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Objectives@#Schizophrenia (SPR) is the most devastating mental illness that causes severe deterioration in social and occupational functioning, but, the aetiology remains unknown. The aim was to identify patterns of association and segregation for genetic variants and to identify the genes and signalling pathways that determine the risk of developing SPR, through a family-based Genome-wide association study. @*Methods@#We have recruited 27 probands(with SPR) with their parents and siblings whenever possible. DNA was extracted from blood sampling of 58 individuals in 27 families and analysed in an Illumina core exome single nucleotide polymorphism (SNP) array. A family-based association test was used to derive SNP association values across all chromosomes. @*Results@#Although none of the final 800,000 SNPs reached the genome-wide significant threshold of 5×10-8 , the most significant 3 SNPs were within the 10-5 -10-7 . @*Conclusions@#This confirms that SPR is not monogenic but results as a consequence of interactions between multiple host genes and possibly also environmental factors. The present approach provides novel insights into the mechanisms underlying SPR and raises the possibility of identifying individuals at risk of acquiring this condition. In this study, several possible susceptibility genes have been identified that are linked to a range of different pathways, which could reflect the mind-body interaction that is included in the psychiatric genomics consortium.
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Leiomyoma is a benign smooth muscle tumor that may occur throughout the entire digestive tract. It occurs more frequently in the stomach and the small intestine, but is rarely seen in the large intestine. Here, we report two cases of colon leiomyoma mimicking the appearance of colon polyps that were found incidentally. They were simultaneously diagnosed and treated by endoscopic mucosal resection. Careful and thorough endoscopic examination is required for differential diagnosis of polyps that may actually be subepithelial tumors.
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BACKGROUND: Previous randomized controlled trials of revascularization for atherosclerotic renal artery stenosis (ARAS) were not successful. We investigated the effects of percutaneous transluminal angioplasty with stent insertion (PTA/S) on kidney function and blood pressure (BP) control in patients with ARAS. METHODS: From 2000 to 2017, 47 subjects who underwent PTA/S for ARAS were identified. A high-risk group was defined, composed of patients having one or more of the following clinical presentations: pulmonary edema, refractory hypertension, and rapid deterioration of kidney function. Subjects who met the criteria of ‘kidney function improvement’ or ‘hypertension improvement’ after PTA/S were classified as responders. RESULTS: Twenty-one (44.7%) subjects were classified into the high-risk group. Two subjects (8.0%) in the low-risk group (n = 25) and 5 subjects (27.8%) in the high-risk group (n = 18) showed improvement in kidney function after PTA/S (P = 0.110). In patients with rapid decline of kidney function, estimated glomerular filtration rate improved from 28 (interquartile range [IQR], 10–45) mL/min/1.73 m² to 41 (IQR, 16–67) mL/min/1.73 m² at 4 months after PTA/S, although the difference was not significant (P = 0.084). Regarding BP control, 9 (36.0%) and 14 (77.8%) subjects showed improvement after PTA/S in the low- (n = 25) and high-risk (n = 18) groups, respectively (P = 0.007). In patients with refractory hypertension, the systolic BP dropped from 157 (IQR, 150–164) mmHg to 140 (IQR, 131–148) mmHg at 4 months after PTA/S (P = 0.005). Twenty-five subjects were defined as responders and comprised a significant proportion of the high-risk group (P = 0.004). CONCLUSION: PTA/S might improve BP control and kidney function in patients with ARAS presenting with high-risk clinical features. The optimal application of PTA/S should be based on individual assessment of the clinical significance of renal artery stenosis.
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Humanos , Angioplastia , Pressão Sanguínea , Taxa de Filtração Glomerular , Hipertensão , Rim , Edema Pulmonar , Obstrução da Artéria Renal , Artéria Renal , StentsRESUMO
Diuretic therapy for the treatment of edema in patients with end-stage renal disease (ESRD) is unsatisfactory, and a combination of thiazide and loop diuretics may produce better clinical effects. To evaluate the influence of thiazide on loop diuretic therapy for ESRD, we performed a crossover study of furosemide versus hydrochlorothiazide plus furosemide treatment. The diuretic effects of furosemide (160 mg i.v.) alone versus a combination of hydrochlorothiazide (100 mg p.o.) and furosemide were studied in ten ESRD patients with proteinuria greater than 1 g/day. The diuretic effects were compared for 24 h urine volume and electrolyte excretion. To detect the influence of thiazide that may have been obscured in the widely dispersed data, pharmacodynamic analysis of urine furosemide excretion rate versus fractional excretion of sodium (FeNa) was also performed using mixed-effect modeling. Combination therapy was not significantly different from furosemide monotherapy in terms of 24 h urine volume, chloride, or sodium excretion. Hydrochlorothiazide was not a significant covariate in the furosemide effect for the pharmacodynamic model. In patients with ESRD and severe proteinuria (>1,000 mg/day), the combination of hydrochlorothiazide with furosemide therapy did not increase the diuretic effect of furosemide.
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Humanos , Estudos Cross-Over , Diuréticos , Edema , Furosemida , Hidroclorotiazida , Falência Renal Crônica , Proteinúria , Sódio , Inibidores de Simportadores de Cloreto de Sódio e PotássioRESUMO
Warfarin skin necrosis (WSN) is an infrequent complication of warfarin treatment and is characterized by painful ulcerative skin lesions that appear a few days after the start of warfarin treatment. Calciphylaxis also appears as painful skin lesions caused by tissue injury resulting from localized ischemia caused by calcification of small- to medium-sized vessels in patients with end-stage renal disease. We report on a patient who presented with painful skin ulcers on the lower extremities after the administration of warfarin after a valve operation. Calciphylaxis was considered first because of the host factors; eventually, the skin lesions were diagnosed as WSN by biopsy. The skin lesions improved after warfarin discontinuation and short-term steroid therapy. Most patients with end-stage renal disease have some form of cardiovascular disease and some require temporary or continual warfarin treatment. It is important to differentiate between WSN and calciphylaxis in patients with painful skin lesions.
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Humanos , Biópsia , Calciofilaxia , Doenças Cardiovasculares , Hiperparatireoidismo Secundário , Isquemia , Falência Renal Crônica , Extremidade Inferior , Necrose , Diálise Peritoneal , Úlcera Cutânea , Pele , Úlcera , VarfarinaRESUMO
BACKGROUND: Advances in immunosuppression after kidney transplantation have decreased the influence of early acute rejection (EAR) on graft survival. Several studies have suggested that late acute rejection (LAR) has a poorer effect on long-term graft survival than EAR. We investigated whether the timing of acute rejection (AR) influences graft survival, and analyzed the risk factors for EAR and LAR. METHODS: We performed a retrospective cohort study involving 709 patients who underwent kidney transplantation between 2000 and 2009 at the Samsung Medical Center, Seoul, Korea. Patients were divided into three groups: no AR, EAR, and LAR. EAR and LAR were defined as rejection before 1 year and after 1 year, respectively. Differences in graft survival between the three groups and risk factors of graft failure were analyzed. RESULTS: Of the 709 patients, 198 (30%) had biopsy-proven AR [EAR=152 patients (77%); LAR=46 patients (23%)]. A total of 65 transplants were lost. The 5-year graft survival rates were 97%, 89%, and 85% for patients with no AR, EAR, and LAR, respectively. These differences were significant (P<0.001 for both by log-rank test). In time-dependent Cox regression analysis, EAR (hazards ratio, 3.37; 95% confidence interval, 1.90-5.99) and LAR (hazards ratio, 5.32; 95% confidence interval, 2.65-10.69) were significantly related to graft failure. When we set LAR as standard and compared it with EAR, there was no statistical difference between EAR and LAR (P=0.21). CONCLUSION: AR, regardless of its timing, significantly worsened graft survival. Treatments to reduce the incidence of AR and improve prognosis are needed.
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Humanos , Estudos de Coortes , Orelha , Sobrevivência de Enxerto , Terapia de Imunossupressão , Incidência , Transplante de Rim , Coreia (Geográfico) , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Seul , TransplantesRESUMO
Continuous erythropoietin receptor activator (CERA) is an erythropoietin with a long-half life. This study investigated the efficacy of CERA for correcting anemia in Korean patients on dialysis. Patients (> or =18 yr) who were not receiving any ESAs for more than 8 weeks were randomly assigned to either intravenous CERA once every 2 weeks (n=39) or epoetin beta thrice-weekly (n=41) during a 24-week correction phase. Hemoglobin (Hb) response was defined as increase of Hb by at least 1 g/dL and Hb> or =11 g/dL without red blood cell (RBC) transfusion. Median dialysis duration was 1.7 (0.3-20.8) and 1.6 (0.4-13.8) yr in CERA and epoetin beta group, respectively. Hemoglobin response rate of CERA was 79.5% (95% confidence interval [CI], 63.5-90.7). As the lower limit of 95% CI was higher than pre-specified 60% response rate, it can be concluded that CERA corrected anemia (P<0.05). Hb response rate of epoetin beta was 87.8% (95% CI, 73.8-95.9) (P=0.37). Median time to response was 12 weeks in CERA and 10.3 weeks in epoetin beta (P=0.03). It is suggested that once every 2 weeks administration of CERA is effective for correcting anemia in Korean patients on long-term hemodialysis with longer time-to-response than thrice weekly epoetin beta. (ClinicalTrials.gov registry No. NCT00546481)
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Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Anemia/tratamento farmacológico , Eritropoetina/uso terapêutico , Hemoglobinas/análise , Polietilenoglicóis/uso terapêutico , Qualidade de Vida , Proteínas Recombinantes/uso terapêutico , Diálise Renal , Insuficiência Renal Crônica/tratamento farmacológico , República da CoreiaRESUMO
Fanconi syndrome (FS) is a rare condition that is characterized by defects in the proximal tubular function. A 48-year-old woman was admitted for evaluation of proteinuria. The patient showed normal anion gap acidosis, normoglycemic glycosuria, hypophosphatemia, and hypouricemia. Thus, her condition was compatible with FS. The M peak was found behind the beta globulin region in urine protein electrophoresis. Upon bone marrow examination, we found that 24% of cells were CD138+ plasma cells with kappa restriction. From a kidney biopsy, we found crystalline inclusions within proximal tubular epithelial cells. Thereafter, she was diagnosed with FS accompanied by multiple myeloma. The patient received chemotherapy and autologous stem cell transplantation, and obtained very good partial hematologic response. However, proximal tubular dysfunction was persistent until 1 year after autologous stem cell transplantation. In short, we report a case of FS accompanied by multiple myeloma, demonstrating crystalline inclusion in proximal tubular cells on kidney biopsy.
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Feminino , Humanos , Pessoa de Meia-Idade , Equilíbrio Ácido-Base , Acidose , beta-Globulinas , Biópsia , Exame de Medula Óssea , Cristalinas , Tratamento Farmacológico , Eletroforese , Células Epiteliais , Síndrome de Fanconi , Glicosúria , Hipofosfatemia , Cadeias kappa de Imunoglobulina , Rim , Mieloma Múltiplo , Plasmócitos , Proteinúria , Transplante de Células-TroncoRESUMO
Nontuberculous mycobacteria (NTM) infections in kidney transplant recipients (KTR) are rare. We describe here a 52-year-old female with vertebral osteomyelitis caused by NTM, who received a kidney transplant 5 years earlier. She had been diagnosed with NTM lung disease 1 year prior. NTM therapy was delayed due to esophageal candidiasis. Mycobacterium intracellulare was isolated from sputum and bone tissue. The pattern of drug-susceptibility testing in both specimens was identical. NTM vertebral osteomyelitis due to direct inoculation is rare, and was in this case a disseminated NTM disease. The subjective symptoms resolved after 4 months of NTM treatment. This suggests that early NTM treatment is important for KTRs who have NTM disease during immunosuppressive therapy.
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Feminino , Humanos , Osso e Ossos , Candidíase , Rim , Transplante de Rim , Pulmão , Pneumopatias , Complexo Mycobacterium avium , Micobactérias não Tuberculosas , Osteomielite , Escarro , TransplantesRESUMO
The purpose of the present study was to evaluate the difference in BMI pattern between patients with persistent new-onset diabetes after transplantation (P-NODAT) and without new-onset diabetes after transplantation (N-NODAT) in a retrospective matched case-control (1:3) analysis. Thirty-six patients who developed P-NODAT were identified among 186 adult renal transplant recipients with no evidence of pretransplant diabetes mellitus who underwent kidney transplantation from September 1997 to March 2008 and were treated with a triple regimen including tacrolimus. The controls were selected to match the patients for pretransplant BMI, age at transplantation (+/- 5 yr), and date of transplantation (+/- 12 months). Finally, 20 P-NODAT patients and 60 N-NODAT patients were selected. The pre- and posttransplant BMI data were collected every 16 weeks for up to 80 weeks. The clinical characteristics did not differ between the P-NODAT group and N-NODAT group. BMI increased faster in the P-NODAT group than in the N-NODAT group. The mixed-model analysis showed that patients with P-NODAT exhibited a faster increase in BMI. P-NODAT is associated with posttransplant weight gain. The risk of P-NODAT should be considered in patients with rapid weight gain after transplantation.
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Massa Corporal , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/etiologia , Rejeição de Enxerto/prevenção & controle , Imunossupressores/uso terapêutico , Transplante de Rim , Estudos Retrospectivos , Tacrolimo/uso terapêutico , Fatores de Tempo , Aumento de PesoRESUMO
Idiopathic membranous nephropathy is a common cause of nephrotic syndrome, and has been reported as a cause of idiopathic primary glomerulonephropathy in up to 90% of patients. However, the treatment options remain controversial. We report two cases of idiopathic membranous nephropathy that were treated with rituximab. A 54-year-old man and a 64-year old man were admitted for rituximab therapy. They had previously been treated with combinations of immunosuppressive agents including cyclophosphamide, cyclosporine, mycophenolate, and steroids. However, the patients' heavy proteinuria was not resolved. Both patients received rituximab therapy, 2 weeks apart. After several months of follow-up and a second round of rituximab treatment for each patient, their proteinuria decreased and partial remission of disease was achieved in both patients.
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Humanos , Pessoa de Meia-Idade , Anticorpos Monoclonais Murinos , Ciclofosfamida , Ciclosporina , Seguimentos , Glomerulonefrite Membranosa , Imunossupressores , Síndrome Nefrótica , Proteinúria , Esteroides , RituximabRESUMO
Splenic artery pseudoaneurysm is a rare, but potentially lethal, vascular lesion. The mortality rate may be 75-90%, if the aneurysm ruptures. The risk for rupture of an untreated splenic artery pseudoaneurysm is about 37%. Hence, early diagnosis and prompt surgical intervention are vital to improve survival. However, vague symptoms make early diagnosis difficult. We report here a case of a giant splenic artery pseudoaneurysm presenting with acute kidney injury. The patient had been treated previously for infective endocarditis, and after 4 months, acute kidney injury developed. Imaging studies revealed a giant splenic artery pseudoaneurysm. Splenectomy and distal pancreatectomy were performed. After surgery, renal function was improved.
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Humanos , Injúria Renal Aguda , Aneurisma , Falso Aneurisma , Diagnóstico Precoce , Endocardite , Pancreatectomia , Ruptura , Esplenectomia , Artéria EsplênicaRESUMO
Laparoscopic cholecystectomy is the treatment of choice for cholelithiasis. It is used more commonly than open cholecystectomy because of the convenience of a short hospital stay and earlier return to work, and for aesthetic reasons. Nevertheless, there are complications that are encountered more frequently than in open cholecystectomy due to the smaller operating window. Here, we report the case of a 73-year-old woman who underwent a laparoscopic cholecystectomy 15 years earlier and now presented with abrupt abdominal pain. Abdominal computed tomography (CT) revealed a past cholecystectomy with an abscess pocket abutting the abdominal wall, with a stone inside it. Incision and drainage were done and the stone was removed laparoscopically. This case shows that late complications, such as abscess formation due to lost GB stones during laparoscopic cholecystectomy, can occur, even after 15 years.
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Idoso , Feminino , Humanos , Abscesso Abdominal , Dor Abdominal , Parede Abdominal , Abscesso , Colecistectomia , Colecistectomia Laparoscópica , Colelitíase , Drenagem , Tempo de Internação , Retorno ao TrabalhoRESUMO
Splenic artery pseudoaneurysm is a rare, but potentially lethal, vascular lesion. The mortality rate may be 75-90%, if the aneurysm ruptures. The risk for rupture of an untreated splenic artery pseudoaneurysm is about 37%. Hence, early diagnosis and prompt surgical intervention are vital to improve survival. However, vague symptoms make early diagnosis difficult. We report here a case of a giant splenic artery pseudoaneurysm presenting with acute kidney injury. The patient had been treated previously for infective endocarditis, and after 4 months, acute kidney injury developed. Imaging studies revealed a giant splenic artery pseudoaneurysm. Splenectomy and distal pancreatectomy were performed. After surgery, renal function was improved.
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Humanos , Injúria Renal Aguda , Aneurisma , Falso Aneurisma , Diagnóstico Precoce , Endocardite , Pancreatectomia , Ruptura , Esplenectomia , Artéria EsplênicaRESUMO
BACKGROUND: The purpose of this study was to evaluate the incidence of contrast-induced nephropathy (CIN), and the effect of intravenous albumin for prophylaxis of CIN in patients with liver cirrhosis (LC) and chronic kidney disease (CKD). METHODS: We conducted a retrospective study of 81 subjects with LC and CKD (estimated glomerular filtration rate (eGFR) or =25% or > or =0.5mg/dL in serum creatinine level. RESULTS: Overall, CIN developed in three patients (3.7%). Of the 81 subjects, 43 received sodium bicarbonate solution and 38 received albumin. Both groups were comparable with regard to age, sex, diabetes mellitus, and baseline eGFR. The albumin group showed a significantly poorer liver function profile. CIN incidence did not differ significantly between the groups: it occurred in one (2.3%) of the 43 subjects receiving sodium bicarbonate and two (5.3%) of the 38 subjects receiving albumin (P=0.6). However, the albumin group showed a significantly smaller increase in body weight (P=0.03). CONCLUSION: The incidence of CIN in patients with LC and CKD undergoing contrast-enhanced CT after preventive measures was relatively low. The incidence of CIN was not significantly different between sodium bicarbonate and albumin groups.
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Humanos , Peso Corporal , Creatinina , Diabetes Mellitus , Taxa de Filtração Glomerular , Incidência , Fígado , Cirrose Hepática , Insuficiência Renal Crônica , Estudos Retrospectivos , Bicarbonato de SódioRESUMO
BACKGROUND/AIMS: Endoscopic submucosal dissection (ESD) is accepted as a standard treatment of early gastric cancer (EGC) and gastric adenoma. Occasionally, tumorous lesion is not found and pathologic discrepancies can occur after ESD. The aim of this study was to analyze the factors affecting the negative pathologic results after ESD. METHODS: We retrospectively reviewed the data from all patients with gastric neoplasm (276 EGC and 516 gastric adenomas) who were treated with ESD during past 3 years and enrolled the patients who had negative pathologic results. RESULTS: Out of 792 patients treated with ESD, 27 patients (3.4%) were eligible for inclusion. Among the 27 patients, factors affecting the negative pathologic results were, most commonly, the focal lesion (n=13, 48.2%) which was small enough to be removed completely during pre-ESD biopsy, followed by pathologic discrepancies (n=11, 40.7%) between pathologists and lastly the operator factor (n=3, 11.1%) dissecting incorrect lesions. Of the focal lesions, the initial pathologic diagnoses were adenocarcinoma in 11 cases (84.6%). In cases with pathologic discrepancies, all the pretreatment diagnoses were adenoma with low grade dysplasia. In cases caused by operator factors, intestinal metaplasia was accompanied by elevated adenoma in all cases. CONCLUSIONS: To decrease negative pathologic results after ESD, an endoscopist should perform ESD after sufficient communication with pathologists, especially for adenoma with low grade dysplasia, and choose correct lesion, especially located at the antrum and associated with intestinal metaplasia. The possibility of total removal of small lesions even by forcep biopsy should be considered.
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Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adenocarcinoma/diagnóstico , Dissecação , Mucosa Gástrica/patologia , Gastroscopia , Estudos Retrospectivos , Neoplasias Gástricas/diagnósticoRESUMO
PURPOSE: Urinary angiotensinogen (AGT) has been reported as an important marker reflecting the activity of intrarenal renin-angiotensin system (RAS) in chronic glomerulonephritis patients. We investigated urinary AGT excretion and intrarenal AGT expression in patients with minimal change disease (MCD). METHODS: In 20 patients with biopsy-proven MCD, urinary and plasma AGT was measured using a sandwich ELISA and intrarenal AGT expression was measured with immunohistochemistry. Urine samples from normal healthy volunteers and patients with biopsy-proven thin basement membrane disease (TBM) were used as control groups. RESULTS: MCD patients showed a wide range of natural logarithm of the urinary AGT/creatinine [ln (urinary AGT/Cr)] and the ln (urinary AGT/Cr) was higher in MCD patients compared with normal controls and TBM controls (normal control vs. TBM vs. MCD, 1.2+/-0.25 vs. 0.9+/-0.34 vs. 3.2+/-0.40). Intrarenal AGT expression was diverse in MCD patients (intrarenal AGT, arbitrary unit, 27.39-78.52 in TBM, 0.00-145.80 in MCD). Ln (urinary AGT/Cr) did not show a direct correlation with intrarenal AGT expression, plasma AGT, or urinary protein/creatinine ratio. CONCLUSION: Urinary AGT excretion and intrarenal AGT expression are enhanced in some MCD patients, suggesting that intrarenal RAS is activated in these patients.
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Humanos , Angiotensinogênio , Membrana Basal , Distrofias Hereditárias da Córnea , Ensaio de Imunoadsorção Enzimática , Glomerulonefrite , Imuno-Histoquímica , Nefrose Lipoide , Plasma , Proteinúria , Sistema Renina-AngiotensinaRESUMO
No abstract available.
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No abstract available.
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A 75-year-old man with mild renal impairment was started on sunitinib for a metastatic gastrointestinal stromal tumor. After 7 months of this therapy, proteinuria became aggravated. Serum creatinine concentration was increased from 1.34 to 2.57 mg/dL 24 months after sunitinib administration. Hematologic features of thrombotic microangiopathy (TMA) were absent. Renal histology revealed endothelial swelling and plasmatic insudation of the glomeruli. Proteinuria and renal function improved after discontinuation of sunitinib. Our experience suggests that TMA associated with sunitinib can be diverse in onset and severity, and that the hematologic features of TMA may be absent.