoid arthritis (RA) is a risk factor for osteoporosis and fractures, few studies have described the association between disease activity and the fracture incidence in patients with RA. This study aimed to investigate changes in the non-vertebral fracture incidence between 2001 and 2010 in our Institute of Rheumatology Rheumatoid Arthritis (IORRA) cohort. METHODS: The IORRA is a prospective observational cohort study of Japanese RA patients. A total of 9,987 patients with RA were enrolled in this cohort from 2000 to 2010. The clinical parameter and non-vertebral fracture occurrence data were collected biannually through self-reported questionnaires. Incidences of self-reported non-vertebral fractures were also analyzed via standardization according to gender, age, and disease activity during each 2-year period. RESULTS: From 2001 to 2010, the percentage of patients with 28-joint disease activity score remission increased from 7.8 to 39.7%, prednisolone intake decreased from 51.4 to 41.3%, and bisphosphonate intake increased from 5.0 to 23.4%. The non-vertebral fracture incidence rates were 24.6/1,000 person-years in 2001 and 35.5/1,000 person-years in 2010, with no apparent change even after standardization. The overall non-vertebral fracture incidence was significantly higher in the autumn/winter than in the spring/summer (p = 0.02). CONCLUSION: Despite improvements in disease activity and functional disability, the non-vertebral fracture incidence exhibited no apparent change between 2001 and 2010 in our patients with RA. Osteoporosis treatment and non-vertebral fracture prevention remain important regardless of the disease control in patients with RA.


Assuntos
Artrite Reumatoide/complicações , Fraturas por Osteoporose/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/epidemiologia , Conservadores da Densidade Óssea/uso terapêutico , Feminino , Glucocorticoides/uso terapêutico , Humanos , Incidência , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Osteoporose/tratamento farmacológico , Osteoporose/etiologia , Fraturas por Osteoporose/epidemiologia , Fraturas por Osteoporose/prevenção & controle , Estudos Prospectivos , Estações do Ano , Autorrelato , Índice de Gravidade de Doença
11.
Rural Remote Health ; 14(2): 2728, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24965671

RESUMO

INTRODUCTION: Efforts are needed to improve palliative care in rural communities, given the unique characteristics and inherent challenges with respect to working within the physical aspects of residential settings. Nurses who work in rural communities play a key role in the delivery of palliative care services. Hence, the purpose of this study was to explore nurses' experiences of providing palliative care in rural communities, with a particular focus on the impact of the physical residential setting. METHODS: This study was grounded in a qualitative approach utilizing an exploratory descriptive design. Individual telephone interviews were conducted with 21 community nurses. Data were analyzed by thematic content analysis. RESULTS: Nurses described the characteristics of working in a rural community and how it influences their perception of their role, highlighting the strong sense of community that exists but how system changes over the past decade have changed the way they provide care. They also described the key role that they play, which was often termed a 'jack of all trades', but focused on providing emotional, physical, and spiritual care while trying to manage many challenges related to transitioning and working with other healthcare providers. Finally, nurses described how the challenges of working within the physical constraints of a rural residential setting impeded their care provision to clients who are dying in the community, specifically related to the long distances that they travel while dealing with bad weather. CONCLUSIONS: These study findings contribute to our understanding of the experiences of nurses working in rural communities in terms of the provision of palliative care and the influence of the physical residential setting that surrounds them. These findings are important since nurses play a major role in caring for community-dwelling clients who are dying, but they are confronted with many obstacles. As such, these results may help inform future decisions about how to best improve access to important services and ways to support them while providing palliative care to rural individuals.


Assuntos
Enfermeiras e Enfermeiros/psicologia , Cuidados Paliativos/organização & administração , Características de Residência/estatística & dados numéricos , Serviços de Saúde Rural/organização & administração , Adolescente , Adulto , Idoso , Comportamento Cooperativo , Feminino , Humanos , Relações Interprofissionais , Satisfação no Emprego , Pessoa de Meia-Idade , Papel do Profissional de Enfermagem , Adulto Jovem
12.
Scand J Rheumatol ; 42(6): 445-50, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23724971

RESUMO

OBJECTIVE: To investigate the effectiveness of influenza vaccination in patients with rheumatoid arthritis (RA) from a large practice-based cohort. METHOD: Patients with RA enrolled in the Institute of Rheumatology, Rheumatoid Arthritis (IORRA) cohort completed self-administered questionnaires as part of the April IORRA surveys of 2001, 2002, 2003, and 2007, which included their influenza vaccination status and occurrence of an actual influenza attack. Vaccine coverage rate and attack rates were calculated in each season. Relative risks (RRs) of vaccination for an actual influenza attack were evaluated and risk factors for influenza infection were determined by multiple logistic regression analysis. RESULTS: Data from 3529, 4518, 4816, and 4872 patients in the 2000/01, 2001/02, 2002/03, and 2006/07 seasons, respectively, were analysed. Coverage rates were increased from 12.2% in the 2000/01 season to 38.7% in the 2006/07 season. For each season, the attack rates in vaccinated patients trended lower than the rates in unvaccinated patients but the differences were not significant; however, by combining these four seasonal results, the attack rate was significantly lower for vaccinated patients [RR 0.83, 95% confidence interval (CI) 0.71-0.95, p < 0.01]. Male gender [odds ratio (OR) 1.48, 95% CI 1.25-1.76, p < 0.001] was associated with increased risk whereas vaccination was associated with reduced risk for influenza attack (OR 0.76, 95% CI 0.63-0.91, p < 0.01). There were no associations between influenza attacks and RA disease activity, treatment with methotrexate (MTX) or corticosteroids. CONCLUSION: Influenza vaccination was effective in patients with RA regardless of disease activity or treatment.


Assuntos
Artrite Reumatoide/epidemiologia , Vacinas contra Influenza/uso terapêutico , Influenza Humana/epidemiologia , Influenza Humana/prevenção & controle , Estações do Ano , Corticosteroides/uso terapêutico , Idoso , Artrite Reumatoide/tratamento farmacológico , Estudos de Coortes , Feminino , Humanos , Japão/epidemiologia , Masculino , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Estudos Prospectivos , Análise de Regressão , Fatores de Risco , Inquéritos e Questionários , Resultado do Tratamento
13.
Br J Cancer ; 108(3): 629-37, 2013 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-23322199

RESUMO

BACKGROUND: We searched for a viral aetiology for non-small cell lung cancer (NSCLC), focusing on Merkel cell polyomavirus (MCPyV). METHODS: We analysed 112 Japanese cases of NSCLC for the presence of the MCPyV genome and the expressions of RNA transcripts and MCPyV-encoded antigen. We also conducted the first analysis of the molecular features of MCPyV in lung cancers. RESULTS: PCR revealed that 9 out of 32 squamous cell carcinomas (SCCs), 9 out of 45 adenocarcinomas (ACs), 1 out of 32 large-cell carcinomas, and 1 out of 3 pleomorphic carcinomas were positive for MCPyV DNA. Some MCPyV DNA-positive cancers expressed large T antigen (LT) RNA transcripts. Immunohistochemistry showed that MCPyV LT antigen was expressed in the tumour cells. The viral integration sites were identified in one SCC and one AC. One had both episomal and integrated/truncated forms. The other carried an integrated MCPyV genome with frameshift mutations in the LT gene. CONCLUSION: We have demonstrated the expression of a viral oncoprotein, the presence of integrated MCPyV, and a truncated LT gene with a preserved retinoblastoma tumour-suppressor protein-binding domain in NSCLCs. Although the viral prevalence was low, the tumour-specific molecular signatures support the possibility that MCPyV is partly associated with the pathogenesis of NSCLC in a subset of patients.


Assuntos
Antígenos Virais de Tumores/genética , Carcinoma Pulmonar de Células não Pequenas/etiologia , Neoplasias Pulmonares/etiologia , Infecções por Polyomavirus/complicações , Polyomavirus/genética , Infecções Tumorais por Vírus/complicações , Adenocarcinoma/diagnóstico , Adenocarcinoma/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Aminoácidos , Carcinoma de Células Grandes/diagnóstico , Carcinoma de Células Grandes/etiologia , Carcinoma de Célula de Merkel/complicações , Carcinoma de Célula de Merkel/genética , Carcinoma de Célula de Merkel/virologia , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/etiologia , DNA Viral/genética , Feminino , Seguimentos , Humanos , Técnicas Imunoenzimáticas , Neoplasias Pulmonares/diagnóstico , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Infecções por Polyomavirus/genética , Infecções por Polyomavirus/virologia , Prognóstico , Homologia de Sequência de Aminoácidos , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/virologia , Infecções Tumorais por Vírus/genética , Infecções Tumorais por Vírus/virologia
14.
Osteoporos Int ; 24(4): 1257-65, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22801953

RESUMO

UNLABELLED: Risk factors associated with the occurrence of hip fracture in Japanese patients with rheumatoid arthritis (RA) were evaluated in a prospective, observational cohort study. Physical disability, advanced age, history of total knee replacement (TKR), and low body mass index (BMI) appear to be associated with the occurrence of hip fracture. INTRODUCTION: This study seeks to evaluate the association between potential risk factors and the occurrence of hip fractures in Japanese RA patients. METHODS: A total of 9,720 patients (82.1% female; mean age, 55.7 years) with RA were enrolled in a prospective observational study from 2000 to 2010. Self-reported hip fractures were verified using patient medical records. Cox proportional hazards models were used to analyze independent contributions of various risk factors to hip fracture occurrence. RESULTS: During a mean follow-up of 5.2 years, 152 patients reported 152 hip fractures. Among these patients, 97 hip fractures in 97 patients (15 males, 82 females) were verified with medical records. Japanese version of the Health Assessment Questionnaire (J-HAQ) disability score [per 1 score, hazard ratio (HR), 2.64; 95% confidence interval (CI), 1.94-3.58], age (per 10 years; HR, 1.53; 95% CI, 1.25-1.87), history of TKR (HR, 3.75; 95% CI, 1.57-8.96), and BMI (per 1 kg/m2, HR, 0.92; 95% CI, 0.86-0.99) were significantly associated with hip fractures. Among the scores on the eight domains of the J-HAQ, J-HAQ (arising) (HR, 1.74; 95% CI, 1.28-2.36) and J-HAQ (hygiene) (HR, 1.58; 95% CI, 1.11-2.24) were significantly correlated with the occurrence of hip fracture. CONCLUSIONS: High J-HAQ disability score, advanced age, history of TKR, and low BMI appear to be associated with the occurrence of hip fractures in Japanese RA patients. Among the eight domains of the J-HAQ, arising and hygiene disabilities appear to be correlated with the occurrence of hip fractures in this patient population.


Assuntos
Artrite Reumatoide/complicações , Fraturas do Quadril/etiologia , Atividades Cotidianas , Fatores Etários , Idoso , Artrite Reumatoide/epidemiologia , Artroplastia do Joelho/efeitos adversos , Índice de Massa Corporal , Avaliação da Deficiência , Feminino , Fraturas do Quadril/epidemiologia , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco
15.
J Bone Joint Surg Br ; 94(11): 1529-33, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23109634

RESUMO

The purpose of this study was to evaluate the clinical results of a newly designed prosthesis to replace the body of the talus in patients with aseptic necrosis. Between 1999 and 2006, 22 tali in 22 patients were replaced with a ceramic prosthesis. A total of eight patients were treated with the first-generation prosthesis, incorporating a peg to fix into the retained neck and head of the talus, and the remaining 14 were treated with the second-generation prosthesis, which does not have the peg. The clinical results were assessed by the American Orthopaedic Foot and Ankle Society ankle/hindfoot scale. The mean follow-up was 98 months (18 to 174). The clinical results of the first-generation prostheses were excellent in three patients, good in one, fair in three and poor in one. There were, however, radiological signs of loosening, prompting a change in design. The clinical results of the second-generation prostheses were excellent in three patients, good in five, fair in four and poor in two, with more favourable radiological appearances. Revision was required using a total talar implant in four patients, two in each group. Although the second-generation prosthesis produced better results, we cannot recommend the use of a talar body prosthesis. We now recommend the use of a total talar implant in these patients.


Assuntos
Articulação do Tornozelo/cirurgia , Cerâmica , Osteonecrose/cirurgia , Desenho de Prótese , Tálus/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Articulação do Tornozelo/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tálus/patologia , Resultado do Tratamento
16.
Nucleosides Nucleotides Nucleic Acids ; 30(12): 1248-55, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22132982

RESUMO

Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout (Kelley-Seegmiller syndrome). The marked heterogeneity of HPRT deficiency is well known, with more than 300 mutations at the HPRT gene locus having been reported (deletions, insertions, duplications, abnormal splicing, and point mutations at different sites of the coding region from exons 1 to 9). We have identified mutations in Asian families with patients manifesting different clinical phenotypes, including rare cases of female subjects, by analyzing all nine exons of the HPRT gene (HPRT1) from genomic DNA and reverse-transcribed mRNA using the polymerase chain reaction technique coupled with direct sequencing. We developed suitable methods to detect the mutations identified from respective families with HPRT deficiency. Then, prenatal genetic diagnoses in HPRT-deficient families were carried out using both mRNA and genomic DNA from chorionic villi or amniotic fluid cells. As shown here in the heterogeneity of HPRT mutations, the spectrum of 70 mutations identified in the Asian population fits the four main conclusions that emerged previously from worldwide analysis.


Assuntos
Povo Asiático/genética , Hipoxantina Fosforribosiltransferase/genética , Mutação/genética , Feminino , Deleção de Genes , Genética Populacional , Humanos , Mutagênese Insercional/genética , Fenótipo , Mutação Puntual/genética
17.
Nucleosides Nucleotides Nucleic Acids ; 30(12): 1266-71, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22132985

RESUMO

Lesch-Nyhan syndrome is caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT) encoded by HPRT1. About 20% of patients have a deletion of HPRT1 and large deletions of HPRT1 are not always fully characterized at the molecular level. Here, we report on a case of Lesch-Nyhan syndrome with a 33-kb deletion involving exon 1 of HPRT1. This novel mutation is caused by a nonhomologous recombination between different classes of interspersed repetitive DNA.


Assuntos
Deleção de Genes , Hipoxantina Fosforribosiltransferase/genética , Síndrome de Lesch-Nyhan/enzimologia , Síndrome de Lesch-Nyhan/genética , Adolescente , Sequência de Bases , Pontos de Quebra do Cromossomo , Humanos , Masculino , Dados de Sequência Molecular
18.
Radiat Prot Dosimetry ; 146(1-3): 202-5, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21498852

RESUMO

The conversion coefficients, H'(d,α)/Φ, for monoenergetic positrons and positron-emitting radionuclides were calculated by using the user code UCICRPM of the Monte Carlo code EGS5 to estimate the radiation dose for medical staff involved in positron emission tomography examinations. From these coefficients, the dose equivalent rates per unit activity at 0.07 and 10 mm depths in a soft tissue for a straight-line source of 2-deoxy-2-[(18)F]fluoro-d-glucose ((18)F-FDG) were calculated by using the developed user code UCF18DOSE. The dose equivalent rates per unit activity at 0.07 and 10 mm depths were measured by using a personal dosemeter (DOSE(3)) under the same conditions as those considered in the calculation. The calculated dose equivalent rates per unit activity at 0.07 and 10 mm depths were 0.116 and 0.0352 pSv min(-1) Bq(-1), respectively, at 20 cm from the (18)F-FDG injection tube.


Assuntos
Fluordesoxiglucose F18 , Método de Monte Carlo , Tomografia por Emissão de Pósitrons , Proteção Radiológica , Compostos Radiofarmacêuticos , Simulação por Computador , Fluordesoxiglucose F18/farmacocinética , Humanos , Doses de Radiação , Compostos Radiofarmacêuticos/farmacocinética , Distribuição Tecidual
20.
Scand J Rheumatol ; 39(5): 360-7, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20476859

RESUMO

OBJECTIVES: To investigate mortality, cause of death, and risk factors related to mortality in Japanese patients with rheumatoid arthritis (RA). METHODS: The IORRA cohort is a large observational cohort established in 2000 at the Institute of Rheumatology, Tokyo Women's Medical University. Essentially, all RA patients were registered and clinical parameters were assessed biannually. For patients who failed to participate in subsequent surveys, simple queries were mailed to confirm survival. Standardized mortality ratios (SMRs) were calculated and mortality risk factors were analysed using a Cox proportional hazard model. RESULTS: We analysed 7926 patients (81.9% females; mean age 56.3 ± 13.1 years; mean disease duration 8.5 ± 8.3 years) with RA who enrolled in IORRA from October 2000 to April 2007. During the observational period (35 443.0 person-years), 289 deaths were reported. Major causes of death included malignancies (24.2%), respiratory involvement (24.2%) including pneumonia (12.1%) and interstitial lung disease (ILD) (11.1%), cerebrovascular disease (8.0%), and myocardial infarction (7.6%). As death was not confirmed in all patients, the SMR was deduced to be between 1.46 [95% confidence interval (CI) 1.32-1.60] and 1.90 (95% CI 1.75-2.07) for all patients, between 1.45 (95% CI 1.22-1.70) and 1.70 (95% CI 1.45-1.97) for men, and between 1.46 (95% CI, 1.29-1.65) and 2.02 (95% CI 1.82- 2.24) for women. Factors associated with increased mortality included male gender, older age, worse physical disability, positive rheumatoid factor (RF), corticosteroid use, and presence of ILD. CONCLUSION: The mortality of Japanese RA patients is comparable to that in previous reports from western countries, even though the causes of death were significantly different.


Assuntos
Artrite Reumatoide/epidemiologia , Artrite Reumatoide/mortalidade , Adulto , Idoso , Causas de Morte , Transtornos Cerebrovasculares/mortalidade , Estudos de Coortes , Feminino , Seguimentos , Humanos , Japão/epidemiologia , Pneumopatias/mortalidade , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/mortalidade , Neoplasias/mortalidade , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco
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