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1.
Int J Urol ; 28(12): 1240-1246, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34467590

RESUMO

OBJECTIVES: To investigate the association between duration of consecutive presence of decoy cells on urine cytology and BK virus nephropathy after kidney transplantation. METHODS: In total, 121 kidney transplant recipients were retrospectively evaluated. The best duration of consecutive presence of decoy cells that could be used to predict BK virus nephropathy was analyzed using the area under the curve for each duration, and recipients were divided into two groups based on the best predictive performance. The effectiveness of SV40 immunostaining on urinary cytology was also analyzed. RESULTS: In total, 2534 urine specimens as well as SV40 immunostaining in 2241 urine specimens were analyzed. Six consecutive months of decoy cell positivity had the best predictive performance for BK virus nephropathy (area under the curve = 0.832). The incidence of BK virus nephropathy in recipients with positive decoy cells for 6 months or more consecutive months (5/44) was significantly higher than in those who had positive decoy cells for less than 6 months (0/77; P = 0.005). Decoy cell positivity had a sensitivity, specificity, positive predictive value, and negative predictive value for BK virus nephropathy of 100%, 66%, 11%, and 100% respectively. SV40 immunostaining provided slightly better specificity (68%) and positive predictive value (12%). CONCLUSIONS: The detection of decoy cells at 6 months or more on urine cytology had high predictive value for BK virus nephropathy in kidney transplant recipients. SV40 immunostaining on urine cytology added minimal diagnostic accuracy.


Assuntos
Vírus BK , Nefropatias , Transplante de Rim , Infecções por Polyomavirus , Infecções Tumorais por Vírus , Humanos , Nefropatias/diagnóstico , Nefropatias/etiologia , Transplante de Rim/efeitos adversos , Infecções por Polyomavirus/diagnóstico , Infecções por Polyomavirus/epidemiologia , Estudos Retrospectivos , Transplantados , Infecções Tumorais por Vírus/diagnóstico , Infecções Tumorais por Vírus/epidemiologia , Urina
2.
Pediatr Neurosurg ; 56(3): 286-291, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33780955

RESUMO

INTRODUCTION: Sinus pericranii is a vascular anomaly with extra- and intracranial venous connections. Sinus pericranii is categorized into 2 groups according to its contribution to the normal venous circulation. The accessory type sinus pericranii, which does not contribute to the normal major venous circulation, can be managed. Despite several proposed operative maneuvers, a standardized technique is yet to be established to control intraoperative bleeding. CASE PRESENTATION: A 2-week-old neonate underwent examination of a subcutaneous mass in the parieto-occipital region. The subcutaneous mass had a major venous connection to the superior sagittal sinus on ultrasonography. The subcutaneous mass was partially thrombolized on magnetic resonance imaging and was minimally enhanced on computed tomography venography. The subcutaneous mass seemed not to contribute to the normal venous circulation. Surgical removal of the subcutaneous mass was performed due to its increased size at the age of 1 year and 3 months. While subcutaneous mass was detached from the scalp, the major venous connection was manually compressed, and minor venous connections were easily detected. The intraoperative bleeding was controllable. The pathological diagnosis was sinus pericranii. The patient is now followed up in the outpatient clinic. No recurrence was seen 18 months after the surgery. DISCUSSION/CONCLUSION: Intraoperative hemostasis is essential while sinus pericranii is detached from the cranium. Hemostatic agents such as bone wax or absorbable gelatin and heat coagulation seem to be useful. However, complicative hemorrhage concerning to the preceded technique has been also reported. As seen in our case, to detect minor shunting points between the sinus pericranii and the intracranial veins, the major venous connection was manually compressed. Intraoperative manual compression of a major venous connection of sinus pericranii can be an option to manage intraoperative bleeding.


Assuntos
Seio Pericrânio , Criança , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Procedimentos Neurocirúrgicos , Seio Pericrânio/diagnóstico por imagem , Seio Pericrânio/cirurgia , Crânio , Seio Sagital Superior
3.
Acta Med Okayama ; 74(1): 53-58, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32099249

RESUMO

We investigated the feasibility of robotic renal autotransplantation (RAT) in a porcine model to reduce invasiveness of RAT. Five pigs underwent robotic RAT using the da Vinci® robotic system. A robotic left nephrectomy was performed in all cases. Robotic RAT was performed on the left side in all but one case. Four ports were used. In 3 cases, the kidney was taken out through the GelPort® and irrigated on ice with Ringer's solution. In 2 cases, a complete intracorporeal robotic RAT was performed. An end-to-side anastomosis was performed between the renal vein and the external iliac vein and between the renal artery and the external iliac artery. Ureteroneocystostomy was also performed in 2 cases. All cases were performed robotically without open conversion. The median (IQR) console time was 3.1 (0.7) h, and the operative time was 3.8 (1.1) h. The estimated blood loss was 30 (0) ml. The warm ischemia time was 4.0 (0.2) min, and the cold ischemia time was 97 (17) min. Intracorporeal transarterial hypothermic renal perfusion was feasible in the 2 complete intracorporeal robotic RAT cases by using a perfusion catheter through a laparoscopic port. Robotic RAT has the potential to be a new minimally invasive substitute for conventional open surgery.


Assuntos
Transplante de Rim/instrumentação , Procedimentos Cirúrgicos Robóticos/métodos , Animais , Modelos Animais de Doenças , Estudos de Viabilidade , Feminino , Humanos , Laparoscopia/métodos , Suínos
4.
Int J Urol ; 27(12): 1136-1142, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33012030

RESUMO

OBJECTIVES: To analyze the effect and impact of low-dose rituximab induction therapy on cytomegalovirus infection in living-donor renal transplantation. METHODS: A total of 92 recipients undergoing living-donor renal transplantation at Okayama University Hospital from May 2009 to August 2018 were evaluated retrospectively. Indications for preoperative rituximab (200 mg/body) were the following: (i) ABO major mismatch; (ii) ABO minor mismatch; (iii) donor-specific anti-human leukocyte antigen antibody-positive; and (iv) focal segmental glomerulosclerosis. We excluded four recipients who were followed <3 months, five who received >200 mg/body rituximab and seven who received prophylactic therapy for cytomegalovirus. RESULTS: There were 59 patients in the rituximab group and 17 in the non-rituximab group. Groups differed significantly in age (median age 53 vs 37 years, respectively; P = 0.04), but not in sex (male 64% vs 65%, P = 1.00), focal segmental glomerulosclerosis (3% vs 0%, P = 1.00) or percentage of cytomegalovirus-seronegative recipients of renal allografts from cytomegalovirus-seropositive donors (12% vs 18%, P = 0.68). The estimated glomerular filtration rate did not differ significantly between groups until 24 months after transplantation. Cytomegalovirus clinical symptoms (10% vs 24%, P = 0.22), including fever ≥38°C (5% vs 12%, P = 0.31) and gastrointestinal symptoms (5% vs 12%, P = 0.31), and the 5-year survival rates of death-censored graft loss (90% vs 83%, P = 0.43) did not differ significantly between groups. CONCLUSIONS: Low-dose rituximab induction therapy is effective in immunological high-risk recipients without increasing cytomegalovirus infection in the absence of valganciclovir prophylaxis.


Assuntos
Infecções por Citomegalovirus , Transplante de Rim , Adulto , Infecções por Citomegalovirus/tratamento farmacológico , Infecções por Citomegalovirus/epidemiologia , Rejeição de Enxerto/epidemiologia , Rejeição de Enxerto/prevenção & controle , Sobrevivência de Enxerto , Humanos , Quimioterapia de Indução , Transplante de Rim/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Rituximab/uso terapêutico
5.
Acta Med Okayama ; 73(3): 269-272, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31235976

RESUMO

Nephron-sparing treatment should be offered whenever possible to avoid dialysis in allograph cases. Cryoablation is a new treatment option for treating small-sized renal cell cancer (RCCs). We report a case of RCC arising in a kidney allograft treated by cryoablation. To our knowledge, this is the first case in Asia of RCC in a renal allograft treated using cryoablation. Contrast-enhanced CT-guided percutaneous renal needle biopsy and cryoablation were used to identify the RCC, which could not be identified by other techniques. The postoperative course was uneventful. Contrast-enhanced CT also showed no recurrence or metastases at the 6-month follow-up.


Assuntos
Carcinoma de Células Renais/diagnóstico por imagem , Criocirurgia/métodos , Neoplasias Renais/diagnóstico por imagem , Transplante de Rim , Tomografia Computadorizada por Raios X/métodos , Carcinoma de Células Renais/cirurgia , Meios de Contraste , Humanos , Neoplasias Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Intensificação de Imagem Radiográfica , Transplante Homólogo
6.
J Stroke Cerebrovasc Dis ; 28(11): 104374, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31530480

RESUMO

Traumatic cerebral aneurysms are histologically dissecting aneurysms or pseudoaneurysms, thus requiring parent artery occlusion for cure. Combination of endovascular parent artery occlusion and extracranial-intracranial bypass is considered optimal to obtain complete obliteration of the aneurysm and to avoid hemodynamic hypoperfusion. However, endovascular parent artery occlusion of the supraclinoid internal carotid artery (ICA) is at risk of ischemic complications due to distal coil protrusion to adjacent perforating arteries or distal embolism of the thrombi generated in the coil mass. A 20-year-old man presented with progressive left optic neuropathy following motor vehicle accident. Radiological examination revealed left supraclinoid ICA aneurysmal formation with dissecting change. We treated this traumatic supraclinoid ICA aneurysm by combination of endovascular parent artery occlusion and high-flow bypass in the hybrid operating room. An aneurysmal clip was applied on the ICA just distal to the aneurysm prior to coil embolization, and worked as a scaffold for subsequent filling coils and as a blockade for the distal emboli. This "clip anchor-assisted coil embolization" technique resulted in optimal parent artery occlusion for the traumatic aneurysm of the supraclinoid ICA with minimal risks of residual blood flow, intraoperative rupture, and thromboembolic complications.


Assuntos
Acidentes de Trânsito , Dissecção Aórtica/terapia , Embolização Terapêutica/instrumentação , Procedimentos Endovasculares/instrumentação , Aneurisma Intracraniano/terapia , Artéria Radial/transplante , Enxerto Vascular , Dissecção Aórtica/diagnóstico por imagem , Dissecção Aórtica/fisiopatologia , Velocidade do Fluxo Sanguíneo , Circulação Cerebrovascular , Humanos , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/fisiopatologia , Masculino , Resultado do Tratamento , Adulto Jovem
7.
Nephrology (Carlton) ; 23(9): 855-862, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29987860

RESUMO

AIM: Trefoil factor 3 (TFF3) is a small peptide that is involved in mucosal protection. TFF3 is widely expressed in multiple tissues including kidney tissue. Previous studies have reported that the levels of urinary TFF3 are significantly increased in patients with chronic kidney disease. The aim of this study is to detect the TFF3 mRNA in kidney and elucidate the relationship between renal TFF3 mRNA and tubulointerstitial fibrosis in IgA nephropathy (IgAN). METHODS: We investigated the renal mRNA expression of TFF3 by real-time PCR analysis in biopsy specimens from patients with IgAN, other glomerulonephritis (OGN) and minor glomerular abnormalities (MGA). We also determined the renal localization of TFF3 and the levels of urinary TFF3 by immunostaining and ELISA, respectively. RESULTS: The renal TFF3 mRNA expression was significantly associated with the urinary TFF3 secretion and the tubulointerstitial fibrosis score in the IgAN group alone. Immunostaining of the renal specimen of IgAN patients revealed that TFF3 is located in the renal tubular epithelial cells. The locations were almost the same as those that showed uromodulin positivity; specifically, the thick ascending limb (TAL) of the loop of Henle and the early portion of the distal tubule. The urinary TFF3 levels were positively correlated with the levels of urinary biomarkers of tubulointerstitial injury in such patients. CONCLUSION: Renal TFF3 mRNA is associated with renal tubulointerstitial fibrosis in IgAN patients. The TFF3 located in the renal tubular epithelial cells may play a role in the progression of tubulointerstitial fibrosis in IgAN patients.


Assuntos
Glomerulonefrite por IGA/genética , Túbulos Renais/química , RNA Mensageiro/genética , Fator Trefoil-3/genética , Adulto , Idoso , Estudos de Casos e Controles , Progressão da Doença , Feminino , Fibrose , Glomerulonefrite por IGA/diagnóstico , Glomerulonefrite por IGA/urina , Humanos , Túbulos Renais/patologia , Masculino , Pessoa de Meia-Idade , Fator Trefoil-3/urina , Regulação para Cima , Adulto Jovem
8.
Acta Med Okayama ; 72(3): 301-307, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29926009

RESUMO

Renal involvement is occasionally observed in Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT). It has been reported that galactose-deficient IgA is a closely linked to IgA nephropathy (IgAN), suggesting that patients with XLT/WAS associated with reduced galactosylation on serum IgA are susceptible to IgAN. It is necessary to pay more attention to patients with IgAN due to the potential complication with XLT/WAS. We here present a patient of XLT complicated with mild IgAN who underwent tonsillectomy combined with steroid pulse therapy to achieve complete clinical remission.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/complicações , Glomerulonefrite por IGA/etiologia , Trombocitopenia/complicações , Adolescente , Glomerulonefrite por IGA/terapia , Humanos , Masculino , Metilprednisolona/uso terapêutico , Tonsilectomia
9.
Kidney Blood Press Res ; 42(2): 284-293, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28531895

RESUMO

BACKGROUND/AIMS: Bleeding is the most common complication after renal biopsy. Although numerous predictors of bleeding have been reported, it remains unclear whether arterial stiffness affects bleeding complications. METHOD: We performed an observational study of the renal biopsies performed in our division over an approximately 6-year period (May 2010 to May 2016). The clinical and laboratory factors were analyzed to reveal the risk factors associated with bleeding, with a focus on anemia (defined as a ≥10% decrease in hemoglobin [Hb] after biopsy). The brachial-ankle pulse wave velocity (baPWV) was measured to evaluate arterial stiffness. RESULTS: This study included 462 patients (male, n=244; female, n=218). Anemia (defined above) was observed in 54 patients (11.7%). The risk of anemia was higher in women, older patients, and patients with lower serum albumin, lower eGFR and lower diastolic blood pressure after biopsy. We then performed a further analysis of 187 patients whose baPWV data were available. Multivariate analysis revealed that a higher baPWV was an independent risk factor for anemia. ROC analysis for predicting anemia found that a baPWV value of 1839 cm/s had the best performance (AUC 0.689). CONCLUSION: An increased baPWV may be a more valuable predictor of bleeding than any of the other reported risk factors.


Assuntos
Anemia/etiologia , Nefropatias/complicações , Rigidez Vascular , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Índice Tornozelo-Braço , Biópsia/efeitos adversos , Feminino , Hemoglobinas , Hemorragia , Humanos , Nefropatias/patologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Análise de Onda de Pulso , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
10.
BMC Nephrol ; 17(1): 122, 2016 09 05.
Artigo em Inglês | MEDLINE | ID: mdl-27596164

RESUMO

BACKGROUND: A link between IgA nephropathy and Crohn's disease has recently been reported. Other researchers hypothesize that intestine-derived IgA complexes deposit in glomerular mesangial cells, eliciting IgA nephropathy. Intestinal mucosal plasma cells mainly secrete IgA2. Nevertheless, IgA1 deposition is strongly implicated as being the primary cause of IgA nephropathy. CASE PRESENTATION: A 46-year-old Japanese man developed IgA nephropathy 29 years ago, following tonsillectomy. As a result, a normal urinalysis was obtained. The patient previously suffered Crohn's disease followed by urinary occult blood and proteinuria six years ago. Exacerbation of IgA nephropathy was highly suspected. Therefore a renal biopsy was performed. A diagnosis of exacerbation of IgA nephropathy with mesangial cell proliferation and fibrotic cellular crescent was based upon the pathological findings. The patient exhibited a positive clinical course and eventually achieved a remission with immunosuppressive therapy including prednisolone treatment. Immunostaining for the detection of IgA subtypes was performed on both of his kidney and excised ileum. The results revealed IgA1 and IgA2 deposition by submucosal cells in intestine. Furthermore, IgA1 deposition of mesangial areas in the patient's kidney, indicated an association of IgA1 with the exacerbation of IgA nephropathy. CONCLUSION: This case represents the possibility that the intestine-derived IgA1 can be the origin of galactose-deficient IgA which is known to cause IgA nephropathy exacerbation.


Assuntos
Doença de Crohn/metabolismo , Glomerulonefrite por IGA/metabolismo , Imunoglobulina A/análise , Mucosa Intestinal/química , Células Mesangiais/química , Doença de Crohn/complicações , Progressão da Doença , Glomerulonefrite por IGA/complicações , Glomerulonefrite por IGA/patologia , Humanos , Íleo , Masculino , Pessoa de Meia-Idade
11.
Acta Med Okayama ; 70(4): 295-7, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27549676

RESUMO

Although graft survival following renal transplantation (RTx) has improved, outcomes following highrisk RTx are variable. Preexisting antibodies, including donor-specific antibodies (DSA), play an important role in graft dysfunction and survival. We have designed a study to investigate the safety and efficacy of anti-CD20 monoclonal antibodies (rituximab) in high-risk RTx recipients. Major eligibility criteria include: 1) major and minor ABO blood group mismatch, 2) positive DSA. Thirty-five patients will receive 200 mg/body of rituximab. The primary endpoint is the incidence of B cell depletion. This study will clarify whether rituximab is efficacious in improving graft survival in high-risk RTx recipients.


Assuntos
Rejeição de Enxerto/prevenção & controle , Transplante de Rim , Rituximab/uso terapêutico , Sistema ABO de Grupos Sanguíneos , Povo Asiático , Incompatibilidade de Grupos Sanguíneos , Protocolos Clínicos , Humanos , Projetos de Pesquisa
12.
Childs Nerv Syst ; 31(6): 953-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25577220

RESUMO

PURPOSE: Here, we report a case of pediatric germinoma located in the bilateral basal ganglia, which presented with severe cognitive deteriorations. CASE REPORT: A 15-year-old boy presented with decreased school performance and mild cognitive disturbances. Magnetic resonance images (MRI) of the brain revealed T2 hyperintensity in the bilateral basal ganglia. The patient was initially observed by a local hospital and had screening for metabolic diseases or inflammatory diseases. Lesions with similar characteristics were also found in the pituitary stalk and infundibulum, and these lesions were enhanced with gadolinium (Gad). MR spectroscopy suggested that these should be neoplastic lesions other than metabolic or inflammatory diseases. Biopsy was performed with ventriculoscope, which proved all lesions of infundibulum, pineal, and basal ganglia were pathologically germinoma. The lesions responded well to the chemotherapy and radiation, and his cognitive function improved significantly. CONCLUSION: A case of germinoma in the bilateral basal ganglia which significantly affect cognitive functions is reported. Differential diagnoses of cognitive symptoms are various, but germinoma could be considered as a possible pathology for it. Early MRI and tumor marker exams are recommended, unless organic brain diseases are completely denied. MR spectroscopy and biopsy with ventriculoscope are useful for diagnosis.


Assuntos
Gânglios da Base/patologia , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/patologia , Transtornos Cognitivos/etiologia , Germinoma/complicações , Adolescente , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Gânglios da Base/cirurgia , Neoplasias Encefálicas/terapia , Creatina/metabolismo , Germinoma/terapia , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X
13.
J Clin Med ; 12(5)2023 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-36902810

RESUMO

BACKGROUND: IgA nephropathy (IgAN) is a major cause of chronic glomerulonephritis worldwide. T cell dysregulation has been reported to contribute to the pathogenesis of IgAN. Methods We measured a broad range of Th1, Th2 and Th17 cytokines in the serum of IgAN patients. We searched for significant cytokines, which were associated with clinical parameters and histological scores in IgAN patients. RESULTS: Among 15 cytokines, the levels of soluble CD40L (sCD40L) and IL-31 were higher in IgAN patients and were significantly associated with a higher estimated glomerular filtration rate (eGFR), a lower urinary protein to creatinine ratio (UPCR), and milder tubulointerstitial lesions (i.e., the early phase of IgAN). Multivariate analysis revealed that serum sCD40L was an independent determinant of a lower UPCR after adjustment for age, eGFR, and mean blood pressure (MBP). CD40, a receptor of sCD40L, has been reported to be upregulated on mesangial cells in IgAN. The sCD40L/CD40 interaction may directly induce inflammation in mesangial areas and may therefore be involved in the development of IgAN. CONCLUSIONS: The present study demonstrated the significance of serum sCD40L and IL-31 in the early phase of IgAN. Serum sCD40L may be a marker of the beginning of inflammation in IgAN.

14.
J Pers Med ; 13(4)2023 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-37108968

RESUMO

INTRODUCTION: While chronic kidney disease (CKD) is one of the most important contributors to mortality from non-communicable diseases, the number of nephrologists is limited worldwide. Medical cooperation is a system of cooperation between primary care physicians and nephrological institutions, consisting of nephrologists and multidisciplinary care teams. Although it has been reported that multidisciplinary care teams contribute to the prevention of worsening renal functions and cardiovascular events, there are few studies on the effect of a medical cooperation system. METHODS: We aimed to evaluate the effect of medical cooperation on all-cause mortality and renal prognosis in patients with CKD. One hundred and sixty-eight patients who visited the one hundred and sixty-three clinics and seven general hospitals of Okayama city were recruited between December 2009 and September 2016, and one hundred twenty-three patients were classified into a medical cooperation group. The outcome was defined as the incidence of all-cause mortality, or renal composite outcome (end-stage renal disease or 50% eGFR decline). We evaluated the effects on renal composite outcome and pre-ESRD mortality while incorporating the competing risk for the alternate outcome into a Fine-Gray subdistribution hazard model. RESULTS: The medical cooperation group had more patients with glomerulonephritis (35.0% vs. 2.2%) and less nephrosclerosis (35.0% vs. 64.5%) than the primary care group. Throughout the follow-up period of 5.59 ± 2.78 years, 23 participants (13.7%) died, 41 participants (24.4%) reached 50% decline in eGFR, and 37 participants (22.0%) developed end-stage renal disease (ESRD). All-cause mortality was significantly reduced by medical cooperation (sHR 0.297, 95% CI 0.105-0.835, p = 0.021). However, there was a significant association between medical cooperation and CKD progression (sHR 3.069, 95% CI 1.225-7.687, p = 0.017). CONCLUSION: We evaluated mortality and ESRD using a CKD cohort with a long-term observation period and concluded that medical cooperation might be expected to influence the quality of medical care in the patients with CKD.

16.
BMC Nephrol ; 13: 14, 2012 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-22443450

RESUMO

BACKGROUND: Catalase is an important antioxidant enzyme that regulates the level of intracellular hydrogen peroxide and hydroxyl radicals. The effects of catalase deficiency on albuminuria and progressive glomerulosclerosis have not yet been fully elucidated. The adriamycin (ADR) nephropathy model is considered to be an experimental model of focal segmental glomerulosclerosis. A functional catalase deficiency was hypothesized to exacerbate albuminuria and the progression of glomerulosclerosis in this model. METHODS: ADR was intravenously administered to both homozygous acatalasemic mutant mice (C3H/AnLCs(b)Cs(b)) and control wild-type mice (C3H/AnLCs(a)Cs(a)). The functional and morphological alterations of the kidneys, including albuminuria, renal function, podocytic, glomerular and tubulointerstitial injuries, and the activities of catalase were then compared between the two groups up to 8 weeks after disease induction. Moreover, the presence of a mutation of the toll-like receptor 4 (tlr4) gene, which was previously reported in the C3H/HeJ strain, was investigated in both groups. RESULTS: The ADR-treated mice developed significant albuminuria and glomerulosclerosis, and the degree of these conditions in the ADR-treated acatalasemic mice was higher than that in the wild-type mice. ADR induced progressive renal fibrosis, renal atrophy and lipid peroxide accumulation only in the acatalasemic mice. In addition, the level of catalase activity was significantly lower in the kidneys of the acatalasemic mice than in the wild-type mice during the experimental period. The catalase activity increased after ADR injection in wild-type mice, but the acatalasemic mice did not have the ability to increase their catalase activity under oxidative stress. The C3H/AnL strain was found to be negative for the tlr4 gene mutation. CONCLUSIONS: These data indicate that catalase deficiency plays an important role in the progression of renal injury in the ADR nephropathy model.


Assuntos
Acatalasia/fisiopatologia , Albuminúria/induzido quimicamente , Albuminúria/fisiopatologia , Catalase/metabolismo , Doxorrubicina , Nefropatias/induzido quimicamente , Nefropatias/fisiopatologia , Acatalasia/complicações , Animais , Suscetibilidade a Doenças , Masculino , Camundongos , Camundongos Endogâmicos C3H , Camundongos Knockout
17.
Cureus ; 14(7): e27385, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36046288

RESUMO

A meningocele is a congenital neural tube defect, and the majority of the meningocele cases are identified perinatally. We present the case of a 67-year-old patient with a sacral meningocele undiagnosed until the removal of a symptomatic epidermal inclusion cyst adjacent to it. Cerebrospinal fluid leakage occurred due to an incision in an undiagnosed meningocele adjacent to the epidermal inclusion cyst. Repair of the cerebrospinal fluid leakage was performed successfully without any deficit. The present case underscores the importance of considering a meningocele as a differential diagnosis for a mass occurring in the midline of the back at any age.

18.
Nat Commun ; 13(1): 4478, 2022 08 02.
Artigo em Inglês | MEDLINE | ID: mdl-35918310

RESUMO

Intracranial germ cell tumors (IGCTs) are rare brain neoplasms that mainly occur in children and adolescents with a particularly high incidence in East Asian populations. Here, we conduct a genome-wide association study (GWAS) of 133 patients with IGCTs and 762 controls of Japanese ancestry. A common 4-bp deletion polymorphism in an enhancer adjacent to BAK1 is significantly associated with the disease risk (rs3831846; P = 2.4 × 10-9, odds ratio = 2.46 [95% CI: 1.83-3.31], minor allele frequency = 0.43). Rs3831846 is in strong linkage disequilibrium with a testicular GCTs susceptibility variant rs210138. In-vitro reporter assays reveal rs3831846 to be a functional variant attenuating the enhancer activity, suggesting its contribution to IGCTs predisposition through altering BAK1 expression. Risk alleles of testicular GCTs derived from the European GWAS show significant positive correlations in the effect sizes with the Japanese IGCTs GWAS (P = 1.3 × 10-4, Spearman's ρ = 0.48). These results suggest the shared genetic susceptibility of GCTs beyond ethnicity and primary sites.


Assuntos
Neoplasias Encefálicas , Neoplasias Embrionárias de Células Germinativas , Neoplasias Testiculares , Adolescente , Alelos , Neoplasias Encefálicas/genética , Criança , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Masculino , Neoplasias Embrionárias de Células Germinativas/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Testiculares/genética , Proteína Killer-Antagonista Homóloga a bcl-2/genética
19.
Kidney Int Rep ; 7(4): 857-866, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35497811

RESUMO

Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is predominantly caused by frameshift mutations owing to a single-base insertion into the variable number tandem repeat (VNTR) region in MUC1. Because of the complexity of the variant hotspot, identification using short-read sequencers (SRSs) is challenging. Although recent studies have revealed the usefulness of long-read sequencers (LRSs), the prevalence of MUC1 variants in patients with clinically suspected ADTKD remains unknown. We aimed to clarify this prevalence and the genetic characteristics and clinical manifestations of ADTKD-MUC1 in a Japanese population using an SRS and an LRS. Methods: From January 2015 to December 2019, genetic analysis was performed using an SRS in 48 patients with clinically suspected ADTKD. Additional analyses were conducted using an LRS in patients with negative SRS results. Results: Short-read sequencing results revealed MUC1 variants in 1 patient harboring a cytosine insertion in the second repeat unit of the VNTR region; however, deeper VNTR regions could not be read by the SRS. Therefore, we conducted long-read sequencing analysis of 39 cases and detected MUC1 VNTR variants in 8 patients (in total, 9 patients from unrelated families). With the inclusion of family-affected patients (n = 31), the median age at the development of end-stage kidney disease (ESKD) was 45 years (95% CI: 40-40 years). Conclusion: In Japan, the detection rate of MUC1 variants in patients with clinically suspected ADTKD was 18.8%. More than 20% of patients with negative SRS results had MUC1 variants detected by an LRS.

20.
Biochim Biophys Acta ; 1802(2): 240-6, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19883754

RESUMO

Human acatalasemia may be a risk factor for the development of diabetes mellitus. However, the mechanism by which diabetes is induced is still poorly understood. The impact of catalase deficiency on the onset of diabetes has been studied in homozygous acatalasemic mutant mice or control wild-type mice by intraperitoneal injection of diabetogenic alloxan. The incidence of diabetes was higher in acatalasemic mice treated with a high dose (180 mg/kg body weight) of alloxan. A higher dose of alloxan accelerated severe atrophy of pancreatic islets and induced pancreatic beta cell apoptosis in acatalasemic mice in comparison to wild-type mice. Catalase activity remained low in the acatalasemic pancreas without the significant compensatory up-regulation of glutathione peroxidase or superoxide dismutase. Furthermore, daily intraperitoneal injection of angiotensin II type 1 (AT1) receptor antagonist telmisartan (0.1 mg/kg body weight) prevented the development of alloxan-induced hyperglycemia in acatalasemic mice. This study suggests that catalase plays a crucial role in the defense against oxidative-stress-mediated pancreatic beta cell death in an alloxan-induced diabetes mouse model. Treatment with telmisartan may prevent the onset of alloxan-induced diabetes even under acatalasemic conditions.


Assuntos
Diabetes Mellitus Experimental/metabolismo , Acatalasia/metabolismo , Aloxano , Bloqueadores do Receptor Tipo 1 de Angiotensina II/uso terapêutico , Animais , Apoptose , Benzimidazóis/uso terapêutico , Benzoatos/uso terapêutico , Glicemia/efeitos dos fármacos , Glicemia/metabolismo , Peso Corporal , Catalase/metabolismo , Morte Celular , Diabetes Mellitus Experimental/genética , Diabetes Mellitus Experimental/prevenção & controle , Glutationa Peroxidase/metabolismo , Homozigoto , Hiperglicemia/enzimologia , Hiperglicemia/metabolismo , Células Secretoras de Insulina/efeitos dos fármacos , Células Secretoras de Insulina/enzimologia , Células Secretoras de Insulina/patologia , Células Secretoras de Insulina/fisiologia , Masculino , Camundongos , Camundongos Endogâmicos C3H , Camundongos Knockout , Camundongos Mutantes , Superóxido Dismutase/metabolismo , Telmisartan
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