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1.
Nutrients ; 16(9)2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38732512

RESUMO

Non-invasive diagnostics are crucial for the timely detection of renal cell carcinoma (RCC), significantly improving survival rates. Despite advancements, specific lipid markers for RCC remain unidentified. We aimed to discover and validate potent plasma markers and their association with dietary fats. Using lipid metabolite quantification, machine-learning algorithms, and marker validation, we identified RCC diagnostic markers in studies involving 60 RCC and 167 healthy controls (HC), as well as 27 RCC and 74 HC, by analyzing their correlation with dietary fats. RCC was associated with altered metabolism in amino acids, glycerophospholipids, and glutathione. We validated seven markers (l-tryptophan, various lysophosphatidylcholines [LysoPCs], decanoylcarnitine, and l-glutamic acid), achieving a 96.9% AUC, effectively distinguishing RCC from HC. Decreased decanoylcarnitine, due to reduced carnitine palmitoyltransferase 1 (CPT1) activity, was identified as affecting RCC risk. High intake of polyunsaturated fatty acids (PUFAs) was negatively correlated with LysoPC (18:1) and LysoPC (18:2), influencing RCC risk. We validated seven potential markers for RCC diagnosis, highlighting the influence of high PUFA intake on LysoPC levels and its impact on RCC occurrence via CPT1 downregulation. These insights support the efficient and accurate diagnosis of RCC, thereby facilitating risk mitigation and improving patient outcomes.


Assuntos
Biomarcadores Tumorais , Carcinoma de Células Renais , Neoplasias Renais , Humanos , Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Estudos de Casos e Controles , Masculino , Feminino , Pessoa de Meia-Idade , Biomarcadores Tumorais/sangue , Idoso , Ácidos Graxos Insaturados/administração & dosagem , Ácidos Graxos Insaturados/sangue , Carnitina O-Palmitoiltransferase/metabolismo , Adulto , Lisofosfatidilcolinas/sangue , Carnitina/sangue , Carnitina/análogos & derivados , Aprendizado de Máquina , Metabolismo dos Lipídeos , Triptofano/sangue
2.
Medicina (Kaunas) ; 60(1)2024 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-38276060

RESUMO

ERBB3, a key member of the receptor tyrosine kinase family, is implicated in the progression and development of various human cancers, affecting cellular proliferation and survival. This study investigated the expression of ERBB3 isoforms in renal clear cell carcinoma (RCC), utilizing data from 538 patients from The Cancer Genome Atlas (TCGA) Firehose Legacy dataset. Employing the SUPPA2 tool, the activity of 10 ERBB3 isoforms was examined, revealing distinct expression patterns in RCC. Isoforms uc001sjg.3 and uc001sjh.3 were found to have reduced activity in tumor tissues, while uc010sqb.2 and uc001sjl.3 demonstrated increased activity. These variations in isoform expression correlate with patient survival and tumor aggressiveness, indicating their complex role in RCC. The study, further, utilizes CIBERSORTx to analyze the association between ERBB3 isoforms and immune cell profiles in the tumor microenvironment. Concurrently, Gene Set Enrichment Analysis (GSEA) was applied, establishing a strong link between elevated levels of ERBB3 isoforms and critical oncogenic pathways, including DNA repair and androgen response. RT-PCR analysis targeting the exon 21-23 and exon 23 regions of ERBB3 confirmed its heightened expression in tumor tissues, underscoring the significance of alternative splicing and exon utilization in cancer development. These findings elucidate the diverse impacts of ERBB3 isoforms on RCC, suggesting their potential as diagnostic markers and therapeutic targets. This study emphasizes the need for further exploration into the specific roles of these isoforms, which could inform more personalized and effective treatment modalities for renal clear cell carcinoma.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Humanos , Carcinoma de Células Renais/genética , Neoplasias Renais/genética , Perfilação da Expressão Gênica , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Genômica , Regulação Neoplásica da Expressão Gênica/genética , Microambiente Tumoral , Receptor ErbB-3/genética , Receptor ErbB-3/metabolismo
3.
Clin Genitourin Cancer ; 15(5): e819-e825, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28549862

RESUMO

BACKGROUND: We evaluated the clinicopathologic characteristics and prognosis of Xp11.2 translocation (Xp11.2t) renal cell carcinoma (RCC) from a multicenter study and compare them with clear-cell RCC using a propensity score matching analysis. PATIENTS AND METHODS: Between 2004 and 2013, 8384 consecutive patients from 7 institutions who were diagnosed with RCC were reviewed, and the pathologically confirmed Xp11.2t cases were enrolled. The oncological outcomes of Xp11.2t were compared with those of clear-cell RCC by selecting matched cases using 1:3 propensity score matching methods in a precollected clear-cell RCC data set from our hospital. The patients were divided into 2 subgroups on the basis of age of onset, either before (early) or after (late) 45 years old. RESULTS: Xp11.2t was found in 61 cases, corresponding to 0.72% of RCC cases for the 10 years. The mean age was 38.2 ± 19.4 years, and the mean tumor size was 6.2 ± 3.9 cm. The Xp11.2t cases were at more advanced stages and showed tendencies to involve lymph nodes at diagnosis. After the matching, there were no significant differences in recurrence-free and overall survival compared with clear-cell RCC. The age of incidence for Xp11.2t had a bimodal distribution, which was most common in the 30s and smaller peak in the 60s. Xp11.2t corresponded to a significantly worse prognosis for overall survival in late onset (after 45 years) subgroup (P = .038; hazard ratio, 3.199; 95% confidence interval, 1.065-9.609). CONCLUSION: This neoplasm has more aggressive clinicopathologic features at diagnosis. In older patients with onset age > 45 years, Xp11.2t showed a significantly worse prognosis than clear-cell RCC.


Assuntos
Carcinoma de Células Renais/genética , Cromossomos Humanos X/genética , Neoplasias Renais/genética , Translocação Genética , Adulto , Fatores Etários , Idade de Início , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Pontuação de Propensão , Análise de Sobrevida , Adulto Jovem
4.
Cancer Res Treat ; 49(4): 1057-1064, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28161937

RESUMO

PURPOSE: Few studies have addressed gonadal and sexual dysfunctions in childhood cancer survivors. We evaluated the prevalence rates and risk factors for gonadal failure among adolescent/young adult childhood cancer survivors and their sexual function. MATERIALS AND METHODS: Subjects were childhood cancer survivors aged 15-29 years who had completed therapy more than 2 years ago. Demographic and medical characteristics were obtained from the patients' medical records. In addition, hormonal evaluation and semen analysis were performed and sexual function was evaluated via questionnaire. RESULTS: The study included 105 survivors (57 males, 48 females), of which 61 were adults (age > 19 years) and 44 were adolescents. In both males and females, the proportion of survivors with low sex hormone levels did not differ among age groups or follow-up period. Thirteen female subjects (27.1%) needed sex hormone replacement, while five males subjects (8.8%) were suspected of having hypogonadism, but none were receiving sex hormone replacement. Of 27 semen samples, 14 showed azospermia or oligospermia. The proportion of normospermia was lower in the high cyclophosphamide equivalent dose (CED) group (CED ≥ 8,000 mg/m2) than the low CED group (27.3% vs. 62.5%, p=0.047). Among adults, none were married and only 10 men (35.7%) and eight women (34.3%) were in a romantic relationship. Though a significant proportion (12.0% of males and 5.3% of females) of adolescent survivors had experienced sexual activity, 13.6% had not experienced sex education. CONCLUSION: The childhood cancer survivors in this study showed a high prevalence of gonadal/sexual dysfunction; accordingly, proper strategies are needed to manage these complications.


Assuntos
Sobreviventes de Câncer , Gônadas/fisiopatologia , Neoplasias/complicações , Neoplasias/epidemiologia , Disfunções Sexuais Fisiológicas/epidemiologia , Disfunções Sexuais Fisiológicas/etiologia , Adolescente , Adulto , Fatores Etários , Terapia Combinada/efeitos adversos , Terapia Combinada/métodos , Feminino , Hormônios Esteroides Gonadais , Gônadas/metabolismo , Inquéritos Epidemiológicos , Humanos , Masculino , Neoplasias/terapia , Prevalência , Fatores de Risco , Análise do Sêmen , Comportamento Sexual , Disfunções Sexuais Fisiológicas/metabolismo , Adulto Jovem
5.
Int J Urol ; 23(6): 465-71, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27021929

RESUMO

OBJECTIVES: To describe the clinical features of renal cell carcinoma arising in end-stage renal disease and to compare survival outcomes after definitive treatment with non-end-stage renal disease renal cell carcinoma. METHODS: Data of 181 consecutive patients with end-stage renal disease renal cell carcinoma who had received surgical treatment between 1995 and 2011 at seven institutions were reviewed. Data of 362 non-end-stage renal disease renal cell carcinoma patients matched for clinicopathological parameters who received surgery at Asan Medical Center during the same study period were also reviewed. The two study groups were compared with respect to recurrence-free, cancer-specific, and overall survival by Kaplan-Meier analysis and Cox proportional hazards method. Mean follow up was 40 ± 34.2 months after surgery. RESULTS: Median tumor size was 2.5 cm (interquartile range 1.5-4.5), and pathological tumor stage was T1 in 78%, T2 in 7.1% and T3 and higher in 14.9%. Tumor histological type was clear cell in 63%, papillary in 17%, chromophobe in 5%, clear cell papillary in 2.8% and acquired cystic disease-related in 6.1%. Compared with the controls, the stage-specific 5-year recurrence-free survival was similar (87.6 vs 88.5%), but cancer-specific and overall survival was significantly lower. On multivariate analysis, end-stage renal disease renal cell carcinoma was not a predictor for recurrence-free survival, but a significant predictor for cancer-specific (hazard ratio 4.07, 95% confidence interval 2.08-7.94) and overall survival (hazard ratio 3.13, 95% confidence interval 1.66-5.96). CONCLUSIONS: End-stage renal disease renal cell carcinoma seems to have comparable stage-specific recurrence-free, but poorer cancer-specific and overall survival compared with non-end-stage renal disease renal cell carcinoma. As patients with end-stage renal disease are a high-risk population for renal cell carcinoma, routine radiographic screening to improve survival outcomes should be further investigated.


Assuntos
Carcinoma de Células Renais/terapia , Falência Renal Crônica/terapia , Neoplasias Renais/terapia , Intervalo Livre de Doença , Humanos , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Nefrectomia , Prognóstico , Estudos Retrospectivos
6.
Korean J Gastroenterol ; 66(6): 345-9, 2015 Dec.
Artigo em Coreano | MEDLINE | ID: mdl-26691192

RESUMO

Gastrointestinal tuberculosis that is not an unusual form of extrapulmonary tuberculosis and it is usually associated with immunocompromised condition that may present with clinical symptoms including fever, weight loss or pain. Terminal ileum and cecum are the common sites of involvement, but involvement of the stomach is rare. Furthermore, synchronous tuberculosis involving both the stomach and lower gastrointestinal tract has been reported in very few cases. Herein, we report a case of incidentally detected synchronous tuberculosis involving both the stomach and terminal ileum that was successfully treated by antituberculosis therapy in an asymptomatic immunocompetent patient.


Assuntos
Tuberculose Gastrointestinal/diagnóstico , Adulto , Antituberculosos/uso terapêutico , Infecções Assintomáticas , Quimioterapia Combinada , Endoscopia do Sistema Digestório , Feminino , Humanos , Intestino Delgado/patologia , Estômago/patologia , Tomografia Computadorizada por Raios X , Tuberculose Gastrointestinal/tratamento farmacológico
7.
Clin Genitourin Cancer ; 12(4): 225-33, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24630778

RESUMO

Rates of renal cell carcinoma (RCC) morbidity and mortality vary widely by geography, with increasing incidence in most countries. Interestingly, RCC incidence is significantly lower in Asian countries relative to other regions, which is attributed to environmental and genetic influences. Additionally, it has been demonstrated that different ethnic groups differ in their RCC characteristics which might lead to varied responses to therapy. In this review, physicians drawn from countries across the Asia-Pacific region--China, Japan, Taiwan, Republic of Korea, and Australia--take all available data into consideration to develop the first opinion statement on treatment of advanced RCC in the region. We have sought to determine what factors influence treatment patterns and availability of therapeutic agents in our respective countries, discussed whether these factors are fully justified or should be modified, and considered what additional efforts should be undertaken to optimize treatment outcomes in RCC. Additionally, we have addressed the limitations on treatment of RCC in the region, capturing the restrictive situations of targeted therapy use in the Asia-Pacific region, mainly because of drug availability and treatment reimbursement. Often this illustrates the gap between Western and regional or even among local guidelines, the opinions of leading physicians regarding the treatment, and the realistic access to agents for most patients. Proposals made in this document are based on clinical experience and data from clinical trials of RCC therapies in which Asian patients have been included.


Assuntos
Antineoplásicos/uso terapêutico , Carcinoma de Células Renais/tratamento farmacológico , Neoplasias Renais/tratamento farmacológico , Terapia de Alvo Molecular , Proteínas de Neoplasias/antagonistas & inibidores , Austrália , Carcinoma de Células Renais/metabolismo , China , Prova Pericial , Humanos , Japão , Neoplasias Renais/metabolismo , Prognóstico , República da Coreia , Taiwan
8.
J Neurogastroenterol Motil ; 19(1): 70-7, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23350050

RESUMO

BACKGROUND/AIMS: Researches on the potential risk factors for the development of erosive esophagitis have been conducted extensively, however, the results are conflicting. The aim of this multicenter study was to identify the prevalence rate and risk factors of erosive esophagitis and their interactions with residency status. METHODS: A total of 4,023 eligible subjects at 8 tertiary health care centers were evaluated using questionnaires, laboratory tests and endoscopy. Univariate and multivariate analyses were conducted to identify independent risk factors for erosive esophagitis. RESULTS: The prevalence rate of reflux esophagitis was 8.8%. Los Angeles grade A was common type of erosive esophagitis. Residence in a large urban areas was negatively associated with the development of erosive esophagitis (OR, 0.60; 95% CI, 0.40-0.90). The high body mass index (≥ 25 kg/m(2)) was more frequent in residents of small and medium-sized cities than those in big cities (38.8% and 26.9%, respectively; P < 0.001). Seronegativity of Helicobacter pylori was associated with increased erosive esophagitis (OR, 1.91; 95% CI, 1.48-2.46). Triglyceride ≥ 150 mg/dL (OR, 1.65; 95% CI, 1.08-2.07), fasting glucose level ≥ 126 mg/dL (OR, 1.73; 95% CI, 1.06-2.81), and hiatal hernia (OR, 3.11; 95% CI, 1.87-5.16) were also associated with erosive esophagitis. CONCLUSIONS: The prevalence rate of erosive esophagitis and its risk factors in this study were similar to the result of 8.0% of nationwide study in 2006. Residency and obesity are more important independent risk factors than H. pylori infection status for development of erosive esophagitis in Korea. These results suggest that the prevalence rate of erosive esophagitis in Korea might not increase as in the Western countries.

9.
Clin Endosc ; 45(3): 202-4, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22977802

RESUMO

Non-traumatic intramural duodenal hematoma (IDH) with duodenal obstruction caused by acute pancreatitis is rare. Most patients with non-extensive hematoma show improvement with non-operative treatments. Percutaneous drainage or surgery may be necessary in cases with suspected malignancy, perforation, or intestinal tract obstruction. We present a case of IDH caused by acute pancreatitis that led to obstruction of the duodenum and an experience of successful endoscopic decompression of the hematoma.

10.
J Infect Chemother ; 18(6): 951-4, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22398882

RESUMO

Although tuberculosis can affect various organs and tissues, the lung is the site most commonly involved. Extrapulmonary tuberculosis (EPTB) involves relatively inaccessible and variable sites and is consequently often overlooked by clinicians. The ear is a notably very rare site of EPTB, and the diagnosis is difficult because of the variable and confusing signs and symptoms. To our knowledge, this is the first case in which tuberculous otitis media and endobronchial tuberculosis coexisted.


Assuntos
Mycobacterium tuberculosis/isolamento & purificação , Otite Média/diagnóstico , Tuberculose Pulmonar/diagnóstico , Tuberculose/diagnóstico , Antituberculosos , Biópsia , Brônquios/microbiologia , Broncoscopia , Orelha Média/microbiologia , Orelha Média/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Otite Média/microbiologia , Radiografia Torácica , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Tuberculose/microbiologia , Tuberculose Pulmonar/microbiologia
11.
Korean J Gastroenterol ; 54(2): 117-22, 2009 Aug.
Artigo em Coreano | MEDLINE | ID: mdl-19696539

RESUMO

Cytomegalovirus (CMV) is an important cause of opportunistic infection in immunocompromised patients. CMV infection occurs as a result of the cell-mediated immunity change in lymphoma patients. Although CMV can cause ulceration anywhere in the gastrointestinal (GI) tract in immunocompromised patients, only a few case reports about CMV GI infection in malignant lymphoma have been documented in literature. Furthermore, it was rare that CMV gastric ulcer with massive bleeding presented as an initial manifestation in a patient who has been not diagnosed lymphoma. We report a case of CMV induced gastric ulcer as an initial manifestation in patient with Hodgkins disease.


Assuntos
Infecções por Citomegalovirus/diagnóstico , Doença de Hodgkin/diagnóstico , Úlcera Gástrica/diagnóstico , Idoso , Citomegalovirus , Infecções por Citomegalovirus/patologia , Diagnóstico Diferencial , Gastroscopia , Doença de Hodgkin/complicações , Humanos , Masculino , Úlcera Gástrica/patologia , Úlcera Gástrica/virologia , Tomografia Computadorizada por Raios X
12.
Int J Urol ; 13(11): 1451-3, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17083403

RESUMO

Gastrointestinal stromal tumor (GIST) is a recently described mesenchymal tumor that can develop in any portion of the gastrointestinal tract. The occurrence of a GIST in the urinary tract is rare, but GIST can present as tumor of the urinary tract or invade the urinary tract. This is the first reported case of GIST in the ileal neobladder, which presented as a submucosal tumor. The patient underwent an open exploration and partial resection of the neobladder pouch.


Assuntos
Tumores do Estroma Gastrointestinal/cirurgia , Coletores de Urina , Antígenos CD34/análise , Tumores do Estroma Gastrointestinal/metabolismo , Tumores do Estroma Gastrointestinal/patologia , Humanos , Íleo/cirurgia , Imuno-Histoquímica , Mucosa Intestinal/química , Mucosa Intestinal/patologia , Mucosa Intestinal/cirurgia , Masculino , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas c-kit/análise
13.
Rev. paul. pediatr ; 11(1): 148-52, mar. 1993. tab
Artigo em Português | LILACS | ID: lil-224443

RESUMO

Com o objetivo de se estabelecerem diagnósticos médico, psicológico e fonoaudiológico, estudaram-se 10 crianças (5m, 5f), cuja faixa etária se situava entre 7 anos e 5 meses e 11 anos e 9 meses, as quais compunham uma "classe especial" da rede estadual de ensino. Foram submetidas a anamneses médica e psicológica, a exame físico completo, a testes de Snellen para acuidade visual, de Matrizes Progressivas de Raven, ao teste gestáltico visomotor de Bender, de Escala de Indicadores Emocionais de Koppitz, avaliaçöes do sistema motor oral, das funçöes de respiraçäo, sopro, mastigaçäo, sucçäo e deglutiçäo e daquelas que säo básicas para a aquisiçäo de linguagem, e a exame de audiometria tonal limiar. Identificaram-se como fatores relacionados à Deficiência Mental (DM): idade materna superior a 35 anos à época da gestaçäo, em quatro dos seis casos; alta frequência de hipertensäo, alcoolismo, câncer e retardamento mental na mäe e em outros familiares...


Assuntos
Humanos , Feminino , Masculino , Criança , Deficiência Intelectual/diagnóstico , Educação Inclusiva , Equipe de Assistência ao Paciente , Fatores Socioeconômicos , Deficiência Intelectual/etiologia
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