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Sample records for renal disease diagnosis

  1. Early diagnosis of renal disease and renal failure.

    PubMed

    Lees, George E

    2004-07-01

    The main goal of early diagnosis of renal disease and renal failure in dogs and cats is to enable timely application of therapeutic interventions that may slow or halt disease progression. Strategies for early diagnosis of renal disease use urine tests that detect proteinuria that is a manifestation of altered glomerular permselectivity or impaired urine-concentrating ability as well blood tests to evaluate plasma creatinine concentration. Animals with progressive renal disease should be carefully investigated and treated appropriately. Animals with mild, possibly nonprogressive, renal disease should be monitored adequately to detect any worsening trends,which should lead to further investigation and treatment even if the increments of change are small. PMID:15223206

  2. Inherited renal cystic diseases.

    PubMed

    Kim, Bohyun; King, Bernard F; Vrtiska, Terri J; Irazabal, Maria V; Torres, Vicente E; Harris, Peter C

    2016-06-01

    A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed. PMID:27167233

  3. Diagnosis of cardiac disease in pediatric end-stage renal disease

    PubMed Central

    Chavers, Blanche M.; Solid, Craig A.; Sinaiko, Alan; Daniels, Frank X.; Chen, Shu-Cheng; Collins, Allan J.; Frankenfield, Diane L.; Herzog, Charles A.

    2011-01-01

    Background. Cardiac disease is a significant cause of morbidity and mortality in children with end-stage renal disease (ESRD). This study aimed to report the frequency of cardiac disease diagnostic methods used in US pediatric maintenance hemodialysis patients. Methods. A cross-sectional analysis of all US pediatric (ages 0.7–18 years, n = 656) maintenance hemodialysis patients was performed using data from the Centers for Medicare and Medicaid Services ESRD Clinical Performance Measures Project. Clinical and laboratory information was collected in 2001. Results were analysed by age, sex, race, Hispanic ethnicity, dialysis duration, body mass index (BMI), primary ESRD cause and laboratory data. Results. Ninety-two percent of the patients had a cardiovascular risk factor (63% hypertension, 38% anemia, 11% BMI > 94th percentile, 63% serum phosphorus > 5.5 mg/dL and 55% calcium–phosphorus product ≥ 55 mg2/dL2). A diagnosis of cardiac disease was reported in 24% (n = 155) of all patients: left ventricular hypertrophy/enlargement 17%, congestive heart failure/pulmonary edema 8%, cardiomyopathy 2% and decreased left ventricular function 2%. Thirty-one percent of patients were not tested. Of those tested, the diagnostic methods used were chest X-rays in 60%, echocardiograms in 35% and electrocardiograms in 33%; left ventricular hypertrophy/enlargement was diagnosed using echocardiogram (72%), chest X-ray (20%) and electrocardiogram (15%). Conclusions. Although 92% of patients had cardiovascular risk factors, an echocardiography was performed in only one-third of the patients. Our study raises the question of why echocardiography, considered the gold standard for cardiac disease diagnosis, has been infrequently used in pediatric maintenance dialysis patients, a high-risk patient population. PMID:20861193

  4. [Renal disease].

    PubMed

    Espinosa-Cuevas, María de Los Ángeles

    2016-09-01

    Chronic renal failure in its various stages, requires certain nutritional restrictions associated with the accumulation of minerals and waste products that cannot be easily eliminated by the kidneys. Some of these restrictions modify the intake of proteins, sodium, and phosphorus. Milk and dairy products are sources of these nutrients. This article aims to inform the reader about the benefits including milk and dairy products relying on a scientific and critical view according to the clinical conditions and the stage of renal disease in which the patient is. PMID:27603894

  5. Renal cystic disease

    SciTech Connect

    Hartman, D.S.

    1988-01-01

    The book begins with an overview of renal cystic disease and a presentation of simple renal cysts. Subsequent chapters cover cystic disease in association with renal neoplasms and medullary sponge kidney. The chapters addressing autosomal-dominant and autosomal-recessive polycystic kidney disease discuss and differentiate the infantile and adult forms of the disease. There are also separate discussions of medullary cystic disease, multicystic dysplastic kidney, and cysts of the renarenal sinus.

  6. Diagnosis and Treatment of Low Testosterone among Patients with End-Stage Renal Disease.

    PubMed

    Bao, Yeran; Johansen, Kirsten L

    2015-01-01

    The prevalence of low testosterone level is particularly high among patients with end-stage renal disease (ESRD) and has been associated with mortality. In populations without ESRD, low testosterone level has also been associated with a number of morbidities including cardiovascular disease, diabetes mellitus, low muscle mass, low bone mass, low physical performance, and frailty. However, there is controversy regarding what constitutes low testosterone level in the aging population and at what level replacement therapy with testosterone is indicated. There are no randomized controlled trials investigating long-term outcomes of testosterone replacement therapy in populations with or without ESRD. Available trial results suggest equivocal improvements in sexual function. Muscle mass and bone mineral density appear to improve, but results in physical function and performance are mixed and there are no data on fracture prevention. Some recent data suggest harm when testosterone was given to men with limited mobility. Finally, there is little evidence that testosterone adds to existing erythropoietin agents in the treatment of anemia in ESRD. Due to lack of evidence supporting long-term use of testosterone, the authors recommend against the routine use of testosterone in ESRD patients with low testosterone levels. Testosterone treatment can be considered in those with low bone mass and total testosterone level <200 ng/dl, or in younger patients with sexual complaints with total testosterone level lower than the reference range. It is important to engage patients in discussion of risks and benefits before initiating testosterone therapy; testosterone therapy should be discontinued if the intended treatment effect is not observed after short-term use. PMID:25376701

  7. [Role of nuclear magnetic resonance tomography in the diagnosis of renal diseases].

    PubMed

    Zilch, H G; Held, P; Baumgartl, F W

    1986-01-01

    The new non-invasive imaging method MRI makes multidimensional image-display possible without using any radiation and contrast media. An improved technique results in an excellent differentiation of renal structure and renal anatomic details. The multiplanar display could be very helpful to improve the staging of malignant tumors. Inflammations of the kidney produce a significant change of relaxation times. The different signals of cortex and medulla disappear especially in chronic glomerulonephritis, tubular necrosis and transplant rejection. In these instances MRI can essentially contribute to renal diagnostic imaging. Furthermore using fast sequences functional imaging of the kidney will be possible. PMID:3577632

  8. The role of imaging in the diagnosis and management of renal stone disease in pregnancy.

    PubMed

    Masselli, G; Weston, M; Spencer, J

    2015-12-01

    The distinction of pain in pregnancy due to urolithiasis from that related to physiological dilation of the renal tract is a common conundrum as renal colic is one of the commonest causes for non-obstetric pain in pregnancy. Ultrasound is the first-line imaging test but although it may demonstrate renal dilation, it may not show the cause. Magnetic resonance imaging (MRI) is able to make the distinction. Physiological dilation will show smooth tapering of the ureter in the middle third as it is compressed between the gravid uterus and the retroperitoneum. Obstruction due to calculi causes renal enlargement and perinephric oedema. When a stone is lodged in the lower ureter, a standing column of dilated ureter will be seen below the physiological constriction. The stone itself may be shown. Computed tomography (CT) is an acceptable alternative if there is a contraindication to MRI, but even low-dose regimes involve some ionising radiation. This paper serves to highlight the role of MRI compared to US and CT in the imaging of renal colic in pregnancy. Multidisciplinary collaboration between obstetricians, urologists, and radiologists is required for effective management. PMID:26454345

  9. Tuberous Sclerosis Complex Renal Disease

    PubMed Central

    Dixon, Bradley P.; Hulbert, John C.; Bissler, John J.

    2010-01-01

    Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal survival and improved quality of life for the TSC patient. This review specifically addresses some of the major renal manifestations of this disease. PMID:21071977

  10. Dental management of people with renal disease and renal transplants.

    PubMed

    Ferguson, C A; Whyman, R A

    1998-09-01

    Chronic renal failure is the result of progressive loss of functioning nephrons leading to loss of renal function and accumulation of excretory products. Loss of the regulatory and excretory functions of the kidneys causes oral manifestations and multiple complications which have implications for dental care. Dental management of patients with renal failure and renal transplants involves consideration of specific haematological and cardiovascular effects, and implications for the prescribing and use of pharmaceuticals. It also requires the dentist to appreciate the potential for involvement of multiple organ systems in the disease process and the implications this has for dental care. The orofacial manifestations of chronic renal failure are secondary to systemic manifestations and are not specific to the diagnosis of end-stage renal disease. PMID:9775650

  11. [Renal angiomyolipoma: diagnosis and treatment].

    PubMed

    Arima, K; Kise, H; Yamashita, A; Yanagawa, M; Tochigi, H; Kawamura, J; Horiuchi, E; Sugimura, Y

    1995-09-01

    In 10 years the diagnosis of renal angiomyolipoma (RAML) was made in 14 patients (male-to female ratio 1:3.7) at our institution; 1 case was associated with tuberous sclerosis (TS) and 1 case had regional lymph node involvement. A statistical study was done on data taken from 739 cases of RAML in the Japanese literature, including our cases. The male to female ratio was 1 to 3. Twenty eight percent of the cases were associated with TS. The ratio of bilateral cases to the unilateral one was 1 to 3. The main clinical signs were flank pain, abdominal mass, hematuria and fever elevation. Recently the ratio of nephrectomy has decreased to 30%. The percentage of detecting the fat component by ultrasonography (US), computed tomography (CT) and magnetic resonance imaging were 88.1%, 86.5% and 80.8% respectively. The percentages of visualizing hypervascularity, aneurysms, absence of arterio-venous shunt and onion peel appearance by selective renal angiography were 77.3%, 71.4%, 48.1% and 4.9% respectively. Small (less than 3 cm), asymptomatic, simple lesions with adipose component may be observed annually by CT and US until more experiences is gained with surveillance of these patients. Embolization was useful for emergency cases or pre-treatment of nephron sparing surgery, but insufficient by itself. As there still remain problems in the diagnosis of RAML, especially in the case of very small tumors, in the case with almost no adipose component and in the case associated with renal cell carcinoma, the diagnosis of RAML should be made synthetically including angiography. PMID:7484542

  12. Diagnosis of metabolic bone disease

    SciTech Connect

    Grech, P.; Martin, T.J.; Barrington, N.A.; Ell, P.J.

    1986-01-01

    This book presents a reference on the radiologic evaluation, features, and differential diagnosis of metabolic diseases involving the whole skeleton, calcium deficiencies resulting from pharmacologic agents, and bone changes related to endocrine disturbances. It also stresses how radiology, nuclear medicine, and biochemistry - either alone or in concert - contribute to clinical diagnosis. It covers renal bone disease, Paget's disease, hyperphosphatasia, extraskeletal mineralization, metabolic bone disorders related to malnutrition, tumors, plus radionuclide studies including materials and methods.

  13. Autophagy in renal diseases.

    PubMed

    De Rechter, Stéphanie; Decuypere, Jean-Paul; Ivanova, Ekaterina; van den Heuvel, Lambertus P; De Smedt, Humbert; Levtchenko, Elena; Mekahli, Djalila

    2016-05-01

    Autophagy is the cell biology process in which cytoplasmic components are degraded in lysosomes to maintain cellular homeostasis and energy production. In the healthy kidney, autophagy plays an important role in the homeostasis and viability of renal cells such as podocytes and tubular epithelial cells and of immune cells. Recently, evidence is mounting that (dys)regulation of autophagy is implicated in the pathogenesis of various renal diseases, and might be an attractive target for new renoprotective therapies. In this review, we provide an overview of the role of autophagy in kidney physiology and kidney diseases. PMID:26141928

  14. Pharmacokinetics in renal disease.

    PubMed

    Levy, G

    1977-04-01

    The physiologic perturbations associated with renal disease can have a pronounced effect on the kinetics of elimination of drugs and their metabolites from the body. Drugs are ordinarily cleared from the body by a number of routes, each of which can be characterized by a clearance value. The sum of these clearances (renal, hepatic, etc.) is the total or body clearance which is inversely proportional to the steady-state plasma concentration produced by a given drug dosage regimen. The quantitative contribution of each route of elimination to the metabolic fate of a drug is proportional to the clearance value of that route relative to the body clearance. As a first approximation, the reduction in the renal clearance of a drug caused by renal disease is proportional to the reduction in the renal clearance of creatinine. The metabolic (biotransformation) clearance of many extensively plasma protein bound drugs is proportional to their free fraction (ratio of concentrations of free to total drug) in plasma. Since severe renal disease causes a reduction in the plasma protein binding of many drugs, the metabolic clearance of such drugs will be increased. The contribution of hemodialysis to the total clearance of a drug depends on the magnitude of the clearance obtained by hemodialysis relative to the magnitude of the body clearance of the drug on a day between dialyses. To compensate for the increased elimination of a drug during hemodialysis, the dosing rate (i.e., the dose per unit of time) must be increased by the factor (hemodialysis clearance and body clearance):body clearance, where body clearance is that during a day between dialyses. Further dosage compensation may be needed if body clearance is increased during hemodialysis due to decreased plasma protein binding of the drug. Under certain conditions, an increased accumulation of pharmacologically active drug metabolites during renal failure becomes a matter of serious concern. PMID:851113

  15. Renal disease in Colombia.

    PubMed

    Gómez, Rafael Alberto

    2006-01-01

    Chronic renal disease represents a problem of public health in Colombia. Its prevalence has increased in last decade, with a prevalence of 44.7 patients per million (ppm) in 1993 to 294.6 ppm in 2004, considering that only 56.2% of the population has access to the health. This increase complies with the implementation of Law 100 of 1993, offering greater coverage of health services to the Colombian population. The cost of these pathologies is equivalent to the 2.49% of the budget for health of the nation. The three most common causes of renal failure are diabetes mellitus (DM; 30%), arterial hypertension (30%), and glomerulonephritis (7.85%). In incident patients, the DM accounts for 32.9%. The rate of global mortality is 15.8%, 17.4% in hemodialysis and 15.1% in peritoneal dialysis. In 2004, 467 renal transplants were made, 381 of deceased donor with an incidence of 10.3 ppm. The excessive cost of these pathologies can cause the nation's health care system to collapse if preventative steps are not taken. In December of 2004, the Colombian Association of Nephrology with the participation of the Latin American Society of Nephrology and Arterial Hypertension wrote the "Declaration of Bogotá," committing the state's scientific societies and promotional health companies to develop a model of attention for renal health that, in addition to implementing national registries, continues to manage renal disease. PMID:17162422

  16. Metabolomics and Renal Disease

    PubMed Central

    Rhee, Eugene P.

    2015-01-01

    Purpose of review This review summarizes recent metabolomics studies of renal disease, outlining some of the limitations of the literature to date. Recent findings The application of metabolomics in nephrology research has expanded from initial analyses of uremia to include both cross-sectional and longitudinal studies of earlier stages of kidney disease. Although these studies have nominated several potential markers of incident CKD and CKD progression, lack of overlap in metabolite coverage has limited the ability to synthesize results across groups. Further, direct examination of renal metabolite handling has underscored the substantial impact kidney function has on these potential markers (and many other circulating metabolites). In experimental studies, metabolomics has been used to identify a signature of decreased mitochondrial function in diabetic nephropathy and a preference for aerobic glucose metabolism in PKD; in each case, these studies have outlined novel therapeutic opportunities. Finally, as a complement to the longstanding interest in renal metabolite clearance, the microbiome has been increasingly recognized as the source of many plasma metabolites, including some with potential functional relevance to CKD and its complications. Summary The high-throughput, high-resolution phenotyping enabled by metabolomics technologies has begun to provide insight on renal disease in clinical, physiologic, and experimental contexts. PMID:26050125

  17. Cystic renal neoplasms and renal neoplasms associated with cystic renal diseases in adults: cross-sectional imaging findings.

    PubMed

    Katabathina, Venkata S; Garg, Deepak; Prasad, Srinivasa R; Vikram, Raghu

    2012-01-01

    Cystic renal neoplasms in adults are a heterogeneous group of tumors with characteristic histogenesis, pathological findings, and variable biological profiles. They include disparate entities that are either biologically benign (lymphangioma, cystic nephroma, and mixed epithelial and stromal tumor) or malignant (cystic renal cell carcinoma, multilocular cystic renal cell carcinoma, and primary renal synovial sarcoma). Renal cystic diseases are characterized by cystic changes of the kidneys due to hereditary, developmental, or acquired etiology. Cystic renal diseases such as acquired cystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis are associated with the development of a wide spectrum of benign and malignant renal neoplasms. Most cystic renal tumors and cystic disease-associated renal neoplasms show characteristic cross-sectional imaging findings that permit accurate diagnosis. In addition, cross-sectional imaging is pivotal in the follow-up and surveillance of adult cystic tumors of the kidney. PMID:23192202

  18. Hyperparathyroidism of Renal Disease

    PubMed Central

    Yuen, Noah K; Ananthakrishnan, Shubha; Campbell, Michael J

    2016-01-01

    Renal hyperparathyroidism (rHPT) is a common complication of chronic kidney disease characterized by elevated parathyroid hormone levels secondary to derangements in the homeostasis of calcium, phosphate, and vitamin D. Patients with rHPT experience increased rates of cardiovascular problems and bone disease. The Kidney Disease: Improving Global Outcomes guidelines recommend that screening and management of rHPT be initiated for all patients with chronic kidney disease stage 3 (estimated glomerular filtration rate, < 60 mL/min/1.73 m2). Since the 1990s, improving medical management with vitamin D analogs, phosphate binders, and calcimimetic drugs has expanded the treatment options for patients with rHPT, but some patients still require a parathyroidectomy to mitigate the sequelae of this challenging disease. PMID:27479950

  19. Determination of the optimal case definition for the diagnosis of end-stage renal disease from administrative claims data in Manitoba, Canada

    PubMed Central

    Komenda, Paul; Yu, Nancy; Leung, Stella; Bernstein, Keevin; Blanchard, James; Sood, Manish; Rigatto, Claudio

    2015-01-01

    Introduction End-stage renal disease (ESRD) is a major public health problem with increasing prevalence and costs. An understanding of the long-term trends in dialysis rates and outcomes can help inform health policy. We determined the optimal case definition for the diagnosis of ESRD using administrative claims data in the province of Manitoba over a 7-year period. Methods We determined the sensitivity, specificity, predictive value and overall accuracy of 4 administrative case definitions for the diagnosis of ESRD requiring chronic dialysis over different time horizons from Jan. 1, 2004, to Mar. 31, 2011. The Manitoba Renal Program Database served as the gold standard for confirming dialysis status. Results During the study period, 2562 patients were registered as recipients of chronic dialysis in the Manitoba Renal Program Database. Over a 1-year period (2010), the optimal case definition was any 2 claims for outpatient dialysis, and it was 74.6% sensitive (95% confidence interval [CI] 72.3%–76.9%) and 94.4% specific (95% CI 93.6%–95.2%) for the diagnosis of ESRD. In contrast, a case definition of at least 2 claims for dialysis treatment more than 90 days apart was 64.8% sensitive (95% CI 62.2%–67.3%) and 97.1% specific (95% CI 96.5%–97.7%). Extending the period to 5 years greatly improved sensitivity for all case definitions, with minimal change to specificity; for example, for the optimal case definition of any 2 claims for dialysis treatment, sensitivity increased to 86.0% (95% CI 84.7%–87.4%) at 5 years. Conclusion Accurate case definitions for the diagnosis of ESRD requiring dialysis can be derived from administrative claims data. The optimal definition required any 2 claims for outpatient dialysis. Extending the claims period to 5 years greatly improved sensitivity with minimal effects on specificity for all case definitions. PMID:26457290

  20. Acute Small Bowel Hemorrhage in Three Patients with End-Stage Renal Disease: Diagnosis and Management by Angiographic Intervention

    SciTech Connect

    Yoon, Woong; Kim, Jae Kyu; Kim, Heoung Kil; Han, Young Min; Kang, Heoung Keun

    2002-03-15

    Three patients who had undergone hemodialysis for end-stage renal disease, presented with acute small bowel hemorrhage,and were treated with superselective transcatheter arterial embolization via coaxial microcatheters. In all patients pre-procedure upper gastrointestinal (GI) endoscopy and colonoscopy had failed to demonstrate the source of the hemorrhage. Selective diagnostic angiography revealed frank extravasations of contrast from the small bowel arteries (one jejunal artery and two ileal arteries). After superselection of feeding arteries with a microcatheter, transcatheter embolization using Gelfoam and microcoils was performed in all three patients. Immediate hemostasis was achieved in all patients and the patients were discharged free from symptoms 3-5 days after embolization. No evidence of intestinal ischemia or infarction was noted, with the time from procedure to last follow-up ranging from 4 to 12 months. We conclude that superselective angiography is a valuable tool for diagnosing and treating acute small bowel hemorrhage inpatients with end-stage renal disease when endoscopic evaluation has failed.

  1. [Multilocular renal cyst in adults: a diagnosis by exclusion?].

    PubMed

    Redondo Martínez, E; Rey López, A

    1991-05-01

    The clinical and the gross and microscopic features of two multicystic masses in adult female patients are described. These met the Powell and Boggs and Kimelstiel criteria for multilocular renal cyst (MRC). MRC may be the common process and the gross expression of different disease entities with different biological significance which must be distinguished clinically and anatomopathologically. We present the data for differential diagnosis of conditions that may present as MRC: partially differentiated cystic nephroblastoma, mesoblastic congenital cystic nephroma, lymphangioma (more common in infants), cystic renal carcinoma and sarcoma, segmental polycystic kidney (more common in adults) and segmental renal dysplasia. The diagnosis of multilocular renal cyst should be made only after discarding the foregoing conditions. PMID:2064438

  2. Cystic Renal Disease in the Domestic Ferret

    PubMed Central

    Jackson, Courtnye N; Rogers, Arlin B; Maurer, Kirk J; Lofgren, Jennifer LS; Fox, James G; Marini, Robert P

    2008-01-01

    Cystic renal diseases in domestic ferrets are a common anecdotal finding but have received scant systematic assessment. We performed a 17-y, case-control retrospective analysis of the medical records of 97 ferrets housed at our institution between 1987 and 2004, to determine the prevalence and morphotypes of cystic renal diseases in this species. Histologic sections stained with hematoxylin and eosin, Masson trichrome, or periodic acid–Schiff were evaluated by a comparative pathologist, and statistical analysis of hematologic and serum chemistry values was correlated with morphologic diagnosis. Of the 97 available records, 43 were eliminated due to lack of accompanying tissues. Of the 54 remaining cases, 37 (69% prevalence) had documented renal cysts, and 14 of the 54 ferrets (26%) had primary polycystic disease consisting of either polycystic kidney disease affecting renal tubules or, more commonly, glomerulocystic kidney disease. Secondary polycystic lesions were identified in 11 ferrets (20%), and 12 ferrets (22%) exhibited focal or isolated tubular cysts only as an incidental necropsy finding. Ferrets with secondary renal cysts associated with other developmental anomalies, mesangial glomerulopathy, or end-stage kidney disease had hyperphosphatemia and elevated BUN in comparison with those with primary cystic disease and elevated BUN compared with those without renal lesions. Although reflecting institutional bias, these results implicate primary and secondary cystic renal diseases as highly prevalent and underreported in the domestic ferret. In addition to the clinical implications for ferrets as research subjects and pets, these findings suggest a potential value for ferrets as a model of human cystic renal diseases. PMID:18524174

  3. Diagnosis and evaluation of renal cysts.

    PubMed

    Waterman, Jack

    2014-12-01

    Renal cysts are commonly encountered in clinical practice. Although most cysts found on routine imaging studies are benign, there must be an index of suspicion to exclude a neoplastic process or the presence of a multicystic disorder. This article focuses on the more common adult cystic diseases, including simple and complex renal cysts, autosomal-dominant polycystic kidney disease, and acquired cystic kidney disease. PMID:25439536

  4. MRI appearance of massive renal replacement lipomatosis in the absence of renal calculus disease

    PubMed Central

    Fitzgerald, E; Melamed, J; Taneja, S S; Rosenkrantz, A B

    2011-01-01

    Renal replacement lipomatosis is a rare benign entity in which extensive fibrofatty proliferation of the renal sinus is associated with marked renal atrophy. In this report, we present a case of massive renal replacement lipomatosis demonstrated on MRI. The presentation was atypical given an absence of associated renal calculus disease, and an initial CT scan was interpreted as suspicious for a liposarcoma. The differential diagnosis and key MRI findings that served to establish this specific diagnosis are reviewed. Histopathological correlation is also presented, as the patient underwent nephroureterectomy. PMID:21257835

  5. Renal Disease and Adult Vaccination

    MedlinePlus

    ... Resources for Healthcare Professionals Renal Disease and Adult Vaccination Recommend on Facebook Tweet Share Compartir Vaccines are ... have immunity to this disease Learn about adult vaccination and other health conditions Asplenia Diabetes Type 1 ...

  6. Recent advances of immunohistochemistry for diagnosis of renal tumors.

    PubMed

    Kuroda, Naoto; Tanaka, Azusa; Ohe, Chisato; Nagashima, Yoji

    2013-08-01

    The recent classification of renal tumors has been proposed according to genetic characteristics as well as morphological difference. In this review, we summarize the immunohistochemical characteristics of each entity of renal tumors. Regarding translocation renal cell carcinoma (RCC), TFE3, TFEB and ALK protein expression is crucial in establishing the diagnosis of Xp11.2 RCC, renal carcinoma with t(6;11)(p21;q12), and renal carcinoma with ALK rearrangement, respectively. In dialysis-related RCC, neoplastic cells of acquired cystic disease-associated RCC are positive for alpha-methylacyl-CoA racemase (AMACR), but negative for cytokeratin (CK) 7, whereas clear cell papillary RCC shows the inverse pattern. The diffuse positivity for carbonic anhydrase 9 (CA9) is diagnostic for clear cell RCC. Co-expression of CK7 and CA9 is characteristic of multilocular cystic RCC. CK7 and AMACR are excellent markers for papillary RCC and mucinous tubular and spindle cell carcinoma. CD82 and epithelial-related antigen (MOC31) may be helpful in the distinction between chromophobe RCC and renal oncocytoma. WT1 and CD57 highlights the diagnosis of metanephric adenoma. The combined panel of PAX2 and PAX8 may be useful in the diagnosis of metastatic RCC. PMID:23957913

  7. Oxygen radicals and renal diseases.

    PubMed

    Klahr, S

    1997-01-01

    Reactive oxygen metabolites (superoxide, hydrogen peroxide, hydroxyl radical, and hypochlorous acid) are important mediators of renal damage in acute renal failure and glomerular and tubulointerstitial diseases. The role of these oxygen metabolites in the above entities is discussed, and the effects of antioxidants and scavengers of O2 radicals are considered. The role of oxygen radicals in the regulation of gene transcription is also considered. PMID:9387104

  8. Adult renal cystic disease: a genetic, biological, and developmental primer.

    PubMed

    Katabathina, Venkata S; Kota, Gopi; Dasyam, Anil K; Shanbhogue, Alampady K P; Prasad, Srinivasa R

    2010-10-01

    Renal cystic diseases in adults are a heterogeneous group of disorders characterized by the presence of multiple cysts in the kidneys. These diseases may be categorized as hereditary, acquired, or developmental on the basis of their pathogenesis. Hereditary conditions include autosomal dominant polycystic kidney disease, medullary cystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis. Acquired conditions include cystic kidney disease, which develops in patients with end-stage renal disease. Developmental cystic diseases of the adult kidney include localized renal cystic disease, multicystic dysplastic kidney, and medullary sponge kidney. In recent years, many molecular and cellular mechanisms involved in the pathogenesis of renal cystic diseases have been identified. Hereditary renal cystic diseases are characterized by genetic mutations that lead to defects in the structure and function of the primary cilia of renal tubular epithelial cells, abnormal proliferation of tubular epithelium, and increased fluid secretion, all of which ultimately result in the development of renal cysts. A better understanding of these pathophysiologic mechanisms is now providing the basis for the development of more targeted therapeutic drugs for some of these disorders. Cross-sectional imaging provides useful information for diagnosis, surveillance, prognostication, and evaluation of treatment response in renal cystic diseases. PMID:21071372

  9. Imaging-based diagnosis of acute renal allograft rejection

    PubMed Central

    Thölking, Gerold; Schuette-Nuetgen, Katharina; Kentrup, Dominik; Pawelski, Helga; Reuter, Stefan

    2016-01-01

    Kidney transplantation is the best available treatment for patients with end stage renal disease. Despite the introduction of effective immunosuppressant drugs, episodes of acute allograft rejection still endanger graft survival. Since efficient treatment of acute rejection is available, rapid diagnosis of this reversible graft injury is essential. For diagnosis of rejection, invasive core needle biopsy of the graft is the “gold-standard”. However, biopsy carries the risk of significant graft injury and is not immediately feasible in patients taking anticoagulants. Therefore, a non-invasive tool assessing the whole organ for specific and fast detection of acute allograft rejection is desirable. We herein review current imaging-based state of the art approaches for non-invasive diagnostics of acute renal transplant rejection. We especially focus on new positron emission tomography-based as well as targeted ultrasound-based methods. PMID:27011915

  10. Pathophysiology and management of progressive renal disease.

    PubMed

    Brown, S A; Crowell, W A; Brown, C A; Barsanti, J A; Finco, D R

    1997-09-01

    Recently, the hypothesis that all renal diseases are inherently progressive and self-perpetuating has focused attention on adaptive changes in renal structure and function that occur whenever renal function is reduced. These glomerular adaptations to renal disease include increases in filtration rate, capillary pressure and size, and are referred to as glomerular hyperfiltration, glomerular hypertension and glomerular hypertrophy, respectively. Extrarenal changes, such as dietary phosphate excess, systemic hypertension, hyperlipidaemia, acidosis and hyperparathyroidism occur in animals with renal disease and may be contributors to progression of renal disease. Emphasis in the management of companion animals with renal disease has shifted to identifying, understanding and controlling those processes that play a role in the progression from early to end-stage renal failure. Advances made by veterinary nephrologists in the past 15 years permit resolution of old controversies, formulation of new hypotheses and discussion of unresolved issues about the nature of progressive renal disease in dogs and cats. PMID:9308397

  11. Management of diabetic renal disease

    PubMed Central

    Eboh, Cecil

    2015-01-01

    Diabetic nephropathy is the leading cause of end stage renal failure (ESRF) worldwide, representing over 50% of patients on renal replacement therapy in some parts of the world. The condition is common in people with type 1 and type 2 diabetes, although the incidence appears to be declining, especially in type 1 diabetes. More than 1 in 3 people with type 2 diabetes have impaired kidney function. Advances in our understanding of the pathogenesis and natural history of the condition have enabled us to consider earlier therapy aimed at renal preservation and reduction in cardiovascular morbidity. Microalbuminuria is now established as the earliest risk marker for nephropathy in type 1 diabetes and cardiovascular disease in type 2 diabetes. This review examines the current concepts in the pathogenesis and management of diabetic nephropathy. PMID:26244141

  12. Application of radiation grafted media for lectin affinity separation and urease immobilization: A novel approach to tumor therapy and renal disease diagnosis

    NASA Astrophysics Data System (ADS)

    Müller-Schulte, D.; Daschek, W.

    1995-09-01

    Carriers modified by synergistic radiation grafting are used as affinity media for the separation of a lectin from a mistletoe extract. The grafted supports show distinctly superior properties when compared to conventional affinity media. The application of these carriers as urease immobilization support incorporated in a conductimetric bioreactor for urea analysis as potential diagnostic device in renal diseases is also described.

  13. Macroscopic Hydatiduria: An Uncommon Pathognomonic Presentation of Renal Hydatid Disease

    PubMed Central

    HAMIDI MADANI, Ali; ENSHAEI, Ahmad; POURREZA, Farshid; ESMAEILI, Samaneh; HAMIDI MADANI, Mohammad

    2015-01-01

    Isolated renal hydatid disease is a rare endemic infestation caused by larval form of Echinococcus granulosus. Hydatiduria is an uncommon presentation of renal hydatid disease. In 2012 a 34-year-old female referred to Razi Hospital, Rasht, Iran with complaints of right flank pain and grape-like material in urine. Diagnosis was made by ultrasonography and CT scan. The patient was treated surgically with nephrectomy in combination with perioperative chemotherapy with albendazol. PMID:26587504

  14. Macroscopic Hydatiduria: An Uncommon Pathognomonic Presentation of Renal Hydatid Disease.

    PubMed

    Hamidi Madani, Ali; Enshaei, Ahmad; Pourreza, Farshid; Esmaeili, Samaneh; Hamidi Madani, Mohammad

    2015-09-01

    Isolated renal hydatid disease is a rare endemic infestation caused by larval form of Echinococcus granulosus. Hydatiduria is an uncommon presentation of renal hydatid disease. In 2012 a 34-year-old female referred to Razi Hospital, Rasht, Iran with complaints of right flank pain and grape-like material in urine. Diagnosis was made by ultrasonography and CT scan. The patient was treated surgically with nephrectomy in combination with perioperative chemotherapy with albendazol. PMID:26587504

  15. [Renal failure and cystic kidney diseases].

    PubMed

    Correas, J-M; Joly, D; Chauveau, D; Richard, S; Hélénon, O

    2011-04-01

    Cystic kidney diseases often are discovered at the time of initial work-up of renal failure through ultrasound or family history, or incidentally at the time of an imaging test. Hereditary diseases include autosomal dominant or recessive polycystic kidney disease (PKD), tuberous sclerosis (TS) and medullary cystic kidney disease (MCKD). Autosomal dominant PKD is characterized by large renal cysts developing in young adults. Renal failure is progressive and becomes severe around 50-60 years of age. Atypical cysts (hemorrhagic or hyperdense) are frequent on CT and MRI examinations. Imaging plays a valuable role in the management of acute complications such as cyst hemorrhage or infection. Autosomal recessive PKD is often detected in neonates, infants or young adults. It is characterized by renal enlargement due to the presence of small cysts and liver disease (fibrosis and biliary ductal dilatation). Late manifestation or slow progression of autosomal recessive PKD may be more difficult to distinguish from autosomal dominant PKD. These cystic kidney diseases should not be confused with non-hereditary incidental multiple renal cysts. In tuberous sclerosis, renal cysts are associated with angiomyolipomas and sometimes pulmonary lymphangioleiomyomatosis. Renal failure is inconstant. Other hereditary cystic kidney diseases, including MCKD and nephronophtisis, are usually associated with renal failure. Non-hereditary cystic kidney diseases include multicystic renal dysplasia (due to complete pelvi-ureteric atresia or hydronephrosis), acquired multicystic kidney disease (chronic renal failure, chronic hemodialysis) and varied cystic kidney diseases (multicystic renal disease, glomerulocystic kidney disease, microcystic kidney disease). PMID:21549887

  16. Bone biopsy in the diagnosis of renal osteodystrophy.

    PubMed

    Spasovski, Goce B

    2004-01-01

    When renal disease develops, mineral and vitamin D homeostasis is disrupted, resulting in diverse manifestations in bone cells and structure as well as the rate of bone turnover. In ESRF when patients require chronic maintenance dialysis, nearly all of them have abnormal bone histology named renal osteodystrophy (ROD). On the other hand, survival rates of patients on dialysis have increased with improved dialytic therapy and the resultant increased duration of dialysis has led to a rise in renal osteodystrophy. Because this metabolic bone disease can produce fractures, bone pain, and deformities late in the course of the disease, prevention and early treatment are essential. Serum PTH levels are commonly used to assess bone turnover in dialyzed patients. However, it is found that serum PTH levels between 65 and 450 pg/ml seen in the majority of dialysis patients are not predictive of the underlying bone disease. To date, bone biopsy is the most powerful and informative diagnostic tool to provide important information on precisely the type of renal osteodystrophy affecting patients, the degree of severity of the lesions, and the presence and amount of aluminum and strontium deposition in bone. Bone biopsy is not only useful in clinical settings but also in research to assess the effects of therapies on bone. Although considered as an invasive procedure, bone biopsy has been proven as safe and free from major complications besides pain, haematoma or wound infections, but the operator's experience and skill is important in minimizing morbidity. Alternatives to bone biopsy continue to be pursued, but the non-invasive bone markers have not been proven to hold sufficient diagnostic performance related to the bone turnover, mineralization process and bone cell abnormality. At present however, the transiliac bone biopsy remains the golden standard in the diagnosis of renal osteodystrophy. PMID:15735537

  17. [Ultrasonic nephrotomography in the differential diagnosis of renal tumors].

    PubMed

    Proca, E; Jovin, G; Lucan, M; Ioiart, I

    1977-01-01

    Renal ultrasonography was performed in 40 patients. Complex exploration was carried out in 12 patients with renal tumours, such as: urography, renal scintigrams, renal arteriography, ultrasonography and cavography. Laminography was proved to be an useful method in the positive and differential diagnosis of renal tumours, especially of cystic ones. Informations provided by this technique are not absolute, and these are some possibilities for errors which operate both ways: omission of malignancies or affirmation of malignancy when the lesion is benign. The method should be considered as complementary in the field of renal investigations and will be interpreted in the general context. PMID:147495

  18. CT and MR imaging for evaluation of cystic renal lesions and diseases.

    PubMed

    Wood, Cecil G; Stromberg, LeRoy J; Harmath, Carla B; Horowitz, Jeanne M; Feng, Chun; Hammond, Nancy A; Casalino, David D; Goodhartz, Lori A; Miller, Frank H; Nikolaidis, Paul

    2015-01-01

    Cystic renal lesions are commonly encountered in abdominal imaging. Although most cystic renal lesions are benign simple cysts, complex renal cysts, infectious cystic renal disease, and multifocal cystic renal disease are also common phenomena. The Bosniak classification system provides a useful means of categorizing cystic renal lesions but places less emphasis on their underlying pathophysiology. Cystic renal diseases can be categorized as focal, multifocal, or infectious lesions. Diseases that manifest with focal lesions, such as cystic renal cell carcinoma, mixed epithelial and stromal tumor, and cystic nephroma, are often difficult to differentiate but have differing implications for follow-up after resection. Multifocal cystic renal lesions can be categorized as acquired or heritable. Acquired entities, such as glomerulocystic kidney disease, lithium-induced nephrotoxicity, acquired cystic kidney disease, multicystic dysplastic kidney, and localized cystic renal disease, often have distinct imaging and clinical features that allow definitive diagnosis. Heritable diseases, such as autosomal dominant polycystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis, are usually easily identified and have various implications for patient management. Infectious diseases have varied imaging appearances, and the possibility of infection must not be overlooked when assessing a cystic renal lesion. A thorough understanding of the spectrum of cystic renal disease will allow the radiologist to make a more specific diagnosis and provide the clinician with optimal recommendations for further diagnostic testing and follow-up imaging. PMID:25590393

  19. Imaging Manifestations of Hematologic Diseases with Renal and Perinephric Involvement.

    PubMed

    Purysko, Andrei S; Westphalen, Antonio C; Remer, Erick M; Coppa, Christopher P; Leão Filho, Hilton M; Herts, Brian R

    2016-01-01

    The kidneys and perinephric tissues can be affected by a variety of hematologic disorders, which usually occur in the setting of multisystem involvement. In many of these disorders, imaging is used to evaluate the extent of disease, guide biopsy, and/or monitor disease activity and patient response to therapy. Lymphoma, leukemia, and multiple myeloma commonly manifest as multiple parenchymal or perinephric lesions. Erdheim-Chester disease and Rosai-Dorfman disease, rare forms of multisystemic histiocytosis, are often identified as perinephric and periureteral masses. Renal abnormalities depicted at imaging in patients with sickle cell disease include renal enlargement, papillary necrosis, and renal medullary carcinoma. Sickle cell disease, along with other causes of intravascular hemolysis, can also lead to hemosiderosis of the renal cortex. Thrombosis of renal veins is sometimes seen in patients with coagulation disorders but more often occurs in association with certain malignancies and nephrotic syndrome. Immunoglobulin G4-related sclerosing disease is another multisystem process that often produces focal renal lesions, seen along with involvement of more characteristic organs such as the pancreas. Perinephric lesions with calcifications should raise the possibility of secondary amyloidosis, especially in patients with a history of lymphoma and multiple myeloma. Although the imaging patterns of renal and perinephric involvement are usually not specific for a single entity, and the same entity can manifest with different or overlapping patterns, familiarity with these patterns and key clinical and histopathologic features may help to narrow the differential diagnosis and determine the next step of care. (©)RSNA, 2016. PMID:27257766

  20. Renal

    MedlinePlus

    ... term "renal" refers to the kidney. For example, renal failure means kidney failure. Related topics: Kidney disease Kidney disease - diet Kidney failure Kidney function tests Renal scan Kidney transplant

  1. Renal disease and chronic renal failure in dental practice.

    PubMed

    Fitzpatrick, J J; Wilson, M H; McArdle, N S; Stassen, L F A

    2008-01-01

    Patients with renal diseases are increasingly common in dental practice. This is due to advances in medicine, and the increasing life expectancy of western populations. Chronic renal failure is a serious condition that general dental practitioners may see in their practice. This article discusses the functions of the kidney, and the causes and medical management of chronic renal failure, as well as considerations in the dental management of these patients. Common complications such as infection and bleeding are discussed. General recommendations are made, based on current evidence with respect to prescribing of medications. PMID:18986093

  2. [Genetic kidney diseases: new perspectives on diagnosis].

    PubMed

    Bouatou, Yassine; Paoloni-Giacobino, Ariane; Parvex, Paloma; De Seigneux, Sophie

    2016-02-24

    Suspected renal inherited disorders are regularly evaluated in nephrology consultations both in adults and children. A positive family history and/or a typical phenotype should lead to genetic investigations. A confirmatory diagnosis integrated in a multidisciplinary genetic counseling approach gives patient guidance for further pregnancy. It also allows physician to better stratify disease risk and indicates treatment in some cases. The time to diagnosis and costs have been dramatically reduced thanks to next generation sequencing in several cases of complex inherited nephrologic syndromes. PMID:27039603

  3. Sickle cell disease: renal manifestations and mechanisms

    PubMed Central

    Nath, Karl A.; Hebbel, Robert P.

    2015-01-01

    Sickle cell disease (SCD) substantially alters renal structure and function, and causes various renal syndromes and diseases. Such diverse renal outcomes reflect the uniquely complex vascular pathobiology of SCD and the propensity of red blood cells to sickle in the renal medulla because of its hypoxic, acidotic, and hyperosmolar conditions. Renal complications and involvement in sickle cell nephropathy (SCN) include altered haemodynamics, hypertrophy, assorted glomerulopathies, chronic kidney disease, acute kidney injury, impaired urinary concentrating ability, distal nephron dysfunction, haematuria, and increased risks of urinary tract infections and renal medullary carcinoma. SCN largely reflects an underlying vasculopathy characterized by cortical hyperperfusion, medullary hypoperfusion, and an increased, stress-induced vasoconstrictive response. Renal involvement is usually more severe in homozygous disease (sickle cell anaemia, HbSS) than in compound heterozygous types of SCD (for example HbSC and HbSβ+-thalassaemia), and is typically mild, albeit prevalent, in the heterozygous state (sickle cell trait, HbAS). Renal involvement contributes substantially to the diminished life expectancy of patients with SCD, accounting for 16–18% of mortality. As improved clinical care promotes survival into adulthood, SCN imposes a growing burden on both individual health and health system costs. This Review addresses the renal manifestations of SCD and focuses on their underlying mechanisms. PMID:25668001

  4. Purinergic signaling in inflammatory renal disease

    PubMed Central

    Arulkumaran, Nishkantha; Turner, Clare M.; Sixma, Marije L.; Singer, Mervyn; Unwin, Robert; Tam, Frederick W. K.

    2013-01-01

    Extracellular purines have a role in renal physiology and adaption to inflammation. However, inflammatory renal disease may be mediated by extracellular purines, resulting in renal injury. The role of purinergic signaling is dependent on the concentrations of extracellular purines. Low basal levels of purines are important in normal homeostasis and growth. Concentrations of extracellular purines are significantly elevated during inflammation and mediate either an adaptive role or propagate local inflammation. Adenosine signaling mediates alterations in regional renal blood flow by regulation of the renal microcirculation, tubulo-glomerular feedback, and tubular transport of sodium and water. Increased extracellular ATP and renal P2 receptor-mediated inflammation are associated with various renal diseases, including hypertension, diabetic nephropathy, and glomerulonephritis. Experimental data suggests P2 receptor deficiency or receptor antagonism is associated with amelioration of antibody-mediated nephritis, suggesting a pathogenic (rather than adaptive) role of purinergic signaling. We discuss the role of extracellular nucleotides in adaptation to ischemic renal injury and in the pathogenesis of inflammatory renal disease. PMID:23908631

  5. Image diagnosis of parathyroid glands in chronic renal failure

    SciTech Connect

    Takagi, H.; Tominaga, Y.; Uchida, K.; Yamada, N.; Morimoto, T.; Yasue, M.

    1983-07-01

    Twenty-two out of 31 patients with chronic renal failure and secondary hyperparathyroidism who underwent parathyroidectomy before operation underwent non-invasive image diagnosis of parathyroid glands by computed tomography (CT), scintigraphy with /sup 201/TlCl and /sup 99m/TcO/sup 4 +/, and/or ultrasonography. CT visualized 39 of 45 parathyroid glands (86.7%), weighing more than 500 mg. Scintigraphy with a subtraction method using a computer performed the diagnosis in 19 of 27 glands (70.4%). Ultrasonography detected 21 of 27 glands (77.8%). Image diagnosis was also useful in the postoperative follow-up study. The non-invasive image diagnosis of parathyroid glands in patients with chronic renal failure is thus valuable for 1) definite diagnosis of secondary hyperparathyroidism, 2) localization, and 3) diagnosis for effectiveness of conservative treatment.

  6. Mitochondrial dysfunction in inherited renal disease and acute kidney injury.

    PubMed

    Emma, Francesco; Montini, Giovanni; Parikh, Samir M; Salviati, Leonardo

    2016-05-01

    Mitochondria are increasingly recognized as key players in genetic and acquired renal diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by tubular defects, but glomerular, tubulointerstitial and cystic diseases have also been described. For example, defects in coenzyme Q10 (CoQ10) biosynthesis and the mitochondrial DNA 3243 A>G mutation are important causes of focal segmental glomerulosclerosis in children and in adults, respectively. Although they sometimes present with isolated renal findings, mitochondrial diseases are frequently associated with symptoms related to central nervous system and neuromuscular involvement. They can result from mutations in nuclear genes that are inherited according to classic Mendelian rules or from mutations in mitochondrial DNA, which are transmitted according to more complex rules of mitochondrial genetics. Diagnosis of mitochondrial disorders involves clinical characterization of patients in combination with biochemical and genetic analyses. In particular, prompt diagnosis of CoQ10 biosynthesis defects is imperative because of their potentially reversible nature. In acute kidney injury (AKI), mitochondrial dysfunction contributes to the physiopathology of tissue injury, whereas mitochondrial biogenesis has an important role in the recovery of renal function. Potential therapies that target mitochondrial dysfunction or promote mitochondrial regeneration are being developed to limit renal damage during AKI and promote repair of injured tissue. PMID:26804019

  7. Early origin of adult renal disease.

    PubMed

    Maringhini, Silvio; Corrado, Ciro; Maringhini, Guido; Cusumano, Rosa; Azzolina, Vitalba; Leone, Francesco

    2010-10-01

    Observational studies in humans and experimental studies in animals have clearly shown that renal failure may start early in life. 'Fetal programming' is regulated by adaptations occurring in uterus including maternal nutrition, placental blood supply, and epigenetic changes. Low birth weight predisposes to hypertension and renal insufficiency. Congenital abnormalities of the kidney and urinary tract, adverse postnatal events, wrong nutritional habits may produce renal damage that will become clinically relevant in adulthood. Prevention should start early in children at risk of renal disease. PMID:20822331

  8. Renal calculi: emergency department diagnosis and treatment.

    PubMed

    Carter, Michelle R; Green, Brad R

    2011-07-01

    The acute treatment of kidney stones (urolithiasis) addresses pain management and focuses on the effects of the morbidity associated with an obstructed renal system. Minimal fluid intake, resulting in decreased urine production and a high concentration of stone-forming salts, is a leading factor in renal calculi development. Radio-opaque calcareous stones account for 70% to 75% of renal calculi. Microscopic hematuria in the presence of acute flank pain is suggestive of renal colic, but the absence of red blood cells does not exclude urolithiasis. Furthermore, many inflammatory and infectious conditions cause hematuria, demonstrating the low specificity of urinalysis testing. The diagnostic modality of choice is a noncontrast computed tomography (CT); ultrasonography s preferred in pregnant patients and children. Combining opioids with non-steroidal anti-inflammatory drugs (NSAIDs) is the optimal evidence-based regimen to treat severe symptoms. Rapid intravenous (IV) hydration has not shown a benefit. Potentially life-threatening diagnoses including abdominal aortic aneurysm, ovarian torsion, and appendicitis may mimic renal colic and must be ruled out. PMID:22164398

  9. Molecular differential diagnosis of renal cell carcinomas by microsatellite analysis.

    PubMed Central

    Bugert, P.; Kovacs, G.

    1996-01-01

    Recent application of molecular cytogenetic techniques has resulted in a new type of genetic classification of renal cell tumors. The key aspect of the novel diagnostic concept is reflected by biologically distinct entities, each characterized by a specific combination of genetic changes. To work out a diagnostic/prognostic approach, we have applied polymorphic microsatellite markers for a quick analysis, based on polymerase chain reaction, of 82 tumor specimens. We compared the results to previously evaluated cytogenetic and histological data. All nonpapillary and chromophobe renal cell carcinomas, which make up approximately 90% of all malignant renal cell tumors, and a subset of renal oncocytomas were correctly diagnosed by detection of loss of heterozygosity at chromosomal sites 1, 2, and 3p. Allelic losses at chromosomal regions 8p, 9p, and 14q are associated with an advanced pathological stage of nonpapillary renal cell carcinomas. A loss of heterozygosity at chromosomes 6, 10, 13, 17, and 21, in addition to those at chromosomes 1 and 2, confirm the diagnosis of chromophobe renal cell tumors. Using this approach, the differential diagnosis of renal cell tumors could be carried out within 1 or 2 days. Images Figure 2 PMID:8952540

  10. Renal disease associated with colic in horses.

    PubMed

    Seanor, J W; Byars, T D; Boutcher, J K

    1984-05-01

    Renal dysfunction secondary to GI disorders may be relatively common in horses. Persistent dehydration of 8-10% of body weight can lead to prerenal azotemia, which may result in renal ischemia and renal disease if uncorrected. Dehydrated azotemic horses with a urine specific gravity less than 1.018 may have renal disease. Urine specific gravity readings greater than 1.025 usually indicate normal kidney function. A urine Na level less than 20 mEq/L and a urine/plasma creatinine ratio greater than or equal to 20:1 indicate prerenal problems. Use of nephrotoxic drugs should be avoided in septicemic or dehydrated horses. Salmonellosis and proximal enteritis often lead to renal complications. Renal disease associated with DIC warrants a poor prognosis. Treatment of acute renal failure is aimed at eliminating the underlying cause and correcting metabolic abnormalities. Use of IV fluids, dopamine, prostaglandin inhibitors, fresh and electrolyte-spiked water ad libitum, water-soluble vitamins and high-P diets is beneficial. Success of therapy should be judged by laboratory results rather than clinical impressions. PMID:6738502

  11. About Alzheimer's Disease: Diagnosis

    MedlinePlus

    ... Understanding Memory Loss . What are options for further assessment and diagnosis? If a primary care doctor suspects ... decide to go to a specialist for further assessment. You can find specialists through memory clinics and ...

  12. Celiac Disease Diagnosis and Management

    PubMed Central

    Leffler, Daniel

    2012-01-01

    Celiac disease is one of the most prevalent autoimmune gastrointestinal disorders but as the case of Ms. J illustrates, diagnosis is often delayed or missed. Based on serology studies, the prevalence of celiac disease in many populations is estimated to be approximately 1% and has been increasing steadily over the last 50 years. Evaluation for celiac disease is generally straightforward, and uses commonly available serologic tests, however the signs and symptoms of celiac disease are nonspecific and highly heterogeneous making diagnosis difficult. While celiac disease is often considered a mild disorder treatable with simple dietary changes, in reality celiac disease imparts considerable risks including reduced bone mineral density, impaired quality of life, and increased overall mortality. In addition, the gluten free diet is highly burdensome and can profoundly affect patients and their families. For these reasons, care of individuals with celiac disease requires prompt diagnosis and ongoing multidisciplinary management. PMID:21990301

  13. Non-Diabetic renal disease in Diabetes Mellitus: clinical features and renal biopsy findings

    PubMed Central

    Yenigun, E C; Dede, F; Ozturk, R; Turgut, D; Koc, E; Piskinpasa, S V; Ozkayar, N; Odabas, A R

    2015-01-01

    Aim Renal diseases in diabetes mellitus (DM) patients, include diabetic nephropathies (DN) and non-diabetic renal diseases (NDRD). The clinical differentiation among them is usually not so clear and effective. Aim of this study which examined renal biopsies in patients with type-2 DM was to identify the prevalence and the nature of NDRD. Materials and Methods We recorded the clinical and laboratory finding alongside with the histopathological examination of the renal biopsies obtained from 71 type-2 DM patients who underwent renal biopsy in our center. Based on the renal biopsy findings patients were classified into two groups (DN and NDRD) and data was compared between the two groups. Results There were 42 women and 29 men; aged 55 ± 12 years. In patients with DN (n: 34), diabetic retinopathy was more common [16 (47.1 %) vs. 6 (16.2 %) respectively, p =0.01], duration of DM was longer (108.8 ± 58.8 months vs 57.8 ± 55.9 months respectively, p <0.001) and the degree of proteinuria was more severe (6 ± 4.3 g/day vs. 4.5 ± 4.6 g/day respectively, p =0.04) compared to the patients with NDRD. Regression analysis revealed that diabetes duration >60 months, presence of diabetic retinopathy and proteinuria >3.5 g/day were independent predictors of DN with 79.4 % sensitivity and 86.5% specificity. Focal segmental glomerulosclerosis was the most frequent diagnosis in patients with NDRD. Conclusions The prevalence of NDRD is remarkably frequent in DM patients in whom nephrologists consider renal biopsy an appropriate measure. Short duration of DM, degree of proteinuria and absence of retinopathy were predictors of NDRD. Hippokratia 2015; 19 (2):148-152.

  14. Renal masses in children. An integrated imaging approach to diagnosis

    SciTech Connect

    Wolfson, B.J.; Gainey, M.A.; Faerber, E.N.; Capitanio, M.A.

    1985-11-01

    In view of the continuing technologic advancements in the development and availability of diagnostic imaging modalities, it is appropriate to assess periodically the currently accepted approaches to the evaluation of renal masses in children. The roles, advantages, and disadvantages of plain film, intravenous urography, ultrasonography, radionuclide scintigraphy, computed tomography, angiography, and magnetic resonance imaging in the approach to the evaluation of renal masses in children are discussed. An integrated imaging approach that provides the most accurate and necessary information for diagnosis and treatment is recommended. 70 references.

  15. Diagnostic imaging in pediatric renal inflammatory disease

    SciTech Connect

    Sty, J.R.; Wells, R.G.; Schroeder, B.A.; Starshak, R.J.

    1986-08-15

    Some form of imaging procedure should be used to document the presence of infection of the upper urinary tract in troublesome cases in children. During the past several years, sonography, nuclear radiology, and computed tomography (CT) have had a significant influence on renal imaging. The purpose of this article is to reevaluate the noninvasive imaging procedures that can be used to diagnose pediatric renal inflammatory disease and to assess the relative value of each modality in the various types of renal infection. The authors will not discuss the radiologic evaluation of the child who has had a previous renal infection, in whom cortical scarring or reflux nephropathy is a possibility; these are different clinical problems and require different diagnostic evaluation.

  16. Clinicopathologic findings associated with chronic renal disease in cats: 74 cases (1973-1984).

    PubMed

    DiBartola, S P; Rutgers, H C; Zack, P M; Tarr, M J

    1987-05-01

    The historic, physical, laboratory, and histologic findings for 74 cats with chronic renal disease were reviewed. Most cats were older, and no breed or sex predilection was detected. This most common clinical signs detected by owners were lethargy, anorexia, and weight loss. Dehydration and emaciation were common physical examination findings. Common laboratory findings were nonregenerative anemia, lymphopenia, azotemia, hypercholesterolemia, metabolic acidosis, hyperphosphatemia, and isosthenuria. The most common morphologic diagnosis was chronic tubulointerstitial nephritis of unknown cause. The other pathologic diagnoses were renal lymphosarcoma, renal amyloidosis, chronic pyelonephritis, chronic glomerulonephritis, polycystic renal disease, and pyogranulomatous nephritis secondary to feline infectious peritonitis. PMID:3583899

  17. Diagnosis and treatment of diabetic kidney disease.

    PubMed

    Gosmanov, Aidar R; Wall, Barry M; Gosmanova, Elvira O

    2014-05-01

    Diabetic kidney disease (DKD) is the most common cause of chronic kidney disease in the United States. In the last several years, there have been several new developments in the field of the DKD. In 2007, the National Kidney Foundation and Kidney Disease Outcomes Quality Initiative released clinical practice guidelines that included new definitions and summarized diagnostic and therapeutic approaches for DKD. The results of several recent randomized controlled trials provided novel insights regarding effects of glycemic and lipid control on vascular and renal outcomes in patients with diabetes. Additionally, the findings of the Action to Control Cardiovascular Risk in Diabetes-Blood Pressure trial played a critical role in the revision of blood pressure target guidelines in patients with diabetes. The goal of this review article is to summarize recent updates and recommendations for the diagnosis and treatment of DKD. PMID:24553399

  18. 28 CFR 79.57 - Proof of chronic renal disease.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 28 Judicial Administration 2 2011-07-01 2011-07-01 false Proof of chronic renal disease. 79.57... disease. (a) In determining whether a claimant developed chronic renal disease following pertinent... conclusion that a claimant developed chronic renal disease must be supported by medical documentation. (b)...

  19. 28 CFR 79.57 - Proof of chronic renal disease.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 28 Judicial Administration 2 2014-07-01 2014-07-01 false Proof of chronic renal disease. 79.57... disease. (a) In determining whether a claimant developed chronic renal disease following pertinent... conclusion that a claimant developed chronic renal disease must be supported by medical documentation. (b)...

  20. 28 CFR 79.57 - Proof of chronic renal disease.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 28 Judicial Administration 2 2012-07-01 2012-07-01 false Proof of chronic renal disease. 79.57... disease. (a) In determining whether a claimant developed chronic renal disease following pertinent... conclusion that a claimant developed chronic renal disease must be supported by medical documentation. (b)...

  1. 28 CFR 79.57 - Proof of chronic renal disease.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 28 Judicial Administration 2 2013-07-01 2013-07-01 false Proof of chronic renal disease. 79.57... disease. (a) In determining whether a claimant developed chronic renal disease following pertinent... conclusion that a claimant developed chronic renal disease must be supported by medical documentation. (b)...

  2. End-stage renal disease and thrombophilia.

    PubMed

    Bauer, Alexander; Limperger, Verena; Nowak-Göttl, Ulrike

    2016-05-10

    Chronic kidney disease is an established risk factor for arterial and venous thromboembolism (TE). Whereas the overall risk of TE in moderately decreased kidney function is approximately 2.5-fold higher compared to patients with normal renal function, the risk increase is 5.5-fold in patients with severe renal dysfunction. In patients with renal dysfunction and arterial thrombosis (OR: 4.9), malignancy (OR: 5.8) surgery (OR: 14.0) or thrombophilia (OR: 4.3) the risk to suffer from venous TE is higher compared to the risk associated to the baseline renal dysfunction alone. The treatment options for end-stage renal diseases include hemodialysis, peritoneal dialysis and kidney transplantation. During all treatment modalities thrombotic complications have been described, namely catheter malfunction and shunt thrombosis in patients undergoing hemodialysis in up to 25% of patients, and TE, pulmonary embolism or graft vessel thrombosis in approximately 8% of patients. The reported incidence of reno-vascular thrombosis following renal transplantation leading to hemorrhagic infarction with organ rejection or organ loss varied between 2-12%. Keeping in mind the multifactorial etiology of TE in patients with kidney dysfunction a general screening for thrombophilia in this patient group is not indicated. Selected screening on an individual patient basis should be discussed if the family history for TE is positive or the patient itself had suffered one thrombosis before the onset of the renal disease or multiple TEs during hemodialysis or post kidney transplantation in patients waiting for living donor kidney transplantation. PMID:25639843

  3. Renal biopsy and pathologic evaluation of glomerular disease.

    PubMed

    Lees, George E; Cianciolo, Rachel E; Clubb, Fred J

    2011-08-01

    Presence of suspected primary glomerular disease is the most common and compelling reason to consider renal biopsy. Pathologic findings in samples from animals with nephritic or nephrotic glomerulopathies, as well as from animals with persistent subclinical glomerular proteinuria that is not associated with advanced chronic kidney disease, frequently guide treatment decisions and inform prognosis when suitable specimens are obtained and examined appropriately. Ultrasound-guided needle biopsy techniques generally are satisfactory; however, other methods of locating or approaching the kidney, such as manual palpation (e.g., in cats), laparoscopy, or open surgery, also can be used. Visual assessment of the tissue content of needle biopsy samples to verify that they are renal cortex (i.e., contain glomeruli) as they are obtained is a key step that minimizes the submission of uninformative samples for examination. Adequate planning for a renal biopsy also requires prior procurement of the fixatives and preservatives needed to process and submit samples that will be suitable for electron microscopic examination and immunostaining, as well as for light microscopic evaluation. Finally, to be optimally informative, renal biopsy specimens must be processed by laboratories that routinely perform the required specialized examinations and then be evaluated by experienced veterinary nephropathologists. The pathologic findings must be carefully integrated with one another and with information derived from the clinical investigation of the patient's illness to formulate the correct diagnosis and most informative guidance for therapeutic management of the animal's glomerular disease. PMID:21782145

  4. Mitochondrial Sirtuin 3 and Renal Diseases.

    PubMed

    Perico, Luca; Morigi, Marina; Benigni, Ariela

    2016-01-01

    Mitochondria are dynamic organelles whose functions are tightly regulated at multiple levels to maintain proper cellular homeostasis. Mitochondrial Sirtuin 3 (SIRT3), which belongs to an evolutionary conserved family of NAD+-dependent deacetylases, is a key regulator of the mitochondrial respiratory chain, ATP production, and fatty acid β-oxidation, and it exerts an antioxidant activity. Changes in SIRT3 expression are critical in the pathophysiology of several diseases, such as metabolic syndrome, diabetes, cancer, and aging. In experimental acute kidney injury (AKI), impairment of renal function and development of tubular injury are associated with SIRT3 reduction and mitochondrial dysfunction in proximal tubuli. SIRT3-deficient mice are more susceptible to AKI and die. Pharmacological manipulations able to increase SIRT3 preserve mitochondrial integrity, markedly limit renal injury, and accelerate functional recovery. This review highlights all the selective rescue mechanisms that point to the key role of SIRT3 as a new therapeutic target for curing renal diseases. PMID:27362524

  5. Transplant renal artery stenosis: clinical manifestations, diagnosis and therapy.

    PubMed

    Chen, Wei; Kayler, Liise K; Zand, Martin S; Muttana, Renu; Chernyak, Victoria; DeBoccardo, Graciela O

    2015-02-01

    Transplant renal artery stenosis (TRAS) is a well-recognized vascular complication after kidney transplant. It occurs most frequently in the first 6 months after kidney transplant, and is one of the major causes of graft loss and premature death in transplant recipients. Renal hypoperfusion occurring in TRAS results in activation of the renin-angiotensin-aldosterone system; patients usually present with worsening or refractory hypertension, fluid retention and often allograft dysfunction. Flash pulmonary edema can develop in patients with critical bilateral renal artery stenosis or renal artery stenosis in a solitary kidney, and this unique clinical entity has been named Pickering Syndrome. Prompt diagnosis and treatment of TRAS can prevent allograft damage and systemic sequelae. Duplex sonography is the most commonly used screening tool, whereas angiography provides the definitive diagnosis. Percutaneous transluminal angioplasty with stent placement can be performed during angiography if a lesion is identified, and it is generally the first-line therapy for TRAS. However, there is no randomized controlled trial examining the efficacy and safety of percutaneous transluminal angioplasty compared with medical therapy alone or surgical intervention. PMID:25713713

  6. Disease, diagnosis or syndrome?

    PubMed

    Pearce, J M S

    2011-04-01

    The advance of medical semantics is, in general, towards causation. As knowledge increases, the common consequence is the re-definition of disease. This starts with symptoms then a disorder of structure or function, abnormalities of images, genetics or biochemistry, the ultimate aim being a specific aetiological mechanism which replaces broader descriptions. But medical terminology of diseases, diagnoses and syndromes is inherently imprecise. Careless nomenclature causes confused dialogue and communication. Symptoms of uncertain cause are commonly lumped together and given a new 'diagnostic' label which also may confuse and produce false concepts that stultify further thought and research. Such medicalisation of non-specific aggregations of symptoms should be avoided. The defining characteristics of diseases and diagnoses should be validated and agreed. The pragmatic diagnoses of 'symptom of unknown cause' or 'non-disease' are preferable to falsely labelling patients with obscure or non-existent diseases. "I tried to unveil the stillness of existence through a counteracting murmur of words, and, above all, I confused things with their names: that is belief." Jean-Paul Sartre (The Words, 1964). PMID:21385966

  7. Renal involvement in autoimmune connective tissue diseases

    PubMed Central

    2013-01-01

    Connective tissue diseases (CTDs) are a heterogeneous group of disorders that share certain clinical presentations and a disturbed immunoregulation, leading to autoantibody production. Subclinical or overt renal manifestations are frequently observed and complicate the clinical course of CTDs. Alterations of kidney function in Sjögren syndrome, systemic scleroderma (SSc), auto-immune myopathies (dermatomyositis and polymyositis), systemic lupus erythematosus (SLE), antiphospholipid syndrome nephropathy (APSN) as well as rheumatoid arthritis (RA) are frequently present and physicians should be aware of that. In SLE, renal prognosis significantly improved based on specific classification and treatment strategies adjusted to kidney biopsy findings. Patients with scleroderma renal crisis (SRC), which is usually characterized by severe hypertension, progressive decline of renal function and thrombotic microangiopathy, show a significant benefit of early angiotensin-converting-enzyme (ACE) inhibitor use in particular and strict blood pressure control in general. Treatment of the underlying autoimmune disorder or discontinuation of specific therapeutic agents improves kidney function in most patients with Sjögren syndrome, auto-immune myopathies, APSN and RA. In this review we focus on impairment of renal function in relation to underlying disease or adverse drug effects and implications on treatment decisions. PMID:23557013

  8. Early diagnosis of acute postoperative renal transplant rejection

    SciTech Connect

    Tisdale, P.L.; Collier, B.D.; Kauffman, H.M.; Adams, M.B.; Isitman, A.T.; Hellman, R.S.; Rao, S.A.; Joestgen, T.; Krohn, L.

    1985-05-01

    A prospective evaluation of In-111 labeled autologous platelet scintigraphy for the early diagnosis of acute postoperative renal transplant rejection was undertaken. To date, 28 consecutive patients between 7 and 14 days post-op have been injected with 500..mu..Ci of In-111 platelets followed by imaging at 24 and 48 hours. Activity within the renal transplant exceeding activity in the adjacent iliac vessels was considered to be evidence of rejection, and both chemical evidence and clinical impression of rejection at 5 days after completion of imaging was accepted as proof of ongoing or incipient rejection at the time of scintigraphy. In addition, to visual inspection, independent quantitative analysis compared the area-normalized activity over the transplant with the adjacent iliac vessels (normal <1.0). For 5 patients, positive In-111 scintigraphy was present before convincing clinical evidence of rejection. In-111 platelet scintigraphy is useful not only to confirm the clinical diagnosis of rejection but also to establish the early, pre-clinical diagnosis of incipient acute postoperative renal transplant rejection.

  9. Castleman Disease Presenting as Renal Hilar Mass

    PubMed Central

    Radfar, Mohammad Hadi; Torbati, Peyman

    2015-01-01

    Abstract Background: We report a case of unicentric Castleman disease, a rare type of benign proliferation of lymphoid tissue. We present an uncommon disease that was managed effectively using laparoscopy. Case Presentation: A 32-year-old woman presented with left-sided flank pain. A large retroperitoneal mass was detected in the left renal hilum close to the renal vessels. Laparoscopic removal of the mass was effectively performed. The pathologic examination was in favor of a rare type of benign proliferation of lymphoid tissue compatible with Castleman disease. The patient was cured with no evidence of recurrence in 1-year follow-up. Conclusion: Transperitoneal laparoscopic approach is feasible and effective in the management of this disease and is curative.

  10. 42 CFR 441.40 - End-stage renal disease.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 4 2013-10-01 2013-10-01 false End-stage renal disease. 441.40 Section 441.40... General Provisions § 441.40 End-stage renal disease. FFP in expenditures for services described in subpart A of part 440 is available for facility treatment of end-stage renal disease only if the...

  11. 42 CFR 441.40 - End-stage renal disease.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 4 2012-10-01 2012-10-01 false End-stage renal disease. 441.40 Section 441.40... General Provisions § 441.40 End-stage renal disease. FFP in expenditures for services described in subpart A of part 440 is available for facility treatment of end-stage renal disease only if the...

  12. 42 CFR 441.40 - End-stage renal disease.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false End-stage renal disease. 441.40 Section 441.40... General Provisions § 441.40 End-stage renal disease. FFP in expenditures for services described in subpart A of part 440 is available for facility treatment of end-stage renal disease only if the...

  13. 42 CFR 441.40 - End-stage renal disease.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 4 2011-10-01 2011-10-01 false End-stage renal disease. 441.40 Section 441.40... General Provisions § 441.40 End-stage renal disease. FFP in expenditures for services described in subpart A of part 440 is available for facility treatment of end-stage renal disease only if the...

  14. 42 CFR 441.40 - End-stage renal disease.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 4 2014-10-01 2014-10-01 false End-stage renal disease. 441.40 Section 441.40... General Provisions § 441.40 End-stage renal disease. FFP in expenditures for services described in subpart A of part 440 is available for facility treatment of end-stage renal disease only if the...

  15. Dental considerations for the patient with renal disease receiving hemodialysis.

    PubMed

    De Rossi, S S; Glick, M

    1996-02-01

    An increasing number of Americans are living with end-stage renal disease. This disease has many implications for dentistry, in terms of oral manifestations and management of afflicted patients. The authors present pertinent information to help dentists treat patients who exhibit the oral and systemic manifestations of renal disease, from the onset of renal impairment through hemodialysis. PMID:8682990

  16. Fetal environment, epigenetics, and pediatric renal disease.

    PubMed

    Woroniecki, Robert; Gaikwad, Anil Bhanudas; Susztak, Katalin

    2011-05-01

    The notion that some adult diseases may have their origins in utero has recently captured scientists' attention. Some of these effects persist across generations and may involve epigenetic mechanisms. Epigenetic modifications, DNA methylation together with covalent modifications of histones, alter chromatin density and accessibility of DNA to cellular machinery, modulating the transcriptional potential of the underlying DNA sequence. Here, we will discuss the different epigenetic modifications and their potential role in and contribution to renal disease development. PMID:21174217

  17. Network Approach to Disease Diagnosis

    NASA Astrophysics Data System (ADS)

    Sharma, Amitabh; Bashan, Amir; Barabasi, Alber-Laszlo

    2014-03-01

    Human diseases could be viewed as perturbations of the underlying biological system. A thorough understanding of the topological and dynamical properties of the biological system is crucial to explain the mechanisms of many complex diseases. Recently network-based approaches have provided a framework for integrating multi-dimensional biological data that results in a better understanding of the pathophysiological state of complex diseases. Here we provide a network-based framework to improve the diagnosis of complex diseases. This framework is based on the integration of transcriptomics and the interactome. We analyze the overlap between the differentially expressed (DE) genes and disease genes (DGs) based on their locations in the molecular interaction network (''interactome''). Disease genes and their protein products tend to be much more highly connected than random, hence defining a disease sub-graph (called disease module) in the interactome. DE genes, even though different from the known set of DGs, may be significantly associated with the disease when considering their closeness to the disease module in the interactome. This new network approach holds the promise to improve the diagnosis of patients who cannot be diagnosed using conventional tools. Support was provided by HL066289 and HL105339 grants from the U.S. National Institutes of Health.

  18. Celiac disease: diagnosis and management.

    PubMed

    Pelkowski, Timothy D; Viera, Anthony J

    2014-01-15

    Celiac disease is an autoimmune disorder of the gastrointestinal tract. It is triggered by exposure to dietary gluten in genetically susceptible individuals. Gluten is a storage protein in wheat, rye, and barley, which are staples in many American diets. Celiac disease is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the small intestinal villi and subsequent malabsorption. The condition may develop at any age. Intestinal manifestations include diarrhea and weight loss. Common extraintestinal manifestations include iron deficiency anemia, decreased bone mineral density, and neuropathy. Most cases of celiac disease are diagnosed in persons with extraintestinal manifestations. The presence of dermatitis herpetiformis is pathognomonic for celiac disease. Diagnosis is supported by a positive tissue transglutaminase serologic test but, in general, should be confirmed by a small bowel biopsy showing the characteristic histology associated with celiac disease. The presence of human leukocyte antigen alleles DQ2, DQ8, or both is essential for the development of celiac disease, and can be a useful genetic test in select instances. Treatment of celiac disease is a gluten-free diet. Dietary education should focus on identifying hidden sources of gluten, planning balanced meals, reading labels, food shopping, dining out, and dining during travel. About 5% of patients with celiac disease are refractory to a gluten-free diet. These patients should be referred to a gastroenterologist for reconsideration of the diagnosis or for aggressive treatment of refractory celiac disease, which may involve corticosteroids and immunomodulators. PMID:24444577

  19. Asymmetric Dimethylarginine, Endothelial Dysfunction and Renal Disease

    PubMed Central

    Aldámiz-Echevarría, Luis; Andrade, Fernando

    2012-01-01

    l-Arginine (Arg) is oxidized to l-citrulline and nitric oxide (NO) by the action of endothelial nitric oxide synthase (NOS). In contrast, protein-incorporated Arg residues can be methylated with subsequent proteolysis giving rise to methylarginine compounds, such as asymmetric dimethylarginine (ADMA) that competes with Arg for binding to NOS. Most ADMA is degraded by dimethylarginine dimethyaminohydrolase (DDAH), distributed widely throughout the body and regulates ADMA levels and, therefore, NO synthesis. In recent years, several studies have suggested that increased ADMA levels are a marker of atherosclerotic change, and can be used to assess cardiovascular risk, consistent with ADMA being predominantly absorbed by endothelial cells. NO is an important messenger molecule involved in numerous biological processes, and its activity is essential to understand both pathogenic and therapeutic mechanisms in kidney disease and renal transplantation. NO production is reduced in renal patients because of their elevated ADMA levels with associated reduced DDAH activity. These factors contribute to endothelial dysfunction, oxidative stress and the progression of renal damage, but there are treatments that may effectively reduce ADMA levels in patients with kidney disease. Available data on ADMA levels in controls and renal patients, both in adults and children, also are summarized in this review. PMID:23109853

  20. Recurrent and de novo disease after renal transplantation: a report from the Renal Allograft Disease Registry.

    PubMed

    Hariharan, Sundaram; Savin, Virginia J

    2004-08-01

    Recurrent and de novo disease is an increasing problem and is known to negatively impact transplant graft survival. Immunosuppressive medications have not had an impact on the prevalence of recurrent and de novo disease. Renal Allograft Disease Registry (RADR) was established to study the prevalence, impact and risk factors for the development of recurrent and de novo disease. Retrospective and prospective study on recurrent disease is discussed in this manuscript. PMID:15265160

  1. Pattern and outcome of renal diseases in hospitalized children in Khartoum State, Sudan*

    PubMed Central

    Rahman, Amal H. A; Karrar, Zein A.

    2012-01-01

    In developing countries, renal diseases in children constitute important causes of morbidity and mortality. In Sudan, data about patterns and outcome of these disorders is generally scanty. We conducted this study to provide basic renal data that may be utilized by researchers and health planners in a resource poor setting. A retrospective record review of all pediatric patients, followed in four teaching hospitals in Khartoum State over a five-year period (January 2000-June 2004), was achieved. In 150 hospitalized children a total of 200 renal diagnoses were recorded. Urinary tract infection (UTI), occurring with other underlying renal morbidities or isolated, was the commonest renal diagnosis (20%). The second common renal disorders were nephrotic syndrome (NS) and urolithiasis/stones accounting for 16% and 15.5% of cases, respectively. Acute glomerulonephritis (AGN) and congenital anomalies were relatively less common (12% and 10.5%, respectively). Other less frequently detected diseases were acute renal failure (ARF) in 6%, chronic renal failure (CRF) in 4%, hereditary nephropathies in 3.5% and renal tumors in 2.5%. There was a significant correlation between the pattern of renal diseases and age of patients (P =0.001) but not their gender or social class (P = 0.211 and 0.34, respectively). On follow up, 99 out of 150 patients (66%) recovered their normal renal function, 6/150 (4%) remained with persistent proteinuria, 30/150 (20%) progressed to CRF, 10/150 (6.7%) died, and 5/150 (3.3%) were referred to radiotherapy department for further management. Our data reflects geographical variations of patterns of renal diseases in Sudanese children as in other countries. Many of these diseases are preventable or potentially curable. Therefore, improvement of pediatric renal services and training of health workers would help in early detection and treatment of these conditions leading to reduction in their morbidity and mortality.

  2. Oxidant Mechanisms in Renal Injury and Disease

    PubMed Central

    Ratliff, Brian B.; Abdulmahdi, Wasan; Pawar, Rahul

    2016-01-01

    Abstract Significance: A common link between all forms of acute and chronic kidney injuries, regardless of species, is enhanced generation of reactive oxygen species (ROS) and reactive nitrogen species (RNS) during injury/disease progression. While low levels of ROS and RNS are required for prosurvival signaling, cell proliferation and growth, and vasoreactivity regulation, an imbalance of ROS and RNS generation and elimination leads to inflammation, cell death, tissue damage, and disease/injury progression. Recent Advances: Many aspects of renal oxidative stress still require investigation, including clarification of the mechanisms which prompt ROS/RNS generation and subsequent renal damage. However, we currently have a basic understanding of the major features of oxidative stress pathology and its link to kidney injury/disease, which this review summarizes. Critical Issues: The review summarizes the critical sources of oxidative stress in the kidney during injury/disease, including generation of ROS and RNS from mitochondria, NADPH oxidase, and inducible nitric oxide synthase. The review next summarizes the renal antioxidant systems that protect against oxidative stress, including superoxide dismutase and catalase, the glutathione and thioredoxin systems, and others. Next, we describe how oxidative stress affects kidney function and promotes damage in every nephron segment, including the renal vessels, glomeruli, and tubules. Future Directions: Despite the limited success associated with the application of antioxidants for treatment of kidney injury/disease thus far, preventing the generation and accumulation of ROS and RNS provides an ideal target for potential therapeutic treatments. The review discusses the shortcomings of antioxidant treatments previously used and the potential promise of new ones. Antioxid. Redox Signal. 25, 119–146. PMID:26906267

  3. Early diagnosis of Parkinson's disease.

    PubMed

    Becker, Georg; Müller, Antje; Braune, Stefan; Büttner, Thomas; Benecke, Reiner; Greulich, Wolfgang; Klein, Wolfgang; Mark, Günter; Rieke, Jürgen; Thümler, Reiner

    2002-10-01

    In idiopathic Parkinson's disease (IPD) approximately 60 % of the nigrostriatal neurons of the substantia nigra (SN) are degenerated before neurologists can establish the diagnosis according to the widely accepted clinical diagnostic criteria. It is conceivable that neuroprotective therapy starting at such an 'advanced stage' of the disease will fail to stop the degenerative process. Therefore, the identification of patients at risk and at earlier stages of the disease appears to be essential for any successful neuroprotection. The discovery of several genetic mutations associated with IPD raises the possibility that these, or other biomarkers, of the disease may help to identify persons at risk of IPD. Transcranial ultrasound have shown susceptibility factors for IPD related to an increased iron load of the substantia nigra. In the early clinical phase, a number of motor and particularly non-motor signs emerge, which can be identified by the patients and physicians years before the diagnosis is made, notably olfactory dysfunction, depression, or 'soft' motor signs such as changes in handwriting, speech or reduced ambulatory arm motion. These signs of the early, prediagnostic phase of IPD can be detected by inexpensive and easy-to-administer tests. As one single instrument will not be sensitive enough, a battery of tests has to be composed measuring independent parameters of the incipient disease. Subjects with abnormal findings in this test battery should than be submitted to nuclear medicine examinations to quantify the extent of dopaminergic injury and to reach the goal of a reliable, early diagnosis. PMID:12522572

  4. Risk factors for lung diseases after renal transplantation

    PubMed Central

    Pencheva, Ventsislava P.; Petrova, Daniela S.; Genov, Diyan K.; Georgiev, Ognian B.

    2015-01-01

    Background: Lung diseases are one of the major causes of morbidity and mortality after renal transplantation. The aim of the study is to define the risk factors for infectious and noninfectious pulmonary complications in kidney transplant patients. Materials and Methods: We prospectively studied 267 patients after renal transplantation. The kidney recipients were followed-up for the development of pulmonary complications for a period of 7 years. Different noninvasive and invasive diagnostic tests were used in cases suspected of lung disease. Results: The risk factors associated with the development of pulmonary complications were diabetes mellitus (odds ratio [OR] = 4.60; P = 0.001), arterial hypertension (OR = 1.95; P = 0.015), living related donor (OR = 2.69; P = 0.004), therapy for acute graft rejection (OR = 2.06; P = 0.038), immunosuppressive regimens that includes mycophenolate (OR = 2.40; P = 0.011), azathioprine (OR = 2.25; P = 0.023), and tacrolimus (OR = 1.83; P = 0.041). The only factor associated with the lower risk of complications was a positive serology test for Cytomegalovirus of the recipient before transplantation (OR = 0.1412; P = 0.001). Conclusion: The risk factors can be used to identify patients at increased risk for posttransplant lung diseases. Monitoring of higher-risk patients allow timely diagnosis and early adequate treatment and can reduce the morbidity and mortality after renal transplantation. PMID:26958045

  5. [Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

    PubMed

    Magistroni, Riccardo; Izzi, Claudia; Scolari, Francesco

    2016-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder related to kidney. ADPKD is usually easy to diagnose in people who have a family history of ADPKDs developing typical symptoms, including flank, abdominal pain or macroscopic hematuria. In this setting, diagnosis in adults at risk for ADPKD is commonly performed by ultrasonography, which reveals two enlarged kidneys with multiple bilateral cysts. ADPKD may be more difficult to diagnose in the absence of family history or in subjects with atypical presentation, including asymmetric or focal renal imaging findings, discordant disease within family, early onset of ADPKD and development of ESRD before 30 yr of age. The presence of a total of three or more renal cysts for at-risk subjects aged 15-39 years and two cysts or more in each kidney for at-risk subjects aged 40-59 years are sufficient for the diagnosis of ADPKD. The absence of any renal cyst is sufficient for disease exclusion only for at-risk subjects aged 40 years or older. If the family history is negative, the diagnosis of ADPKD can be made in a patient with enlarged kidneys, numerous cysts, presence of liver cysts and absence of findings suggesting a different cystic disease. If the imaging diagnosis is not clear or showing atypical manifestations in subjects, molecular genetic testing should be performed. PMID:27067212

  6. Chronic Kidney Disease As a Potential Indication for Renal Denervation

    PubMed Central

    Sanders, Margreet F.; Blankestijn, Peter J.

    2016-01-01

    Renal denervation is being used as a blood pressure lowering therapy for patients with apparent treatment resistant hypertension. However, this population does not represent a distinct disease condition in which benefit is predictable. In fact, the wide range in effectiveness of renal denervation could be a consequence of this heterogeneous pathogenesis of hypertension. Since renal denervation aims at disrupting sympathetic nerves surrounding the renal arteries, it seems obvious to focus on patients with increased afferent and/or efferent renal sympathetic nerve activity. In this review will be argued, from both a pathophysiological and a clinical point of view, that chronic kidney disease is particularly suited to renal denervation. PMID:27375498

  7. Renal Autoregulation in Health and Disease

    PubMed Central

    Carlström, Mattias; Wilcox, Christopher S.; Arendshorst, William J.

    2015-01-01

    . Reactive oxygen species and nitric oxide are modulators of myogenic and MD-TGF mechanisms. Attenuated renal autoregulation contributes to renal damage in many, but not all, models of renal, diabetic, and hypertensive diseases. This review provides a summary of our current knowledge regarding underlying mechanisms enabling renal autoregulation in health and disease and methods used for its study. PMID:25834230

  8. Diagnosis of alcoholic liver disease

    PubMed Central

    Torruellas, Cara; French, Samuel W; Medici, Valentina

    2014-01-01

    Alcohol is a hepatotoxin that is commonly consumed worldwide and is associated with a spectrum of liver injury including simple steatosis or fatty liver, alcoholic hepatitis, fibrosis, and cirrhosis. Alcoholic liver disease (ALD) is a general term used to refer to this spectrum of alcohol-related liver injuries. Excessive or harmful alcohol use is ranked as one of the top five risk factors for death and disability globally and results in 2.5 million deaths and 69.4 million annual disability adjusted life years. All patients who present with clinical features of hepatitis or chronic liver disease or who have elevated serum elevated transaminase levels should be screened for an alcohol use disorder. The diagnosis of ALD can generally be made based on history, clinical and laboratory findings. However, the diagnosis of ALD can be clinically challenging as there is no single diagnostic test that confirms the diagnosis and patients may not be forthcoming about their degree of alcohol consumption. In addition, clinical findings may be absent or minimal in early ALD characterized by hepatic steatosis. Typical laboratory findings in ALD include transaminase levels with aspartate aminotransferase greater than alanine aminotransferase as well as increased mean corpuscular volume, gamma-glutamyltranspeptidase, and IgA to IgG ratio. In unclear cases, the diagnosis can be supported by imaging and liver biopsy. The histological features of ALD can ultimately define the diagnosis according to the typical presence and distribution of hepatic steatosis, inflammation, and Mallory-Denk bodies. Because of the potential reversible nature of ALD with sobriety, regular screening of the general population and early diagnosis are essential. PMID:25206273

  9. The Risk of Peripheral Arterial Disease after Parathyroidectomy in Patients with End-Stage Renal Disease

    PubMed Central

    Chen, Hsuan-Ju; Li, Tsai-Chung; Hsu, Chih-Cheng; Kao, Chia-Hung

    2016-01-01

    Purpose The changes of the risk of peripheral arterial disease (PAD) in patients with end-stage renal disease after parathyroidectomy are scant. Methods We used a nationwide health insurance claims database to select all dialysis-dependent patients with end-stage renal disease aged 18 years and older for the study population in 2000 to 2006. Of the patients with end-stage renal disease, we selected 947 patients who had undergone parathyroidectomy as the parathyroidectomy group and frequency matched 3746 patients with end-stage renal disease by sex, age, years since the disease diagnosis, and the year of index date as the non-parathyroidectomy group. We used a multivariate Cox proportional hazards regression analysis with the use of a robust sandwich covariance matrix estimate, accounting for the intra-cluster dependence of hospitals or clinics, to measure the risk of peripheral arterial disease for the parathyroidectomy group compared with the non-parathyroidectomy group after adjusting for sex, age, premium-based income, urbanization, and comorbidity. Results The mean post-op follow-up periods were 5.08 and 4.52 years for the parathyroidectomy and non-parathyroidectomy groups, respectively; the incidence density rate of PAD in the PTX group was 12.26 per 1000 person-years, significantly lower than the data in the non-PTX group (24.09 per 1000 person-years, adjusted HR = 0.66, 95% CI = 0.46–0.94). Conclusion Parathyroidectomy is associated with reduced risk of peripheral arterial disease in patients with end-stage renal disease complicated with severe secondary hyperparathyroidism. PMID:27284924

  10. Celiac disease: diagnosis and treatment.

    PubMed

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina; Riis, Lene Buhl; Rumessen, Jüri Johannes; Skovbjerg, Hanne; Teisner, Ane; Wildt, Signe

    2015-04-01

    This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immune-mediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins, which are found in wheat, rye, and barley. The disease prevalence is 0.5-1.0%, but CD remains under-diagnosed. The diagnosis relies on the demonstration of lymphocyte infiltration, crypt hyperplasia, and villous atrophy in duodenal biopsies. Serology, malabsorption, biochemical markers, and identification of specific HLA haplotypes may contribute to CD diagnosis. Classical CD presents with diarrhoea and weight loss, but non-classical CD with vague or extraintestinal symptoms is common. The treatment for CD is a lifelong gluten-free diet (GFD), which, in the majority of patients, normalises the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include osteoporosis, iron and vitamin deficiencies, and enteropathy-associated T-cell lymphoma. PMID:25872537

  11. Genetic link between renal birth defects and congenital heart disease

    PubMed Central

    San Agustin, Jovenal T.; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A.; Liu, Xiaoqin; Lo, Cecilia W.; Pazour, Gregory J.

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  12. Genetic link between renal birth defects and congenital heart disease.

    PubMed

    San Agustin, Jovenal T; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A; Liu, Xiaoqin; Lo, Cecilia W; Pazour, Gregory J

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  13. The many faces of Merlin: IgG4-associated pulmonary-renal disease.

    PubMed

    Sprangers, Ben; Lioen, Pieter; Meijers, Björn; Lerut, Evelyne; Meersschaert, Joke; Blockmans, Daniel; Claes, Kathleen

    2011-09-01

    Pulmonary-renal syndrome is a common and serious disorder with a broad differential diagnosis. We describe a case of a middle-aged man presenting with interstitial pulmonary disease and severe renal impairment caused by a hypocomplementemic immune-complex-mediated interstitial nephritis. Serum levels of IgG4 were elevated, and renal biopsy specimens revealed the presence of interstitial IgG4(+) plasma cells. There was a rapid improvement of both pulmonary and renal abnormalities after the initiation of corticosteroids. To our knowledge, this report is the first to show interstitial pulmonary disease in association with interstitial kidney disease as the predominant and presenting symptoms of IgG4-related disease. PMID:21896524

  14. In vivo bone aluminum measurements in patients with renal disease

    SciTech Connect

    Ellis, K.J.; Kelleher, S.P.

    1986-01-01

    Contamination of the dialysis solution with trace amounts of aluminum and long-term use of aluminum-based phosphate binders have led to increased body burden of aluminum in patients with end-stage renal disease. A significant clinical problem associated with aluminum-overload is the early diagnosis of aluminum-induced dialysis dementia and osteomalacic osteodystrophy. There are few, if any, blood or urine indices that provide an early monitor of this bone disease, especially in the asymptomatic patient. Although a bone biopsy is usually the basis for the final clinical diagnosis, this procedure is not recommended for routine monitoring of patients. The present technique demonstrates the direct in vivo measurement of bone aluminum levels in patients with renal failure. The interference normally present from activation of bone phosphorus is eliminated by using a thermal/epithermal neutron beam. For the clinical management of the patients, the Al/Ca ratio for the hand may be more useful than an absolute measurement of the total body or skeletal aluminum burden. The relationship between the increased serum Al levels following disferrioxamine infusion and the direct in vivo measurement of bone aluminum using the Al/Ca ratio are currently under investigation. The neutron activation procedure presented in this pilot study is a promising new technique with an immediate clinical application. 5 refs., 3 figs., 1 tab.

  15. Diagnosis and pathology of endocrine diseases

    SciTech Connect

    Shriver, B.D.

    1988-01-01

    This book contains 22 papers under the headings of Diagnosis and Pathology of endocrine diseases. Topics covered include: Laboratory tests in the diagnosis and management of thyroid disorders, Pathology of thyroid diseases, Diagnosis of adrenourtical disease, Radiologic techniques in evaluating endocrine disorders; and the Pituitary and adrenal glands.

  16. Molecular differential diagnosis of renal carcinoma: from microscopes to microsatellites.

    PubMed Central

    Steiner, G.; Sidransky, D.

    1996-01-01

    In the last decade, specific chromosomal alterations have been associated with different tumor types. These aberrations were originally detected by karyotyping and then by more sophisticated cytogenetic analysis. A few karyotypic alterations can be directly linked to distinct malignancies, such as the Philadelphia chromosome in acute lymphoblastic leukemia, loss of distal chromosome 3p 14 in small-cell lung cancer, the loss of distal chromosome 11p13 in Wilms' tumor, and loss or rearrangement of the short arm of chromosome 3 in clear and chromophobe RCC. The relative specificity of the latter findings enabled investigators to diagnose an occult renal clear-cell carcinoma from a supraclavicular lymph node metastasis by analysis of G-banded metaphase chromosomes obtained from this mass. A similar report based also on cytogenetic findings was published earlier. Karyotypic changes, however, detect only gross alterations visible to an observer. With more refined diagnostic tools, such as microsatellite analysis, other, even smaller, well defined lesions can be analyzed. A summary of the known frequencies of chromosomal losses is given in Table 1. The combination of certain LOH patterns has shown great promise in the differential diagnosis of renal tumors. The transfer of molecular genetics from the laboratory to surgical pathology and other clinical departments is a meaningful event and a challenging task. Molecular pathology is certain to become important in the diagnosis of tumors with unclear histology. Diagnosis based widely upon staining techniques and determination of a patient's prognosis by staging and grading alone will be increasingly accompanied by molecular genetic methods. Pathology may be on the verge of the greatest change since the introduction of the microscope. PMID:8952515

  17. End stage renal disease and its dental management.

    PubMed

    Sharma, Dileep C G; Pradeep, A R

    2007-01-01

    In recent years, the incidence of renal disease has become more common in middle-aged to geriatric patients. This has led to greater exposure of dental surgeons to patients with renal disease and on hemodialysis. This article highlights the clinical features of patients with end-stage renal disease, the oral manifestations and the precautions to be taken while managing them in a dental setting. PMID:17378316

  18. Analysis of the Sensitivity and Specificity of Noninvasive Imaging Tests for the Diagnosis of Renal Artery Stenosis

    PubMed Central

    Borelli, Flavio Antonio de Oliveira; Pinto, Ibraim M. F.; Amodeo, Celso; Smanio, Paola E. P.; Kambara, Antonio M.; Petisco, Ana Claudia G.; Moreira, Samuel M.; Paiva, Ricardo Calil; Lopes, Hugo Belotti; Sousa, Amanda G. M. R.

    2013-01-01

    Background Aging and atherosclerosis are related to renovascular hypertension in elderly individuals. Regardless of comorbidities, renal artery stenosis is itself an important cause of cardiovascular morbidity and mortality. Objective To define the sensitivity, specificity, positive predictive value, and negative predictive value of noninvasive imaging tests used in the diagnosis of renal artery stenosis. Methods In a group of 61 patients recruited, 122 arteries were analized, thus permitting the definition of sensitivity, specificity, and the relative contribution of each imaging study performed (Doppler, scintigraphy and computed tomographic angiography in comparison to renal arteriography). Results The mean age was 65.43 years (standard deviation: 8.7). Of the variables related to the study population that were compared to arteriography, two correlated with renal artery stenosis, renal dysfunction and triglycerides. The median glomerular filtration rate was 52.8 mL/min/m2. Doppler showed sensitivity of 82.90%, specificity of 70%, a positive predictive value of 85% and negative predictive value of 66.70%. For tomography, sensitivity was 66.70%, specificity 80%, positive predictive value 87.50% and negative predictive value 55.20%. With these findings, we could identify the imaging tests that best detected stenosis. Conclusion Tomography and Doppler showed good quality and efficacy in the diagnosis of renal artery stenosis, with Doppler having the advantage of not requiring the use of contrast medium for the assessment of a disease that is common in diabetics and is associated with renal dysfunction and severe left ventricular dysfunction. PMID:24061685

  19. Proteomics and mass spectrometry in the diagnosis of renal amyloidosis

    PubMed Central

    Picken, Maria M.

    2015-01-01

    The amyloidoses are a ‘group’ of disorders, all of which are associated with deposits that display similar staining and ultrastructural features and are toxic to tissues. Many proteins—currently 31 protein types and many more variants—have been shown to undergo such transformations. Among the various currently known amyloidoses, there are marked differences with regard to their pathogenesis and incidence, while the associated clinical picture is frequently overlapping. However, the therapies that are currently available are amyloid-type specific. The diagnosis of amyloidosis thus involves two steps: (i) a generic diagnosis, followed by (ii) an amyloid type-specific diagnosis or ‘amyloid typing’. Immunofluorescence in frozen sections or immunohistochemistry (IHC) in paraffin sections has traditionally been used in the typing of amyloid. However, IHC of amyloid differs significantly from IHC in other areas of surgical pathology; both caution and experience are necessary for its interpretation. The rationale for the application of proteomic methods to amyloid typing lies in the relative abundance of amyloid proteins in tissue where, frequently, it is the ‘dominant’ protein. Proteomic techniques include the following steps: sample preparation, protein extraction and digestion into peptide fragments, followed by their subsequent separation and measurement by mass spectrometry (MS) and protein identification by informatics. The advantages as well as the limitations of both methods—immunohistochemistry and MS-based proteomics—are discussed. The current recommendations for the application of proteomics in renal amyloidosis are summarized. PMID:26613021

  20. Proteomics and mass spectrometry in the diagnosis of renal amyloidosis.

    PubMed

    Picken, Maria M

    2015-12-01

    The amyloidoses are a 'group' of disorders, all of which are associated with deposits that display similar staining and ultrastructural features and are toxic to tissues. Many proteins-currently 31 protein types and many more variants-have been shown to undergo such transformations. Among the various currently known amyloidoses, there are marked differences with regard to their pathogenesis and incidence, while the associated clinical picture is frequently overlapping. However, the therapies that are currently available are amyloid-type specific. The diagnosis of amyloidosis thus involves two steps: (i) a generic diagnosis, followed by (ii) an amyloid type-specific diagnosis or 'amyloid typing'. Immunofluorescence in frozen sections or immunohistochemistry (IHC) in paraffin sections has traditionally been used in the typing of amyloid. However, IHC of amyloid differs significantly from IHC in other areas of surgical pathology; both caution and experience are necessary for its interpretation. The rationale for the application of proteomic methods to amyloid typing lies in the relative abundance of amyloid proteins in tissue where, frequently, it is the 'dominant' protein. Proteomic techniques include the following steps: sample preparation, protein extraction and digestion into peptide fragments, followed by their subsequent separation and measurement by mass spectrometry (MS) and protein identification by informatics. The advantages as well as the limitations of both methods-immunohistochemistry and MS-based proteomics-are discussed. The current recommendations for the application of proteomics in renal amyloidosis are summarized. PMID:26613021

  1. Chemerin in renal dysfunction and cardiovascular disease.

    PubMed

    Bonomini, Mario; Pandolfi, Assunta

    2016-02-01

    The potential involvement of chemerin in cardiovascular and renal dysfunction has recently been acknowledged. There are indeed many links between this protein and inflammation, atherosclerosis, and multiple obesity- and diabetes-related parameters such as body mass index, insulin resistance, and blood levels of insulin, cholesterol, triglycerides, and glucose. In addition, in the last few years, several reports have investigated the circulating chemerin levels and their pathophysiologic significance in chronic kidney disease populations. However, there are still gaps in our understanding of this matter, in particular as to whether elevated chemerin might be the cause behind, or simply mirror, a reduced renal function. The limitations of the present knowledge on chemerin may partly relate to the lack of specific antibodies for assessing the different active isoforms of the protein. Measuring its bioactive serum concentration, and achieving a precise overall pattern of the tissue-specific formation of different isoforms, with the use of suitable technology, will ultimately help define the role of chemerin in disease pathophysiology, or as a diagnostic or therapeutic marker. PMID:26545628

  2. Clinical Scenarios in Chronic Kidney Disease: Cystic Renal Diseases.

    PubMed

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

    Cysts are frequently found in chronic kidney disease (CKD) and they have a different prognostic significance depending on the clinical context. Simple solitary parenchymal cysts and peripelvic cysts are very common and they have no clinical significance. At US, simple cyst appears as a round anechoic pouch with regular and thin profiles. On the other hand, hereditary polycystic disease is a frequent cause of CKD in children and adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the best known cystic hereditary diseases. ADPKD and ARPKD show a diffused cystic degeneration with cysts of different diameters derived from tubular epithelium. Medullary cystic disease may be associated with tubular defects, acidosis and lithiasis and can lead to CKD. Acquired cystic kidney disease, finally, is secondary to progressive structural end-stage kidney remodelling and may be associated with renal cell carcinoma. PMID:27169740

  3. Cardiovascular disease in renal transplant recipients.

    PubMed

    McQuarrie, Emily P; Fellström, Bengt C; Holdaas, Hallvard; Jardine, Alan G

    2010-05-01

    Renal transplant recipients have a markedly increased risk of premature cardiovascular disease (CVD) compared with the general population, although considerably lower than that of patients receiving maintenance haemodialysis. CVD in transplant recipients is poorly characterised and differs from the nonrenal population, with a much higher proportion of fatal to nonfatal cardiac events. In addition to traditional ischaemic heart disease risk factors such as age, gender, diabetes and smoking, there are additional factors to consider in this population such as the importance of hypertension, left ventricular hypertrophy and uraemic cardiomyopathy. There are factors specific to transplantation such immunosuppressive therapies and graft dysfunction which contribute to this altered risk profile. However, understanding and treatment is limited by the absence of large randomised intervention trials addressing risk factor modification, with the exception of the ALERT study. The approach to managing these patients should begin early and be multifactorial in nature. PMID:20586909

  4. Heart Health - Heart Disease: Symptoms, Diagnosis, Treatment

    MedlinePlus

    ... Issues Cover Story Heart Health Heart Disease: Symptoms, Diagnosis, Treatment Past Issues / Winter 2009 Table of Contents ... or both arms, the neck, jaw, or stomach. Diagnosis Key heart tests include: Electrocardiogram (ECG or EKG) — ...

  5. Diagnosis and management of childhood polycystic kidney disease.

    PubMed

    Sweeney, William E; Avner, Ellis D

    2011-05-01

    A number of syndromic disorders have renal cysts as a component of their phenotypes. These disorders can generally be distinguished from autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) by imaging studies of their characteristic, predominantly non-renal associated abnormalities. Therefore, a major distinction in the differential diagnosis of enlarge echogenic kidneys is delineating ARPKD from ADPKD. ADPKD and ARPKD can be diagnosed by imaging the kidney with ultrasound, computed tomography, or magnetic resonance imaging (MRI), although ultrasound is still the method of choice for diagnosis in utero and in young children due to ease of use, cost, and safety. Differences in ultrasound characteristics, the presence or absence of associated extrarenal abnormalities, and the screening of the parents >40 years of age usually allow the clinician to make an accurate diagnosis. Early diagnosis of ADPKD and ARPKD affords the opportunity for maximal anticipatory care (i.e. blood pressure control) and in the not-too-distant future, the opportunity to benefit from new therapies currently being developed. If results are equivocal, genetic testing is available for both ARPKD and ADPKD. Specialized centers are now offering preimplantation genetic diagnosis and in vitro fertilization for parents who have previously had a child with ARPKD. For ADPKD patients, a number of therapeutic interventions are currently in clinical trial and may soon be available. PMID:21046169

  6. 28 CFR 79.57 - Proof of chronic renal disease.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Proof of chronic renal disease. 79.57 Section 79.57 Judicial Administration DEPARTMENT OF JUSTICE (CONTINUED) CLAIMS UNDER THE RADIATION EXPOSURE COMPENSATION ACT Eligibility Criteria for Claims by Uranium Millers § 79.57 Proof of chronic renal disease. (a) In determining whether a...

  7. Gout secondary to chronic renal disease: studies on urate metabolism.

    PubMed

    Sorensen, L F

    1980-10-01

    A report of 20 cases of gout considered to be secondary to chronic renal disease is presented. Studies of renal function and of uric acid metabolism were carried out in 16 patients. The daily production of urate remained within normal limits in the face of progressive renal dysfunction. Renal excretion of uric acid was decreased to a mean of 35.5% of the turnover. The cumulative urinary recovery of intravenously injected 14C-uric acid averaged 32.0%. In 3 patients 14C was successively retrieved in urinary allantoinand urea, in carbon dioxide of expired air, and in faeces. As in normal man, carbon dioxide and ammonia were the principal uricolytic products. The extrarenal excretion of uric acid assumes a greater role in chronic renal disease and eventually becomes the major route of elimination of uric acid. The possibility that gout may be secondary to intrinsic renal disease should be entertained when azotaemia is present. PMID:7436573

  8. Hyperphosphatemia in end-stage renal disease.

    PubMed

    Indridason, Olafur S; Quarles, L Darryl

    2002-07-01

    Hyperphosphatemia occurs universally in end-stage renal disease (ESRD) unless efforts are made to prevent positive phosphate balance. Positive phosphate balance results from the loss of renal elimination of phosphate and continued obligatory intestinal absorption of dietary phosphate. Increased efflux of phosphate from bone because of excess parathyroid hormone-mediated bone resorption can also contribute to increased serum phosphate concentrations in the setting of severe hyperparathyroidism. It is important to treat hyperphosphatemia because it contributes to the pathogenesis of hyperparathyroidism, vascular calcifications, and increased cardiovascular mortality in ESRD patients. Attaining a neutral phosphate balance, which is the key to the management of hyperphosphatemia in ESRD, is a challenge. Control of phosphorus depends on its removal during dialysis and the limitation of gastrointestinal absorption by dietary phosphate restriction and chelation of phosphate. Knowledge of the quantitative aspects of phosphate balance is useful in optimizing our use of phosphate binders, dialysis frequency, and vitamin D sterols. The development of new phosphate binders and efforts to find new ways to inhibit gastrointestinal absorption of phosphate will lead to improvements in the control of serum phosphate levels in ESRD. PMID:12203200

  9. Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease

    PubMed Central

    Costa, Rui M.; Martul, Eduardo V.; Reboredo, Juan M.; Cigarrán, Secundino

    2013-01-01

    Inherited and acquired metabolic disorders are responsible for renal intracellular accumulation of phospholipids. Ultrastructural analysis revealing typical myeloid or zebra bodies was previously thought to be exclusive to Fabry disease. However, chloroquine/hydroxychloroquine toxicity can cause similar abnormalities. Recent studies have mentioned curvilinear bodies (CLB) in renal cells in such cases, never described in Fabry nephropathy. We report a 31-year-old patient with systemic lupus erythematosus who was on long-term hydroxychloroquine treatment. The presence of zebra bodies on electron microscopy lead to initial interpretation of Fabry disease, but subsequent genetic analysis did not show a relevant mutation. Further evaluation revealed CLB in renal cells, supporting the diagnosis of hydroxycholoroquine-induced renal phospholipidosis. PMID:26120446

  10. The emerging role of hepatocyte growth factor in renal diseases.

    PubMed

    Mao, Song; Zhang, Jianhua

    2016-06-01

    Hepatocyte growth factor (HGF), a kringle-containing polypeptide, acts on various epithelial cells to regulate cell growth, cell motility, and morphogenesis. HGF also accelerates tissue regeneration of injured organs and is regarded as a key molecule in organ regeneration. Besides the regeneration of the liver, HGF also plays a role in the renal regeneration. In addition, an adaptive alteration of HGF status in various renal diseases occurs. However, the precise role of HGF in various renal diseases remains elusive. The signaling pathways of HGF may be associated with renal diseases. In this review, we will try to provide an in-depth understanding of the underlying role of HGF and its possible interactions with other molecules in renal diseases. PMID:26460681

  11. Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.

    PubMed

    Verhave, Jacobien C; Bech, Anneke P; Wetzels, Jack F M; Nijenhuis, Tom

    2016-02-01

    Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a recently recognized clinical entity with a variable multisystem phenotype. Early reports described an association between HNF1B mutations and maturity-onset diabetes of the young. These patients often presented with renal cysts and renal function decline that preceded the diabetes, hence it was initially referred to as renal cysts and diabetes syndrome. However, it is now evident that many more symptoms occur, and diabetes and renal cysts are not always present. The multisystem phenotype is probably attributable to functional promiscuity of the HNF1β transcription factor, involved in the development of the kidney, urogenital tract, pancreas, liver, brain, and parathyroid gland. Nephrologists might diagnose HNF1β-associated kidney disease in patients referred with a suspected diagnosis of autosomal dominant polycystic kidney disease, medullary cystic kidney disease, diabetic nephropathy, or CKD of unknown cause. Associated renal or extrarenal symptoms should alert the nephrologist to HNF1β-associated kidney disease. A considerable proportion of these patients display hypomagnesemia, which sometimes mimics Gitelman syndrome. Other signs include early onset diabetes, gout and hyperparathyroidism, elevated liver enzymes, and congenital anomalies of the urogenital tract. Because many cases of this disease are probably undiagnosed, this review emphasizes the clinical manifestations of HNF1β-associated disease for the nephrologist. PMID:26319241

  12. Current MRI Techniques for the Assessment of Renal Disease

    PubMed Central

    Takahashi, Takamune; Wang, Feng; Quarles, Christopher C.

    2015-01-01

    Purpose of review Over the past decade a variety of magnetic resonance imaging (MRI) methods have been developed and applied to many kidney diseases. These MRI techniques show great promise, enabling the noninvasive assessment of renal structure, function, and injury in individual subjects. This review will highlight current applications of functional MRI techniques for the assessment of renal disease and discuss future directions. Recent findings Many pathological (functional and structural) changes or factors in renal disease can be assessed by advanced MRI techniques. These include renal vascular structure and function (contrast-enhanced MRI, arterial spin labeling), tissue oxygenation (blood oxygen level-dependent MRI), renal tissue injury and fibrosis (diffusion or magnetization transfer imaging, MR elastography), renal metabolism (chemical exchange saturation transfer, spectroscopic imaging), nephron endowment (cationic-contrast imaging), sodium concentration (23Na-MRI), and molecular events (targeted-contrast imaging). Summary Current advances in MRI techniques have enabled the non-invasive investigation of renal disease. Further development, evaluation, and application of the MRI techniques should facilitate better understanding and assessment of renal disease and the development of new imaging biomarkers, enabling the intensified treatment to high-risk populations and a more rapid interrogation of novel therapeutic agents and protocols. PMID:26066472

  13. Chemokines as Potential Markers in Pediatric Renal Diseases

    PubMed Central

    Simões e Silva, Ana Cristina; Pereira, André Barreto; Teixeira, Mauro Martins; Teixeira, Antônio Lúcio

    2014-01-01

    Glomerular diseases and obstructive uropathies are the two most frequent causes of chronic kidney disease (CKD) in children. Recently, biomarkers have become a focus of clinical research as potentially useful diagnostic tools in pediatric renal diseases. Among several putative biomarkers, chemokines emerge as promising molecules since they play relevant roles in the pathophysiology of pediatric renal diseases. The evaluation of these inflammatory mediators might help in the management of diverse renal diseases in children and the detection of patients at high risk to develop CKD. The aim of this paper is to revise general aspects of chemokines and the potential link between chemokines and the most common pediatric renal diseases by including experimental and clinical evidence. PMID:24692841

  14. The Genetics of Ultra-Rare Renal Disease.

    PubMed

    Muff-Luett, Melissa; Nester, Carla M

    2016-03-01

    The complement-mediated renal diseases are a group of ultra-rare renal diseases that disproportionately affect children and young adults and frequently lead to irreversible renal failure. Genetic mutations in alternate pathway of complement genes are pathomechanistically involved in a significant number of these unique diseases. Here, we review our current understanding of the role of genetics in the primary complement-mediated renal diseases affecting children, with a focus on atypical hemolytic uremic syndrome and C3 glomerulopathy. Also, included is a brief discussion of the related diseases whose relationship to complement abnormality has been suspected but not yet confirmed. Advances in genetics have transformed both treatment and outcomes in these historically difficult to treat, highly morbid diseases. PMID:27617140

  15. Acute kidney injury: Renal disease in the ICU.

    PubMed

    Seller-Pérez, G; Más-Font, S; Pérez-Calvo, C; Villa-Díaz, P; Celaya-López, M; Herrera-Gutiérrez, M E

    2016-01-01

    Acute kidney injury (AKI) in the ICU frequently requires costly supportive therapies, has high morbidity, and its long-term prognosis is not as good as it has been presumed so far. Consequently, AKI generates a significant burden for the healthcare system. The problem is that AKI lacks an effective treatment and the best approach relies on early secondary prevention. Therefore, to facilitate early diagnosis, a broader definition of AKI should be established, and a marker with more sensitivity and early-detection capacity than serum creatinine - the most common marker of AKI - should be identified. Fortunately, new classification systems (RIFLE, AKIN or KDIGO) have been developed to solve these problems, and the discovery of new biomarkers for kidney injury will hopefully change the way we approach renal patients. As a first step, the concept of renal failure has changed from being a "static" disease to being a "dynamic process" that requires continuous evaluation of kidney function adapted to the reality of the ICU patient. PMID:27388683

  16. In-111-labeled leukocytes in the diagnosis of rejection and cytomegalovirus infection in renal transplant patients

    SciTech Connect

    Forstrom, L.A.; Loken, M.K.; Cook, A.; Chandler, R.; McCullough, J.

    1981-04-01

    Indium-111-labelled (In-111) leukocytes have been shown to be useful in the localization of inflammatory processes, including renal transplant rejection. Using previously reported labelling methods, 63 studies with this agent have been performed in 53 renal transplant patients. Indications for study included suspected rejection or cytomegalovirus (CMV) infection. Studies were performed in 33 men and 20 women, with ages ranging from 6 to 68 years. Autologous cells were normally used for labeling, although leukocytes obtained from ABO-compatible donors were used in three subjects. Rectilinear scanner and/or scintillation camera images were obtained at 24 hours after intravenous administration of 0.1 to 0.6 mCi of In-111 leukocytes. There was abnormal uptake of In-111-leukocytes in the transplanted kidney in 11 of 15 cases of rejection. In three additional cases of increased transplant uptake, CMV infection was present in two. Abnormal lung uptake was present in 13 of 14 patients with CMV infection. In four additional cases, increased lung uptake was associated with other pulmonary inflammatory disease. Increased lung activity was not seen in patients with uncomplicated transplant rejection. These results suggest that In-111-leukocyte imaging may be useful in the differential diagnosis of rejection versus CMV infection in renal transplant patients.

  17. In-111-labeled leukocytes in the diagnosis of rejection and cytomegalovirus infection in renal transplant patients

    SciTech Connect

    Forstrom, L.A.; Loken, M.K.; Cook, A.; Chandler, R.; McCullough, J.

    1981-04-01

    Indium-111-labeled (In-111) leukocytes have been shown to be useful in the localization of inflammatory processes, including renal transplant rejection. Using previously reported labeling methods, 63 studies with this agent have been performed in 53 renal transplant patients. Indications for study included suspected rejection or cytomegalovirus (CMV) infection. Studies were performed in 33 men and 20 women, with ages ranging from 6 to 68 years. Autologous cells were normally used for labeling, although leukocytes obtained from ABO-compatible donors were used in three subjects. Rectilinear scanner and/or scintillation camera images were obtained at 24 hours after intravenous administration of 0.1 to 0.6 mCi of In-111-leukocytes. There was abnormal uptake of In-111-leukocytes in the transplanted kidney in 11 of 15 cases of rejection. In three additional cases of increased transplant uptake, CMV infection was present in two. Abnormal lung uptake was present in 13 of 14 patients with CMV infection. In four additional cases, increased lung uptake was associated with other pulmonary inflammatory disease. Increased lung activity was not seen in patients with uncomplicated transplant rejection. These results suggest that In-111-leukocyte imaging may be useful in the differential diagnosis of rejection versus CMV infection in renal transplant patients.

  18. Prenatal diagnosis of inherited metabolic diseases.

    PubMed Central

    Diukman, R; Goldberg, J D

    1993-01-01

    Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus. Images PMID:8236980

  19. Diagnosis of urinary leak following abdominal total hysterectomy using renal scintigraphy.

    PubMed

    Lantsberg, S; Rachinsky, I; Boguslavsky, L; Piura, B

    2000-07-01

    Surgical trauma to the urinary system is a relatively rare complication following gynecological surgery. A case of urinary leak from rupture of the bladder following abdominal hysterectomy was diagnosed by Tc-99m-DTPA renal scintigraphy and confirmed by direct radio-isotopic cystography. Renal scintigraphic techniques should be very helpful in early diagnosis of surgical damage to the urinary tract. PMID:10817871

  20. Ureteritis Cystica: Important Consideration in the Differential Diagnosis of Acute Renal Colic

    PubMed Central

    Padilla-Fernández, B.; Díaz-Alférez, FJ.; Herrero-Polo, M.; Martín-Izquierdo, M.; Silva-Abuín, JM.; Lorenzo-Gómez, MF.

    2012-01-01

    Ureteritis cystica is an uncommon cause of acute renal pain. The aetiology remains unclear and the diagnosis may be difficult to establish. We report the case of a 29 year old woman with a history of repeated urinary tract infections presenting with acute renal colic in the absence of lithiasis. We review the diagnostic tools available to make the diagnosis and the recent pertinent literature. PMID:22474406

  1. Molecular diagnosis of autosomal dominant polycystic kidney disease.

    PubMed

    Torra Balcells, R; Ars Criach, E

    2011-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder. Its estimated prevalence is 1 per 800 individuals. ADPKD patients constitute 8% of the population on dialysis or kidney transplantation. The disease can be diagnosed using radiological or genetic procedures. Direct genetic diagnosis of the disease can now be performed in Spain; however, it is not an easy or cheap test. This is why every case should be considered individually to determine whether genetic testing is appropriate, and to determine which genetic test is most adequate. Genetic testing in ADPKD is of special interest for living donors and neonatal and sporadic cases. Genetic testing offers the chance of performing prenatal or pre-implantation testing of embryos in families with severe cases of the disease. Also, this will enable the disease to be treated, when specific treatment becomes available, in cases that would not be candidates for treatment without genetic confirmation. PMID:21270911

  2. Diagnosis of von Willebrand disease.

    PubMed

    Ingerslev, J; Gürsel, T

    1999-05-01

    The haemorrhagic diathesis in von Willebrand disease (vWD) is caused by a quantitative deficiency or a qualitative defect in the von Willebrand factor (vWF) in plasma and/or platelets causing insufficient primary haemostasis. Since vWF binds and protects factor VIII (FVIII) towards random proteolysis, coagulation may also be impaired in patients with a low plasma level of vWF, and in instances where vWF displays insufficient binding capacity to FVIII. The entity of vWD displays a vast heterogeneity. Apart from rarely occurring acquired cases, vWD is an inherited disorder of autosomal linkage. The major clinical hallmark in vWD is an increased tendency to mucocutaneous bleeding that rarely reach life-threatening proportions, unless vWF is severely reduced or completely absent. Increased bleeding may also occur in sites such as muscles and joints when the level of FVIII is particularly low. Significant progress has recently been achieved through extensive molecular genetic exploration of various forms of vWD. In order to guide treatment and to form a platform for genetic investigation, however, accuracy in diagnosis and phenotypic characterization is important. By means of various laboratory methods, major subclasses of vWD can be differentiated, as presented in another article of this series. Whereas most of the cases of vWD can quite easily be diagnosed and classified using today's diagnostic methods, the most frequently occurring bleeding disorder of all, vWd type 1 of mild degree, continues to challenge clinicians and diagnostic laboratories. The aim of this paper is to review the laboratory methods most commonly used in diagnostic investigation of the patient suspected of vWD. PMID:23401900

  3. Importance of Neutrophil Gelatinase-Associated Lipocalin in Differential Diagnosis of Acute and Chronic Renal Failure

    PubMed Central

    Ozkan, Seda; Durukan, Polat; Kavalci, Cemil; Duman, Ali; Sayhan, Mustafa Burak; Salt, Omer; Ipekci, Afsin

    2014-01-01

    Background: Neutrophil Gelatinase-associated Lipocalin (NGAL) protein is easily detected in the blood and urine soon after acute renal injury. NGAL gains features of an early, sensitive and noninvasive biomarker for acute renal injury. Recent evidences suggest that its expression is also increased in CRF reflecting the severity of disease. Objectives: In the present study, we aimed to investigate whether blood NGAL level plays a role in the differential diagnosis of acute and chronic renal failure. Patients and Methods: This was a prospective case-control study. Fifty patients presented to emergency department with acute renal failure (ARF), 30 with chronic renal failure (CRF) and 20 healthy individuals as control group were included in this study. Blood pH, HCO3-, BUN, creatinine and potassium values were evaluated in all patients. Blood NGAL values were evaluated in all groups. BUN, serum creatinine and NGAL values were statistically compared between patients and controls. Results: Median NGAL levels in patients was 304.50 (29), and 60 (0) in control, which was statistically significant between the two groups (Z = -6.477, P < 0.001). The median NGAL values were 261.50 ± 291 in ARF group and 428.50 ± 294 in CRF group. There was a significant difference in NGAL level between ARF and CRF groups (Z = -2.52, P = 0.012). Median BUN values were 153.46 ± 82.47 in ARF group and 169.40 ± 93.94 in CRF group. There was no significant difference in BUN value between ARF and CRF groups (P > 0.05). Median creatinine values were 2.84 ± 2.95 in ARF group and 4.78 ± 4.32 in CRF group. In serum creatinine values, a significant difference was found between ARF and CRF groups (P < 0.05). Conclusions: Serum NGAL levels of ARF and CRF patients were significantly higher than healthy individuals. In addition, NGAL values of patients with CRF were significantly higher than those of ARF. Serum NGAL values can be used to detect renal injury and differentiate ARF and CRF. PMID:25389480

  4. End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.

    PubMed

    Battelino, Nina; Writzl, Karin; Bratanič, Nevenka; Irving, Melita D; Novljan, Gregor

    2016-06-01

    Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. We present an 8-year-old Caucasian boy, born with multiple dysmorphic features consistent with HJCYS. Imaging of the urinary tract revealed bilateral cystic dysplastic kidneys with associated vesicoureteral reflux. Renal function has been impaired since birth and deteriorated progressively to end-stage renal disease (ESRD) by the age of two and a half years, when peritoneal dialysis was initiated and only recently renal transplantation was performed. Additional congenital abnormalities and multisystem involvement in HJCYS further complicated management, and he developed refractory anemia. Molecular diagnosis was confirmed by identification of a truncating mutation in exon 34 of NOTCH2. Although, renal abnormalities are considered an integral part of the HJCYS, published reports on ESRD are scarce. In those few published cases, where ESRD was recognized, renal failure developed either in late adolescence or adulthood. This is the first report of early ESRD occurring in a child. Patients with HJCYS may need chronic renal replacement therapy even in early childhood. The management of these children can be challenging given the multisystemic manifestations of HJCYS. PMID:27312922

  5. Meningococcal Disease: Diagnosis and Treatment

    MedlinePlus

    ... Vaccine Campaign Podcast: Meningitis Immunization for Adolescents Meningitis Sepsis Diagnosis & Treatment Recommend on Facebook Tweet Share Compartir ... Vaccine Campaign Podcast: Meningitis Immunization for Adolescents Meningitis Sepsis File Formats Help: How do I view different ...

  6. The diagnosis and management of renovascular disease: a primary care perspective. Part I. Making the diagnosis.

    PubMed

    Bloch, Michael J; Basile, Jan

    2003-01-01

    Renovascular disease is a complex disorder, the most common causes of which are fibromuscular dysplasia and atherosclerotic disease. It usually presents in one of three forms: asymptomatic renal artery stenosis, renovascular hypertension, or ischemic nephropathy. This complexity often makes diagnostic and management decisions difficult. This review will be presented in two parts. In Part I, the authors will discuss when to consider and how to go about making the diagnosis. In Part II (in a future issue of The JCH), the authors discuss the management of renovascular disease. The clinical index of suspicion remains paramount in setting the diagnostic strategy. Although it is subject to certain limitations, conventional contrast angiography is usually considered the gold standard in confirming the diagnosis. In addition, there are a number of available noninvasive tests that can aid in decision making. These tests can be divided into those that detect the anatomic presence of a stenosis and those that identify the functional consequences of the renal artery obstruction. No one study is appropriate for every patient. A diagnostic algorithm is proposed at the conclusion of this review. PMID:12826784

  7. Renal erythropoietin-producing cells in health and disease

    PubMed Central

    Souma, Tomokazu; Suzuki, Norio; Yamamoto, Masayuki

    2015-01-01

    Erythropoietin (Epo) is an indispensable erythropoietic hormone primarily produced from renal Epo-producing cells (REPs). Epo production in REPs is tightly regulated in a hypoxia-inducible manner to maintain tissue oxygen homeostasis. Insufficient Epo production by REPs causes renal anemia and anemia associated with chronic disorders. Recent studies have broadened our understanding of REPs from prototypic hypoxia-responsive cells to dynamic fibrogenic cells. In chronic kidney disease, REPs are the major source of scar-forming myofibroblasts and actively produce fibrogenic molecules, including inflammatory cytokines. Notably, myofibroblast-transformed REPs (MF-REPs) recover their original physiological properties after resolution of the disease insults, suggesting that renal anemia and fibrosis could be reversible to some extent. Therefore, understanding the plasticity of REPs will lead to the development of novel targeted therapeutics for both renal fibrosis and anemia. This review summarizes the regulatory mechanisms how hypoxia-inducible Epo gene expression is attained in health and disease conditions. PMID:26089800

  8. Spectrum of Renal and Urinary Tract Diseases in Kashmiri Children

    PubMed Central

    Kumar, Virender; Bano, Rifat Ara; Wani, Khursheed Ahmed; Ahmed, Javed; Ahmed, Kaisar

    2016-01-01

    Introduction Definite paucity of data pertaining to spectrum of renal and urinary tract diseases in our state and in various parts of India forms the basis of this study. Available data has emphasized more on specific clinical syndromes and chronic renal diseases rather than over all spectrums of renal and urinary tract diseases, that too in adult population. Aim The present study a retrospective analysis, forms one of the basic data of paediatric nephrology and urology related disorders in our state. Materials and Methods Retrospective analysis of the case records of all the hospitalized patients with renal and urinary tract diseases between 2012 and 2013 were performed. Case records were analysed and categorized into various groups like; Urinary Tract Infections (UTI), Acute Kidney Injury (AKI), Acute Glomerulonephritis (AGN), Nephrotic Syndrome (NS), haematuria, Polycystic Kidney Disease (PCKD), Posterior Urethral Valve (PUV), Vesicoureteric Reflux (VUR), Chronic Kidney Disease (CKD), Congenital Anomalies of Kidney and Urinary Iract (CAKUT) and others. These groups were divided into subgroups to get more insight about the pattern of these diseases. Results Out of 28114 patients hospitalized between 2012 and 2013 years, 447 (232 males and 215 females) patients were diagnosed of renal and urinary tract diseases which forms 1.58% the total admitted patients. Among these patients 32.9% (147/447) were diagnosed Acute Kidney Injury (AKI); 24.1% (108/447): Urinary Tract Infection (UTI); 9.6% (43/447): Acute Glomerulonephritis (AGN); 5.6% (25/447): bilateral hydronephrosis with UTI; 4.47% (20/447): nephrotic syndrome (NS); 3.5% (16/447): haematuria; and 4% (18/447) were having CAKUT (Congenital Anomalies Of Kidney And Urinary Tract). In addition to this there were 17 cases of Renal Tubular Acidosis (RTA), 3 cases of Barter syndrome and one case of Liddle syndrome. Conclusion A substantial number of children are hospitalized with renal and urinary tract diseases with

  9. Managing acute and chronic renal stone disease.

    PubMed

    Moran, Conor P; Courtney, Aisling E

    2016-02-01

    Nephrolithiasis, or renal stone disease, is common and the incidence is increasing globally. In the UK the lifetime risk is estimated to be 8-10%. On a population level, the increase in stone incidence, erosion of gender disparity, and younger age of onset is likely to reflect increasing prevalence of obesity and a Western diet with a high intake of animal protein and salt. Stones can be detected by a variety of imaging techniques. The gold standard is a non-contrast CT of kidneys, ureters and bladder (CT KUB) which can identify > 99% of stones. CT KUB should be the primary mode of imaging for all patients with colic unless contraindicated. In such instances, or if a CT KUB is not available, an ultrasound KUB is an alternative. This has advantages in terms of radiation exposure and cost, but is limited in sensitivity, particularly for ureteric stones. Once diagnosed, a plain film KUB can be used for follow-up of radiopaque stones. For most patients diclofenac is a reasonable first choice of analgesia, e.g. 50-100 mg rectally, or 75 mg IM. Opioid medication can worsen nausea and be less effective, but should be used if there is a contraindication to NSAIDs. A combination of diclofenac, paracetamol, and/or codeine regularly can provide adequate pain control in many cases. Failure of this analgesic combination should prompt consideration of secondary care support. If a ureteric stone < 5 mm in diameter is identified, the expectation is that this will pass without intervention. Initially medical management is still useful for stones between 5 and 10mm in diameter, but urology input is more likely to be necessary as up to 50% of these may require intervention. Stones that are >10 mm in diameter should be discussed with the urology service as they are unlikely to pass spontaneously. PMID:27032222

  10. Pharmacokinetics of iothalamate in endstage renal disease

    SciTech Connect

    Evans, J.R.; Cutler, R.E.; Forland, S.C.

    1988-09-01

    Some nephrologists make alterations in routine peritoneal and hemodialysis schedules after diagnostic studies that use radiographic contrast agents. A study to determine the pharmacokinetics of one contrast agent, iothalamate, is reported. The plasma (total body) clearance of iothalamate was measured in seven patients who had endstage renal disease (ESRD) and who received maintenance hemodialysis. During an interdialytic period, plasma clearance of iothalamate varied from 0.7 to 5.2 mL/min (3.1 +/- 1.8 mL/min, mean +/- SD) with an elimination rate constant (beta) of 0.0164 +/- 0.01 hr-1, a terminal half-life of 61 +/- 42 hours, and an estimated distribution volume of 11 +/- 3.9 L. Hemodialysis clearance of iothalamate was 104 +/- 54 mL/min. With the assumption that iothalamate is mainly distributed in the extracellular fluid (ECF) compartment, the theoretical fluid shift from the intracellular fluid (ICF) compartment to the ECF compartment was 323 mL after administration of the largest dose (2.1 mL/kg or 1.6 mmol/kg of body weight) of 60% meglumine iothalamate solution. The average maximum serum osmolarity change was less than expected, suggesting some type of internal buffering of meglumine iothalamate. In the first few hours after radiocontrast administration in four patients, the average change in serum osmolarity was 5 mmol/L; the average change in serum sodium concentration during this same time was a decrease of 0.5 mmol/L. The minor increase in ECF volume induced by hyperosmolar contrast agents does not require immediate dialysis in most patients. When needed, however, for contrast-related adverse effects, hemodialysis is efficient in rapidly removing iothalamate.

  11. Laboratory diagnosis of avian influenza virus H7N9 infection in a renal transplant recipient

    PubMed Central

    Cheng, Jun; Wang, Bo; Jiang, Xiaoxiao; Cui, Dawei; Chen, Jian; Dai, Yuzhu; Sun, Changgui

    2014-01-01

    A renal transplant recipient who had atypical clinical manifestations, unclear epidemiological exposure history and negative results from influenza virus antigen and nucleic acid amplification in throat swab specimens was admitted into our hospital on April 17, 2013. He was finally diagnosed as avian influenzavirus H7N9 infection. Here, we reviewed the epidemiological, clinical and laboratory findings of this patient. We speculated that the specimens should be collected repeatedly at different sites for suspected cases or special cases needing differential diagnosis; different methods or kits should be used for laboratory testing; atypical clinical manifestations caused by the special nature of patients such as long-term use of immunosuppressive agents and autoimmune diseases should also be taken into account. PMID:24600505

  12. Heart Health - Heart Disease: Symptoms, Diagnosis, Treatment

    MedlinePlus

    ... Bar Home Current Issue Past Issues Cover Story Heart Health Heart Disease: Symptoms, Diagnosis, Treatment Past Issues / Winter 2009 ... of this page please turn Javascript on. Most heart attacks happen when a clot in the coronary ...

  13. Ebola (Ebola Virus Disease): Diagnosis

    MedlinePlus

    ... Search The CDC Cancel Submit Search The CDC Ebola (Ebola Virus Disease) Note: Javascript is disabled or is ... message, please visit this page: About CDC.gov . Ebola (Ebola Virus Disease) About Ebola Questions & Answers 2014 ...

  14. Retrospective evaluation of renal disease in captive black howler monkeys (Alouatta caraya).

    PubMed

    Fontenot, Deidre K; Gregory, Christopher R; Lamberski, Nadine

    2004-09-01

    Six of 15 (40%) inactive medical records of adult black howler monkeys (Alouatta caraya) at one zoological institution included either a pre- or postmortem diagnosis of renal disease. In these six cases, significantly abnormal hematologic and serum chemistry values were reported at onset of azotemia, onset of clinical signs, and at euthanasia. Average age of onset of azotemia was 14.8 +/- 2.9 yr, with clinical signs of disease noted at 17 +/- 4.7 yr. In four of the cases (66.6%), azotemia was documented earlier than the onset of clinical signs of renal disease. Average duration of clinical disease was 2.83 +/- 1.6 yr, with an average age at euthanasia of 18 +/- 4.7 yr. Chronic tubulointerstitial nephritis with secondary glomerular sclerosis was present in all cases. Thirteen of an additional 20 institutions in the United States that have held Alouatta caraya responded to a survey for prevalence of renal disease. These institutions showed a lower prevalence (15.1%) of renal disease in complete, inactive records, a higher prevalence of glomerulonephritis, and similar significant clinicopathologic values. PMID:15526883

  15. Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease.

    PubMed

    Seppala, R; Renlund, M; Bernardini, I; Tietze, F; Gahl, W A

    1990-08-01

    The renal handling of free sialic acid, a negatively charged sugar, was investigated in normal humans and in patients with impaired sialic acid metabolism or impaired renal function. A sensitive assay for sialic acid, based upon the specific degradation of free sialic acid by N-acetylneuraminic acid aldolase, was developed to measure small amounts of sialic acid in human plasma. Using this assay on plasma from patients with disorders of sialic acid metabolism, we determined that the fractional excretion of sialic acid was maintained at approximately 98% over a wide range of filtered loads, i.e., from 40 to 2617 nmoles/minute. In other patients with different degrees of renal insufficiency, free sialic acid clearance varied directly with creatinine clearance, indicating filtration of this sugar by renal glomeruli. In patients with renal Fanconi syndrome, the urinary excretion of free sialic acid was independent of the severity of the generalized tubular defect, indicating that sialic acid was not reabsorbed by renal tubular cells. These findings indicate that sialic acid is filtered but not reabsorbed by the human kidney, in contrast with the handling of other sugars known to be reabsorbed by renal tubular cells. In addition, three of eight patients with Salla disease, a storage disorder due to impaired lysosomal transport of free sialic acid, were found to have reduced creatinine clearances, but all Salla disease patients had entirely normal renal tubular function. PMID:2381164

  16. Epidemic renal disease of unknown etiology in the Zuni Indians

    SciTech Connect

    Hoy, W.E.; Megill, D.M.; Hughson, M.D.

    1987-06-01

    An epidemic of renal disease is occurring among the Zuni Indians in western New Mexico. In 1985, 1.6% of Zunis had clinically recognized renal disease and 1% had renal insufficiency. The incidence of end-stage renal disease (ESRD) in 1984 and 1985 was 14 times the rate for US whites, and three times the rates of other Indians in ESRD network 6. One third of the cases of renal disease and ESRD is due to type 2 diabetes, but the etiology of disease in most of the remainder is unknown. Affected subjects range from early childhood to old age. Early signs are hematuria, mild to moderate proteinuria, normal BP, and low total hemolytic complement, normal or low C3 and C4 levels, in about 40% of the cases. The clinical course varies from benign to rapidly progressive renal failure. Biopsies usually reflect an immune-complex mediated mesangiopathic glomerulonephritis, with IgA, IgG, IgM, and C3 variably present in the mesangium. In some cases, there is a very strong familial pattern suggesting autosomal dominant inheritance or a marked communal exposure effect. This may be a genetic disease educed by the consanguinity in the ethnically homogeneous Zuni population. Mesangiopathic renal disease is common in some Oriental populations, and this phenomenon may reflect the American Indians' Oriental ancestry. This disease may also be due to toxic exposures related to jewelry-making, potting, Zuni water, Zuni salt, or herbal or other products used for medicinal or religious purposes. This epidemic is causing much morbidity and generating huge costs for ESRD treatment. Further study is needed to better understand its etiology.

  17. From anatomy to function: diagnosis of atherosclerotic renal artery stenosis.

    PubMed

    Odudu, Aghogho; Vassallo, Diana; Kalra, Philip A

    2015-12-01

    Atherosclerotic renal artery stenosis (ARAS) affects 7% of the over 65 s and will be increasingly common with an ageing population. ARAS obstructs normal renal perfusion with adverse renal and cardiovascular consequences. Drug therapy is directed at reducing atherosclerotic risk. Two recent major trials of revascularization for ARAS showed that clinical outcomes were not improved beyond those offered by optimal drug therapy in most patients. This reflects experimental data showing that restoration of blood flow alone may not attenuate a cascade of tissue injury. A shift from anatomic to functional imaging of ARAS coupled to novel therapies might improve clinical outcomes in selected patients. This review outlines the case for separately assessing hemodynamic significance of arterial stenosis and functional reserve of renal parenchymal tissue. The authors consider current and emerging diagnostic techniques for ARAS and their potential to allow individualized and functionally directed treatments. PMID:26480218

  18. [Diagnosis and management of chronic renal failure in the elderly].

    PubMed

    Segalen, Isabelle; Le Meur, Yannick

    2016-01-01

    The incidence of chronic renal failure in the elderly is rising due to the ageing of the general population. Its management, and notably nephroprotective therapies, must be adapted to the elderly person who is often frail and with multiple pathologies. The decision to start extra-renal purification does not depend on the patient's chronological age but on their physiological age and requires dialogue between the patient and their family, the geriatrician and the nephrologist. PMID:26805640

  19. Multiple facets of HIV-associated renal disease

    PubMed Central

    da Silva, D.R.; Gluz, I.C.; Kurz, J.; Thomé, G.G.; Zancan, R.; Bringhenti, R.N.; Schaefer, P.G.; dos Santos, M.; Barros, E.J.G.; Veronese, F.V.

    2016-01-01

    HIV infection has a broad spectrum of renal manifestations. This study examined the clinical and histological manifestations of HIV-associated renal disease, and predictors of renal outcomes. Sixty-one (64% male, mean age 45 years) HIV patients were retrospectively evaluated. Clinical presentation and renal histopathology were assessed, as well as CD4 T-cell count and viral load. The predictive value of histological lesion, baseline CD4 cell count and viral load for end-stage renal disease (ESRD) or death were determined using the Cox regression model. The outcomes of chronic kidney disease (CKD) and ESRD or death were evaluated by baseline CD4 cell count. The percent distribution at initial clinical presentation was non-nephrotic proteinuria (54%), acute kidney injury (28%), nephrotic syndrome (23%), and chronic kidney disease (22%). Focal segmental glomerulosclerosis (28%), mainly the collapsing form (HIVAN), acute interstitial nephritis (AIN) (26%), and immune complex-mediated glomerulonephritis (ICGN) (25%) were the predominant renal histology. Baseline CD4 cell count ≥200 cells/mm3 was a protective factor against CKD (hazard ratio=0.997; 95%CI=0.994-0.999; P=0.012). At last follow-up, 64% of patients with baseline CD4 ≥200 cells/mm3 had eGFR >60 mL·min-1·(1.73 m2)-1 compared to the other 35% of patients who presented with CD4 <200 cells/mm3 (log rank=9.043, P=0.003). In conclusion, the main histological lesion of HIV-associated renal disease was HIVAN, followed by AIN and ICGN. These findings reinforce the need to biopsy HIV patients with kidney impairment and/or proteinuria. Baseline CD4 cell count ≥200 cells/mm3 was associated with better renal function after 2 years of follow-up. PMID:27007656

  20. Pulmonary-renal vasculitic disorders: differential diagnosis and management.

    PubMed

    Jara, Luis J; Vera-Lastra, Olga; Calleja, Maria C

    2003-04-01

    Pulmonary-renal syndrome (PRS) is a combination of diffuse pulmonary hemorrhage and glomerulonephritis. Pulmonary-renal syndrome is not a single entity and is caused by a variety of conditions, including Goodpasturés syndrome associated with autoantibodies to the glomerular and alveolar basement membranes, various forms of primary systemic vasculitis associated with serum positivity for antineutrophil cytoplasmic antibodies (ANCA), cryoglobulinemia, systemic lupus erythematosus, systemic sclerosis, antiphospholipid syndrome, environmental factors, and drugs. The majority of cases of PRS are associated with ANCAs. The antigen target in Goodpasturés syndrome is the alpha-3 chain of type IV collagen. The antigen target in PRS associated with systemic vasculitis is proteinase-3 and myeloperoxidase. Pulmonary-renal syndrome has been observed from the first to the ninth decade of life. The widespread adoption of serologic testing performed in an appropriate clinical context hopefully will limit diagnostic delay. The goals of treatment in PRS are to remove the circulating antibodies, to stop further production of autoantibodies, and to remove any antigen that stimulates antibody production. Treatment is based on plasmapheresis, steroids, and cyclophosphamide; however, infections are frequent contributors to death, and less toxic alternatives may improve outcome and prognosis resulting in a long-term survival. The degree of renal function and the percent of crescents on renal biopsy are better predictors of outcome. Renal transplantation can be safely carried out in PRS. PMID:12628041

  1. Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

    PubMed Central

    Al-Hamed, Mohamed H; Kurdi, Wesam; Alsahan, Nada; Alabdullah, Zainab; Abudraz, Rania; Tulbah, Maha; Alnemer, Maha; Khan, Rubina; Al-Jurayb, Haya; Alahmed, Ahmed; Tahir, Asma I; Khalil, Dania; Edwards, Noel; Al Abdulaziz, Basma; Binhumaid, Faisal S; Majid, Salma; Faquih, Tariq; El-Kalioby, Mohamed; Abouelhoda, Mohamed; Altassan, Nada; Monies, Dorota; Meyer, Brian; Sayer, John A; Albaqumi, Mamdouh

    2016-01-01

    Background Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease. Methods To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal ultrasound examination with targeted exon sequencing, using a renal gene panel. A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys was investigated. Results In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal death. Extra renal malformations, including encephalocele, polydactyly and heart malformations, consistent with ciliopathy phenotypes, were frequently detected. Renal gene panel testing identified causative mutations in 21 out of 34 families (62%), where patient and parental DNA was available. In the remaining 10 families, where only parental DNA was available, 7 inferred causative mutations were found. Together, mutations were found in 12 different genes with a total of 13 novel pathogenic variants, including an inferred novel variant in NEK8. Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in our cohort. Conclusions In families with ciliopathy phenotypes, mutational analysis using a targeted renal gene panel allows a rapid molecular diagnosis and provides important information for patients, parents and their physicians. PMID:26862157

  2. Biopsy-proven renal disease in Ile-Ife, Nigeria: A histopathologic review

    PubMed Central

    Onwubuya, I. M.; Adelusola, K. A.; Sabageh, D.; Ezike, K. N.; Olaofe, O. O.

    2016-01-01

    Although various patterns of renal diseases have been reported from different renal biopsy registries worldwide, data from Nigeria remain scanty. A 10-year retrospective review of renal biopsies was conducted in our tertiary health care facility. All cases were reclassified based on their light microscopic features after the application of standard histochemical stains. A total of 165 cases were reviewed with a male:female ratio of 1.8:1 and a mean age of 15.4 ± 12.0 years. About 69.7% of the cases were below the age of 16 years, while only 2.4% were older than 50 years. The most common indications for biopsy were nephrotic syndrome (72.1%) and acute renal failure of unknown etiology (11.5%). Overall, glomerulonephritis (80%) was the most common histologic category and occurred only in individuals younger than 50 years old. Minimal change disease (22.9%) and membranoproliferative glomerulonephritis (21.9%) were the most common varieties in children, while membranous glomerulonephritis (30.6%) and focal segmental glomerulosclerosis (27.8%) were the commonest among the adult population. The initial histologic diagnosis was revised in 18 cases while a diagnosis was arrived at in seven cases initially adjudged as inadequate for assessment. This study showed that renal biopsy was predominantly performed in children and adolescents. Although glomerulonephritis was the predominant disease, the predominant histologic patterns varied with the patient age. Despite the scarcity of advanced diagnostic tools in resource-poor environments, routine use of histochemical stains is helpful in the evaluation of renal biopsies. PMID:26937073

  3. Down syndrome with end-stage renal disease.

    PubMed

    Kute, Vivek B; Vanikar, Aruna V; Shah, Pankaj R; Gumber, Manoj R; Patel, Himanshu V; Engineer, Divyesh P; Thakkar, Umang G; Trivedi, Hargovind L

    2013-10-01

    Down syndrome is one of the most common genetic causes of learning disabilities in children. Although the incidence of renal and urological involvement in Down syndrome is not very common, monitoring of patients with Down syndrome for renal diseases should be done regularly as patient's age into the second and third decades. With increased survival, it appears that a growing number of these patients present with chronic renal failure. Down syndrome patients are apparently not suited for peritoneal dialysis because of lacking cooperation. This procedure can be prone to failure, mainly because of an increased risk of peritonitis. Handling such patients especially those on peritoneal dialysis is challenging. Here we report a case of Down syndrome with end-stage renal disease treated with hemodialysis for 6 months. To the best of our knowledge and current literature review this is the first case report of a patient with Down syndrome undergoing hemodialysis. PMID:24426250

  4. Reversible renal impairment caused by thyroid disease.

    PubMed

    Chakera, Aron; Paul, Hans-Joerg; O'Callaghan, Chris A

    2010-04-01

    Renal impairment is a common finding in clinical practice and is increasingly recognized with the routine reporting of estimated glomerular filtration rates. Clinical assessment is essential to determine which of the many possible investigations are appropriate. Thyroid hormones regulate many cellular functions, and abnormalities of the active thyroid hormones, thyroxine (T(4)) and tri-iodothyronine (T(3)), can influence serum creatinine levels. Evaluation of thyroid function is easily overlooked, but important in this context, as hypothyroidism is common and can cause renal impairment, which is typically reversible. Renal dysfunction may also be more frequent in hyperthyroidism than is recognized. This report describe how a dramatic elevation in serum creatinine paralleled the development of hyperthyroidism, with a return of the creatinine to normal following treatment of the hyperthyroid state. PMID:20199343

  5. Molecular Diagnosis of Hemorrhagic Fever with Renal Syndrome Caused by Puumala Virus

    PubMed Central

    Lagerqvist, Nina; Hagström, Åsa; Lundahl, Malin; Nilsson, Elin; Juremalm, Mikael; Larsson, Inger; Alm, Erik; Bucht, Göran; Ahlm, Clas

    2016-01-01

    Rodent-borne hantaviruses cause two severe acute diseases: hemorrhagic fever with renal syndrome (HFRS) in Eurasia, and hantavirus pulmonary syndrome (HPS; also called hantavirus cardiopulmonary syndrome [HCPS]) in the Americas. Puumala virus (PUUV) is the most common causative agent of HFRS in Europe. Current routine diagnostic methods are based on serological analyses and can yield inconclusive results. Hantavirus-infected patients are viremic during the early phase of disease; therefore, detection of viral RNA genomes can be a valuable complement to existing serological methods. However, the high genomic sequence diversity of PUUV has hampered the development of molecular diagnostics, and currently no real-time reverse transcription-quantitative (RT)-PCR assay is available for routine diagnosis of HFRS. Here, we present a novel PUUV RT-PCR assay. The assay was validated for routine diagnosis of HFRS on samples collected in Sweden during the winter season from 2013 to 2014. The assay allowed detection of PUUV RNA in 98.7% of confirmed clinical HFRS samples collected within 8 days after symptomatic onset. In summary, this study shows that real-time RT-PCR can be a reliable alternative to serological tests during the early phase of HFRS. PMID:26962084

  6. Molecular Diagnosis of Hemorrhagic Fever with Renal Syndrome Caused by Puumala Virus.

    PubMed

    Lagerqvist, Nina; Hagström, Åsa; Lundahl, Malin; Nilsson, Elin; Juremalm, Mikael; Larsson, Inger; Alm, Erik; Bucht, Göran; Ahlm, Clas; Klingström, Jonas

    2016-05-01

    Rodent-borne hantaviruses cause two severe acute diseases: hemorrhagic fever with renal syndrome (HFRS) in Eurasia, and hantavirus pulmonary syndrome (HPS; also called hantavirus cardiopulmonary syndrome [HCPS]) in the Americas. Puumala virus (PUUV) is the most common causative agent of HFRS in Europe. Current routine diagnostic methods are based on serological analyses and can yield inconclusive results. Hantavirus-infected patients are viremic during the early phase of disease; therefore, detection of viral RNA genomes can be a valuable complement to existing serological methods. However, the high genomic sequence diversity of PUUV has hampered the development of molecular diagnostics, and currently no real-time reverse transcription-quantitative (RT)-PCR assay is available for routine diagnosis of HFRS. Here, we present a novel PUUV RT-PCR assay. The assay was validated for routine diagnosis of HFRS on samples collected in Sweden during the winter season from 2013 to 2014. The assay allowed detection of PUUV RNA in 98.7% of confirmed clinical HFRS samples collected within 8 days after symptomatic onset. In summary, this study shows that real-time RT-PCR can be a reliable alternative to serological tests during the early phase of HFRS. PMID:26962084

  7. Minimally Invasive Treatment of Small Renal Tumors: Trends in Renal Cancer Diagnosis and Management

    SciTech Connect

    Breen, David J. Railton, Nicholas J.

    2010-10-15

    Renal cell carcinoma is a common malignancy causing significant mortality. In recent years abdominal imaging, often for alternate symptomatology, has led the trend toward the detection and confirmation of smaller renal tumors. This has permitted the greater use of localized and nephron-sparing techniques including partial nephrectomy and image-guided ablation. This article aims to review the current role of image-guided biopsy and ablation in the management of small renal tumors. The natural history of renal cell carcinoma, the role of renal biopsy, the principles and procedural considerations of thermal energy ablation, and the oncological outcomes of these minimally invasive treatments are discussed and illustrated with cases from the authors' institution. Image-guided ablation, in particular, has changed the treatment paradigm and, by virtue of its increasingly evident efficacy and low morbidity, now favors the treatment of smaller tumors in patients previously unfit for surgery.

  8. Deaths from Occlusive Arterial Disease in Renal Allograft Recipients

    PubMed Central

    Ibels, L. S.; Stewart, J. H.; Mahony, J. F.; Sheil, A. G. R.

    1974-01-01

    In a series of 325 recipients of cadaveric renal transplants sudden occlusive arterial disease was found to be responsible for 12% of deaths. Acute myocardial infarction (9%) occurred 25 times more than expected in the normal population and cerebral thrombosis (3%) 300 times more. The greatest loss was in the initial three-month period after transplantation. Patients with renal failure due to essential hypertension were especially at risk, accounting for six of the 12 deaths. PMID:4606408

  9. Controversies in the pathogenesis of HIV-associated renal diseases

    PubMed Central

    Bruggeman, Leslie A.; Nelson, Peter J.

    2009-01-01

    The two most common HIV-associated renal diseases, HIV-associated nephropathy and HIV-immune-complex kidney disease, share the common pathologic finding of hyperplasia within the glomerulus. Podocyte injury is central to the pathogenesis of these diseases; however, the source of the proliferating glomerular epithelial cell remains a topic of debate. Parenchymal injury has been linked to direct infection of renal epithelial cells by HIV-1, although the mechanism of viral entry into this non-lymphoid compartment is unclear. Although transgenic rodent models have provided insight into viral proteins responsible for inducing renal disease, such models have important limitations. Rodent HIV-1 models, for instance, cannot replicate all aspects of immune activation, a process that could have an important role in the pathogenesis PMID:19776779

  10. Emotional trauma associated with renal disease and natural disasters.

    PubMed

    McClellan, M J

    2001-10-01

    Emotional trauma frequently follows any disaster such as fire, flood, earthquake, accidents, war, bombings, and life-threatening disease. One such disease is end stage renal disease (ESRD), an irreversible, progressive loss of renal function (Lancaster, 1995). Since this is a "do or die" situation, it requires artificial methods of hemodialysis, peritoneal dialysis, or transplant, which require learned coping skills. Emotional trauma may occur pre or post-disaster and may include flashbacks when events trigger suppressed memories or unresolved emotions. Aftercare of disasters requires dedicated professionals to guide patients toward essential lifelines. PMID:12143429

  11. Parkinson's disease. Diagnosis and treatment.

    PubMed Central

    Ng, D C

    1996-01-01

    Although Parkinson's disease is primarily a neurologic disorder, primary care physicians should be knowledgeable about the disease and its treatment because most patients will see their primary care physician first for their symptoms. Furthermore, in today's setting of managed care, primary care physicians will likely be called on even more to assume primary responsibility for the treatment of patients afflicted with Parkinson's disease; neurologists will likely play the role of consultants who see a patient only periodically and offer recommendations and advice for the primary care physicians to implement. PMID:8987437

  12. Cytologic diagnosis of diseases of hedgehogs.

    PubMed

    Juan-Sallés, Carles; Garner, Michael M

    2007-01-01

    This article focuses on neoplastic diseases because they may be the most frequent disease processes in captive hedgehogs according to the literature and authors' case files and the most common cases submitted for cytologic diagnosis in these species, particularly the African hedgehog (Atelerix albiventris). PMID:17198959

  13. Developing a provisional and national renal disease registry for Iran

    PubMed Central

    Ajami, Sima; Askarianzadeh, Mahdi; Mortazavi, Mojgan

    2015-01-01

    Background: Disease registry is a database that includes information about people suffering a special kind of disease. The aim of this study was to first identify and compare the National Renal Disease Registry (NRDR) characteristics in some countries with Iran; and second, develop a provisional and NRDR for Iran. Materials and Methods: Retrieval of data of the NRDR was performed by scholars responsible in related agencies, including the Ministry of Health and Medical Education, Renal Disease charity, and data registries in the United States, United Kingdom, Malaysia, and Iran. This research was applied, and the study was descriptive-comparative. The study population consisted of the NRDR in selected countries in which data were collected by forms that were designed according to the study objectives. Sources of data were researchers, articles, books, journals, databases, websites, related documents, and people who are active in this regard, and related agencies, including the Ministry of Health and Medical Education, and patient support charity. The researchers collected data for each country based on the study objectives and then put them in comparative tables. Data were analyzed by descriptive, comparative, and theoretical methods. Results: Most of the renal transplant teams report their own results as a single center experiences. America and Britain have a preeminent national registry of renal disease compared to other countries. Conclusion: Given that control, prevention, and treatment of chronic renal diseases incur high expenses and the disease is one of leading mortality factors in Iran and across the world and since national registry system for chronic renal diseases can provide better tools and strategies to manage and evaluate patients’ characteristics as well as risk factors which eventually leads to making better decisions. PMID:26109970

  14. Impact of Iodinated Contrast on Renal Function and Hemodynamics in Rats with Chronic Hyperglycemia and Chronic Kidney Disease

    PubMed Central

    Fernandes, Sheila Marques; Martins, Daniel Malisani; da Fonseca, Cassiane Dezoti; Watanabe, Mirian; Vattimo, Maria de Fátima Fernandes

    2016-01-01

    Iodinated contrast (IC) is clinically used in diagnostic and interventional procedures, but its use can result in contrast-induced acute kidney injury (CI-AKI). Chronic kidney disease (CKD) and chronic hyperglycemia (CH) are important predisposing factors to CI-AKI. The aim of this study was to investigate the impact of iodinated contrast on the renal function and hemodynamics in rats with chronic hyperglycemia and chronic kidney disease. A total of 30 rats were divided into six groups; Sham: control of chronic renal disease; Citrate: control of chronic hyperglycemia (CH); Nx5/6: rats with 5/6 nephrectomy; Chronic Hyperglycemia: rats receiving Streptozotocin 65 mg/kg; Nx5/6 + IC: rats Nx5/6 received 6 mL/kg of IC; CH + IC: Chronic hyperglycemia rats receiving 6 mL/kg of IC. Renal function (inulin clearance; urinary neutrophil gelatinase-associated lipocalin, NGAL) and hemodynamics (arterial blood pressure; renal blood flow; renal vascular resistance) were evaluated. Iodinated contrast significantly increased urinary NGAL and reduced inulin clearance, while the hemodynamics parameters showed changes in arterial blood pressure, renal blood flow, and renal vascular resistance in both CKD and CH groups. The results suggest that the iodinated contrast in risk factors models has important impact on renal function and hemodynamics. NGAL was confirmed to play a role of highlight in diagnosis of CI-AKI. PMID:27034930

  15. Impact of Iodinated Contrast on Renal Function and Hemodynamics in Rats with Chronic Hyperglycemia and Chronic Kidney Disease.

    PubMed

    Fernandes, Sheila Marques; Martins, Daniel Malisani; da Fonseca, Cassiane Dezoti; Watanabe, Mirian; Vattimo, Maria de Fátima Fernandes

    2016-01-01

    Iodinated contrast (IC) is clinically used in diagnostic and interventional procedures, but its use can result in contrast-induced acute kidney injury (CI-AKI). Chronic kidney disease (CKD) and chronic hyperglycemia (CH) are important predisposing factors to CI-AKI. The aim of this study was to investigate the impact of iodinated contrast on the renal function and hemodynamics in rats with chronic hyperglycemia and chronic kidney disease. A total of 30 rats were divided into six groups; Sham: control of chronic renal disease; Citrate: control of chronic hyperglycemia (CH); Nx5/6: rats with 5/6 nephrectomy; Chronic Hyperglycemia: rats receiving Streptozotocin 65 mg/kg; Nx5/6 + IC: rats Nx5/6 received 6 mL/kg of IC; CH + IC: Chronic hyperglycemia rats receiving 6 mL/kg of IC. Renal function (inulin clearance; urinary neutrophil gelatinase-associated lipocalin, NGAL) and hemodynamics (arterial blood pressure; renal blood flow; renal vascular resistance) were evaluated. Iodinated contrast significantly increased urinary NGAL and reduced inulin clearance, while the hemodynamics parameters showed changes in arterial blood pressure, renal blood flow, and renal vascular resistance in both CKD and CH groups. The results suggest that the iodinated contrast in risk factors models has important impact on renal function and hemodynamics. NGAL was confirmed to play a role of highlight in diagnosis of CI-AKI. PMID:27034930

  16. Cerebral Whipple's disease. Diagnosis by brain biopsy.

    PubMed

    Johnson, L; Diamond, I

    1980-10-01

    Whipple's disease, a multisystem chronic granulomatous disease treatable by antibiotics, usually presents clinically with gastrointestinal or joint symptoms. Usually, the diagnosis is substantiated by small intestinal biopsy. This shows diastase-resistant periodic-acid-Schiff-(PAS)-positive inclusions in the cytoplasm of macrophages within the lamina propria. By electron microscopy, this PAS-positive material consists of 1.5 X 0.2-mum bacilli and fine fibrillar material within macrophage phagolysosomes. Rarely, Whipple's disease presents clinically as a primary neurologic disease without gastrointestinal symptoms. Because untreated cerebral Whipple's disease usually progresses rapidly to death, it is imperative to establish the diagnosis promptly. This report describes a case of cerebral Whipple's disease without gastrointestinal symptoms that was diagnosed early by light-and electron-microscopic study of brain biopsy material. PMID:6158859

  17. Pattern of renal diseases in children: A developing country experience.

    PubMed

    Yadav, Shankar Prasad; Shah, Gauri Shankar; Mishra, Om Prakash; Baral, Nirmal

    2016-03-01

    Spectrum of renal disease varies in different ethnic population, geographical location, and by environmental factors. The purpose of this study was to find out the clinical spectrum and occurrence of different pediatric renal diseases at a teaching hospital in the Eastern part of Nepal. All cases of renal diseases from one month to 15 years of age, attending the pediatric renal outpatient department and/or were admitted to the wards during the period of February 2012 to January 2013, were included in the study. Detailed clinical and laboratory evaluations were performed on all patients. Diseases were categorized as per standard definitions and managed with hospital protocols. Renal diseases accounted to be 206 cases (6.9%) of total annual pediatric admissions, of which (58%) were male and (42%) female. Acute glomerulonephritis (AGN) was the most common disorder (37.7%) followed by nephrotic syndrome (26.1%), urinary tract infection (21.3%), acute kidney injury (AKI) (17.9%), obstructive uropathy (1.9%), chronic kidney disease (CKD) (1.2%), and others. In AGN group, the most common cause was post-infectious glomerulonephritis (PIGN) (32.9%) followed by lupus nephritis (4%) and Henoch-Schonlein purpura nephritis (0.8%). Urine culture was positive in (9.22%) and the most common organism was Escherichia coli (57.9%). The causes of AKI were urosepsis, septicemia, and AGN (18.9%) each, followed by dehydration (13.5%). Mortality was found in 5% of cases and the etiologies were AKI in (72.7%), PIGN (18.1%), and CKD (9%). Renal diseases are a significant problem among children and are one of the common causes of hospital admission. These patients need comprehensive services for early identification and management. PMID:26997393

  18. Diagnosis of enteric disease in small ruminants.

    PubMed

    Van Metre, D C; Tyler, J W; Stehman, S M

    2000-03-01

    Diagnosis of gastrointestinal disease in small ruminants requires integration of information obtained in the signalment, history, physical or necropsy examination, and ancillary diagnostic tests. The purpose of this article is to provide the practitioner with a review of the clinical features of several common gastrointestinal diseases of sheep and goats. Rumen acidosis, enterotoxemia, gastrointestinal parasitism, neonatal diarrhea, and salmonellosis are discussed, and where appropriate, reviews of the pathophysiology, prevention, and control of these diseases are cited for further reading. PMID:10707415

  19. A case of successful renal transplantation for hydatid disease after surgical treatment of disseminated cysts.

    PubMed

    Özdemir, M; Ringe, K I; Schrem, H; Kleine, M; Meyer Zu Vilsendorf, A; Klempnauer, J; Lehner, F; Jäger, M; Bektas, H

    2015-06-01

    Hydatid disease is a systemic disorder affecting especially the liver and lungs. Although it is not endemic in Europe, it can be seen sporadically, particularly because of travel and immigration. Severe, multiple organ involvement is quite rare. A 39-year-old Kurdish male patient presented with the previous diagnosis of hydatid disease and disseminated cysts in the liver, lung, and left kidney, leading to renal failure and the need for hemodialysis. Following multiple operations, complete eradication of infectious cysts was achieved, and kidney transplantation was performed. After 4 years of follow-up, the patient is in good condition, especially with normal renal function and no sign of recurrent hydatid disease. PMID:25704879

  20. A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

    PubMed

    Edwards, Noel; Rice, Sarah J; Raman, Shreya; Hynes, Ann Marie; Srivastava, Shalabh; Moore, Iain; Al-Hamed, Mohamed; Xu, Yaobo; Santibanez-Koref, Mauro; Thwaites, David T; Gale, Daniel P; Sayer, John A

    2015-02-01

    End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited forms of this disease, termed nail-patella-like renal disease (NPLRD), and LMX1B nephropathy have recently been described. We report a large family, from the North East of England, with seven affected members with varying phenotypes of renal disease, ranging from ESRD at 28 years of age to microscopic haematuria and proteinuria and relatively preserved renal function. In this family, there were no extra-renal manifestations to suggest NPS. Genome-wide linkage studies and inheritance by descent (IBD) suggested disease loci on Chromosome 1 and 9. Whole exome sequencing (WES) analysis identified a novel sequence variant (p.R249Q) in the LMX1B gene in each of the three samples submitted, which was confirmed using Sanger sequencing. The variant segregated with the disease in all affected individuals. In silico modelling revealed that R249 is putatively located in close proximity to the DNA phosphoskeleton, supporting a role for this residue in the interaction between the LMX1B homeodomain and its target DNA. WES and analysis of potential target genes, including CD2AP, NPHS2, COL4A3, COL4A4 and COL4A5, did not reveal any co-inherited pathogenic variants. In conclusion, we confirm a novel LMX1B mutation in a large family with an autosomal dominant pattern of nephropathy. This report confirms that LMX1B mutations may cause a glomerulopathy without extra-renal manifestations. A molecular genetic diagnosis of LMX1B nephropathy thus provides a definitive diagnosis, prevents the need for renal biopsies and allows at risk family members to be screened. PMID:25713721

  1. A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’

    PubMed Central

    Edwards, Noel; Rice, Sarah J.; Raman, Shreya; Hynes, Ann Marie; Srivastava, Shalabh; Moore, Iain; Al-Hamed, Mohamed; Xu, Yaobo; Santibanez-Koref, Mauro; Thwaites, David T.; Gale, Daniel P.; Sayer, John A.

    2015-01-01

    End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited forms of this disease, termed nail-patella-like renal disease (NPLRD), and LMX1B nephropathy have recently been described. We report a large family, from the North East of England, with seven affected members with varying phenotypes of renal disease, ranging from ESRD at 28 years of age to microscopic haematuria and proteinuria and relatively preserved renal function. In this family, there were no extra-renal manifestations to suggest NPS. Genome-wide linkage studies and inheritance by descent (IBD) suggested disease loci on Chromosome 1 and 9. Whole exome sequencing (WES) analysis identified a novel sequence variant (p.R249Q) in the LMX1B gene in each of the three samples submitted, which was confirmed using Sanger sequencing. The variant segregated with the disease in all affected individuals. In silico modelling revealed that R249 is putatively located in close proximity to the DNA phosphoskeleton, supporting a role for this residue in the interaction between the LMX1B homeodomain and its target DNA. WES and analysis of potential target genes, including CD2AP, NPHS2, COL4A3, COL4A4 and COL4A5, did not reveal any co-inherited pathogenic variants. In conclusion, we confirm a novel LMX1B mutation in a large family with an autosomal dominant pattern of nephropathy. This report confirms that LMX1B mutations may cause a glomerulopathy without extra-renal manifestations. A molecular genetic diagnosis of LMX1B nephropathy thus provides a definitive diagnosis, prevents the need for renal biopsies and allows at risk family members to be screened. PMID:25713721

  2. Renal Primordia Activate Kidney Regenerative Events in a Rat Model of Progressive Renal Disease

    PubMed Central

    Imberti, Barbara; Corna, Daniela; Rizzo, Paola; Xinaris, Christodoulos; Abbate, Mauro; Longaretti, Lorena; Cassis, Paola; Benedetti, Valentina; Benigni, Ariela; Zoja, Carlamaria; Remuzzi, Giuseppe; Morigi, Marina

    2015-01-01

    New intervention tools for severely damaged kidneys are in great demand to provide patients with a valid alternative to whole organ replacement. For repairing or replacing injured tissues, emerging approaches focus on using stem and progenitor cells. Embryonic kidneys represent an interesting option because, when transplanted to sites such as the renal capsule of healthy animals, they originate new renal structures. Here, we studied whether metanephroi possess developmental capacity when transplanted under the kidney capsule of MWF male rats, a model of spontaneous nephropathy. We found that six weeks post-transplantation, renal primordia developed glomeruli and tubuli able to filter blood and to produce urine in cyst-like structures. Newly developed metanephroi were able to initiate a regenerative-like process in host renal tissues adjacent to the graft in MWF male rats as indicated by an increase in cell proliferation and vascular density, accompanied by mRNA and protein upregulation of VEGF, FGF2, HGF, IGF-1 and Pax-2. The expression of SMP30 and NCAM was induced in tubular cells. Oxidative stress and apoptosis markedly decreased. Our study shows that embryonic kidneys generate functional nephrons when transplanted into animals with severe renal disease and at the same time activate events at least partly mimicking those observed in kidney tissues during renal regeneration. PMID:25811887

  3. Renal primordia activate kidney regenerative events in a rat model of progressive renal disease.

    PubMed

    Imberti, Barbara; Corna, Daniela; Rizzo, Paola; Xinaris, Christodoulos; Abbate, Mauro; Longaretti, Lorena; Cassis, Paola; Benedetti, Valentina; Benigni, Ariela; Zoja, Carlamaria; Remuzzi, Giuseppe; Morigi, Marina

    2015-01-01

    New intervention tools for severely damaged kidneys are in great demand to provide patients with a valid alternative to whole organ replacement. For repairing or replacing injured tissues, emerging approaches focus on using stem and progenitor cells. Embryonic kidneys represent an interesting option because, when transplanted to sites such as the renal capsule of healthy animals, they originate new renal structures. Here, we studied whether metanephroi possess developmental capacity when transplanted under the kidney capsule of MWF male rats, a model of spontaneous nephropathy. We found that six weeks post-transplantation, renal primordia developed glomeruli and tubuli able to filter blood and to produce urine in cyst-like structures. Newly developed metanephroi were able to initiate a regenerative-like process in host renal tissues adjacent to the graft in MWF male rats as indicated by an increase in cell proliferation and vascular density, accompanied by mRNA and protein upregulation of VEGF, FGF2, HGF, IGF-1 and Pax-2. The expression of SMP30 and NCAM was induced in tubular cells. Oxidative stress and apoptosis markedly decreased. Our study shows that embryonic kidneys generate functional nephrons when transplanted into animals with severe renal disease and at the same time activate events at least partly mimicking those observed in kidney tissues during renal regeneration. PMID:25811887

  4. Rapid diagnosis of Legionnaires' disease.

    PubMed Central

    White, A.; Kohler, R. B.; Wheat, L. J.; Sathapatayavongs, B.; Winn, W. C.; Girod, J. C.; Edelstein, P. H.

    1982-01-01

    An enzyme linked immunosorbent assay was developed to detect urinary antigen excreted by patients with Legionnaires' disease. Of 47 patients tested, antigen was detected in 39. Antigen was not detected in any of 178 urine specimens from patients with other pulmonary, bacteremic, or urinary tract infections after performance of a quick and simple confirmatory test. The assay required more time to perform than a previously described radioimmunoassay but was of equivalent sensitivity and specificity and did not require expensive equipment of contact with radioactive reagents. We conclude that enzyme linked immunosorbent assay is a rapid, sensitive, and specific means for rapidly diagnosing Legionnaires' disease which can be performed in clinical laboratories unwilling or unable to use radioisotopes. PMID:7048694

  5. Primary disease recurrence—effects on paediatric renal transplantation outcomes.

    PubMed

    Bacchetta, Justine; Cochat, Pierre

    2015-06-01

    Primary disease recurrence after renal transplantation is mainly diagnosed by examination of biopsy samples, but can also be associated with clinical symptoms. In some patients, recurrence can lead to graft loss (7-8% of all graft losses). Primary disease recurrence is generally associated with a high risk of graft loss in patients with focal segmental glomerulosclerosis, membranous proliferative glomerulonephritis, primary hyperoxaluria or atypical haemolytic uraemic syndrome. By contrast, disease recurrence is associated with a limited risk of graft loss in patients with IgA nephropathy, renal involvement associated with Henoch-Schönlein purpura, antineutrophil cytoplasmic antibody-associated glomerulonephritis or lupus nephritis. The presence of systemic diseases that affect the kidneys, such as sickle cell anaemia and diabetes mellitus, also increases the risk of delayed graft loss. This Review provides an overview of the epidemiology, pathophysiology and management of primary disease recurrence in paediatric renal graft recipients, and describes the overall effect on graft survival of each of the primary diseases listed above. With appropriate management, few paediatric patients should be excluded from renal transplantation programmes because of an increased risk of recurrence. PMID:25917555

  6. [Cucumber diseases diagnosis using multispectral imaging technique].

    PubMed

    Feng, Jie; Liao, Ning-Fang; Zhao, Bo; Luo, Yong-Dao; Li, Bao-Ju

    2009-02-01

    For a reliable diagnosis of plant diseases and insect pests, spectroscopy analysis technique and mutispectral imaging technique are proposed to diagnose five cucumber diseases, namely Trichothecium roseum, Sphaerotheca fuliginea, Cladosporium cucumerinum, Corynespora cassiicola and Pseudoperonospora cubensis. In the experiment, the cucumbers' multispectral images of 14 visible lights channels, near infrared channel and panchromatic channel were captured using narrow-band multispectral imaging system under standard observation environment. And the 5 cucumber diseases, healthy leaves and reference white were classified using their multispectral information, the distance, angle and relativity. The discrimination of Trichothecium roseum, Sphaerotheca fuliginea, Cladosporium cucumerinum, and reference white was 100%, and that of Pseudoperonospora cubensis and healthy leaves was 80% and 93.33% respectively. The mean correct discrimination of diseases was 81.90% when the distance and relativity were used together. The result shows that the method realized good accuracy in the cucumber diseases diagnosis. PMID:19445229

  7. [RARE DISEASES DTC: DIAGNOSIS, TREATMENT AND CARE].

    PubMed

    Mendlovic, Joseph; Barash, Hila; Yardeni, Hadar; Banet-Levi, Yonit; Yonath, Hagith; Raas-Rothschild, Annick

    2016-04-01

    Rare diseases are chronic, progressive genetic disorders, which affect around 6-8% of the general population, mainly children. Therefore, in Israel approximately 500,000 people are probably affected by a rare disease. In this article, we review some of the issues pertaining to rare diseases, such as the need for accurate diagnosis which is necessary not only for specific care and treatment but also for informed family planning. In addition, we review the impact of the activities of patients' organizations on the awareness of rare diseases and their involvement in the creation of the Orphan Drug Act, which was the leading point on the way to drug development worldwide. During the last few years networks for reaching leading specialists' opinions on the way to proper diagnosis were created. Thereafter, the next generation genetic technologies, such as exome sequencing, have been a revolution in terms of options and hope for patients with rare undiagnosed diseases. Patients with rare diseases and their families are a challenge to the health care system, not only in terms of diagnosis and therapy, but also in terms of special needs. In addition, deciphering molecular pathways of rare diseases might be the key for understanding molecular events involved in common disorders. We emphasize the duty to ensure appropriate capacity and equal access to follow-up and clinical management of patients with rare diseases in Israel. PMID:27323543

  8. Rosuvastatin-induced arrest in progression of renal disease.

    PubMed

    Vidt, Donald G; Cressman, Michael D; Harris, Susan; Pears, John S; Hutchinson, Howard G

    2004-01-01

    Preclinical and limited clinical data suggest that statins decrease the progressive decline in renal function that occurs in patients with renal disease. Pooled analysis of data obtained from a population of hyperlipidemic patients enrolled in the rosuvastatin (Crestor) clinical development program permitted assessment of its effects on renal function both early and later in the course of treatment. Study participants were initially included in controlled clinical trials that evaluated the lipid-lowering efficacy and safety of rosuvastatin when compared with placebo or other lipid-lowering agents (i.e., atorvastatin, simvastatin, pravastatin, cholestyramine, fenofibrate or extended-release niacin). The median duration of treatment with the various doses of statins in these trials was approximately 8 weeks. Following completion of a controlled clinical trial, patients were permitted to enter an open-label extension trial and received rosuvastatin treatment. These data permitted assessment of renal function in a diverse group of over 10,000 patients who received rosuvastatin in its recommended dose range (5-40 mg) for up to 3.8 years. Mean serum creatinine concentrations were lower when compared with baseline both early and later in the course of rosuvastatin treatment. In contrast, no change in mean serum creatinine was observed with placebo. Mean glomerular filtration rates (GFR) predicted from the Modification of Diet in Renal Disease (MDRD) equation were higher when compared with baseline both early and later in the course of rosuvastatin treatment. No change in GFR was observed in the placebo group. Among patients who received long-term rosuvastatin treatment (> or =96 weeks), GFR was unchanged or tended to increase, rather than decrease, when compared with baseline irrespective of age, gender, hypertensive or diabetic status, level of renal function (GFR > or =60 vs. <60 ml/min/1.73 m(2)) at entry or urine dipstick protein status prior to or during the period

  9. The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

    PubMed

    Savige, Judy; Dalgleish, Raymond; Cotton, Richard Gh; den Dunnen, Johan T; Macrae, Finlay; Povey, Sue

    2015-11-01

    A recent review identified 60 common inherited renal diseases caused by DNA variants in 132 different genes. These diseases can be diagnosed with DNA sequencing, but each gene probably also has a thousand normal variants. Many more normal variants have been characterised by individual laboratories than are reported in the literature or found in publicly accessible collections. At present, testing laboratories must assess each novel change they identify for pathogenicity, even when this has been done elsewhere previously, and the distinction between normal and disease-associated variants is particularly an issue with the recent surge in exomic sequencing and gene discovery projects. The Human Variome Project recommends the establishment of gene-specific DNA variant databases to facilitate the sharing of DNA variants and decisions about likely disease causation. Databases improve diagnostic accuracy and testing efficiency, and reduce costs. They also help with genotype-phenotype correlations and predictive algorithms. The Human Variome Project advocates databases that use standardised descriptions, are up-to-date, include clinical information and are freely available. Currently, the genes affected in the most common inherited renal diseases correspond to 350 different variant databases, many of which are incomplete or have insufficient clinical details for genotype-phenotype correlations. Assistance is needed from nephrologists to maximise the usefulness of these databases for the diagnosis and management of inherited renal disease. PMID:25384529

  10. IgG4-related renal disease: clinical and pathological characteristics.

    PubMed

    Kuroda, Naoto; Nao, Tomoya; Fukuhara, Hideo; Karashima, Takashi; Inoue, Keiji; Taniguchi, Yoshinori; Takeuchi, Mai; Zen, Yoh; Sato, Yasuharu; Notohara, Kenji; Yoshino, Tadashi

    2014-01-01

    IgG4-related disease is a recently established systemic condition. Tubulointerstitial nephritis is the most common renal manifestation. Glomerular lesions, particularly membranous glomerulonephritis, can develop simultaneously. Some patients present with serological renal dysfunction associated with elevated IgG or IgE levels and hypocomplementemia, while others are incidentally found to have abnormalities in kidneys on imaging. A majority of patients with IgG4-related kidney disease have similar lesions at other anatomical sites, which help us to suspect this condition. Serum IgG4 elevation (>135 mg/dL) is the most, although not entirely, specific marker for the diagnosis. Imaging findings varies from small nodules to bilateral diffuse abnormalities. In addition to the renal parenchyma, the renal pelvis and perirenal adipose tissue can be affected. Histological features include dense lymphoplasmacytic infiltration, storiform or "bird's eye" fibrosis (highlighted by PAM stain), and IgG4-positive plasma cell infiltration (>10 cells/high-power field and IgG4/IgG-positive cell ratio >40%). Immune complex deposition is detectable in the tubular basement membrane by immunofluorescence and/or electron microscopy. Patients usually respond well to corticosteroids, but highly active diseases may require other immunosuppressive therapies. Further investigations will be required to fully understand pathophysiology underlying this emerging condition. PMID:25337295

  11. Vaccinations in children on immunosuppressive medications for renal disease.

    PubMed

    Banerjee, Sushmita; Dissanayake, Pathum Vindana; Abeyagunawardena, Asiri Samantha

    2016-09-01

    Renal diseases are often treated with immunosuppressive medications, placing patients at risk of infections, some of which are vaccine-preventable. However, in such patients vaccinations may be delayed or disregarded due to complications of the underlying disease process and challenges in its management. The decision to administer vaccines to immunosuppressed children is a risk-benefit balance as such children may have a qualitatively diminished immunological response or develop diseases caused by the vaccine pathogen. Vaccination may cause a flare-up of disease activity or provocation of graft rejection in renal transplant recipients. Moreover, it cannot be assumed that a given antibody level provides the same protection in immunosupressed children as in healthy ones. We have evaluated the safety and efficacy of licensed vaccines in children on immunosuppressive therapy and in renal transplant recipients. The limited evidence available suggests that vaccines are most effective if given early, ideally before the requirement for immunosuppressive therapy, which may require administration of accelerated vaccine courses. Once treatment with immunosuppressive drugs is started, inactivated vaccines are usually considered to be safe when the disease is quiescent, but supplemental doses may be required. In the majority of cases, live vaccines are to be avoided. All vaccines are generally contraindicated within 3-6 months of a renal transplant. PMID:26450774

  12. Regulatory T cells in immune-mediated renal disease.

    PubMed

    Ghali, Joanna R; Wang, Yuan Min; Holdsworth, Stephen R; Kitching, A Richard

    2016-02-01

    Regulatory T cells (Tregs) are CD4+ T cells that can suppress immune responses by effector T cells, B cells and innate immune cells. This review discusses the role that Tregs play in murine models of immune-mediated renal diseases and acute kidney injury and in human autoimmune kidney disease (such as systemic lupus erythematosus, anti-glomerular basement membrane disease, anti-neutrophil cytoplasmic antibody-associated vasculitis). Current research suggests that Tregs may be reduced in number and/or have impaired regulatory function in these diseases. Tregs possess several mechanisms by which they can limit renal and systemic inflammatory immune responses. Potential therapeutic applications involving Tregs include in vivo induction of Tregs or inducing Tregs from naïve CD4+ T cells or expanding natural Tregs ex vivo, to use as a cellular therapy. At present, the optimal method of generating a phenotypically stable pool of Tregs with long-lasting suppressive effects is not established, but human studies in renal transplantation are underway exploring the therapeutic potential of Tregs as a cellular therapy, and if successful may have a role as a novel therapy in immune-mediated renal diseases. PMID:26206106

  13. Diagnosis and management of kawasaki disease.

    PubMed

    Saguil, Aaron; Fargo, Matthew; Grogan, Scott

    2015-03-15

    Kawasaki disease is an acute, systemic vasculitis that predominantly affects patients younger than five years. It represents the most prominent cause of acquired coronary artery disease in childhood. In the United States, 19 per 100,000 children younger than five years are hospitalized with Kawasaki disease annually. According to U.S. and Japanese guidelines, Kawasaki disease is a clinical diagnosis. Classic (typical) Kawasaki disease is diagnosed based on the presence of a fever lasting five or more days, accompanied by four out of five findings: bilateral conjunctival injection, oral changes such as cracked and erythematous lips and strawberry tongue, cervical lymphadenopathy, extremity changes such as erythema or palm and sole desquamation, and polymorphous rash. Incomplete (atypical) Kawasaki disease occurs in persons with fever lasting five or more days and with two or three of these findings. Transthoracic echocardiography is the diagnostic imaging modality of choice to screen for coronary aneurysms, although other techniques are being evaluated for diagnosis and management. Treatment for acute disease is intravenous immunoglobulin and aspirin. If there is no response to treatment, patients are given a second dose of intravenous immunoglobulin with or without corticosteroids or other adjunctive treatments. The presence and severity of coronary aneurysms and obstruction at diagnosis determine treatment options and the need, periodicity, and intensity of long-term cardiovascular monitoring for potential atherosclerosis. PMID:25822554

  14. Molecular diagnosis of autoimmune blistering diseases.

    PubMed

    Tsuruta, Daisuke; Dainichi, Teruki; Hamada, Takahiro; Ishii, Norito; Hashimoto, Takashi

    2013-01-01

    Autoimmune bullous diseases are the best-characterized autoimmune skin diseases. Molecular diagnosis of these diseases has become possible due to the identification of their target autoantigens over the past three decades. In this review, we summarize methodology for categorizing autoimmune bullous diseases by means of combinations of direct and indirect immunofluorescence techniques using normal human skin sections, rat bladder sections and COS7 cells transfected with desmocollins 1-3 encoded vectors, enzyme-linked immunosorbent assays and immunoblotting with normal human epidermal extracts, dermal extracts, purified proteins from cell cultures and recombinant proteins. PMID:23325635

  15. Predicting the effects of dietary manipulation in chronic renal disease

    SciTech Connect

    El Nahas, A.M.; Brady, S.A.; Masters-Thomas, A.; Wilkinson, V.; Hilson, A.J.W.; Moorhead, J.F.

    1984-01-01

    It has been suggested that the progressive fall in renal function in some patients with CRF is due to hyperfusion of the remnant nephrons in response to the relatively high protein diet of modern life. The authors attempted to assess this and to see what was the shortest time in which any effect could be demonstrated. In the first phase, 39 patients with CRF had their renal function followed for 6 months on their normal diet and 6 months on a low-protein diet (LPD). The patients on LPD all showed an improvement in the rate of fall of renal function. This was marked in patients with mainly tubular disease, and poor in those with glomerular and vascular disease. In the second phase, 11 of these patients (and 1 other) were started on a high protein diet (HPD) for two weeks, and then switched back to a LPD for 2 weeks. There was no change in GFR during this period, but there were marked changes in ERPF, which correlated well with the changes in renal function in the first phase (r = 0.76, rho < 0.01); 4/4 patients with tubular disease showed a rise in ERPF on HPD and a fall on LPD, while only 4/8 with glomerular or vascular disease responded. In the third phase, they assessed the effect of a single high-protein meal in normal volunteers. This showed that there are major changes in hemodynamics following a meal, such that it is not possible to make any statement about renal function using the single-shot methods. The authors conclude that a 2-week period of HPD followed by LPD allows prediction of the possible beneficial response to diet in CRF; that this is best monitored by ERPF; and that a single meal may invalidate renal function measurement.

  16. Relationship of MTHFR gene polymorphisms with renal and cardiac disease

    PubMed Central

    Trovato, Francesca M; Catalano, Daniela; Ragusa, Angela; Martines, G Fabio; Pirri, Clara; Buccheri, Maria Antonietta; Di Nora, Concetta; Trovato, Guglielmo M

    2015-01-01

    AIM: To investigate the effects of different methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism and hyperhomocysteinemia for the development of renal failure and cardiovascular events, which are controversial. METHODS: We challenged the relationship, if any, of MTHFR 677C>T and MTHFR 1298A>C polymorphisms with renal and heart function. The present article is a reappraisal of these concepts, investigating within a larger population, and including a subgroup of dialysis patients, if the two most common MTHFR polymorphisms, C677T and A1298C, as homozygous, heterozygous or with a compound heterozygous state, show different association with chronic renal failure requiring hemodialysis. MTHFR polymorphism could be a favorable evolutionary factor, i.e., a protective factor for many ominous conditions, like cancer and renal failure. A similar finding was reported in fatty liver disease in which it is suggested that MTHFR polymorphisms could have maintained and maintain their persistence by an heterozygosis advantage mechanism. We studied a total of 630 Italian Caucasian subject aged 54.60 ± 16.35 years, addressing to the increased hazard of hemodialysis, if any, according to the studied MTHFR genetic polymorphisms. RESULTS: A favorable association with normal renal function of MTHFR polymorphisms, and notably of MTHFR C677T is present independently of the negative effects of left ventricular hypertrophy, increased Intra-Renal arterial Resistance and hyperparathyroidism. CONCLUSION: MTHFR gene polymorphisms could have a protective role on renal function as suggested by their lower frequency among our dialysis patients in end-stage renal failure; differently, the association with left ventricular hypertrophy and reduced left ventricular relaxation suggest some type of indirect, or concurrent mechanism. PMID:25664255

  17. A 44 year-old lady with chronic renal disease and intractable ulcers: a case report

    PubMed Central

    Pujar, Thejeswi; Spinello, Irene M

    2009-01-01

    Calciphylaxis is a rare but potentially fatal condition occurring in patients with end stage renal disease on dialysis. Due to interplay of various factors, disturbances occur in the metabolism of calcium and phosphate leading to calcification within the vessel walls. The net result is tissue ischemia and necrosis. Clinically this presents as painful non-healing skin ulcers, which contribute to significant morbidity and mortality due to septic progression of the lesion. In this case report, we highlight the rapidly progressive nature of this disease, its etiopathogenesis and the role of early diagnosis in preventing life-threatening complications. PMID:19646226

  18. Renal Lesions Associated with IgM-Secreting Monoclonal Proliferations: Revisiting the Disease Spectrum

    PubMed Central

    Audard, Vincent; Georges, Benoit; Vanhille, Philippe; Toly, Cécile; Deroure, Benjamin; Fakhouri, Fadi; Cuvelier, René; Belenfant, Xavier; Surin, Brigitte; Aucouturier, Pierre; Mougenot, Béatrice; Ronco, Pierre

    2008-01-01

    Background and objectives: Since the first description of pathology of the kidney in Waldenström disease in 1970, there have been few reports on kidney complications of IgM-secreting monoclonal proliferations. Here, we aimed to revisit the spectrum of renal lesions occurring in patients with a serum monoclonal IgM. Design, setting, participants, & measurements: Fourteen patients with a circulating monoclonal IgM and a kidney disease related to B cell proliferation were identified retrospectively. Demographic, clinical, and laboratory data were assessed for each patient at the time of kidney biopsy. Results: Seven patients had a nephrotic syndrome. Patients without nephrotic syndrome all had impaired renal function. Mean serum creatinine was 238 μmol/L. For five patients, the diagnosis of monoclonal IgM preceded the kidney disease by 28.8 mo (range 12 to 60). Seven patients had Waldenström disease, two had a small B cell non-Hodgkin lymphoma, one had an IgM-excreting multiple myeloma, one had a marginal zone B cell lymphoma, and three had an IgM-related disorder. Renal lesions included (1) intracapillary monoclonal deposits disease with granular, electron-dense IgM thrombi occluding capillary lumens (5); (2) atypical membranoproliferative glomerulonephritis (3); (3) λ light chain amyloidosis (2) associated with μ deposits in one patient; (4) acute tubular necrosis (1); and (5) CD20+ lymphomatous infiltration (3). Remission of the nephrotic syndrome was attained in three of seven patients, and renal function improved after chemotherapy. Conclusions: Although renal complications of IgM proliferations are rare, a wide spectrum of kidney lesions is observed, without correlation with the type of hematologic disorder. PMID:18632851

  19. Bilateral multiple cystic kidney disease and renal cortical abscess in a Boerboel.

    PubMed

    Kitshoff, A M; McClure, V; Lim, C K; Kirberger, R M

    2011-06-01

    Cystic renal disease is rare in dogs and although infected renal cysts have been reported in humans, no report could be found in dogs. A 58 kg, 5-year-old, castrated, male Boerboel presented with weight loss, pyrexia, lethargy and vomiting, 20 months after an incident of haematuria was reported. The initial ultrasonographic diagnosis was bilateral multiple renal cysts of unknown aetiology. The cysts had significantly increased in size over the 20-month period and some contained echogenic specks which could be related to infection, normal cellular debris or haemorrhage. In both kidneys the renal contours were distorted (the left more than the right). The abnormal shape of the left kidney was largely due to multiple cysts and a large crescent-shaped septate mass on the cranial pole of the kidney. Aspirates of the septate mass were performed (left kidney) and the cytology and culture were indicative of an abscess. It is suggested that the previous incident of haematuria provided a portal of entry for bacteria into the cysts resulting in renal cortical abscess formation. PMID:22135926

  20. [Diagnosis and therapy of mitochondrial diseases].

    PubMed

    Pál, Endre

    2012-07-30

    Mitochondrial diseases are a significant part of neuromuscular diseases. Majority of them is multisystemic disorder. The diagnosis can be established in more and more cases. Beyond the routine neurological examination imaging methods (MRI and MR-spectroscopy) and electrophysiology (EMG, ENG, EEG, evoked potential tests) might be helpful in setting the diagnosis. Raised blood lactate level supports the diagnosis. Muscle biopsy demonstrates mitochondrial abnormalities in the majority of cases. The positivity of genetic tests is low, because the amount of mitochondrial DNA alterations is different in tissues. Therefore other tissue than blood (mainly muscle) is necessary for genetic tests. The other reason is that the respiratory chain is under double -mitochondrial and nuclear - genetic control, and testing the nuclear genes are available only in selected laboratories. The treatment is limited, mainly symptomatic. PMID:23074842

  1. Distribution of hypertension and renal disease in Oregon.

    PubMed Central

    Morton, W E; Knudsen, J C; Porter, G A

    1975-01-01

    Expecting to find agreement between the geographic distribution of hypertension and renal disease, we developed regional mortality rates for 1950-72 and prevalence rates for a Selective Service cohort born in 1939-41 and examined during 1957-69. For this purpose the State's counties were grouped into eight geographically homogeneous regions. The general decline in hypertension mortality was most pronounced in Portland, Oregon's major urban center. However, the decline halted during 1968-72 in the southern Cascade region which has become an area of relatively higher risk within the State. During these 23 years nephritis mortality fell, kidney infection mortality was stable, and both syndromes showed peak mortality in other, different regions of the State. The geographic pattern of hypertension prevalence among the draftee cohort resembled the 1963-67 hypertension mortality pattern, but more recent morbidity data are needed to confirm the southern Cascade region's recent change to a high-risk area. Of 529 draftees with diagnosed hypertension, only 35 percent of the cases were previously known, only 7 percent has had any previous treatment, and only 7 percent were associated with known renal conditions. Among 521 registrants with a history of renal disorders, the prevalence of hypertension was increased for all categories of renal disease but was significantly high only for those with a history of glomerulonephritis. To date in Oregon we have found no evidence that renal disorders are major determinants of hypertension morbidity or mortality. PMID:803695

  2. Sodium intake, RAAS-blockade and progressive renal disease.

    PubMed

    de Borst, Martin H; Navis, Gerjan

    2016-05-01

    Pharmacological blockade of the renin-angiotensin-aldosterone system (RAAS) by angiotensin converting enzyme inhibitors or angiotensin receptor blockers is the current standard treatment to prevent progressive renal function loss in patients with chronic kidney disease. Yet in many patients the renal protective effect of RAAS-blockade is incomplete. Short-term clinical studies have demonstrated that dietary sodium restriction potentiates the antiproteinuric effect of RAAS-blockade. More recently, it was shown that this effect is accompanied by a lower risk of end-stage renal disease and adverse cardiovascular outcomes. The modulation of RAAS-blockade efficacy by sodium intake is likely multifactorial, and is mediated by effects of sodium on local tissue RAAS in kidney, vasculature and brain, and by effects on the immune system. Despite the evidence showing the beneficial effects of even a moderate sodium restriction (∼2.5g/d), it remains difficult to realize in clinical practice. In an analysis based on 24-h urinary sodium excretion data from more than 10,000 CKD patients and renal transplant recipients, we found that sodium intake in these patients is on average 3.8g/d, closely resembling the global general population (3.95g/d). Behavioral approaches including the use of online dietary coaching (ehealth) and feedback using data from 24-h urine collections may be useful to successfully lower dietary sodium intake, aiming to improve cardio-renal outcomes in patients with CKD. PMID:27041482

  3. The Fuzzy Model for Diagnosis of Animal Disease

    NASA Astrophysics Data System (ADS)

    Jianhua, Xiao; Luyi, Shi; Yu, Zhang; Li, Gao; Honggang, Fan; Haikun, Ma; Hongbin, Wang

    The knowledge of animal disease diagnosis was fuzzy; the fuzzy model can imitate the character of clinical diagnosis for veterinary. The fuzzy model of disease, the methods for class the disease group of differential diagnosis and the fuzzy diagnosis model were discussed in this paper.

  4. Molecular diagnosis of chronic granulomatous disease

    PubMed Central

    Roos, D; Boer, M

    2014-01-01

    Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia and Salmonella species. CGD is a rare (∼1:250 000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. Molecular diagnosis of CGD involves measuring NADPH oxidase activity in phagocytes, measuring protein expression of NADPH oxidase components and mutation analysis of genes encoding these components. Residual oxidase activity is important to know for estimation of the clinical course and the chance of survival of the patient. Mutation analysis is mandatory for genetic counselling and prenatal diagnosis. This review summarizes the different assays available for the diagnosis of CGD, the precautions to be taken for correct measurements, the flow diagram to be followed, the assays for confirmation of the diagnosis and the determinations for carrier detection and prenatal diagnosis. PMID:24016250

  5. Molecular diagnosis of chronic granulomatous disease.

    PubMed

    Roos, D; de Boer, M

    2014-02-01

    Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia and Salmonella species. CGD is a rare (∼1:250 000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. Molecular diagnosis of CGD involves measuring NADPH oxidase activity in phagocytes, measuring protein expression of NADPH oxidase components and mutation analysis of genes encoding these components. Residual oxidase activity is important to know for estimation of the clinical course and the chance of survival of the patient. Mutation analysis is mandatory for genetic counselling and prenatal diagnosis. This review summarizes the different assays available for the diagnosis of CGD, the precautions to be taken for correct measurements, the flow diagram to be followed, the assays for confirmation of the diagnosis and the determinations for carrier detection and prenatal diagnosis. PMID:24016250

  6. Diagnosis of rare inherited glyoxalate metabolic disorders through in-situ analysis of renal stones

    NASA Astrophysics Data System (ADS)

    Jacob, D. E.; Grohe, B.; Hoppe, B.; Beck, B. B.; Tessadri, R.

    2012-04-01

    The primary hyperoxalurias type I - III constitute rare autosomal-recessive inherited disorders of the human glyoxylate metabolism. By mechanisms that are ill understood progressive nephrocalcinosis and recurrent urolithiasis (kidney stone formation) often starting in early childhood, along with their secondary complications results in loss of nephron mass which progresses to end-stage renal failure over time. In the most frequent form, end-stage renal failure (ESRF) is the rule and combined liver/kidney transplantation respectively pre-emptive liver transplantation are the only causative treatment today. Hence, this contributes significantly to healthcare costs and early diagnosis is extremely important for a positive outcome for the patient. We are developing a stone-based diagnostic method by in-detail multi-methods investigation of the crystalline moiety in concert with urine and stone proteomics. Stone analysis will allow faster analysis at low-impact for the patients in the early stages of the disease. First results from combined spectroscopic (Raman, FTIR)and geochemical micro-analyses (Electron Microprobe and Laser Ablation ICP-MS) are presented here that show significant differences between stones from hyperoxaluria patients and those formed by patients without this disorder (idiopathic stones). Major differences exist in chemistry as well as in morphology and phase composition of the stones. Ca/P ratios and Mg contents differentiate between oxalate-stones from hyperoxaluria patients and idiopathic stones. Results show that also within the different subtypes of primary hyperoxaluria significant differences can be found in stone composition. These imply differences in stone formation which could be exploited for new therapeutic pathways. Furthermore, the results provide important feedback for suspected but yet unconfirmed cases of primary hyperoxaluria when used in concert with the genetic methods routinely applied.

  7. 77 FR 67449 - Medicare Program; End-Stage Renal Disease Prospective Payment System, Quality Incentive Program...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-09

    ...-Stage Renal Disease Bundled FDA Food and Drug Administration FI/MAC Fiscal Intermediary/Medicare..., 2010, we published in the Federal Register a final (75 FR 49030) titled, ``End-Stage Renal Disease... comment period (76 FR 18930) titled, ``Changes in the End-Stage Renal Disease Prospective Payment...

  8. Chronic beryllium disease: Diagnosis and management

    SciTech Connect

    Rossman, M.D.

    1996-10-01

    Chronic beryllium disease is predominantly a pulmonary granulomatosis that was originally described in 1946. Symptoms usually include dyspnea and cough. Fever, anorexia, and weight loss are common. Skin lesions are the most common extrathoracic manifestation. Granulomatous hepatitis, hypercalcemia, and kidney stones can also occur. Radiographic and physiologic abnormalities are similar to those in sarcoidosis. While traditionally the pathologic changes included granulomas and cellular interstitial changes, the hallmark of the disease today is the well-formed granuloma. Immunologic studies have demonstrated a cell-mediated response to beryllium that is due to an accumulation of CD4{sup +} T cells at the site of disease activity. Diagnosis depends on the demonstration of pathologic changes (i.e., granuloma) and evidence that the granuloma was caused by a hypersensitivity to beryllium (i.e., positive lung proliferative response to beryllium). Using these criteria, the diagnosis of chronic beryllium disease can now be made before the onset of clinical symptoms. Whether, with early diagnosis, the natural course of this condition will be the same as when it was traditionally diagnosed is not known. Currently, corticosteroids are used to treat patients with significant symptoms or evidence of progressive disease. 21 refs.

  9. Oligoarray comparative genomic hybridization of renal cell tumors that developed in patients with acquired cystic renal disease.

    PubMed

    Kuntz, Eva; Yusenko, Maria V; Nagy, Anetta; Kovacs, Gyula

    2010-09-01

    Renal cell carcinoma occurs at higher frequency in acquired cystic renal disease than in the general population. We have analyzed 4 tumors obtained from the kidneys of 2 patients with acquired cystic renal disease, including 2 conventional renal cell carcinomas and 2 acquired cystic renal disease-associated tumors, for genetic alterations. DNA changes were established by applying the 44K Agilent Oligonucleotide Array-Based CGH (Agilent Technologies, Waldbronn, Germany), and mutation of VHL gene was detected by direct sequencing of the tumor genome. DNA losses and mutation of the VHL gene, which are characteristic for conventional renal cell carcinomas, were seen in 2 of the tumors. The acquired cystic renal disease-associated eosinophilic-vacuolated cell tumor showed gain of chromosomes 3 and 16. No DNA alterations occurred in the papillary clear cell tumor. We suggest that not only the morphology but also the genetics of renal cell tumors associated with acquired cystic renal disease may differ from those occurring in the general population. PMID:20646738

  10. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  11. Serum antioxidant capacity in neurological, psychiatric, renal diseases and cardiomyopathy.

    PubMed

    Sofic, E; Rustembegovic, A; Kroyer, G; Cao, G

    2002-05-01

    The role of free radicals (FR) in the pathogenesis and in the progression of many diseases has been often discussed, but not widely investigated. However, the total antioxidant capacity in the serum seems to be of great evidence. Total antioxidant capacity was determined using oxygen absorbance capacity assay (ORAC) in serum of patients suffering from depression, schizophrenia, Alzheimer's disease (AD), anorexia nervosa, Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Aids-encephalopathy, diabetic polyneuropathy (PNP), cardiomyopathy (CM), renal disease, and healthy individuals as controls (C). The results showed that the total antioxidant capacity in serum decreased significantly (p < 0.01) by 24, 20, 13, and 17% for anorexia nervosa, Aids-encephalopathy, PNP and CM respectively. In serum of patients with renal disease significantly elevated antioxidant capacity was found. The data indicated that increased oxidative stress can be involved in the pathogenesis or in the progression of PNP and CM. Decrease of serum antioxidant capacity in patients with anorexia nervosa and Aids-encephalopathy are probably due primarily to malnutrition and secondly to insufficient antioxidant and immune system. In renal disease, the accumulation of urea in serum seems to be responsible for high antioxidant capacity. In contrast, there were no changes in PD, AD, depression syndrome and schizophrenia. PMID:12111462

  12. Unclassified Renal Cell Carcinoma With Medullary Phenotype Versus Renal Medullary Carcinoma: Lessons From Diagnosis in an Italian Man Found to Harbor Sickle Cell Trait

    PubMed Central

    Colombo, Piergiuseppe; Smith, Steven C.; Massa, Simona; Renne, Salvatore L.; Brambilla, Simona; Peschechera, Roberto; Graziotti, Pierpaolo; Roncalli, Massimo; Amin, Mahul B.

    2015-01-01

    Medullary carcinoma is a rare malignant tumor of the kidney. It affects individuals of African descent and all cases reported show evidence of sickle cell trait. We reviewed an unusual carcinoma arising in a white man, the ninth in the literature. The tumor demonstrated features associated with renal medullary carcinoma, or unclassified renal cell carcinoma, medullary phenotype as recently described; the presence of sickle cell trait confirmed the diagnosis of medullary carcinoma. This case is helpful in the differential diagnosis with non-sickle cell associated “renal cell carcinoma, unclassified with medullary phenotype,” and study of this spectrum of tumors is ongoing. PMID:26793557

  13. Diagnosis and management of Lyme disease.

    PubMed

    Wright, William F; Riedel, David J; Talwani, Rohit; Gilliam, Bruce L

    2012-06-01

    Lyme disease, caused by the bacterium Borrelia burgdorferi, is the most common tick-borne illness in the United States. Transmission occurs primarily through the bite of an infected deer tick (Ixodes scapularis). Identification of an erythema migrans rash following a tick bite is the only clinical manifestation sufficient to make the diagnosis of Lyme disease in the absence of laboratory confirmation. The Centers for Disease Control and Prevention recommends a two-tier serologic testing protocol using an enzyme-linked immunosorbent assay initially, followed by the more specific Western blot to confirm the diagnosis when the assay samples are positive or equivocal. The treatment of Lyme disease is determined mainly by the clinical manifestations of the disease. Doxycycline is often the preferred agent for oral treatment because of its activity against other tick-borne illnesses. Preventive measures include avoiding areas with high tick burdens, wearing protective clothing, using tick repellants (e.g., diethyltoluamide [DEET]), performing frequent body checks and bathing following outdoor activities, and instituting environmental landscape modifications (e.g., grass mowing, deer exclusion fencing) to reduce the tick burden. Although there is controversy regarding treatment of post-Lyme disease syndrome and chronic Lyme disease, there is no biologic or clinical trial evidence indicating that prolonged antibiotic therapy is of benefit. PMID:22962880

  14. Association Between the Use of Proton Pump Inhibitors and the Risk of ESRD in Renal Diseases: A Population-Based, Case-Control Study

    PubMed Central

    Peng, Yen-Chun; Lin, Cheng-Li; Yeh, Hong-Zen; Chang, Chi-Sen; Wu, Yu-Lin; Kao, Chia-Hung

    2016-01-01

    Abstract Proton pump inhibitors (PPIs) use may be associated with nephritis and acute renal injury. The risk of PPIs and deterioration of renal function, in patients with renal diseases, needs to be investigated. A case-control study was conducted in a nation-wide data setting from the Taiwan National Health Insurance Research Database (NHIRD). This case-control study used data extracted from NHIRD between the years 2006 and 2011. We used propensity scores to match 3808 patients suffering from renal diseases (ICD-9-CM codes 580–589), with patients (aged ≥20 years) who had had a recent diagnosis of end-stage renal diseases (ESRDs) and had undertaken renal replacement therapy during the period of 2006 to 2011. The 3808 control subjects were selected from people who had a history of renal diseases, but no ESRD. The risk of ESRD in patients with renal diseases and PPIs use was estimated by using odds ratios (ORs) and 95% confidence intervals (CI). The use of a PPIs was associated with a significantly higher risk of ESRD (adjusted OR = 1.88, 95% CI = 1.71–2.06) in renal disease patients. Of all the types of PPI combined, the adjusted OR was 1.92 (95% CI = 1.74–2.13) for those on <100 cumulative DDD and was 1.74-fold (95% CI = 1.52–2.00) for those on ≥100 cumulative DDD. PPIs use is associated with the risk of ESRD in patients with renal diseases. It is necessary that appropriate prescription of PPIs coordinated with the close monitoring renal function of patients diagnosed with renal disease. PMID:27082596

  15. [The diagnosis of diseases due to occupation].

    PubMed

    Romano, C; Giachino, G M; Pira, E

    2010-01-01

    Occupational diseases are essentially defined by aetiological characteristics, and not by nosological characteristics, because the latter in most cases are not specific. This is particularly so for "work-related" diseases but still stays true for most "occupational" diseases. This implies that the diagnostic path for occupational diseases must include one additional step as compared to the standard procedure typical of non occupational medicine. The last is satisfactory after a suitable history and clinical-instrumental phase and thus a nosological definition are completed. The former includes an additional mandatory third phase, the one defining a reliable causal relationship taking into account a reasonable relationship between, on one side, the qualitative, quantitative and temporal aspects of the specific risk, and, on the other side, the observed "effect". These items must be systematically looked for (unless they are practically unobtainable) if a correct diagnosis of an occupational disease has to be reached. PMID:21438312

  16. Advances in the Urinary Exosomes in Renal Diseases.

    PubMed

    Chen, Pei-Pei; Qin, Yan; Li, Xue-Mei

    2016-08-01

    Cells secrete around 30-100 nm membrane-enclosed vesicles that are released into the extracellular spaceis termed exosomes(EXs). EXs widely present in body fluids and incorporated proteins,nucleic acids that reflect the physiological state of their cells of origin and they may play an important role in cell-to-cell communication in various physiological and disease processes. In this article we review the recent basic and clinical studies in urinary EXs in renal diseases,focusing on their biological characteristics and potential roles as new biological markers,intervention treatment goals,and targeted therapy vectors in renal diseases.However,some issues still exist;in particular,the clinical application of EXs as a liquid biopsy technique warrants further investigations. PMID:27594162

  17. Prognostic Indicators of Cardiovascular Risk in Renal Disease

    PubMed Central

    Hildreth, Cara M.

    2011-01-01

    Although the annual mortality rate for end-stage renal disease (ESRD) is decreasing, likely due to an increase in kidney transplantation rate, the survival probability for ESRD patients from day one of dialysis has not changed, and is still poor with a 5-year survival rate of approximately 34%. This is contributed to by a high prevalence of cardiovascular disease, which is the leading cause of death in ESRD patients. In order to improve survival outcomes, patients at high risk of cardiovascular related mortality need to be identified. Heart rate variability (HRV), baroreceptor sensitivity, and baroreceptor reflex effectiveness index can be used to assess heart rate control and may predict cardiovascular mortality. This paper will discuss how HRV, baroreceptor sensitivity, and baroreceptor reflex effectiveness index are altered in renal disease and the utility of these indices as markers of cardiac risk in this patient population. PMID:22294981

  18. Nutrition and renal stone disease in space

    NASA Technical Reports Server (NTRS)

    Zerwekh, Joseph E.

    2002-01-01

    There is a growing body of evidence from the National Aeronautics and Space Administration and the Russian space program showing that humans exposed to the microgravity environment of space have a greater risk for developing renal stones. Increased bone resorption and the attendant hypercalciuria and hyperphosphaturia contribute significantly to raising the urinary state of saturation with respect to the calcium salts, namely calcium oxalate and calcium phosphate. In addition, other environmental and dietary factors may adversely affect urine composition and increase stone formation risk during space flight. For example, reductions in urinary volume, pH, and citrate contribute to raising stone formation risk. In addition to raising the risk for calcium stone formation, this metabolic profile is conducive to the formation of uric acid stones. Although observations to date have suggested that there may actually be a reduced food intake during the early phase of flight, crew members on longer-duration flights may increase food intake and be at increased risk for stone formation. Taken together, these findings support the use of nutritional recommendations for crew members that would serve to reduce the stone-forming propensity of the urinary environment. Pharmacologic intervention should be directed at raising urinary volumes, diminishing bone losses, and preventing reductions in urinary pH and citrate. Success in reducing the risk for stone formation in astronauts would also be of potential major benefit to the estimated 20 million Americans with nephrolithiasis.

  19. Nutrition and renal stone disease in space.

    PubMed

    Zerwekh, Joseph E

    2002-10-01

    There is a growing body of evidence from the National Aeronautics and Space Administration and the Russian space program showing that humans exposed to the microgravity environment of space have a greater risk for developing renal stones. Increased bone resorption and the attendant hypercalciuria and hyperphosphaturia contribute significantly to raising the urinary state of saturation with respect to the calcium salts, namely calcium oxalate and calcium phosphate. In addition, other environmental and dietary factors may adversely affect urine composition and increase stone formation risk during space flight. For example, reductions in urinary volume, pH, and citrate contribute to raising stone formation risk. In addition to raising the risk for calcium stone formation, this metabolic profile is conducive to the formation of uric acid stones. Although observations to date have suggested that there may actually be a reduced food intake during the early phase of flight, crew members on longer-duration flights may increase food intake and be at increased risk for stone formation. Taken together, these findings support the use of nutritional recommendations for crew members that would serve to reduce the stone-forming propensity of the urinary environment. Pharmacologic intervention should be directed at raising urinary volumes, diminishing bone losses, and preventing reductions in urinary pH and citrate. Success in reducing the risk for stone formation in astronauts would also be of potential major benefit to the estimated 20 million Americans with nephrolithiasis. PMID:12361779

  20. Chronic renal failure and periodontal disease.

    PubMed

    Kitsou, V K; Konstantinidis, A; Siamopoulos, K C

    2000-05-01

    In order to define the effects of chronic renal failure (CRF) in the progress of gingival inflammation, we studied 6 patients (4 male, 2 female) with CRF who were on chronic hemodialysis for 4.25 (range 1-15) years. Six healthy individuals, age and sex matched were used as controls. The protocol which we used comprised of two periods (a) a 40-day duration period of preparation and (b) a 28-day duration experimental period. During the (a) period, all subjects went through: (1) therapy of the chronic gingivitis and (2) complete control of dental plaque by oral hygiene. During the experimental period, all subjects were advised to avoid, for at least 21 days, any mechanical or chemical media of oral hygiene and went through photographing, recording of gingival index (GI), recording of plaque index (PII), and the collection and quantification of gingival crevicular fluid (GCF). On the 21st day, root planning and polishing were performed and subjects were advised to carry out oral hygiene. On the 28th day, all previous examinations (GI, PII, GCF) were repeated. In both patients and controls, GI, PII and GCF were increased on 7th, 14th and 21st day, without significant differences between the groups and returned to normal (close to zero point) on the 28th day. There are no significant differences between patients with CRF and normal controls in the evolution of experimental gingivitis. Therefore, chronic uremia has no effect on the defense of periodontal tissue against microbial plaque. PMID:10843241

  1. Diabetic nephropathy: mechanisms of renal disease progression.

    PubMed

    Kanwar, Yashpal S; Wada, Jun; Sun, Lin; Xie, Ping; Wallner, Elisabeth I; Chen, Sheldon; Chugh, Sumant; Danesh, Farhad R

    2008-01-01

    Diabetic nephropathy is characterized by excessive amassing of extracellular matrix (ECM) with thickening of glomerular and tubular basement membranes and increased amount of mesangial matrix, which ultimately progress to glomerulosclerosis and tubulo-interstitial fibrosis. In view of this outcome, it would mean that all the kidney cellular elements, i.e., glomerular endothelia, mesangial cells, podocytes, and tubular epithelia, are targets of hyperglycemic injury. Conceivably, high glucose activates various pathways via similar mechanisms in different cell types of the kidney except for minor exceptions that are related to the selective expression of a given molecule in a particular renal compartment. To begin with, there is an obligatory excessive channeling of glucose intermediaries into various metabolic pathways with generation of advanced glycation products (AGEs), activation of protein kinase C (PKC), increased expression of transforming growth factor-beta (TGF-beta), GTP-binding proteins, and generation of reactive oxygen species (ROS). The ROS seem to be the common denominator in various pathways and are central to the pathogenesis of hyperglycemic injury. In addition, there are marked alterations in intraglomerular hemodynamics, i.e., hyperfiltration, and this along with metabolic derangements adversely compounds the hyperglycemia-induced injury. Here, the information compiled under various subtitles of this article is derived from an enormous amount of data summarized in several excellent literature reviews, and thus their further reading is suggested to gain in-depth knowledge of each of the subject matter. PMID:18156300

  2. Lipoprotein X Causes Renal Disease in LCAT Deficiency

    PubMed Central

    Thacker, Seth G.; Vaisman, Boris; Pryor, Milton; Freeman, Lita A.; Brantner, Christine A.; Baranova, Irina; Francone, Nicolás O.; Demosky, Stephen J.; Vitali, Cecilia; Locatelli, Monica; Abbate, Mauro; Zoja, Carlamaria; Franceschini, Guido; Calabresi, Laura; Remaley, Alan T.

    2016-01-01

    Human familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by low HDL, accumulation of an abnormal cholesterol-rich multilamellar particle called lipoprotein-X (LpX) in plasma, and renal disease. The aim of our study was to determine if LpX is nephrotoxic and to gain insight into the pathogenesis of FLD renal disease. We administered a synthetic LpX, nearly identical to endogenous LpX in its physical, chemical and biologic characteristics, to wild-type and Lcat-/- mice. Our in vitro and in vivo studies demonstrated an apoA-I and LCAT-dependent pathway for LpX conversion to HDL-like particles, which likely mediates normal plasma clearance of LpX. Plasma clearance of exogenous LpX was markedly delayed in Lcat-/- mice, which have low HDL, but only minimal amounts of endogenous LpX and do not spontaneously develop renal disease. Chronically administered exogenous LpX deposited in all renal glomerular cellular and matrical compartments of Lcat-/- mice, and induced proteinuria and nephrotoxic gene changes, as well as all of the hallmarks of FLD renal disease as assessed by histological, TEM, and SEM analyses. Extensive in vivo EM studies revealed LpX uptake by macropinocytosis into mouse glomerular endothelial cells, podocytes, and mesangial cells and delivery to lysosomes where it was degraded. Endocytosed LpX appeared to be degraded by both human podocyte and mesangial cell lysosomal PLA2 and induced podocyte secretion of pro-inflammatory IL-6 in vitro and renal Cxl10 expression in Lcat-/- mice. In conclusion, LpX is a nephrotoxic particle that in the absence of Lcat induces all of the histological and functional hallmarks of FLD and hence may serve as a biomarker for monitoring recombinant LCAT therapy. In addition, our studies suggest that LpX-induced loss of endothelial barrier function and release of cytokines by renal glomerular cells likely plays a role in the initiation and progression of FLD nephrosis. PMID:26919698

  3. Lipoprotein X Causes Renal Disease in LCAT Deficiency.

    PubMed

    Ossoli, Alice; Neufeld, Edward B; Thacker, Seth G; Vaisman, Boris; Pryor, Milton; Freeman, Lita A; Brantner, Christine A; Baranova, Irina; Francone, Nicolás O; Demosky, Stephen J; Vitali, Cecilia; Locatelli, Monica; Abbate, Mauro; Zoja, Carlamaria; Franceschini, Guido; Calabresi, Laura; Remaley, Alan T

    2016-01-01

    Human familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by low HDL, accumulation of an abnormal cholesterol-rich multilamellar particle called lipoprotein-X (LpX) in plasma, and renal disease. The aim of our study was to determine if LpX is nephrotoxic and to gain insight into the pathogenesis of FLD renal disease. We administered a synthetic LpX, nearly identical to endogenous LpX in its physical, chemical and biologic characteristics, to wild-type and Lcat-/- mice. Our in vitro and in vivo studies demonstrated an apoA-I and LCAT-dependent pathway for LpX conversion to HDL-like particles, which likely mediates normal plasma clearance of LpX. Plasma clearance of exogenous LpX was markedly delayed in Lcat-/- mice, which have low HDL, but only minimal amounts of endogenous LpX and do not spontaneously develop renal disease. Chronically administered exogenous LpX deposited in all renal glomerular cellular and matrical compartments of Lcat-/- mice, and induced proteinuria and nephrotoxic gene changes, as well as all of the hallmarks of FLD renal disease as assessed by histological, TEM, and SEM analyses. Extensive in vivo EM studies revealed LpX uptake by macropinocytosis into mouse glomerular endothelial cells, podocytes, and mesangial cells and delivery to lysosomes where it was degraded. Endocytosed LpX appeared to be degraded by both human podocyte and mesangial cell lysosomal PLA2 and induced podocyte secretion of pro-inflammatory IL-6 in vitro and renal Cxl10 expression in Lcat-/- mice. In conclusion, LpX is a nephrotoxic particle that in the absence of Lcat induces all of the histological and functional hallmarks of FLD and hence may serve as a biomarker for monitoring recombinant LCAT therapy. In addition, our studies suggest that LpX-induced loss of endothelial barrier function and release of cytokines by renal glomerular cells likely plays a role in the initiation and progression of FLD nephrosis. PMID:26919698

  4. Early Renal Abnormalities in Autosomal Dominant Polycystic Kidney Disease

    PubMed Central

    Meijer, Esther; Rook, Mieneke; Tent, Hilde; Navis, Gerjan; van der Jagt, Eric J.; de Jong, Paul E.

    2010-01-01

    Background and objectives: Potential therapeutic interventions are being developed for autosomal dominant polycystic kidney disease (ADPKD). A pivotal question will be when to initiate such treatment, and monitoring disease progression will thus become more important. Therefore, the prevalence of renal abnormalities in ADPKD at different ages was evaluated. Design, setting, participants, & measurements: Included were 103 prevalent ADPKD patients (Ravine criteria). Measured were mean arterial pressure (MAP), total renal volume (TRV), GFR, effective renal plasma flow (ERPF), renal vascular resistance (RVR), and filtration fraction (FF). Twenty-four-hour urine was collected. ADPKD patients were compared with age- and gender-matched healthy controls. Results: Patients and controls were subdivided into quartiles of age (median ages 28, 37, 42, and 52 years). Patients in the first quartile of age had almost the same GFR when compared with controls, but already a markedly decreased ERPF and an increased FF (GFR 117 ± 32 versus 129 ± 17 ml/min, ERPF 374 ± 119 versus 527 ± 83 ml/min, FF 32% ± 4% versus 25% ± 2%, and RVR 12 (10 to 16) versus 8 (7 to 8) dynes/cm2, respectively). Young adult ADPKD patients also had higher 24-hour urinary volumes, lower 24-hour urinary osmolarity, and higher urinary albumin excretion (UAE) than healthy controls, although TRV in these young adult patients was modestly enlarged (median 1.0 L). Conclusions: Already at young adult age, ADPKD patients have marked renal abnormalities, including a decreased ERPF and increased FF and UAE, despite modestly enlarged TRV and near-normal GFR. ERPF, FF, and UAE may thus be better markers for disease severity than GFR. PMID:20413443

  5. [Randall-type monoclonal immunoglobulin deposition disease: From diagnosis to treatment].

    PubMed

    Cohen, Camille; Javaugue, Vincent; Joly, Florent; Arnulf, Bertrand; Fermand, Jean-Paul; Jaccard, Arnaud; Sirac, Christophe; Knebelmann, Bertrand; Bridoux, Frank; Touchard, Guy

    2016-06-01

    Monoclonal immunoglobulin (Ig) deposition disease (MIDD) is a rare complication of plasma cell disorders, defined by linear Congo red-negative deposits of monoclonal light chain (LCDD), heavy chain (HCDD) or both (LHCDD) along basement membranes. MIDD should be suspected in patients presenting with glomerular proteinuria and monoclonal gammopathy, but none of these criteria is necessary for the diagnosis although renal involvement is prominent. Since an abnormal serum κ/λ ratio is found in virtually all MIDD patients, including those with HCDD, serum free light chain assay should be included in the initial workup in patients older than 50 presenting with kidney disease. Bortezomib-based regimens are efficient and well tolerated, resulting in improvement in both renal and global survival, comparatively to historical series. High dose melphalan with autologous stem cell transplantation may be proposed as second line therapy in selected patients. The achievement of hematological response, based on the difference between involved and uninvolved serum free light chains (dFLC), is mandatory. In a recent series, post-treatment dFLC<40mg/L was the major predictive factor of renal response and was associated with improvement of both renal and global survival. In MIDD, bortezomib-based therapy is safe and efficient when introduced early after diagnosis. dFLC response is a favorable prognostic factor for renal survival. PMID:27117766

  6. Early neuroimaging diagnosis of Alzheimer's disease

    NASA Astrophysics Data System (ADS)

    Jiao, Jianling; Liu, Timon C.; Li, Yan; Liu, Songhao

    2002-04-01

    Neuroimaging has played an important role in evaluating the Alzheimer's disease (AD) patients, and its uses are growing. Magnetic resonance imaging (MRI) may show the presence of cerebral infarcts and white matter disease. Single photon emission computed tomography (SPECT) and positron emission tomography (PET), which visualize such cerebral functions as glucose metabolism and blood flow, may provide positive evidence to support the diagnosis of AD. Electrical impedance tomography (EIT) is a recently developed technique which enables the internal impedance of an object to be imaged noninvasively.

  7. Idiopathic Parkinson's disease: epidemiology, diagnosis and management.

    PubMed Central

    Ben-Shlomo, Y; Sieradzan, K

    1995-01-01

    Since the introduction of levodopa therapy for idiopathic Parkinson's disease over 20 years ago, there has been an awakening of research interest in this chronic neuro-degenerative disorder. This paper describes current understanding of the role of genetic and environmental factors in the aetiology of idiopathic Parkinson's disease and problems associated with both diagnosis and management. It briefly outlines both pharmacological and non-pharmacological options for treatment. Despite an increasing armoury of available treatments, the optimum management for this condition remains controversial. PMID:7619574

  8. Inflammatory Cutaneous Diseases in Renal Transplant Recipients

    PubMed Central

    Savoia, Paola; Cavaliere, Giovanni; Zavattaro, Elisa; Veronese, Federica; Fava, Paolo

    2016-01-01

    Kidney transplant recipients frequently suffer from skin infections and malignancies, possibly due to the effects of long-term immunosuppressive therapy. While the relationships between immunosuppression and these pathological conditions have been widely investigated, little is known about the relative incidence and characteristics of inflammatory skin diseases in this type of patient. In this study, we analyze the incidence of a number of inflammatory cutaneous diseases in a cohort of patients who underwent kidney transplantation. Although our study shows a relatively low incidence of these pathologies in transplanted patients—in agreement with the general action of immunosuppressant therapies in reducing inflammation—we scored a different efficacy of the various immunosuppressive regimens on inflammatory and autoimmune skin diseases. This information can be key for designing immunosuppressive regimens and devising accurate follow-up protocols. PMID:27548160

  9. Systemic and renal lipids in kidney disease development and progression.

    PubMed

    Wahl, Patricia; Ducasa, Gloria Michelle; Fornoni, Alessia

    2016-03-15

    Altered lipid metabolism characterizes proteinuria and chronic kidney diseases. While it is thought that dyslipidemia is a consequence of kidney disease, a large body of clinical and experimental studies support that altered lipid metabolism may contribute to the pathogenesis and progression of kidney disease. In fact, accumulation of renal lipids has been observed in several conditions of genetic and nongenetic origins, linking local fat to the pathogenesis of kidney disease. Statins, which target cholesterol synthesis, have not been proven beneficial to slow the progression of chronic kidney disease. Therefore, other therapeutic strategies to reduce cholesterol accumulation in peripheral organs, such as the kidney, warrant further investigation. Recent advances in the understanding of the biology of high-density lipoprotein (HDL) have revealed that functional HDL, rather than total HDL per se, may protect from both cardiovascular and kidney diseases, strongly supporting a role for altered cholesterol efflux in the pathogenesis of kidney disease. Although the underlying pathophysiological mechanisms responsible for lipid-induced renal damage have yet to be uncovered, several studies suggest novel mechanisms by which cholesterol, free fatty acids, and sphingolipids may affect glomerular and tubular cell function. This review will focus on the clinical and experimental evidence supporting a causative role of lipids in the pathogenesis of proteinuria and kidney disease, with a primary focus on podocytes. PMID:26697982

  10. Accurate diagnosis of renal transplant rejection by indium-111 platelet imaging despite postoperative cyclosporin therapy

    SciTech Connect

    Collier, B.D.; Adams, M.B.; Kauffman, H.M.; Trembath, L.; Hoffmann, R.G.; Tisdale, P.L.; Rao, S.A.; Hellman, R.S.; Isitman, A.T.

    1988-08-01

    Previous reports indicate that In-111 platelet scintigraphy (IPS) is a reliable test for the early diagnosis of acute post-operative renal transplant rejection (TR). However, the recent introduction of cyclosporin for post-transplantation immunosuppression requires that the diagnostic efficacy of IPS once again be established. Therefore, a prospective IPS study of 73 post-operative renal transplant recipients was conducted. Fourty-nine patients received cyclosporin and 24 patients did not receive this drug. Between these two patient groups, there were no significant differences in the diagnostic sensitivities (0.86 vs 0.80) and specificities (0.93 vs 0.84) with which TR was identified. We conclude that during the first two weeks following renal transplantation the cyclosporin treatment regimen used at our institution does not limit the reliability of IPS as a test for TR.

  11. System for renal movement elimination and renal diagnosis supported by vague knowledge

    NASA Astrophysics Data System (ADS)

    Martin, Jens; Hiltner, Jens; Fathi, Madjid; Reusch, Bernd; Stattaus, Joerg; Hacklaender, Thomas

    2000-06-01

    For the analysis of renal function, sequences of 90 magnet resonance images of the abdominal region showing both kidneys are taken in intervals of two seconds after a contrast medium was applied. Respiration of the patients during the acquisition of the images leads to organ movements throughout the series. These displacements are corrected by using an extended cepstral technique. To minimize registration errors caused by inhomogeneous movements of organs and tissues during respiration, the cepstrum-relevant part of the images is limited to small regions of interest around both kidneys. Even organ movements of sub-pixel range can be detected. After correction, the kidneys are the same position throughout the sequence. The regions of interest marked in one image are projected to all other images. To archive diagnostic results, dynamic contrast medium evaluations for different tissues of the kidneys are computed with signal-intensity-time graphs. Using a-priori knowledge about parameters of the SIT-graph for a whole kidney and about organ shape and structure, pixels of the kidney-segment are divided into the three classes renal cortex, medulla and pelvis. As a result, precise graphs can be computed for each tissue. The evaluation of the system is in progress, time save is more than one hour per patient.

  12. Alzheimer's disease: early diagnosis and treatment.

    PubMed

    Chu, L W

    2012-06-01

    With ageing of populations, the worldwide population of persons with dementia will reach over 81 million by 2040, of which the most common cause is Alzheimer's disease. In recent years, there have been major advances in the understanding of its pathogenesis, methods to diagnose it, and treatment. Magnetic resonance brain imaging, cerebrospinal fluid biomarkers, and Pittsburgh compound B and fluorodeoxyglucose positron emission tomography of the brain can facilitate an accurate diagnosis of Alzheimer's disease in its early stage, and diagnose the mild cognitive impairment stage of Alzheimer's disease. At present, only symptomatic but not disease-modifying drug treatments are available. Donepezil, rivastigmine and galantamine are the currently approved cholinesterase inhibitors for the treatment of mild, moderate, and severe Alzheimer's disease. Overall, cholinesterase inhibitors show beneficial effects on cognition, activity of daily living, behaviour, and overall clinical rating. Memantine is another symptomatic treatment for moderate-to-severe Alzheimer's disease patients. It has a small beneficial effect on cognition, activity of daily living, behaviour, and overall clinical rating. Vitamin E has antioxidant properties, and may be used in some Alzheimer's disease patients without vascular risk factors. Concurrent non-pharmacological and psychosocial management of patients and their caregivers have a very important role. Disease-modifying therapies are still under development, whilst immunotherapy may be a viable option in the near future. PMID:22665688

  13. Diagnosis of Periodontal Diseases by Biomarkers

    NASA Astrophysics Data System (ADS)

    Kido, Jun-Ichi; Hino, Mami; Bando, Mika; Hiroshima, Yuka

    Many middle aged and old persons take periodontal diseases that mainly cause teeth loss and result in some systemic diseases. The prevention of periodontal diseases is very important for oral and systemic health, but the present diagnostic examination is not fully objective and suitable. To diagnose periodontal diseases exactly, some biomarkers shown inflammation, tissue degradation and bone resorption, in gingival crevicular fluid (GCF) and saliva are known. We demonstrated that GCF levels of calprotectin, inflammation-related protein, and carboxy-terminal propeptide of type I procollagen, bone metabolism-related protein, were associated with clinical condition of periodontal diseases, and suggested that these proteins may be useful biomarkers for periodontal diseases. Recently, determinations of genes and proteins by using microdevices are studied for diagnosis of some diseases. We detected calprotectin protein by chemiluminescent immunoassay on a microchip and showed the possibility of specific and quantitative detection of calprotectin in a very small amount of GCF. To determine plural markers in GCF by using microdevices contributes to develop accurate, objective diagnostic system of periodontal diseases.

  14. Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease

    PubMed Central

    Mcinnes, Andrew D.; DeGroote, Richard J.

    2014-01-01

    A previously healthy, white 12-year-old girl presented with diffuse body aches and poor perfusion. She developed severe respiratory failure and marked rhabdomyolysis and was mechanically ventilated. Although her CPK peaked at 500,000 IU/L, her renal function was mildly affected and her creatinine did not exceed the 0.8 mg/dL. The rhabdomyolysis was gradually resolved following aggressive fluid hydration. The patient did not require dialysis and made a complete recovery. Genetic studies revealed the diagnosis of McArdle disease. PMID:25371840

  15. Novel Methodology to Evaluate Renal Cysts in Polycystic Kidney Disease

    PubMed Central

    Bae, Kyongtae T; Sun, Hongliang; Lee, June Goo; Bae, Kyungsoo; Wang, Jinhong; Tao, Cheng; Chapman, Arlene B; Torres, Vicente E; Grantham, Jared J; Mrug, Michal; Bennett, William M; Flessner, Michael F; Landsittel, Doug P

    2014-01-01

    Objective To develop and assess a semi-automated method for segmenting and counting individual renal cysts from mid-slice MR images in patients with autosomal dominant polycystic kidney disease (ADPKD) Materials and Methods A semi-automated method was developed to segment and count individual renal cysts from mid-slice MR images in 241 participants with ADPKD from the Consortium for Radiologic Imaging Studies of ADPKD (CRISP). For each subject, a mid-slice MR image was selected from each set of coronal T2-weighted MR images covering the entire kidney. The selected mid-slice image was processed with the semi-automated method to segment and count individual renal cysts. The number of cysts from the mid-slice image of each kidney was also measured by manual counting. The level of agreement between the semi-automated and manual cyst counts was compared using intra-class correlation (ICC) and a Bland-Altman plot. Results Individual renal cysts were successfully segmented using the semi-automated method in all 241 cases. The number of cysts in each kidney measured with the semi-automated and manual counting methods correlated well (ICC=0.96 for the right or left kidney), with a small average difference (-0.52, with higher semi-automated counts, for the right and 0.13, with higher manual counts, for the left) in the semi-automated method. There was, however, substantial variation in a small number of subjects: 6 of 241 (2.5%) participants had a difference in the total cyst count of more than 15. Conclusion We have developed a semi-automated method to segment individual renal cysts from mid-slice of MR images in ADPKD kidneys for a quantitative indicator of characterization and disease progression of ADPKD. PMID:24576800

  16. The Economic Burden of Chronic Kidney Disease and End-Stage Renal Disease.

    PubMed

    Wang, Virginia; Vilme, Helene; Maciejewski, Matthew L; Boulware, L Ebony

    2016-07-01

    The growing prevalence and progression of chronic kidney disease (CKD) raises concerns about our capacity to manage its economic burden to patients, caregivers, and society. The societal direct and indirect costs of CKD and end-stage renal disease are substantial and increase throughout disease progression. There is significant variability in the evidence about direct and indirect costs attributable to CKD and end-stage renal disease, with the most complete evidence concentrated on direct health care costs of patients with advanced to end-stage CKD. There are substantial gaps in evidence that need to be filled to inform clinical practice and policy. PMID:27475662

  17. World Small Animal Veterinary Association Renal Pathology Initiative: Classification of Glomerular Diseases in Dogs.

    PubMed

    Cianciolo, R E; Mohr, F C; Aresu, L; Brown, C A; James, C; Jansen, J H; Spangler, W L; van der Lugt, J J; Kass, P H; Brovida, C; Cowgill, L D; Heiene, R; Polzin, D J; Syme, H; Vaden, S L; van Dongen, A M; Lees, G E

    2016-01-01

    Evaluation of canine renal biopsy tissue has generally relied on light microscopic (LM) evaluation of hematoxylin and eosin-stained sections ranging in thickness from 3 to 5 µm. Advanced modalities, such as transmission electron microscopy (TEM) and immunofluorescence (IF), have been used sporadically or retrospectively. Diagnostic algorithms of glomerular diseases have been extrapolated from the World Health Organization classification scheme for human glomerular disease. With the recent establishment of 2 veterinary nephropathology services that evaluate 3-µm sections with a panel of histochemical stains and routinely perform TEM and IF, a standardized objective species-specific approach for the diagnosis of canine glomerular disease was needed. Eight veterinary pathologists evaluated 114 parameters (lesions) in renal biopsy specimens from 89 dogs. Hierarchical cluster analysis of the data revealed 2 large categories of glomerular disease based on the presence or absence of immune complex deposition: The immune complex-mediated glomerulonephritis (ICGN) category included cases with histologic lesions of membranoproliferative or membranous patterns. The second category included control dogs and dogs with non-ICGN (glomerular amyloidosis or focal segmental glomerulosclerosis). Cluster analysis performed on only the LM parameters led to misdiagnosis of 22 of the 89 cases-that is, ICGN cases moved to the non-ICGN branch of the dendrogram or vice versa, thereby emphasizing the importance of advanced diagnostic modalities in the evaluation of canine glomerular disease. Salient LM, TEM, and IF features for each pattern of disease were identified, and a preliminary investigation of related clinicopathologic data was performed. PMID:25957358

  18. Selected tumor markers in the routine diagnosis of chromophobe renal cell carcinoma.

    PubMed

    Badowska-Kozakiewicz, Anna M; Budzik, Michał P; Koczkodaj, Paweł; Przybylski, Jacek

    2016-08-01

    Renal cell carcinoma is one of the most malignant tumors, affecting men more frequently than women and constituting nearly 90% of all kidney tumors. Chromophobe renal cell carcinoma has been described as a new histological type of renal cell carcinoma. Chromophobe renal cell carcinoma constitutes up to 5% of all cases of kidney cancer. It is characterized by a significant number of deletions in many chromosomes, as well as the loss of entire chromosomes. Chromophobe renal cell carcinoma arises from tubular cells or cells of the macula densa. In contrast to other types of kidney cancer, it occurs with equal frequency in men and women, mostly in the sixth decade of life. It is characterized by a relatively good prognosis and exhibits a low degree of malignancy. Histopathologic diagnosis of ChRCC can be a diagnostic challenge because these tumors may resemble oncocytoma or conventional cancer. Research by Mathers et al. proposed the use of cytokeratin 7 as a marker useful in the differentiation of these changes. PMID:27478468

  19. Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report

    PubMed Central

    LIN, FU-JUN; LU, WEI; GALE, DANIEL; YAO, YAO; ZOU, REN; BIAN, FAN; JIANG, GENG-RU

    2016-01-01

    Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end-stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function. A clinical diagnosis of autosomal recessive polycystic kidney disease was made initially as the patient's parents are clinically healthy. However, the consideration of extra-renal involvements (imperforate anus at birth, preaxial polydactyly and dysplastic right ear) following the progression of the patient to ESRF at the age of 16 years, led to the diagnosis of TBS. This prompted sequencing of the SALL1 gene, which identified a novel heterozygous nonsense mutation in the mutational ‘hotspot’ of exon 2 (c.874C>T, p.Q292X), and this mutation was not detected in healthy controls. The current case highlights that TBS may present with normal sized, cystic kidneys in childhood, while recognition of extra-renal features of cystic kidney diseases, such as TBS, and genetic testing may facilitate the correct diagnosis and transmission mode. Reaching a correct diagnosis of as TBS is important since this condition has a 50% rate of transmission to offspring and can progress to ESRF early in life. PMID:27073431

  20. Survival Analysis of Patients with End Stage Renal Disease

    NASA Astrophysics Data System (ADS)

    Urrutia, J. D.; Gayo, W. S.; Bautista, L. A.; Baccay, E. B.

    2015-06-01

    This paper provides a survival analysis of End Stage Renal Disease (ESRD) under Kaplan-Meier Estimates and Weibull Distribution. The data were obtained from the records of V. L. MakabaliMemorial Hospital with respect to time t (patient's age), covariates such as developed secondary disease (Pulmonary Congestion and Cardiovascular Disease), gender, and the event of interest: the death of ESRD patients. Survival and hazard rates were estimated using NCSS for Weibull Distribution and SPSS for Kaplan-Meier Estimates. These lead to the same conclusion that hazard rate increases and survival rate decreases of ESRD patient diagnosed with Pulmonary Congestion, Cardiovascular Disease and both diseases with respect to time. It also shows that female patients have a greater risk of death compared to males. The probability risk was given the equation R = 1 — e-H(t) where e-H(t) is the survival function, H(t) the cumulative hazard function which was created using Cox-Regression.

  1. DIAGNOSIS AND MANAGEMENT OF GASTROESOPHAGEAL REFLUX DISEASE

    PubMed Central

    Henry, Maria Aparecida Coelho de Arruda

    2014-01-01

    Introduction Gastroesophageal reflux disease (GERD) is probably one of the most prevalent diseases in the world that also compromises the quality of life of the affected significantly. Its incidence in Brazil is 12%, corresponding to 20 million individuals. Objective To update the GERD management and the new trends on diagnosis and treatment, reviewing the international and Brazilian experience on it. Method The literature review was based on papers published on Medline/Pubmed, SciELO, Lilacs, Embase and Cochrane crossing the following headings: gastroesophageal reflux disease, diagnosis, clinical treatment, surgery, fundoplication. Results Various factors are involved on GERD physiopathology, the most important being the transient lower esophageal sphincter relaxation. Clinical manifestations are heartburn, regurgitation (typical symptoms), cough, chest pain, asthma, hoarseness and throat clearing (atypical symptoms), which may be followed or not by typical symptoms. GERD patients may present complications such as peptic stenosis, hemorrhage, and Barrett's esophagus, which is the most important predisposing factor to adenocarcinoma. The GERD diagnosis must be based on the anamnesis and the symptoms must be evaluated in terms of duration, intensity, frequency, triggering and relief factors, pattern of evolution and impact on the patient's quality of life. The diagnosis requires confirmation with different exams. The goal of the clinical treatment is to relieve the symptoms and surgical treatment is indicated for patients who require continued drug use, with intolerance to prolonged clinical treatment and with GERD complications. Conclusion GERD is a major digestive health problem and affect 12% of Brazilian people. The anamnesis is fundamental for the diagnosis of GERD, with special analysis of the typical and atypical symptoms (duration, intensity, frequency, triggering and relief factors, evolution and impact on the life quality). High digestive endoscopy and

  2. Cucumber disease diagnosis using multispectral images

    NASA Astrophysics Data System (ADS)

    Feng, Jie; Li, Hongning; Shi, Junsheng; Yang, Weiping; Liao, Ningfang

    2009-07-01

    In this paper, multispectral imaging technique for plant diseases diagnosis is presented. Firstly, multispectral imaging system is designed. This system utilizes 15 narrow-band filters, a panchromatic band, a monochrome CCD camera, and standard illumination observing environment. The spectral reflectance and color of 8 Macbeth color patches are reproduced between 400nm and 700nm in the process. In addition, spectral reflectance angle and color difference is obtained through measurements and analysis of color patches using spectrometer and multispectral imaging system. The result shows that 16 narrow-bands multispectral imaging system realizes good accuracy in spectral reflectance and color reproduction. Secondly, a horticultural plant, cucumber' familiar disease are the researching objects. 210 multispectral samples are obtained by multispectral and are classified by BP artificial neural network. The classification accuracies of Sphaerotheca fuliginea, Corynespora cassiicola, Pseudoperonospora cubensis are 100%. Trichothecium roseum and Cladosporium cucumerinum are 96.67% and 90.00%. It is confirmed that the multispectral imaging system realizes good accuracy in the cucumber diseases diagnosis.

  3. Diagnosis of Neurodegenerative Diseases: The Clinical Approach.

    PubMed

    Gómez-Río, Manuel; Caballero, Manuel Moreno; Górriz Sáez, Juan Manuel; Mínguez-Castellanos, Adolfo

    2016-01-01

    There are a number of clinical questions for which there are no easy answers, even for well-trained doctors. The diagnostic tool commonly used to assess cognitive impairment in neurodegenerative diseases is based on established clinical criteria. However, the differential diagnosis between disorders can be difficult, especially in early phases or atypical variants. This takes on particular importance when it is still possible to use an appropriate treatment. To solve this problem, physicians need to have access to an arsenal of diagnostic tests, such as neurofunctional imaging, that allow higher specificity in clinical assessment. However, the reliability of diagnostic tests may vary from one to the next, so the diagnostic validity of a given investigation must be estimated by comparing the results obtained from "true" criteria to the "gold standard" or reference test. While pathological analysis is considered to be the gold standard in a wide spectrum of diseases, it cannot be applied to neurological processes. Other approaches could provide solutions, including clinical patient follow-up, creation of a data bank or use of computer-aided diagnostic algorithms. In this article, we discuss the development of different methodological procedures related to analysis of diagnostic validity and present an example from our own experience based on the use of I-123-ioflupane-SPECT in the study of patients with movement disorders. The aim of this chapter is to approach the problem of diagnosis from the point of view of the clinician, taking into account specific aspects of neurodegenerative disease. PMID:26567736

  4. Huntington's disease: pathogenesis, diagnosis and treatment.

    PubMed Central

    Purdon, S E; Mohr, E; Ilivitsky, V; Jones, B D

    1994-01-01

    This review of the clinical features of Huntington's disease incorporates recent developments in pathophysiology, preclinical diagnosis and treatment. Although the mechanism initiating and guiding the cell destruction in this illness is currently unknown, the excitatory neurotoxin and the energy metabolism models may provide a valuable direction for future research. Similarly, although the precise relation between the neuroanatomical damage in Huntington's disease and the functional disability is not clear, applications of recently developed neural connection models have implicated a number of important brain-behavior associations. Preclinical diagnostic procedures have evolved through successive iterations that have each contributed to increased reliability. New functional brain imaging techniques are sure to add to this promising domain in the future. Preclinical diagnosis has been stimulated by the recent isolation of the Huntington's gene which has also rekindled awareness of the importance of informed genetic counselling and the inherent ethical dilemmas in genetic testing. Treatment approaches to Huntington's disease have been confined to palliative care with secondary symptom management and psychotherapeutic support. Experimental therapeutic strategies for the illness itself have had a rather disappointing record to date. Further developments in NMDA antagonism and neural cell grafting may provide some hope for the future. PMID:7528535

  5. [Modern diagnosis of sexually transmitted diseases].

    PubMed

    Brockmeyer, N H; Meyer, T

    2016-01-01

    Diagnosis of sexually transmitted diseases (STD) has significantly improved in recent years by the application of nucleic acid amplification tests (NAAT). In addition to detection of infectious agents, molecular methods were also used for characterization of pathogens (typing, genotypic resistance testing). In contrast to conventional Sanger sequencing of amplicons, new sequencing technologies (next generation sequencing) are able to identify resistant variants that represent only small minorities in a heterogeneous population. NAATs are also available as fully automated closed systems that can be run independently of centralized laboratories and will become increasingly important for point-of-care testing. PMID:26646440

  6. Assessment of Renal Pathology and Dysfunction in Pediatric Patients with Fabry Disease

    PubMed Central

    Ramaswami, Uma; Najafian, Behzad; Schieppati, Arrigo; Mauer, Michael; Bichet, Daniel G.

    2016-01-01

    Overt renal disease often first presents in males with Fabry disease in early-to-mid adulthood, but proteinuria and reduced glomerular filtration rate may occur in adolescents and in young children. More recently, kidney biopsy data have shown early renal histological changes in pediatric patients. Renal investigations and their timing in children remain poorly defined. A consensus on renal investigations is necessary to understand the natural progression of the disease and to evaluate the efficacy of treatments such as enzyme replacement therapies. This manuscript addresses three main categories, including the use of glomerular filtration rates, measuring albuminuria and renal biopsies in children. PMID:20056758

  7. Meaningful rehabilitation of the end-stage renal disease patient.

    PubMed

    Thornton, T A; Hakim, R M

    1997-05-01

    In this highly technological age, health care providers are called to attend to the patient as a whole person, with dreams and goals and a desire for purpose and meaning in life. In this article, we propose a broadened definition of rehabilitation and a rehabilitation program designed to effect an improvement in the quality of life of each renal patient by aiming to restore meaningful existence in each of their lives. An individualized plan for rehabilitation can be constructed and implemented with far-reaching success when the focus is on the life goals of the patient, whether physical, social, psychological, or intellectual. These programs not only enhance the quality of life of the patient with end-stage renal disease, but are cost-effective, both at the societal level and at the level of the dialysis clinic. PMID:9165654

  8. Acute renal failure: outcomes and risk of chronic kidney disease.

    PubMed

    Block, C A; Schoolwerth, A C

    2007-09-01

    Acute renal failure (ARF) is a common condition, especially among the critically ill, and confers a high mortality. The incidence of ARF is increasing. Efforts such as the Acute Dialysis Quality Initiative (ADQI) are being undertaken to establish a consensus definition of ARF, and to distinguish between varying degrees of acute kidney injury that might confer a different prognosis. Data are emerging to allow comparison of the epidemiology of ARF across institutions internationally. There is ongoing recognition of the important interaction between ARF and chronic kidney disease and more information regarding recovery from ARF is available. Controversy exists regarding the optimal management of ARF. Recent publications emphasize the importance of timing and dose of renal replacement therapy rather than the modality of treatment (intermittent hemodialysis vs continuous therapies). These issues are explored in this review. PMID:17912228

  9. [Renal elastography].

    PubMed

    Correas, Jean-Michel; Anglicheau, Dany; Gennisson, Jean-Luc; Tanter, Mickael

    2016-04-01

    Renal elastography has become available with the development of noninvasive quantitative techniques (including shear-wave elastography), following the rapidly growing field of diagnosis and quantification of liver fibrosis, which has a demonstrated major clinical impact. Ultrasound or even magnetic resonance techniques are leaving the pure research area to reach the routine clinical use. With the increased incidence of chronic kidney disease and its specific morbidity and mortality, the noninvasive diagnosis of renal fibrosis can be of critical value. However, it is difficult to simply extend the application from one organ to the other due to a large number of anatomical and technical issues. Indeed, the kidney exhibits various features that make stiffness assessment more complex, such as the presence of various tissue types (cortex, medulla), high spatial orientation (anisotropy), local blood flow, fatty sinus with variable volume and echotexture, perirenal space with variable fatty content, and the variable depth of the organ. Furthermore, the stiffness changes of the renal parenchyma are not exclusively related to fibrosis, as renal perfusion or hydronephrosis will impact the local elasticity. Renal elastography might be able to diagnose acute or chronic obstruction, or to renal tumor or pseudotumor characterization. Today, renal elastography appears as a promising application that still requires optimization and validation, which is the contrary for liver stiffness assessment. PMID:26976058

  10. Clinical Scenarios in Chronic Kidney Disease: Parenchymal Chronic Renal Diseases - Part 2.

    PubMed

    Petrucci, Ilaria; Samoni, Sara; Meola, Mario

    2016-01-01

    Secondary nephropathies can be associated with disreactive immunological disorders or with a non-inflammatory glomerular damage. In systemic lupus erythematosus (SLE), scleroderma and rheumatoid arthritis as in other connective tissue diseases, kidney volume and cortex echogenicity are the parameters that best correlate with clinical severity of the disease, even if the morphological aspect is generally non-specific. Doppler studies in SLE document the correlation between resistance indexes (RIs) values and renal function. Acquired immunodeficiency syndrome (HIV) causes different types of renal damage. At ultrasound (US), kidneys have almost a normal volume, while during superinfection they enlarge (coronal diameter >13 cm) and become globular, loosing their normal aspect. Cortex appears highly hyperechoic, uniform or patchy. Microcalcifications of renal cortex and medulla are a US sign that can suggest HIV. In amyloidosis, kidneys appear normal or increased in volume in the early stages of disease. Renal cortex is diffusely hyperechoic and pyramids can show normal size and morphology, but more often they appear poorly defined and hyperechoic. RIs are very high since the early stages of the disease. Nephromegaly with normal kidney shape is the first sign of lymphoma or multiple myeloma. In systemic vasculitis, renal cortex is diffusely hyperechoic, while pyramids appear hypoechoic and globular due to interstitial edema. When vasculitis determines advanced chronic kidney disease stages, kidneys show no specific signs. Microcirculation damage is highlighted by increased RIs values >0.70 in the chronic phase. PMID:27169551

  11. Automated system for periodontal disease diagnosis

    NASA Astrophysics Data System (ADS)

    Albalat, Salvador E.; Alcaniz-Raya, Mariano L.; Juan, M. Carmen; Grau Colomer, Vincente; Monserrat, Carlos

    1997-04-01

    Evolution of periodontal disease is one of the most important data for the clinicians in order to achieve correct planning and treatment. Clinical measure of the periodontal sulcus depth is the most important datum to know the exact state of periodontal disease. These measures must be done periodically study bone resorption evolution around teeth. Time factor of resorption indicates aggressiveness of periodontitis. Manual probes are commonly used with direct reading. Mechanical probes give automatic signal but this method uses complicated and heavy probes that are only limited for University researchers. Probe position must be the same to have right diagnosis. Digital image analysis of periodontal probing provides practical, accurate and easy tool. Gum and plaque index could also be digitally measured with this method.

  12. Virtual karyotyping with SNP microarrays reduces uncertainty in the diagnosis of renal epithelial tumors

    PubMed Central

    Hagenkord, Jill M; Parwani, Anil V; Lyons-Weiler, Maureen A; Alvarez, Karla; Amato, Robert; Gatalica, Zoran; Gonzalez-Berjon, Jose M; Peterson, Leif; Dhir, Rajiv; Monzon, Federico A

    2008-01-01

    Background Renal epithelial tumors are morphologically, biologically, and clinically heterogeneous. Different morphologic subtypes require specific management due to markedly different prognosis and response to therapy. Each common subtype has characteristic chromosomal gains and losses, including some with prognostic value. However, copy number information has not been readily accessible for clinical purposes and thus has not been routinely used in the diagnostic evaluation of these tumors. This information can be useful for classification of tumors with complex or challenging morphology. 'Virtual karyotypes' generated using SNP arrays can readily detect characteristic chromosomal lesions in paraffin embedded renal tumors and can be used to correctly categorize the common subtypes with performance characteristics that are amenable for routine clinical use. Methods To investigate the use of virtual karyotypes for diagnostically challenging renal epithelial tumors, we evaluated 25 archived renal neoplasms where sub-classification could not be definitively rendered based on morphology and other ancillary studies. We generated virtual karyotypes with the Affymetrix 10 K 2.0 mapping array platform and identified the presence of genomic lesions across all 22 autosomes. Results In 91% of challenging cases the virtual karyotype unambiguously detected the presence or absence of chromosomal aberrations characteristic of one of the common subtypes of renal epithelial tumors, while immunohistochemistry and fluorescent in situ hybridization had no or limited utility in the diagnosis of these tumors. Conclusion These results show that virtual karyotypes generated by SNP arrays can be used as a practical ancillary study for the classification of renal epithelial tumors with complex or ambiguous morphology. PMID:18990225

  13. Family Stress with Chronic Childhood Illness: Cystic Fibrosis, Neuromuscular Disease, and Renal Disease.

    ERIC Educational Resources Information Center

    Holroyd, Jean; Guthrie, Donald

    1986-01-01

    Parents of children with neuromuscular disease, cystic fibrosis, and renal disease were compared with parents of control subjects matched by age to the clinical cases. The three clinical groups exhibited different patterns of stressful response, consistent with the nature of their illnesses and the requirements for care imposed on the families.…

  14. Perinatal differential diagnosis of cystic kidney disease and urinary tract obstruction: anatomic pathologic, ultrasonographic and genetic findings.

    PubMed

    Friedmann, W; Vogel, M; Dimer, J S; Luttkus, A; Büscher, U; Dudenhausen, J W

    2000-04-01

    According to the classification of Osathanondh and Potter of cystic kidney diseases an antenatal differential diagnosis is presented, which is based on the anatomic pathologic, ultrasonographic and genetic findings. Since the ultrasound evaluation influences the obstetric and neonatal management, each second and third trimester sonography should consider the most common malformations in pediatric autopsies. The autosomal recessive polycystic kidney disease (ARPK), autosomal dominant polycystic kidney disease (ADPK), multicystic renal dysplasia, obstructive multicystic kidneys and cystic renal malformations found in other syndromes with genetic linkage are discussed in this review. PMID:10725570

  15. Symmetric Dimethylarginine: Improving the Diagnosis and Staging of Chronic Kidney Disease in Small Animals.

    PubMed

    Relford, Roberta; Robertson, Jane; Clements, Celeste

    2016-11-01

    Chronic kidney disease (CKD) is a common condition in cats and dogs, traditionally diagnosed after substantial loss of kidney function when serum creatinine concentrations increase. Symmetric dimethylarginine (SDMA) is a sensitive circulating kidney biomarker whose concentrations increase earlier than creatinine as glomerular filtration rate decreases. Unlike creatinine SDMA is unaffected by lean body mass. The IDEXX SDMA test introduces a clinically relevant and reliable tool for the diagnosis and management of kidney disease. SDMA has been provisionally incorporated into the International Renal Interest Society guidelines for CKD to aid staging and targeted treatment of early and advanced disease. PMID:27499007

  16. Celiac disease: prevalence, diagnosis, pathogenesis and treatment.

    PubMed

    Gujral, Naiyana; Freeman, Hugh J; Thomson, Alan B R

    2012-11-14

    Celiac disease (CD) is one of the most common diseases, resulting from both environmental (gluten) and genetic factors [human leukocyte antigen (HLA) and non-HLA genes]. The prevalence of CD has been estimated to approximate 0.5%-1% in different parts of the world. However, the population with diabetes, autoimmune disorder or relatives of CD individuals have even higher risk for the development of CD, at least in part, because of shared HLA typing. Gliadin gains access to the basal surface of the epithelium, and interact directly with the immune system, via both trans- and para-cellular routes. From a diagnostic perspective, symptoms may be viewed as either "typical" or "atypical". In both positive serological screening results suggestive of CD, should lead to small bowel biopsy followed by a favourable clinical and serological response to the gluten-free diet (GFD) to confirm the diagnosis. Positive anti-tissue transglutaminase antibody or anti-endomysial antibody during the clinical course helps to confirm the diagnosis of CD because of their over 99% specificities when small bowel villous atrophy is present on biopsy. Currently, the only treatment available for CD individuals is a strict life-long GFD. A greater understanding of the pathogenesis of CD allows alternative future CD treatments to hydrolyse toxic gliadin peptide, prevent toxic gliadin peptide absorption, blockage of selective deamidation of specific glutamine residues by tissue, restore immune tolerance towards gluten, modulation of immune response to dietary gliadin, and restoration of intestinal architecture. PMID:23155333

  17. Celiac disease: Prevalence, diagnosis, pathogenesis and treatment

    PubMed Central

    Gujral, Naiyana; Freeman, Hugh J; Thomson, Alan BR

    2012-01-01

    Celiac disease (CD) is one of the most common diseases, resulting from both environmental (gluten) and genetic factors [human leukocyte antigen (HLA) and non-HLA genes]. The prevalence of CD has been estimated to approximate 0.5%-1% in different parts of the world. However, the population with diabetes, autoimmune disorder or relatives of CD individuals have even higher risk for the development of CD, at least in part, because of shared HLA typing. Gliadin gains access to the basal surface of the epithelium, and interact directly with the immune system, via both trans- and para-cellular routes. From a diagnostic perspective, symptoms may be viewed as either “typical” or “atypical”. In both positive serological screening results suggestive of CD, should lead to small bowel biopsy followed by a favourable clinical and serological response to the gluten-free diet (GFD) to confirm the diagnosis. Positive anti-tissue transglutaminase antibody or anti-endomysial antibody during the clinical course helps to confirm the diagnosis of CD because of their over 99% specificities when small bowel villous atrophy is present on biopsy. Currently, the only treatment available for CD individuals is a strict life-long GFD. A greater understanding of the pathogenesis of CD allows alternative future CD treatments to hydrolyse toxic gliadin peptide, prevent toxic gliadin peptide absorption, blockage of selective deamidation of specific glutamine residues by tissue, restore immune tolerance towards gluten, modulation of immune response to dietary gliadin, and restoration of intestinal architecture. PMID:23155333

  18. Sorafenib treatment for recurrent stage T1 bilateral renal cell carcinoma in patients with Von Hippel- Lindau disease: A case report and literature review

    PubMed Central

    Choi, Kyung Hwa; Yu, Young Dong; Kang, Moon Hyung; Park, Dong Soo

    2015-01-01

    Renal cell carcinoma (RCC) with Von Hippel-Lindau (VHL) syndrome is associated with multiple recurrences and a young age at diagnosis. Therefore the primary goal of treatment is to stabilize the disease, minimizing the surgical resection and preserving the renal function in the patients with VHL who have developing RCC nodules after initial treatment. This is the first case report of VHL disease, with long-term stable disease, treated with a half dose of sorafenib after surgical resection and radiofrequency ablation for multiple recurrent stage T1 masses. We discuss the efficacy and safety of low-dose sorafenib treatment and review RCC in a patient with VHL disease. PMID:26425233

  19. Imaging-based diagnosis of autosomal dominant polycystic kidney disease.

    PubMed

    Pei, York; Hwang, Young-Hwan; Conklin, John; Sundsbak, Jamie L; Heyer, Christina M; Chan, Winnie; Wang, Kairong; He, Ning; Rattansingh, Anand; Atri, Mostafa; Harris, Peter C; Haider, Masoom A

    2015-03-01

    The clinical use of conventional ultrasonography (US) in autosomal dominant polycystic kidney disease (ADPKD) is currently limited by reduced diagnostic sensitivity, especially in at-risk subjects younger than 30 years of age. In this single-center prospective study, we compared the diagnostic performance of MRI with that of high-resolution (HR) US in 126 subjects ages 16-40 years born with a 50% risk of ADPKD who underwent both these renal imaging studies and comprehensive PKD1 and PKD2 mutation screening. Concurrently, 45 healthy control subjects without a family history of ADPKD completed the same imaging protocol. We analyzed 110 at-risk subjects whose disease status was unequivocally defined by molecular testing and 45 unaffected healthy control subjects. Using a total of >10 cysts as a test criterion in subjects younger than 30 years of age, we found that MRI provided both a sensitivity and specificity of 100%. Comparison of our results from HR US with those from a previous study of conventional US using the test criterion of a total of three or more cysts found a higher diagnostic sensitivity (approximately 97% versus approximately 82%) with a slightly decreased specificity (approximately 98% versus 100%) in this study. Similar results were obtained in test subjects between the ages of 30 and 40 years old. These results suggest that MRI is highly sensitive and specific for diagnosis of ADPKD. HR US has the potential to rival the diagnostic performance of MRI but is both center- and operator-dependent. PMID:25074509

  20. Protein biomarkers associated with acute renal failure and chronic kidney disease.

    PubMed

    Perco, P; Pleban, C; Kainz, A; Lukas, A; Mayer, G; Mayer, B; Oberbauer, R

    2006-11-01

    Acute renal failure (ARF) as well as chronic kidney disease (CKD) are currently categorized according to serum creatinine concentrations. Serum creatinine, however, has shortcomings because of its low predictive values. The need for novel markers for the early diagnosis and prognosis of renal diseases is imminent, particularly for markers reflecting intrinsic organ injury in stages when glomerular filtration is not impaired. This review summarizes protein markers discussed in the context of ARF as well as CKD, and provides an overview on currently available discovery results following 'omics' techniques. The identified set of candidate marker proteins is discussed in their cellular and functional context. The systematic review of proteomics and genomics studies revealed 56 genes to be associated with acute or chronic kidney disease. Context analysis, i.e. correlation of biological processes and molecular functions of reported kidney markers, revealed that 15 genes on the candidate list were assigned to the most significant ontology groups: immunity and defence. Other significantly enriched groups were cell communication (14 genes), signal transduction (22 genes) and apoptosis (seven genes). Among 24 candidate protein markers, nine proteins were also identified by gene expression studies. Next generation candidate marker proteins with improved diagnostic and prognostic values for kidney diseases will be derived from whole genome scans and protemics approaches. Prospective validation still remains elusive for all proposed candidates. PMID:17032342

  1. Diagnosis and therapy of coronary artery disease: Second edition

    SciTech Connect

    Cohn, P.F.

    1985-01-01

    This book contains 18 selections. Some of the titles are: Nuclear cardiology; Diagnosis of acute myocardial infarction; Therapy of angina pectoris; Psychosocial aspects of coronary artery disease; Nonatherosclerotic coronary artery disease; and The epidemiology of coronary artery disease.

  2. Nephrology Update: End-Stage Renal Disease and Renal Replacement Therapy.

    PubMed

    Desai, Niraj; Rahman, Mahboob

    2016-05-01

    End-stage renal disease (ESRD) is associated with high rates of morbidity and mortality, and increased health care use. Optimal management of patients with ESRD requires close collaboration among primary care physicians, nephrology subspecialists, and other subspecialists. Critical issues for the family physician include helping patients transition from chronic kidney disease to ESRD, recognizing and managing common issues in patients receiving dialysis or after kidney transplantation, and understanding palliative care for patients with ESRD. Dialysis typically is initiated for patients with a glomerular filtration rate less than 15 mL/min/1.73 m(2) if they are symptomatic due to uremia or if medical management of metabolic conditions is unsuccessful. Kidney transplantation is the optimal form of renal replacement therapy in suitable patients. The choice between hemodialysis and peritoneal dialysis often is based on patient preference and coexisting conditions. Meticulous monitoring of volume status is necessary to achieve and maintain control of blood pressure. Sleep disorders and pruritus are common and can be managed by optimization of metabolic parameters, adequacy of dialysis, and drugs. PMID:27163762

  3. Renal alterations in feline immunodeficiency virus (FIV)-infected cats: a natural model of lentivirus-induced renal disease changes.

    PubMed

    Poli, Alessandro; Tozon, Natasa; Guidi, Grazia; Pistello, Mauro

    2012-09-01

    Human immunodeficiency virus (HIV) is associated with several renal syndromes including acute and chronic renal failures, but the underlying pathogenic mechanisms are unclear. HIV and feline immunodeficiency virus (FIV) share numerous biological and pathological features, including renal alterations. We investigated and compared the morphological changes of renal tissue of 51 experimentally and 21 naturally infected cats. Compared to the latter, the experimentally infected cats exhibited some mesangial widening and glomerulonephritis, milder proteinuria, and lower tubular and interstitial alterations. The numbers of giant protein tubular casts and tubular microcysts were also lower. In contrast, diffuse interstitial infiltrates and glomerular and interstitial amyloidosis were detected only in naturally infected cats. Similar alterations are found in HIV infected patients, thus supporting the idea of a causative role of FIV infection in renal disease, and underlining the relevance of the FIV and its natural host as an animal model for investigating lentivirus-associated nephropathy. PMID:23170163

  4. Renal Alterations in Feline Immunodeficiency Virus (FIV)-Infected Cats: A Natural Model of Lentivirus-Induced Renal Disease Changes

    PubMed Central

    Poli, Alessandro; Tozon, Natasa; Guidi, Grazia; Pistello, Mauro

    2012-01-01

    Human immunodeficiency virus (HIV) is associated with several renal syndromes including acute and chronic renal failures, but the underlying pathogenic mechanisms are unclear. HIV and feline immunodeficiency virus (FIV) share numerous biological and pathological features, including renal alterations. We investigated and compared the morphological changes of renal tissue of 51 experimentally and 21 naturally infected cats. Compared to the latter, the experimentally infected cats exhibited some mesangial widening and glomerulonephritis, milder proteinuria, and lower tubular and interstitial alterations. The numbers of giant protein tubular casts and tubular microcysts were also lower. In contrast, diffuse interstitial infiltrates and glomerular and interstitial amyloidosis were detected only in naturally infected cats. Similar alterations are found in HIV infected patients, thus supporting the idea of a causative role of FIV infection in renal disease, and underlining the relevance of the FIV and its natural host as an animal model for investigating lentivirus-associated nephropathy. PMID:23170163

  5. Diagnosing and treating renal disease in cirrhotic patients.

    PubMed

    Wong, Florence

    2016-09-01

    Renal dysfunction in cirrhosis is mostly related to the development of acute kidney injury (AKI), precipitated by either an acute disturbance of hemodynamics, or acute structural damage to the kidneys. The incidence of chronic renal failure is rising, due to increasing prevalence of conditions such as diabetes, viral hepatitis, which can be associated with renal damage. AKI is defined as a rise in serum creatinine of 0.3 mg/dL in <48 hours or by 50% from baseline within the past 3 months without setting a threshold for the final serum creatinine. Stages 1, 2, and 3 of AKI are defined as 150%, 200% and 300% of baseline serum creatinine respectively, which allows for assessment of AKI progression. Chronic kidney disease (CKD) is defined as an estimated glomerular filtration rate of <60 mL/min for >3 months. Treatment of AKI consists of removal of precipitating factors and replenishment of the intravascular volume using colloids such as albumin. Frequently, AKI can be reversed using these measures alone. Non-responders to removal of precipitating factors and volume challenge can receive vasoconstrictors such as terlipressin or norepinephrine together with albumin. Midodrine is inferior in efficacy as a vasoconstrictor when compared to terlipressin. Liver transplantation is the definitive treatment for type 1 hepatorenal syndrome with liver failure. Delay in receiving a liver transplant can result in non-recovery of renal function post transplant. Treatment of CKD in cirrhosis is unsatisfactory, mostly aimed at optimizing management of comorbid conditions, or treating the underlying refractory ascites in patients with type 2 hepatorenal syndrome. PMID:27096702

  6. Pulp Stone, Haemodialysis, End-stage Renal Disease, Carotid Atherosclerosis

    PubMed Central

    Patil, Santosh; Sinha, Nidhi

    2013-01-01

    Objectives: The aim of this study was to determine the relationship between the presence of pulp calcification and carotid artery calcification on the dental panoramic radiographs in End Stage Renal Disease (ESRD) patients who were on haemodialysis. Methods: A total of 112 End Stage Renal Disease (ESRD) patients on who were haemodialysis participated in this study. The periapical and the panoramic radiographs for all the patients were evaluated for the presence or absence of the narrowing of the dental pulps and for pulp stones in the pulp chambers and the pulp canals. The panoramic radiographs were also evaluated to determine the carotid calcification. Results: Carotid calcifications were detected in none of the patients. 84 (74.99%) patients had dental pulp narrowing, and 38 (33.92%) patients had pulp stones. There was no statistical correlation between pulp narrowing and Carotid Artery Calcification (CAC) in the haemodialysis patient group. There was also no statistical correlation between pulp stones and CAC in the haemodialysis patients. Conclusion: However, the incidental finding of CAC on a panoramic radiograph can provide life-saving information for the vascular disease patients, but in the present study, no significant relationship was found between the presence of the pulpal calcification and CAC in the ESRD patients who were on haemodialysis. Therefore, the presence of pulp calcification does not seem to serve as a diagnostic marker for carotid atherosclerosis. PMID:23905147

  7. Medicare end stage renal disease population, 1982-87

    PubMed Central

    Breidenbaugh, M. Zermain; Sarsitis, Ida M.; Milam, Roger A.

    1990-01-01

    A synopsis is given between the relationship of the number of end stage renal disease (ESRD) patients to the total Medicare population and their associated expenditures. The aging trend within the ESRD population is examined in terms of enrollment statistics and incidence (new cases) counts. Also, longitudinal trends in expenditures, program enrollment, and incidence of ESRD are included. Findings indicate that the ESRD population is growing at a faster rate than Medicare in general. Further, within ESRD, the beneficiary population is aging. PMID:10113457

  8. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

    ClinicalTrials.gov

    2016-08-23

    Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

  9. Cyst infection in unilateral renal cystic disease and the role of diffusion-weighted magnetic resonance imaging.

    PubMed

    Takase, Yasukazu; Kodama, Koichi; Motoi, Isamu; Saito, Katsuhiko

    2012-11-01

    In multicystic renal diseases, cyst infection is a complex issue because of the absence of validated diagnostic methods. Unilateral renal cystic disease is a rare multicystic disease, believed to have an acquired maldevelopmental origin. Unilateral renal cystic disease is often confused with autosomal dominant polycystic kidney disease but has some distinguishing characteristics: unilateral localization, negative family history, and no progression to chronic renal failure. We describe a case of unilateral renal cystic disease with cyst infection that could be detected by diffusion-weighted magnetic resonance imaging, but not by conventional imaging techniques. Diffusion-weighted magnetic resonance imaging can be useful for detecting infected cysts, especially in multicystic renal diseases. PMID:22990058

  10. Diagnosis and management of ischemic heart disease.

    PubMed

    Lippi, Giuseppe; Franchini, Massimo; Cervellin, Gianfranco

    2013-03-01

    Ischemic heart disease (IHD) is the leading cause of death and disability worldwide. An early and accurate diagnosis of IHD is necessary to improve outcomes. According to recent guidelines, the diagnosis of acute myocardial infarction (AMI) is based on increased or decreased value of cardiospecific troponins with one measure exceeding the 99th percentile upper reference limit, associated with symptoms suggestive for myocardial ischemia, indicative electrocardiogram abnormalities, and evidence of recent myocardial functional impairment or intracoronary thrombosis. The recent advent of highly sensitive troponin immunoassays has represented a paradigm shift, wherein the improved analytical sensitivity has increased the negative predictive value, while contextually decreasing the diagnostic specificity of these tests. Although several additional biomarkers have been proposed as surrogate or in combination with troponins, there is little evidence that any of these will substantially improve AMI diagnosis. With regard to therapy, early mechanical (i.e., percutaneous coronary intervention, PCI) or pharmacological reperfusion should be performed early in ST-segment elevation myocardial infarction (STEMI) within 12 h of symptom onset, whereas fibrinolysis may be considered in all other circumstances. Patients undergoing primary PCI should also receive a combination of double antiplatelet therapy (i.e., aspirin and adenosine diphosphate receptor blocker), associated with parenteral anticoagulation, preferably with low-molecular-weight heparin. In analogy with STEMI, a wealth of data shows that primary early invasive strategy (i.e., PCI) and antiplatelet therapy remains the cornerstone of management of patients with non-ST segment elevation acute coronary syndrome. Stem cell-based therapy has also emerged as a potentially therapeutic option, and there are ongoing efforts among several investigators to translate basic research into clinical practice. PMID:23378254

  11. Transient Hypocalcemia in a Dialysis Patient With Paget’s disease and Presumed Renal Cell Carcinoma

    PubMed Central

    Phelps, Kenneth R.; Mo, Jay; Czerwinskyj, Chrystina; Mathew, Roy O.

    2016-01-01

    A 68-year-old man with end-stage renal disease was hospitalized because of radicular pain and weakness in the left arm and hand. Sonography and computed tomography had recently shown a large right renal mass. On admission, magnetic resonance imaging demonstrated vertebral metastases with epidural extension, and radiotherapy was directed to the spine and kidney. Hypocalcemia was first noted on the fourth hospital day. A second computed tomography scan showed bleeding into and around the kidney, and arterial embolization was required to halt the bleeding. Hypocalcemia persisted for at least 27 days at values between 6.0 and 7.7 mg/dL and was consistently associated with ionized calcium concentrations less than or equal to 4.44 mg/dL. After an unrevealing search for a recognized cause, we attributed hypocalcemia to persistent sequestration of calcium in the right retroperitoneum. Exogenous supplementation eventually restored the concentration to normal. In the absence of renal and intestinal loss, hypocalcemia reflects abnormal flux of calcium from the extracellular compartment into tissue. Our patient’s repository appears to have been a necrotic and hemorrhagic cancer. Tumor-induced sequestration of calcium should be included in the differential diagnosis of hypocalcemia. PMID:27081654

  12. Transient Hypocalcemia in a Dialysis Patient With Paget's disease and Presumed Renal Cell Carcinoma.

    PubMed

    Phelps, Kenneth R; Mo, Jay; Czerwinskyj, Chrystina; Mathew, Roy O

    2016-01-01

    A 68-year-old man with end-stage renal disease was hospitalized because of radicular pain and weakness in the left arm and hand. Sonography and computed tomography had recently shown a large right renal mass. On admission, magnetic resonance imaging demonstrated vertebral metastases with epidural extension, and radiotherapy was directed to the spine and kidney. Hypocalcemia was first noted on the fourth hospital day. A second computed tomography scan showed bleeding into and around the kidney, and arterial embolization was required to halt the bleeding. Hypocalcemia persisted for at least 27 days at values between 6.0 and 7.7 mg/dL and was consistently associated with ionized calcium concentrations less than or equal to 4.44 mg/dL. After an unrevealing search for a recognized cause, we attributed hypocalcemia to persistent sequestration of calcium in the right retroperitoneum. Exogenous supplementation eventually restored the concentration to normal. In the absence of renal and intestinal loss, hypocalcemia reflects abnormal flux of calcium from the extracellular compartment into tissue. Our patient's repository appears to have been a necrotic and hemorrhagic cancer. Tumor-induced sequestration of calcium should be included in the differential diagnosis of hypocalcemia. PMID:27081654

  13. Potential Role of Tc-99m DTPA Diuretic Renal Scan in the Diagnosis of Calyceal Diverticulum in Children

    PubMed Central

    Lin, Chun-Chen; Shih, Bing-Fu; Shih, Shin-Lin; Tsai, Jeng-Daw

    2015-01-01

    Abstract The aim of the study was to assess the usefulness of Technetium-99m diethylene triamine pentaacetic acid (Tc-99m DTPA) diuretic scan to diagnose calyceal diverticulum (CD). From January 2000 to June 2014, children with evidence of renal cystic lesions of undetermined diagnosis on ultrasound were enrolled. Computed tomography urography (CTU) and Tc-99m DTPA diuretic scan were performed to characterize the precise anatomy. The diagnosis of CD depended on visualization of a renal cystic lesion with filling of contrast material or radiotracer from the collecting system on CTU or diuretic renal scan. Children who had positive findings of CD on 1 or both imaging studies were selected and analyzed. Both CTU and Tc-99m DTPA diuretic renal scan were performed in 39 children. A total of 9 (23.1 %) children with CD were diagnosed. All 9 children had positive diagnosis of CD on diuretic renal scan. Only 6 (66.7%) children could be diagnosed by CTU, and CD was missed by CTU in 3 subjects. The differential renal functions in patients with CD were 46% to 55%. The time of radiotracer appearance in the CD ranged from the 8th to the 24th minute. Seven patients had persistent accumulation of radiotracer in their CD at the end of the study. Tc-99m DTPA diuretic renal scan seems to be more sensitive than CTU in diagnosing CD. The possible reasons of higher sensitivity are discussed. Additional advantages that Tc-99m DTPA diuretic renal scan provides include the following: continuous monitoring, less radiation doses, and information on renal function, making it an attractive alternative to CTU for diagnosis of CD.

  14. ECG feature extraction and disease diagnosis.

    PubMed

    Bhyri, Channappa; Hamde, S T; Waghmare, L M

    2011-01-01

    An important factor to consider when using findings on electrocardiograms for clinical decision making is that the waveforms are influenced by normal physiological and technical factors as well as by pathophysiological factors. In this paper, we propose a method for the feature extraction and heart disease diagnosis using wavelet transform (WT) technique and LabVIEW (Laboratory Virtual Instrument Engineering workbench). LabVIEW signal processing tools are used to denoise the signal before applying the developed algorithm for feature extraction. First, we have developed an algorithm for R-peak detection using Haar wavelet. After 4th level decomposition of the ECG signal, the detailed coefficient is squared and the standard deviation of the squared detailed coefficient is used as the threshold for detection of R-peaks. Second, we have used daubechies (db6) wavelet for the low resolution signals. After cross checking the R-peak location in 4th level, low resolution signal of daubechies wavelet P waves and T waves are detected. Other features of diagnostic importance, mainly heart rate, R-wave width, Q-wave width, T-wave amplitude and duration, ST segment and frontal plane axis are also extracted and scoring pattern is applied for the purpose of heart disease diagnosis. In this study, detection of tachycardia, bradycardia, left ventricular hypertrophy, right ventricular hypertrophy and myocardial infarction have been considered. In this work, CSE ECG data base which contains 5000 samples recorded at a sampling frequency of 500 Hz and the ECG data base created by the S.G.G.S. Institute of Engineering and Technology, Nanded (Maharashtra) have been used. PMID:21770825

  15. Serum and urinary enzyme activities in renal artery embolism.

    PubMed

    Donadio, C; Auner, I; Giordani, R; Lucchetti, A; Pentimone, F

    1986-10-31

    Renal artery embolism is not a rare occurrence, especially in patients with valvular heart disease, but the early diagnosis of this condition is infrequently accomplished. We report the clinical and laboratory data of 2 patients with valvular heart disease who presented with unilateral renal artery embolization. The usefulness of the determination of serum and urinary enzymes and renal function tests is discussed. We propose that these parameters support an earlier and more accurate diagnosis of renal artery embolism. PMID:2877758

  16. Early diagnosis of acute postoperative renal transplant rejection by indium-111-labeled platelet scintigraphy

    SciTech Connect

    Tisdale, P.L.; Collier, B.D.; Kauffman, H.M.; Adams, M.B.; Isitman, A.T.; Hellman, R.S.; Hoffmann, R.G.; Rao, S.A.; Joestgen, T.; Krohn, L.

    1986-08-01

    A prospective evaluation of /sup 111/In-labeled platelet scintigraphy (IPS) for the early diagnosis of acute postoperative renal transplant rejection (TR) was undertaken. The results of IPS were compared with in vitro biochemical tests, the clinical finding of graft tenderness, and combined (/sup 99m/Tc)DTPA and (/sup 131/I)orthoiodohippurate scintigraphy. With a sensitivity of 0.93 and a specificity of 0.95, IPS provided otherwise unavailable diagnostic information. Furthermore, postoperative IPS was a good predictor of long-term allograft survival.

  17. Hemodynamic evaluation of suspected severe aortic stenosis leads to a diagnosis of renal cell carcinoma.

    PubMed

    Lake, Mikhailia; Tanawuttiwat, Tanyanan; Bilsker, Martin; De Marchena, Eduardo

    2015-02-01

    The evaluation of aortic stenosis is not always straightforward. When symptoms of severe aortic stenosis are present with supporting Doppler echocardiographic or cardiac catheterization data, replacement of the aortic valve is recommended. Occasionally, Doppler- and catheter-derived data are discordant; appropriate treatment in such cases becomes less clear. We report a case in which a 66-year-old man's symptoms and Doppler data suggested severe aortic stenosis. However, heart catheterization data suggested otherwise, and ultimately it led to the diagnosis of a highly vascular renal tumor. Shunting within the tumor resulted in high cardiac output, which, in combination with a small aortic root, masqueraded as severe aortic stenosis. PMID:25873807

  18. 99mtechnetium-dimercapto-succinic acid renal scanning and excretory urography in diagnosis of renal scars in children

    SciTech Connect

    McLorie, G.A.; Aliabadi, H.; Churchill, B.M.; Ash, J.M.; Gilday, D.L. )

    1989-09-01

    We compared the ability of excretory urography (without tomography) and 99mtechnetium-dimercapto-succinic acid renal scanning to detect renal scars in 32 children with primary vesicoureteral reflux. These children did not have hydronephrosis, renal failure or urinary tract obstruction. In all cases both studies were conducted within a 10-month period. The findings from both modalities were in agreement for 51 of the 64 renal units evaluated (80%). Evaluation of the excretory urogram indicated 6 cases of diffuse and 2 of focal scarring that were not detected by evaluation of the renal scan. The sensitivity of excretory urography to detect renal scars was 84% and the specificity was 83%. The 99mtechnetium-dimercapto-succinic acid renal scan showed 5 cases of focal renal scarring not detected by excretory urography. The sensitivity of the renal scan to detect renal scars was 77% and the specificity was 75%. We conclude that neither study alone could effectively replace the other for the detection of renal scars, and recommend that both be included in the initial evaluation and followup of patients with renal scars.

  19. HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease

    PubMed Central

    Sepahi, Mohsen Akhavan; Baraty, Behrouz; Shooshtary, Fatemeh Khalifeh

    2010-01-01

    Background HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion. Case Presentation Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome. PMID:23056694

  20. Silicosis and renal disease: insights from a case of IgA nephropathy

    PubMed Central

    RICCÒ, Matteo; THAI, Elena; CELLA, Simone

    2015-01-01

    A 68-yr-old male, smoker, is admitted for proteinuria (2,800 mg/24 h) and reduced renal function (serum creatinine 2 mg/dl, GFR 35 ml/min). Renter, he started working 20-yr-old as a sandstone cave miner. Despite the high levels of silica dusts, he reported no mandatory use of airways protection devices during the first 25 yr of activity. No clinical or radiological signs of silicosis or pneumoconiosis where reported until the year of retirement (1997). Erythrocyte sedimentation rate (91 mm/h) and C reactive protein (35 mg/l) suggested a pro-inflammatory status. High serum IgA was found (465 mg/dl). A renal biopsy identified glomerular sclerosis with IgA deposition, signs of diffuse vasculitis and tubular atrophia suggesting a diagnosis of IgA nephropathy. Chest X-Rays showed emphysema and diffuse nodularity suggesting diagnosis of silicosis. Chest tomography was also positive for mild signs of silicosis with silicotic nodules and without honeycombing. IgA nephropathy is the most common type of glomerulonephritis worldwide. Several clues suggest a genetic or acquired abnormality of immune system as a trigger of the increased production of IgA. In our case report, simultaneous kidney and pulmonary disease could suggest same triggers (e.g. exposure to virus, bacteria or environmental agents) inducing IgA synthesis and pulmonary immune system activation. PMID:26423329

  1. Silicosis and renal disease: insights from a case of IgA nephropathy.

    PubMed

    Riccò, Matteo; Thai, Elena; Cella, Simone

    2016-01-01

    A 68-yr-old male, smoker, is admitted for proteinuria (2,800 mg/24 h) and reduced renal function (serum creatinine 2 mg/dl, GFR 35 ml/min). Renter, he started working 20-yr-old as a sandstone cave miner. Despite the high levels of silica dusts, he reported no mandatory use of airways protection devices during the first 25 yr of activity. No clinical or radiological signs of silicosis or pneumoconiosis where reported until the year of retirement (1997). Erythrocyte sedimentation rate (91 mm/h) and C reactive protein (35 mg/l) suggested a pro-inflammatory status. High serum IgA was found (465 mg/dl). A renal biopsy identified glomerular sclerosis with IgA deposition, signs of diffuse vasculitis and tubular atrophia suggesting a diagnosis of IgA nephropathy. Chest X-Rays showed emphysema and diffuse nodularity suggesting diagnosis of silicosis. Chest tomography was also positive for mild signs of silicosis with silicotic nodules and without honeycombing. IgA nephropathy is the most common type of glomerulonephritis worldwide. Several clues suggest a genetic or acquired abnormality of immune system as a trigger of the increased production of IgA. In our case report, simultaneous kidney and pulmonary disease could suggest same triggers (e.g. exposure to virus, bacteria or environmental agents) inducing IgA synthesis and pulmonary immune system activation. PMID:26423329

  2. Neocytolysis contributes to the anemia of renal disease

    NASA Technical Reports Server (NTRS)

    Rice, L.; Alfrey, C. P.; Driscoll, T.; Whitley, C. E.; Hachey, D. L.; Suki, W.

    1999-01-01

    Neocytolysis is a recently described physiological process affecting the selective hemolysis of young red blood cells in circumstances of plethora. Erythropoietin (EPO) depression appears to initiate the process, providing the rationale to investigate its contributions to the anemia of renal disease. When EPO therapy was withheld, four of five stable hemodialysis patients showed chromium 51 (51Cr)-red cell survival patterns indicative of neocytolysis; red cell survival was short in the first 9 days, then normalized. Two of these four patients received oral 13C-glycine and 15N-glycine, and there was a suggestion of pathological isotope enrichment of stool porphyrins when EPO therapy was held, again supporting selective hemolysis of newly released red cells that take up the isotope (one patient had chronic hemolysis indicated by isotope studies of blood and stool). Thus, neocytolysis can contribute to the anemia of renal disease and explain some unresolved issues about such anemia. One implication is the prediction that intravenous bolus EPO therapy is metabolically and economically inefficient compared with lower doses administered more frequently subcutaneously.

  3. Neocytolysis Contributes to the Anemia of Renal Disease

    NASA Technical Reports Server (NTRS)

    Rice, Lawrence; Alfrey, Clarence P.; Driscoll, Theda; Whitley, Carl E.; Hachey, David; Suki, Wadi

    1997-01-01

    Neocytolysis is a recently described physiologic process effecting selective hemolysis of young red blood cells in circumstances of plethora. Erythropoietin depression appears to initiate the process, providing rationale to investigate its contributions to the anemia of renal disease. When erythropoietin therapy was withheld, four of five stable hemodialysis patients demonstrated Cr-51 red cell survival patterns indicative of neocytolysis; red cell survival was short in the first 9 days, then normalized. Two of these patients received oral (13)C-glycine and (15)N-glycine and showed pathologic enrichment of stool porphyrins by the most recently ingested isotope when EPO therapy was held. This confirms selective hemolysis of newly-released red cells. (One patient had chronic hemolysis by isotope studies of blood and stool.) Thus, neocytolysis can contribute to the anemia of renal disease and explains some unresolved issues about such anemia. One implication is the prediction that intravenous bolus erythropoietin therapy is metabolically and economically inefficient compared to lower doses given more frequently subcutaneously.

  4. Biomarkers of Renal Disease and Progression in Patients with Diabetes

    PubMed Central

    Hojs, Radovan; Ekart, Robert; Bevc, Sebastjan; Hojs, Nina

    2015-01-01

    Diabetes prevalence is increasing worldwide, mainly due to the increase in type 2 diabetes. Diabetic nephropathy occurs in up to 40% of people with type 1 or type 2 diabetes. It is important to identify patients at risk of diabetic nephropathy and those who will progress to end stage renal disease. In clinical practice, most commonly used markers of renal disease and progression are serum creatinine, estimated glomerular filtration rate and proteinuria or albuminuria. Unfortunately, they are all insensitive. This review summarizes the evidence regarding the prognostic value and benefits of targeting some novel risk markers for development of diabetic nephropathy and its progression. It is focused mainly on tubular biomarkers (neutrophil-gelatinase associated lipocalin, kidney injury molecule 1, liver-fatty acid-binding protein, N-acetyl-beta-d-glucosaminidase), markers of inflammation (pro-inflammatory cytokines, tumour necrosis factor-α and tumour necrosis factor-α receptors, adhesion molecules, chemokines) and markers of oxidative stress. Despite the promise of some of these new biomarkers, further large, multicenter prospective studies are still needed before they can be used in everyday clinical practice. PMID:26239462

  5. Renal Failure Found during the Follow-up of Sarcoidosis: The Relevance of a Delay in the Diagnosis of Concurrent Hypercalcemia.

    PubMed

    Hishida, Erika; Masuda, Takahiro; Akimoto, Tetsu; Sato, Ryuta; Wakabayashi, Natsuko; Miki, Atsushi; Otani, Naoko; Imai, Toshimi; Sugase, Taro; Takeda, Shin-Ichi; Muto, Shigeaki; Nagata, Daisuke

    2016-01-01

    We herein present a case of relapsed sarcoidosis with a deteriorated renal function accompanied by hypercalcemia, nephrolithiasis, and a ureteral stone in a woman with a history of ocular sarcoidosis. The ocular involvement appeared to be well controlled for a long period of time with a topical ophthalmic steroid; however, we believe that the absence of apparent recrudescence could have led to the delay in our diagnosis of relapse of the disease during the follow-up period. The conundrums regarding longitudinal surveillance for both evaluating the disease activity and determining the necessity of therapeutics are also discussed. PMID:27432099

  6. Diagnosis of lysosomal storage disorders: Gaucher disease.

    PubMed

    Johnson, Britt A; Dajnoki, Angela; Bodamer, Olaf

    2014-01-01

    Gaucher Disease (GD) is a progressive lysosomal storage disorder caused by deficiency of glucocerebrosidase (GBA). The clinical phenotype follows a spectrum ranging from severe early-onset to milder late-onset disease. The absence of neurological involvement defines GD type I, whereas neuronopathic features define GD type II and III. Early diagnosis may be important for timely initiation of enzyme replacement therapy to prevent disease complications, although the enzyme does not cross the blood brain barrier. Diagnosis of GD can be readily achieved by analysis of GBA in leukocytes, fibroblasts, and/or dried blood spots using fluorometric, microfluidic or mass spectrometry-based assays. Low GBA activities are typically confirmed through molecular analysis of the GBA gene. GBA analysis in dried blood spots may be attractive for high-throughput screening of at-risk individuals and/or newborn infants. The method detailed in this unit is based on GBA analysis by tandem mass spectrometry following incubation of dried blood spots with the GBA-specific substrate D-glucosyl-β1-1'-N-dodecanoyl-D-erythro-sphingosine [C12-glucocerebroside (C36H69NO8)] and internal standard N-myristoyl-D-erythro-sphingosine [C14-ceramide (C32H63NO3)]. GBA activities in more than 2,000 newborn infants showed a mean of 22.0 ± 13.8 μmol/hr/liter (median: 19.9 μmol/hr/liter; 95% CI: 21.41-22.59 μmol/hr/liter). GBA activities in an adult population (n >1,200) showed generally lower enzyme activities than newborns, with a mean of 9.87 ± 9.35 μmol/hr/liter (median: 8.06 μmol/hr/liter). GBA activities in ten adult patients with confirmed GD were less than 4.2 μmol/hr/liter and in seven infants and children with GD less than 1.24 μmol/hr/liter. This method is robust, sensitive, and suitable for high-throughput analysis of hundreds of samples. PMID:25042717

  7. Renal replacement therapy in Latin American end-stage renal disease.

    PubMed

    Rosa-Diez, Guillermo; Gonzalez-Bedat, Maria; Pecoits-Filho, Roberto; Marinovich, Sergio; Fernandez, Sdenka; Lugon, Jocemir; Poblete-Badal, Hugo; Elgueta-Miranda, Susana; Gomez, Rafael; Cerdas-Calderon, Manuel; Almaguer-Lopez, Miguel; Freire, Nelly; Leiva-Merino, Ricardo; Rodriguez, Gaspar; Luna-Guerra, Jorge; Bochicchio, Tomasso; Garcia-Garcia, Guillermo; Cano, Nuria; Iron, Norman; Cuero, Cesar; Cuevas, Dario; Tapia, Carlos; Cangiano, Jose; Rodriguez, Sandra; Gonzalez, Haydee; Duro-Garcia, Valter

    2014-08-01

    The Latin American Dialysis and Renal Transplant Registry (RLADTR) was founded in 1991; it collects data from 20 countries which are members of Sociedad Latinoamericana de Nefrología e Hipertension. This paper presents the results corresponding to the year 2010. This study is an annual survey requesting data on incident and prevalent patients undergoing renal replacement treatment (RRT) in all modalities: hemodialysis (HD), peritoneal dialysis (PD) and living with a functioning graft (LFG), etc. Prevalence and incidence were compared with previous years. The type of renal replacement therapy was analyzed, with special emphasis on PD and transplant (Tx). These variables were correlated with the gross national income (GNI) and the life expectancy at birth. Twenty countries participed in the surveys, covering 99% of the Latin American. The prevalence of end stage renal disease (ESRD) under RRT in Latin America (LA) increased from 119 patients per million population (pmp) in 1991 to 660 pmp in 2010 (HD 413 pmp, PD 135 pmp and LFG 111 pmp). HD proportionally increased more than PD, and Tx HD continues to be the treatment of choice in the region (75%). The kidney Tx rate increased from 3.7 pmp in 1987 to 6.9 pmp in 1991 and to 19.1 in 2010. The total number of Tx's in 2010 was 10 397, with 58% deceased donors. The total RRT prevalence correlated positively with GNI (r (2) 0.86; P < 0.05) and life expectancy at birth (r (2) 0.58; P < 0.05). The HD prevalence and the kidney Tx rate correlated significantly with the same indexes, whereas the PD rate showed no correlation with these variables. A tendency to rate stabilization/little growth was reported in the most regional countries. As in previous reports, the global incidence rate correlated significantly only with GNI (r (2) 0.63; P < 0.05). Diabetes remained the leading cause of ESRD. The most frequent causes of death were cardiovascular (45%) and infections (22%). Neoplasms accounted for 10% of the causes of death. The

  8. Renal replacement therapy in Latin American end-stage renal disease

    PubMed Central

    Rosa-Diez, Guillermo; Gonzalez-Bedat, Maria; Pecoits-Filho, Roberto; Marinovich, Sergio; Fernandez, Sdenka; Lugon, Jocemir; Poblete-Badal, Hugo; Elgueta-Miranda, Susana; Gomez, Rafael; Cerdas-Calderon, Manuel; Almaguer-Lopez, Miguel; Freire, Nelly; Leiva-Merino, Ricardo; Rodriguez, Gaspar; Luna-Guerra, Jorge; Bochicchio, Tomasso; Garcia-Garcia, Guillermo; Cano, Nuria; Iron, Norman; Cuero, Cesar; Cuevas, Dario; Tapia, Carlos; Cangiano, Jose; Rodriguez, Sandra; Gonzalez, Haydee; Duro-Garcia, Valter

    2014-01-01

    The Latin American Dialysis and Renal Transplant Registry (RLADTR) was founded in 1991; it collects data from 20 countries which are members of Sociedad Latinoamericana de Nefrología e Hipertension. This paper presents the results corresponding to the year 2010. This study is an annual survey requesting data on incident and prevalent patients undergoing renal replacement treatment (RRT) in all modalities: hemodialysis (HD), peritoneal dialysis (PD) and living with a functioning graft (LFG), etc. Prevalence and incidence were compared with previous years. The type of renal replacement therapy was analyzed, with special emphasis on PD and transplant (Tx). These variables were correlated with the gross national income (GNI) and the life expectancy at birth. Twenty countries participed in the surveys, covering 99% of the Latin American. The prevalence of end stage renal disease (ESRD) under RRT in Latin America (LA) increased from 119 patients per million population (pmp) in 1991 to 660 pmp in 2010 (HD 413 pmp, PD 135 pmp and LFG 111 pmp). HD proportionally increased more than PD, and Tx HD continues to be the treatment of choice in the region (75%). The kidney Tx rate increased from 3.7 pmp in 1987 to 6.9 pmp in 1991 and to 19.1 in 2010. The total number of Tx's in 2010 was 10 397, with 58% deceased donors. The total RRT prevalence correlated positively with GNI (r2 0.86; P < 0.05) and life expectancy at birth (r2 0.58; P < 0.05). The HD prevalence and the kidney Tx rate correlated significantly with the same indexes, whereas the PD rate showed no correlation with these variables. A tendency to rate stabilization/little growth was reported in the most regional countries. As in previous reports, the global incidence rate correlated significantly only with GNI (r2 0.63; P < 0.05). Diabetes remained the leading cause of ESRD. The most frequent causes of death were cardiovascular (45%) and infections (22%). Neoplasms accounted for 10% of the causes of death. The

  9. Obesity end stage renal disease and survival in an elderly cohort with cardiovascular disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Obesity is highly prevalent in African-Americans and is associated with increased risk of end stage renal disease (ESRD) and death. It is not known if the effect of obesity is similar among Blacks and whites. The aim of this study is to examine racial differences in the association of obesity with E...

  10. Genomic profiling of renal cell carcinoma in patients with end-stage renal disease.

    PubMed

    Inoue, Toru; Matsuura, Keiko; Yoshimoto, Taichiro; Nguyen, Lam Tung; Tsukamoto, Yoshiyuki; Nakada, Chisato; Hijiya, Naoki; Narimatsu, Takahiro; Nomura, Takeo; Sato, Fuminori; Nagashima, Yoji; Kashima, Kenji; Hatakeyama, Shingo; Ohyama, Chikara; Numakura, Kazuyuki; Habuchi, Tomonori; Nakagawa, Masayuki; Seto, Masao; Mimata, Hiromitsu; Moriyama, Masatsugu

    2012-03-01

    The purpose of the present study was to determine the genomic profile of renal cell carcinoma (RCC) in end-stage renal disease (ESRD) by analyzing genomic copy number aberrations. Seventy-nine tumor samples from 63 patients with RCC-ESRD were analyzed by array comparative genomic hybridization using the Agilent Whole Human Genome 4 × 44K Oligo Micro Array (Agilent Technologies Inc., Palo Alto, CA, USA). Unsupervised hierarchical clustering analysis revealed that the 63 cases could be divided into two groups, Clusters A and B. Cluster A was comprised mainly of clear cell RCC (CCRCC), whereas Cluster B was comprised mainly of papillary RCC (PRCC), acquired cystic disease (ACD)-associated RCC, and clear cell papillary RCC. Analysis of the averaged frequencies revealed that the genomic profiles of Clusters A and B resembled those of sporadic CCRCC and sporadic PRCC, respectively. Although it has been proposed on the basis of histopathology that ACD-associated RCC, clear cell papillary RCC and PRCC-ESRD are distinct subtypes, the present data reveal that the genomic profiles of these types, categorized as Cluster B, resemble one another. Furthermore, the genomic profiles of PRCC, ACD-associated RCC and clear cell papillary RCC admixed in one tissue tended to resemble one another. On the basis of genomic profiling of RCC-ESRD, we conclude that the molecular pathogenesis of CCRCC-ESRD resembles that of sporadic CCRCC. Although various histologic subtypes of non-clear cell RCC-ESRD have been proposed, their genomic profiles resemble those of sporadic PRCC, suggesting that the molecular pathogenesis of non-CCRCC-ESRD may be related to that of sporadic PRCC. PMID:22145865

  11. Overview: end-stage renal disease in the developing world.

    PubMed

    Barsoum, Rashad S

    2002-09-01

    Although the vast majority of patients with end-stage renal disease (ESRD) worldwide live in what is called the developing world, little is known about its epidemiology and management. With the current paucity of credible and adequately representative registries, it is justified to resort to innovative means of obtaining information. In this attempt, world-renowned leading nephrologists in 10 developing countries collaborated in filling a 103-item questionnaire addressing epidemiology, etiology, and management of ESRD in their respective countries on the basis of integrating available data from different sources. Through this joint effort, it was possible to identify a number of important trends. These include the expected high prevalence of ESRD, despite the limited access to renal replacement therapy, and the dependence of prevalence on wealth. Glomerulonephritis, rather than diabetes, remains as the main cause of ESRD with significant geographical variations in the prevailing histopathological types. The implementation of different modalities of renal replacement therapy (RRT) is inhibited by the lack of funding, although governments, insurance companies, and donations usually constitute the major sponsors. Hemodialysis is the preferred modality in most countries with the exception of Mexico where chronic ambulatory peritoneal dialysis (CAPD) takes the lead. In several other countries, dialysis is available only for those on the transplant waiting list. Dialysis is associated with a high frequency of complications particularly HBV and HCV infections. Data on HIV are lacking. Aluminum intoxication remains as a major problem in a number of countries. Treatment withdrawal is common for socioeconomic reasons. Transplantation is offered to an average of 4 per million population (pmp). Recipient exclusion criteria are minimal. Donor selection criteria are generally loose regarding tissue typing, remote viral infection, and, in some countries, blood-relation to the

  12. Mestizos with Systemic Lupus Erythematosus Develop Renal Disease Early while Antimalarials Retard its Appearance: Data from a Latin American Cohort

    PubMed Central

    Pons-Estel, Guillermo J.; Alarcón, Graciela S.; Burgos, Paula I.; Hachuel, Leticia; Boggio, Gabriela; Wojdyla, Daniel; Nieto, Romina; Alvarellos, Alejandro; Catoggio, Luis J.; Guibert-Toledano, Marlene; Sarano, Judith; Massardo, Loreto; Vásquez, Gloria M.; Iglesias-Gamarra, Antonio; Lavras Costallat, Lilian T.; Da Silva, Nilzio A.; Alfaro, José L.; Abadi, Isaac; Segami, María I.; Huerta, Guillermo; Cardiel, Mario H.; Pons-Estel, Bernardo A.

    2014-01-01

    Objectives To assess the predictors of time-to-lupus renal disease in Latin American patients. Methods SLE patients (n=1480) from GLADEL’s (Grupo Latino Americano De Estudio de Lupus) longitudinal inception cohort were studied. Endpoint was ACR renal criterion development after SLE diagnosis (prevalent cases excluded). Renal disease predictors were examined by univariable and multivariable Cox proportional hazards regression analyses. Antimalarials were considered time-dependent in alternative analyses. Results Of the entire cohort, 265 patients (17.9%) developed renal disease after entering the cohort. Of them, 88 (33.2%) developed persistent proteinuria, 44 (16.6%) cellular casts and 133 (50.2%) both; 233 patients (87.9%) were women; mean (± SD) age at diagnosis was 28.0 (11.9) years; 12.8% were African-Latin Americans, 52.5% Mestizos, 34.7% Caucasians (p=0.0016). Mestizo ethnicity (HR 1.61, 95% CI 1.19–2.17), hypertension (HR 3.99, 95% CI 3.02–5.26) and SLEDAI at diagnosis (HR 1.04, 95% CI 1.01–1.06) were associated with a shorter time-to-renal disease occurrence; antimalarial use (HR 0.57, 95% CI 0.43–0.77), older age at onset (HR 0.90, 95% CI 0.85–0.95, for every 5 years) and photosensitivity (HR 0.74, 95% CI 0.56–0.98) were associated with a longer time. Alternative model results were consistent with the antimalarial protective effect (HR 0.70, 95% CI 0.50–0.99). Conclusions Our data strongly support the fact that Mestizo patients are at increased risk of developing renal disease early while antimalarials seem to delay the appearance of this SLE manifestation. These data have important implications for the treatment of these patients regardless of their geographic location. PMID:23857989

  13. Noninvasive tool for the diagnosis of polyomavirus BK-associated nephropathy in renal transplant recipients.

    PubMed

    Huang, Gang; Chen, Wen-fang; Wang, Chang-xi; Fei, Ji-guang; Deng, Su-xiong; Qiu, Jiang; Chen, Li-zhong

    2013-03-01

    Noninvasive methods can facilitate early diagnosis of BK virus (BKV) replication and guide the evaluation of BKV-associated nephropathy (BKVAN). We developed 3 noninvasive methods for BKVAN screening including quantitative polymerase chain reaction (PCR) assay for BKV DNA load in urine and plasma, and quantitative assay of urine cytology by light microscopy or electron microscopy, and used these assays concurrently with renal transplant biopsies for the evaluation of 338 patients. BKVAN was diagnosed in 24 (7.1%) of 338 renal recipients. The median level of the 3 methods was the highest in pattern B of BKVAN (P < 0.05). Using these 3 methods for pattern B of BKVAN yielded a high sensitivity of 100%. Using decoy cells without quantitation had a sensitivity of 95.8% and a specificity of 83.1% for BKVAN. The amount of decoy cells in urine samples was related to BKV DNAuria, BKV DNAemia, and the pattern of BKVAN. Using a decoy cell threshold of >5 per 10 high-power fields (HPF) had an ideal sensitivity and specificity for high-risk BKVAN and BKVAN. Using a decoy cell threshold of >20 per 10 HPF for BKVAN had a specificity of 99.7%. Quantitative assay of urine cytology is a very convenient and sensitive method for diagnosis of BKVAN, which can be deemed as an additional diagnostic method for quantitative PCR screening with increased accuracy. PMID:23276771

  14. 77 FR 34047 - Medicare Program; Proposal Evaluation Criteria and Standards for End Stage Renal Disease (ESRD...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-08

    ... and Standards for End Stage Renal Disease (ESRD) Network Organizations AGENCY: Centers for Medicare... procedures we will use to evaluate an End-Stage Renal Disease (ESRD) Network Organization's capabilities to perform, and actual performance of, the duties and functions under the ESRD Network Statement of Work...

  15. Care of the Patient with Renal Disease: Peritoneal Dialysis and Transplants, Nursing 321A.

    ERIC Educational Resources Information Center

    Hulburd, Kimberly

    A description is provided of a course, "Care of the Patient with Renal Disease," offered at the community college level to prepare licensed registered nurses to care for patients with renal disease, including instruction in performing the treatments of peritoneal dialysis and continuous ambulatory peritoneal dialysis (CAPD). The first sections of…

  16. Transperitoneal laparoscopic right radical nephrectomy for renal cell carcinoma and end-stage renal disease: a case report

    PubMed Central

    2009-01-01

    Nephron-sparing surgery (partial nephrectomy) results are similar to those of radical nephrectomy for small (<4 cm) renal tumors. However, in patients with end-stage renal disease, radical nephrectomy emerges as a more efficient treatment for localized renal cell cancer. Laparoscopic radical nephrectomy (LRN) increasingly is being performed. The objective of the present study was to present a case of a patient under hemodialysis who was submitted to LRN for a small renal mass and discuss the current issues concerning this approach. It appears that radical nephrectomy should be the standard treatment in dialysis patients even for small tumors. The laparoscopic technique is associated with acceptable cancer-specific survival and recurrence rate along with shorter hospital stay, less postoperative pain and earlier return to normal activities. PMID:20062705

  17. Clinical potential of TCF21 methylation in the diagnosis of renal cell carcinoma

    PubMed Central

    Xin, Jun; Xu, Rong; Lin, Shaokun; Xin, Minghua; Cai, Wenjie; Zhou, Jin; Fu, Changde; Zhen, Guangfu; Lai, Jinjin; Li, Yue; Zhang, Pengfeng

    2016-01-01

    The aim of the present study was to investigate the clinical potential of transcription factor (TCF) 21 methylation in the diagnosis of renal cell carcinoma (RCC). TCF21 methylation levels were quantified in renal tissues (55 cases of RCC tissue and 22 cases of normal tissue) and urine samples (33 cases of urine samples with RCC and 15 cases of normal urine samples) using pyrosequencing. Spearman's rank correlation coefficient was used to investigate the correlation between TCF21 methylation levels and clinical parameters (gender, age, smoking history, Fuhrman grade and clinical stage). The receiver operating characteristic (ROC) curve was utilized to evaluate the accuracy of predictive diagnosis of RCC. TCF21 methylation levels were significantly increased in RCC samples compared with normal renal tissues and urine samples. The Spearman's correlation analysis revealed that the TCF21 methylation level was positively associated with age (P=0.002), smoking (P=0.017) and Fuhrman grade (P=0.045) in RCC tissues and was positively associated with tumor size (P<0.001), Fuhrman grade (P=0.017) and clinical stage (P=0.017) in urine samples. ROC curves revealed that the cut-off value, sensitivity and specificity were 23.61, 89.00 and 61.90%, respectively in tissue samples, and 26.84, 79 and 100%, respectively in urine samples. Furthermore, there were significant differences in the area under the curve between the tissue and urine samples (P=0.004). The results of the present study indicate that TCF21 may be used as a biomarker for diagnosing RCC, and TCF21 methylation levels in urine samples may be a useful means of diagnosing RCC.

  18. Long-term graft outcomes and patient survival are lower posttransplant in patients with a primary renal diagnosis of glomerulonephritis.

    PubMed

    Pruthi, Rishi; McClure, Mark; Casula, Anna; Roderick, Paul J; Fogarty, Damian; Harber, Mark; Ravanan, Rommel

    2016-04-01

    Glomerulonephritis (GN) is the primary diagnosis in 20% to 40% of patients receiving a renal transplant. Here we studied patient survival and graft outcomes in patients with GN transplanted in the UK. UK Renal Registry data were used to analyze patient survival and graft failure in incident transplant patients between 1997 to 2009 who had a diagnosis of primary GN, in comparison to patients transplanted with adult polycystic kidney disease (APKD) or diabetes. Multivariable regression analysis adjusted for age, sex, donor type, ethnicity, donor age, time on dialysis, human leukocyte antigen mismatch, cold ischemic time, and graft failure (for patient survival). Patients were followed up through December 2012. Of 4750 patients analyzed, 2975 had GN and 1775 APKD. Graft failure was significantly higher in membranoproliferative glomerulonephritis (MPGN) type II (hazard ratio: 3.5, confidence interval: 1.9-6.6), focal segmental glomerulosclerosis (2.4, 1.8-3.2), MPGN type I (2.3, 1.6-3.3), membranous nephropathy (2.0, 1.4-2.9), and IgA nephropathy (1.6, 1.3-2.0) compared to APKD. Survival was significantly reduced in patients with MPGN type II (4.7, 2.0-10.8), and those with lupus nephritis (1.8, 1.1-2.9). Overall graft failure for patients with GN was similar to those with diabetes. Thus, in comparison to outcomes in APKD, graft survival is significantly lower in most GNs, with variation in outcomes between different GNs. This information should assist in pretransplant counseling of patients. Further study is required to understand the reduced survival seen in lupus nephritis and MPGN type II, and to improve overall graft outcomes. PMID:26924061

  19. Renal disease in patients infected with hepatitis B virus.

    PubMed

    Jaryal, Ajay; Kumar, Vivek; Sharma, Vishal

    2015-01-01

    Infection with hepatitis B virus (HBV) can result in hepatic diseases which may include an asymptomatic non-replicative carrier state, immunotolerant phase characterized by high DNA levels without significant hepatic injury, immune-reactive phase characterized by occurrence of chronic hepatitis and fibrosis in the liver, or complications like cirrhosis or hepatocellular carcinoma. Extrahepatic manifestations may also accompany HBV infection. These may include serum sickness syndrome, polyarthralgia, polyarthritis, dermatologic manifestations like pitted keratolysis, urticaria, purpura, oral lichen planus or Gianotti-Crosti syndrome-a childhood papular eruption. Renal involvement may occur with HBV infection and usually involves glomerular or vascular injury. Various morphologic forms of renal injury have been reported with HBV infection, the commonest being membranous glomerulonephritis. The manifestations may include swelling over face and body, pedal edema, and urinary abnormalities. Evaluation may detect proteinuria, hematuria and reduction in estimated glomerular filtration rate (GFR). The management options include use of antiviral drugs targeting HBV infection with or without concomitant immunosuppressive medication. With availability of newer drugs like entecavir and tenofovir, these have become the first line agents as they have a high barrier to resistance. Sole use of immunosuppression is not recommended for lack of clear benefit and the possible risk of HBV reactivation or flare. PMID:27509699

  20. Diagnosis and Management of Alcoholic Liver Disease.

    PubMed

    Dugum, Mohannad; McCullough, Arthur

    2015-06-28

    Alcohol is a leading cause of liver disease and is associated with significant morbidity and mortality. Several factors, including the amount and duration of alcohol consumption, affect the development and progression of alcoholic liver disease (ALD). ALD represents a spectrum of liver pathology ranging from fatty change to fibrosis to cirrhosis. Early diagnosis of ALD is important to encourage alcohol abstinence, minimize the progression of liver fibrosis, and manage cirrhosis-related complications including hepatocellular carcinoma. A number of questionnaires and laboratory tests are available to screen for alcohol intake. Liver biopsy remains the gold-standard diagnostic tool for ALD, but noninvasive accurate alternatives, including a number of biochemical tests as well as liver stiffness measurement, are increasingly being utilized in the evaluation of patients with suspected ALD. The management of ALD depends largely on complete abstinence from alcohol. Supportive care should focus on treating alcohol withdrawal and providing enteral nutrition while managing the complications of liver failure. Alcoholic hepatitis (AH) is a devastating acute form of ALD that requires early recognition and specialized tertiary medical care. Assessment of AH severity using defined scoring systems is important to allocate resources and initiate appropriate therapy. Corticosteroids or pentoxifylline are commonly used in treating AH but provide a limited survival benefit. Liver transplantation represents the ultimate therapy for patients with alcoholic cirrhosis, with most transplant centers mandating a 6 month period of abstinence from alcohol before listing. Early liver transplantation is also emerging as a therapeutic measure in specifically selected patients with severe AH. A number of novel targeted therapies for ALD are currently being evaluated in clinical trials. PMID:26356792

  1. Diagnosis and Management of Alcoholic Liver Disease

    PubMed Central

    Dugum, Mohannad; McCullough, Arthur

    2015-01-01

    Alcohol is a leading cause of liver disease and is associated with significant morbidity and mortality. Several factors, including the amount and duration of alcohol consumption, affect the development and progression of alcoholic liver disease (ALD). ALD represents a spectrum of liver pathology ranging from fatty change to fibrosis to cirrhosis. Early diagnosis of ALD is important to encourage alcohol abstinence, minimize the progression of liver fibrosis, and manage cirrhosis-related complications including hepatocellular carcinoma. A number of questionnaires and laboratory tests are available to screen for alcohol intake. Liver biopsy remains the gold-standard diagnostic tool for ALD, but noninvasive accurate alternatives, including a number of biochemical tests as well as liver stiffness measurement, are increasingly being utilized in the evaluation of patients with suspected ALD. The management of ALD depends largely on complete abstinence from alcohol. Supportive care should focus on treating alcohol withdrawal and providing enteral nutrition while managing the complications of liver failure. Alcoholic hepatitis (AH) is a devastating acute form of ALD that requires early recognition and specialized tertiary medical care. Assessment of AH severity using defined scoring systems is important to allocate resources and initiate appropriate therapy. Corticosteroids or pentoxifylline are commonly used in treating AH but provide a limited survival benefit. Liver transplantation represents the ultimate therapy for patients with alcoholic cirrhosis, with most transplant centers mandating a 6 month period of abstinence from alcohol before listing. Early liver transplantation is also emerging as a therapeutic measure in specifically selected patients with severe AH. A number of novel targeted therapies for ALD are currently being evaluated in clinical trials. PMID:26356792

  2. Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease.

    PubMed

    Prejbisz, Aleksander; Sellin, Lorenz; Szwench-Pietrasz, Elżbieta; Woznowski, Magdalena; Michałowska, Ilona; Blondin, Dirk; Sajnaga, Dariusz; Epplen, Jorg T; Litwin, Mieczysław; Dekomien, Gabriele; Januszewicz, Magdalena; Helmchen, Udo; Matuszkiewicz-Rowińska, Joanna; Adamczak, Marcin; Więcek, Andrzej; Januszewicz, Andrzej; Rump, Lars C

    2015-07-01

    Hyperuricemia is very common in industrialized countries and known to promote vascular smooth muscle cell proliferation. Juvenile hyperuricemia is a hallmark of uromodulin-associated kidney disease characterized by progressive interstitial renal fibrosis leading to end-stage renal disease within decades. Here we describe a member of a Polish-German family with a history of familial background of chronic kidney disease, hyperuricemia, and gout. This patient had hypertension because of bilateral small renal arteries, hyperuricemia, and chronic kidney disease. Clinical and molecular studies were subsequently performed in 39 family members, which included a physical examination, Duplex ultrasound of the kidneys, laboratory tests for renal function, and urine analysis. In eight family members contrast-enhanced renal artery imaging by computed tomography-angiography or magnetic resonance imaging was conducted and showed that bilateral non-arteriosclerotic small caliber renal arteries were associated with hyperuricemia and chronic kidney disease. Of the 26 family members who underwent genotyping, 11 possessed the P236R mutation (c.707C>G) of the uromodulin gene. All family members with a small caliber renal artery carried the uromodulin P236R mutation. Statistical analysis showed a strong correlation between reduced renal artery lumen and decreased estimated glomerular filtration rate. Thus, bilateral small caliber renal arteries are a new clinical phenotype associated with an uromodulin mutation. PMID:25671765

  3. Developments in renal pharmacogenomics and applications in chronic kidney disease

    PubMed Central

    Padullés, Ariadna; Rama, Inés; Llaudó, Inés; Lloberas, Núria

    2014-01-01

    Chronic kidney disease (CKD) has shown an increasing prevalence in the last century. CKD encompasses a poor prognosis related to a remarkable number of comorbidities, and many patients suffer from this disease progression. Once the factors linked with CKD evolution are distinguished, it will be possible to provide and enhance a more intensive treatment to high-risk patients. In this review, we focus on the emerging markers that might be predictive or related to CKD progression physiopathology as well as those related to a different pattern of response to treatment, such as inhibitors of the renin–angiotensin system (including angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers; the vitamin D receptor agonist; salt sensitivity hypertension; and progressive kidney-disease markers with identified genetic polymorphisms). Candidate-gene association studies and genome-wide association studies have analyzed the genetic basis for common renal diseases, including CKD and related factors such as diabetes and hypertension. This review will, in brief, consider genotype-based pharmacotherapy, risk prediction, drug target recognition, and personalized treatments, and will mainly focus on findings in CKD patients. An improved understanding will smooth the progress of switching from classical clinical medicine to gene-based medicine. PMID:25206311

  4. End-stage renal disease in sub-Saharan Africa.

    PubMed

    Naicker, Saraladevi

    2009-01-01

    Chronic kidney disease is at least 3-4 times more frequent in Africa than in developed countries. Hypertension affects approximately 25% of the adult population and is the cause of chronic kidney failure in 21% of patients on renal replacement therapy in the South African Registry. The prevalence of diabetic nephropathy is estimated to be 14%-16% in South Africa, 23.8% in Zambia, 12.4% in Egypt, 9% in Sudan, and 6.1% in Ethiopia. The current dialysis treatment rate ranges from 70 per million population (pmp) in South Africa to < 20 pmp in the most of sub-Saharan Africa. The transplant rate in Africa averages 4 pmp and is 9.2 pmp in South Africa. The goal for sub-Saharan Africa should be to have a circumscribed chronic dialysis program, with as short a time on dialysis as possible, and to increase the availability of transplantation (both living related and cadaver) and promotion of prevention strategies at all levels of health care. Screening for kidney disease in high-risk populations, eg, patients with hypertension and diabetes mellitus and a family history of kidney disease, should be instituted as the first step in kidney disease prevention in developing countries. PMID:19484867

  5. Rare diseases with renal involvement in the Republic of Macedonia.

    PubMed

    Tasic, V; Lozanovski, V J; Danilovski, D; Laban, N; Pop-Jordanova, N; Polenakovic, M; Gucev, Z S

    2011-01-01

    Rare diseases (RDs) pose a significant set of problems for patients, since their disease and general social and health situation are often not recognized by the medical community and shunned by health insurance. The sheer number of RDs (5000-8000) and the number of patients (6-8% of the population) are challenging for every society. We wanted to get a better understanding of the rare diseases affecting the kidneys and urinary tract (RDAKUT) in the Republic of Macedonia and we investigated principally the PubMed Central articles of Macedonian medical professionals dealing with RDAKUT, but we also used information on RDAKUT from local sources. A significant number of RDs have been published, demonstrating the awareness and skill of Macedonian medical professionals despite pretty limited diagnostic facilities. We still feel that RDAKUT are underdiagnosed (e.g. Fabry's disease has not yet been reported), and that many patients with RDs have a long way to go before an accurate diagnosis. Increased awareness and ameliorated education are needed by the physicians; while health insurance must include RDAKUT covering their diagnosis and treatment costs. Neonatal screening for ~30 diseases (instead of just hypothyroidism) is also required. Patients' organizations exist and they are active in promoting their interests before of the health authorities. PMID:21822178

  6. Clinical Scenarios in Chronic Kidney Disease: Kidneys' Structural Changes in End-Stage Renal Disease.

    PubMed

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

    Acquired cystic kidney disease (ACKD) and renal cell carcinoma (RCC) are the most important manifestations of end-stage kidneys' structural changes. ACKD is caused by kidney damage or scarring and it is characterized by the presence of small, multiple cortical and medullary cysts filled with a fluid similar to preurine. ACKD prevalence varies according to predialysis and dialysis age and its pathogenesis is unknown, although it is stated that progressive destruction of renal tissue induces hypertrophy/compensatory hyperplasia of residual nephrons and may trigger the degenerative process. ACKD is almost asymptomatic, but it can lead to several complications (bleeding, rupture, infections, RCC). Ultrasound (US) is the first level imaging technique in ACKD, because of its sensitivity and reliability. The most serious complication of ACKD is RCC, which is stimulated by the same growth factors and proto-oncogenes that lead to the genesis of cysts. Two different histological types of RCC have been identified: (1) RCC associated with ACKD and (2) papillary renal clear cell carcinoma. Tumors in end-stage kidneys are mainly small, multifocal and bilateral, with a papillary structure and a low degree of malignancy. At US, RCC appears as a small inhomogeneous nodule (<3 cm), clearly outlined from the renal profile and hypoechoic if compared with sclerotic parenchyma. In some cases, tumor appears as a homogeneous and hyperechoic multifocal mass. The most specific US sign of a small tumor in end-stage kidney is the important arterial vascularization, in contrast with renal parenchymal vascular sclerosis. PMID:27169876

  7. Renal scintigraphy following angiotensin converting enzyme inhibition in the diagnosis of renovascular hypertension (captopril scintigraphy)

    SciTech Connect

    Sfakianakis, G.N. )

    1989-09-01

    This article describes the pathophysiology and primary causes of renovascular hypertension (RVH). No historical or physical finding is specific in the diagnosis of RVH, although onset of hypertension before the age of 30 years may suggest the possible presence of RVH. The physiology of the kidney is described along with the biochemistry of angiotensin converting enzyme inhibitors. The main thrust of the article is nuclear medicine techniques useful in the diagnosis of this disease. Several diagnositic methods are described but captopril scintigraphy is presented as a method that may give more optimal results in the diagnosis of RVH.

  8. Cardiac Metastases of Renal Cell Carcinoma Revealed by Syncope: Diagnosis and Treatment

    PubMed Central

    Bazine, Aziz; Fetohi, Mohamed; Tanz, Rachid; Mahfoud, Tarik; Ichou, Mohamed; Errihani, Hassan

    2014-01-01

    Abstract Introduction Cardiac metastases from renal cell carcinoma are very rare. In this report, we describe a case of ventricular metastases in the absence of vena cava or right atrial involvement. Case Report We report the case of a 60-year-old man who had a past history of heavy tobacco intake and well-controlled arterial hypertension. He experienced sudden-onset palpitations, lost consciousness and, as a result, was involved in an accident on the public highway. Cardiac arrhythmia was suspected and, therefore, transthoracic echocardiography was suggested, which revealed a large right ventricular mass. Chest and abdominal computed tomography demonstrated a mass in the right ventricle, but without contiguous vena cava involvement, and a right renal mass related to the probable neoplasm. An ultrasound-guided renal biopsy showed a clear-cell renal cell carcinoma. A bone scan revealed a metastatic bone disease. The patient was started on sunitinib treatment, which was well tolerated. However, approximately 8 months later, reevaluation showed pulmonary metastases. The patient was subsequently started on treatment with everolimus, which, however, was poorly tolerated. Two months later, the patient died due to terminal respiratory insufficiency. Discussion Based on the literature and our observations in this case, targeted antiangiogenic therapy should be considered as a viable therapeutic alternative to metastasectomy for patients with inoperable cardiac metastatic disease as long as there is no baseline systolic or diastolic dysfunction. The case also emphasizes the importance of a thorough history review and physical examination in the workup of patients with syncope. PMID:25232327

  9. Pax genes in renal development, disease and regeneration.

    PubMed

    Sharma, Richa; Sanchez-Ferras, Oraly; Bouchard, Maxime

    2015-08-01

    The execution of developmental programs entails specific spatio-temporal expression of transcriptional regulators that ultimately control tissue morphogenesis and embryo patterning. Pax transcription factors are sequence-specific DNA-binding proteins exerting such regulatory activity in several tissues. In the urogenital system, Pax2 and Pax8 have emerged as crucial players at multiple steps of kidney and urinary tract development. They are involved in important processes such as cell survival, cell lineage decisions and tissue interactions through the regulation of sophisticated gene regulatory networks. Pax2/8 have additionally been directly associated with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and renal cancers in human. In this review, we provide an overview of landmark contributions to the understanding of Pax gene function in urinary tract development and disease with an emphasis on recent advances in the field. PMID:26410163

  10. CT appearance of acute inflammatory disease of the renal interstitium

    SciTech Connect

    Gold, R.P.; McClennan, B.L.; Rottenberg, R.R.

    1983-08-01

    Today, infection remains the most common disease of the urinary tract and constitutes almost 75% of patient problems requiring urologic evaluation. There have been several major factors responsible for our better understanding of the nature and pathophysiology of urinary tract infection. One has been quantitated urine bacteriology and another, the discovery that a significant part of the apparently healthy adult female population has asymptomatic bacteriuria. Abnormal conditions such as neurogenic bladder, bladder malignancy, prolonged catheter drainage and reflux, altered host resistance, diabetes mellitus, and urinary tract obstruction, as well as pregnancy, may either predispose to or be implicated in the pathogenesis of urinary tract infection. There is a wide range of conditions that result in acute renal inflammation and those under discussion affect primarily the interstitium. This term refers to the connective tissue elements separating the tubules in the cortex and medulla. Hence, the interstitial nephritides are to be distinguished from the glomerulonephritides and fall into two general etiologic categories: infectious and noninfectious.

  11. Primary hyperaldosteronism, a mediator of progressive renal disease in cats.

    PubMed

    Javadi, S; Djajadiningrat-Laanen, S C; Kooistra, H S; van Dongen, A M; Voorhout, G; van Sluijs, F J; van den Ingh, T S G A M; Boer, W H; Rijnberk, A

    2005-01-01

    In recent years, there has been renewed interest in primary hyperaldosteronism, particularly because of its possible role in the progression of kidney disease. While most studies have concerned humans and experimental animal models, we here report on the occurrence of a spontaneous form of (non-tumorous) primary hyperaldosteronism in cats. At presentation, the main physical features of 11 elderly cats were hypokalemic paroxysmal flaccid paresis and loss of vision due to retinal detachment with hemorrhages. Primary hyperaldosteronism was diagnosed on the basis of plasma concentrations of aldosterone (PAC) and plasma renin activity (PRA), and the calculation of the PAC:PRA ratio. In all animals, PACs were at the upper end or higher than the reference range. The PRAs were at the lower end of the reference range, and the PAC:PRA ratios exceeded the reference range. Diagnostic imaging by ultrasonography and computed tomography revealed no or only very minor changes in the adrenals compatible with nodular hyperplasia. Adrenal gland histopathology revealed extensive micronodular hyperplasia extending from zona glomerulosa into the zona fasciculata and reticularis. In three cats, plasma urea and creatinine concentrations were normal when hyperaldosteronism was diagnosed but thereafter increased to above the upper limit of the respective reference range. In the other eight cats, urea and creatinine concentrations were raised at first examination and gradually further increased. Even in end-stage renal insufficiency, there was a tendency to hypophosphatemia rather than to hyperphosphatemia. The histopathological changes in the kidneys mimicked those of humans with hyperaldosteronism: hyaline arteriolar sclerosis, glomerular sclerosis, tubular atrophy and interstitial fibrosis. The non-tumorous form of primary hyperaldosteronism in cats has many similarities with "idiopathic" primary hyperaldosteronism in humans. The condition is associated with progressive renal disease

  12. Routine and specialized laboratory testing for the diagnosis of neuromuscular diseases in dogs and cats.

    PubMed

    Shelton, G Diane

    2010-09-01

    The diagnosis of neuromuscular diseases can be challenging. The first step is recognition that the disease involves the neuromuscular system (muscle, neuromuscular junction, peripheral nerve, and ventral horn cells of the spinal cord). Many neuromuscular diseases share clinical signs and cannot be distinguished based on clinical examination. Routine laboratory screening, including a CBC, biochemical profile, and urinalysis, can identify some of the most common systemic abnormalities that cause muscle weakness and myalgia, such as hypo- and hyperglycemia, electrolyte disorders, or thyroid abnormalities, and may suggest a specific diagnosis, such as diabetes mellitus, hypo- or hyperadrenocorticism, renal failure, or hypothyroidism. Increased creatine kinase activity, increased cardiac troponin I concentration, and myoglobinuria are useful in detecting skeletal and cardiac muscle damage. Identification of acetylcholine receptor antibodies is diagnostic for acquired myasthenia gravis. For primary muscle or peripheral nerve diseases, tissue biopsy is the most direct way to determine specific pathology, correctly classify the disease, and determine the course of additional laboratory testing. For example, inflammatory, necrotizing, dystrophic, metabolic, or congenital myopathies require different laboratory testing procedures for further characterization. Many neuromuscular diseases are inherited or breed-associated, and DNA-based tests may already be established or may be feasible to develop after the disorder has been accurately characterized. This review focuses on both routine and specialized laboratory testing necessary to reach a definitive diagnosis and determine an accurate prognosis for neuromuscular diseases. PMID:20726955

  13. Renal infarct: a rare disease due to a rare etiology

    PubMed Central

    Akshintala, Divya; Bansal, Saurabh K.; Emani, Vamsi Krishna; Yadav, Manajyoti

    2015-01-01

    Renal infarction is caused by profound hypoperfusion secondary to embolic/thrombotic occlusion of the renal artery or vasospasm of the renal artery. We present a case of a 54-year-old patient who presented with nausea, vomiting, and vague abdominal pain. He had frequent episodes of migraine headaches and he treated himself with as needed rizatriptan. CT scan of the abdomen showed renal cortical infarction. After extensive investigations, etiology of his renal infarct was deemed to be due to rizatriptan. PMID:26091657

  14. [Diabetic renal disease: the World Kidney Day in Chile].

    PubMed

    Ardiles, Leopoldo; Mezzano, Sergio

    2010-04-01

    The third version of the World Kidney Day will be held on May 13, 2010 in Chile and will be focused in diabetic renal damage, the main cause of chronic kidney disease (CKD). Currently, we are living a pandemic of CKD, a progressive and irreversible condition with high social and economic impact. In Chile, we have 857 patients per million inhabitants in hemodialysis and 35% are secondary to diabetes. Our general prevalence of diabetes is 4.2%, rising to 15% in people aged more than 64 years. With a 34% prevalence of hypertension, an aging population, high prevalence of obesity, and a sedentary lifestyle, there is an estimation of a rise in 85% of the prevalence of diabetes in South-America, for the next decades. The steps to be taken are clear: campaigns should be aimed at (1) prevention of type 2 diabetes; (2) screening for early diabetic kidney disease; (3) increasing patient awareness of kidney disease; (4) using medications of proven strategy and finally (5) research on new therapies. These concepts must be included in community and professional education to reduce the effects of this pandemic. PMID:20668785

  15. Nutrition in the critical care settings of renal diseases.

    PubMed

    Moore, L W; Acchiardo, S R; Smith, S O; Gaber, A O

    1996-07-01

    Acute catabolic events during the course of renal dysfunction lead to exacerbation of nutritional abnormalities often present in these patients. Whether the renal failure is acute or chronic, the nutritional management of these patients is extremely challenging. Traditional methods of nutritional assessment must be extrapolated to include the effects of the renal dysfunction and renal replacement therapy being used. Cases of patients with acute renal failure, chronic renal failure with an acute insult, pancreas-kidney transplant recipient with delayed graft function, and a liver transplant recipient who developed renal failure are reviewed with emphasis on the nutritional management during the course of illness. Monitoring techniques are reviewed, and comparisons are made to other nutrition support protocols. PMID:8827206

  16. Changes in Renal Function and Blood Pressure in Patients with Stone Disease

    NASA Astrophysics Data System (ADS)

    Worcester, Elaine M.

    2007-04-01

    Stone disease is a rare cause of renal failure, but a history of kidney stones is associated with an increased risk for chronic kidney disease, particularly in overweight patients. Loss of renal function seems especially notable for patients with stones associated with cystinuria, hyperoxaluria, and renal tubular acidosis, in whom the renal pathology shows deposits of mineral obstructing inner medullary collecting ducts, often diffusely. However, even idiopathic calcium oxalate stone formers have a mild but significant decrease in renal function, compared to age, sex and weight-matched normals, and appear to lose renal function with age at a slightly faster rate than non-stone formers. There is also an increased incidence of hypertension among stone formers, although women are more likely to be affected than men.

  17. The knowledge, awareness, and acceptability of renal transplantation among patients with end-stage renal disease in Ibadan, Nigeria.

    PubMed

    Takure, A O; Jinadu, Y O; Adebayo, S A; Shittu, O B; Salako, B L; Kadiri, S

    2016-01-01

    Renal transplantation is well established in the USA, Europe, India, and South Africa. However, it is still in its infancy in Nigeria. The objective of our study is to determine the knowledge, awareness, and acceptability of renal transplant among patients with end-stage renal disease (ESRD) and the factors which are responsible for the low level of transplantation in Ibadan, Nigeria. A 15-item pilot-tested questionnaire was administered to willing patients with ESRD seen at the medical outpatient clinic of the University Teaching Hospital, from January to December 2011. There was 81% participation rate of the respondents. Exactly 90.1% had formal education and 44% earned <50,000 naira per month. Seventy-nine percent of respondents was aware of renal transplantation, 70.4% would recommend it to others, and 66.7% accepted renal transplantation; 77.8% would maintain a close relationship with their donors. About 61.7% considered it very expensive, while 33.3% did not know the cost for transplantation. Of the reason for the low level of kidney transplantation in Nigeria, 39.5% had no idea and in 27.2% of the respondents, the fear of death by potential donors may be responsible. Eleven percent of responded that recipients had no money for kidney transplantation and another 11% thought the potential donors would like to be paid for donating their kidneys. Most of the respondents with ESRD were knowledgeable, aware of, and accepted renal transplantation as the next step to treat chronic renal failure. However, majority of these patients could not afford the cost for renal transplantation. PMID:27424696

  18. Diagnosis of Alcoholic Liver Disease: Key Foundations and New Developments.

    PubMed

    Childers, Ryan E; Ahn, Joseph

    2016-08-01

    Alcoholic liver disease is a spectrum of conditions that include alcoholic fatty liver disease, alcoholic hepatitis, and chronic alcoholic liver disease. The diagnosis of alcoholic liver disease remains founded in an accurate patient history and detailed physical examination. Concurrent with the physical examination, objective data from laboratory, imaging, and histologic studies are helpful to confirm a diagnosis of alcoholic liver disease. Novel biomarkers, scoring systems, and imaging modalities are improving the ability to diagnose and manage alcoholic liver disease, but for most practicing clinicians, these have not been adopted widely because of their cost, but also because of limitations and uncertainty in their performance characteristics. PMID:27373609

  19. Pulmonary nuclear medicine: Techniques in diagnosis of lung disease

    SciTech Connect

    Atkins, H.L.

    1984-01-01

    This book presents papers on the application of nuclear medicine to the diagnosis of lung diseases. Topics considered include lung physiology and anatomy, radiopharmaceuticals in pulmonary medicine, pulmonary embolism, obstructive pulmonary disease, diffuse infiltrative lung disease, pneumoconioses, tumor localization scans in primary lung tumors, the interactions of heart diseases and lung diseases on radionuclide tests of lung anatomy and function, radionuclide imaging in pediatric lung diseases, and future possibilities in pulmonary nuclear medicine.

  20. Spectroscopy techniques for human disease diagnosis

    NASA Astrophysics Data System (ADS)

    Navas-Moreno, Maria

    2011-12-01

    Modern medicine would benefit from the pursuit of new, more specific and easier to implement diagnosis tools. In recent years, Raman scattering, surface-enhanced Raman scattering and fluorescence spectroscopy have proven to be successful diagnostic techniques for a wide range of diseases including atherosclerosis, kidney stones, bone diseases, diabetes, and a wide collection of neoplasms. Optical spectroscopy has several advantages over more traditional diagnostic methods (i.e., histopathology, quantitative PCR, etc.) such as faster data analysis, nonspecific sample preparation, nonspecific labels/reagents/antibodies usage requirements, and immediate on-site implementation. In the present work, label-free in vitro fluorescence and surface enhanced Raman scattering (SERS) spectroscopy have been used to differentiate between blood cells of patients affected with myeloproliferative neoplasms (MPN) and those of healthy subjects. The SERS technique has also been applied to hemoglobin variants as well as to serum obtained from patients affected with chronic heart failure who positively or negatively responded to the seasonal influenza vaccine. We found that spectral ratios of the background fluorescence intensity that accompanies the SERS spectra of granulocytes serve as excellent markers for the presence of MPNs. In addition, we also found expression dysregulation of two hypoxia induced factor regulated genes, which correlates with our results obtained by SERS spectroscopy assay in MPN patients and supports the presence of the Warburg effect in MPNs. We hypothesize that SERS measures metabolic change in granulocytes through two possible mechanisms: (i) Changes in dielectric properties of the environment surrounding the silver-cell interface; and (ii) changes in flavin adenine dinucleotide concentrations, which in turn changes the relative contribution of the autofluorescence to the emission spectrum. These hypotheses are supported by SERS measurement of 2-deoxy

  1. Renal disease and hypertension in non-insulin-dependent diabetes mellitus.

    PubMed

    Ismail, N; Becker, B; Strzelczyk, P; Ritz, E

    1999-01-01

    Recent epidemiologic data demonstrate a dramatic increase in the incidence of end-stage renal disease (ESRD) in patients with non-insulin-dependent diabetes mellitus (NIDDM), thus dispelling the mistaken belief that renal prognosis is benign in NIDDM. Currently, the leading cause of ESRD in the United States, Japan, and in most industrialized Europe is NIDDM, accounting for nearly 90% of all cases of diabetes. In addition to profound economic costs, patients with NIDDM and diabetic nephropathy have a dramatically increased morbidity and premature mortality. NIDDM-related nephropathy varies widely among racial and ethnic groups, genders and lifestyles; and gender may interact with race to affect the disease progression. While the course of insulin-dependent diabetes mellitus (IDDM) progresses through well-defined stages, the natural history of NIDDM is less well characterized. NIDDM patients with coronary heart disease have a higher urinary albumin excretion rate at the time of diagnosis and follow-up. This greater risk may also be associated with hypertension and hyperlipidemia, and genes involved in blood pressure are obvious candidate genes for diabetic nephropathy. Hyperglycemia appears to be an important factor in the development of proteinuria in NIDDM, but its role and the influence of diet are not yet clear. Tobacco smoking can also be deleterious to the diabetic patient, and is also associated with disease progression. Maintaining euglycemia, stopping smoking and controlling blood pressure may prevent or slow the progression of NIDDM-related nephropathy and reduce extrarenal injury. Treatment recommendations include early screening for hyperlipidemia, appropriate exercise and a healthy diet. Cornerstones of management should also include: (1) educating the medical community and more widely disseminating data supporting the value of early treatment of microalbuminuria; (2) developing a comprehensive, multidisciplinary team approach that involves physicians

  2. Ramadan fasting and patients with renal diseases: A mini review of the literature.

    PubMed

    Emami-Naini, Afsoon; Roomizadeh, Peyman; Baradaran, Azar; Abedini, Amin; Abtahi, Mohammad

    2013-08-01

    Fasting during the month of Ramadan is one of the five pillars of Islam. During this month, adult Muslims are obligated to refrain from eating and drinking from dawn to dusk. Although based on Islamic principles patients are exempted from fasting, each year, many Muslim patients express their willingness to observe the fast in Ramadan month to respect the cultural customs. There are concerns about the impact of fluid restriction and dehydration during Ramadan fasting for patients with renal diseases. In this study, we reviewed the PubMed, Google Scholar, EBSCO, SCIRUS, Embase, and DOAJ data sources to identify the published studies on the impact of Ramadan fasting on patients with renal diseases. Our review on published reports on renal transplant recipients revealed no injurious effect of Ramadan fasting for the renal graft function. Nearly all studies on this topic suggest that Ramadan fasting is safe when the function of the renal graft is acceptable and stable. Regarding the impact of Ramadan fasting on patients with chronic kidney disease, there is concern about the role of renal hypoperfusion in developing tubular cell injury. Finally, there is controversy between studies about the risk of dehydration in Ramadan in developing renal stones. There are uncertainties about the change in the incidence of renal colic in Ramadan month compared with the other periods of the year. Despite such discrepancies, nearly all studies are in agreement on consuming adequate amounts of water from dusk to dawn to reduce the risk of renal stone formation. PMID:24379850

  3. Image-based retrieval system and computer-aided diagnosis system for renal cortical scintigraphy images

    NASA Astrophysics Data System (ADS)

    Mumcuoğlu, Erkan; Nar, Fatih; Uğur, Omer; Bozkurt, M. Fani; Aslan, Mehmet

    2008-03-01

    Cortical renal (kidney) scintigraphy images are 2D images (256x256) acquired in three projection angles (posterior, right-posterior-oblique and left-posterior-oblique). These images are used by nuclear medicine specialists to examine the functional morphology of kidney parenchyma. The main visual features examined in reading the images are: size, location, shape and activity distribution (pixel intensity distribution within the boundary of each kidney). Among the above features, activity distribution (in finding scars if any) was found to have the least interobserver reproducibility. Therefore, in this study, we developed an image-based retrieval (IBR) and a computer-based diagnosis (CAD) system, focused on this feature in particular. The developed IBR and CAD algorithms start with automatic segmentation, boundary and landmark detection. Then, shape and activity distribution features are computed. Activity distribution feature is obtained using the acquired image and image set statistics of the normal patients. Active Shape Model (ASM) technique is used for more accurate kidney segmentation. In the training step of ASM, normal patient images are used. Retrieval performance is evaluated by calculating precision and recall. CAD performance is evaluated by specificity and sensitivity. To our knowledge, this paper is the first IBR or CAD system reported in the literature on renal cortical scintigraphy images.

  4. SPECT- and PET-Based Approaches for Noninvasive Diagnosis of Acute Renal Allograft Rejection

    PubMed Central

    Pawelski, Helga; Schnöckel, Uta; Kentrup, Dominik; Grabner, Alexander; Schäfers, Michael; Reuter, Stefan

    2014-01-01

    Molecular imaging techniques such as single photon emission computed tomography (SPECT) or positron emission tomography are promising tools for noninvasive diagnosis of acute allograft rejection (AR). Given the importance of renal transplantation and the limitation of available donors, detailed analysis of factors that affect transplant survival is important. Episodes of acute allograft rejection are a negative prognostic factor for long-term graft survival. Invasive core needle biopsies are still the “goldstandard” in rejection diagnostics. Nevertheless, they are cumbersome to the patient and carry the risk of significant graft injury. Notably, they cannot be performed on patients taking anticoagulant drugs. Therefore, a noninvasive tool assessing the whole organ for specific and fast detection of acute allograft rejection is desirable. We herein review SPECT- and PET-based approaches for noninvasive molecular imaging-based diagnostics of acute transplant rejection. PMID:24804257

  5. Proteomics for rejection diagnosis in renal transplant patients: Where are we now?

    PubMed Central

    Gwinner, Wilfried; Metzger, Jochen; Husi, Holger; Marx, David

    2016-01-01

    Rejection is one of the key factors that determine the long-term allograft function and survival in renal transplant patients. Reliable and timely diagnosis is important to treat rejection as early as possible. Allograft biopsies are not suitable for continuous monitoring of rejection. Thus, there is an unmet need for non-invasive methods to diagnose acute and chronic rejection. Proteomics in urine and blood samples has been explored for this purpose in 29 studies conducted since 2003. This review describes the different proteomic approaches and summarizes the results from the studies that examined proteomics for the rejection diagnoses. The potential limitations and open questions in establishing proteomic markers for rejection are discussed, including ongoing trials and future challenges to this topic. PMID:27011903

  6. Proteomics for rejection diagnosis in renal transplant patients: Where are we now?

    PubMed

    Gwinner, Wilfried; Metzger, Jochen; Husi, Holger; Marx, David

    2016-03-24

    Rejection is one of the key factors that determine the long-term allograft function and survival in renal transplant patients. Reliable and timely diagnosis is important to treat rejection as early as possible. Allograft biopsies are not suitable for continuous monitoring of rejection. Thus, there is an unmet need for non-invasive methods to diagnose acute and chronic rejection. Proteomics in urine and blood samples has been explored for this purpose in 29 studies conducted since 2003. This review describes the different proteomic approaches and summarizes the results from the studies that examined proteomics for the rejection diagnoses. The potential limitations and open questions in establishing proteomic markers for rejection are discussed, including ongoing trials and future challenges to this topic. PMID:27011903

  7. Sevelamer carbonate experience in Indian end stage renal disease patients

    PubMed Central

    Abraham, G.; Kher, V.; Saxena, S.; Jayakumar, M.; Chafekar, D.; Pargaonkar, P.; Shetty, M.; Reddy, Y. N. V.; Reddy, Y. N. V.

    2012-01-01

    This open label, multicentric, comparative clinical trial was done to compare the efficacy and tolerability of two sevelamer formulations, sevelamer carbonate, and sevelamer hydrochloride, in the treatment of hyperphosphatemia in Indian end stage renal disease (ESRD) patients. A total of 97 ESRD patients on hemodialysis, were enrolled. Patients were randomized to receive either sevelamer carbonate or sevelamer hydrochloride. All patients were evaluated every week for 6 weeks for efficacy and safety variables. Total 88 patients completed the study. After 6 weeks of therapy, there were similar reductions (P<0.0001) in mean serum phosphorus and the CaxP product both the groups. The responder rates for test and reference groups were 75%, 68.18% respectively (P=0.3474). The adverse events reported were nausea, abdominal pain/discomfort, heartburn, constipation, diarrhea, increased prothrombin time, and severe arthritis. No serious adverse events were reported. There was no significant difference between the groups for adverse events and the laboratory parameters. From the results of this multicentric, comparative, randomized clinical study on sevelamer carbonate we can recommend that sevelamer carbonate may be used as a phosphate binder in Indian chronic kidney disease patients. PMID:23087553

  8. Capillary rarefaction, hypoxia, VEGF and angiogenesis in chronic renal disease

    PubMed Central

    Mayer, Gert

    2011-01-01

    Tubulointerstitial hypoxia and peritubular capillary rarefaction are typical features of chronic progressive renal disease. In response to low oxygen supply, hypoxia-inducible factors (HIFs) are activated but until now, it is unclear if this increased expression leads to a stabilization of the disease process and thus is nephroprotective or contributes to interstitial fibrosis and/or tubular atrophy. This duality has also been described as far as vascular endothelial growth factor (VEGF), one of the major target genes of HIFs, is concerned. On the one hand, neoangiogenesis driven by VEGF, if intact, ameliorates hypoxia, on the other, VEGF is a potent pro-inflammatory mediator and neoangiogenesis, if defective because interference by other pathologies exaggerates injury. In summary, experimental data support the idea that dependent on timing and predominant pathology, hypoxia counter-regulatory factors exert beneficial or undesirable effects. Thus, before their therapeutic potential can be fully explored, a better way to characterize the clinical and pathophysiological situation in an individual patient is mandatory. PMID:21330358

  9. Renal replacement therapy in geriatric end-stage renal disease patients: a clinical approach.

    PubMed

    Kooman, Jeroen P; Cornelis, Tom; van der Sande, Frank M; Leunissen, Karel M L

    2012-01-01

    The number of geriatric patients on dialysis is increasing. This is due to demographic factors, a wider acceptance of elderly patients on dialysis, and an earlier start of dialysis in this patient group. Recent studies have questioned the effect of dialysis on quality of life in elderly patients with severe comorbidity and showed limited survival in this specific patient group. Therefore, the decision whether or not to start dialysis may be a difficult one for both the clinician and patient. Risk scores can be of help in facilitating shared decision making, but not as a tool to withhold dialysis. However, in the elderly patient with severe comorbidity, conservative care can sometimes be a reasonable alternative to dialysis. In the process of shared decision making, a balance should be pursued between life expectancy and quality of life. If the decision to initiate dialysis is taken, choices have to be made regarding dialysis modality and treatment prescription. If adequate support is provided, assisted peritoneal dialysis can be an acceptable alternative to hemodialysis. Care for the elderly with end-stage renal disease should be undertaken by a multidisciplinary team with special dedication to a multidimensional approach in this population. PMID:22269680

  10. Radiation-induced renal disease. A clinicopathologic study.

    PubMed

    Keane, W F; Crosson, J T; Staley, N A; Anderson, W R; Shapiro, F L

    1976-01-01

    Radiation injury to the renal parenchyma is an unusual cause of renal insufficiency. Light, immunofluorescence and electron microscopic studies were performed on the renal tissue from two patients in whom renal insufficiency developed within a year after they received abdominal irradiation. The glomerular lesion in both patients was similar. Mild endothelial cell swelling and basement membrane splitting were noted consistently on light microscopy. The electron microscopic examination revealed marked subendothelial expansion with electron-lucent material associated with deposition of basement membrane-like material adjacent to the endothelial cells. In some capillary loops, the endothelial cell lining appeared to be completely lost. The pathogenesis of radiation-induced renal injury is still uncertain. It is speculated that local activation of the coagulation system with consequent thrombosis of the renal microvasculature may be extremely important. PMID:1251842

  11. Plasmapheresis in overall treatment of renal immune diseases.

    PubMed

    Dzhavad-Zade, M D; Agaev, M M; Feldman, V M

    1989-01-01

    Polymorphism of the clinical picture manifested in pregnancy induced nephropathies necessitates the development of special immune methods of diagnosis, prevention and overall treatment. The changes in cellular and humoral immunity disclosed in this group of patients may serve as a starting point for elucidating the mechanism underlying pathogenesis of the disease and complications. Complex therapy, including medicinal preparations, dietotherapy and plasmapheresis contributes to normalizing the clinical course of pregnancy, correcting the immunologic status and decreasing the incidence of complications in the postpartum period. PMID:2819256

  12. Antenatal diagnosis of renal duplication by ultrasonography: report on four cases at a referral center.

    PubMed

    Queiroga, Edward Enéas D; Martins, Marília G; Rios, Lívia T; Araujo Júnior, Edward; Oliveira, Ricardo V; Nardozza, Luciano M; Moron, Antonio F

    2013-01-01

    Duplication of the renal collecting system is the commonest major congenital malformation of the urinary tract, with an incidence of 1% among live births. Antenatal diagnosing of renal duplication and an associated ureterocele is infrequent. We report four cases of prenatally diagnosed unilateral duplication of the renal collecting system. In two of them, the renal duplication was associated with an ectopic ureterocele. PMID:24469664

  13. Celiac Disease and Cystic Fibrosis: Challenges to Differential Diagnosis.

    PubMed

    Ramos, Alessandra Teixeira Pessoa; Figueirêdo, Manuella Machado; Aguiar, Ana Paula de B; Almeida, Carolina de Godoy; Mendes, Patrícia S A; Souza, Edna Lucia

    2016-01-01

    Cystic fibrosis and celiac disease were considered a single clinical entity for many years. Differentiation between the diseases occurred some time in the 1930s of the 20th Century. Both diseases may present the intestinal malabsorption syndrome and similar clinical manifestations that contribute to difficulties with clinical distinction. We describe a report of two patients with initial diagnosis of cystic fibrosis, who were subsequently diagnosed with celiac disease. These case reports emphasize the possibility of false positivity being shown in the sweat test in CD, which may result in delayed diagnosis and inadequate management of this disease. PMID:27552792

  14. Distal, intermediate, and proximal mediators of racial disparities in renal disease mortality in the United States

    PubMed Central

    Assari, Shervin

    2016-01-01

    Background: Kidney failure and associated mortality is one of the major components of racial disparities in the United States. Objectives: The current study aimed to investigate the role of distal (socioeconomic status, SES), intermediate (chronic medical diseases), and proximal (health behaviors) factors that may explain Black-White disparities in mortality due to renal diseases. Patients and Methods: This is a nationally representative prospective cohort with 25 years of follow up. Data came from the Americans’ Changing Lives (ACL) study, 1986 to 2011. The study included 3361 Black (n = 1156) or White (n = 2205) adults who were followed for up to 25 years. Race was the main predictor and death due to renal disease was the outcome. SES, chronic medical disease (diabetes, hypertension, obesity), and health behaviors (smoking, drinking, and exercise) at baseline were potential mediators. We used Cox proportional hazards models for data analysis. Results: In age and gender adjusted models, Blacks had higher risk of death due to renal disease over the follow up period. Separate models suggested that SES, health behaviors and chronic medical disease fully explained the effect of race on renal disease mortality. Conclusions: Black-White disparities in rate of death due to renal diseases in the United States are not genuine but secondary to racial differences in income, health behaviors, hypertension, and diabetes. As distal, intermediate, and proximal factors contribute to racial disparities in renal disease mortality, elimination of such disparities requires a wide range of policies and programs that target income, medical conditions, and health behaviors. PMID:27047811

  15. Baclofen-induced neurotoxicity in a patient with end-stage renal disease.

    PubMed

    Radhakrishnan, Hemachandar

    2016-05-01

    Baclofen, predominantly excreted by the kidneys is accumulated in patients with renal insufficiency leading to the central nervous system toxicity. Here the author reports a patient with end-stage renal disease on maintenance hemodialysis (HD) who developed drowsiness and became unresponsive within a day after taking single 10 mg dose of baclofen. Patient improved completely after two sessions of HD. PMID:27215257

  16. Renal Artery Embolization Controls Intractable Pain in a Patient with Polycystic Kidney Disease

    SciTech Connect

    Hahn, Seong Tai; Park, Seog Hee; Lee, Jae Mun; Kim, Choon-Yul; Chang, Yoon Sik

    1999-09-15

    A 65-year-old man with adult polycystic kidney disease (APKD) and chronic renal failure suffered from intractable abdominal pain and distension for 2 weeks. Meperidine infusion did not alleviate his pain. However, pain and abdominal distension were successfully controlled by embolization of both renal arteries.

  17. Hints to the diagnosis of uromodulin kidney disease

    PubMed Central

    Onoe, Tamehito; Yamada, Kazunori; Mizushima, Ichiro; Ito, Kiyoaki; Kawakami, Takahiro; Daimon, Shoichiro; Muramoto, Hiroaki; Konoshita, Tadashi; Yamagishi, Masakazu; Kawano, Mitsuhiro

    2016-01-01

    Background Uromodulin kidney disease (UKD) is an inherited kidney disease caused by a uromodulin (UMOD) gene mutation. The UMOD gene encodes the Tamm–Horsfall protein (THP), which is the most abundant protein in healthy human urine. Because of its rarity, the incidence of UKD has not been fully elucidated. The purpose of the present study is to clarify the frequency of UKD among patients who underwent renal biopsy. Methods Immunostaining for THP was performed for patients <50 years of age with renal insufficiency and hyperuricemia without overt urinalysis abnormality from renal biopsy databases. Serum and urinary THP concentrations were evaluated in available individuals. Results Fifteen patients were selected for immunostaining from a total of 3787 patients. In three independent patients, abnormal THP accumulation in renal tubular cells was observed. A novel missense A247P UMOD mutation was detected in two of the three patients, including one having a typical family history of familial juvenile hyperuricemic nephropathy. Serum and urinary THP concentrations of all available patients with UMOD A247P mutation were significantly lower than those of controls. Conclusions In the present study, UKD was detected in <1 in 1000 subjects who underwent renal biopsies. However, in subjects meeting all of the above criteria, abnormal THP accumulation was detected in 20% (3/15), suggesting that renal biopsy with immunostaining for THP is a good tool for diagnosing UKD. Also, low serum THP concentration detected in the present subjects might be a good diagnostic marker or important in understanding the pathogenesis of UKD. PMID:26798464

  18. Clinical insights into the diagnosis and management of renovascular disease. An evidence-based review.

    PubMed

    Bloch, M J; Basile, J

    2004-10-01

    Renovascular disease is a common, but complex disorder, the most common causes of which are fibromuscular dysplasia and atherosclerosis. It usually presents in 1 of 3 forms: asymptomatic renal artery stenosis, renovascular hypertension, or ischemic nephropathy. The clinical index of suspicion remains paramount in developing an appropriate diagnostic strategy. Although subject to certain limitations, conventional contrast angiography is usually considered the gold standard in confirming the diagnosis. In addition, there are a number of available non-invasive tests that can aid in decision-making. These tests can be divided into those that detect the anatomic presence of a stenosis and those that identify the functional consequences of the renal artery obstruction. No one study is appropriate for every patient. Treatment options include medical, surgical or percutaneous approaches. Generally, in patients with fibromuscular disease the results of surgery and percutaneous approaches appear superior. In patients with atherosclerotic disease, the data are less consistent, and there does appear to be a group of patients who will respond well to medical management. Potential diagnostic algorithms for diagnosis and treatment are presented in this review. PMID:15467512

  19. CT of acquired cystic kidney disease and renal tumors in long-term dialysis patients

    SciTech Connect

    Levine, E.; Grantham, J.J.; Slusher, S.L.; Greathouse, J.L.; Krohn, B.P.

    1984-01-01

    The kidneys of long term dialysis patients frequently demonstrate multiple small acquired cysts and renal cell tumors on pathologic examination. The original kidneys of 30 long-term dialysis patients and six renal transplant patients were evaluated by computed tomography to determine the incidence of these abnormalities. Among dialysis patients, 43.3% had diffuse bilateral cysts, while 16.7% had occasional cysts (fewer than five per kidney), and 40% showed no renal cysts. Seven solid renal tumors were detected in four dialysis patients with renal cysts. Acquired cystic kidney disease tends to result in renal enlargement, is more common in patients who have been maintained on dialysis for prolonged periods, and may lead to spontaneous renal hemorrhage. The six transplant patients showed no evidence of renal cysts, and all had markedly shrunken kidneys. Acquired cystic disease and renal cell tumors in the original kidneys of dialysis patients may be due to biologically active substances that are not cleared effectively by dialysis but that are removed by normally functioning transplant kidneys.

  20. Fluorescence in situ hybridization as an adjunct tool in the diagnosis of primary and metastatic renal cell carcinoma in fine needle aspiration specimens.

    PubMed

    Kos, Zuzana; Williams, Phillip A; Belanger, Eric C; Mai, Kien T

    2014-12-01

    We investigated the role of fluorescence in situ hybridization (FISH) in the diagnosis of primary renal neoplasms and lesions suspicious for metastatic renal cell carcinoma. Consecutive fine-needle aspiration biopsies (FNAB) of 39 renal masses and 41 metastatic tumours suspicious for renal cell origin were assessed with an immunohistochemical panel for CK7, RCC antigen, CD10, AMACR, PAX8, vimentin, and CD117. In addition, FISH was performed using probes for chromosomes 1p, 3p, 7, 17, X, and Y. A total of 31 of 39 primary renal masses and 33 of 41 metastatic tumors suspicious for renal origin demonstrated typical cytological and immunohistochemical (IHC) features of subtypes of renal neoplasms (40 clear cell renal cell carcinoma (RCC), 20 papillary RCC, and 4 renal oncocytomas). FISH analysis of 15 randomly selected cases each of primary and metastatic lesions revealed chromosomal abnormalities consistent with the diagnosis in 73% of these cases. Of 8 primary renal masses demonstrating atypical microscopic features and noncontributory IHC profiles, FISH was helpful in subtyping 5 (62%) of these lesions (2 clear cell RCC, 1 solid variant of oncocytic papillary RCC, 1 mixed clear cell and papillary RCC, and 1 chromophobe RCC with papillary architecture). Of 8 metastatic tumors clinically suspicious for renal cell origin and supportive, but nondiagnostic IHC, FISH revealed supportive chromosomal changes in 6 (75%) cases. In conclusion FISH analysis on FNAB material, even with limited tissue, may be contributory to the diagnosis and subtyping of RCC in diagnostically challenging biopsies. PMID:24692327

  1. The radiological diagnosis of gallbladder disease. An imaging symposium

    SciTech Connect

    Berk, R.N.; Ferrucci, J.T. Jr.; Fordtran, J.S.; Cooperberg, P.L.; Weissmann, H.S.

    1981-01-01

    Changes in the radiological diagnosis of gallbladder disease are occurring at a remarkable rate. In this symposium, several recognized authorities place the various diagnostic modalities and their interrelation in modern perspective. The present and future roles of oral cholecystography and intravenous cholangiography, the radiological diagnosis of chronic acalculous cholecystitis, and the use of ultrasonography and cholescintigraphy are analyzed.

  2. Diabetes, Renal and Cardiovascular Disease in p47phox−/− Chronic Granulomatous Disease

    PubMed Central

    Leiding, Jennifer W.; Marciano, Beatriz E.; Zerbe, Christa S.; DeRavin, Suk See; Malech, Harry L.

    2014-01-01

    Chronic granulomatous disease is a rare immunodeficiency due to defects in the phagocyte NADPH oxidase. The X-linked form (gp91phox deficiency) accounts for about 70 % of cases; autosomal recessive p47phox deficiency accounts for about 25 % of cases. We identified a 10 % incidence of diabetes in p47phox deficient CGD, but none in X-linked CGD. Renal and cardiovascular diseases were also higher in p47phox deficiency. p47phox deficient CGD has noninfectious morbidities distinct from those in X-linked CGD. PMID:23386289

  3. Molecular Mycobacteriology and Expansion in Disease Diagnosis.

    PubMed

    Sharma, Narotam; Singh, R K; Sharma, Praveen

    2016-04-01

    Molecular diagnostic tools for tuberculosis (TB) have evolved quickly with new innovations which can provide unprecedented opportunities for the rapid, sensitive and specific diagnosis of M. tuberculosis in clinical specimens and the status of its drug sensitivity. Microscopy and culture methods can not be replaced but the molecular assays can be applied in parallel with any new molecular tests for the diagnosis of TB. For extra pulmonary specimens, the use of the amplification methods is advocated, since rapid and accurate laboratory diagnosis is critical. Customization of the diagnostic usefulness of a molecular assay, according to the ease, reliability and need for health care sector is of immense value in a modern clinical mycobacteriology laboratory. PMID:27069321

  4. Prevalence of renal artery disease and its prognostic significance in patients undergoing coronary bypass grafting.

    PubMed

    Aboyans, Victor; Tanguy, Benedicte; Desormais, Ileana; Bonnet, Vincent; Chonchol, Michel; Laskar, Marc; Mohty, Dania; Lacroix, Philippe

    2014-10-01

    Several studies demonstrated the prognostic importance of renal failure and peripheral artery disease in patients undergoing coronary artery bypass grafting (CABG), but data regarding the prognostic value of renal artery disease in this context are scarce. We aimed to study the prevalence and prognostic value of renal artery disease in patients undergoing CABG. We assessed by duplex ultrasound the renal arteries of 429 consecutive patients who underwent CABG, of whom 401 had satisfactory imaging quality to detect >60% renal artery stenosis (RAS) and/or an elevated resistive index (ERI>0.80). Of the 401 subjects included (age 68±10 years, 83% men), 40 (10%) had RAS and 35 (9%) had ERI. Nine patients (2.2%) had both conditions. Patients were followed up for 12.4±7.0 months. The primary outcome was composite, including 30-day death, stroke, and/or myocardial infarction. In a multivariate model adjusted for age, gender, cardiovascular (CV) risk factors, renal function, chronic obstructive pulmonary disease, the use of off-pump CABG, CV co-morbidities, and drugs, the presence of ERI was strongly associated with the occurrence of the composite outcome (odds ratio 4.3, 95% confidence interval 1.7 to 9.9, p=0.0006). Similarly, ERI, not RAS, was significantly associated with the 30-day acute kidney disease and the midterm mortality, as well as fatal and nonfatal CV events. In conclusion, regardless of renal function and other factors, the renal resistive index is a strong predictor of CV and renal events after CABG. Renal duplex ultrasound can identify a subgroup of patients at high risk of CABG. PMID:25150754

  5. Renovascular disease, microcirculation, and the progression of renal injury: role of angiogenesis.

    PubMed

    Chade, Alejandro R

    2011-04-01

    Emerging evidence supports the pivotal role of renal microvascular disease as a determinant of tubulo-interstitial and glomerular fibrosis in chronic kidney disease. An intact microcirculation is vital to restore blood flow to the injured tissues, which is a crucial step to achieve a successful repair response. The purpose of this review is to discuss the impact and mechanisms of the functional and structural changes of the renal microvascular network, as well as the role of these changes in the progression and irreversibility of renal injury. Damage of the renal microcirculation and deterioration of the angiogenic response may constitute early steps in the complex pathways involved in progressive renal injury. There is limited but provocative evidence that stimulation of vascular proliferation and repair may stabilize renal function and slow the progression of renal disease. The feasibility of novel potential therapeutic interventions for stabilizing the renal microvasculature is also discussed. Targeted interventions to enhance endogenous renoprotective mechanisms focused on the microcirculation, such as cell-based therapy or the use of angiogenic cytokines have shown promising results in some experimental and clinical settings. PMID:21307362

  6. Computer-assisted initial diagnosis of rare diseases

    PubMed Central

    Piñol, Marc; Vilaplana, Jordi; Teixidó, Ivan; Cruz, Joaquim; Comas, Jorge; Vilaprinyo, Ester; Sorribas, Albert

    2016-01-01

    Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype. We call this tool Rare Disease Discovery. Finally, we also aimed at testing the performance of the prototype. Methods. Rare Disease Discovery uses the publicly available ORPHANET data set of association between rare diseases and their symptoms to automatically predict the most likely rare diseases based on a patient’s symptoms. We apply the method to retrospectively diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently we test the precision, sensitivity, and global performance of the system under different scenarios by running large scale Monte Carlo simulations. All settings account for situations where absent and/or unrelated symptoms are considered in the diagnosis. Results. We find that this expert system has high diagnostic precision (≥80%) and sensitivity (≥99%), and is robust to both absent and unrelated symptoms. Discussion. The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases. We coupled this engine with a user-friendly web interface and it can be freely accessed at http://disease-discovery.udl.cat/. The code and most current database for the whole project can be downloaded from https://github.com/Wrrzag/DiseaseDiscovery/tree/no_classifiers. PMID:27547534

  7. Computer-assisted initial diagnosis of rare diseases.

    PubMed

    Alves, Rui; Piñol, Marc; Vilaplana, Jordi; Teixidó, Ivan; Cruz, Joaquim; Comas, Jorge; Vilaprinyo, Ester; Sorribas, Albert; Solsona, Francesc

    2016-01-01

    Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype. We call this tool Rare Disease Discovery. Finally, we also aimed at testing the performance of the prototype. Methods. Rare Disease Discovery uses the publicly available ORPHANET data set of association between rare diseases and their symptoms to automatically predict the most likely rare diseases based on a patient's symptoms. We apply the method to retrospectively diagnose a cohort of 187 rare disease patients with confirmed diagnosis. Subsequently we test the precision, sensitivity, and global performance of the system under different scenarios by running large scale Monte Carlo simulations. All settings account for situations where absent and/or unrelated symptoms are considered in the diagnosis. Results. We find that this expert system has high diagnostic precision (≥80%) and sensitivity (≥99%), and is robust to both absent and unrelated symptoms. Discussion. The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases. We coupled this engine with a user-friendly web interface and it can be freely accessed at http://disease-discovery.udl.cat/. The code and most current database for the whole project can be downloaded from https://github.com/Wrrzag/DiseaseDiscovery/tree/no_classifiers. PMID:27547534

  8. Neurodegenerative disease: a different view of diagnosis.

    PubMed

    Hardy, J; Gwinn-Hardy, K

    1999-12-01

    Neurodegenerative diseases have traditionally been defined as clinicopathological entities. Although this has been a productive paradigm in terms of the development of treatment strategies, molecular genetic approaches have revealed that there is overlap between different entities in pathogenic mechanisms. In this article, it is argued that neurodegenerative disease should also be thought of as the consequences of sequential biochemical processes, and that some parts of these processes appear to operate in more than one disease entity. Defining these pathways and, in particular, developing an appreciation of the commonalities between different diseases, should aid in the development of therapies that are effective in several diseases. PMID:10562716

  9. Antidiabetic Therapy in End-Stage Renal Disease.

    PubMed

    Boyle, Suzanne M; Simon, Barbara; Kobrin, Sidney M

    2015-01-01

    There has been substantial growth in the variety of available antidiabetic agents during the last decade and a half. The role of these newer agents in patients with diabetes and end-stage renal disease (ESRD) population, and their relative benefits and risks in this population compared to patients without ESRD are not yet clear. This stems from the altered state of glucose homeostasis in ESRD, which places patients at high risk for hypoglycemia and, in certain situations, hyperglycemia. In addition, there is a dearth of evidence to support a benefit of tight glycemic control on either micro- or macrovascular outcomes in ESRD patients; furthermore, the metrics by which glycemic control is conventionally measured are less valid in ESRD. In this review, we will discuss noninsulin and insulin-based therapies as well as unique challenges, contraindications, advantages, and disadvantages to their use in ESRD. We will also review issues pertinent to both hemodialysis (HD) and peritoneal dialysis (PD) patients. PMID:25898790

  10. Psychotherapeutic Agents in End-Stage Renal Disease.

    PubMed

    Eyler, Rachel F; Unruh, Mark L; Quinn, Davin K; Vilay, Aloun Mary

    2015-01-01

    Patients with end-stage renal disease (ESRD) are often affected by many comorbid conditions, including mental health disorders. Psychiatric illness among patients with ESRD has been associated with increased risks for nonadherence, hospitalizations, suicide, and all-cause mortality. We reviewed the pharmacokinetic data available with psychotherapeutic agents, focusing on physiologic data rather than specific dosing recommendations. Unfortunately data regarding the pharmacokinetics, efficacy, and safety of psychotherapeutic agents in ESRD remain rather limited. Of the agents available, it appears that the most data in this patient group were found with selective serotonin reuptake inhibitors and benzodiazepines. Given the small number of patients enrolled in many of the studies and the wide inter-individual variability, it was difficult to interpret the significance of results in many instances. A number of agents, such as tricyclic antidepressants, were associated with adverse effects that would be imperative to avoid in patients with ESRD. Psychotherapeutic medications should be started at low doses and titrated carefully, while monitoring the efficacy and safety of each agent. PMID:25857865

  11. In-vivo Vascular Wall Shear Rate and Circumferential Strain of Renal Disease Patients

    PubMed Central

    Park, Dae Woo; Kruger, Grant H.; Rubin, Jonathan M.; Hamilton, James; Gottschalk, Paul; Dodde, Robert E.; Shih, Albert J.; Weitzel, William F.

    2012-01-01

    This study measures the vascular wall shear rate at the vessel edge using decorrelation based ultrasound speckle tracking. Results for nine healthy and eight renal disease subjects are presented. Additionally, the vascular wall shear rate and circumferential strain during physiologic pressure, pressure equalization and hyperemia are compared for five healthy and three renal disease subjects. The mean and maximum wall shear rates were measured during the cardiac cycle at the top and bottom wall edges. The healthy subjects had significantly higher mean and maximum vascular wall shear rate than the renal disease subjects. The key findings of this research were that the mean vascular wall shear rates and circumferential strain changes between physiologic pressure and hyperemia that was significantly different between healthy and renal disease subjects. PMID:23211936

  12. Preeclampsia from a renal point of view: Insides into disease models, biomarkers and therapy

    PubMed Central

    Müller-Deile, Janina; Schiffer, Mario

    2014-01-01

    Proteinuria is a frequently detected symptom, found in 20% of pregnancies. A common reason for proteinuria in pregnancy is preeclampsia. To diagnose preeclampsia clinically and to get new insights into the pathophysiology of the disease it is at first essential to be familiar with conditions in normal pregnancy. Animal models and biomarkers can help to learn more about disease conditions and to find new treatment strategies. In this article we review the changes in kidney function during normal pregnancy and the differential diagnosis of proteinuria in pregnancy. We summarize different pathophysiological theories of preeclampsia with a special focus on the renal facets of the disease. We describe the current animal models and give a broad overview of different biomarkers that were reported to predict preeclampsia or have a prognostic value in preeclampsia cases. We end with a summary of treatment options for preeclampsia related symptoms including the use of plasmapheresis as a rescue therapy for so far refractory preeclampsia. Most of these novel biomarkers for preeclampsia are not yet implemented in clinical use. Therefore, we recommend using proteinuria (measured by UPC ratio) as a screening parameter for preeclampsia. Delivery is the only curative treatment for preeclampsia. In early preeclampsia the primary therapy goal is to prolong pregnancy until a state were the child has an acceptable chance of survival after delivery. PMID:25374810

  13. Preeclampsia from a renal point of view: Insides into disease models, biomarkers and therapy.

    PubMed

    Müller-Deile, Janina; Schiffer, Mario

    2014-11-01

    Proteinuria is a frequently detected symptom, found in 20% of pregnancies. A common reason for proteinuria in pregnancy is preeclampsia. To diagnose preeclampsia clinically and to get new insights into the pathophysiology of the disease it is at first essential to be familiar with conditions in normal pregnancy. Animal models and biomarkers can help to learn more about disease conditions and to find new treatment strategies. In this article we review the changes in kidney function during normal pregnancy and the differential diagnosis of proteinuria in pregnancy. We summarize different pathophysiological theories of preeclampsia with a special focus on the renal facets of the disease. We describe the current animal models and give a broad overview of different biomarkers that were reported to predict preeclampsia or have a prognostic value in preeclampsia cases. We end with a summary of treatment options for preeclampsia related symptoms including the use of plasmapheresis as a rescue therapy for so far refractory preeclampsia. Most of these novel biomarkers for preeclampsia are not yet implemented in clinical use. Therefore, we recommend using proteinuria (measured by UPC ratio) as a screening parameter for preeclampsia. Delivery is the only curative treatment for preeclampsia. In early preeclampsia the primary therapy goal is to prolong pregnancy until a state were the child has an acceptable chance of survival after delivery. PMID:25374810

  14. Sleep Disorders and Cardio-Renal Disease: Implications for Minority Populations

    PubMed Central

    Giunta, Judith; Salifu, Moro O.; McFarlane, Samy I.

    2016-01-01

    Obesity is a major public health problem that is reaching pandemic proportion. Currently two thirds of the American population is either overweight or obese and worldwide, 39% of the population is overweight and 13% are considered obese [1,2]. This rapid rise in obesity is associated with increased in diabetes mellitus type 2 (DM2), hypertension (HTN), chronic kidney disease (CKD) and cardiovascular diseases (CVD), the major killer of adults in the USA. Parallel to this epidemic is the rapid rise of sleep disorders such as Obstructive Sleep Apnea (OSA). These disorders lead to increased morbidity and mortality and generally go undiagnosed and undertreated, particularly among minority groups. Accumulating evidence indicates common pathophysiologic background underlying all of these related disorders. Among these include: increased inflammation, increased oxidative stress, endothelial dysfunction, dyslipidemia and hypercoagulability. We discuss the rising epidemic of sleep disorders and its interrelationship with DM2, HTN, CVD and renal disease highlighting the racial disparity in diagnosis and treatment of these disorders that disproportionately affects minority populations. We also discuss the various treatment modalities and the cutting edge developments in this field.

  15. Sporadic renal hemangioblastoma with CA9, PAX2 and PAX8 expression: diagnostic pitfall in the differential diagnosis from clear cell renal cell carcinoma

    PubMed Central

    Kuroda, Naoto; Agatsuma, Yoshiko; Tamura, Masato; Martinek, Petr; Hes, Ondrej; Michal, Michal

    2015-01-01

    To date, 13 cases of sporadic renal hemangioblastoma have been reported. In this article, we report such a case that might cause the diagnostic pitfall. A 37-year-old Japanese was found to have a renal mass by periodic medical check-up. He underwent radical nephrectomy. Macroscopically, the tumor was well-defined without fibrous capsule and the cut surface of the tumor exhibited light brown to gray-tan color without hemorrhage or necrosis. Microscopically, the tumor was made up of large polygonal to short spindle cells with eosinophilic cytoplasm with occasional vacuolization and abundant arborizing capillary network. Immunohistochemically, neoplastic cells showed diffuse positivity for inhibin-alpha, S-100 protein, vimentin, CA9, PAX2 and PAX8, but negativity for cytokeratin CAM5.2, alpha smooth muscle actin, Melanosome, Melan A, TFE3 and cathepsin K. In genetic analyses, this tumor showed no changes of VHL gene mutation, hypermethylation and loss of heterozygosity of chromosome 3p. Additionally, G-band karyotype and array comparative genomic hybridization studies showed a normal chromosome. In conclusion, the positivity for CA9, PAX2 and PAX8 in sporadic renal hemangioblastoma may cause the critical diagnostic pitfall in the differential diagnosis from clear cell renal cell carcinoma. Pathologists need to pay attention to systemic evaluation including macroscopic, microscopic and immunohistochemical findings. In some cases, molecular genetic study may be necessary. PMID:25973115

  16. Current diagnosis and treatment of Castleman's disease.

    PubMed

    González García, A; Moreno Cobo, M Á; Patier de la Peña, J L

    2016-04-01

    Castleman's disease is not just a single disease but rather an uncommon, heterogeneous group of nonclonal lymphoproliferative disorders, which have a broad spectrum of clinical expression. Three histological types have been reported, along with several clinical forms according to clinical presentation, histological substrate and associated diseases. Interleukin-6, its receptor polymorphisms, the human immunodeficiency virus and the human herpes virus 8 are involved in the etiopathogenesis of Castleman's disease. The study of this disease has shed light on a syndrome whose incidence is unknown. Despite recent significant advances in our understanding of this disease and the increasing therapeutic experience with rituximab, tocilizumab and siltuximab, there are still difficult questions concerning its aetiology, prognosis and optimal treatment. PMID:26749192

  17. Clostridium difficile: clinical disease and diagnosis.

    PubMed Central

    Knoop, F C; Owens, M; Crocker, I C

    1993-01-01

    Clostridium difficile is an opportunistic pathogen that causes a spectrum of disease ranging from antibiotic-associated diarrhea to pseudomembranous colitis. Although the disease was first described in 1893, the etiologic agent was not isolated and identified until 1978. Since clinical and pathological features of C. difficile-associated disease are not easily distinguished from those of other gastrointestinal diseases, including ulcerative colitis, chronic inflammatory bowel disease, and Crohn's disease, diagnostic methods have relied on either isolation and identification of the microorganism or direct detection of bacterial antigens or toxins in stool specimens. The current review focuses on the sensitivity, specificity, and practical use of several diagnostic tests, including methods for culture of the etiologic agent, cellular cytotoxicity assays, latex agglutination tests, enzyme immunoassay systems, counterimmunoelectrophoresis, fluorescent-antibody assays, and polymerase chain reactions. PMID:8358706

  18. Association Between Graves’ Disease and Renal Coloboma Syndrome: A Case Report

    PubMed Central

    Sato, Takeshi; Muroya, Koji; Hanakawa, Junko; Asakura, Yumi; Takahashi, Eihiko; Shiroyanagi, Yoshiyuki; Yamazaki, Yuichiro; Tanaka, Yukichi; Hasegawa, Tomonobu; Adachi, Masanori

    2013-01-01

    Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves’ disease. Four affected family members had a previously reported heterozygous mutation (c.76dupG, p.Val26Glyfs*28) in the PAX2 gene. We hypothesized that PAX2 mutations may increase the risk of autoimmune diseases through alterations of human β-defensin 1 expression. PMID:23966757

  19. Pregnancy in end-stage renal disease patients on dialysis: how to achieve a successful delivery

    PubMed Central

    Manisco, Gianfranco; Potì’, Marcello; Maggiulli, Giuseppe; Di Tullio, Massimo; Losappio, Vincenzo; Vernaglione, Luigi

    2015-01-01

    Pregnancy in women with chronic kidney disease has always been considered as a challenging event both for the mother and the fetus. Over the years, several improvements have been achieved in the outcome of pregnant chronic renal patients with increasing rates of successful deliveries. To date, evidence suggests that the stage of renal failure is the main predictive factor of worsening residual kidney function and complications in pregnant women. Moreover, the possibility of success of the pregnancy depends on adequate depurative and pharmacological strategies in patients with end-stage renal disease. In this paper, we propose a review of the current literature about this topic presenting our experience as well. PMID:26034591

  20. Case for diagnosis. Metastatic Crohn's disease*

    PubMed Central

    Gontijo, João Renato Vianna; Leidenz, Franciele Antonieta Bianchi; de Sousa, Maria Silvia Laborne Alves

    2016-01-01

    Metastatic Crohn's disease is a rare skin manifestation, defined by granulomatous skin lesions that are discontinuous to the affected gastrointestinal tract and histopathologically resembling inflammatory bowel lesions. Up to 44% of patients with Crohn's disease have cutaneous manifestations, of which metastatic lesions are the least common. We present a case of an adolescent with refractory Crohn's disease and persistent papules and plaques on the skin. PMID:27579756

  1. Case for diagnosis. Metastatic Crohn's disease.

    PubMed

    Gontijo, João Renato Vianna; Leidenz, Franciele Antonieta Bianchi; Sousa, Maria Silvia Laborne Alves de

    2016-01-01

    Metastatic Crohn's disease is a rare skin manifestation, defined by granulomatous skin lesions that are discontinuous to the affected gastrointestinal tract and histopathologically resembling inflammatory bowel lesions. Up to 44% of patients with Crohn's disease have cutaneous manifestations, of which metastatic lesions are the least common. We present a case of an adolescent with refractory Crohn's disease and persistent papules and plaques on the skin. PMID:27579756

  2. Morbidity in early Parkinson's disease and prior to diagnosis

    PubMed Central

    Frandsen, Rune; Kjellberg, Jakob; Ibsen, Rikke; Jennum, Poul

    2014-01-01

    Background Nonmotor symptoms are probably present prior to, early on, and following, a diagnosis of Parkinson's disease. Nonmotor symptoms may hold important information about the progression of Parkinson's disease. Objective To evaluated the total early and prediagnostic morbidities in the 3 years before a hospital contact leading to a diagnosis of Parkinson's disease. Methods Retrospective morbidity data from Danish National Patient Registry records (1997–2007) of 10,490 adult patients with a secondary care diagnosis of Parkinson's disease were compared with 42,505 control cases. Results Parkinson's disease was associated with significantly higher morbidity rates associated with conditions in the following categories: mental and psychiatric, nervous system, gastrointestinal, musculoskeletal system and connective tissue, genitourinary, abnormal clinical and laboratory findings, injury, poisoning and certain other external causes, and other factors influencing health status and contact with health services. It was negatively associated with neoplasm, cardiovascular, and respiratory diseases. Conclusions Patients with a diagnosis of Parkinson's disease present significant differences in morbidities early on, following, and prior to, their diagnosis, compared with healthy controls. PMID:24944873

  3. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management.

    PubMed

    Luciano, Randy L; Dahl, Neera K

    2014-02-01

    Autosomal-dominant polycystic kidney disease (ADPKD) is a systemic disease, marked by progressive increase of bilateral renal cysts, resulting in chronic kidney disease (CKD) and often leading to end-stage renal disease (ESRD). Apart from renal cysts, patients often have extra-renal disease, involving the liver, heart and vasculature. Other less common but equally important extra-renal manifestations of ADPKD include diverticular disease, hernias, male infertility and pain. Extra-renal disease burden is often asymptomatic, but may result in increased morbidity and mortality. If the disease burden is significant, screening may prove beneficial. We review the rationale for current screening recommendations and propose some guidelines for screening and management of ADPKD patients. PMID:24215018

  4. Acceptance and effects of a therapeutic renal food in pet cats with chronic kidney disease

    PubMed Central

    Fritsch, Dale A; Jewell, Dennis E

    2015-01-01

    Introduction Renal foods are used to manage chronic kidney disease (CKD) in dogs and cats, but their effectiveness may be limited by the ability to transition animals to them. Material and Methods In a prospective study, pet cats with previously undiagnosed kidney disease (20 International Renal Interest Society (IRIS) 1, 61 IRIS 2, 14 IRIS 3/4, 33 at risk for CKD) were transitioned to a renal food. Markers of renal function were measured and owners answered questionnaires about their pet over one year. Results All but eight cats (120/128; 94 per cent) successfully transitioned to the renal food. Most of the time, cats moderately or extremely liked the food (89 per cent), ate at least half (73 per cent) and were moderately or extremely enthusiastic while eating (68 per cent). Cats rarely disliked the food (2 per cent) or refused to eat it (1 per cent). Markers of renal function were unchanged in IRIS 1 and 2 cats and changed little in IRIS 3/4 cats. In all groups, owner-assessed quality of life improved initially and then remained stable. Mean bodyweight did not change in cats with CKD. Conclusions Most cats with CKD successfully transitioned to the renal food. The results also support previous studies that the renal food can help stabilise cats with CKD. PMID:26587240

  5. Quiz. Correct answer to the quiz. Check your diagnosis. Clear cell papillary renal cell carcinoma.

    PubMed

    Joseph, Keva; Liu, Kai-Wen; Chang, I-Wei

    2015-06-01

    We incidentally observed a case of clear cell papillary renal cell carcinoma of an 81-year-old woman, presenting with intermittent left flank pain. It is a recently described rare renal parenchymal tumor. PMID:26328282

  6. [The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].

    PubMed

    Mignani, Renzo; Gallieni, Maurizio; Feriozzi, Sandro; Pisani, Antonio; Marziliano, Nicola; Morrone, Amelia

    2015-01-01

    Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is a characterized by the involvement of several systems: renal, neurological, hearth, cochleovestibular and cutaneous systems are the most involved. Despite recent studies have provided new insights in the this disease, there are still lacks and discrepancies among all insiders regarding the diagnosis, clinical and therapeutic management. Enzyme replacement have been demonstrated to improve the course of the disease, especially when the diagnosis is early. There are still some debates on diagnosis and management of patients, in particular in the heterozygote female and the start of enzyme replacement. Thus, an Italian board, composed by nephrologists, cardiologists, genetics, pediatricians and neurologists has been established in order to approve through a consensus a diagnostic and therapeutic Italian management. Authors report the renal clinical and therapeutic management, a useful tool either for expert physicians or for those with a few experience in the diagnosis and management of this disease. PMID:26252265

  7. End Stage Renal Disease as a Potential Risk Factor for Retinal Vein Occlusion.

    PubMed

    Chen, San-Ni; Yang, Te-Cheng; Lin, Jian-Teng; Lian, Ie-Bin

    2015-11-01

    End stage renal disease (ESRD) has been reported to be an important risk factor for systemic vascular disease. Retinal vein occlusion (RVO) is closely related with cardiovascular diseases; however, its association with ESRD had not been reported. The aim of the study was to investigate whether ESRD is a risk factor for RVO, including central retinal vein occlusion (CRVO) and branch retinal vein occlusion (BRVO). This population-based study is based on the longitudinal data from Taiwan National Health Insurance Research Database. The study cohort comprised 5344 patients with diagnosis of ESRD on hemodialysis or peritoneal dialysis during the period from January 1996 to December 2011. For each ESRD patient, we selected 20 non-ESRD patients matched on age and sex. Each ESRD patient and his/her controls were followed from the initiation of renal dialysis until either the diagnosis of RVO or censorship. Kaplan-Meier method was used to compare the hazard of RVO between cohorts. Stratified Cox proportional hazard models were applied to estimate the hazard ratio (HR) adjusted by the comorbidities of RVO including diabetes mellitus (DM), hypertension, hypercholesteremia, and hypertriglyceridemia. After stratifying by DM status, the statistics were applied again to examine the associations among the DM cohort and non-DM cohort.The 16-year RVO cumulative incidence for ESRD cohort was 2-fold to the non-ESRD (1.01% vs 0.46%). After matching with age, sex, hypertension, and hypercholesteremia, the adjusted HR was 1.46 (95% confidence interval = 1.07-2.01, P value = 0.018). By further excluding patients with DM, the adjusted HR escalated to 2.43 (95% confidence interval = 1.54-3.83, P < 0.001). In contrast, there was no significant risk of ESRD on RVO in the DM patients (HR = 1.03). We conclude that among the non-DM patients, ESRD cases had significantly higher RVO rate than the non-ESRD, which indicates that ESRD maybe a potential risk factor for the development of RVO in

  8. Renal disease and dysfunction in two patients with anorexia nervosa.

    PubMed

    Brotman, A W; Stern, T A; Brotman, D L

    1986-08-01

    Two patients are described who illustrate the association between renal abnormalities and eating disorders. The relevant literature is reviewed, and the difficulty in managing these patients on medical and surgical services is highlighted. PMID:3733679

  9. Computer-assisted diagnosis in renal nuclear medicine: rationale, methodology, and interpretative criteria for diuretic renography.

    PubMed

    Taylor, Andrew T; Garcia, Ernest V

    2014-03-01

    The goal of artificial intelligence, expert systems, decision support systems, and computer-assisted diagnosis (CAD) in imaging is the development and implementation of software to assist in the detection and evaluation of abnormalities, to alert physicians to cognitive biases, to reduce intraobserver and interobserver variability, and to facilitate the interpretation of studies at a faster rate and with a higher level of accuracy. These developments are needed to meet the challenges resulting from a rapid increase in the volume of diagnostic imaging studies coupled with a concurrent increase in the number and complexity of images in each patient data. The convergence of an expanding knowledge base and escalating time constraints increases the likelihood of physician errors. Errors are even more likely when physicians interpret low-volume studies such as technetium-99m-mercaptoacetyltriglycine diuretic scans where imagers may have had limited training or experience. Decision support systems include neural networks, case-based reasoning, expert systems, and statistical systems. iRENEX (renal expert) is an expert system for diuretic renography that uses a set of rules obtained from human experts to analyze a knowledge base of both clinical parameters and quantitative parameters derived from the renogram. Initial studies have shown that the interpretations provided by iRENEX are comparable to the interpretations of a panel of experts. iRENEX provides immediate patient-specific feedback at the time of scan interpretation, can be queried to provide the reasons for its conclusions, and can be used as an educational tool to teach trainees to better interpret renal scans. It also has the capacity to populate a structured reporting module and generate a clear and concise impression based on the elements contained in the report; adherence to the procedural and data entry components of the structured reporting module ensures and documents procedural competency. Finally

  10. Diagnosis and management of canine claw diseases.

    PubMed

    Mueller, R S

    1999-11-01

    The diagnostic workup for canine claw disease consists of a good history and complete clinical examination which may provide clues for a possible underlying disorder. In dogs with claw disease but no other clinical or historical signs, further recommended diagnostic procedures include cytological evaluation of impression smears or discharge from the claw fold, bacterial culture and sensitivity testing, biopsy of the claw matrix, and an elimination diet for 6 to 8 weeks. If no underlying disease can be identified, trial treatment with essential fatty acid supplementation, vitamin E, or a combination of doxycycline hydrochloride and niacinamide may be useful. In some patients, onychectomy of all claws may be considered. PMID:10563005

  11. [Molecular diagnosis of collagen vascular diseases and vasculitides].

    PubMed

    Hoffmann, K; Hertl, M; Sitaru, C

    2016-01-01

    Collagen vascular diseases and vasculitides comprise various diseases, which may affect virtually every organ system. Therefore, their diagnosis and management is often an interdisciplinary challenge. Because of the heterogeneous symptoms, these diseases have significant overlap, which interferes with the clinical diagnosis and may require additional investigation. Therefore, a rational and comprehensive diagnostic work-up should be performed at the initial presentation before initiation of therapy. The detection of antinuclear (ANA) or anticell antibodies by indirect immunofluorescence microscopy on Hep2 cells is used to screen for autoantibodies in collagen vascular diseases. The molecular specificity of autoantibodies should be further characterized using immunoassays with recombinant or purified protein. When systemic autoimmune disease is suspected, the function of the frequently affected organs should be evaluated. The immunopathological findings should always be interpreted in the context of clinical, histological, and imaging data. The detection of autoantibodies is helpful for the initial diagnosis, provides prognostic information, may indicate involvement of organs or systems and some parameters may also be used for disease monitoring. The clinical significance of autoantibodies is emphasized by the fact that their detection constitutes diagnostic criteria for most collagen vascular diseases and several vasculitides. The screening for ANCA may be performed using immunoassays with recombinant myeloperoxidase and proteinase 3 or by indirect immunofluorescence microscopy on granulocytes. In this article, the current diagnostic tools and their relevance for the diagnosis and monitoring of systemic autoimmune diseases with primary skin involvement are reviewed. PMID:26650868

  12. Toll-Like Receptor Family Polymorphisms Are Associated with Primary Renal Diseases but Not with Renal Outcomes Following Kidney Transplantation

    PubMed Central

    Damman, Jeffrey; Leuvenink, Henri G. D.; van Goor, Harry; Hillebrands, Jan-Luuk; Hepkema, Bouke G.; Snieder, Harold; van den Born, Jacob; de Borst, Martin H.; Bakker, Stephan J. L.; Navis, Gerjan J.; Ploeg, Rutger J.; Florquin, Sandrine; Seelen, Marc; Leemans, Jaklien C.

    2015-01-01

    Toll-like receptors (TLRs) play a crucial role in innate- and adaptive immunity. The TLR pathways were shown to play key functional roles in experimental acute and chronic kidney injury, including the allo-immune response after experimental renal transplantation. Data about the precise impact of TLRs and their negative regulators on human renal transplant outcomes however are limited and contradictory. We studied twelve non-synonymous single nucleotide polymorphisms (SNPs) of which eleven in TLR1-8 and one in SIGIRR in a final cohort comprising 1116 matching donors and recipients. TLR3 p.Leu412Phe and SIGIRR p.Gln312Arg significantly deviated from Hardy-Weinberg equilibrium and were excluded. The frequency distribution of the minor alleles of the remaining 10 TLR variants were compared between patients with end-stage renal disease (recipients) and controls (kidney donors) in a case-control study. Secondly, the associations between the minor allele frequency of the TLR variants and delayed graft function, biopsy-proven acute rejection and death-censored graft failure after transplantation were investigated with Cox regression. Carrier frequencies of the minor alleles of TLR1 p.His305Leu (OR = 4.79, 95% CI = 2.35–9.75, P = 0.0002), TLR1 p.Asn248Ser (OR = 1.26, 95% CI = 1.07–1.47, P = 0.04) and TLR8 p.Met1Val (OR = 1.37, 95% CI = 1.14–1.64, P = 0.008) were significantly higher in patients with ESRD, with little specificity for the underlying renal disease entity (adjusted for age, gender and donor-recipient relatedness). The minor allele frequency of none of the TLR variants significantly associated with the surrogate and definite outcomes, even when multivariable models were created that could account for TLR gene redundancy. In conclusion, genetic variants in TLR genes were associated with the prevalence of ESRD but not renal transplant outcomes. Therefore, our data suggests that specific TLR signaling routes might play a role in the final common pathway of

  13. [Delayed diagnosis of juvenile Huntington's diseases: case report].

    PubMed

    Meza Escobar, Luis Enrique; Orozco, Jorge Luis; Takeuchi, Yuri; Ariza, Yoseth; Pachajoa, Harry

    2014-02-01

    Huntington's disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance. PMID:24566795

  14. Genetic analysis for early diagnosis of otorhinolaryngeal diseases

    PubMed Central

    Propping, Peter

    2010-01-01

    Familiarity with the concepts and methods of human genetics is important in order to be able to perform genetic analysis. The grade of predictability of a genetic disease is partly given by formal genetics but also depends on the importance of the mutated gene for the phenotype. Possibilities for genetic analysis range from differential diagnosis to predictive diagnosis to prenatal diagnosis. After initial consultation in which the physician fully explains the procedure to the patient, it is mandatory that the patient give his full consent. This article summarises and evaluates current knowledge about genetic analysis of important otorhinolaryngeal diseases, including hereditary hearing disabilities, olfactory malfunction, hereditary tumorous diseases, hereditary syndromes and dysplasias. In addition, this article discusses genetic diseases that affect voice and speech, highlights the relevance of human genetic consultation and discusses the importance of embedding genetic analysis in medicine in general. PMID:22073089

  15. Renal infarction: CT diagnosis and correlation between CT findings and etiologies

    SciTech Connect

    Wong, W.S.; Moss, A.A.; Federle, M.P.; Cochran, S.T.; London, S.S.

    1984-01-01

    The CT scans and the clinical records of 12 patients who had renal infarction were reviewed. The renal infarcts were classified as either focal or global. The CT findings were correlated with the etiologies of renal infarction. Embolism was the most common cause of renal infarcts that were multifocal with involvement of both kidneys. Trauma caused a unilateral global type of infract. A case of sickle cell anemia presented with multiple ''slit-like'' focal infarcts and enlarged kidneys. Forty-seven per cent of infarcts demonstrated the cortical rim sign, 11% were acapsular fluid collection, and 6% had an abnormally thickened renal fascia.

  16. How to differentiate renal senescence from chronic kidney disease in clinical practice.

    PubMed

    Musso, Carlos G; Jauregui, Jose R

    2016-09-01

    Renal aging is frequently confused with chronic nephropathy in clinical practice, since there are some similarities between them, particularly regarding reduced glomerular filtration rate (GFR). However, there are many differences between these two entities which can help any practitioner to distinguish between them, such as: GFR deterioration rate, hematocrit, renal handling of urea, creatinine and some electrolytes, tubular acidification, urinalysis, and renal imaging. Differentiation between renal aging and chronic renal disease is crucial in order to avoid unnecessary medicalization of what is a physiological change associated with the healthy aging process, and the potential harmful consequences of such overdiagnosis. A recently described equation (HUGE), as well as an adequate nephrological evaluation and follow up can help physicians to distinguish both entities. PMID:27383288

  17. Role of NADPH Oxidase in Metabolic Disease-Related Renal Injury: An Update.

    PubMed

    Wan, Cheng; Su, Hua; Zhang, Chun

    2016-01-01

    Metabolic syndrome has been linked to an increased risk of chronic kidney disease. The underlying pathogenesis of metabolic disease-related renal injury remains obscure. Accumulating evidence has shown that NADPH oxidase is a major source of intrarenal oxidative stress and is upregulated by metabolic factors leading to overproduction of ROS in podocytes, endothelial cells, and mesangial cells in glomeruli, which is closely associated with the initiation and progression of glomerular diseases. This review focuses on the role of NADPH oxidase-induced oxidative stress in the pathogenesis of metabolic disease-related renal injury. Understanding of the mechanism may help find potential therapeutic strategies. PMID:27597884

  18. Role of NADPH Oxidase in Metabolic Disease-Related Renal Injury: An Update

    PubMed Central

    Su, Hua

    2016-01-01

    Metabolic syndrome has been linked to an increased risk of chronic kidney disease. The underlying pathogenesis of metabolic disease-related renal injury remains obscure. Accumulating evidence has shown that NADPH oxidase is a major source of intrarenal oxidative stress and is upregulated by metabolic factors leading to overproduction of ROS in podocytes, endothelial cells, and mesangial cells in glomeruli, which is closely associated with the initiation and progression of glomerular diseases. This review focuses on the role of NADPH oxidase-induced oxidative stress in the pathogenesis of metabolic disease-related renal injury. Understanding of the mechanism may help find potential therapeutic strategies. PMID:27597884

  19. Proteomics and glomerulonephritis: A complementary approach in renal pathology for the identification of chronic kidney disease related markers.

    PubMed

    L'Imperio, Vincenzo; Smith, Andrew; Chinello, Clizia; Pagni, Fabio; Magni, Fulvio

    2016-04-01

    Glomerulonephritis (GN) is one of the most common origins of chronic kidney disease and its careful evaluation is crucial for prognostic and therapeutic purposes, with the renal biopsy still playing a central role for the diagnosis. However, due to its invasiveness, it is not devoid of complications and many investigations have focused on identifying biomarkers for chronic kidney diseases using less-invasive and easy-to-collect samples, such as urine and blood. In this context, proteomics has played a crucial role in determining the molecular changes related to disease progression and early pathological glomerular modifications. Here, we report a review of selected literature for each GN, based on selected works published in the last 10 years, showing how these approaches have generated clinically relevant findings in the study of glomerulonephritis. We also describe several proteomic strategies, highlighting their technical advantages and limitations, future perspectives for proteomic applications in the study of GNs, and their possible application in routine practice. PMID:26642820

  20. Contested boundaries: psychiatry, disease, and diagnosis.

    PubMed

    Rosenberg, Charles E

    2006-01-01

    Since the 19th century, we have come to think of disease in terms of specific entities--entities defined and legitimated in terms of characteristic somatic mechanisms. Since the last third of that century, we have expanded would-be disease categories to include an ever-broader variety of emotional pain, idiosyncrasy, and culturally unsettling behaviors. Psychiatry has been the residuary legatee of these developments, developments that have always been contested at the ever-shifting boundary between disease and deviance, feeling and symptom, the random and the determined, the stigmatized and the value-free. Even in our era of reductionist hopes, psychopharmaceutical practice, and corporate strategies, the legitimacy of many putative disease categories will remain contested. The use of the specific disease entity model will always be a reductionist means to achieve necessarily holistic ends, both in terms of cultural norms and the needs of suffering individuals. Bureaucratic rigidities and stakeholder conflicts structure and intensify such boundary conflicts, as do the interests and activism of an interested lay public. PMID:16960310

  1. A retrospective study of focal segmental glomerulosclerosis: clinical criteria can identify patients at high risk for recurrent disease after first renal transplantation

    PubMed Central

    2013-01-01

    Background Focal segmental glomerulosclerosis (FSGS) is a frequent cause of end-stage renal disease. Renal transplantation in patients with FSGS is often complicated by disease recurrence, which is associated with poor outcome. There are no tests that reliably predict recurrence of FSGS after transplantation. The aim of this study was to evaluate if clinical criteria can identify patients at high risk for recurrent disease. Methods We retrospectively studied 94 patients who received a first renal transplant at a median age of 37 years (range 5–69 years). Patients were assigned to one of three groups: familial or genetic FSGS (group I; n=18), secondary FSGS (group II; n=10) and idiopathic FSGS (group III; n=66). Pretransplant clinical characteristics were analyzed to determine predictors of a recurrence after transplantation. Results FSGS only recurred in patients with idiopathic FSGS (group III; 42%). Patients with a recurrence had a significantly lower serum albumin, higher 24-hour proteinuria and higher estimated glomerular filtration rate at diagnosis. Serum albumin at diagnosis was the only independent predictor of a recurrence in patients with idiopathic FSGS. Patients with recurrent FSGS had more acute rejection episodes (54% vs. 27%, P =0.02) and lower five year graft survival compared to patients without a recurrence (50 vs. 82%, P <0.01). Conclusions Clinical criteria allow identification of patients at high risk of recurrent FSGS after renal transplantation. This information can be used in the counseling and management of patients with FSGS. PMID:23433074

  2. Protective effects of genetic inhibition of Discoidin Domain Receptor 1 in experimental renal disease

    PubMed Central

    Kerroch, Monique; Alfieri, Carlo; Dorison, Aude; Boffa, Jean-Jacques; Chatziantoniou, Christos; Dussaule, Jean-Claude

    2016-01-01

    Chronic kidney disease is a progressive incurable pathology affecting millions of people. Intensive investigations aim to identify targets for therapy. We have previously demonstrated that abnormal expression of the Discoidin Domain Receptor 1 (DDR1) is a key factor of renal disease by promoting inflammation and fibrosis. The present study investigates whether blocking the expression of DDR1 after the initiation of renal disease can delay or arrest the progression of this pathology. Severe renal disease was induced by either injecting nephrotoxic serum (NTS) or performing unilateral ureteral obstruction in mice, and the expression of DDR1 was inhibited by administering antisense oligodeoxynucleotides either at 4 or 8 days after NTS (corresponding to early or more established phases of disease, respectively), or at day 2 after ligation. DDR1 antisense administration at day 4 stopped the increase of proteinuria and protected animals against the progression of glomeruloneprhitis, as evidenced by functional, structural and cellular indexes. Antisense administration at day 8 delayed progression –but to a smaller degree- of renal disease. Similar beneficial effects on renal structure and inflammation were observed with the antisense administration of DDR1 after ureteral ligation. Thus, targeting DDR1 can be a promising strategy in the treatment of chronic kidney disease. PMID:26880216

  3. Protective effects of genetic inhibition of Discoidin Domain Receptor 1 in experimental renal disease.

    PubMed

    Kerroch, Monique; Alfieri, Carlo; Dorison, Aude; Boffa, Jean-Jacques; Chatziantoniou, Christos; Dussaule, Jean-Claude

    2016-01-01

    Chronic kidney disease is a progressive incurable pathology affecting millions of people. Intensive investigations aim to identify targets for therapy. We have previously demonstrated that abnormal expression of the Discoidin Domain Receptor 1 (DDR1) is a key factor of renal disease by promoting inflammation and fibrosis. The present study investigates whether blocking the expression of DDR1 after the initiation of renal disease can delay or arrest the progression of this pathology. Severe renal disease was induced by either injecting nephrotoxic serum (NTS) or performing unilateral ureteral obstruction in mice, and the expression of DDR1 was inhibited by administering antisense oligodeoxynucleotides either at 4 or 8 days after NTS (corresponding to early or more established phases of disease, respectively), or at day 2 after ligation. DDR1 antisense administration at day 4 stopped the increase of proteinuria and protected animals against the progression of glomeruloneprhitis, as evidenced by functional, structural and cellular indexes. Antisense administration at day 8 delayed progression -but to a smaller degree- of renal disease. Similar beneficial effects on renal structure and inflammation were observed with the antisense administration of DDR1 after ureteral ligation. Thus, targeting DDR1 can be a promising strategy in the treatment of chronic kidney disease. PMID:26880216

  4. Diagnosis and management of Parkinson's disease dementia

    PubMed Central

    Poewe, W; Gauthier, S; Aarsland, D; Leverenz, J B; Barone, P; Weintraub, D; Tolosa, E; Dubois, B

    2008-01-01

    Parkinson's disease (PD) has long been considered predominantly a motor disorder. However, its frequent association with dementia, which contributes significantly to the morbidity and mortality of the condition, is gaining increasing recognition. PD dementia (PDD) has a unique clinical profile and neuropathology, distinct from Alzheimer's disease (AD). Cholinergic deficits, a feature of both AD and PDD, underlie the rationale for cholinesterase inhibitor therapy in both conditions. In clinical practice, it is important that PDD should be recognised and appropriately treated. This review aims to outline the recently proposed clinical diagnostic criteria for PDD and to summarise the guidelines/recommendations published since 2006 on the use of cholinesterase inhibitors in the management of PDD. Although the cholinesterase inhibitor rivastigmine has recently been approved for the management of PDD, there remains a need for the development of novel therapies that can affect key mechanisms of the disease or prevent/delay patients with PD and mild cognitive impairment from progressing to PDD. PMID:18822028

  5. Use of computed tomography for measurement of kidneys in dogs without renal disease.

    PubMed

    Hoey, Seamus E; Heder, Brianne L; Hetzel, Scott J; Waller, Kenneth R

    2016-02-01

    OBJECTIVE To determine the size of the left and right kidneys by use of CT in dogs of various breeds without evidence of renal disease. DESIGN Retrospective, observational study. ANIMALS 21 client-owned dogs. PROCEDURES Renal length, diameter of the abdominal aorta, and length of the L2 vertebral body were measured independently on multiplanar reformatted non-contrast-enhanced CT images by 3 observers at 3 time points. Intraobserver and interobserver agreement for renal length were determined. Associations of renal length with body weight, aorta diameter, and L2 vertebral body length were assessed by calculation of Pearson correlation coefficients and 95% confidence intervals. Renal measurements were normalized to patient size by calculating renal length-to-aorta diameter and renal length-to-L2 vertebral body length ratios for comparison with previously published radiographic and ultrasonographic measurements. RESULTS All kidneys were identified and measured on CT images by all observers. Intraobserver and interobserver agreement were excellent. Body weight, aorta diameter, and length of the L2 vertebral body were significantly correlated with renal length. Renal length-to-aorta diameter and renal length-to-L2 vertebral body length ratios (7.4 and 2.7, respectively) fell within the ranges of previously published values for these measurements. CONCLUSIONS AND CLINICAL RELEVANCE As CT becomes more widely available in general practice, knowledge of typical renal measurements and anatomic ratios obtained with this modality in dogs may be useful. A prospective study with a larger population of dogs, ideally including formulation of a reference range, is needed. PMID:26799106

  6. Suitability of Patients with Autosomal Dominant Polycystic Kidney Disease for Renal Transcatheter Arterial Embolization.

    PubMed

    Suwabe, Tatsuya; Ubara, Yoshifumi; Mise, Koki; Ueno, Toshiharu; Sumida, Keiichi; Yamanouchi, Masayuki; Hayami, Noriko; Hoshino, Junichi; Kawada, Masahiro; Imafuku, Aya; Hiramatsu, Rikako; Hasegawa, Eiko; Sawa, Naoki; Takaichi, Kenmei

    2016-07-01

    In patients with autosomal dominant polycystic kidney disease (ADPKD), massive renal enlargement is a serious problem. Renal transcatheter arterial embolization (TAE) can reduce renal volume (RV), but effectiveness varies widely, and the reasons remain unclear. We investigated factors affecting renal volume reduction rate (RVRR) after renal TAE in all 449 patients with ADPKD who received renal TAE at Toranomon Hospital from January of 2006 to July of 2013, including 228 men and 221 women (mean age =57.0±9.1 years old). One year after renal TAE, the RVRR ranged from 3.9% to 84.8%, and the least squares mean RVRR calculated using a linear mixed model was 45.5% (95% confidence interval [95% CI], 44.2% to 46.8%). Multivariate analysis using the linear mixed model revealed that RVRR was affected by the presence of large cysts with wall thickening (regression coefficient [RC], -6.10; 95% CI, -9.04 to -3.16; P<0.001), age (RC, -0.82; 95% CI, -1.03 to -0.60; P<0.001), dialysis duration (RC, -0.10; 95% CI, -0.18 to -0.03; P<0.01), systolic BP (RC, 0.39; 95% CI, 0.19 to 0.59; P<0.001), and the number of microcoils used for renal TAE (RC, 1.35; 95% CI, 0.83 to 1.86; P<0.001). Significantly more microcoils were needed to achieve renal TAE in patients with younger age and shorter dialysis duration. In conclusion, cyst wall thickening had an important effect on cyst volume reduction. Renal TAE was more effective in patients who were younger, had shorter dialysis duration, or had hypertension, parameters that might associate with cyst wall stiffness and renal artery blood flow. PMID:26620095

  7. Lyme disease in children: diagnosis, treatment, and prevention.

    PubMed

    Prose, N S; Abson, K G; Berg, D

    1992-03-01

    Lyme disease is a multisystem disorder that is caused by infection with Borrelia burgdorferi. In endemic areas, its occurrence is extremely common among children. The early diagnosis and treatment of Lyme disease may prevent the development of serious cardiac, rheumatological, and neurological sequelae. For this reason, a full understanding of the clinical manifestations, laboratory evaluation, and antibiotic therapy of Lyme disease is of vital importance. PMID:1550714

  8. C/EBP homologous protein (CHOP) deficiency ameliorates renal fibrosis in unilateral ureteral obstructive kidney disease

    PubMed Central

    Wang, Ching-Chia; Guan, Siao-Syun; Chen, Li-Ping; Chiang, Chih-Kang

    2016-01-01

    Renal tubulointerstitial fibrosis is an important pathogenic feature in chronic kidney disease and end-stage renal disease, regardless of the initiating insults. A recent study has shown that CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) is involved in acute ischemia/reperfusion-related acute kidney injury through oxidative stress induction. However, the influence of CHOP on chronic kidney disease-correlated renal fibrosis remains unclear. Here, we investigated the role of CHOP in unilateral ureteral obstruction (UUO)-induced experimental chronic tubulointerstital fibrosis. The CHOP knockout and wild type mice with or without UUO were used. The results showed that the increased expressions of renal fibrosis markers collagen I, fibronectin, α-smooth muscle actin, and plasminogen activator inhibitor-1 in the kidneys of UUO-treated wild type mice were dramatically attenuated in the kidneys of UUO-treated CHOP knockout mice. CHOP deficiency could also ameliorate lipid peroxidation and endogenous antioxidant enzymes depletion, tubular apoptosis, and inflammatory cells infiltration in the UUO kidneys. These results suggest that CHOP deficiency not only attenuates apoptotic death and oxidative stress in experimental renal fibrosis, but also reduces local inflammation, leading to diminish UUO-induced renal fibrosis. Our findings support that CHOP may be an important signaling molecule in the progression of chronic kidney disease. PMID:26942460

  9. C/EBP homologous protein (CHOP) deficiency ameliorates renal fibrosis in unilateral ureteral obstructive kidney disease.

    PubMed

    Liu, Shing-Hwa; Wu, Cheng-Tien; Huang, Kuo-How; Wang, Ching-Chia; Guan, Siao-Syun; Chen, Li-Ping; Chiang, Chih-Kang

    2016-04-19

    Renal tubulointerstitial fibrosis is an important pathogenic feature in chronic kidney disease and end-stage renal disease, regardless of the initiating insults. A recent study has shown that CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) is involved in acute ischemia/reperfusion-related acute kidney injury through oxidative stress induction. However, the influence of CHOP on chronic kidney disease-correlated renal fibrosis remains unclear. Here, we investigated the role of CHOP in unilateral ureteral obstruction (UUO)-induced experimental chronic tubulointerstital fibrosis. The CHOP knockout and wild type mice with or without UUO were used. The results showed that the increased expressions of renal fibrosis markers collagen I, fibronectin, α-smooth muscle actin, and plasminogen activator inhibitor-1 in the kidneys of UUO-treated wild type mice were dramatically attenuated in the kidneys of UUO-treated CHOP knockout mice. CHOP deficiency could also ameliorate lipid peroxidation and endogenous antioxidant enzymes depletion, tubular apoptosis, and inflammatory cells infiltration in the UUO kidneys. These results suggest that CHOP deficiency not only attenuates apoptotic death and oxidative stress in experimental renal fibrosis, but also reduces local inflammation, leading to diminish UUO-induced renal fibrosis. Our findings support that CHOP may be an important signaling molecule in the progression of chronic kidney disease. PMID:26942460

  10. Pattern of biopsy proven renal diseases at PNS SHIFA, Karachi: A cross-sectional survey

    PubMed Central

    Sabir, Sohail; Mubarak, Muhammed; Ul-Haq, Irfan; Bibi, Aisha

    2013-01-01

    Introduction: Percutaneous renal biopsy (RB) is an invaluable diagnostic procedure in patients with medical renal diseases.Objectives: To determine the pattern of biopsy proven renal disease (BPRD) from a tertiary care naval hospital in Karachi, Pakistan. Methods and Materials: All the renal biopsies in adult patients (≥18 years) performed at our hospital from 2008 to 2012 were retrospectively reviewed. The biopsies were evaluated by light microscopy and immunofluorescence. Results: A total 60 cases were analyzed. The mean age was 33.3±12.9 years (range: 18 to 72 years).The male to female ratio was 3:1. The most common indication of renal biopsy was nephrotic syndrome (43.3%), followed by renal failure (26.6%) and non-nephrotic proteinuria (23.3%). Primary glomerulonephritides (PGN) were predominant overall lesions, found in 46 (76.6%) of the total biopsies. Among PGN, the most common lesion was focal segmental glomerulosclerosis (FSGS), followed by membranous glomerulonephritis (MGN), IgA nephropathy (IgAN) and chronic sclerosing glomerulonephritis (CSGN) and a variety of rare lesions. Secondary glomerulonephritides (SGN) were found in only three (5%) cases. There were two cases of amyloidosis and one of lupus nephritis (LN). Tubulointerstitial disease (TID) and vascular disease were rare. Conclusion: This study provides information about the epidemiology of BPRD in a large tertiary care naval center in Southern Pakistan. PMID:25340152

  11. PAX8 expression in sporadic hemangioblastoma of the kidney supports a primary renal cell lineage: implications for differential diagnosis.

    PubMed

    Zhao, Ming; Williamson, Sean R; Yu, Jingjing; Xia, Wenping; Li, Changshui; Zheng, Jiangjiang; Zhu, Yin; Sun, Ke; Wang, Zhaoming; Cheng, Liang

    2013-10-01

    Hemangioblastoma is a benign, morphologically distinctive neoplasm of disputed histogenesis that typically occurs in the central nervous system either in the setting of von Hippel-Lindau disease or more often sporadically. Extraneural hemangioblastoma is exceptional and raises a challenging differential diagnosis. Herein, we report a primary renal hemangioblastoma occurring in 51-year-old woman without stigmata of von Hippel-Lindau disease. Histologically, the tumor was composed of sheets of polygonal epithelioid stromal cells with ample pale or eosinophilic, vacuolated cytoplasm in an arborizing capillary network. Tumor cells showed variable nuclear pleomorphism, intranuclear cytoplasmic invaginations, scattered hyaline globules, and psammoma-like calcifications. Some areas showed branching hemangiopericytoma-like vessels with tumor cells radiating from the wall, while other areas were edematous and hyalinized with sparse stromal cells and abundant reticular vessels. Immunohistochemically, the tumor cells reacted strongly and diffusely with antibodies to PAX8, CD10, α-inhibin, S100 protein, neuron-specific enolase, and vimentin, and they showed focal positivity with antibodies to epithelial membrane antigen and AE1/AE3. Tumor cells were negative for CK7, CK8/18, RCC antigen, synaptophysin, chromogranin, c-kit, D2-40, HMB45, melan-A, cathepsin K, SMA, desmin, CD31, CD34, and estrogen and progesterone receptors. Positive immunoreactivity for PAX8 is unexpected and contrasts to central nervous system (CNS) hemangioblastomas, which are essentially always negative for PAX8. This novel finding adds support to the hypothesis that the immunoprofile of extraneural hemangioblastoma varies with site of origin, perhaps as a result of tumor cell lineage and retention of organ-specific markers or acquisition of site-specific antigens due to local factors. PMID:23849894

  12. Histopathological retrospective study of canine renal disease in Korea, 2003~2008

    PubMed Central

    Yhee, Ji-Young; Yu, Chi-Ho; Kim, Jong-Hyuk; Im, Keum-Soon; Chon, Seung-Ki

    2010-01-01

    Renal disease includes conditions affecting the glomeruli, tubules, interstitium, pelvis, and vasculature. Diseases of the kidney include glomerular diseases, diseases of the tubules and interstitium, diseases of renal pelvis, and developmental abnormalities. Renal tissue samples (n = 70) submitted to the Department of Veterinary Pathology of Konkuk University from 2003 to 2008 were included in this study. Tissue histopathology was performed using light microscopy with hematoxylin and eosin stains. Masson's trichrome, Congo Red, and Warthin starry silver staining were applied in several individual cases. Glomerular diseases (22.9%), tubulointerstitial diseases (8.6%), neoplastic diseases (8.6%), conditions secondary to urinary obstruction (24.3%), and other diseases (35.7%) were identified. Glomerulonephritis (GN) cases were classified as acute proliferative GN (5.7%), membranous GN (4.3%), membranoproliferative GN (4.3%), focal segmental GN (2.9%), and other GN (4.2%). The proportion of canine GN cases presently identified was not as high as the proportions identified in human studies. Conversely, urinary obstruction and end-stage renal disease cases were relatively higher in dogs than in human populations. PMID:21113095

  13. END STAGE RENAL DISEASE IN PATIENTS WITH WILMS TUMOR: RESULTS FROM THE NATIONAL WILMS TUMOR STUDY GROUP AND THE U.S. RENAL DATA SYSTEM

    PubMed Central

    Breslow, Norman E.; Grigoriev, Yevgeny A.; Peterson, Susan M.; Collins, Allan J.; Ritchey, Michael L.; Green, Daniel M.

    2006-01-01

    Purpose: To accurately assess the full spectrum of end stage renal disease (ESRD) in Wilms tumor survivors by combining the unique resources of the National Wilms Tumor Study Group (NWTSG) and the U.S. Renal Data System (USRDS), and to confirm preliminary reports of an increased incidence of ESRD in those with the Wilms tumor-aniridia (WAGR) syndrome. Material and Methods: ESRD was ascertained for 5,910 patients enrolled on NWTSG studies during 1969-1994 both by record linkage to USRDS and by direct follow-up. Cumulative ESRD incidence was estimated accounting for inter-current mortality. Results: Ten of 115 cases of ESRD (9%) were ascertained by NWTSG alone, 13 (11%) by USRDS alone and 92 (80%) by both. Cumulative incidence of ESRD at 20 years from diagnosis of unilateral Wilms tumor (WT) was 74% for 17 patients with Deny-Drash syndrome (DDS), 36% for 37 patients with WAGR syndrome, 7% for 125 male patients with hypospadias or cryptorchism (GU anomalies) and 0.6% for 5,347 patients with none of these conditions. The incidence for bilateral Wilms tumor was 50% for DDS (n=6), 90% for WAGR (n=10), 25% for GU anomaly (n=25) and 12% for other patients (n=409). ESRD for patients with WAGR syndrome or GU anomalies tended to occur relatively late, often during or after adolescence. Conclusions: The risk of ESRD is remarkably low for the majority of WT patients. Those with WAGR syndrome or associated GU anomalies, however, are at higher risk and should be screened indefinitely to facilitate prospective management of impaired renal function. PMID:16217371

  14. Renal Impairment with Sublethal Tubular Cell Injury in a Chronic Liver Disease Mouse Model

    PubMed Central

    Ishida, Tokiko; Kotani, Hirokazu; Miyao, Masashi; Kawai, Chihiro; Jemail, Leila; Abiru, Hitoshi; Tamaki, Keiji

    2016-01-01

    The pathogenesis of renal impairment in chronic liver diseases (CLDs) has been primarily studied in the advanced stages of hepatic injury. Meanwhile, the pathology of renal impairment in the early phase of CLDs is poorly understood, and animal models to elucidate its mechanisms are needed. Thus, we investigated whether an existing mouse model of CLD induced by 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC) shows renal impairment in the early phase. Renal injury markers, renal histology (including immunohistochemistry for tubular injury markers and transmission electron microscopy), autophagy, and oxidative stress were studied longitudinally in DDC- and standard diet–fed BALB/c mice. Slight but significant renal dysfunction was evident in DDC-fed mice from the early phase. Meanwhile, histological examinations of the kidneys with routine light microscopy did not show definitive morphological findings, and electron microscopic analyses were required to detect limited injuries such as loss of brush border microvilli and mitochondrial deformities. Limited injuries have been recently designated as sublethal tubular cell injury. As humans with renal impairment, either with or without CLD, often show almost normal tubules, sublethal injury has been of particular interest. In this study, the injuries were associated with mitochondrial aberrations and oxidative stress, a possible mechanism for sublethal injury. Intriguingly, two defense mechanisms were associated with this injury that prevent it from progressing to apparent cell death: autophagy and single-cell extrusion with regeneration. Furthermore, the renal impairment of this model progressed to chronic kidney disease with interstitial fibrosis after long-term DDC feeding. These findings indicated that DDC induces renal impairment with sublethal tubular cell injury from the early phase, leading to chronic kidney disease. Importantly, this CLD mouse model could be useful for studying the pathophysiological mechanisms

  15. Cross-Reactive Myelin Antibody Induces Renal Disease

    PubMed Central

    Peterson, Lisa K.; Masaki, Takahisa; Wheelwright, Steven R.; Tsunoda, Ikuo; Fujinami, Robert S.

    2011-01-01

    Experimental autoimmune encephalomyelitis (EAE) is an autoimmune model for multiple sclerosis (MS). Previously, we reported renal immunoglobulin (Ig) deposition in mice with myelin oligodendrocyte glycoprotein (MOG92-106) induced progressive-EAE and naïve mice injected with MOG92-106 hybridoma cells producing antibody that cross-reacts with various autoantigens including double-stranded DNA. To assess whether MOG92-106 antibodies actually induce kidney changes, the extent of renal Ig deposition and changes in glomerular histology and filtration were investigated. Mice with progressive-EAE exhibited Ig deposition, glomerular hypercellularity and proteinuria indicating kidney dysfunction. MOG92-106 hybridoma cell injected mice also had Ig in the kidneys and proteinuria. Therefore, sensitization with MOG92-106 and transfer of MOG92-106 antibodies can induce both central nervous system and renal pathology. The renal involvement reported in MS is believed to occur as a side effect of nephrotoxic drugs or neurogenic bladder. Our results demonstrate that an autoimmune response against myelin could induce pathologic changes in the kidney and may help explain renal changes reported in patients with progressive MS. PMID:18608179

  16. Molecular diagnosis of infectious diseases using cytological specimens.

    PubMed

    Canberk, Sule; Longatto-Filho, Adhemar; Schmitt, Fernando

    2016-02-01

    Pathologists have an important role in the diagnosis of infectious disease (ID). In many cases, a definitive diagnosis can be made using cytopathology alone. However, several ancillary techniques can be used on cytological material to reach a specific diagnosis by identifying the causative agent and consequently defining the management of the patient. This review aims to present the effectiveness of the application of molecular studies on cytological material to diagnose IDs and discuss the advantages and disadvantages of the various molecular techniques according to the type of cytological specimen and the infectious agents. PMID:26620694

  17. A Comparative Study of Sonographic Grading of Renal Parenchymal Changes and Estimated Glomerular Filtration Rate (eGFR) using Modified Diet in Renal Disease Formula

    PubMed Central

    Shivalli, Siddharudha; Pai, B.H. Santhosh; Acharya, Koteshwara Devadasa; Gopalakrishnan, Ravichandra; Srikanth, Vivek; Reddy, Vishwanath; Haris, Arafat

    2016-01-01

    Introduction The sonographic findings are of help in evaluating the nephrological diseases. Glomerular filtration rate is another parameter for assessing the reserved renal function and an indicator of prognosis. In clinical practice GFR estimation (eGFR) is done by using a mathematical formula. In our study, we compared the sonographic grading of renal parenchymal changes with eGFR calculated using Modified Diet in Renal Diseases formula based on serum creatinine, age, gender and ethnicity. Aim To evaluate the relevance of sonographic grading of renal parenchymal changes in assessing the severity of the renal disease and comparing it to the eGFR calculated using MDRD formula based on the age, gender and serum creatinine value of the patient. Materials and Methods The adult patients with suspected kidney disease referred for sonography of abdomen were our study participants. As per our study design following strict inclusion and exclusion criteria, patients were selected as study participants and for each of the patient’s renal parenchymal status, serum creatinine, age, gender and ethnicity were documented. Results A total of 70 patients were our study participants, out of which 67.1% were males and 32.9% were females. Our study showed a linear correlation between sonographic grading of renal parenchymal changes with eGFR. Conclusion We conclude that by evaluating the kidneys with sonography and calculating eGFR using MDRD formula the renal status will be more accurately interpreted. PMID:27042555

  18. [Decline in renal function in old age : Part of physiological aging versus age-related disease].

    PubMed

    Braun, F; Brinkkötter, P T

    2016-08-01

    The incidence and prevalence of chronic renal disease (CKD) in elderly patients are continuously increasing worldwide. Loss of renal function is not only considered to be part of the aging process itself but also reflects the multimorbidity of many geriatric patients. Calculating the glomerular filtration rate using specific algorithms validated for the elderly population and measuring the amount of proteinuria allow an estimation of renal function in elderly patients with high accuracy. Chronic renal failure has many clinical consequences and not only results in a delayed excretion of toxins cleared by the kidneys but also affects hematogenesis, water and electrolyte balance as well as mineral bone metabolism. Furthermore, CKD directly leads to and aggravates geriatric syndromes and in particular the onset of frailty. Therapeutic strategies to halt progression of CKD not only comprise treatment of the underlying disease but also efficient blood pressure and diabetic control and the avoidance of nephrotoxic medications. PMID:27457360

  19. Periodontitis and the end-stage renal disease patient receiving hemodialysis maintenance therapy.

    PubMed

    Craig, Ronald G; Kotanko, Peter

    2009-10-01

    Atherosclerotic complications, including myocardial infarction and stroke, are highly prevalent and associated with increased systemic inflammation in patients who have end-stage renal disease (ESRD) and are receiving renal hemodialysis maintenance therapy. In the general population, an increasing body of evidence suggests periodontitis can contribute to systemic inflammation and may contribute to atherosclerotic complications. In addition, results of recent interventional trials suggest effective periodontal therapy may decrease systemic inflammation as well as endothelial dysfunction, an early predictor of atherosclerotic complications. Because moderate-to-severe periodontitis appears to be highly prevalent in the renal hemodialysis population, effective periodontal therapy may reduce systemic inflammation and thereby become a treatment consideration for this population. This article will acquaint dental practitioners with ESRD and the association between systemic inflammation and mortality. Also discussed are the possible contributions of destructive periodontal diseases to systemic inflammation and the dental management of patients receiving renal replacement therapies. PMID:19824568

  20. Diagnosis, disease stage, and distress of Chinese cancer patients

    PubMed Central

    Huang, Boyan; Chen, Huiping; Deng, Yaotiao; Yi, Tingwu; Wang, Yuqing

    2016-01-01

    Background The objective is to assess how cancer patients know about their diagnosis what they know about their real stage, and the relationship between cancer stage and psychological distress. Methods A questionnaire including the Distress Thermometer was delivered to 422 cancer inpatients. Multivariate logistic regression analysis was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Results Most of patients (68.7%) knew the bad news immediately after diagnosis. Half of patients knew their diagnosis directly from medical reports. Nearly one third of patients were informed by doctors. Cancer stages, which patients believed, differed significantly from their real disease stages (P<0.001). Over half of patients did not know their real disease stages. Patients with stage I–III cancer were more likely to know their real disease stage than patients with stage IV cancer (P<0.001). Distress scores of cancer patients were determined by the real cancer stage (P=0.012), not the stage which patients believed. Conclusions Although most of participants knew the bad news immediately after diagnosis, less than half of them knew their real disease stage. Patient with stage I–III cancer was more likely to know the real disease stage and had a DT score <4 than patient with stage IV disease. PMID:27004220

  1. End-Stage Renal Disease From Cast Nephropathy in a Teenager With Neuroendocrine Carcinoma.

    PubMed

    Butani, Lavjay; Ducore, Jonathan

    2016-07-01

    Cast nephropathy is the most common manifestation of renal injury in patients with multiple myeloma but is rarely reported in other conditions. We are reporting our experience in caring for a teenager with a metastatic neuroendocrine carcinoma who developed rapidly progressive kidney injury that advanced to end-stage renal disease. On renal biopsy extensive tubular necrosis and intratubular eosinophilic casts were noted. This previously unreported finding should prompt oncologists to closely monitor for such a complication in patients with secretory tumors. Whether early plasmapheresis could be of benefit, as has been tried in multiple myeloma, remains to be determined. PMID:26989910

  2. Renal Infarction Caused by Isolated Spontaneous Renal Artery Intramural Hematoma

    PubMed Central

    Park, Sihyung; Lee, Ga Hee; Jin, Kyubok; Park, Kang Min; Kim, Yang Wook; Park, Bong Soo

    2015-01-01

    Patient: Male, 46 Final Diagnosis: Renal infarction Symptoms: Flank pain Medication: — Clinical Procedure: CT Specialty: Nephrology Objective: Rare disease Background: Acute renal infarction is an uncommon condition resulting from an obstruction or a decrease in renal arterial blood flow. Isolated spontaneous renal artery intramural hematoma is a rare cause of renal infarction. Case Report: A 46-year-old healthy man presented to our emergency room because of sudden onset of severe right flank pain. An enhanced abdominal computed tomography scan showed a low-attenuated lesion in the lateral portion of the right kidney but no visible thromboembolisms in the main vessels. Computed tomography angiography revealed acute infarction resulting from intramural hematoma of the anterior segmental artery of the right kidney, with distal occlusion. Conclusions: The rarity and non-specific clinical presentation of renal infarction often lead to a delayed diagnosis that may result in impaired renal function. Clinical suspicion is important in the early diagnosis, and intramural hematoma of the renal artery should be considered the cause of renal infarction even in healthy patients without pre-disposing factors. PMID:26596500

  3. Laboratory Diagnosis of Mycobacterium tuberculosis Infection and Disease in Children.

    PubMed

    Dunn, James J; Starke, Jeffrey R; Revell, Paula A

    2016-06-01

    Diagnosis of tuberculosis in children is challenging; even with advanced technologies, the diagnosis is often difficult to confirm microbiologically in part due to the paucibacillary nature of the disease. Clinical diagnosis lacks standardization, and traditional and molecular microbiologic methods lack sensitivity, particularly in children. Immunodiagnostic tests may improve sensitivity, but these tests cannot distinguish tuberculosis disease from latent infection and some lack specificity. While molecular tools like Xpert MTB/RIF have advanced our ability to detect Mycobacterium tuberculosis and to determine antimicrobial resistance, decades old technologies remain the standard in most locales. Today, the battle against this ancient disease still poses one of the primary diagnostic challenges in pediatric laboratory medicine. PMID:26984977

  4. Low Serum Complement C3 Levels at Diagnosis of Renal ANCA-Associated Vasculitis Is Associated with Poor Prognosis

    PubMed Central

    Augusto, Jean-François; Langs, Virginie; Demiselle, Julien; Lavigne, Christian; Brilland, Benoit; Duveau, Agnès; Poli, Caroline; Chevailler, Alain; Croue, Anne; Tollis, Frederic; Sayegh, Johnny; Subra, Jean-François

    2016-01-01

    Background Recent studies have demonstrated the key role of the complement alternative pathway (cAP) in the pathophysiology of experimental ANCA-associated vasculitis (AAV). However, in human AAV the role of cAP has not been extensively explored. In the present work, we analysed circulating serum C3 levels measured at AAV onset and their relation to outcomes. Methods We conducted a retrospective observational cohort study including 45 consecutive patients with AAV diagnosed between 2000 and 2014 with serum C3 measurement at diagnosis, before immunosuppressive treatment initiation. Two groups were defined according to the median serum C3 level value: the low C3 group (C3<120 mg/dL) and the high C3 level group (C3≥120 mg/dL). Patient and renal survivals, association between C3 level and renal pathology were analysed. Results Serum complement C3 concentration remained in the normal range [78–184 mg/dL]. Compared with the high C3 level, the patients in the low C3 level group had lower complement C4 concentrations (P = 0.008) and lower eGFR (P = 0.002) at diagnosis. The low C3 level group had poorer patient and death-censored renal survivals, compared with the high C3 level group (P = 0.047 and P = 0.001, respectively). We observed a significant negative correlation between C3 levels and the percentage of glomeruli affected by cellular crescent (P = 0.017, r = -0.407). According to the Berden et al renal histologic classification, patients in the crescentic/mixed category had low C3 levels more frequently (P<0.01). Interestingly, we observed that when patients with the crescentic/mixed histologic form were analysed according to C3 level, long term renal survival was significantly greater in the high C3 level group than in the low C3 level group (100% vs 40.7% at 6 years, p = 0.046). No relationship between serum C4 and renal outcome was observed. Conclusion A Low C3 serum level in AAV patients at diagnosis is associated with worse long-term patient and renal

  5. An Update on Laboratory Diagnosis of Liver Inherited Diseases

    PubMed Central

    Elce, Ausilia; Amato, Felice

    2013-01-01

    Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement. They include Wilson's disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency. In addition, cystic fibrosis, although it is not specifically a liver disease, may cause a severe liver involvement in a significant percentage of cases. For all these pathologies, the disease gene is known, and molecular analysis may contribute to the unequivocal diagnosis. This approach could avoid the patient invasive procedures and limit complications associated with a delay in diagnosis. We review liver inherited diseases on the basis of the genetic defect, focusing on the contribution of molecular analysis in the multistep diagnostic workup. PMID:24222913

  6. New strategies for diagnosis and management of celiac disease.

    PubMed

    Westerberg, Dyanne P; Gill, James M; Dave, Bhavin; DiPrinzio, Marie J; Quisel, Anna; Foy, Andrew

    2006-03-01

    Celiac disease is a gastrointestinal disorder characterized by inflammation, leading to injury to the mucosal lining of the small intestine. The inflammation occurs when gliadin, a protein found in such gluten-containing foods as wheat, rye, and barley, is ingested by genetically susceptible individuals. The mucosal damage and subsequent malabsorption of nutrients leads to various complications. Researchers estimate that more than 2 million people in the United States have celiac disease-a prevalence that is greater than was previously believed. Approximately 60,000 Americans are diagnosed annually with celiac disease. Until recently, diagnosis has been complicated by the fact that the indicators of celiac disease are nonspecific. However, because of the development of new, easy-to-administer serology tests, diagnosis has become much less complicated. After conducting a review of the literature, the authors recommend a serologic testing sequence for diagnosis of celiac disease and urge that adults and children with an assortment of symptoms be tested for this disease. Common signs and symptoms of celiac disease include anemia, arthralgia, fatigue, infertility, neuropathy, and weight loss, in addition to such gastrointestinal symptomatology as abdominal pain, anorexia, bloating, constipation, and diarrhea. The only treatment for patients with celiac disease remains a gluten-free diet. PMID:16585382

  7. Management of the oral and maxillofacial surgery patient with end-stage renal disease.

    PubMed

    Ziccardi, V B; Saini, J; Demas, P N; Braun, T W

    1992-11-01

    Chronic renal failure (CRF) is the consequence of a multitude of diseases that cause permanent destruction of the nephron. Concurrent with renal failure are a host of changes affecting the homeostatic functioning of the individual. This report outlines the pathophysiology of CRF and highlights its effects on surgical manipulation of the oral and maxillofacial region in this patient population. In addition, some of the common physical findings and alterations in blood chemistries frequently observed in these patients are discussed. PMID:1403277

  8. En Bloc Retroperitoneoscopic Removal of Horseshoe Kidney for End-stage Renal Disease.

    PubMed

    Weatherly, David; Budzyn, Brian; Steinhardt, George F; Barber, Theodore D

    2015-10-01

    Horseshoe kidney (HSK) is the most common renal fusion anomaly. There have been reports of an association of HSKs with medical renal disease. We report a case of a child with nephrotic-range proteinuria and a HSK. As the patient was on peritoneal dialysis, the entire HSK was removed en bloc via a retroperitoneoscopic approach with early postoperative reinitiation of peritoneal dialysis. PMID:26254173

  9. Secondary prevention of renal and cardiovascular disease: results of a renal and cardiovascular treatment program in an Australian aboriginal community.

    PubMed

    Hoy, Wendy E; Wang, Zhiqiang; Baker, Philip R A; Kelly, Angela M

    2003-07-01

    Australian Aborigines are experiencing an epidemic of renal and cardiovascular disease. In late 1995 we introduced a treatment program into the Tiwi community, which has a three- to fivefold increase in death rates and a recent annual incidence of treated ESRD of 2760 per million. Eligible for treatment were people with hypertension, diabetics with micro or overt albuminuria, and all people with overt albuminuria. Treatment centered around use of perindopril (Coversyl, Servier), with other agents added to reach BP goals; attempts to control glucose and lipid levels; and health education. Thirty percent of the adult population, or 267 people, were enrolled, with a mean follow up of 3.39 yr. Clinical parameters were followed every 6 mo, and rates of terminal endpoints were compared with those of 327 historical controls matched for baseline disease severity, followed in the pretreatment program era. There was a dramatic reduction in BP in the treatment group, which was sustained through 3 yr of treatment. Albuminuria and GFR stabilized or improved. Rates of natural deaths were reduced by an estimated 50% (P = 0.012); renal deaths were reduced by 57% (P = 0.038); and nonrenal deaths by 46% (P = 0.085). Survival benefit was suggested at all levels of overt albuminuria, and regardless of diabetes status, baseline BP, or prior administration of angiotensin converting enzyme inhibitors (ACEI). No significant benefit was apparent among people without overt albuminuria, nor among those with GFR less than 60 ml/min. An estimated 13 renal deaths and 10 nonrenal deaths were prevented, with the number-needed-to-treat to avoid one terminal event of only 11.6. Falling deaths and renal failure in the whole community support these estimates. The program was extremely cost-effective. Programs like this should be introduced to all high-risk communities as a matter of urgency. PMID:12819325

  10. Usefulness of resistive index on spectral Doppler ultrasonography in the detection of renal cell carcinoma in patients with end-stage renal disease

    PubMed Central

    2014-01-01

    Purpose: The aim of this study was to explore the usefulness of the resistive index (RI) on spectral Doppler ultrasonography (US) in the detection of renal cell carcinoma (RCC) in patients with end-stage renal disease (ESRD). Methods: Seventeen ESRD patients with kidneys in which renal masses were suspected in routine US were subjected. They underwent computed tomography scans and additional Doppler US for the characterization of the detected lesions. All underwent radical nephrectomy with the suspicion of RCC. Fourteen patients finally were included. RI measurements were conducted in the region of the suspected renal mass and the background renal parenchyma. The intraclass correlation coefficient was used to assess the reproducibility of the RI measurement. A paired t-test was used to compare the RI values between the renal mass and the background renal parenchyma (P<0.05). Results: The RI values measured at the RCCs were significantly lower than those measured at the background renal parenchyma (0.41-0.65 vs. 0.75-0.89; P<0.001). The intrareader reproducibility proved to be excellent and good for the renal masses and the parenchyma, respectively (P<0.001). Conclusion: RI on spectral Doppler US is useful in detecting RCC in patients with ESRD. The RI values measured at the RCCs were significantly lower than those measured at the background renal parenchyma. PMID:24936507

  11. Multimodality imaging in clinical diagnosis and treatment of macular disease

    NASA Astrophysics Data System (ADS)

    Taibl, Jessica N.; Sayegh, Samir I.

    2013-03-01

    Accurate diagnosis and treatment of disease is a function of how well the pathology can be imaged. Coregistering images from different modalities can offer significant advantages. Multi-modal imaging is finding its place in Ophthalmology and we illustrate and analyze its use in macular disease. New technologies have provided the ability to simultaneously capture FA and OCT images, allowing dynamic analysis at the exact point of interest. We establish that the combined imaging protocol is easier and faster for both patient and technician, and ultimately and most importantly more capable of guiding the physician to a diagnosis and treatment.

  12. Amyloid imaging with PET in early Alzheimer disease diagnosis.

    PubMed

    Rowe, Christopher C; Villemagne, Victor L

    2013-05-01

    In vivo imaging of amyloid-β (Aβ) with positron emission tomography has moved from the research arena into clinical practice. Clinicians working with cognitive decline and dementia must become familiar with its benefits and limitations. Amyloid imaging allows earlier diagnosis of Alzheimer disease and better differential diagnosis of dementia and provides prognostic information for mild cognitive impairment. It also has an increasingly important role in therapeutic trial recruitment and for evaluation of anti-Aβ treatments. Longitudinal observations are required to elucidate the role of Aβ deposition in the course of Alzheimer disease and provide information needed to fully use the prognostic power of this investigation. PMID:23642577

  13. Chip-Based Sensors for Disease Diagnosis

    NASA Astrophysics Data System (ADS)

    Fang, Zhichao

    Nucleic acid analysis is one of the most important disease diagnostic approaches in medical practice, and has been commonly used in cancer biomarker detection, bacterial speciation and many other fields in laboratory. Currently, the application of powerful research methods for genetic analysis, including the polymerase chain reaction (PCR), DNA sequencing, and gene expression profiling using fluorescence microarrays, are not widely used in hospitals and extended-care units due to high-cost, long detection times, and extensive sample preparation. Bioassays, especially chip-based electrochemical sensors, may be suitable for the next generation of rapid, sensitive, and multiplexed detection tools. Herein, we report three different microelectrode platforms with capabilities enabled by nano- and microtechnology: nanoelectrode ensembles (NEEs), nanostructured microelectrodes (NMEs), and hierarchical nanostructured microelectrodes (HNMEs), all of which are able to directly detect unpurified RNA in clinical samples without enzymatic amplification. Biomarkers that are cancer and infectious disease relevant to clinical medicine were chosen to be the targets. Markers were successfully detected with clinically-relevant sensitivity. Using peptide nucleic acids (PNAs) as probes and an electrocatalytic reporter system, NEEs were able to detect prostate cancer-related gene fusions in tumor tissue samples with 100 ng of RNA. The development of NMEs improved the sensitivity of the assay further to 10 aM of DNA target, and multiplexed detection of RNA sequences of different prostate cancer-related gene fusion types was achieved on the chip-based NMEs platform. An HNMEs chip integrated with a bacterial lysis device was able to detect as few as 25 cfu bacteria in 30 minutes and monitor the detection in real time. Bacterial detection could also be performed in neat urine samples. The development of these versatile clinical diagnostic tools could be extended to the detection of various

  14. 42 CFR 413.210 - Conditions for payment under the end-stage renal disease (ESRD) prospective payment system.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... disease (ESRD) prospective payment system. 413.210 Section 413.210 Public Health CENTERS FOR MEDICARE... REIMBURSEMENT; PAYMENT FOR END-STAGE RENAL DISEASE SERVICES; OPTIONAL PROSPECTIVELY DETERMINED PAYMENT RATES FOR SKILLED NURSING FACILITIES Payment for End-Stage Renal Disease (ESRD) Services and Organ Procurement...

  15. 42 CFR 413.210 - Conditions for payment under the end-stage renal disease (ESRD) prospective payment system.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... disease (ESRD) prospective payment system. 413.210 Section 413.210 Public Health CENTERS FOR MEDICARE... REIMBURSEMENT; PAYMENT FOR END-STAGE RENAL DISEASE SERVICES; OPTIONAL PROSPECTIVELY DETERMINED PAYMENT RATES FOR SKILLED NURSING FACILITIES Payment for End-Stage Renal Disease (ESRD) Services and Organ Procurement...

  16. 42 CFR 413.210 - Conditions for payment under the end-stage renal disease (ESRD) prospective payment system.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... disease (ESRD) prospective payment system. 413.210 Section 413.210 Public Health CENTERS FOR MEDICARE... REIMBURSEMENT; PAYMENT FOR END-STAGE RENAL DISEASE SERVICES; OPTIONAL PROSPECTIVELY DETERMINED PAYMENT RATES FOR SKILLED NURSING FACILITIES Payment for End-Stage Renal Disease (ESRD) Services and Organ Procurement...

  17. 42 CFR 413.210 - Conditions for payment under the end-stage renal disease (ESRD) prospective payment system.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... disease (ESRD) prospective payment system. 413.210 Section 413.210 Public Health CENTERS FOR MEDICARE... REIMBURSEMENT; PAYMENT FOR END-STAGE RENAL DISEASE SERVICES; OPTIONAL PROSPECTIVELY DETERMINED PAYMENT RATES FOR SKILLED NURSING FACILITIES Payment for End-Stage Renal Disease (ESRD) Services and Organ Procurement...

  18. 42 CFR 413.210 - Conditions for payment under the end-stage renal disease (ESRD) prospective payment system.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... disease (ESRD) prospective payment system. 413.210 Section 413.210 Public Health CENTERS FOR MEDICARE... REIMBURSEMENT; PAYMENT FOR END-STAGE RENAL DISEASE SERVICES; OPTIONAL PROSPECTIVELY DETERMINED PAYMENT RATES FOR SKILLED NURSING FACILITIES Payment for End-Stage Renal Disease (ESRD) Services and Organ Procurement...

  19. Management of atherosclerotic renovascular disease after Cardiovascular Outcomes in Renal Atherosclerotic Lesions (CORAL).

    PubMed

    Herrmann, Sandra M S; Saad, Ahmed; Textor, Stephen C

    2015-03-01

    Many patients with occlusive atherosclerotic renovascular disease (ARVD) may be managed effectively with medical therapy for several years without endovascular stenting, as demonstrated by randomized, prospective trials including the Cardiovascular Outcomes in Renal Atherosclerotic Lesions (CORAL) trial, the Angioplasty and Stenting for Renal Artery Lesions (ASTRAL) trial and the Stent Placement and Blood Pressure and Lipid-Lowering for the Prevention of Progression of Renal Dysfunction Caused by Atherosclerotic Ostial Stenosis of the Renal Artery (STAR) and ASTRAL. These trials share the limitation of excluding subsets of patients with high-risk clinical presentations, including episodic pulmonary edema and rapidly progressing renal failure and hypertension. Although hemodynamically significant, ARVD can reduce renal blood flow and glomerular filtration rate; adaptive mechanisms preserve both cortical and medullary oxygenation over a wide range of vascular occlusion. Progression of ARVD to severe vascular compromise eventually produces cortical hypoxia, however, associated with active inflammatory cytokine release and cellular infiltration of the renal parenchyma. In such cases ARVD produces a loss of glomerular filtration rate that no longer is reversible simply by restoring vessel patency with technically successful renal revascularization. Each of these trials reported adverse renal functional outcomes ranging between 16 and 22% over periods of 2-5 years of follow-up. Blood pressure control and medication adjustment may become more difficult with declining renal function and may prevent the use of angiotensin receptor blocker and angiotensin-converting enzyme inhibitors. The objective of this review is to evaluate the current management of ARVD for clinical nephrologists in the context of recent randomized clinical trials and experimental research. PMID:24723543

  20. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

    PubMed Central

    Kim, Jong S.

    2016-01-01

    Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals. PMID:26846755

  1. Optical diagnosis of a metabolic disease: cystinosis

    NASA Astrophysics Data System (ADS)

    Cinotti, Elisa; Perrot, Jean Luc; Labeille, Bruno; Espinasse, Marine; Ouerdane, Youcef; Boukenter, Aziz; Thuret, Gilles; Gain, Philippe; Campolmi, Nelly; Douchet, Catherine; Cambazard, Frédéric

    2013-04-01

    Nephropathic cystinosis (NC) is a rare autosomal recessive storage disease characterized by the lysosomal accumulation of cystine crystals throughout the body, particularly in blood cells, the cornea, skin, kidneys, the central nervous system, and the muscles. The skin and the cornea are the most accessible sites to explore, and in vivo reflectance confocal microscopy (IVCM) helps identify crystals in both but does not provide any information to help define their composition. Raman spectroscopy (RS) allows cystine to be easily recognized thanks to its characteristic signature with a band at 499 cm-1. Two dermatology confocal microscopes were used to visualize crystals in both the skin and the ocular surface of a cystinosis patient, and an ex vivo Raman examination of a skin biopsy and of the cornea was performed and removed during a corneal graft to confirm the cystine composition of the crystals. Recently, RS has been performed in vivo and coupled with IVCM. In the future, it is suggested that crystals in NC and other deposits in storage diseases could be identified with this noninvasive in vivo technique that combines IVCM to recognize the deposits and RS to confirm their chemical nature.

  2. [Markers for non-invasive molecular genetic diagnosis of oncourological diseases].

    PubMed

    Mikhaĭlenko, D S; Perepechin, D V; Apolikhin, O I; Efremov, G D; Sivkov, A V

    2014-01-01

    Currently, there is accumulated mass of data on the molecular-genetic disorders in prostate cancer (PCa), bladder cancer (BC) and renal cancer (RC). Tumor cells in these diseases are present in the urine sediment; their number is sufficient for molecular genetic analysis that makes possible the development of noninvasive diagnosis of oncourological diseases. A characteristic feature of PCa includes the overexpression of the PCA3 gene; assay kit Progensa™ to quantify such overexpression has been developed; approximately 50% of tumors express a TMPRSS2-ERG chimeric oncogene. Combined analysis of PCA3 and TMPRSS2-ERG allows to detect PCa with a diagnostic accuracy of 84%, which is significantly higher than that of prostate specific antigen test. As a potential markers of BC, there are somatic mutations in FGFR3, PIK3CA, TERT genes in urine sediment, which are found in this disease with a frequency of about 60, 30 and 50%, respectively. The basis of the test system for DNA diagnosis of BC in urine sediment may include a definition of a combination of mutations in these genes with microsatellite instability. Aberrant methylation of the 5'-regulatory regions of tumor suppressor genes, integrated in the panel, also is considered as a tool in the diagnosis of RC (VHL, RASSF1, RARB2, CDH1), PCa (GSTP1, PTGS2, LGALS3) and BC (RASSF1, APC, SFRP2) after standardization of panels of loci investigated, sample preparation methods, bisulfite conversion, and the design of primers and probes. Thus, a test systems for molecular genetic diagnosis of oncourological diseases in urine sediment are currently available or may be developed in the near future. PMID:25807773

  3. [HYPERURICEMIA AND POTENTIAL RISK OF CARDIOVASCULAR AND RENAL DISEASES].

    PubMed

    Schils, R; Krzesinski, J M

    2016-05-01

    Besides the well accepted need to treat hyperuricemia associated with gout, some large observational studies and small prospective therapeutic trials have suggested that treating asymptomatic hyperuricemia, especially by xanthine oxidase inhibition, the enzyme producing uric acid, could be beneficial for cardiovascular and renal risk prevention. This article discusses the literature about this promising approach, which, however, requests prospective validation. PMID:27337847

  4. Hypertension, End-Stage Renal Disease and Rehabilitation: A Look at Black Americans.

    ERIC Educational Resources Information Center

    Livingston, Ivor Lensworth; Ackah, Samuel

    1992-01-01

    Reviews the important relationship between end-stage renal disease (ESRD) and hypertension for African Americans; and considers issues associated with ESRD and the subsequent need for kidney transplants, including organ availability. Individual and societal implications of these diseases are discussed. (SLD)

  5. 42 CFR 488.60 - Special procedures for approving end stage renal disease facilities.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... disease facilities. 488.60 Section 488.60 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES... ENFORCEMENT PROCEDURES Special Requirements § 488.60 Special procedures for approving end stage renal disease... achievement of ESRD program objectives. (c) New applicant. A facility which has not previously participated...

  6. 42 CFR 488.60 - Special procedures for approving end stage renal disease facilities.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... disease facilities. 488.60 Section 488.60 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES... ENFORCEMENT PROCEDURES Special Requirements § 488.60 Special procedures for approving end stage renal disease... achievement of ESRD program objectives. (c) New applicant. A facility which has not previously participated...

  7. 42 CFR 488.60 - Special procedures for approving end stage renal disease facilities.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... disease facilities. 488.60 Section 488.60 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES... ENFORCEMENT PROCEDURES Special Requirements § 488.60 Special procedures for approving end stage renal disease... achievement of ESRD program objectives. (c) New applicant. A facility which has not previously participated...

  8. 42 CFR 488.60 - Special procedures for approving end stage renal disease facilities.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... disease facilities. 488.60 Section 488.60 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES... ENFORCEMENT PROCEDURES Special Requirements § 488.60 Special procedures for approving end stage renal disease... achievement of ESRD program objectives. (c) New applicant. A facility which has not previously participated...

  9. 42 CFR 488.60 - Special procedures for approving end stage renal disease facilities.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... disease facilities. 488.60 Section 488.60 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES... ENFORCEMENT PROCEDURES Special Requirements § 488.60 Special procedures for approving end stage renal disease... achievement of ESRD program objectives. (c) New applicant. A facility which has not previously participated...

  10. Marriage and End-Stage Renal Disease: Implications for African Americans

    ERIC Educational Resources Information Center

    Shortridge, Emily F.; James, Cara V.

    2010-01-01

    African Americans are disproportionately represented among patients with end-stage renal disease (ESRD). ESRD is managed with a strict routine that might include regular dialysis as well as dietary, fluid intake, and other lifestyle changes. In a disease such as this, with such disruptive treatment modalities, marriage, specifically, and its ties…

  11. Advances in Diagnosis of Respiratory Diseases of Small Ruminants

    PubMed Central

    Chakraborty, Sandip; Kumar, Amit; Tiwari, Ruchi; Rahal, Anu; Malik, Yash; Dhama, Kuldeep; Pal, Amar; Prasad, Minakshi

    2014-01-01

    Irrespective of aetiology, infectious respiratory diseases of sheep and goats contribute to 5.6 percent of the total diseases of small ruminants. These infectious respiratory disorders are divided into two groups: the diseases of upper respiratory tract, namely, nasal myiasis and enzootic nasal tumors, and diseases of lower respiratory tract, namely, peste des petits ruminants (PPR), parainfluenza, Pasteurellosis, Ovine progressive pneumonia, mycoplasmosis, caprine arthritis encephalitis virus, caseous lymphadenitis, verminous pneumonia, and many others. Depending upon aetiology, many of them are acute and fatal in nature. Early, rapid, and specific diagnosis of such diseases holds great importance to reduce the losses. The advanced enzyme-linked immunosorbent assays (ELISAs) for the detection of antigen as well as antibodies directly from the samples and molecular diagnostic assays along with microsatellites comprehensively assist in diagnosis as well as treatment and epidemiological studies. The present review discusses the advancements made in the diagnosis of common infectious respiratory diseases of sheep and goats. It would update the knowledge and help in adapting and implementing appropriate, timely, and confirmatory diagnostic procedures. Moreover, it would assist in designing appropriate prevention protocols and devising suitable control strategies to overcome respiratory diseases and alleviate the economic losses. PMID:25028620

  12. Renal and adrenal tumors: Pathology, radiology, ultrasonography, therapy, immunology

    SciTech Connect

    Lohr, E.; Leder, L.D.

    1987-01-01

    Aspects as diverse as radiology, pathology, urology, pediatrics and immunology have been brought together in one book. The most up-do-date methods of tumor diagnosis by CT, NMR, and ultrasound are covered, as are methods of catheter embolization and radiation techniques in case of primarily inoperable tumors. Contents: Pathology of Renal and Adrenal Neoplasms; Ultrasound Diagnosis of Renal and Pararenal Tumors; Computed-Body-Tomography of Renal Carcinoma and Perirenal Masses; Magnetic Resonance Imaging of Renal Mass Lesions; I-125 Embolotherapy of Renal Tumors; Adrenal Mass Lesions in Infants and Children; Computed Tomography of the Adrenal Glands; Scintigraphic Studies of Renal and Adrenal Function; Surgical Management of Renal Cell Carcinoma; Operative Therapy of Nephroblastoma; Nonoperative Treatment of Renal Cell Carcinoma; Prenatal Wilms' Tumor; Congenital Neuroblastoma; Nonsurgical Management of Wilms' Tumor; Immunologic Aspects of Malignant Renal Disease.

  13. Nuclear medicine in acute and chronic renal failure

    SciTech Connect

    Sherman, R.A.; Byun, K.J.

    1982-07-01

    The diagnostic value of renal scintiscans in patients with acute or chronic renal failure has not been emphasized other than for the estimation of renal size. /sup 131/I OIH, /sup 67/gallium, /sup 99m/TcDTPA, glucoheptonate and DMSA all may be valuable in a variety of specific settings. Acute renal failure due to acute tubular necrosis, hepatorenal syndrome, acute interstitial nephritis, cortical necrosis, renal artery embolism, or acute pyelonephritis may be recognized. Data useful in the diagnosis and management of the patient with obstructive or reflux nephropathy may be obtained. Radionuclide studies in patients with chronic renal failure may help make apparent such causes as renal artery stenosis, chronic pyelonephritis or lymphomatous kidney infiltration. Future correlation of scanning results with renal pathology promises to further expand nuclear medicine's utility in the noninvasive diagnosis of renal disease.

  14. Association-rule-based tuberculosis disease diagnosis

    NASA Astrophysics Data System (ADS)

    Asha, T.; Natarajan, S.; Murthy, K. N. B.

    2010-02-01

    Tuberculosis (TB) is a disease caused by bacteria called Mycobacterium tuberculosis. It usually spreads through the air and attacks low immune bodies such as patients with Human Immunodeficiency Virus (HIV). This work focuses on finding close association rules, a promising technique in Data Mining, within TB data. The proposed method first normalizes of raw data from medical records which includes categorical, nominal and continuous attributes and then determines Association Rules from the normalized data with different support and confidence. Association rules are applied on a real data set containing medical records of patients with TB obtained from a state hospital. The rules determined describes close association between one symptom to another; as an example, likelihood that an occurrence of sputum is closely associated with blood cough and HIV.

  15. Alzheimer’s Disease: Diagnosis and Treatment Across the Spectrum of Disease Severity

    PubMed Central

    Neugroschl, Judith; Wang, Sophia

    2012-01-01

    Alzheimer’s disease exists along a spectrum, from early memory changes to functional dependence and death. Using a case illustration, we review the evaluation and diagnosis of mild cognitive impairment and the diagnosis and management of Alzheimer’s disease at each stage, including the management of both cognitive and behavioral/psychiatric aspects of the disease and end-stage and end-of-life care. PMID:21748748

  16. Diagnosis of Whipple's disease using molecular biology techniques.

    PubMed

    Cosme, Ángel; Ojeda, Evelia; Muñagorri, Ana I; Gaminde, Eduardo; Bujanda, Luis; Larzabal, Mikel; Gil, Inés

    2011-04-01

    The diagnosis of Whipple's disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended.This study reports two cases: the first patient had diarrhea and the disease was suspected after an endoscopic examination of the ileum, while the second patient had multi-systemic manifestations,particularly abdominal, thoracic, and peripheral lymphadenopathies. In both cases, the diagnosis was confirmed using molecular biology techniques to samples from the small intestine or from a retroperineal lymph node, respectively. PMID:21526877

  17. Endoscopic Diagnosis and Differentiation of Inflammatory Bowel Disease

    PubMed Central

    Lee, Ji Min; Lee, Kang-Moon

    2016-01-01

    Patients with inflammatory bowel disease have significantly increased in recent decades in Korea. Intestinal tuberculosis (ITB) and intestinal Behcet’s disease (BD), which should be differentiated from Crohn’s disease (CD), are more frequent in Korea than in the West. Thus, the accurate diagnosis of these inflammatory diseases is problematic in Korea and clinicians should fully understand their clinical and endoscopic characteristics. Ulcerative colitis mostly presents with rectal inflammation and continuous lesions, while CD presents with discontinuous inflammatory lesions and frequently involves the ileocecal area. Involvement of fewer than four segments, a patulous ileocecal valve, transverse ulcers, and scars or pseudopolyps are more frequently seen in ITB than in CD. A few ulcers with discrete margins are a typical endoscopic finding of intestinal BD. However, the differential diagnosis is difficult in many clinical situations because typical endoscopic findings are not always observed. Therefore, clinicians should also consider symptoms and laboratory, pathological, and radiological findings, in addition to endoscopic findings. PMID:27484813

  18. Risk factors for renal scarring in children with primary vesicoureteral reflux disease.

    PubMed

    Mir, Sevgi; Ertan, Pelin; Ozkayin, Nese

    2013-01-01

    To determine the incidence of renal scarring among patients with primary vesicoureteral reflux (VUR) and the possible risk factor(s), we studied 90 children (60 girls and 30 boys) with VUR followed in the Pediatric Nephrology Unit at the Ege University Hospital from 1998 to 2003. All the patients were assessed for VUR grade by voiding cystoureterography and for presence of renal scarring by (99 m) technetium dimercapto-succinic acid scintigraphy. All infants with VUR were given low-dose prophylactic antibiotics and followed-up until resolution of the reflux. Grade of reflux and number of urinary tract infection (UTI) episodes (≥3) were found to be statistically significant risk factors for renal scarring (P <0.05). However, gender, familial history and laterality of the disease were not found to be statistically significant risk factors (P >0.05). Similarly, there was no statistically significant difference of frequency of renal scarring among the different age groups (P >0.05). We conclude that recurrences of UTI and VUR severity are significant risk factors for renal scarring in children with VUR. Therefore, identification of VUR at an early age may offer the opportunity to prevent episodes of UTI and possible formation of renal scars that may result in end-stage renal failure. PMID:23354192

  19. Cemento-Ossifying Fibroma in a Patient with End-Stage Renal Disease

    PubMed Central

    Gopinath, Divya; Beena, V. T.; Sugirtharaj, G.; Vidhyadharan, K.; Salmanul Faris, K.; Kumar, Sajai J.

    2013-01-01

    The presence of chronic renal disease (CRD) is a predisposing factor for the occurrence of soft and hard tissue lesions in the oral cavity. The cemento-ossifying fibroma (COF) is an uncommon benign fibroosseous lesion composed of fibrocellular component and calcified materials like cementum and woven bone. A 37-year-old female patient undergoing chronic haemodialysis reported to our institution with a complaint of slow growing, nontender swelling of mandible of 6-month duration. Computed tomography disclosed an ill-defined lesion showing thinning and expansion of buccal as well as lingual cortical plate with flecks of radiopacity in centre. Incision biopsy revealed histological characteristics consistent with cemento-ossifying fibroma. The lesion was excised under local anesthesia. The histopathological examination revealed irregularly shaped bone and cementum-like hard tissue calcifications contained within hypercellular fibrous tissue stroma, leading to a confirmation of the diagnosis of cemento-ossifying fibroma. This paper aims to provide light to the fact that the soft and hard tissues of the oral region may become susceptible to the development of pathological growths in case of some particular systemic conditions. PMID:23819070

  20. Molecular diagnosis of putative Stargardt disease probands by exome sequencing

    PubMed Central

    2012-01-01

    Background The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases. Methods We performed whole exome sequencing (WES) of nine putative Stargardt Disease probands and searched for potentially disease-causing genetic variants in previously identified retinal or macular dystrophy genes. Follow-up dideoxy sequencing was performed for confirmation and to screen for mutations in an additional set of affected individuals lacking a definitive molecular diagnosis. Results Whole exome sequencing revealed seven likely disease-causing variants across four genes, providing a confident genetic diagnosis in six previously uncharacterized participants. We identified four previously missed mutations in ABCA4 across three individuals. Likely disease-causing mutations in RDS/PRPH2, ELOVL, and CRB1 were also identified. Conclusions Our findings highlight the enormous potential of whole exome sequencing in Stargardt Disease molecular diagnosis and research. WES adequately assayed all coding sequences and canonical splice sites of ABCA4 in this study. Additionally, WES enables the identification of disease-related alleles in other genes. This work highlights the importance of collecting parental genetic material for WES testing as the current knowledge of human genome variation limits the determination of causality between identified variants and disease. While larger sample sizes are required to establish the precision and accuracy of this type of testing, this study supports WES for inherited early onset macular degeneration disorders as an alternative to standard mutation screening techniques. PMID:22863181

  1. The Diagnostic Value of Skin Disease Diagnosis Expert System

    PubMed Central

    Jeddi, Fatemeh Rangraz; Arabfard, Masoud; Arabkermany, Zahra; Gilasi, Hamidreza

    2016-01-01

    Background: Evaluation is a necessary measure to ensure the effectiveness and efficiency of all systems, including expert systems. The aim of this study was to determine the diagnostic value of expert system for diagnosis of complex skin diseases. Methods: A case-control study was conducted in 2015 to determine the diagnostic value of an expert system. The study population included patients who were referred to Razi Specialized Hospital, affiliated to Tehran University of Medical Sciences. The control group was selected from patients without the selected skin diseases. Data collection tool was a checklist of clinical signs of diseases including pemphigus vulgaris, lichen planus, basal cell carcinoma, melanoma, and scabies. The sample size formula estimated 400 patients with skin diseases selected by experts and 200 patients without the selected skin diseases. Patient selection was undertaken with randomized stratified sampling and their sign and symptoms were logged into the system. Physician’s diagnosis was determined as the gold standard and was compared with the diagnosis of expert system by SPSS software version 16 and STATA. Kappa statistics, indicators of sensitivity, specificity, accuracy and confidence intervals were calculated for each disease. An accuracy of 90% was considered appropriate. Results: Comparing the results of expert system and physician’s diagnosis at the evaluation stage showed an accuracy of 97.1%, sensitivity of 97.5% and specificity of 96.5% The Kappa test indicated a high agreement of 93.6%. Conclusion: The expert system can diagnose complex skin diseases. Development of such systems is recommended to identify all skin diseases. PMID:27046943

  2. Diagnosis of Parasitic Diseases: Old and New Approaches

    PubMed Central

    Ndao, Momar

    2009-01-01

    Methods for the diagnosis of infectious diseases have stagnated in the last 20–30 years. Few major advances in clinical diagnostic testing have been made since the introduction of PCR, although new technologies are being investigated. Many tests that form the backbone of the “modern” microbiology laboratory are based on very old and labour-intensive technologies such as microscopy for malaria. Pressing needs include more rapid tests without sacrificing sensitivity, value-added tests, and point-of-care tests for both high- and low-resource settings. In recent years, research has been focused on alternative methods to improve the diagnosis of parasitic diseases. These include immunoassays, molecular-based approaches, and proteomics using mass spectrometry platforms technology. This review summarizes the progress in new approaches in parasite diagnosis and discusses some of the merits and disadvantages of these tests. PMID:20069111

  3. Better survival of renal cell carcinoma in patients with inflammatory bowel disease

    PubMed Central

    Derikx, Lauranne A.A.P.; Nissen, Loes H.C.; Drenth, Joost P.H.; van Herpen, Carla M.; Kievit, Wietske; Verhoeven, Rob H.A.; Mulders, Peter F.A.; Hulsbergen-van de Kaa, Christina A.; Boers-Sonderen, Marye J.; van den Heuvel, Tim R.A.; Pierik, Marieke; Nagtegaal, Iris D.; Hoentjen, Frank

    2015-01-01

    Background Immunosuppressive therapy may impact cancer risk in inflammatory bowel disease (IBD). Cancer specific data regarding risk and outcome are scarce and data for renal cell carcinoma (RCC) are lacking. We aimed(1) to identify risk factors for RCC development in IBD patients (2) to compare RCC characteristics, outcome and survival between IBD patients and the general population. Methods A PALGA (Dutch Pathology Registry) search was performed to establish a case group consisting of all IBD patients with incident RCC in The Netherlands (1991–2013). Cases were compared with two separate control groups: (A) with a population-based IBD cohort for identification of risk factors (B) with a RCC cohort from the general population to compare RCC characteristics and outcomes. Results 180 IBD patients with RCC were identified. Pancolitis (OR 1.8–2.5), penetrating Crohn's disease (OR 2.8), IBD related surgery (OR 3.7–4.5), male gender (OR 3.2–5.0) and older age at IBD onset (OR 1.0–1.1) were identified as independent risk factors for RCC development. IBD patients had a significantly lower age at RCC diagnosis (p < 0.001), lower N-stage (p = 0.025), lower M-stage (p = 0.020) and underwent more frequently surgical treatment for RCC (p < 0.001) compared to the general population. This translated into a better survival (p = 0.026; HR 0.7) independent of immunosuppression. Conclusions IBD patients with a complex phenotype are at increased risk to develop RCC. They are diagnosed with RCC at a younger age and at an earlier disease stage compared to the general population. This translates into a better survival independent of immunosuppressive or anti-TNFα therapy. PMID:26447542

  4. Contribution of renal and non-renal clearance on increased total clearance of adalimumab in glomerular disease.

    PubMed

    Roberts, Brittney V; Susano, Isidro; Gipson, Debbie S; Trachtman, Howard; Joy, Melanie S

    2013-09-01

    The contribution of renal and non-renal clearance toward targeted concentrations and/or effects of therapeutic proteins in nephrotic patients are unknown. This study dissected the contribution of clearance pathways to adalimumab elimination in patients with focal segmental glomerulosclerosis (FSGS). Urine was collected from seven patients treated with adalimumab. Renal clearance (ClR ) was measured and non-renal clearance (ClNR ) was calculated as the difference between total clearance and ClR . Differences in cumulative amount in urine, ClR, and ClNR between study weeks 1 and 16 and relationships between proteinuria (protein:creatinine ratio (Up/c)), and ClR and ClNR were evaluated. Up to 13% of the adalimumab dose was lost in urine. ClNR contributed more than ClR to enhanced total clearance. There was a nonlinear relationship between Up/c and ClR (R(2) 0.7059); an increase in ClR beginning at Up/c of 12 mg/mg [slope 1.755, (C.I. -7.825 to 11.34)]. There was a linear relationship between Up/c and ClNR (R(2) 0.5039); for every one unit increase in Up/c, ClNR would increase by 3.5 mL/hr (P = 0.01). Both ClR and ClNR contribute to enhanced total clearance of adalimumab in glomerular disease secondary to FSGS. Additional research is needed to identify mechanisms for the increased ClNR pathways. PMID:23813330

  5. Parkinson's Disease: New Research Offers Hope for Better Diagnosis and Treatments

    MedlinePlus

    ... this page please turn JavaScript on. Feature: Parkinson's Disease New Research Offers Hope for Better Diagnosis and Treatments ... to rule out other diseases. Read More "Parkinson's Disease" Articles New Research Offers Hope for Better Diagnosis and Treatments / ...

  6. The use of neuroimaging in the diagnosis of mitochondrial disease.

    PubMed

    Friedman, Seth D; Shaw, Dennis W W; Ishak, Gisele; Gropman, Andrea L; Saneto, Russell P

    2010-01-01

    Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease manifestations ranging from early death to abnormalities in all major organ systems and to symptoms that can be largely confined to muscle fatigue. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. When the constellation of symptoms is suggestive of mitochondrial disease, neuroimaging features may be diagnostic and suggestive, can help direct further workup, and can help to further characterize the underlying brain abnormalities. Magnetic resonance imaging changes may be nonspecific, such as atrophy (both general and involving specific structures, such as cerebellum), more suggestive of particular disorders such as focal and often bilateral lesions confined to deep brain nuclei, or clearly characteristic of a given disorder such as stroke-like lesions that do not respect vascular boundaries in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS). White matter hyperintensities with or without associated gray matter involvement may also be observed. Across patients and discrete disease subtypes (e.g., MELAS, Leigh syndrome, etc.), patterns of these features are helpful for diagnosis. However, it is also true that marked variability in expression occurs in all mitochondrial disease subtypes, illustrative of the complexity of the disease process. The present review summarizes the role of neuroimaging in the diagnosis and characterization of patients with suspected mitochondrial disease. PMID:20818727

  7. Cell biomechanics and its applications in human disease diagnosis

    NASA Astrophysics Data System (ADS)

    Nematbakhsh, Yasaman; Lim, Chwee Teck

    2015-04-01

    Certain diseases are known to cause changes in the physical and biomechanical properties of cells. These include cancer, malaria, and sickle cell anemia among others. Typically, such physical property changes can result in several fold increases or decreases in cell stiffness, which are significant and can result in severe pathology and eventual catastrophic breakdown of the bodily functions. While there are developed biochemical and biological assays to detect the onset or presence of diseases, there is always a need to develop more rapid, precise, and sensitive methods to detect and diagnose diseases. Biomechanical property changes can play a significant role in this regard. As such, research into disease biomechanics can not only give us an in-depth knowledge of the mechanisms underlying disease progression, but can also serve as a powerful tool for detection and diagnosis. This article provides some insights into opportunities for how significant changes in cellular mechanical properties during onset or progression of a disease can be utilized as useful means for detection and diagnosis. We will also showcase several technologies that have already been developed to perform such detection and diagnosis.

  8. Diagnosis and Treatment of Nontuberculous Mycobacterial Lung Disease: Clinicians' Perspectives.

    PubMed

    Ryu, Yon Ju; Koh, Won-Jung; Daley, Charles L

    2016-04-01

    Nontuberculous mycobacteria (NTM) are emerging pathogens that affect both immunocompromised and immunocompetent patients. The incidence and prevalence of NTM lung disease are increasing worldwide and rapidly becoming a major public health problem. For the diagnosis of NTM lung disease, patients suspected to have NTM lung disease are required to meet all clinical and microbiologic criteria. The development of molecular methods allows the characterization of new species and NTM identification at a subspecies level. Even after the identification of NTM species from respiratory specimens, clinicians should consider the clinical significance of such findings. Besides the limited options, treatment is lengthy and varies by species, and therefore a challenge. Treatment may be complicated by potential toxicity with discouraging outcomes. The decision to start treatment for NTM lung disease is not easy and requires careful individualized analysis of risks and benefits. Clinicians should be alert to those unique aspects of NTM lung disease concerning diagnosis with advanced molecular methods and treatment with limited options. Current recommendations and recent advances for diagnosis and treatment of NTM lung disease are summarized in this article. PMID:27066084

  9. Diagnosis and Treatment of Nontuberculous Mycobacterial Lung Disease: Clinicians' Perspectives

    PubMed Central

    Ryu, Yon Ju; Koh, Won-Jung

    2016-01-01

    Nontuberculous mycobacteria (NTM) are emerging pathogens that affect both immunocompromised and immunocompetent patients. The incidence and prevalence of NTM lung disease are increasing worldwide and rapidly becoming a major public health problem. For the diagnosis of NTM lung disease, patients suspected to have NTM lung disease are required to meet all clinical and microbiologic criteria. The development of molecular methods allows the characterization of new species and NTM identification at a subspecies level. Even after the identification of NTM species from respiratory specimens, clinicians should consider the clinical significance of such findings. Besides the limited options, treatment is lengthy and varies by species, and therefore a challenge. Treatment may be complicated by potential toxicity with discouraging outcomes. The decision to start treatment for NTM lung disease is not easy and requires careful individualized analysis of risks and benefits. Clinicians should be alert to those unique aspects of NTM lung disease concerning diagnosis with advanced molecular methods and treatment with limited options. Current recommendations and recent advances for diagnosis and treatment of NTM lung disease are summarized in this article. PMID:27066084

  10. Biotechnology in the diagnosis of infectious diseases and vaccine development

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Molecular biological methods have become increasingly applicable to the diagnosis of infectious diseases and vaccine development. To become widely used the methods need to be easy, safe, sensitive, reproducible and eventually automated to facilitate the evaluation of large number of samples. The p...

  11. Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies.

    PubMed

    Perez-Atayde, Antonio R

    2013-07-01

    A 14-year-old boy with mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease had a lifelong history of failure to thrive and gastrointestinal symptoms including vomiting, pain, and diarrhea, leading to progressive cachexia. At the age of 9 years, after an extensive workup, the diagnosis of Crohn disease was strongly suspected, and he underwent colonoscopy with multiple biopsies. At 11 years of age, vision change and poor balance lead to a diagnosis of leukodystrophy by magnetic resonance imaging. Investigations for metachromatic leukodystrophy, adrenal leukodystrophy, and globoid cell leukodystrophy were all negative. A diagnosis of MNGIE disease was suspected when he continued deteriorating with gastrointestinal symptoms, multiple neurologic deficits, and encephalopathy. Markedly diminished thymidine phosphorylase activity and increased thymidine plasma levels confirmed the diagnosis of MNGIE. At autopsy, megamitochondria were observed by light microscopy in submucosal and myenteric ganglion cells and in smooth muscle cells of muscularis mucosae and muscularis propria, along the entire gastrointestinal tract from the esophagus to the rectum. Megamitochondria in ganglion cells were also observed in a retrospective review of the endoscopic intestinal biopsies taken at age 9 and 13 years and in the appendectomy specimen obtained 1 month before his demise. This study corroborates the presence of megamitochondria in gastrointestinal ganglion cells in MNGIE disease, better illustrates their detailed morphology, and describes for the first time similar structures in the cytoplasm of gastrointestinal smooth muscle cells. Pathologists should be able to recognize these structures by light microscopy and be aware of their association with primary mitochondriopathies. PMID:23453626

  12. The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease

    ERIC Educational Resources Information Center

    Friedman, Seth D.; Shaw, Dennis W. W.; Ishak, Gisele; Gropman, Andrea L.; Saneto, Russell P.

    2010-01-01

    Mutations in nuclear and mitochondrial DNA impacting mitochondrial function result in disease manifestations ranging from early death to abnormalities in all major organ systems and to symptoms that can be largely confined to muscle fatigue. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. When the constellation…

  13. Simulation of Skin Diseases for Teaching Dermatological Diagnosis.

    ERIC Educational Resources Information Center

    Short, John M.; Hess, Alan C.

    1980-01-01

    A technique for simulating the papulosquamous skin diseases, using a computer, has been developed and tested with medical students and dermatologists to determine whether this type of simulation is suitable for training students in dermatological diagnosis. The results indicate that it appears to be feasible for training students in differential…

  14. SORCS1 contributes to the development of renal disease in rats and humans

    PubMed Central

    Lazar, Jozef; O'Meara, Caitlin C.; Sarkis, Allison B.; Prisco, Sasha Z.; Xu, Haiyan; Fox, Caroline S.; Chen, Ming-Huei; Broeckel, Ulrich; Arnett, Donna K.; Moreno, Carol; Provoost, Abraham P.

    2013-01-01

    Many lines of evidence demonstrate that genetic variability contributes to chronic kidney disease susceptibility in humans as well as rodent models. Little progress has been made in discovering causal kidney disease genes in humans mainly due to genetic complexity. Here, we use a minimal congenic mapping strategy in the FHH (fawn hooded hypertensive) rat to identify Sorcs1 as a novel renal disease candidate gene. We investigated the hypothesis that genetic variation in Sorcs1 influences renal disease susceptibility in both rat and human. Sorcs1 is expressed in the kidney, and knocking out this gene in a rat strain with a sensitized genome background produced increased proteinuria. In vitro knockdown of Sorcs1 in proximal tubule cells impaired protein trafficking, suggesting a mechanism for the observed proteinuria in the FHH rat. Since Sorcs1 influences renal function in the rat, we went on to test this gene in humans. We identified associations between single nucleotide polymorphisms in SORCS1 and renal function in large cohorts of European and African ancestry. The experimental data from the rat combined with association results from different ethnic groups indicates a role for SORCS1 in maintaining proper renal function. PMID:23780848

  15. ACG clinical guidelines: diagnosis and management of celiac disease.

    PubMed

    Rubio-Tapia, Alberto; Hill, Ivor D; Kelly, Ciarán P; Calderwood, Audrey H; Murray, Joseph A

    2013-05-01

    This guideline presents recommendations for the diagnosis and management of patients with celiac disease. Celiac disease is an immune-based reaction to dietary gluten (storage protein for wheat, barley, and rye) that primarily affects the small intestine in those with a genetic predisposition and resolves with exclusion of gluten from the diet. There has been a substantial increase in the prevalence of celiac disease over the last 50 years and an increase in the rate of diagnosis in the last 10 years. Celiac disease can present with many symptoms, including typical gastrointestinal symptoms (e.g., diarrhea, steatorrhea, weight loss, bloating, flatulence, abdominal pain) and also non-gastrointestinal abnormalities (e.g., abnormal liver function tests, iron deficiency anemia, bone disease, skin disorders, and many other protean manifestations). Indeed, many individuals with celiac disease may have no symptoms at all. Celiac disease is usually detected by serologic testing of celiac-specific antibodies. The diagnosis is confirmed by duodenal mucosal biopsies. Both serology and biopsy should be performed on a gluten-containing diet. The treatment for celiac disease is primarily a gluten-free diet (GFD), which requires significant patient education, motivation, and follow-up. Non-responsive celiac disease occurs frequently, particularly in those diagnosed in adulthood. Persistent or recurring symptoms should lead to a review of the patient's original diagnosis to exclude alternative diagnoses, a review of the GFD to ensure there is no obvious gluten contamination, and serologic testing to confirm adherence with the GFD. In addition, evaluation for disorders associated with celiac disease that could cause persistent symptoms, such as microscopic colitis, pancreatic exocrine dysfunction, and complications of celiac disease, such as enteropathy-associated lymphoma or refractory celiac disease, should be entertained. Newer therapeutic modalities are being studied in

  16. Advances in Raman spectroscopy for the diagnosis of Alzheimer's disease

    NASA Astrophysics Data System (ADS)

    Sudworth, Caroline D.; Archer, John K. J.; Black, Richard A.; Mann, David

    2006-02-01

    Within the next 50 years Alzheimer's disease is expected to affect 100 million people worldwide. The progressive decline in the mental health of the patient is caused by severe brain atrophy generated by the breakdown and aggregation of proteins, resulting in β-amyloid plaques and neurofibrillary tangles. The greatest challenge to Alzheimer's disease lies in the pursuit of an early and definitive diagnosis, in order that suitable treatment can be administered. At the present time, definitive diagnosis is restricted to post-mortem examination. Alzheimer's disease also remains without a long-term cure. This research demonstrates the potential role of Raman spectroscopy, combined with principle components analysis (PCA), as a diagnostic method. Analyses of ethically approved ex vivo post-mortem brain tissues (originating from frontal and occipital lobes) from control (3 normal elderly subjects and 3 Huntingdon's disease subjects) and Alzheimer's disease (12 subjects) brain sections, and a further set of 12 blinded samples are presented. Spectra originating from these tissues are highly reproducible, and initial results indicate a vital difference in protein content and conformation, relating to the abnormally high levels of aggregated proteins in the diseased tissues. Further examination of these spectra using PCA allows for the separation of control from diseased tissues. The validation of the PCA models using blinded samples also displays promise for the identification of Alzheimer's disease, in conjunction with secondary information regarding other brain diseases and dementias. These results provide a route for Raman spectroscopy as a possible non-invasive, non-destructive tool for the early diagnosis of Alzheimer's disease.

  17. Impaired renal function impacts negatively on vascular stiffness in patients with coronary artery disease

    PubMed Central

    2013-01-01

    Background Chronic kidney disease (CKD) and coronary artery disease (CAD) are independently associated with increased vascular stiffness. We examined whether renal function contributes to vascular stiffness independently of CAD status. Methods We studied 160 patients with CAD and 169 subjects without CAD. The 4-variable MDRD formula was used to estimate glomerular filtration rate (eGFR); impaired renal function was defined as eGFR <60 mL/min. Carotid-femoral pulse wave velocity (PWV) was measured with the SphygmoCor® device. Circulating biomarkers were assessed in plasma using xMAP® multiplexing technology. Results Patients with CAD and impaired renal function had greater PWV compared to those with CAD and normal renal function (10.2 [9.1;11.2] vs 7.3 [6.9;7.7] m/s; P < 0.001). In all patients, PWV was a function of eGFR (β = −0.293; P < 0.001) even after adjustment for age, sex, systolic blood pressure, body mass index and presence or absence of CAD. Patients with CAD and impaired renal function had higher levels of adhesion and inflammatory molecules including E-selectin and osteopontin (all P < 0.05) compared to those with CAD alone, but had similar levels of markers of oxidative stress. Conclusions Renal function is a determinant of vascular stiffness even in patients with severe atherosclerotic disease. This was paralleled by differences in markers of cell adhesion and inflammation. Increased vascular stiffness may therefore be linked to inflammatory remodeling of the vasculature in people with impaired renal function, irrespective of concomitant atherosclerotic disease. PMID:23937620

  18. Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease.

    PubMed

    Cefle, K; Yildiz, A; Palanduz, S; Ozturk, S; Ozbey, N; Kylyçaslan, I; Colakoglu, S; Balci, C

    2002-05-01

    Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, his father and other family members revealed polycystic kidneys. Renal failure was present only in the Sotos case, who also had considerably larger cysts than other family members. We suggest that the underlying mechanism responsible from the somatic overgrowth in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD. Although Sotos syndrome has been associated with urological abnormalities, chronic renal failure is very rare. To our knowledge, Sotos syndrome associated with ADPKD has not been reported before. PMID:12074220

  19. The role of the Janus kinase family/signal transducer and activator of transcription signaling pathway in fibrotic renal disease

    PubMed Central

    Matsui, Futoshi; Meldrum, Kirstan K.

    2012-01-01

    Over the past several years, a number of cytokines and growth factors including transforming growth factor β1, tumor necrosis factor α, and angiotensin II have been shown to play a crucial role in renal fibrosis. The Janus kinase family (JAK) and signal transducers and activators of transcription (STATs) constitute one of the primary signaling pathways that regulate cytokine expression, and the JAK/STAT signaling pathway has increasingly been implicated in the pathophysiology of renal disease. This review examines the role of the JAK/STAT signaling pathway in fibrotic renal disease. The JAK/STAT signaling pathway is activated in a variety of renal diseases and has been implicated in the pathophysiology of renal fibrosis. Experimental evidence suggests that inhibition of the JAK/STAT signaling pathway, in particular JAK2 and STAT3, may suppress renal fibrosis and protect renal function. However, it is incompletely understood which cells activate the JAK/STAT signaling pathway and which JAK/STAT signaling pathway is activated in each renal disease. Research regarding JAK/STAT signaling and its contribution to renal disease is still ongoing in humans. Future studies are required to elucidate the potential role of JAK/STAT signaling inhibition as a therapeutic strategy in the attenuation of renal fibrosis. PMID:22883438

  20. Renal venogram

    MedlinePlus

    ... 2008:chap 6. Rankin S. Renal parenchymal disease, including renal failure, renovascular disease and transportation. In: Grainger RC, Allison D, Adam, Dixon AK, eds. Diagnostic Radiology: A Textbook of Medical Imaging . 5th ed. New York, NY: Churchill Livingstone; 2008:chap 39. Read ... arteriography Renal vein thrombosis Tumor Venogram Wilms ...

  1. Imaging Findings of Common Benign Renal Tumors in the Era of Small Renal Masses: Differential Diagnosis from Small Renal Cell Carcinoma: Current Status and Future Perspectives

    PubMed Central

    Woo, Sungmin

    2015-01-01

    The prevalence of small renal masses (SRM) has risen, paralleling the increased usage of cross-sectional imaging. A large proportion of these SRMs are not malignant, and do not require invasive treatment such as nephrectomy. Therefore, differentation between early renal cell carcinoma (RCC) and benign SRM is critical to achieve proper management. This article reviews the radiological features of benign SRMs, with focus on two of the most common benign entities, angiomyolipoma and oncocytoma, in terms of their common imaging findings and differential features from RCC. Furthermore, the role of percutaneous biopsy is discussed as imaging is yet imperfect, therefore necessitating biopsy in certain circumstances to confirm the benignity of SRMs. PMID:25598678

  2. Case report: laparoscopic partial nephrectomy for isolated renal hydatid disease.

    PubMed

    Basiri, A; Nadjafi-Semnani, M; Nooralizadeh, A

    2006-01-01

    A 73-year-old male patient with an isolated calcified hydatid cyst in the lower pole of the right kidney presented with a history of weight loss and cloudy, foul-smelling urine. Laparoscopic partial nephrectomy was performed, at which the cyst was removed en bloc. Six months postoperatively, a CT scan revealed no recurrence of hydatidosis. To our knowledge, this is the first report of laparoscopic partial nephrectomy for the treatment of isolated renal echinococcosis. PMID:16426127

  3. Determinants of renal tissue hypoxia in a rat model of polycystic kidney disease.

    PubMed

    Ow, Connie P C; Abdelkader, Amany; Hilliard, Lucinda M; Phillips, Jacqueline K; Evans, Roger G

    2014-11-15

    Renal tissue oxygen tension (PO2) and its determinants have not been quantified in polycystic kidney disease (PKD). Therefore, we measured kidney tissue PO2 in the Lewis rat model of PKD (LPK) and in Lewis control rats. We also determined the relative contributions of altered renal oxygen delivery and consumption to renal tissue hypoxia in LPK rats. PO2 of the superficial cortex of 11- to 13-wk-old LPK rats, measured by Clark electrode with the rat under anesthesia, was higher within the cysts (32.8 ± 4.0 mmHg) than the superficial cortical parenchyma (18.3 ± 3.5 mmHg). PO2 in the superficial cortical parenchyma of Lewis rats was 2.5-fold greater (46.0 ± 3.1 mmHg) than in LPK rats. At each depth below the cortical surface, tissue PO2 in LPK rats was approximately half that in Lewis rats. Renal blood flow was 60% less in LPK than in Lewis rats, and arterial hemoglobin concentration was 57% less, so renal oxygen delivery was 78% less. Renal venous PO2 was 38% less in LPK than Lewis rats. Sodium reabsorption was 98% less in LPK than Lewis rats, but renal oxygen consumption did not significantly differ between the two groups. Thus, in this model of PKD, kidney tissue is severely hypoxic, at least partly because of deficient renal oxygen delivery. Nevertheless, the observation of similar renal oxygen consumption, despite markedly less sodium reabsorption, in the kidneys of LPK compared with Lewis rats, indicates the presence of inappropriately high oxygen consumption in the polycystic kidney. PMID:25209412

  4. Stem cells and progenitor cells in renal disease.

    PubMed

    Haller, Hermann; de Groot, Kirsten; Bahlmann, Ferdinand; Elger, Marlies; Fliser, Danilo

    2005-11-01

    Stem cells and progenitor cells are necessary for repair and regeneration of injured renal tissue. Infiltrating or resident stem cells can contribute to the replacement of lost or damaged tissue. However, the regulation of circulating progenitor cells is not well understood. We have analyzed the effects of erythropoietin on circulating progenitor cells and found that low levels of erythropoietin induce mobilization and differentiation of endothelial progenitor cells. In an animal model of 5/6 nephrectomy we could demonstrate that erythropoietin ameliorates tissue injury. Full regeneration of renal tissue demands the existence of stem cells and an adequate local "milieu," a so-called stem cell niche. We have previously described a stem cell niche in the kidneys of the dogfish, Squalus acanthus. Further analysis revealed that in the regenerating zone of the shark kidney, stem cells exist that can be induced by loss of renal tissue to form new glomeruli. Such animal models improve our understanding of stem cell behavior in the kidney and may eventually contribute to novel therapies. PMID:16221168

  5. SDF-1/CXCR4 signaling preserves microvascular integrity and renal function in chronic kidney disease.

    PubMed

    Chen, Li-Hao; Advani, Suzanne L; Thai, Kerri; Kabir, M Golam; Sood, Manish M; Gibson, Ian W; Yuen, Darren A; Connelly, Kim A; Marsden, Philip A; Kelly, Darren J; Gilbert, Richard E; Advani, Andrew

    2014-01-01

    The progressive decline of renal function in chronic kidney disease (CKD) is characterized by both disruption of the microvascular architecture and the accumulation of fibrotic matrix. One angiogenic pathway recently identified as playing an essential role in renal vascular development is the stromal cell-derived factor-1α (SDF-1)/CXCR4 pathway. Because similar developmental processes may be recapitulated in the disease setting, we hypothesized that the SDF-1/CXCR4 system would regulate microvascular health in CKD. Expression of CXCR4 was observed to be increased in the kidneys of subtotally nephrectomized (SNx) rats and in biopsies from patients with secondary focal segmental glomerulosclerosis (FSGS), a rodent model and human correlate both characterized by aberration of the renal microvessels. A reno-protective role for local SDF-1/CXCR4 signaling was indicated by i) CXCR4-dependent glomerular eNOS activation following acute SDF-1 administration; and ii) acceleration of renal function decline, capillary loss and fibrosis in SNx rats treated with chronic CXCR4 blockade. In contrast to the upregulation of CXCR4, SDF-1 transcript levels were decreased in SNx rat kidneys as well as in renal fibroblasts exposed to the pro-fibrotic cytokine transforming growth factor β (TGF-β), the latter effect being attenuated by histone deacetylase inhibition. Increased renal SDF-1 expression was, however, observed following the treatment of SNx rats with the ACE inhibitor, perindopril. Collectively, these observations indicate that local SDF-1/CXCR4 signaling functions to preserve microvascular integrity and prevent renal fibrosis. Augmentation of this pathway, either purposefully or serendipitously with either novel or existing therapies, may attenuate renal decline in CKD. PMID:24637920

  6. Value of Gluten Patch Test in Diagnosis of Celiac Disease

    PubMed Central

    Saneian, Hosein; Zandieh, Fariborz; Akhavan, Paria; Taherian, Rouzbeh

    2011-01-01

    Objective Celiac disease is an intestinal disorder identified by mucus inflammation, villous atrophy and crypt hyperplasia. This disorder can be controlled by elimination of gluten from daily diet. Patients with celiac disease are at greater risk of gastrointestinal malignancy and non-Hodgkin lymphoma than are the general population. This study tries to present the value of gluten patch test for diagnosis of celiac disease. Methods In this investigation, the study population was divided into case and control groups. The case group consisted of patients with celiac disease. The control group were patients involved in celiac disease but suffering from other gastrointestinal disorders. Both gluten patch and placebo patch were attached to the skin between the scapulas. The results were read twice: 48 hours and 96 hours after the patch was applied. Patients who showed irritation reactions were withdrawn from this study. The results were analysed by SPSS software, Spearman's test, chi square, and Mann–Whitney tests. Findings The value obtained from the gluten patch test after 96 hours are as follows: specification at 95%, sensitivity at 8%, positive prediction value at 67%, and negative prediction value at 43%. Conclusion It can be concluded that the gluten patch test is not an efficient test for screening of celiac disease, however, it can be useful for diagnosis of celiac disease if employed and studied with clinical symptoms and serologic and biopsy tests. Furthermore, we should doubt our judgment if the result of gluten patch test for the patient with celiac disease is positive. PMID:23056837

  7. Issues in the diagnosis and treatment of lyme disease.

    PubMed

    Donta, Sam T

    2012-01-01

    Since the identification of the causative organism more than 30 years ago, there remain questions about the di-agnosis and treatment of Lyme Disease. In this article, what is known about the disease will be reviewed, and approaches to the successful diagnosis and treatment of Lyme disease described. In considering the diagnosis of Lyme disease, a major problem is the inability of documenting the existence and location of the bacteria. After the initial transfer of the bacteria from the Ixodes tick into the person, the spirochetes spread locally, but after an initial bacteremic phase, the organisms can no longer be reliably found in body fluids. The bacteria are proba-bly present in subcutaneous sites and intracellular loci. Currently, the use of circulating antibodies directed against spe-cific antigens of the Lyme borrelia are the standard means to diagnose the disease, but specific antibodies are not an ade-quate means to assess the presence or absence of the organism. What is needed is a more Lyme-specific antigen as a more definitive adjunct to the clinical diagnosis. As for the treatment of Lyme disease, the earliest phase is generally easily treated. But it is the more chronic form of the disease that is plagued with lack of information, frequently leading to erroneous recommendations about the type and du-ration of treatments. Hence, often cited recommendations about the duration of treatment, eg four weeks is adequate treatment, have no factual basis to support that recommendation, often leading to the conclusion that there is another, per-haps psychosomatic reason, for the continuing symptoms. B. burgdorferi is sensitive to various antibiotics, including pe-nicillins, tetracyclines, and macrolides, but there are a number of mitigating factors that affect the clinical efficacy of these antibiotics, and these factors are addressed. The successful treatment of Lyme disease appears to be dependent on the use of specific antibiotics over a sufficient period of

  8. Issues in the Diagnosis and Treatment of Lyme Disease

    PubMed Central

    Donta, Sam T

    2012-01-01

    Since the identification of the causative organism more than 30 years ago, there remain questions about the di-agnosis and treatment of Lyme Disease. In this article, what is known about the disease will be reviewed, and approaches to the successful diagnosis and treatment of Lyme disease described. In considering the diagnosis of Lyme disease, a major problem is the inability of documenting the existence and location of the bacteria. After the initial transfer of the bacteria from the Ixodes tick into the person, the spirochetes spread locally, but after an initial bacteremic phase, the organisms can no longer be reliably found in body fluids. The bacteria are proba-bly present in subcutaneous sites and intracellular loci. Currently, the use of circulating antibodies directed against spe-cific antigens of the Lyme borrelia are the standard means to diagnose the disease, but specific antibodies are not an ade-quate means to assess the presence or absence of the organism. What is needed is a more Lyme-specific antigen as a more definitive adjunct to the clinical diagnosis. As for the treatment of Lyme disease, the earliest phase is generally easily treated. But it is the more chronic form of the disease that is plagued with lack of information, frequently leading to erroneous recommendations about the type and du-ration of treatments. Hence, often cited recommendations about the duration of treatment, eg four weeks is adequate treatment, have no factual basis to support that recommendation, often leading to the conclusion that there is another, per-haps psychosomatic reason, for the continuing symptoms. B. burgdorferi is sensitive to various antibiotics, including pe-nicillins, tetracyclines, and macrolides, but there are a number of mitigating factors that affect the clinical efficacy of these antibiotics, and these factors are addressed. The successful treatment of Lyme disease appears to be dependent on the use of specific antibiotics over a sufficient period of

  9. Chronic renal disease in a captive two-toed sloth (Choloepus didactylus) with concurrent hepatocellular carcinoma.

    PubMed

    Salas, Elisa; Wolf, Tiffany; Harris, Seth

    2014-06-01

    A 13-yr-old female two-toed sloth (Choloepus didactylus) with a prolonged history of worsening azotemia was necropsied shortly after euthanasia. On necropsy, the sloth had poor body condition, bilaterally shrunken kidneys, and a large neoplastic mass replacing the right liver lobe. Histologic examination demonstrated chronic renal disease with metastatic mineralization as the cause of morbidity. The liver mass was not associated with any known clinical signs and was diagnosed as a solitary and well-differentiated hepatocellular carcinoma. To the authors' knowledge, this is the first report of hepatocellular carcinoma diagnosed in a sloth and the first detailed description of chronic renal disease in this species. PMID:25000707

  10. Intimate partner violence after the diagnosis of sexually transmitted diseases

    PubMed Central

    Andrade, Roumayne Fernandes Vieira; Araújo, Maria Alix Leite; Vieira, Luiza Jane Eyre de Souza; Reis, Cláudia Bastos Silveira; Miranda, Angélica Espinosa

    2015-01-01

    OBJECTIVE To assess the prevalence and factors associated with intimate partner violence after the diagnosis of sexually transmitted diseases. METHODS This cross-sectional study was conducted in Fortaleza, CE, Northeastern Brazil, in 2012 and involved 221 individuals (40.3% male and 59.7% female) attended to at reference health care units for the treatment of sexually transmitted diseases. Data were collected using a questionnaire applied during interviews with each participant. A multivariate analysis with a logistic regression model was conducted using the stepwise technique. Only the variables with a p value < 0.05 were included in the adjusted analysis. The odds ratio (OR) with 95% confidence interval (CI) was used as the measure of effect. RESULTS A total of 30.3% of the participants reported experiencing some type of violence (27.6%, psychological; 5.9%, physical; and 7.2%, sexual) after the diagnosis of sexually transmitted disease. In the multivariate analysis adjusted to assess intimate partner violence after the revelation of the diagnosis of sexually transmitted diseases, the following variables remained statistically significant: extramarital relations (OR = 3.72; 95%CI 1.91;7.26; p = 0.000), alcohol consumption by the partner (OR = 2.16; 95%CI 1.08;4.33; p = 0.026), history of violence prior to diagnosis (OR = 2.87; 95%CI 1.44;5.69; p = 0.003), and fear of disclosing the diagnosis to the partner (OR = 2.66; 95%CI 1.32;5.32; p = 0.006). CONCLUSIONS Individuals who had extramarital relations, experienced violence prior to the diagnosis of sexually transmitted disease, feared disclosing the diagnosis to the partner, and those whose partner consumed alcohol had an increased likelihood of suffering violence. The high prevalence of intimate partner violence suggests that this population is vulnerable and therefore intervention efforts should be directed to them. Referral health care services for the treatment of sexually transmitted diseases can be strategic

  11. Renal function assessment in atrial fibrillation: Usefulness of chronic kidney disease epidemiology collaboration vs re-expressed 4 variable modification of diet in renal disease

    PubMed Central

    Abumuaileq, Rami Riziq-Yousef; Abu-Assi, Emad; López-López, Andrea; Raposeiras-Roubin, Sergio; Rodríguez-Mañero, Moisés; Martínez-Sande, Luis; García-Seara, Francisco Javier; Fernandez-López, Xesus Alberte; González-Juanatey, Jose Ramón

    2015-01-01

    AIM: To compare the performance of the re-expressed Modification of Diet in Renal Disease equation vs the new Chronic Kidney Disease Epidemiology Collaboration equation in patients with non-valvular atrial fibrillation. METHODS: We studied 911 consecutive patients with non-valvular atrial fibrillation on vitamin-K antagonist. The performance of the re-expressed Modification of Diet in Renal Disease equation vs the new Chronic Kidney Disease Epidemiology Collaboration equation in patients with non-valvular atrial fibrillation with respect to either a composite endpoint of major bleeding, thromboembolic events and all-cause mortality or each individual component of the composite endpoint was assessed using continuous and categorical ≥ 60, 59-30, and < 30 mL/min per 1.73 m2 estimated glomerular filtration rate. RESULTS: During 10 ± 3 mo, the composite endpoint occurred in 98 (10.8%) patients: 30 patients developed major bleeding, 18 had thromboembolic events, and 60 died. The new equation provided lower prevalence of renal dysfunction < 60 mL/min per 1.73 m2 (32.9%), compared with the re-expressed equation (34.1%). Estimated glomerular filtration rate from both equations was independent predictor of composite endpoint (HR = 0.98 and 0.97 for the re-expressed and the new equation, respectively; P < 0.0001) and all-cause mortality (HR = 0.98 for both equations, P < 0.01). Strong association with thromboembolic events was observed only when estimated glomerular filtration rate was < 30 mL/min per 1.73 m2: HR is 5.1 for the re-expressed equation, and HR = 5.0 for the new equation. No significant association with major bleeding was observed for both equations. CONCLUSION: The new equation reduced the prevalence of renal dysfunction. Both equations performed similarly in predicting major adverse outcomes. PMID:26516423

  12. Early chronic kidney disease: diagnosis, management and models of care.

    PubMed

    Wouters, Olivier J; O'Donoghue, Donal J; Ritchie, James; Kanavos, Panos G; Narva, Andrew S

    2015-08-01

    Chronic kidney disease (CKD) is prevalent in many countries, and the costs associated with the care of patients with end-stage renal disease (ESRD) are estimated to exceed US$1 trillion globally. The clinical and economic rationale for the design of timely and appropriate health system responses to limit the progression of CKD to ESRD is clear. Clinical care might improve if early-stage CKD with risk of progression to ESRD is differentiated from early-stage CKD that is unlikely to advance. The diagnostic tests that are currently used for CKD exhibit key limitations; therefore, additional research is required to increase awareness of the risk factors for CKD progression. Systems modelling can be used to evaluate the impact of different care models on CKD outcomes and costs. The US Indian Health Service has demonstrated that an integrated, system-wide approach can produce notable benefits on cardiovascular and renal health outcomes. Economic and clinical improvements might, therefore, be possible if CKD is reconceptualized as a part of primary care. This Review discusses which early CKD interventions are appropriate, the optimum time to provide clinical care, and the most suitable model of care to adopt. PMID:26055354

  13. Diagnosis and nursing management of coeliac disease in children.

    PubMed

    Paul, Siba Prosad; McVeigh, Lauren; Gil-Zaragozano, Elena; Basude, Dharamveer

    2016-02-01

    Coeliac disease is an autoimmune condition caused by the ingestion of gluten-containing foods and affects about 1% of children and young people in the UK. Classic symptoms include diarrhoea, bloating, weight loss and abdominal pain. However, extra-intestinal manifestations, such as iron deficiency anaemia, faltering growth, delayed puberty and mouth ulcers, are increasingly being recognised. Some children have an increased risk of developing coeliac disease, such as a strong family history, certain genetic conditions and type 1 diabetes, therefore there is a need for increased awareness and early diagnosis before symptoms occur. If coeliac disease is suspected, a child should have serological screening with anti-tissue transglutaminase titres. Diagnosis is traditionally confirmed by a small bowel biopsy while the child remains on a 'normal' diet that does not exclude gluten. More recently, for a selective group of children, modification of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines has enabled non-biopsy (serological) diagnosis of coeliac disease. Children's nurses have an important role in recognising and diagnosing coeliac disease earlier as well as offering ongoing dietary support. Enabling children to maintain a gluten-free diet is essential for general wellbeing and preventing long-term complications. PMID:26856574

  14. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.

    PubMed

    Rosencrantz, Richard; Schilsky, Michael

    2011-08-01

    Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. Loss of ATP7B function is the basis for reduced hepatic biliary copper excretion and reduced incorporation of copper into ceruloplasmin. During the intervening years, there was recognition of the clinical signs, histologic, biochemical features, and mutation analysis of ATP7B that characterize and enable diagnosis of this disorder. These include the presence of signs of liver or neurologic disease and detection of Kayser-Fleischer rings, low ceruloplasmin, elevated urine and hepatic copper, and associated histologic changes in the liver. Medical therapies and liver transplantation can effectively treat patients with this once uniformly fatal disorder. The earlier detection of the disease led to the initiation of treatment to prevent disease progression and reverse pathologic findings if present, and family screening to detect the disorder in first-degree relatives is warranted. Gene therapy and hepatocyte cell transplantation for Wilson disease has only been tested in animal models but represent future areas for study. Despite all the advances we still have to consider the diagnosis of Wilson disease to test patients for this disorder and properly establish the diagnosis before committing to life-long treatment. PMID:21901655

  15. Natural History of Malignant Bone Disease in Renal Cancer: Final Results of an Italian Bone Metastasis Survey

    PubMed Central

    Santini, Daniele; Procopio, Giuseppe; Porta, Camillo; Ibrahim, Toni; Barni, Sandro; Mazzara, Calogero; Fontana, Andrea; Berruti, Alfredo; Berardi, Rossana; Vincenzi, Bruno; Ortega, Cinzia; Ottaviani, Davide; Carteni, Giacomo; Lanzetta, Gaetano; Virzì, Vladimir; Santoni, Matteo; Silvestris, Nicola; Satolli, Maria Antonietta; Collovà, Elena; Russo, Antonio; Badalamenti, Giuseppe; Fedeli, Stefano Luzi; Tanca, Francesca Maria; Adamo, Vincenzo; Maiello, Evaristo; Sabbatini, Roberto; Felici, Alessandra; Cinieri, Saverio; Tonini, Giuseppe; Bracarda, Sergio

    2013-01-01

    Background Bone metastasis represents an increasing clinical problem in advanced renal cell carcinoma (RCC) as disease-related survival improves. There are few data on the natural history of bone disease in RCC. Patients and methods Data on clinicopathology, survival, skeletal-related events (SREs), and bone-directed therapies for 398 deceased RCC patients (286 male, 112 female) with evidence of bone metastasis were statistically analyzed. Results Median time to bone metastasis was 25 months for patients without bone metastasis at diagnosis. Median time to diagnosis of bone metastasis by MSKCC risk was 24 months for good, 5 months for intermediate, and 0 months for poor risk. Median number of SREs/patient was one, and 71% of patients experienced at least one SRE. Median times to first, second, and third SRE were 2, 5, and 12 months, respectively. Median survival was 12 months after bone metastasis diagnosis and 10 months after first SRE. Among 181 patients who received zoledronic acid (ZOL), median time to first SRE was significantly prolonged versus control (n = 186) (3 months vs 1 month for control; P<0.05). Conclusions RCC patients with bone metastasis are at continuous risk of SREs, and in this survey ZOL effectively reduced this risk. PMID:24386138

  16. Laser mass spectrometry for DNA sequencing, disease diagnosis, and fingerprinting

    NASA Astrophysics Data System (ADS)

    Chen, C. H. Winston; Taranenko, N. I.; Zhu, Y. F.; Chung, C. N.; Allman, S. L.

    1997-05-01

    Since laser mass spectrometry has the potential for achieving very fast DNA analysis, we recently applied it to DNA sequencing, DNA typing for fingerprinting, and DNA screening for disease diagnosis. Two different approaches for sequencing DNA have been successfully demonstrated. One is to sequence DNA with DNA ladders produced from Sanger's enzymatic method. The other is to do direct sequencing without DNA ladders. The need for quick DNA typing for identification purposes is critical for forensic application. Our preliminary results indicate laser mass spectrometry can possible be used for rapid DNA fingerprinting applications at a much lower cost than gel electrophoresis. Population screening for certain genetic disease can be a very efficient step to reducing medical costs through prevention. Since laser mass spectrometry can provide very fast DNA analysis, we applied laser mass spectrometry to disease diagnosis. Clinical samples with both base deletion and point mutation have been tested with complete success.

  17. Laser mass spectrometry for DNA sequencing, disease diagnosis, and fingerprinting

    SciTech Connect

    Winston Chen, C.H.; Taranenko, N.I.; Zhu, Y.F.; Chung, C.N.; Allman, S.L.

    1997-03-01

    Since laser mass spectrometry has the potential for achieving very fast DNA analysis, the authors recently applied it to DNA sequencing, DNA typing for fingerprinting, and DNA screening for disease diagnosis. Two different approaches for sequencing DNA have been successfully demonstrated. One is to sequence DNA with DNA ladders produced from Snager`s enzymatic method. The other is to do direct sequencing without DNA ladders. The need for quick DNA typing for identification purposes is critical for forensic application. The preliminary results indicate laser mass spectrometry can possibly be used for rapid DNA fingerprinting applications at a much lower cost than gel electrophoresis. Population screening for certain genetic disease can be a very efficient step to reducing medical costs through prevention. Since laser mass spectrometry can provide very fast DNA analysis, the authors applied laser mass spectrometry to disease diagnosis. Clinical samples with both base deletion and point mutation have been tested with complete success.

  18. Brain PET in the Diagnosis of Alzheimer’s Disease

    PubMed Central

    Marcus, Charles; Mena, Esther; Subramaniam, Rathan M.

    2015-01-01

    Objectives The aim of this article was to review the current role of brain PET in the diagnosis of Alzheimer dementia. The characteristic patterns of glucose metabolism on brain FDG-PET can help in differentiating Alzheimer’s disease from other causes of dementia such as frontotemporal dementia and dementia of Lewy body. Amyloid brain PET may exclude significant amyloid deposition and thus Alzheimer’s disease in appropriate clinical setting. Conclusions FDG-PET and amyloid PET imaging are valuable in the assessment of patients with Alzheimer’s disease. PMID:25199063

  19. [Ultrasonographic study on kidneys in patients with chronic renal failure. Part II. Acquired cystic disease of the kidneys].

    PubMed

    Yamaguchi, S; Fujii, H; Kaneko, S; Yachiku, S; Anzai, T; Inada, F; Kobayashi, T; Furuta, K; Ishida, H

    1990-08-01

    Ultrasonic examination of the kidney was performed on 280 patients undergoing chronic dialysis. Acquired cystic disease of the kidney (ACDK) was detected in 107 of 529 kidneys (20.2%). This paper presents an analysis of ultrasonotomograms of ACDK. Ultrasonic measurement of the size of ACDK was 72.5 +/- 15.2 mm in length and 41.7 +/- 9.8 mm in thickness. The size of ACDK was significantly greater than that of contracted kidneys by ultrasonographic diagnosis. With regard to sex distinction the length and thickness of ACDK were significantly greater in males than in females. As for laboratory data, patients with ACDK showed significantly higher values of red blood cell count, hematocrit and serum creatinine concentration compared with contracted kidneys. Prolongation of the dialysis peirod increased the incidence of ACDK. The size of ACDK showed a tendency to increase with duration of dialysis. However, no correlation was noted statistically between the incidence of ACDK and duration of dialysis and between the size of ACDK and duration of dialysis. There was a significantly lower incidence of ACDK in patients with diabetic nephropathy than those with chronic glomerulonephritis. A sonographic feature of ACDK is irregularity of the renal contour because of cystic transformation. Renal imaging, identification of the corticomedullary border, identification of the central echoes and increased parenchymal echogenicity were similar to other dialyzed kidneys. The main complications of ACDK are hemorrhage and tumor formation. We observed two retroperitoneal hematomas and one renal cell carcinoma developed within two years after this examination. The incidence of complications of ACDK was 5.1 per cent. We believe that patients with ACDK should be watched carefully by regular ultrasonic examination for early diagnosis and treatment of these complications. PMID:2232409

  20. Hyper-connectivity of functional networks for brain disease diagnosis.

    PubMed

    Jie, Biao; Wee, Chong-Yaw; Shen, Dinggang; Zhang, Daoqiang

    2016-08-01

    Exploring structural and functional interactions among various brain regions enables better understanding of pathological underpinnings of neurological disorders. Brain connectivity network, as a simplified representation of those structural and functional interactions, has been widely used for diagnosis and classification of neurodegenerative diseases, especially for Alzheimer's disease (AD) and its early stage - mild cognitive impairment (MCI). However, the conventional functional connectivity network is usually constructed based on the pairwise correlation among different brain regions and thus ignores their higher-order relationships. Such loss of high-order information could be important for disease diagnosis, since neurologically a brain region predominantly interacts with more than one other brain regions. Accordingly, in this paper, we propose a novel framework for estimating the hyper-connectivity network of brain functions and then use this hyper-network for brain disease diagnosis. Here, the functional connectivity hyper-network denotes a network where each of its edges representing the interactions among multiple brain regions (i.e., an edge can connect with more than two brain regions), which can be naturally represented by a hyper-graph. Specifically, we first construct connectivity hyper-networks from the resting-state fMRI (R-fMRI) time series by using sparse representation. Then, we extract three sets of brain-region specific features from the connectivity hyper-networks, and further exploit a manifold regularized multi-task feature selection method to jointly select the most discriminative features. Finally, we use multi-kernel support vector machine (SVM) for classification. The experimental results on both MCI dataset and attention deficit hyperactivity disorder (ADHD) dataset demonstrate that, compared with the conventional connectivity network-based methods, the proposed method can not only improve the classification performance, but also help

  1. [Age at disease onset and delayed diagnosis of spondyloarthropathies].

    PubMed

    Feldtkeller, E

    1999-02-01

    A questionnaire with 78 questions concerning the situation of ankylosing spondylitis (AS) sufferers in Germany was distributed to a representative 3000 out of the more than 14,000 patient members of the German AS society; 1614 patients (54%) responded. The age distribution of these patients roughly agrees with that expected due to the distribution of the age at diagnosis and the age distribution of the German population. The group of patients more than 65 years old is, however, under-represented. It turned out that at least 28% of the patients responding do not suffer from idiopathic AS but from other spondyloarthritides (spondylitic psoriasis, spondyloarthritis combined with Crohn's disease or ulcerative colitis). The distribution of the age at disease onset agrees well with that published in 1984 by van der Linden et al.: For 4% of the patients, the age at appearance of the first spondylitic symptoms was less than 15 years, for 90% it was 15-40 years and for the remaining 6% more than 40 years. The average age at disease onset was 25.6 years. The spondyloarthritides do not differ significantly in the distribution of the age at the first spondylitic symptoms. The distribution of the age at diagnosis did not differ significantly between male and female patients, in contrast to the findings by van der Linden et al. in 1984. The average age at diagnosis was 34.3 and 35.3 years for male and female patients, respectively. The resulting mean diagnosis delay for male and female patients was 8.4 and 9.8 years, respectively. Whereas the average diagnosis delay was still 15 years for patients with disease onset in the 1950s, it was only 71/2 years for patients with disease onset in 1975-79. It is not yet possible to predict if an average diagnosis delay less than 71/2 years results for patients with a disease onset later than 1980, because the number of further diagnoses to be expected for patients with disease onset in these years is not negligible. Twenty-six percent of

  2. First-trimester diagnosis of Morquio disease type A.

    PubMed

    Kleijer, W J; Geilen, G C; Garritsen, V; Huijmans, J G; Los, F J; Voznyi, Y V; van Diggelen, O P

    2000-03-01

    Since the introduction in 1990 of a novel fluorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in five cases. The results indicated an affected fetus in one pregnancy which represents the first case of first-trimester diagnosis of this disorder; heterozygosity was demonstrated in two cases. Following amniocentesis, two affected fetuses and one heterozygote were diagnosed. The results of the present prospective prenatal analyses confirm our previous retrospective studies and demonstrate the reliability and convenience of the 4-methylumbelliferyl substrate. PMID:10719317

  3. Diagnosis and Treatment of Nontuberculous Mycobacterial Lung Disease

    PubMed Central

    2016-01-01

    Nontuberculous mycobacteria (NTM) are ubiquitous organisms; their isolation from clinical specimens does not always indicate clinical disease. The incidence of NTM lung diseases has been increasing worldwide. Although the geographic diversity of NTM species is well known, Mycobacterium avium complex (MAC), M. abscessus complex (MABC), and M. kansasii are the most commonly encountered and important etiologic organisms. Two distinct types of NTM lung diseases have been reported, namely fibrocavitary and nodular bronchiectatic forms. For laboratory diagnosis of NTM lung diseases, both liquid and solid media cultures and species-level identification are strongly recommended to enhance growth detection and determine the clinical relevance of isolates. Treatment for NTM lung diseases consists of a multidrug regimen and a long course of therapy, lasting more than 12 months after negative sputum conversion. For MAC lung disease, several new macrolide-based regimens are now recommended. For nodular bronchiectatic forms of MAC lung diseases, an intermittent three-time-weekly regimen produces outcomes similar to those of daily therapy. Treatment of MABC lung disease is very difficult, requiring long-term use of parenteral agents in combination with new macrolides. Treatment outcomes are much better for M. massiliense lung disease than for M. abscessus lung disease. Thus, precise identification of species in MABC infection is needed for the prediction of antibiotic response. Likewise, increased efforts to improve treatment outcomes and develop new agents for NTM lung disease are needed. PMID:27134484

  4. Diagnosis and Treatment of Nontuberculous Mycobacterial Lung Disease.

    PubMed

    Kwon, Yong-Soo; Koh, Won-Jung

    2016-05-01

    Nontuberculous mycobacteria (NTM) are ubiquitous organisms; their isolation from clinical specimens does not always indicate clinical disease. The incidence of NTM lung diseases has been increasing worldwide. Although the geographic diversity of NTM species is well known, Mycobacterium avium complex (MAC), M. abscessus complex (MABC), and M. kansasii are the most commonly encountered and important etiologic organisms. Two distinct types of NTM lung diseases have been reported, namely fibrocavitary and nodular bronchiectatic forms. For laboratory diagnosis of NTM lung diseases, both liquid and solid media cultures and species-level identification are strongly recommended to enhance growth detection and determine the clinical relevance of isolates. Treatment for NTM lung diseases consists of a multidrug regimen and a long course of therapy, lasting more than 12 months after negative sputum conversion. For MAC lung disease, several new macrolide-based regimens are now recommended. For nodular bronchiectatic forms of MAC lung diseases, an intermittent three-time-weekly regimen produces outcomes similar to those of daily therapy. Treatment of MABC lung disease is very difficult, requiring long-term use of parenteral agents in combination with new macrolides. Treatment outcomes are much better for M. massiliense lung disease than for M. abscessus lung disease. Thus, precise identification of species in MABC infection is needed for the prediction of antibiotic response. Likewise, increased efforts to improve treatment outcomes and develop new agents for NTM lung disease are needed. PMID:27134484

  5. Outcomes of Patients With Metastatic Renal Cell Carcinoma and End-Stage Renal Disease Receiving Dialysis and Targeted Therapies: A Single Institution Experience

    PubMed Central

    Shetty, Aditya V.; Matrana, Marc R.; Atkinson, Bradley J.; Flaherty, Amber L.; Jonasch, Eric; Tannir, Nizar M.

    2014-01-01

    Data are limited regarding outcomes in patients with end-stage renal disease (ESRD) and metastatic renal cell carcinoma (mRCC) receiving targeted therapy. We retrospectively identified patients with mRCC and ESRD treated at the University of Texas M.D. Anderson Cancer Center from 2002 to 2012. Fourteen patients were identified with a median number of targeted therapies (TTs) per patient of 3 (range, 1–4). Outcomes in patients with mRCC and ESRD were similar to those reported in patients with normal kidney function. Introduction Limited data are available regarding patients with renal cell carcinoma and ESRD treated with TTs. The objective of this study was to explore the tolerability and safety of TT in patients with mRCC and ESRD. Patients and Methods We retrospectively identified patients with mRCC and ESRD treated at the University of Texas M.D. Anderson Cancer Center from 2002 to 2012. Patient characteristics including demographic, histology, treatment, and adverse events are reported. Duration of treatment (TOT) was determined from date of drug initiation to discontinuation. Overall survival (OS) was determined from initiation of TT to death. Statistics are descriptive. Results Fourteen patients were identified. Ten patients had clear-cell histology and 4 had papillary histology. The median number of TTs per patient was 3 (range, 1–4) with median TOT of 28 months for all TTs. Eighty-eight percent of all toxicities were Grade 1 to 2; no Grade 4 toxicities were noted. Treatment discontinuations included 3 patients treated with sorafenib due to hand-foot syndrome, intolerable fatigue, and squamous cell skin cancer development; 2 patients treated with pazopanib due to intolerable fatigue and increased transaminase levels; and 1 patient treated with everolimus due to pneumonitis. Eight patients died from progressive disease. Median OS from initiation of TT was 28.5 months and 35 months from time of diagnosis. Conclusion Toxicities were mild to moderate and

  6. Stability and Species Specificity of Renal VEGF-A Splicing Patterns in Kidney Disease.

    PubMed

    Turner, R J; Eikmans, M; Bajema, I M; Bruijn, J A; Baelde, H J

    2016-01-01

    Vascular endothelial growth factor A (VEGF-A) is essential for maintaining the glomerular filtration barrier. Absolute renal levels of VEGF-A change in patients with diabetic nephropathy and inflammatory kidney diseases, but whether changes in the renal splicing patterns of VEGF-A play a role remains unclear. In this study, we investigated mRNA splicing patterns of pro-angiogenic isoforms of VEGF-A in glomeruli and whole kidney samples from human patients with kidney disease and from mouse models of kidney disease. Kidney biopsies were obtained from patients with acute rejection following kidney transplantation, patients with diabetic nephropathy, and control subjects. In addition, kidney samples were obtained from mice with lupus nephritis, mice with diabetes mellitus, and control mice. The relative expression of each VEGF-A splice variant was measured using RT-PCR followed by quantitative fragment analysis. The pattern of renal VEGF-A splice variants was unchanged in diabetic nephropathy and lupus nephritis and was stable throughout disease progression in acute transplant rejection and diabetic nephropathy; these results suggest renal VEGF-A splicing stability during kidney disease. The splicing patterns were species-specific; in the control human kidney samples, VEGF-A 121 was the dominant isoform, whereas VEGF-A 164 was the dominant isoform measured in the mouse kidney samples. PMID:27598902

  7. Blood, urine and faecal metabolite profiles in the study of adult renal disease.

    PubMed

    Barrios, Clara; Spector, Tim D; Menni, Cristina

    2016-01-01

    Chronic kidney disease (CKD) is a major public health burden and to date traditional biomarkers of renal function (such as serum creatinine and cystatin C) are unable to identify at-risk individuals before the disease process is well under way. To help preventive strategies and maximize the potential for effective interventions, it is important to characterise the molecular changes that take place in the development of renal damage. Metabolomics is a promising tool to identify markers of renal disease since the kidneys are involved in the handling of major biochemical classes of metabolites. These metabolite levels capture a snap-shot of the metabolic profile of the individual, allowing for the potential identification of early biomarkers, and the monitoring of real-time kidney function. In this review, we describe the current status of the identification of blood/urine/faecal metabolic biomarkers in different entities of kidney diseases including: acute kidney injury, chronic kidney disease, renal transplant, diabetic nephropathy and other disorders. PMID:26476344

  8. l-Carnitine improves cognitive and renal functions in a rat model of chronic kidney disease.

    PubMed

    Abu Ahmad, Nur; Armaly, Zaher; Berman, Sylvia; Jabour, Adel; Aga-Mizrachi, Shlomit; Mosenego-Ornan, Efrat; Avital, Avi

    2016-10-01

    Over the past decade, the prevalence of chronic kidney disease (CKD) has reached epidemic proportions. The search for novel pharmacological treatment for CKD has become an area of intensive clinical research. l-Carnitine, considered as the "gatekeeper" responsible for admitting long chain fatty acids into cell mitochondria. l-Carnitine synthesis and turnover are regulated mainly by the kidney and its levels inversely correlate with serum creatinine of normal subjects and CKD patients. Previous studies showed that l-carnitine administration to elderly people is improving and preserving cognitive function. As yet, there are no clinical intervention studies that investigated the effect of l-carnitine administration on cognitive impairment evidenced in CKD patients. Thus, we aimed to investigate the effects of l-carnitine treatment on renal function and on the cognitive performance in a rat model of progressive CKD. To assess the role of l-carnitine on CKD condition, we estimated the renal function and cognitive abilities in a CKD rat model. We found that all CKD animals exhibited renal function deterioration, as indicated by elevated serum creatinine, BUN, and ample histopathological abnormalities. l-Carnitine treatment of CKD rats significantly reduced serum creatinine and BUN, attenuated renal hypertrophy and decreased renal tissue damage. In addition, in the two way shuttle avoidance learning, CKD animals showed cognitive impairment which recovered by the administration of l-carnitine. We conclude that in a rat model of CKD, l-carnitine administration significantly improved cognitive and renal functions. PMID:27241631

  9. Evaluation and Diagnosis of HIV-Associated Lung Disease.

    PubMed

    Maximous, Stephanie; Huang, Laurence; Morris, Alison

    2016-04-01

    There are myriad pulmonary conditions associated with HIV, ranging from acute infections to chronic noncommunicable diseases. The epidemiology of these diseases has changed significantly in the era of widespread antiretroviral therapy. Evaluation of the HIV-infected patient involves assessment of the severity of illness and a thorough yet efficient pursuit of definitive diagnosis, which may involve multiple etiologies simultaneously. Important clues to a diagnosis include medical and social history, demographic details such as travel and geography of residence, substance use, sexual practices, and domiciliary and incarceration status. CD4 cell count is a tremendously useful measure of immune function and risk for HIV-related diseases, and helps narrow down the differential. Careful history of current symptoms and physical examination with particular attention to extrapulmonary signs are crucial early steps. Many adjunctive laboratory studies can suggest or rule out particular diagnoses. Pulmonary function testing (PFT) may aid in characterization of several chronic noninfectious illnesses accelerated by HIV. Chest radiograph and computed tomography (CT) scan allow for classification of diseases by pathognomonic imaging patterns, although many infectious conditions present atypically, particularly with lower CD4 counts. Ultimately, definitive diagnosis with sputum, bronchoscopy with bronchoalveolar lavage, or lung tissue is often needed. It is of utmost importance to maintain a high degree of suspicion for HIV in otherwise undiagnosed patients, as the first presentation of HIV may be via an acute pulmonary illness. PMID:26974298

  10. Diagnosis and differential diagnosis of hepatic graft versus host disease (GVHD)

    PubMed Central

    Matsukuma, Karen E.; Wei, Dongguang; Sun, Kai; Ramsamooj, Rajendra

    2016-01-01

    Graft versus host disease (GVHD) is a common complication following allogeneic hematopoietic cell transplantation (HCT) that typically manifests as injury to the skin, gastrointestinal mucosa, and liver. In some cases, hepatic GVHD may be histologically indistinguishable from other disorders such as infection and drug-induced liver injury (DILI). Additionally, clinical signs and symptoms are frequently confounded by the superimposed effects of pretransplant chemoradiotherapy, immunotherapy (IT) (targeted to the underlying malignancy), GVHD prophylaxis, and infection. Thus, careful attention to and correlation with clinical findings, laboratory values, and histologic features is essential for diagnosis. This review, aimed at the practicing pathologist, will discuss current clinical and histologic criteria for GVHD, the approach to diagnosis of hepatic GVHD, and features helpful for distinguishing it from other entities in the differential diagnosis. PMID:27034810

  11. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

    PubMed

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-07-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  12. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis

    PubMed Central

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-01-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  13. Renal expression of hypoxia inducible factor-1α in patients with chronic kidney disease: a clinicopathologic study from nephrectomized kidneys

    PubMed Central

    Tung-Wei, Hung; Jia-Hung, Liou; Kun-Tu, Yeh; Jen-Pi, Tsai; Sheng-Wen, Wu; Hui-Chun, Tai; Wei-Tse, Kao; Shu-Hui, Lin; Ya-Wen, Cheng; Horng-Rong, Chang

    2013-01-01

    Background & objectives: Hypoxia inducible factor-1α (HIF-1α) has been shown to play a role in the pathogenesis of renal interstitial fibrosis. However, the relationship of HIF-1α expression intensity in human renal tissue with the degree of renal function or renal fibrosis has not been investigated. We therefore, undertook this study to assess the relationship between HIF-1α expression and degree of renal impairment and renal fibrosis using renal tissue from nephrectomized kidneys from patients with chronic kidney disease. Methods: This retrospective study was performed with 70 patients undergoing unilateral or bilateral nephrectomy because of renal cell carcinoma, urothelial cell carcinoma, or renal abscess. Immunohistochemical analysis of HIF-1α expression in non-tumourous or non-abscess renal parenchyma was performed. The patients were divided into two groups: group 1 (n=37) with low intensity HIF-1α expression and group 2 (n=33) with high intensity HIF-1α expression. Results: The intensity of renal HIF-1α expression was significantly associated with serum creatinine level (P=0.005), estimated glomerular filtration rate (P=0.02), fibrosis score of the interstitium (P=0.004) and glomerular sclerosis (P=0.013). A high intensity of HIF-1α expression tended to be associated with lower serum creatinine, higher estimated glomerular filtration rate, low interstitial fibrosis score and low glomerular sclerosis. In addition, multivariate analysis by step-wise logistic regression demonstrated that interstitial fibrosis was the only independent factor associated with the intensity of renal HIF-1α expression (OR 4.107, CI 1.535-11.313, P=0.005). Interpretation & conclusions: This study demonstrated a correlation between intensity of HIF-1α expression and degree of renal interstitial fibrosis. The association demonstrated an elevated HIF-1α expression in less severe kidney disease. The intensity of HIF-1α renal expression plays a role in the pathogenesis of

  14. Analysis of the New Zealand Black contribution to lupus-like renal disease

    SciTech Connect

    Drake, C.G.; Rozzo, S.J.; Hirschfeld, H.F.; Smarnworawong, N.P.; Palmer, E.; Kotzin, B.L. |

    1995-03-01

    F{sub 1} progeny of New Zealand Black (NZB) and New Zealand White (NZW) mice spontaneously develop an autoimmune process remarkably similar to human systemic lupus erythematosus. Previous studies have implicated major genetic contributions from the NZW MHC and from a dominant NZB gene on chromosome 4. To identify additional NZB contributions to lupus-like disease, (NZB x SM/J)F{sub 1} x NZW backcross mice were followed for the development of severe renal disease and were comprehensively genotyped. Despite a 50% incidence of disease significant associations between the presence of the NZB genotype and disease were noted on chromosomes 1, 4, 7, 10, 13, and 19. The data indicated that multiple NZB genes, in different combinations, contribute to severe renal disease, and that no single gene is required. To further investigate this NZB contribution, NZB x SM/J (NXSM) recombinant inbred (RI) strains were crossed with NZW mice, and F{sub 1} progeny were analyzed for the presence of lupus-like renal disease. Interestingly, nearly all of the (RI x NZW)F{sub 1} cohorts studies expressed some level of disease. Five RI strains generated a high incidence of disease, similar to (NZB x NZW)F{sub 1} mice, and nearly one-half of the cohorts developed disease at intermediate levels. Only two cohorts demonstrated very little disease, supporting the conclusion that multiple genes are capable of disease induction. Experiments correlating the genotypes of these RI strains with their ability to generate disease revealed that none of the disease-associated loci defined by the backcross analysis were present in all five RI strains that generated disease at high levels. Overall, both the backcross data and RI analysis provide additional support for the genetic complexity of lupus nephritis and uphold the conclusion that heterogeneous combinations of contributing NZB genes seem to operate in a threshold manner to generate the disease phenotype. 31 refs., 3 figs., 2 tabs.

  15. [Pathophysiology, epidemiology, clinical presentation, diagnosis and treatment options for autosomal dominant polycystic kidney disease].

    PubMed

    Noël, Natacha; Rieu, Philippe

    2015-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end-stage renal disease (ESRD) worldwide. Its prevalence is evaluated according to studies and population between 1/1000 and 1/4000 live births and it accounts for 6 to 8% of incident ESRD patients in developed countries. ADPKD is characterized by numerous cysts in both kidneys and various extrarenal manifestations that are detailed in this review. Clinico-radiological and genetic diagnosis are also discussed. Mutations in the PKD1 and PKD2 codifying for polycystin-1 (PC-1) and polycystin-2 (PC-2) are responsible for the 85 and 15% of ADPKD cases, respectively. In primary cilia of normal kidney epithelial cells, PC-1 and PC-2 interact forming a complex involved in flow- and cilia-dependant signalling pathways where intracellular calcium and cAMP play a central role. Alteration of these multiple signal transduction pathways leads to cystogenesis accompanied by dysregulated planar cell polarity, excessive cell proliferation and fluid secretion, and pathogenic interactions of epithelial cells with an abnormal extracellular matrix. The mass effect of expanding cyst is responsible for the decline in glomerular filtration rate that occurs late in the course of the disease. For many decades, the treatment for ADPKD aims to lessen the condition's symptoms, limit kidney damage, and prevent complications. Recently, the development of promising specific treatment raises the hope to slow the growth of cysts and delay the disease. Treatment strategies targeting cAMP signalling such as vasopressin receptor antagonists or somatostatin analogs have been tested successfully in clinical trials with relative safety. Newer treatments supported by preclinical trials will become available in the next future. Recognizing early markers of renal progression (clinical, imaging, and genetic markers) to identify high-risk patients and multidrug approaches with synergistic effects may provide new opportunities

  16. Renal biopsy: methods and interpretation.

    PubMed

    Vaden, Shelly L

    2004-07-01

    Renal biopsy most often is indicated in the management of dogs and cats with glomerular disease or acute renal failure. Renal biopsy can readily be performed in dogs and cats via either percutaneous or surgical methods. Care should be taken to ensure that proper technique is used. When proper technique is employed and patient factors are properly addressed, renal biopsy is a relatively safe procedure that minimally affects renal function. Patients should be monitored during the post biopsy period for severe hemorrhage, the most common complication. Accurate diagnosis of glomerular disease, and therefore, accurate treatment planning,requires that the biopsy specimens not only be evaluated by light microscopy using special stains but by electron and immunofluorescent microscopy. PMID:15223207

  17. Specific MAPK inhibitors prevent hyperglycemia-induced renal diseases in type 1 diabetic mouse model.

    PubMed

    Hong, Zhe; Hong, Zongyuan; Wu, Denglong; Nie, Hezhongrong

    2016-08-01

    Mitogen-activated protein kinase (MAPK) and renin-angiotensin system (RAS) play critical roles in the process of renal diseases, but their interaction has not been comprehensively discussed. In the present studies, we investigated the renoprotective effects of MPAK inhibitors on renal diseases in type 1 diabetic mouse model, and clarify the crosstalk among MAPK signaling. Type 1 diabetic mouse model was established in male C57BL/6 J mice, and treated with or without 10 mg/kg MAPK blockers, including ERK inhibitor PD98059, p38 inhibitor SB203850, and JNK inhibitor SP600125 for four weeks. Hyperglycemia induced renal injuries, but treating them with MAPK inhibitors significantly decreased glomerular volume and glycogen in renal tissues. Although slightly changed body weight and fasting blood glucose levels, MAPK inhibitors attenuated blood urea nitrogen, urea protein, and microalbuminuria. Administration also reduced the diabetes-induced RAS activation, including angiotensin II converting enzyme (c) and Ang II, which contributed to its renal protective effects in the diabetic mice. In addition, the anti-RAS of MAPK inhibitor treatment markedly reduced gene expression of tumor necrosis factor-α, interleukin-6, and inducible nitric oxide synthase, fibrotic accumulation, and transforming growth factor-β1 levels in renal tissues. Furthermore, chemical inhibitors and genetic siRNA results identified the crosstalk among the three MAPK signaling, and proved JNK signaling played a critical role in MAPK-mediated ACE pathway in hyperglycemia state. Collectively, these results support the therapeutic effects of MAPK-specific inhibitors, especially JNK inactivation, on hyperglycemia-induced renal damages. PMID:27389030

  18. Influence of Socio-Economic Inequalities on Access to Renal Transplantation and Survival of Patients with End-Stage Renal Disease

    PubMed Central

    Kihal-Talantikite, Wahida; Vigneau, Cécile; Deguen, Séverine; Siebert, Muriel; Couchoud, Cécile; Bayat, Sahar

    2016-01-01

    Background Public and scientific concerns about the social gradient of end-stage renal disease and access to renal replacement therapies are increasing. This study investigated the influence of social inequalities on the (i) access to renal transplant waiting list, (ii) access to renal transplantation and (iii) patients’ survival. Methods All incident adult patients with end-stage renal disease who lived in Bretagne, a French region, and started dialysis during the 2004–2009 period were geocoded in census-blocks. To each census-block was assigned a level of neighborhood deprivation and a degree of urbanization. Cox proportional hazards models were used to identify factors associated with each study outcome. Results Patients living in neighborhoods with low level of deprivation had more chance to be placed on the waiting list and less risk of death (HR = 1.40 95%CI: [1.1–1.7]; HR = 0.82 95%CI: [0.7–0.98]), but this association did not remain after adjustment for the patients’ clinical features. The likelihood of receiving renal transplantation after being waitlisted was not associated with neighborhood deprivation in univariate and multivariate analyses. Conclusions In a mixed rural and urban French region, patients living in deprived or advantaged neighborhoods had the same chance to be placed on the waiting list and to undergo renal transplantation. They also showed the same mortality risk, when their clinical features were taken into account. PMID:27082113

  19. The Potential Role of Catheter-Based Renal Sympathetic Denervation in Chronic and End-Stage Kidney Disease.

    PubMed

    Sata, Yusuke; Schlaich, Markus P

    2016-07-01

    Sympathetic activation is a hallmark of chronic and end-stage renal disease and adversely affects cardiovascular prognosis. Hypertension is present in the vast majority of these patients and plays a key role in the progressive deterioration of renal function and the high rate of cardiovascular events in this patient cohort. Augmentation of renin release, tubular sodium reabsorption, and renal vascular resistance are direct consequences of efferent renal sympathetic nerve stimulation and the major components of neural regulation of renal function. Renal afferent nerve activity directly influences sympathetic outflow to the kidneys and other highly innervated organs involved in blood pressure control via hypothalamic integration. Renal denervation of the kidney has been shown to reduce blood pressure in many experimental models of hypertension. Targeting the renal nerves directly may therefore be specifically useful in patients with chronic and end-stage renal disease. In this review, we will discuss the potential role of catheter-based renal denervation in patients with impaired kidney function and also reflect on the potential impact on other cardiovascular conditions commonly associated with chronic kidney disease such as heart failure and arrhythmias. PMID:26740184

  20. Intestinal tuberculosis and Crohn's disease: challenging differential diagnosis.

    PubMed

    Ma, Jia Yi; Tong, Jin Lu; Ran, Zhi Hua

    2016-03-01

    Along with epidemiological changes in tuberculosis (TB) and an increased incidence of Crohn's disease (CD), the differential diagnosis of intestinal TB (ITB) and CD is of vital importance and has become a clinical challenge because treatment based on misdiagnosis may lead to fatal outcomes. In this study, we reviewed the similarities and differences in clinical, endoscopic, radiological and histological features of these two diseases. Concomitant pulmonary TB, ascites, night sweats, involvement of fewer than four segments of the bowel, patulous ileocecal valve, transverse ulcers, scars or pseudopolyps strongly indicate ITB. Bloody stools, perianal signs, chronic diarrhea, extraintestinal manifestations, anorectal lesions, longitudinal ulcers and a cobblestone appearance are all suggestive of CD. Significant differences in the size, number, location and patterns of granulomas in ITB and CD with regard to their histopathologic features have been noted. Immune stain of cell surface markers is also helpful. Interferon-γ release assay and polymerase chain reaction analysis have achieved satisfactory sensitivity and specificity in the diagnosis of ITB. Computed tomography enterographic findings of segmental small bowel or left colon involvement, mural stratification, the comb sign and fibrofatty proliferation are significantly more common in CD, whereas mesenteric lymph node changes (calcification or central necrosis) and focal ileocecal lesions are more frequently seen in ITB. A diagnosis should be carefully established before the initiation of the therapy. In suspicious cases, short-term empirical anti-TB therapy is quite efficient to further confirm the diagnosis. PMID:26854750

  1. Recent Advances in Conjugated Polymer Materials for Disease Diagnosis.

    PubMed

    Lv, Fengting; Qiu, Tian; Liu, Libing; Ying, Jianming; Wang, Shu

    2016-02-10

    The extraordinary optical amplification and light-harvesting properties of conjugated polymers impart sensing systems with higher sensitivity, which meets the primary demands of early cancer diagnosis. Recent advances in the detection of DNA methylation and mutation with polyfluorene derivatives based fluorescence resonance energy transfer (FRET) as a means to modulate fluorescent responses attest to the great promise of conjugated polymers as powerful tools for the clinical diagnosis of diseases. To facilitate the ever-changing needs of diagnosis, the development of detection approaches and FRET signal analysis are highlighted in this review. Due to their exceptional brightness, excellent photostability, and low or absent toxicity, conjugated polymers are verified as superior materials for in-vivo imaging, and provide feasibility for future clinical molecular-imaging applications. The integration of conjugated polymers with clinical research has shown profound effects on diagnosis for the early detection of disease-related biomarkers, as well as in-vivo imaging, which leads to a multidisciplinary scientific field with perspectives in both basic research and application issues. PMID:26679834

  2. Effects of fasting during Ramadan on renal function of patients with chronic kidney disease.

    PubMed

    Mbarki, Houda; Tazi, Nada; Najdi, Adil; Tachfouti, Nabil; Arrayhani, Mohamed; Sqalli, Tarik

    2015-03-01

    Fasting during Ramadan is prohibited when an individual's health is endangered. Little work has been published in this direction in patients with chronic kidney disease (CKD). We aimed to evaluate the impact of fasting during Ramadan on the renal function of patients with CKD, adjusting for the initial degree of renal impairment. We prospectively studied 60 patients with CKD (35 females; mean age 45.6 ± 15.8 years). All study patients were older than 15 years, being followed-up at the nephrology clinic for more than six months, having a stable CKD during the preceding six months and who had fasted during Ramadan the previous year. Patients who had a medical contra-indication for fasting were excluded from the study [severe or resistant arterial hypertension, insulin-requiring diabetes, acute renal failure (ARF), active renal disease, repetitive urolithiasis or terminal chronic renal failure]. Statistical analysis was performed in collaboration with the epidemiology lab at the Fez Medical School using the SPSS software version 17. Three of the study patients developed ARF in the first week and four of them at the end of the month of the study period. The risk of developing ARF was significantly higher for patients with baseline creatinine clearance of <60 mL/min/1.73 m 2 . However, the small sample size does not allow us to draw any firm conclusions on fasting during Ramadan in stable CKD patients. Studies on larger numbers of patients are recommended. PMID:25758882

  3. TLR4 mutant mice are protected from renal fibrosis and chronic kidney disease progression

    PubMed Central

    Souza, Ana C P; Tsuji, Takayuki; Baranova, Irina N; Bocharov, Alexander V; Wilkins, Kenneth J; Street, Jonathan M; Alvarez-Prats, Alejandro; Hu, Xuzhen; Eggerman, Thomas; Yuen, Peter S T; Star, Robert A

    2015-01-01

    Chronic kidney disease (CKD) is associated with persistent low-grade inflammation and immunosuppression. In this study we tested the role of Toll-like receptor 4, the main receptor for endotoxin (LPS), in a mouse model of renal fibrosis and in a model of progressive CKD that better resembles the human disease. C3HeJ (TLR4 mutant) mice have a missense point mutation in the TLR4 gene, rendering the receptor nonfunctional. In a model of renal fibrosis after folic acid injection, TLR4 mutant mice developed less interstititial fibrosis in comparison to wild-type (WT) mice. Furthermore, 4 weeks after 5/6 nephrectomy with continuous low-dose angiotensin II infusion, C3HeOuJ (TLR4 WT) mice developed progressive CKD with albuminuria, increased serum levels of BUN and creatinine, glomerulosclerosis, and interstitial fibrosis, whereas TLR4 mutant mice were significantly protected from CKD progression. TLR4 WT mice also developed low-grade systemic inflammation, splenocyte apoptosis and increased expression of the immune inhibitory receptor PD-1 in the spleen, which were not observed in TLR4 mutant mice. In vitro, endotoxin (LPS) directly upregulated NLRP3 inflammasome expression in renal epithelial cells via TLR4. In summary, TLR4 contributes to renal fibrosis and CKD progression, at least in part, via inflammasome activation in renal epithelial cells, and may also participate in the dysregulated immune response that is associated with CKD. PMID:26416975

  4. Delayed fatal diagnosis in atypical rickettsial infectious disease.

    PubMed

    Marturano, Federico; Nisi, Fulvio; Peduto, Vito Aldo; Galzerano, Antonio

    2015-12-01

    We report the case of an 84-year-old man admitted to ICU with symptoms/signs occurring after upper respiratory airways disease. The upper respiratory condition consisting in an uvula oedema required an empiric anti-inflammatory and antibiotic therapy which masked the clinical features usually seen in the case of rickettsial infections, especially cutaneous rash. Although the patient subsequently presented unexplained cardiac and neurological involvement, the starting treatment interfered with the diagnostic process, resulting in a delayed diagnosis. Rickettsia and other conditions related with a possible tick bite have to be considered in the list of differential diagnosis especially in the case of severe systemic or localised disease, particularly when the only suspicious sign is a clinical history indicative of a patient living in poor conditions of hygiene. PMID:26700089

  5. Antibody markers in the diagnosis of inflammatory bowel disease

    PubMed Central

    Mitsuyama, Keiichi; Niwa, Mikio; Takedatsu, Hidetoshi; Yamasaki, Hiroshi; Kuwaki, Kotaro; Yoshioka, Shinichiro; Yamauchi, Ryosuke; Fukunaga, Shuhei; Torimura, Takuji

    2016-01-01

    Inflammatory bowel disease (IBD), including Crohn’s disease and ulcerative colitis, is a chronic intestinal inflammation of unknown etiology. The diagnosis of IBD is based on endoscopic, radiologic and histopathologic criteria. Recently, the search for a noninvasive marker that could augment or replace part of this diagnostic process has become a focus of IBD research. In this review, antibody markers, including microbial antibodies, autoantibodies and peptide antibodies, will be described, focusing on their common features. At present, no single marker with qualities that are satisfactory for the diagnosis and treatment of IBD has been identified, although panels of some antibodies are being evaluated with keen interest. The discovery of novel IBD-specific and sensitive markers is anticipated. Such markers could minimize the use of endoscopic and radiologic examinations and could enable clinicians to implement individualized treatment plans designed to improve the long-term prognosis of patients with IBD. PMID:26811667

  6. 76 FR 70227 - Medicare Program; End-Stage Renal Disease Prospective Payment System and Quality Incentive...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-10

    ...This final rule updates and makes certain revisions to the End-Stage Renal Disease (ESRD) prospective payment system (PPS) for calendar year (CY) 2012. We are also finalizing the interim final rule with comment period published on April 6, 2011, regarding the transition budget-neutrality adjustment under the ESRD PPS,. This final rule also sets forth requirements for the ESRD quality incentive......

  7. Obstetric outcomes in women with end-stage renal disease on chronic dialysis: a review

    PubMed Central

    Yang, L Y; Thia, E W H; Tan, L K

    2010-01-01

    Pregnancies in women on chronic dialysis for end-stage renal disease are high risk, but outcomes appear to have improved with increasing experience and advances in dialysis care. This paper reviews the existing data on outcomes in such pregnancies to enable evidence-based preconception counselling and anticipation of antenatal complications.

  8. 75 FR 49029 - Medicare Program; End-Stage Renal Disease Prospective Payment System

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-12

    ... Federal Register a proposed rule entitled ``End-Stage Renal Disease Prospective Payment System'' (74 FR... separately billable services into a single base rate of $198.64 developed from CY 2007 claims data (74 FR... FR 49949). The case-mix adjusters would include variables for age, body surface area (BSA), low...

  9. Mild systemic thermal therapy ameliorates renal dysfunction in a rodent model of chronic kidney disease.

    PubMed

    Iwashita, Yoshihiro; Kuwabara, Takashige; Hayata, Manabu; Kakizoe, Yutaka; Izumi, Yuichiro; Iiyama, Junichi; Kitamura, Kenichiro; Mukoyama, Masashi

    2016-06-01

    Thermal therapy has become a nonpharmacological therapy in clinical settings, especially for cardiovascular diseases. However, the practical role of thermal therapy on chronic kidney disease remains elusive. We performed the present study to investigate whether a modified thermal protocol, repeated mild thermal stimulation (MTS), could affect renal damages in chronic kidney disease using a mouse renal ablation model. Mice were subjected to MTS or room temperature (RT) treatment once daily for 4 wk after subtotal nephrectomy (Nx) or sham operation (Sh). We revealed that MTS alleviated renal impairment as indicated by serum creatinine and albuminuria in Nx groups. In addition, the Nx + MTS group showed attenuated tubular histological changes and reduced urinary neutrophil gelatinase-associated lipocalin excretion approximately by half compared with the Nx + RT group. Increased apoptotic signaling, such as TUNEL-positive cell count and cleavage of caspase 3, as well as enhanced oxidative stress were significantly reduced in the Nx + MTS group compared with the Nx + RT group. These changes were accompanied with the restoration of kidney Mn-SOD levels by MTS. Heat shock protein 27, a key molecular chaperone, was phosphorylated by MTS only in Nx kidneys rather than in Sh kidneys. MTS also tended to increase the phosphorylation of p38 MAPK and Akt in Nx kidneys, possibly associated with the activation of heat shock protein 27. Taken together, these results suggest that modified MTS can protect against renal injury in a rodent model of chronic kidney disease. PMID:27029428

  10. Research in HIV-related renal diseases lags behind their burden to the 'positive' community.

    PubMed

    Szczech, L A

    2007-12-01

    Although outcomes for persons with HIV infection and renal disease have improved, the analysis by Choi et al. suggests that they remain similar to or worse than outcomes for persons with diabetes mellitus. This study should be used to frame the research resources that we devote to furthering knowledge in this area. PMID:18004309

  11. How End-Stage Renal Disease Patients Manage the Medicare Part D Coverage Gap

    ERIC Educational Resources Information Center

    Kovacs, Pamela J.; Perkins, Nathan; Nuschke, Elizabeth; Carroll, Norman

    2012-01-01

    Medicare Part D was enacted to help elderly and disabled individuals pay for prescription drugs, but it was structured with a gap providing no coverage in 2010 between $2,830 and $6,440. Patients with end-stage renal disease (ESRD) are especially likely to be affected due to high costs of dialysis-related drugs and the importance of adherence for…

  12. 77 FR 40951 - Medicare Program; End-Stage Renal Disease Prospective Payment System, Quality Incentive Program...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-07-11

    ... rule (75 FR 49030 through 49214) titled, ``End-Stage Renal Disease Prospective Payment System... November 10, 2011, we published in the Federal Register, a final rule (76 FR 70228 through 70316) titled... the CY 2012 ESRD PPS final rule (76 FR 70228), we clarified the following: For the low-volume...

  13. Laboratory Diagnosis of Lyme Disease - Advances and Challenges

    PubMed Central

    Marques, Adriana R.

    2015-01-01

    Synopsis Lyme disease is the most common tick-borne illness in the United States and Europe. Culture for B. burgdorferi is not routinely available. PCR can be helpful in synovial fluid of patients with Lyme arthritis. The majority of laboratory tests performed for the diagnosis of Lyme disease are based on detection of the antibody responses against B. burgdorferi in serum. The sensitivity of antibody-based tests increases with the duration of the infection, and patients who present very early in their illness are more likely to have a negative result. Patients with erythema migrans should receive treatment based on the clinical diagnosis. The current Centers for Disease Control and Prevention recommendations for serodiagnosis of Lyme disease is a 2-tiered algorithm, an initial enzyme immunoassay (EIA) followed by separate IgM and IgG Western blots if the first EIA test result is positive or borderline. The IgM result is only relevant for patients with illness duration of less than a month. While the 2-tier algorithm works well for later stages of the infection, it has low sensitivity during early infection. A major advance has been the discovery of VlsE and its C6 peptide as markers of antibody response in Lyme disease. Specificity is extremely important in Lyme disease testing, as the majority of tests are being performed in situations with low likelihood of the disease, a situation where a positive result is more likely to be a false positive. Current assays do not distinguish between active and inactive infection, and patients may continue to be seropositive for years. There is a need to simplify the testing algorithm for Lyme disease, improving sensitivity in early disease while still maintaining high specificity and providing information about the stage of infection. The development of a point of care assay and biomarkers for active infection would be major advances for the field. PMID:25999225

  14. Con: Nutritional vitamin D replacement in chronic kidney disease and end-stage renal disease.

    PubMed

    Agarwal, Rajiv; Georgianos, Panagiotis I

    2016-05-01

    Insufficiency of 25-hydroxyvitamin D [25(OH)D] is highly prevalent among patients with chronic kidney disease (CKD) or end-stage renal disease (ESRD) and is a critical component in the pathogenesis of secondary hyperparathyroidism. Accordingly, current National Kidney Foundation-Kidney Disease Outcomes Quality Initiative and Kidney Disease: Improving Global Outcomes guidelines recommend the correction of hypovitaminosis D through nutritional vitamin D replacement as a first-step therapeutic approach targeting secondary hyperparathyroidism. In this Polar Views debate, we summarize the existing evidence, aiming to defend the position that nutritional vitamin D replacement is not evidence-based and should not be applied to patients with CKD. This position is supported by the following: (i) our meta-analysis of randomized controlled trials shows that whereas nutritional vitamin D significantly increases serum 25(OH)D levels relative to placebo, there is no evidence either in predialysis CKD or in ESRD that parathyroid hormone (PTH) is lowered; (ii) on the other hand, in randomized head-to-head comparisons, nutritional vitamin D is shown to be inferior to activated vitamin D analogs in reducing PTH levels; (iii) nutritional vitamin D is reported to exert minimal to no beneficial actions in a series of surrogate risk factors, including aortic stiffness, left ventricular mass index (LVMI), epoetin utilization and immune function among others; and (iv) there is no evidence to support a benefit of nutritional vitamin D on survival and other 'hard' clinical outcomes. Whereas nutritional vitamin D replacement may restore 25(OH)D concentration to near normal, the real target of treating vitamin D insufficiency is to treat secondary hyperparathyroidism, which is untouched by nutritional vitamin D. Furthermore, the pleotropic benefits of nutritional vitamin D remain to be proven. Thus, there is little, if any, benefit of nutritional vitamin D replacement in CKD. PMID:27190392

  15. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease.

    PubMed

    Trimarchi, H; Canzonieri, R; Muryan, A; Schiel, A; Araoz, A; Forrester, M; Karl, A; Lombi, F; Andrews, J; Pomeranz, V; Rengel, T; Zotta, E

    2015-01-01

    The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease. PMID:26064721

  16. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease

    PubMed Central

    Trimarchi, H.; Canzonieri, R.; Muryan, A.; Schiel, A.; Forrester, M.; Karl, A.; Lombi, F.; Andrews, J.; Pomeranz, V.; Rengel, T.; Zotta, E.

    2015-01-01

    The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease. PMID:26064721

  17. Bortezomib produces high hematological response rates with prolonged renal survival in monoclonal immunoglobulin deposition disease.

    PubMed

    Cohen, Camille; Royer, Bruno; Javaugue, Vincent; Szalat, Raphael; El Karoui, Khalil; Caulier, Alexis; Knebelmann, Bertrand; Jaccard, Arnaud; Chevret, Sylvie; Touchard, Guy; Fermand, Jean-Paul; Arnulf, Bertrand; Bridoux, Frank

    2015-11-01

    Monoclonal immunoglobulin deposition disease (MIDD) is a rare complication of plasma cell disorders, defined by linear Congo red-negative deposits of monoclonal light chain, heavy chain, or both along basement membranes. While renal involvement is prominent, treatment strategies, such as the impact of novel anti-myeloma agents, remain poorly defined. Here we retrospectively studied 49 patients with MIDD who received a median of 4.5 cycles of intravenous bortezomib plus dexamethasone. Of these, 25 received no additional treatment, 18 also received cyclophosphamide, while 6 also received thalidomide or lenalidomide. The hematological diagnoses identified 38 patients with monoclonal gammopathy of renal significance, 10 with symptomatic multiple myeloma, and 1 with Waldenstrom macroglobulinemia. The overall hematologic response rate, based on the difference between involved and uninvolved serum-free light chains (dFLCs), was 91%. After median follow-up of 54 months, 5 patients died and 10 had reached end-stage renal disease. Renal response was achieved in 26 patients, with a 35% increase in median eGFR and an 86% decrease in median 24-h proteinuria. Predictive factors were pre-treatment eGFR over 30 ml/min per 1.73 m(2) and post-treatment dFLC under 40 mg/l; the latter was the sole predictive factor of renal response by multivariable analysis. Thus, bortezomib-based therapy is a promising treatment strategy in MIDD, mainly when used early in the disease course. dFLC response is a favorable prognostic factor for renal survival. PMID:26176826

  18. Continuous renal replacement therapy outcomes in acute kidney injury and end-stage renal disease: a cohort study

    PubMed Central

    2013-01-01

    Introduction Continuous renal replacement therapy (CRRT) is a widely used but resource-intensive treatment. Despite its broad adoption in intensive care units (ICUs), it remains challenging to identify patients who would be most likely to achieve positive outcomes with this therapy and to provide realistic prognostic information to patients and families. Methods We analyzed a prospective cohort of all 863 ICU patients initiated on CRRT at an academic medical center from 2008 to 2011 with either new-onset acute kidney injury (AKI) or pre-admission end-stage renal disease (ESRD). We examined in-hospital and post-discharge mortality (for all patients), as well as renal recovery (for AKI patients). We identified prognostic factors for both in-hospital and post-discharge mortality separately in patients with AKI or ESRD. Results In-hospital mortality was 61% for AKI and 54% for ESRD. In patients with AKI (n = 725), independent risk factors for mortality included age over 60 (OR 1.9, 95% CI 1.3, 2.7), serum lactate over 4 mmol/L (OR 2.2, 95% CI 1.5, 3.1), serum creatinine over 3 mg/dL at time of CRRT initiation (OR 0.63, 95% CI 0.43, 0.92) and comorbid liver disease (OR 1.75, 95% CI 1.1, 2.9). Among patients with ESRD (n = 138), liver disease was associated with increased mortality (OR 3.4, 95% CI 1.1, 11.1) as was admission to a medical (vs surgical) ICU (OR 2.2, 95% CI 1.1, 4.7). Following discharge, advanced age became a predictor of mortality in both groups (AKI: HR 1.9, 95% CI 1.2, 3.0; ESRD: HR 4.1, 95% CI 1.5, 10.9). At the end of the study period, only 25% (n = 183) of patients with AKI achieved dialysis-free survival. Conclusions Among patients initiating CRRT, risk factors for mortality differ between patients with underlying ESRD or newly acquired AKI. Long-term dialysis-free survival in AKI is low. Providers should consider these factors when assessing prognosis or appropriateness of CRRT. PMID:23782899

  19. Kidney diseases in children - early diagnosis and prevention.

    PubMed

    Polenakovic, Momir; Gucev, Zoran; Tasic, Velibor

    2016-01-01

    Pediatric kidney diseases were in the focus of the World Kidney Day 2016. Macedonian pediatric nephrologists gave their contribution with public appearance in kindergartens, primary and secondary schools, with interactive lectures and discussion with the youngest about the kidney function, healthy life style and simple measures to prevent kidney and urinary tract diseases. Besides promotive appearance in the media, series of lectures were presented in front of the health professionals. The aim was to attract the attention of the professionals for early diagnosis and prevention of kidney disease. The action starts in utero, followed by early postnatal imaging and assessment, conservative treatment and in selected cases surgical treatment. The emphasis is on the multidisciplinary and comprehensive approach to children and adolescents with kidney diseases. PMID:27442411

  20. Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

    PubMed Central

    Rajanna, Dayananda Kumar; Reddy, Anjani; Srinivas, Naren Satya; Aneja, Ankur

    2013-01-01

    Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common inheritable disease manifesting in infancy and childhood with a frequency of 1:6,000 to 1:55,000 births. The patient in her second trimester presented with a history of amenorrhea. Ultrasound examination revealed bilateral, enlarged, hyperechogenic kidneys, placentomegaly, and severe oligohydramnios. The pregnancy was terminated. An autopsy was performed on the fetus. Both the kidneys were found to be enlarged and the cut surface showed numerous cysts. The liver sections showed changes due to fibrosis. The final diagnosis of autosomal recessive polycystic kidney disease was made based on these findings. In this article, we correlate the ante-natal ultrasound and histopathological findings in autosomal recessive polycystic kidney disease. PMID:23814685