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1.
Curr Issues Mol Biol ; 45(8): 6395-6414, 2023 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-37623223

RESUMO

Osteoarthritis is a chronic inflammatory disease, and, due to the lack of fundamental treatment, the main objective is to alleviate pain and prevent cartilage damage. Kalopanax pictus Nakai and Achyranthes japonica Nakai are herbal plants known for their excellent anti-inflammatory properties. The objective of this study is to confirm the potential of a mixture extract of Kalopanax pictus Nakai and Achyranthes japonica Nakai as a functional raw material for improving osteoarthritis through anti-inflammatory effects in macrophages and MIA-induced arthritis experimental animals. In macrophages inflamed by lipopolysaccharide (LPS), treatment of Kalopanax pictus Nakai and Achyranthes japonica Nakai mixture inhibits NF-κB and mitogen-activated protein kinase (MAPK) activities, thereby inhibiting inflammatory cytokine tumor necrosis factor-alpha (TNF-α) and interleukin 6 (IL-6), inflammatory factors PGE2, MMP-2, and MMP-9, and nitric oxide (NO) was reduced. In addition, in an animal model of arthritis induced by MIA (monosodium iodoacetate), administration of Kalopanax pictus Nakai and Achyranthes japonica Nakai mixture reduced blood levels of inflammatory cytokines TNF-α and IL-6, inflammatory factors prostaglandin E2(PGE2), matrix metalloproteinase-2(MMP-2), and NO. Through these anti-inflammatory effects, MIA-induced pain reduction (recovery of clinical index, increase in weight bearing, and increase in area and width of the foot), recovery of meniscus damage, loss of cartilage tissue or inflammatory cells in tissue infiltration reduction, and recovery of the proteglycan layer were confirmed. Therefore, it is considered that Kalopanax pictus Nakai and Achyranthes japonica Nakai mixture has the potential as a functional raw material that promotes joint health.

2.
Nucleic Acids Res ; 49(D1): D82-D85, 2021 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-33175160

RESUMO

The European Nucleotide Archive (ENA; https://www.ebi.ac.uk/ena), provided by the European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI), has for almost forty years continued in its mission to freely archive and present the world's public sequencing data for the benefit of the entire scientific community and for the acceleration of the global research effort. Here we highlight the major developments to ENA services and content in 2020, focussing in particular on the recently released updated ENA browser, modernisation of our release process and our data coordination collaborations with specific research communities.


Assuntos
Biologia Computacional/métodos , Bases de Dados de Ácidos Nucleicos/tendências , Ácidos Nucleicos/genética , Nucleotídeos/genética , Bases de Dados de Ácidos Nucleicos/estatística & dados numéricos , Europa (Continente) , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Internet , Anotação de Sequência Molecular , Ácidos Nucleicos/química , Nucleotídeos/química , Análise de Sequência de DNA , Análise de Sequência de RNA
3.
Nucleic Acids Res ; 46(W1): W200-W204, 2018 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-29905871

RESUMO

The HMMER webserver [http://www.ebi.ac.uk/Tools/hmmer] is a free-to-use service which provides fast searches against widely used sequence databases and profile hidden Markov model (HMM) libraries using the HMMER software suite (http://hmmer.org). The results of a sequence search may be summarized in a number of ways, allowing users to view and filter the significant hits by domain architecture or taxonomy. For large scale usage, we provide an application programmatic interface (API) which has been expanded in scope, such that all result presentations are available via both HTML and API. Furthermore, we have refactored our JavaScript visualization library to provide standalone components for different result representations. These consume the aforementioned API and can be integrated into third-party websites. The range of databases that can be searched against has been expanded, adding four sequence datasets (12 in total) and one profile HMM library (6 in total). To help users explore the biological context of their results, and to discover new data resources, search results are now supplemented with cross references to other EMBL-EBI databases.


Assuntos
Análise de Sequência , Software , Domínio Catalítico , Bases de Dados Genéticas , Internet , Cadeias de Markov , Análise de Sequência de Proteína , Interface Usuário-Computador
4.
Nucleic Acids Res ; 45(D1): D190-D199, 2017 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-27899635

RESUMO

InterPro (http://www.ebi.ac.uk/interpro/) is a freely available database used to classify protein sequences into families and to predict the presence of important domains and sites. InterProScan is the underlying software that allows both protein and nucleic acid sequences to be searched against InterPro's predictive models, which are provided by its member databases. Here, we report recent developments with InterPro and its associated software, including the addition of two new databases (SFLD and CDD), and the functionality to include residue-level annotation and prediction of intrinsic disorder. These developments enrich the annotations provided by InterPro, increase the overall number of residues annotated and allow more specific functional inferences.


Assuntos
Biologia Computacional/métodos , Bases de Dados de Proteínas , Domínios e Motivos de Interação entre Proteínas , Software , Humanos , Anotação de Sequência Molecular , Filogenia
5.
Eur J Clin Microbiol Infect Dis ; 37(6): 1119-1123, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29667110

RESUMO

We aimed to elucidate the potential impact of gender on prognosis of Staphylococcus aureus bacteremia (SAB). We analyzed SAB cases prospectively collected over an 8-year period at 11 hospitals in Korea. SAB-related mortality was pre-defined as a death within 30 days from the onset of SAB without other apparent cause of death. The effect of gender on SAB-related mortality was examined in the entire cohort and in subgroups stratified according to methicillin resistance and Charlson's comorbidity-weighted index (CCWI) score. Those factors independently associated to SAB-related mortality were explored. Among 1974 eligible cases, SAB-related mortality rates in male and female were 21.2% (259/1224) and 21.9% (164/750), respectively (P = 0.786). The SAB-related mortality rate was independently higher in male than that in female in CCWI score ≤ 3 methicillin-resistant SAB (MRSAB) group (15.9 vs. 6.2%; aOR 3.65, 95% CI 1.46-9.13; P = 0.006) while the association tended to be inverse when CCWI score rises. Interaction between CCWI score and gender to MRSAB-related mortality was significant in multivariate analysis (aOR 0.85, 95% CI 0.74-0.96; P = 0.011). There was no significant interaction between gender and CCWI in entire SAB or methicillin-susceptible SAB cohorts. Gender may affect clinical outcomes of MRSAB differently depending on the severity of underlying disease.


Assuntos
Bacteriemia/diagnóstico , Bacteriemia/mortalidade , Staphylococcus aureus Resistente à Meticilina/isolamento & purificação , Infecções Estafilocócicas/diagnóstico , Idoso , Antibacterianos/farmacologia , Bacteriemia/epidemiologia , Bacteriemia/microbiologia , Estudos de Coortes , Infecção Hospitalar/epidemiologia , Infecção Hospitalar/microbiologia , Feminino , Hospitais , Humanos , Masculino , Staphylococcus aureus Resistente à Meticilina/efeitos dos fármacos , Pessoa de Meia-Idade , Prognóstico , República da Coreia , Índice de Gravidade de Doença , Fatores Sexuais , Infecções Estafilocócicas/epidemiologia , Infecções Estafilocócicas/microbiologia , Infecções Estafilocócicas/mortalidade
6.
Gastric Cancer ; 21(6): 925-935, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29627937

RESUMO

BACKGROUND: Gastric cancer with lymphoid stroma (GCLS) is pathologically characterized by poorly developed tubular structures with a prominent lymphocytic infiltration. Its clinical and prognostic features differ in patients positive and negative for Epstein-Barr virus (EBV) infection. This study analyzed the expression of programmed cell death-1 (PD-1), programmed cell death ligand-1 (PD-L1), and the density of tumor-infiltrating lymphocytes (TILs) including CD3+ and CD8+ T cells, as well as their prognostic significance in patients with GCLS. METHODS: The study included 58 patients with GCLS (29 EBV+ and 29 EBV-) who underwent curative resection. Expression of CD3, CD8, PD-1, and PD-L1 in tumor cells and TILs was analyzed using a quantitative multispectral imaging system (Opal™), with these results validated by immuno-histochemical assays for PD-L1 on whole slide sections. RESULTS: The proportion of tumors overexpressing PD-L1 (31.0 vs. 0%, P = 0.002), TIL density (4548 vs. 2631/mm2, P < 0.001), and intra-tumoral CD8+ T-cell density (2650 vs. 1060/mm2, P < 0.001) were significantly higher in EBV+ than in EBV- GCLS. In addition, CD8+/CD3+ T-cell ratio was higher in EBV+ than in EBV- GCLS (55.3 vs. 35.8%, P < 0.001). Lower TIL density, defined as < 1350/mm2, was a significant negative factor of survival. CONCLUSIONS: Despite histopathological similarity, quantitative multispectral imaging revealed differences in the tumor immune micro-environment between EBV+ and EBV- GCLS, indicating that the underlying pathogenesis differs in these two disease entities. TIL density may be a prognostic marker in patients with GCLS.


Assuntos
Infecções por Vírus Epstein-Barr/patologia , Tecido Linfoide/patologia , Neoplasias Gástricas/imunologia , Neoplasias Gástricas/mortalidade , Neoplasias Gástricas/virologia , Adulto , Idoso , Antígeno B7-H1/metabolismo , Biomarcadores Tumorais/imunologia , Biomarcadores Tumorais/metabolismo , Complexo CD3/metabolismo , Linfócitos T CD8-Positivos/patologia , Infecções por Vírus Epstein-Barr/imunologia , Infecções por Vírus Epstein-Barr/virologia , Feminino , Herpesvirus Humano 4/patogenicidade , Humanos , Linfócitos do Interstício Tumoral/patologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Receptor de Morte Celular Programada 1/metabolismo , Estudos Retrospectivos , Neoplasias Gástricas/cirurgia , Análise de Sobrevida , Microambiente Tumoral/imunologia
7.
Acta Radiol ; 58(10): 1269-1275, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28173726

RESUMO

Background The distally extended muscle belly of the flexor digitorum (MB-FD) within the carpal tunnel has been suggested as a plausible cause for carpal tunnel syndrome (CTS) based on cadaveric studies. Purpose To evaluate whether MB-FD within the carpal tunnel is a risk factor for CTS by comparing asymptomatic volunteers and patients with CTS. Material and Methods Presence, length, and cross-sectional area of MB-FD within the carpal tunnel were evaluated in 63 wrists of 32 asymptomatic volunteers and 52 wrists of 33 patients with CTS using ultrasonography. Length of MB-FD within the carpal tunnel was measured as the distance between the distal end of MB-FD and the palmar margin of the distal radius longitudinally. On a transverse scan, the cross-sectional area of MB-FD at the proximal limit of the carpal tunnel was measured. Results MB-FD in the carpal tunnel was found in 39 (62%) asymptomatic volunteers and 35 (67%) patients with CTS ( P = 0.549). There was a female preponderancy of MB-FD within the carpal tunnel in asymptomatic volunteers ( P = 0.044), but not in patients. Length and cross-sectional area of MB-FD within the carpal tunnel were significantly greater in male-CTS patients than in male volunteers ( P = 0.022 and 0.012, respectively). These qualities were risk factors for CTS in men, though not in women. Conclusion The presence of distally extended MB-FD within the carpal tunnel was not a risk factor for CTS. In men, a longer and thicker MB-FD within the carpal tunnel increased the risk for CTS.


Assuntos
Síndrome do Túnel Carpal/diagnóstico por imagem , Músculo Esquelético/anatomia & histologia , Ultrassonografia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco
8.
Breast Cancer Res Treat ; 160(2): 269-276, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27665585

RESUMO

PURPOSE: Breast cancer patients undergoing axillary lymph node dissection (ALND) are at risk of lymphedema (LE). Successful management of LE relies on early diagnosis using sensitive modalities. In the current study, we explored the effectiveness of a surveillance program for lymphedema management (SLYM) compared to standard care. METHODS: Breast cancer patients who underwent ALND in Seoul National University Bundang Hospital from January 2008 to December 2015 were included in this prospective study. The SLYM commenced in May 2011. The LE outcomes of patients treated prior to initiation of the SLYM were compared with those of patients after SLYM implementation. RESULTS: A total of 707 patients were included, 390 in the SLYM group and 317 in the historical control (HC) group. A total of 203 patients (28.7 %) had episodes of all-stage LE during follow-up. Of these, 126 (19.7 %) were in the surveillance group and 77 (24.3 %) in the HC group. The overall 5-year cumulative incidence of LE (greater than stage 3) was 25 (95 % CI 15.4-34.6) (6.4 %) in the SLYM group and 48 (95 % CI, 15.4-34.6) (15.1 %) in the HC group. In the SLYM group, poor compliance had a significant impact on LE incidence (OR = 2.98, P = 0.002). Low level of self-monitoring and insight scores were significantly related to LE incidence (OR = 1.31, P = 0.025) after adjusting for age, body mass index, the type of surgery chosen, radiation therapy, and chemotherapy. With a cut-off of 29.5 days from operation to the first visit to the LE clinic, the sensitivity was 60 % and the specificity 61 % in terms of predicting a LE event. CONCLUSIONS: Surveillance improves LE prevention compared to clinical evaluation. The first visit to the LE clinic should be made within 1 month after surgery. In the first year, visits should be made at intervals of less than 3 months.


Assuntos
Neoplasias da Mama/complicações , Linfedema/etiologia , Linfedema/prevenção & controle , Adulto , Idoso , Idoso de 80 Anos ou mais , Axila/patologia , Neoplasias da Mama/mortalidade , Neoplasias da Mama/terapia , Terapia Combinada/efeitos adversos , Terapia Combinada/métodos , Feminino , Humanos , Incidência , Estimativa de Kaplan-Meier , Excisão de Linfonodo/efeitos adversos , Linfedema/diagnóstico , Linfedema/epidemiologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Modelos de Riscos Proporcionais , Curva ROC , Fatores de Risco , Biópsia de Linfonodo Sentinela , Adulto Jovem
9.
Behav Brain Funct ; 12(1): 22, 2016 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-27401254

RESUMO

BACKGROUND: Cancer diagnosis is associated with an increased suicide risk, particularly within the first 1 year after diagnosis of cancer. Abnormal function of the hypothalamic-pituitary-adrenal axis has been implicated in the pathophysiology of depression and suicide. We examined genetic associations of the functional Bcl-1 polymorphism of (rs41423247) neuron-specific glucocorticoid receptor (NR3C1) gene, with death by suicide in cancer patients. Suicides occurring within a year of cancer diagnosis ('early suicide') were considered separately from those suicides during the second or subsequent year ('late suicide') after cancer diagnosis. METHODS: The subjects consisted of 343 cancer patients admitted to a general hospital in Seoul, South Korea from 1996 to 2009, of which 182 had died by suicide and 161 were alive on December 31, 2009. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue sample of patients with cancer. We conducted a case-control association analysis of Bcl-1 polymorphism of NR3C1 gene. RESULTS: Subjects carrying the GG genotype of Bcl-1 polymorphism were at increased risk of early suicide when compared to those carrying the CC genotype (OR 3.80, 95 % CI 1.02-14.16, p = .047). Similarly, those individuals carrying the GG genotype (recessive mode) had an increased risk of early suicide relative to the CC or CG genotype (OR 3.71, 95 % CI 1.03-13.43, p = .045). However, there were no differences in the genotype distributions of the NR3C1 Bcl-1 polymorphism between late suicide cases and controls. CONCLUSIONS: Our findings suggest that the NR3C1 Bcl-1 polymorphisms may be involved in the susceptibility to suicide within the first year after cancer diagnosis among cancer patients in Korean population.


Assuntos
Receptores de Glucocorticoides/genética , Adulto , Idoso , Estudos de Casos e Controles , Depressão/genética , Transtorno Depressivo/genética , Feminino , Frequência do Gene/genética , Genes bcl-1/genética , Predisposição Genética para Doença , Haplótipos , Humanos , Sistema Hipotálamo-Hipofisário , Masculino , Pessoa de Meia-Idade , Neoplasias/psicologia , Neurônios/metabolismo , Sistema Hipófise-Suprarrenal , Polimorfismo de Nucleotídeo Único , Receptores de Glucocorticoides/metabolismo , República da Coreia , Fatores de Risco , Suicídio/psicologia
10.
AJR Am J Roentgenol ; 204(2): 360-6, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25615759

RESUMO

OBJECTIVE. The purpose of this study was to evaluate the prevalence, radiologic characteristics, and accuracy of diagnosing delaminated tears at the supraspinatus tendon-infraspinatus tendon (SST-IST) on indirect MR arthrography. MATERIALS AND METHODS. Of 531 consecutive shoulders that underwent indirect MR arthrography, 231 shoulders with tears at the SST-IST were included. On the MR images, delaminated tears at the SST-IST, defined as intratendinous horizontal splitting between the articular and bursal layers of the SST-IST with or without different degrees of retraction between the two layers, were identified and classified into six types. Other radiologic findings of the SST-IST, such as the presence of intramuscular cysts, were evaluated. We used video records of 127 arthroscopic surgeries to determine the diagnostic accuracy of indirect MRI for the detection of the delaminated tears at the SST-IST. RESULTS. On MRI, 56% (129/231) of shoulders with SST-IST tears had delaminated tears. Articular-delaminated full-thickness tears (n = 58) and articular-delaminated partial-thickness tears (n = 64) were the most common types. Approximately 82% (36/44) of articular-delaminated full-thickness tears occurring at the SST were combined with articular-delaminated partial-thickness tears at the IST. SST-IST footprint tears and intramuscular cysts were significantly more common in the shoulders with delaminated tears. The sensitivity and specificity of indirect MR arthrography for detection of delaminated tears were 92% and 94%, respectively. CONCLUSION. On indirect MR arthrography, approximately half of the shoulders with SST-IST tears had delaminated tears. The diagnostic accuracy of indirect MR arthrography for detection of delaminated tears was high.


Assuntos
Artrografia/métodos , Imageamento por Ressonância Magnética , Lesões do Manguito Rotador , Traumatismos dos Tendões/diagnóstico , Traumatismos dos Tendões/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Adulto Jovem
11.
Nucleic Acids Res ; 41(Database issue): D30-5, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23203883

RESUMO

The European Nucleotide Archive (ENA; http://www.ebi.ac.uk/ena/) collects, maintains and presents comprehensive nucleic acid sequence and related information as part of the permanent public scientific record. Here, we provide brief updates on ENA content developments and major service enhancements in 2012 and describe in more detail two important areas of development and policy that are driven by ongoing growth in sequencing technologies. First, we describe the ENA data warehouse, a resource for which we provide a programmatic entry point to integrated content across the breadth of ENA. Second, we detail our plans for the deployment of CRAM data compression technology in ENA.


Assuntos
Sequência de Bases , Bases de Dados de Ácidos Nucleicos , Compressão de Dados , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Internet , Interface Usuário-Computador
12.
J Korean Med Sci ; 30(7): 882-8, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26130950

RESUMO

Mutations in the calreticulin gene, CALR, have recently been discovered in subsets of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). We investigated Korean patients with ET and PMF to determine the prevalence, and clinical and laboratory correlations of CALR/JAK2/MPL mutations. Among 84 ET patients, CALR mutations were detected in 23 (27.4%) and were associated with higher platelet counts (P=0.006) and lower leukocyte counts (P=0.035) than the JAK2 V617F mutation. Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P=0.035) and trended to a lower rate of cytogenetic abnormalities (P=0.059) than the JAK2 V617F mutation. By multivariate analysis, triple-negative status was associated with shorter overall survival (HR, 7.0; 95% CI, 1.6-31.1, P=0.01) and leukemia-free survival (HR, 6.3; 95% CI, 1.8-22.0, P=0.004) in patients with PMF. The type 1 mutation was the most common (61.1%) type among all patients with CALR mutations, and tended toward statistical predominance in PMF patients. All 3 mutations were mutually exclusive and were never detected in patients with other myeloid neoplasms showing thrombocytosis. CALR mutations characterize a distinct group of Korean ET and PMF patients. Triple-negative PMF patients in particular have an unfavorable prognosis, which supports the idea that triple-negative PMF is a molecularly high-risk disease.


Assuntos
Calreticulina/genética , Janus Quinase 2/genética , Mielofibrose Primária/genética , Receptores de Trombopoetina/genética , Trombocitemia Essencial/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Intervalo Livre de Doença , Feminino , Frequência do Gene , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Mielofibrose Primária/mortalidade , República da Coreia , Trombocitemia Essencial/mortalidade , Adulto Jovem
13.
Acta Radiol ; 55(9): 1104-11, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24259299

RESUMO

BACKGROUND: The rotator cable is an important structure providing stress shield to the rotator cuff, similar to the mechanism of suspension bridge. PURPOSE: To evaluate the visibility and appearance of the rotator cable in various conditions of the rotator cuff, using indirect magnetic resonance (MR) arthrography. MATERIAL AND METHODS: Indirect MR arthrography images from 27 patients (age range, 20-63 years) with normal rotator cuffs, and 47 (age range, 20-73 years) with tendinosis, 32 (age range, 49-71 years) with partial-thickness tears, and 55 (age range, 44-75 years) with full-thickness tears in the supraspinatus and infraspinatus tendons (SST-ISTs) were included in this study. In these various rotator cuff conditions, the visibility and appearance (thickness and width) of the rotator cable and the relationships between the rotator cable appearance, rotator cuff tear size, rotator cuff thickness, and patient's age were assessed. RESULTS: On the sagittal MR images, all rotator cables were visible in the normal rotator cuffs and tendinosis/partial-thickness tears of SST-ISTs. In the order of normal cuff, tendinosis, partial-thickness tear, and full-thickness tear of SST-ISTs, the rotator cable tended to become thicker (1.07, 1.27, 1.32, and 1.59 mm, respectively) and narrower (12.1, 10.68, 10.90, and 8.55 mm, respectively). The thickness of the rotator cable was significantly positively correlated with the rotator cuff thickness in the normal rotator cuffs (coefficient, 0.49; P = 0.010) and tendinosis of SST-ISTs (coefficient, 0.53; P < 0.001), but was not correlated with patients' age. CONCLUSION: On sagittal plane of indirect MR arthrography, most rotator cables were visible. The appearance of the rotator cable changed according to the rotator cuff condition.


Assuntos
Imageamento por Ressonância Magnética/métodos , Manguito Rotador/patologia , Adulto , Idoso , Artroscopia , Meios de Contraste , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Compostos Organometálicos , Estudos Retrospectivos , Manguito Rotador/cirurgia
14.
J Med Ultrason (2001) ; 41(2): 233-7, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27277779

RESUMO

Primary malignancies presenting with multiple distant metastases include lung cancer, gastrointestinal malignancy, breast cancer, and prostatic cancer. Multiple distant metastases from follicular thyroid carcinoma (FTC) are uncommon. Cystic formation in FTC is an atypical finding in ultrasonography. The cystic formation of a thyroid nodule is usually considered a benign sonographic finding. We report the case of a 78-year-old man who presented with multiple distant metastases from an FTC with a predominantly cystic formation.

15.
J Hum Genet ; 58(8): 521-5, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23677057

RESUMO

Kawasaki disease (KD) is often complicated by coronary artery lesions (CALs), including aneurysms. Because of the complications associated with KD, this disorder is the leading cause of acquired heart disease in children from developed countries. To identify genetic loci that confer a higher risk of developing CALs, we performed a case-control association study using previous genome-wide association study data for samples from KD cases only (n=186) by grouping KD patients without CALs (control: n=123) vs KD patients with extremely large aneurysms (diameter>5 mm) (case: n=17). Twelve loci with one or more sequence variants were found to be significantly associated with CALs (P<1 × 10(-5)). Of these, an SNP (rs17136627) in the potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2) at 5q22.3 was validated in 32 KD patients with large aneurysms (diameter>5 mm) and 191 KD patients without CALs (odds ratio (OR)=12.6, P(combined)=1.96 × 10(-8)). This result indicates that the KCNN2 gene can have an important role in the development of coronary artery aneurysms in KD.


Assuntos
Aneurisma Coronário/complicações , Aneurisma Coronário/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/genética , Canais de Potássio Ativados por Cálcio de Condutância Baixa/genética , Pré-Escolar , Éxons/genética , Feminino , Loci Gênicos/genética , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Sequências Repetitivas de Ácido Nucleico/genética , Reprodutibilidade dos Testes , Fatores de Risco , Análise de Sequência de DNA
16.
Clin Nutr Res ; 12(3): 177-183, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37593213

RESUMO

Bariatric surgery is the most effective treatment for sustained weight reduction, and it can result in substantial improvements in the severity of type 2 diabetes, metabolic syndrome, nonalcoholic fatty liver disease, and quality of life. However, sleeve gastrectomy, a weight loss surgery that removes two-thirds of the stomach, reduces appetite and nutrient absorption, impairing digestion and the absorption of nutrients like iron, vitamin B12, and protein-bound nutrients. This case study aims to demonstrate that patients undergoing sleeve gastrectomy require long-term and periodic monitoring of biochemical data, weight changes, and caloric and protein intake by a professional nutritionist to prevent malnutrition and nutritional deficiencies. In this case study, a 48-year-old woman was diagnosed with morbid obesity, hypertension, sleep apnea syndrome, and chronic gastritis. At initial evaluation, she was 160 cm tall and weighed 89 kg, with a body mass index of 34.8 kg/m2. At 1 postoperative year, she consumed 650 kcal and 25 g of protein per day, the percentage of excess weight loss was 141.1%, and body mass index was 21 kg/m2. Compared to preoperative levels, calcium and folic acid levels did not decrease after 1 postoperative year, but hemoglobin, ferritin, and vitamin B12 levels decreased. In conclusion, when patients experience rapid weight loss after sleeve gastrectomy, follow-up should be frequent and long. Dietary education should be conducted according to digestive symptoms, and oral nutritional supplements, including vitamins and minerals.

17.
Hum Genet ; 131(3): 471-8, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21959382

RESUMO

Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants that influence stature, we sequenced whole exomes of four children with idiopathic short stature. Ninety-five nonsynonymous single-nucleotide polymorphisms (nsSNPs) were selected as potential candidate variants. We performed association analysis in 740 cohort individuals and identified 11 nsSNPs in 10 loci (DIS3L2, ZBTB38, FAM154A, PTCH1, TSSC4, KIF18A, GPR133, ACAN, FAM59A, and NINL) associated with adult height (P < 0.05), including five novel loci. Of these, two nsSNPs (TSSC4 and KIF18A loci) were significant at P < 0.05 in the replication study (n = 1,000) and five (ZBTB38, FAM154A, TSSC4, KIF18A, and FAM59A loci) were significant at P < 0.01 in the combined analysis (n = 1,740). Together, the five nsSNPs accounted for approximately 2.5% of the height variation. This study demonstrated the utility of next-generation sequencing in identifying genetic variants and loci associated with complex traits.


Assuntos
Estatura/genética , Exoma , Polimorfismo de Nucleotídeo Único , Feminino , Perfilação da Expressão Gênica , Genoma Humano , Transtornos do Crescimento/genética , Humanos , Coreia (Geográfico) , Masculino , Análise de Sequência de DNA
18.
Hum Genet ; 129(5): 487-95, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21221998

RESUMO

Kawasaki disease (KD) is an acute self-limited vasculitis of infants and children that manifests as fever and signs of mucocutaneous inflammation. Coronary artery aneurysms develop in approximately 15-25% of untreated children. Although the etiology of KD is largely unknown, epidemiologic data suggest the importance of genetic factors in the susceptibility to KD. In order to identify genetic variants that influence KD susceptibility, we performed a genome-wide association study (GWAS) using Affymetrix SNP array 6.0 in 186 Korean KD patients and 600 healthy controls; 18 and 26 genomic regions with one or more sequence variants were associated with KD and KD with coronary artery lesions (CALs), respectively (p < 1 × 10(-5)). Of these, one locus on chromosome 1p31 (rs527409) was replicated in 266 children with KD and 600 normal controls (odds ratio [OR] = 2.90, 95% confidence interval [CI] = 1.85-4.54, P (combined) = 1.46 × 10(-6)); and a PELI1 locus on chromosome 2p13.3 (rs7604693) was replicated in 86 KD patients with CALs and 600 controls (OR = 2.70, 95% CI = 1.77-4.12, P (combined) = 2.00 × 10(-6)). These results implicate a locus in the 1p31 region and the PELI1 gene locus in the 2p13.3 region as susceptibility loci for KD and CALs, respectively.


Assuntos
Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 2/genética , Loci Gênicos , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Síndrome de Linfonodos Mucocutâneos/genética , Adulto , Povo Asiático/genética , Aneurisma Coronário/genética , Feminino , Humanos , Desequilíbrio de Ligação , Masculino , Polimorfismo de Nucleotídeo Único
19.
Surg Endosc ; 25(8): 2666-77, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21424201

RESUMO

BACKGROUND: Endoscopic submucosal dissection (ESD) allows en bloc resection of the entire lesion, permitting a higher curative resection rate and increased quality of life by minimizing the resection size compared with that of endoscopic mucosal resection (EMR). Although ESD has been implemented at most university hospitals in Korea, potential complications of ESD such as bleeding and perforation raise doubts in the therapeutic decision on use of the ESD procedure for early gastric cancer patients and in reimbursement decision making. This systematic review aimed to address both the effectiveness and safety outcomes of ESD versus EMR for early gastric cancer. METHODS: MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), and Koreamed were searched using the primary keywords "stomach neoplasm" AND "endoscopic submucosal dissection" AND "endoscopic mucosal resection." To assess the quality of selected studies, the methodologic approach of the Scottish Intercollegiate Guidelines Network was used. Five effectiveness-relevant and three safety-relevant outcome measures were extracted. Bibliography management and metaanalysis for each outcome were conducted using Review Manager 5.0. RESULTS: Three nonconcurrent cohort studies and nine retrospective cohort studies were identified. Metaanalyses showed ESD to be significantly more effective than EMR for en bloc resection (odds ratio [OR], 8.43; 95% confidence interval [CI], 5.20-13.67), complete resection (OR, 14.11; 95% CI, 10.85-18.35), curative resection (OR, 3.28; 95% CI, 1.95-5.54), and local recurrence (risk ratio [RR], 0.13; 95% CI, 0.04-0.41). Whereas intraoperative bleeding (RR, 2.16; 95% CI, 1.14-4.09), perforation risk (RR, 3.58; 95% CI, 1.95-6.55), and operation time (standard mean difference [SMD], 1.55; 95% CI, 0.74-2.37) were significantly greater for ESD, overall bleeding risk (RR, 1.22; 95% CI, 0.76-1.98) and all-cause mortality (RR, 0.65; 95% CI, 0.08-5.38) did not differ significantly between ESD and EMR. CONCLUSIONS: Considering that bleeding risk did not differ significantly between ESD and EMR and that perforation risk usually does not lead to life-threatening disease, the effectiveness benefit of ESD can outweigh the overall harm compared with EMR on the condition that ESD is performed by experienced practitioners.


Assuntos
Mucosa Gástrica/cirurgia , Gastroscopia/métodos , Neoplasias Gástricas/cirurgia , Humanos , Neoplasias Gástricas/patologia
20.
J Hosp Palliat Care ; 24(1): 36-45, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37675049

RESUMO

Purpose: This study examined the relationship between Knowledge of Life-sustaining Treatment Plans and Attitudes toward Withdrawal of Life-sustaining Treatment among nursing college students, and attempted to identify the mediating effect of Role Perception on Life-sustaining Treatment in that relationship. It is hoped that the findings will ultimately contribute to the development of active nursing strategies. Methods: The participants were 142 nursing college students in the third and fourth years of study who had experienced clinical practice at two universities in cities Y and C. Data were collected from November 1 to 30, 2019. For data analysis, SPSS for Windows version 22.0 was used to calculate descriptive statistics, the t-test, Pearson's correlation coefficients, and multiple regression. To analyze the mediating effect, the Baron and Kenny bootstrapping method was used. Results: Attitudes toward Withdrawal of Life-sustaining Treatment of nursing college students had a significant positive correlation with Knowledge of Life-sustaining Treatment Plans (r=0.34, P<0.001) and Role Perception on Life-sustaining Treatment (r=0.44, P<0.001). Role Perception on Life-sustaining Treatment partially mediated the relationship between Knowledge of Life-sustaining Treatment Plans and Attitudes toward Withdrawal of Life-sustaining Treatment (95% CI, 0.446~1.055). Conclusion: Based on the results of this study, improving nursing college students' Role Perception on Life-sustaining Treatment could be used as a coping strategy to establish positive Attitudes toward Withdrawal of Life-sustaining Treatment.

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