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1.
Osteoporos Int ; 34(5): 1005-1009, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36622389

RESUMO

Hajdu-Cheney syndrome (HCS) is an inherited skeletal disorder caused by mutations in the Notch homolog protein 2 gene (NOTCH2). Treatment of this rare disease is challenging because there are no established guidelines worldwide. Previous case reports using bisphosphonates, denosumab, or teriparatide suggested that curative treatment for HCS did not exist yet in terms of preventing the disease progression. Therefore, the efficacy of romosozumab for osteoporosis in patients with HCS needs to be evaluated. Herein, we report the case of a 43-year-old woman who had progressive acro-osteolysis and repeated fractures since the age of 29 years. Next-generation sequencing confirmed HCS with a mutation at nucleotide 6758G>A, leading to Trp2253Ter replacement in NOTCH2. Romosozumab treatment was initiated because she had already received bisphosphonate for more than 10 years at other hospitals. After 1 year of romosozumab treatment, the bone mineral density (BMD) increased by 10.2%, 6.3%, and 1.3%, with Z scores of -2.9, -1.6, and -1.2 at the lumbar spine, femoral neck, and total hip, respectively. In addition, C-telopeptide was suppressed by 26.4% (0.121 to 0.089 ng/mL), and procollagen type I N-terminal propeptide increased by 18.7% (25.2 to 29.9 ng/mL). This was the first report of romosozumab treatment in patient with osteoporosis and HCS in Korea. One year of romosozumab treatment provided substantial gains in BMD with maintaining the last acro-osteolytic status without deteriorating, representing a possible treatment option for HCS.


Assuntos
Conservadores da Densidade Óssea , Síndrome de Hajdu-Cheney , Osteoporose , Feminino , Humanos , Adulto , Síndrome de Hajdu-Cheney/complicações , Síndrome de Hajdu-Cheney/tratamento farmacológico , Síndrome de Hajdu-Cheney/genética , Osteoporose/etiologia , Anticorpos Monoclonais/uso terapêutico , Densidade Óssea , Difosfonatos , Conservadores da Densidade Óssea/uso terapêutico
2.
Public Health ; 221: 208-215, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37490839

RESUMO

OBJECTIVES: North Korean Refugees (NKRs) undergo defection, and this has been shown to impact their current health status in South Korea. However, little is understood about how the defection process is related to metabolic syndrome (MetS). This study regarded the defection process to be a quasi-measurement of traumatic experience and investigated whether defection was a risk factor for MetS among NKRs living in South Korea. STUDY DESIGN: This cross-sectional study obtained data from the Korea University Anam Hospital in Seoul. NKRs (N = 847) voluntarily completed questionnaires and underwent at least one medical examination between October 2008 and July 2021. METHODS: Multivariable logistic regression models were used to evaluate whether the number of countries transited by NKRs was associated with MetS by controlling for covariates. RESULTS: The prevalence of MetS among male and female NKRs in South Korea was 12.3% and 13.3%, respectively. The highest prevalence of MetS (33.4%) was among NKRs who had transited two countries. The number of months in transit countries (mean: 49.9 ± 51.7) and period of residence in South Korea (mean: 40.9 ± 40.9 months) were also considered. NKRs who transited three countries had a higher probability of MetS (odds ratio [OR] 2.660, 95% confidence interval [CI] 1.161-6.097) than those who travelled directly to South Korea. NKRs who transited three countries and had only resided in South Korea for a short period had a higher probability of MetS (OR 3.424, 95% CI 1.149-10.208) than those who have lived in South Korea for a longer period. CONCLUSIONS: Considering the social vulnerability of NKRs and consequential health problems, there is an urgent need for appropriate support from the government and society.


Assuntos
Síndrome Metabólica , Refugiados , Humanos , Masculino , Feminino , Síndrome Metabólica/epidemiologia , República Democrática Popular da Coreia/epidemiologia , Estudos Transversais , República da Coreia/epidemiologia , Liberdade
3.
J Synchrotron Radiat ; 28(Pt 5): 1417-1422, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34475289

RESUMO

A description of the upgraded bunch-by-bunch feedback system for time-resolved experiments at Pohang Light Source II (PLS-II) is provided. The bunch-by-bunch feedback system has been upgraded to increase the single-bunch current in the hybrid fill pattern of the PLS-II facility. The project is part of the SPring-8 and PLS-II collaboration. The main features of the upgrade are to employ a single 500 MHz analog-to-digital converter (ADC) instead of the previous four 125 MHz interleaved ADCs for 500 MHz rate, to replace a single-loop two-dimensional feedback with two independent one-dimensional feedback loops, to implement the tune measurement function with a single bunch, and mainly to implement single-bunch and stretcher control. The realization of a 400 mA hybrid fill pattern including a 10 mA single bunch demonstrates the precision of the upgraded bunch-by-bunch feedback system.

4.
Colorectal Dis ; 22(12): 2008-2017, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32866340

RESUMO

AIM: The main aim of this study was to compare the long-term outcome of a conventional colorectal endoscopic submucosal dissection (ESD) in which submucosal dissection was continued throughout until the completion of resection (ESD-T) to hybrid endoscopic submucosal dissection (ESD-H) in the colorectum. METHOD: Medical records of 836 colorectal neoplasia patients treated by ESD-T or ESD-H were reviewed. ESD-H was defined as colorectal ESD with additional snaring in the final stage of the procedure. Primary outcomes were the overall and metastatic recurrence rates. Secondary outcomes were short-term outcomes such as the en bloc resection rate, procedure time and adverse events. RESULTS: The overall recurrence rate was higher in the ESD-H than in the ESD-T group (5.7% vs 0.7%, P = 0.001). The metastatic recurrence rate showed no significant difference between these groups (1.4% vs 1.4%, P = 1.000). Multivariate analysis revealed that a failed en bloc resection (hazard ratio 24.097; 95% CI 5.446-106.237; P < 0.001) and larger tumour size (hazard ratio 1.042; 95% CI 1.014-1.070; P = 0.003) were independently associated with overall recurrence. The ESD-H group showed a lower en bloc resection rate (56.8% vs 96.5%, P < 0.001), shorter procedure time (45.6 vs 54.3 min, P < 0.001) and higher perforation rate (10.3% vs 6.0%, P = 0.029). CONCLUSION: Although long-term outcomes in terms of overall recurrence are inferior following ESD-H, a failed en bloc resection and large tumour size are the only independent risk factors for recurrence. Further investigations are warranted to improve the long-term outcomes of ESD-H.


Assuntos
Neoplasias Colorretais , Ressecção Endoscópica de Mucosa , Neoplasias Colorretais/cirurgia , Dissecação , Ressecção Endoscópica de Mucosa/efeitos adversos , Humanos , Recidiva Local de Neoplasia/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento
5.
Nutr Metab Cardiovasc Dis ; 29(2): 144-151, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30595346

RESUMO

BACKGROUND AND AIM: The associations of long-term exposure to particulate matter <10 µm in size (PM10), nitrogen dioxide (NO2), carbon monoxide (CO), sulfur dioxide (SO2), and ozone (O3) with cardiometabolic diseases (CMD) remain uncertain in the Korean population. Therefore, we sought to examine the associations between PM10, NO2, CO, SO2, and O3 and CMD using data collected from the Korean Community Health Survey. METHODS AND RESULTS: We selected 100,867 adults aged 19 years or older who had lived in the same domicile for ≥10 years and surveyed them to collect data on socioeconomic characteristics; health-related behaviors; obesity; and physician-diagnosed CMD history, including hypertension, diabetes mellitus, dyslipidemia, stroke, myocardial infarction, and ischemic heart disease. We calculated interquartile ranges for PM10, NO2, CO, SO2, and O3 from the 10 year average concentrations (2003-2012). Hypertension, diabetes mellitus, and dyslipidemia were positively associated with PM10, NO2, CO, SO2, and O3 after adjusting for confounding factors. Obesity was positively associated with PM10, NO2, SO2, and O3. On the other hand, we found no associations between stroke, myocardial infarction, and ischemic heart disease and exposure to PM10, NO2, CO, SO2, and O3 in these subjects. In subjects aged ≥65 years, the risk of dyslipidemia was markedly increased under exposure to NO2 and CO compared to subjects aged <65 years. The risk of obesity was also significantly increased under exposure to PM10 and NO2. However, sex differences in these associations were not found. CONCLUSION: Long-term exposure to PM10, NO2, CO, SO2, and O3 may be a risk factor of CMD in Korean adults.


Assuntos
Poluentes Atmosféricos/efeitos adversos , Doenças Cardiovasculares/epidemiologia , Exposição por Inalação/efeitos adversos , Doenças Metabólicas/epidemiologia , Material Particulado/efeitos adversos , Adulto , Idoso , Doenças Cardiovasculares/diagnóstico , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Doenças Metabólicas/diagnóstico , Pessoa de Meia-Idade , Prognóstico , República da Coreia/epidemiologia , Medição de Risco , Fatores de Risco , Fatores de Tempo
6.
Phys Rev Lett ; 120(15): 157203, 2018 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-29756866

RESUMO

Electric field effects on magnetism in metals have attracted widespread attention, but the microscopic mechanism is still controversial. We experimentally show the relevancy between the electric field effect on magnetism and on the electronic structure in Pt in a ferromagnetic state using element-specific measurements: x-ray magnetic circular dichroism (XMCD) and x-ray absorption spectroscopy (XAS). Electric fields are applied to the surface of ultrathin metallic Pt, in which a magnetic moment is induced by the ferromagnetic proximity effect resulting from a Co underlayer. XMCD and XAS measurements performed under the application of electric fields reveal that both the spin and orbital magnetic moments of Pt atoms are electrically modulated, which can be explained not only by the electric-field-induced shift of the Fermi level but also by the change in the orbital hybridizations.

7.
J Eur Acad Dermatol Venereol ; 32(9): 1499-1506, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29430733

RESUMO

BACKGROUND: Psychological aspect and quality of life should be considered in treating patients with psoriasis. OBJECTIVE: We sought to ascertain which clinical characteristics including presence of exposed lesions are associated with impairment of health-related quality of life (HRQoL) in patients with psoriasis. METHODS: The EPI-PSODE study was a nationwide, multicenter, cross-sectional study conducted in Korea that included 1260 adult patients with psoriasis. In addition to clinical characteristics including presence of exposed lesions, data were collected using the Psoriatic Arthritis (PsA) Screening and Evaluation (PASE), Dermatology Life Quality Index (DLQI), MOS 36-Item Short-Form Health Survey (SF-36), Work Productivity and Activity Impairment Questionnaire Psoriasis (WPAI: PSO) and Medication Satisfaction Questionnaire (MSQ). RESULTS: Patients with a DLQI score > 5 (n = 990) were younger, had an earlier onset of psoriasis, scored higher on the Psoriasis Area and Severity Index (PASI), had higher body surface area (BSA) and had higher PASE scores than patients with DLQI ≤ 5 (n = 266). The group of patients with exposed lesions (n = 871) were younger and male predominance, earlier onset of psoriasis, longer disease duration, higher PASI/BSA score and a higher proportion with drinking and smoking history each than the group of patients without exposed lesions (n = 389). Presence of exposed lesions negatively influenced DLQI, 36-Item Short-Form Health Survey (SF-36) (mental component), presenteeism, total work productivity impairment and total activity impairment in the WPAI: PSO. In multiple regression model, PASI score was the only variable which was significantly associated with all HRQoL measures. Presence of exposed lesions was a significant factor affecting DLQI and SF-36 (mental). CONCLUSION: The presence of exposed lesions has a negative impact on quality of life, mental health and work productivity. Therefore, effective treatments are particularly needed for psoriasis patients with exposed lesions.


Assuntos
Psoríase/psicologia , Qualidade de Vida , Adulto , Idade de Início , Consumo de Bebidas Alcoólicas/epidemiologia , Artrite Psoriásica/diagnóstico , Superfície Corporal , Estudos Transversais , Eficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Presenteísmo , Psoríase/epidemiologia , República da Coreia/epidemiologia , Índice de Gravidade de Doença , Fatores Sexuais , Fumar/epidemiologia , Inquéritos e Questionários
8.
Osteoarthritis Cartilage ; 25(4): 570-580, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27789339

RESUMO

OBJECTIVE: Human umbilical cord blood-derived mesenchymal stem cells (hUCB-MSCs) have gained popularity as a promising cell source for regenerative medicine, but limited in vivo studies have reported cartilage repair. In addition, the roles of MSCs in cartilage repair are not well-understood. The purpose of this study was to investigate the feasibility of transplanting hUCB-MSCs and hyaluronic acid (HA) hydrogel composite to repair articular cartilage defects in a rabbit model and determine whether the transplanted cells persisted or disappeared from the defect site. DESIGN: Osteochondral defects were created in the trochlear grooves of the knees. The hUCB-MSCs and HA composite was transplanted into the defect of experimental knees. Control knees were transplanted by HA or left untreated. Animals were sacrificed at 8 and 16 weeks post-transplantation and additionally at 2 and 4 weeks to evaluate the fate of transplanted cells. The repair tissues were evaluated by gross, histological and immunohistochemical analysis. RESULTS: Transplanting hUCB-MSCs and HA composite resulted in overall superior cartilage repair tissue with better quality than HA alone or no treatment. Cellular architecture and collagen arrangement at 16 weeks were similar to those of surrounding normal articular cartilage tissue. Histological scores also revealed that cartilage repair in experimental knees was better than that in control knees. Immunohistochemical analysis with anti-human nuclear antibody confirmed that the transplanted MSCs disappeared gradually over time. CONCLUSION: Transplanting hUCB-MSCs and HA composite promote cartilage repair and interactions between hUCB-MSCs and host cells initiated by paracrine action may play an important role in cartilage repair.


Assuntos
Cartilagem Articular/lesões , Condrogênese , Transplante de Células-Tronco de Sangue do Cordão Umbilical/métodos , Ácido Hialurônico/uso terapêutico , Hidrogel de Polietilenoglicol-Dimetacrilato/uso terapêutico , Traumatismos do Joelho/terapia , Transplante de Células-Tronco Mesenquimais/métodos , Animais , Cartilagem Articular/patologia , Rastreamento de Células , Colágeno/metabolismo , Humanos , Traumatismos do Joelho/patologia , Masculino , Coelhos , Medicina Regenerativa
9.
Phys Rev Lett ; 118(10): 104801, 2017 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-28339245

RESUMO

We report on the experimental generation of relativistic electron bunches with a tunable longitudinal bunch shape. A longitudinal bunch-shaping (LBS) beam line, consisting of a transverse mask followed by a transverse-to-longitudinal emittance exchange (EEX) beam line, is used to tailor the longitudinal bunch shape (or current profile) of the electron bunch. The mask shapes the bunch's horizontal profile, and the EEX beam line converts it to a corresponding longitudinal profile. The Argonne wakefield accelerator rf photoinjector delivers electron bunches into a LBS beam line to generate a variety of longitudinal bunch shapes. The quality of the longitudinal bunch shape is limited by various perturbations in the exchange process. We develop a simple method, based on the incident slope of the bunch, to significantly suppress the perturbations.

10.
Lupus ; 26(1): 88-94, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27510601

RESUMO

OBJECTIVES: Antiphospholipid antibodies (aPL) are present in a proportion of patients with rheumatoid arthritis but their clinical significance remains unclear. We investigated the association between aPL and thrombotic events in rheumatoid arthritis patients. METHODS: In this cross-sectional study, aPL profiles were evaluated in 376 rheumatoid arthritis patients in accordance with the standard guidelines. Clinical and radiographic data were retrospectively collected. RESULTS: aPL were identified in 39 patients (10.4%). Lupus anticoagulant was the most common subtype (n = 25, 6.6%); anti-cardiolipin antibodies and anti-ß2 glycoprotein I antibodies were detected in six and 12 patients (1.6% and 3.2%), respectively. Compared to the aPL-negative group, aPL-positive patients included more male patients (41.0% vs. 15.4%, P < 0.001) and more smokers (41.0% vs. 16.0%, P = 0.001). There was no difference between the two groups in age, disease duration and body mass index, or the frequency of diabetes, hypertension or dyslipidaemia. Of note, arterial thromboses were more common in the aPL-positive than the aPL-negative group (12.8% vs. 2.1%, P = 0.004), whereas the frequency of venous thrombosis did not differ between the two groups (0.0% vs. 0.9%, P = 1.000). On multivariate regression analysis, aPL, age, hypertension, dyslipidaemia and baseline C-reactive protein level were independently associated with arterial thrombotic events (all P values < 0.05). CONCLUSION: aPL was found in a subset of rheumatoid arthritis patients, who were more often smokers, and aPL was independently associated with development of arterial thrombosis. This result suggests that aPL may contribute to an increased risk of arterial thrombosis in rheumatoid arthritis patients.


Assuntos
Anticorpos Antifosfolipídeos/imunologia , Artrite Reumatoide/complicações , Trombose/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Artrite Reumatoide/imunologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Análise de Regressão , Estudos Retrospectivos , Fatores de Risco , Trombose/imunologia , Adulto Jovem
11.
Lupus ; 26(8): 815-824, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28420046

RESUMO

Background The purpose of this study was to evaluate the features of heparan sulfate proteoglycans (HSPGs) as agrins of the glomerular basement membrane (GBM) and circulating anti-heparan sulfate (HS) antibodies in lupus nephritis, comparing titers among the following groups: lupus nephritis (LN), non-renal lupus, non-lupus nephritis, and healthy controls. Methods The stage of nephritis was determined based on the kidney biopsy. Alcian blue staining and immunohistochemical (IHC) staining for agrin were performed for histological evaluation of GBM HSPGs in normal glomeruli, non-lupus membranous glomerulonephritis (MGN), and lupus MGN. The results were used for measurement of the serum anti-HS antibody titers using an enzyme-linked immunosorbent assay (ELISA) in the following groups: 38 healthy controls, 38 non-lupus nephritis, 37 non-renal lupus, and 38 LN. Results Glomerulus HSPGs were stained bluish-green along the GBM with Alcian blue. However, IHC staining against agrin was almost completely negative in the lupus MGN group compared with the normal and non-lupus MGN groups, which showed brown staining of GBM. A higher level of anti-HS IgG was detected in LN compared with other groups, respectively. Higher titers were associated with the presence of SLE and nephritis. A higher degree of proteinuria normalized to glomerular filtration rate (eGFR) was observed in association with higher anti-HS antibody titers in LN. Conclusion This study demonstrated a functional loss of GBM HSPGs and higher levels of circulating anti-HS antibodies as a characteristic feature of lupus nephritis, suggesting their involvement in the pathogenesis of lupus nephritis and proteinuria.


Assuntos
Proteoglicanas de Heparan Sulfato/metabolismo , Heparitina Sulfato/imunologia , Imunoglobulina G/imunologia , Nefrite Lúpica/imunologia , Adulto , Membrana Basal/metabolismo , Estudos de Casos e Controles , Ensaio de Imunoadsorção Enzimática , Feminino , Taxa de Filtração Glomerular , Glomerulonefrite Membranosa/imunologia , Humanos , Glomérulos Renais/imunologia , Glomérulos Renais/metabolismo , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/imunologia , Nefrite Lúpica/fisiopatologia , Masculino , Pessoa de Meia-Idade , Nefrite/imunologia , Proteinúria/etiologia , Proteinúria/imunologia , Adulto Jovem
12.
J Eur Acad Dermatol Venereol ; 31(3): 483-489, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27723134

RESUMO

BACKGROUND: There is a lack of response data for topical treatments for psoriasis vulgaris in Asian patients. OBJECTIVES: To determine the optimal maintenance regimen for topical treatment with calcipotriol monohydrate/betamethasone dipropionate gel in Korean patients with psoriasis vulgaris, by comparing the efficacy of three 8-week maintenance regimens. METHODS: This was a multicentre, prospective, randomized, controlled, parallel-group, open-label, phase 4 clinical trial, conducted in South Korea. Patients with psoriasis vulgaris on the limbs/trunk received once-daily treatment with calcipotriol monohydrate (50 µg/g)/betamethasone dipropionate (500 µg/g) gel for 8 weeks (induction phase). Responders (defined as an Investigator's Global Assessment of Disease Severity (IGA) grade of 'clear' or 'almost clear') were then randomized to receive 8 weeks' maintenance treatment with Xamiol® gel once daily as needed [pro re nata (PRN Group)], once daily every day (Continuous group), or twice weekly - on Saturday and Sunday (Weekend group). The primary endpoint was the percentage of IGA responders at week 16. RESULTS: At the end of the induction phase, 62.18% of patients were IGA responders. At the end of the maintenance phase (week 16), the responder rate was 63.89% for the PRN group, 67.5% for the Continuous group and 31.43% for the Weekend group. The PRN and Continuous groups were statistically superior to the Weekend group (P = 0.0109 and P = 0.0015), but the PRN and Continuous groups did not differ statistically. The incidence of adverse events did not differ significantly between the groups. CONCLUSION: Among Korean patients with psoriasis vulgaris, maintenance treatment with calcipotriol monohydrate/betamethasone dipropionate using a continuous daily regimen or an 'as needed' daily regimen provided similar efficacy, whereas a twice-weekly regimen was significantly less efficacious than either of these regimens.


Assuntos
Betametasona/análogos & derivados , Calcitriol/análogos & derivados , Fármacos Dermatológicos/administração & dosagem , Quimioterapia de Manutenção , Psoríase/tratamento farmacológico , Administração Cutânea , Adulto , Betametasona/administração & dosagem , Betametasona/efeitos adversos , Calcitriol/administração & dosagem , Calcitriol/efeitos adversos , Fármacos Dermatológicos/efeitos adversos , Esquema de Medicação , Combinação de Medicamentos , Feminino , Géis , Humanos , Quimioterapia de Indução , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Prurido/induzido quimicamente , Indução de Remissão , República da Coreia , Índice de Gravidade de Doença
13.
Int J Cosmet Sci ; 39(2): 133-140, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27502959

RESUMO

OBJECTIVE: Licoricidin is an isoflavonoid isolated from Glycyrrhiza uralensis Fisher. In this study, we investigated the effects of licoricidin on photoaging of UVA-irradiated human dermal fibroblasts (HDFs). METHODS: In vitro reactive oxygen species (ROS) scavenging activity, cellular protective effect and inhibition of elastase activity was determined by Fe3+ -EDTA/H2 O2 systems, photohaemolysis and elastase activity assay, respectively. Anti-oxidative capacity of the compound was evaluated by fluorescent ELISA and 2', 7'-dichlorofluorescin-diacetate (DCF-DA) assay. The expression of protein and phosphorylation was examined using Western blot. RESULTS: The ROS scavenging activity (OSC50 ) of licoricidin was 2.77 µM. It was 3.1-fold higher than that of L-ascorbic acid. Its protective effects were confirmed in a study of 1 O2 -induced cellular damage to human erythrocytes. The τ50 value of 10 µM of licoricidin was 71.0 min; this was markedly higher than that obtained with α-tocopherol (37.0 min). The elastase inhibitory activity of licoricidin (IC50 of 61.2 µM) was 2.1-fold more potent than that of oleanolic acid. Licoricidin markedly reduced the UVA-induced intracellular ROS in a concentration-dependent manner. Western blot revealed that licoricidin attenuated the UVA-dependent induction of MMP-1 protein. Mechanistically, this appeared to be due to licoricidin-dependent inhibition of mitogen-activated protein kinases (MAPK) phosphorylation, which resulted in decreased c-Jun activation and reduced c-Jun and c-Fos expression. CONCLUSION: Licoricidin blocks UVA-induced photoaging via ROS scavenging. This activity converges to limit the activity of MMP-1. These data suggest that licoricidin may be considered as an active ingredient in new topically applied anti-ageing formulations.


Assuntos
Benzopiranos/farmacologia , Glycyrrhiza uralensis/química , Pele/efeitos dos fármacos , Raios Ultravioleta , Benzopiranos/isolamento & purificação , Ativação Enzimática/efeitos da radiação , Indução Enzimática , Fibroblastos/efeitos dos fármacos , Humanos , Metaloproteinase 1 da Matriz/biossíntese , Metaloproteinase 1 da Matriz/efeitos dos fármacos , Proteínas Quinases Ativadas por Mitógeno/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Transdução de Sinais/efeitos dos fármacos , Pele/citologia , Pele/metabolismo , Pele/efeitos da radiação , Envelhecimento da Pele
14.
Clin Genet ; 89(6): 728-32, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26596517

RESUMO

The SATB2-associated syndrome (SAS) was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole-exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p.Glu396Gln). Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in SATB2 was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of SAS. SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate.


Assuntos
Deficiências do Desenvolvimento/genética , Predisposição Genética para Doença/genética , Proteínas de Ligação à Região de Interação com a Matriz/genética , Mutação de Sentido Incorreto , Síndrome de Rett/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Sequência de Aminoácidos , Sequência de Bases , Pré-Escolar , Fissura Palatina/genética , Fissura Palatina/patologia , Deficiências do Desenvolvimento/patologia , Exoma/genética , Feminino , Humanos , Lactente , Fenótipo , Síndrome de Rett/patologia , Análise de Sequência de DNA/métodos , Homologia de Sequência de Aminoácidos , Síndrome
15.
Andrologia ; 48(6): 654-61, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26589369

RESUMO

Recent meta-analysis by the Cochrane collaboration concluded that treatment of varicocele may improve an infertile couple's chance of pregnancy. However, there has been no consensus on the management of subclinical varicocele. Therefore, we determine the impact of varicocele treatment on semen parameters and pregnancy rate in men with subclinical varicocele. The randomised controlled trials that assessed the presence and/or treatment of subclinical varicocele were included for systematic review and meta-analysis. Random effect model was used to calculate the weighted mean difference of semen parameters and odds ratio of pregnancy rates. Seven trials with 548 participants, 276 in subclinical varicocelectomy and 272 in no-treatment or clomiphene citrate subjects, were included. Although there was also no statistically significant difference in pregnancy rate (OR 1.29, 95% CI 0.99-1.67), surgical treatment resulted in statistically significant improvements on forward progressive sperm motility (MD 3.94, 95% CI 1.24-6.65). However, the evidence is not enough to allow final conclusions because the quality of included studies is very low and further research is needed.


Assuntos
Infertilidade Masculina/cirurgia , Varicocele/cirurgia , Procedimentos Cirúrgicos Vasculares , Feminino , Humanos , Infertilidade Masculina/etiologia , Masculino , Gravidez , Taxa de Gravidez , Índice de Gravidade de Doença , Resultado do Tratamento , Varicocele/complicações , Varicocele/diagnóstico
17.
Osteoporos Int ; 25(3): 1053-61, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24150214

RESUMO

SUMMARY: The aim of this study was to examine the gender-specific association between sarcopenia and bone geometry/metabolic parameters. Low muscle mass was associated with greater deterioration of bone than in deterioration of glucose or lipid profiles. This bone-muscle relationship was more prominent in men than in women. INTRODUCTION: There are few studies that report on gender differences in the effects of low muscle mass on bone and metabolic parameters in elderly subjects. This study aimed to assess the gender-specific influence of muscle mass on bone and metabolic parameters. METHODS: A total of 2,264 participants (940 men and 1,324 women) whose age ranged from 65 to 92 years were analyzed using data from The Fourth Korea National Health and Nutrition Examination Surveys (2008-2009). We measured bone mineral density (BMD) and appendicular muscle mass using the dual-energy X-ray absorptiometry and also measured metabolic profiles. RESULTS: The age-related trend in bone and muscle coincided in men but not in women. Femoral neck (FN) and total hip (TH) BMD were highly correlated with muscle mass in both genders. However, in women, this correlation was not significant in the lumbar spine (LS). In addition, this positive correlation was stronger in the FN or TH than in the LS and was stronger in men than in women. Subjects with sarcopenia were at a higher risk for osteoporosis in the FN, TH, and LS in men, and in the TH and FN in women. The degree of association between muscle mass and metabolic profiles was relatively very weak. CONCLUSION: Bone-muscle relationship was more prominent in men than in women. The gender differences in bone-muscle relationship may be helpful for the development of gender-specific preventive strategies in the elderly, especially in men.


Assuntos
Envelhecimento/fisiologia , Densidade Óssea/fisiologia , Osteoporose/fisiopatologia , Sarcopenia/fisiopatologia , Caracteres Sexuais , Absorciometria de Fóton/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/patologia , Antropometria/métodos , Feminino , Colo do Fêmur/fisiopatologia , Articulação do Quadril/fisiopatologia , Humanos , Vértebras Lombares/fisiopatologia , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Inquéritos Nutricionais , Tamanho do Órgão/fisiologia , Osteoporose/epidemiologia , República da Coreia/epidemiologia , Sarcopenia/epidemiologia , Sarcopenia/patologia , Adulto Jovem
18.
Osteoporos Int ; 24(12): 3043-51, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23818209

RESUMO

UNLABELLED: The existence of local osteoporosis necessitates patient-specific analysis. Lower and higher ranges of local buckling ratio were found at femoral necks for adequate and inadequate drug response groups, respectively (grouped based on fracture loads). Management of hip fracture risk should be targeted at local geometric abnormalities causing instability. INTRODUCTION: Hip fracture amongst the elderly is a growing concern especially with improvements in living standards and increasing lifespan. Approximately half of the total hip fractures result from those without osteoporosis. This escalates the need to observe local osteoporosis. By observing the local buckling ratio (BR) in the femoral neck in ten risedronate-treated subjects over 3 years, we discovered that subjects with improved fracture loads, as predicted by finite element (FE) analysis, were associated with lower local BR and vice versa. METHODS: The 3D models of the left proximal femurs were generated, and local BR values at 30° intervals were obtained from femoral neck slices by measuring the respective mean cortical thickness and mean outer radius. Following geometric analysis, structural strength was examined with FE analysis where critical fracture loads (F cr) were acquired from sideways fall load simulations. RESULTS: We classified subjects in three groups according to the change in F cr: adequate (+20 %), inadequate (-22 %) and indefinite (-2 %) drug response groups. A common striking feature was that lower and higher ranges of local BR values (baseline year) were found for adequate (min = 2.14, max = 8.04) and inadequate (min = 1.72, max = 11.38) drug response groups, respectively. CONCLUSIONS: Subjects in the inadequate drug response group exhibited high local BR at the supero-anterior and supero-posterior regions. These high local BR values coincided with FE-predicted critical strain regions, whereas subjects from the adequate drug response group showed significantly reduced strain regions. The superiority of coupling geometry (BR) with structure (F cr) over bone mineral density measurements alone by monitoring local osteoporosis has been illustrated.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Ácido Etidrônico/análogos & derivados , Osteoporose Pós-Menopausa/tratamento farmacológico , Idoso , Densidade Óssea/fisiologia , Ácido Etidrônico/uso terapêutico , Feminino , Colo do Fêmur/diagnóstico por imagem , Colo do Fêmur/fisiopatologia , Análise de Elementos Finitos , Seguimentos , Fraturas do Quadril/etiologia , Fraturas do Quadril/fisiopatologia , Fraturas do Quadril/prevenção & controle , Humanos , Imageamento Tridimensional/métodos , Pessoa de Meia-Idade , Osteoporose Pós-Menopausa/diagnóstico por imagem , Osteoporose Pós-Menopausa/fisiopatologia , Fraturas por Osteoporose/etiologia , Fraturas por Osteoporose/fisiopatologia , Fraturas por Osteoporose/prevenção & controle , Ácido Risedrônico , Tomografia Computadorizada por Raios X , Resultado do Tratamento
19.
Osteoporos Int ; 24(11): 2789-99, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23652463

RESUMO

UNLABELLED: Vitamin D insufficiency and sarcopenia are crucial risk factors for osteoporosis. In a study of noninstitutionalized elderly subjects, we investigated the simultaneous effect of vitamin D and sarcopenia on bone mineral density (BMD) and found that sarcopenia was associated with low BMD in the femur, especially in those with suboptimal vitamin D levels. INTRODUCTION: Although vitamin D insufficiency and sarcopenia are prevalent in the elderly population worldwide, their possible influence on BMD has not been determined. We aimed to investigate the different effect of vitamin D insufficiency and sarcopenia on BMD in the elderly Korean population. METHODS: Individuals aged 60 or older were selected from those who participated in the Fourth and Fifth Korea National Health and Nutrition Examination Surveys conducted in 2009 and 2010; 1,596 males and 1,886 females were analyzed. Appendicular skeletal muscle mass (ASM) and BMD were assessed by dual-energy X-ray absorptiometry; serum 25-hydroxyvitamin D [25(OH)D] and a panel of clinical and laboratory parameters were also measured. RESULTS: The study population was divided into four groups according to their vitamin D and sarcopenic status. BMD in total femur and in the femoral neck but not the lumbar spine was markedly decreased in sarcopenic subjects with vitamin D insufficiency [25(OH)D < 20 ng/ml] comparing to other groups, regardless of gender. Multivariable linear regression models showed that BMD was significantly associated with ASM and high daily calcium intake as well as conventional risk factors such as age, body mass index (BMI), and history of fracture. Independent predictors for low femur BMD included sarcopenia, low daily calcium intake, low 25(OH)D levels, age, and BMI. CONCLUSIONS: These data showed that an association between vitamin D insufficiency and low BMD was more prominent in elderly subjects with sarcopenia.


Assuntos
Fêmur/fisiopatologia , Osteoporose/etiologia , Sarcopenia/complicações , Deficiência de Vitamina D/complicações , Absorciometria de Fóton/métodos , Idoso , Antropometria/métodos , Densidade Óssea/fisiologia , Estudos Transversais , Feminino , Colo do Fêmur/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos Nutricionais , Osteoporose/epidemiologia , Osteoporose/fisiopatologia , Osteoporose Pós-Menopausa/epidemiologia , Osteoporose Pós-Menopausa/etiologia , Osteoporose Pós-Menopausa/fisiopatologia , República da Coreia/epidemiologia , Fatores de Risco , Sarcopenia/epidemiologia , Vitamina D/análogos & derivados , Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia
20.
Diabetes Obes Metab ; 15(2): 185-8, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22974254

RESUMO

This study was performed to assess the efficacy of beraprost sodium (BPS) in painful diabetic peripheral neuropathy (DPN) in type 2 diabetes mellitus (T2DM) patients. In this randomized clinical trial, 99 T2DM patients (41% male, age 60 ± 6 years) with DPN but without evidence of peripheral artery disease were randomized to receive either BPS (40 µg, tid) or placebo for 8 weeks. The primary end point was the improvement of the total symptom score (TSS), temperature rebound (TR) and nadir to peak (NP) above baseline. After 8 weeks treatment, the change of TSS in the BPS group showed a significant improvement compared to the placebo group (2.80 ± 2.48 vs. 1.60 ± 1.94 points, p = 0.009). Furthermore, the number of patients who showed signs of improvement in TSS and the proportion of patients with 50% relief of symptom was also significantly greater in the BPS group than in the placebo group (83.7 vs. 62%, p = 0.015, 36.2 vs. 14%, p = 0.009, respectively). In conclusion, treatment with BPS significantly improved TSS over an 8-week period.


Assuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Neuropatias Diabéticas/tratamento farmacológico , Epoprostenol/análogos & derivados , Vasodilatadores/farmacologia , Diabetes Mellitus Tipo 2/complicações , Método Duplo-Cego , Epoprostenol/farmacologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
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