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Sample records for experimental nephrotic syndrome

  1. Nephrotic Syndrome

    Science.gov (United States)

    ... your blood — typically with an artificial kidney machine (dialyzer). Chronic kidney disease. Nephrotic syndrome may cause your ... opportunities Reprint Permissions A single copy of these materials may be reprinted for noncommercial personal use only. " ...

  2. Nephroprotective effect of heparanase in experimental nephrotic syndrome.

    Directory of Open Access Journals (Sweden)

    Suheir Assady

    Full Text Available Heparanase, an endoglycosidase that cleaves heparan sulfate (HS, is involved in various biologic processes. Recently, an association between heparanase and glomerular injury was suggested. The present study examines the involvement of heparanase in the pathogenesis of Adriamycin-induced nephrotic syndrome (ADR-NS in a mouse model.BALB/c wild-type (wt mice and heparanase overexpressing transgenic mice (hpa-TG were tail-vein injected with either Adriamycin (ADR, 10 mg/kg or vehicle. Albuminuria was investigated at days 0, 7, and 14 thereafter. Mice were sacrificed at day 15, and kidneys were harvested for various analyses: structure and ultrastructure alterations, podocyte proteins expression, and heparanase enzymatic activity.ADR-injected wt mice developed severe albuminuria, while ADR-hpa-TG mice showed only a mild elevation in urinary albumin excretion. In parallel, light microscopy of stained cross sections of kidneys from ADR-injected wt mice, but not hpa-TG mice, showed mild to severe glomerular and tubular damage. Western blot and immunofluorescence analyses revealed significant reduction in nephrin and podocin protein expression in ADR-wt mice, but not in ADR-hpa-TG mice. These results were substantiated by electron-microscopy findings showing massive foot process effacement in injected ADR-wt mice, in contrast to largely preserved integrity of podocyte architecture in ADR-hpa-TG mice.Our results suggest that heparanase may play a nephroprotective role in ADR-NS, most likely independently of HS degradation. Moreover, hpa-TG mice comprise an invaluable in vivo platform to investigate the interplay between heparanase and glomerular injury.

  3. Congenital nephrotic syndrome

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    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  4. Radiation nephritis causing nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  5. Congenital nephrotic syndrome.

    Science.gov (United States)

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

  6. Nephrotic syndrome associated with meningioma

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    P P Zachariah

    2013-01-01

    Full Text Available A 58-year-old man presented with recurrent frontal meningioma and nephrotic syndrome. Renal biopsy could not be done in view of the rapid neurological deterioration. The patient underwent surgical resection of the tumor. Within 4 weeks, the edema decreased, serum albumin improved, and proteinuria decreased spontaneously. At three months of followup, the patient had attained complete remission of nephrotic state.

  7. Latest research progress on acute nephrotic syndrome

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    Satinder Kakar

    2017-01-01

    Full Text Available Etiology of nephrotic syndrome is somewhat complex in nature. It may range from primary to secondary forms. Nephrotic syndrome patients often need immunosuppressive treatment although it has some side effects and may lead to renal disease which may be acute or severe. This review deals with herbal treatment and other recent approaches for treating symptoms of nephrotic syndrome.

  8. Treatment of anemia of nephrotic syndrome with recombinant erythropoietin

    NARCIS (Netherlands)

    Gansevoort, RT; Vaziri, ND; deJong, PE

    Nephrotic syndrome has been recently shown to cause erythropoietin (EPO) deficiency in humans and experimental models. However, efficacy and safety of recombinant EPO (rEPO) in the treatment of the associated anemia has not been previously investigated. We report a patient with nephrotic syndrome

  9. NEPHROTIC SYNDROME steroid sensitive renal condition

    African Journals Online (AJOL)

    Nephrotic syndrome is primarily a paediatric disorder and is 15 times more common in children than adults. The incidence is 2–3/100,000 children per year, and the majority of affected children will have steroid- sensitive minimal change disease. The characteristic features of nephrotic syndrome are heavy proteinuria.

  10. Genetic Aspects of Nephrotic Syndrome

    DEFF Research Database (Denmark)

    Joshi, Shivani

    Nephrotic syndrome (NS) is characterized by severe proteinuria, hypoalbuminemia, and edema. Depending on response to steroid treatment, patients either have steroid sensitive NS (SSNS) or steroid resistant NS (SRNS). Patients with SRNS often have a poor renal prognosis, focal segmental glomerulos......Nephrotic syndrome (NS) is characterized by severe proteinuria, hypoalbuminemia, and edema. Depending on response to steroid treatment, patients either have steroid sensitive NS (SSNS) or steroid resistant NS (SRNS). Patients with SRNS often have a poor renal prognosis, focal segmental...... steroid dependence or become frequent relapsers. Repeated courses of corticosteroid treatment often cause significant associated morbidity. Familial occurrence of SSNS is rare and suggests a potential genetic origin. However, very little data on molecular genetics of familial SSNS is available...... SSNS. Study I is the first study to describe the genetic findings in 39 patients with sporadic FSGS and/or SRNS, in a highly selected Danish population. We developed a screening tool (high resolution melting analysis) to search for variants in NPHS1, NPHS2, and INF2 genes. This method was shown...

  11. Nephrotic syndrome and Obstetric anesthesia

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    Vijay Kumar Nagpal

    2017-01-01

    Full Text Available Renal disorders in pregnancy can be both difficult to diagnose and manage. They are associated with poor maternal and/or fetal outcomes. In pregnancy, proteinuria is common and can range from mild urinary protein elevations to nephrotic levels. The diagnosis of nephrotic syndrome (NS can be challenging, especially in pregnancy as it can be confused with preeclampsia. NS has an incidence of 0.012%–0.025% in pregnant women. It is diagnosed by the presence of more than 3 g/day of proteins in urine, serum albumin <30 g/dL, generalized edema, hypercholesterolemia, and lipiduria. Proteinuria with hypertension is characterized by the presence of hematuria, red cell casts, raised serum creatinine, and features suggestive of systemic disease. Other causes of proteinuria include preeclampsia, diabetes mellitus (Type 1 and Type 2, Immunoglobulin A nephropathy (Ig A glomerulonephritis, focal and segmental glomerulosclerosis, and lupus nephritis. The maternal risks of NS include acute kidney insult, chronic renal failure, gestational hypertension, preeclampsia, and complications due to hypoalbuminemia. Fetal considerations in NS include fetal growth retardation, prematurity, stillbirth, fetal anasarca, and polyhydramnios. Preconception counseling and immunosuppressive drug therapy can improve overall fetomaternal outcome. We hereby present a unique case of successful anesthetic management of NS in a parturient along with concurrent hypothyroidism and hypertension, for elective cesarean section.

  12. An unusual case of nephrotic syndrome

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    M Sahay

    2016-01-01

    Full Text Available Nephrotic syndrome can be rarely due to inherited disorders of enzymes. One such variety is lecithin cholesterol acyltransferase deficiency. It leads to accumulation of unesterified cholesterol in the eye and other organs. We report a case of nephrotic syndrome with cloudy cornea and hypocholesterolemia with foam cells and lipid deposits on renal biopsy. Awareness about this rare disease may help in the early institution of specific measures to prevent progression to end-stage renal disease.

  13. Rituximab for nephrotic syndrome in children.

    Science.gov (United States)

    Iijima, Kazumoto; Sako, Mayumi; Nozu, Kandai

    2017-04-01

    Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. At least 20 % of children with this syndrome show frequent relapses and/or steroid dependence during or after immunosuppressive therapies, a condition defined as complicated frequently relapsing/steroid-dependent nephrotic syndrome (FRNS/SDNS). Approximately 1-3 % of children with idiopathic nephrotic syndrome are resistant to steroids and all immunosuppressive agents, a condition defined as refractory steroid-resistant nephrotic syndrome (SRNS); these SRNS children have a high risk of end-stage renal failure. Rituximab, a chimeric anti-CD20 monoclonal antibody, has been shown to be effective for patients with complicated FRNS/SDNS and refractory SRNS. This review describes the recent results of rituximab treatment applied to pediatric nephrotic syndrome, as well as those of our recent study, a multicenter, double-blind, randomized, placebo-controlled trial of rituximab for childhood-onset complicated FRNS/SDNS (RCRNS01). The overall efficacy and safety of rituximab for this disease are discussed.

  14. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  15. Dyslipidaemia in nephrotic syndrome: mechanisms and treatment

    Science.gov (United States)

    Agrawal, Shipra; Zaritsky, Joshua J.; Fornoni, Alessia; Smoyer, William E.

    2018-01-01

    Nephrotic syndrome is a highly prevalent disease that is associated with high morbidity despite notable advances in its treatment. Many of the complications of nephrotic syndrome, including the increased risk of atherosclerosis and thromboembolism, can be linked to dysregulated lipid metabolism and dyslipidaemia. These abnormalities include elevated plasma levels of cholesterol, triglycerides and the apolipoprotein B containing lipoproteins VLDL and IDL; decreased lipoprotein lipase activity in the endothelium, muscle and adipose tissues; decreased hepatic lipase activity; and increased levels of the enzyme PCSK9. In addition, there is an increase in the plasma levels of immature HDL particles and reduced cholesterol efflux. Studies from the past few years have markedly improved our understanding of the molecular pathogenesis of nephrotic syndrome associated dyslipidaemia, and also heightened our awareness of the associated exacerbated risks of cardiovascular complications, progressive kidney disease and thromboembolism. Despite the absence of clear guidelines regarding treatment, various strategies are being increasingly utilized, including statins, bile acid sequestrants, fibrates, nicotinic acid and ezetimibe, as well as lipid apheresis, which seem to also induce partial or complete clinical remission of nephrotic syndrome in a substantial percentage of patients. Future potential treatments will likely also include inhibition of PCSK9 using recently developed anti PCSK9 monoclonal antibodies and small inhibitory RNAs, as well as targeting newly identified molecular regulators of lipid metabolism that are dysregulated in nephrotic syndrome. PMID:29176657

  16. AKI in Children Hospitalized with Nephrotic Syndrome.

    Science.gov (United States)

    Rheault, Michelle N; Zhang, Lei; Selewski, David T; Kallash, Mahmoud; Tran, Cheryl L; Seamon, Meredith; Katsoufis, Chryso; Ashoor, Isa; Hernandez, Joel; Supe-Markovina, Katarina; D'Alessandri-Silva, Cynthia; DeJesus-Gonzalez, Nilka; Vasylyeva, Tetyana L; Formeck, Cassandra; Woll, Christopher; Gbadegesin, Rasheed; Geier, Pavel; Devarajan, Prasad; Carpenter, Shannon L; Kerlin, Bryce A; Smoyer, William E

    2015-12-07

    Children with nephrotic syndrome can develop life-threatening complications, including infection and thrombosis. While AKI is associated with adverse outcomes in hospitalized children, little is known about the epidemiology of AKI in children with nephrotic syndrome. The main objectives of this study were to determine the incidence, epidemiology, and hospital outcomes associated with AKI in a modern cohort of children hospitalized with nephrotic syndrome. Records of children with nephrotic syndrome admitted to 17 pediatric nephrology centers across North America from 2010 to 2012 were reviewed. AKI was classified using the pediatric RIFLE definition. AKI occurred in 58.6% of 336 children and 50.9% of 615 hospitalizations (27.3% in stage R, 17.2% in stage I, and 6.3% in stage F). After adjustment for race, sex, age at admission, and clinical diagnosis, infection (odds ratio, 2.24; 95% confidence interval, 1.37 to 3.65; P=0.001), nephrotoxic medication exposure (odds ratio, 1.35; 95% confidence interval, 1.11 to 1.64; P=0.002), days of nephrotoxic medication exposure (odds ratio, 1.10; 95% confidence interval, 1.05 to 1.15; Pchildren with nephrotic syndrome. Nephrotoxic medication exposure was common in this population, and each additional nephrotoxic medication received during a hospitalization was associated with 38% higher risk of AKI. AKI was associated with longer hospital stay after adjustment for race, sex, age at admission, clinical diagnosis, and infection (difference, 0.45 [log]days; 95% confidence interval, 0.36 to 0.53 [log]days; Pchildren hospitalized with nephrotic syndrome and should be deemed the third major complication of nephrotic syndrome in children in addition to infection and venous thromboembolism. Risk factors for AKI include steroid-resistant nephrotic syndrome, infection, and nephrotoxic medication exposure. Children with AKI have longer hospital lengths of stay and increased need for intensive care unit admission. Copyright © 2015 by the

  17. Congenital nephrotic syndrome. Gallium-67 imaging

    International Nuclear Information System (INIS)

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-01-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

  18. NEPHROTIC SYNDROME: PAST, PRESENT AND FUTURE

    Directory of Open Access Journals (Sweden)

    M. S. Ignatova

    2017-01-01

    Full Text Available This literature review is focused to change our ideas about the etiology, pathogenesis and treatment tactics of the nephrotic syndrome  in recent decades. The change in the treatment outcomes of the primary nephrotic syndrome in connection with the emergence of new  therapy technologies, is shown. Features of the course, examination and therapy of congenital and infantile nephrotic syndrome and  the possibility of the debut of a nephrotic syndrome associated with various gene mutations and at an older age are presented. Principal differences in diagnostic and therapeutic approaches are accentuated depending on the cause of the development of the disease.  Modern syndromological and pathogenetic methods of therapy of primary nephrotic syndrome are presented, and the immediate opportunities for the introduction of new treatment technologies based on the use of monoclonal antibodies, are shown.

  19. Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

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    Tullu M

    1999-10-01

    Full Text Available A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

  20. Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome

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    K K Singh

    2015-01-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, mental retardation, hypogonadism, and renal involvement. Renal involvement in various forms has been seen in BBS. Cases with nephrotic range proteinuria not responding to steroid have been described in this syndrome. Here we report a case of BBS who presented with nephrotic range proteinuria. The biopsy findings were suggestive of minimal change disease. The child responded well to steroid therapy and remains in remission.

  1. Circulating dendritic cells in pediatric patients with nephrotic syndrome

    African Journals Online (AJOL)

    EL-HAKIM

    nephrotic syndrome, circulating DCs were measured by flowcytometry. Results: Circulating DC count ... parents or caregivers of each child before enrollment in the study. ..... role in initiating the primary immune response. On the basis of the ...

  2. Syncope as initial symptom for nephrotic syndrome: a case report

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    Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

    2015-01-01

    Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237

  3. Renal Doppler Indices in Children with Nephrotic Syndrome ...

    African Journals Online (AJOL)

    olayemitoyin

    in proteinuric conditions like Paediatric Nephrotic syndrome (NS) which is a glomerular disease. ... the mean RI and PI of the NS cases and controls, except in the left middle .... predominantly either overweight or obese, when ... Weight (Kg).

  4. Mesothelioma of the testis and nephrotic syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bacchetta Justine

    2009-06-01

    Full Text Available Abstract Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution.

  5. Management of idiopathic nephrotic syndrome in childhood

    Directory of Open Access Journals (Sweden)

    Peco-Antić Amira

    2004-01-01

    Full Text Available The management of idiopathic nephrotic syndrome (INS in children includes immunosuppressive and symptomatic treatment. The response to corticosteroid therapy is the best prognostic marker of the disease. The majority of children with INS (about 85% are steroid-sensitive as they normalize proteinuria within 4 weeks of daily, oral prednisone administration. The most of steroid-sensitive patients (94% has minimal change of nephrotic syndrome, while the majority (80.5%-94.4% of those who are steroid-resistant has focal segmental glomerulosderosis or mesangioproliferative glomerulonephritis. Initial therapy of INS consists of 60 mg/m2/day prednisone daily for 4 weeks followed by 40 mg/m2 on alternate days for 4 weeks, thereafter decreasing alternate day therapy every month by 25% over the next 4 months. Thus, the overall duration of the initial cortico-steroids course is 6 months that may be significantly protective against the future development of frequent relapses. Approximately 30% of patients experience only one attack and are cured after the first course of therapy; 10-20% have only 3 or 4 steroid-responsive episodes before permanent cure; the remaining 40-50% of patients are frequent relapsers, or steroid-dependent. Standard relapse therapy consists of 60 mg/m2/ day prednisone until urine is protein free for at least 3 days, followed by 40 mg/m2 on alternate days for 4 weeks. The treatment of frequent-relapses and steroid-dependent INS includes several different regimens: maintenance (6 months alternate steroid therapy just above steroid threshold (0.1-0.5 mg/kg/ 48h, levamisole, alkylating agents (cyclophosphamide or chlorambucil or cyclosporine. The worse prognosis is expected in steroid-resistant patients who are the most difficult to treat. Renal biopsy should be performed in them. At present, there is no consensus on therapeutic regimen for steroid-resistant patients. The following immunosuppressive drugs have been used with varying

  6. Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome.

    Science.gov (United States)

    Nagaraju, Shankar Prasad; Bairy, Manohar; Attur, Ravindra Prabhu; Sambhaji, Charudutt Jayant

    2016-03-01

    Cerebral venous thrombosis (CVT) and polycythemia are considered as rare and life threatening complications of nephrotic syndrome. We report an unusual combination of both these complications in a case of nephrotic syndrome due to minimal change disease that was treated successfully. There was prompt and complete remission of nephrotic syndrome with steroid therapy, concurrent with complete resolution of polycythemia and CVT.

  7. Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Shankar Prasad Nagaraju

    2016-01-01

    Full Text Available Cerebral venous thrombosis (CVT and polycythemia are considered as rare and life threatening complications of nephrotic syndrome. We report an unusual combination of both these complications in a case of nephrotic syndrome due to minimal change disease that was treated successfully. There was prompt and complete remission of nephrotic syndrome with steroid therapy, concurrent with complete resolution of polycythemia and CVT.

  8. Histopathological types in adult nephrotic syndrome

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    Md. Ghulam Yusuf

    2016-01-01

    Full Text Available In Bangladesh, there are very few studies about biopsy proven adult Nephrotic syndrome (NS with histological types and their clinical findings. To determine the histological types of glomerulonephritis (GN in adult NS and correlate them with the clinical presentations and biochemical parameters, we studied 100 biopsies in 87 patients who underwent ultrasonography- guided renal biopsy in Rangpur Medical College and Hospital from July 2010 to June 2012. The mean age of the patients was 32.8 ± 13.2 years; male was preponderance (72.4% and most of the patients (67.8% came from rural areas. Membranoproliferative GN (MPGN was the most common underlying cause that was found in 32 (36.8% patients followed by mesangial prolife- rative GN in 27 (31% patients, membranous GN in 16 (18.4% cases, minimal change disease in four (4.6% patients, diffuse proliferative GN in four (4.6% patients, focal segmental GN, and focal proliferative GN in two (2.4% patients each. High proteinuria level was found in minimal change disease, which was 7.59 ± 0.24 g/24 h (mean ± standard deviation. The most common symptoms were oliguria (92% and edema (86.2% followed by hematuria (dark urine (72.4% and hypertension (35.6%. MPGN was the most common histological type of adult NS in Rangpur.

  9. Childhood Nephrotic Syndrome in Aminu Kano Teaching Hospital ...

    African Journals Online (AJOL)

    Methods: A prospective study spanning two years (July 2002 – August 2004). Twenty two children with nephrotic syndrome were seen ate the Aminu Kano Teaching Hospital, Kano. The demographic, clinical and laboratory features and response to treatment were documented. Results: Nephritic syndrome made up of 1.2% ...

  10. BILATERAL SEROUS MACULAR DETACHMENT IN A PATIENT WITH NEPHROTIC SYNDROME.

    Science.gov (United States)

    Bilge, Ayse D; Yaylali, Sevil A; Yavuz, Sara; Simsek, İlke B

    2018-01-01

    The purpose of this study was to report a case of a woman with nephrotic syndrome who presented with blurred vision because of bilateral serous macular detachment. Case report and literature review. A 55-year-old woman with a history of essential hypertension, diabetes, and nephrotic syndrome was presented with blurred vision in both eyes. Her fluorescein angiography revealed dye leakage in the early and subretinal pooling in the late phases, and optical coherence tomography scans confirmed the presence of subretinal fluid in the subfovel area. In nephrotic syndrome cases especially with accompaniment of high blood pressure, fluid accumulation in the retina layer may occur. Serous macular detachment must be kept in mind when treating these patients.

  11. Nephrotic Syndrome in a Child Suffering from Tetralogy of Fallot: A Rare Association

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    Pépé Mfutu Ekulu

    2015-01-01

    Full Text Available Nephrotic syndrome is an uncommon complication of tetralogy of Fallot and has been rarely reported in pediatric population. We describe a 4-year-old female Congolese child who was referred for investigation for persistent dyspnea, edema, and cyanosis and nephrotic range proteinuria. Our patient presented with a tetralogy of Fallot and nephrotic syndrome. Conclusion. This case reminds us that children with tetralogy of Fallot may develop nephrotic proteinuria.

  12. Recent Treatment Advances and New Trials in Adult Nephrotic Syndrome

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    Eva Königshausen

    2017-01-01

    Full Text Available The etiology of nephrotic syndrome is complex and ranges from primary glomerulonephritis to secondary forms. Patients with nephrotic syndrome often need immunosuppressive treatment with its side effects and may progress to end stage renal disease. This review focuses on recent advances in the treatment of primary causes of nephrotic syndrome (idiopathic membranous nephropathy (iMN, minimal change disease (MCD, and focal segmental glomerulosclerosis (FSGS since the publication of the KDIGO guidelines in 2012. Current treatment recommendations are mostly based on randomized controlled trials (RCTs in children, small RCTs, or case series in adults. Recently, only a few new RCTs have been published, such as the Gemritux trial evaluating rituximab treatment versus supportive antiproteinuric and antihypertensive therapy in iMN. Many RCTs are ongoing for iMN, MCD, and FSGS that will provide further information on the effectiveness of different treatment options for the causative disease. In addition to reviewing recent clinical studies, we provide insight into potential new targets for the treatment of nephrotic syndrome from recent basic science publications.

  13. [Relationship between hyperuricemia and primary nephrotic syndrome in children].

    Science.gov (United States)

    Xiao, Huijie; Li, Qian; Wang, Fang; Yao, Yong; Zhong, Xuhui

    2014-11-01

    To analyze the relationship between hyperuricemia and primary nephrotic syndrome in childhood. A retrospective study was carried out in 107 children with primary nephrotic syndrome. The clinical data were analyzed with statistical methods to identify the related factors with hyperuricemia. The morbidity of hyperuricemia in children with primary nephrotic syndrome was 45% (48/107). Compared to those in normal serum uric acid group, the incidence of hypertension (33%, 16/48), serum triglyceride [2.59(1.62-3.87) mmol/L], creatinine [43.85(33.38-56.38)mmol/L], urea [6.11(3.77-8.40)mmol/L] and blood uric acid/creatinine ratio [9.30(7.03-12.72)] increased while creatinine clearance rate [141.74(103.57-160.97)ml/(min·1.73 (2))] decreased in hyperuricemia group. Hyperuricemia in children with primary nephrotic syndrome correlated with the increase of serum creatinine, urea and blood uric acid/creatinine ratio, the decrease of creatinine clearance rate and the occurance of hypertension.

  14. Renal Doppler Indices in Children with Nephrotic Syndrome ...

    African Journals Online (AJOL)

    Summary: The resistive and pulsatility indices are known tools for assessing renal function in kidney diseases, especially in proteinuric conditions like Paediatric Nephrotic syndrome (NS) which is a glomerular disease. However, there is a limited knowledge in the use of Doppler Resistive and pulsatility indices in the ...

  15. The management of nephrotic syndrome in children | Hodson ...

    African Journals Online (AJOL)

    Data from RCTs supports the use of alkylating agents (cyclophosphamide, chlorambucil), cyclosporin and levamisole in these children to achieve prolonged periods of remission after induction of remission with prednisone. Steroid resistant nephrotic syndrome is more common in Africa. Few therapies are effective. In such ...

  16. Nephrotic syndrome among children in Kano: A clinicopathological ...

    African Journals Online (AJOL)

    2013-11-14

    Nov 14, 2013 ... generally has a favorable response to glucocorticoid therapy in over 80% of patients.[6‑9] Children having steroid‑resistant nephrotic syndrome (SRNS) with focal and segmental glomerular sclerosis (FSGS) or MCNS run a high risk of resistance to immunosuppressive therapy.[10] The incidence of FSGS ...

  17. CASE REPORT Thirty years old lady with nephrotic syndrome: a ...

    African Journals Online (AJOL)

    CASE REPORT. Thirty years old lady with nephrotic syndrome: a case of biopsy proven lupus nephritis in Tanzania. FRANCIS FREDRICK1,2*, PASCHAL J. RUGGAJO2,3,GYAVIIRA MAKANGA3, CHARLES K. SHIJA3, MIKAEL. AMDEMARIAM3, BELSON RUGWIZAGONGA4 and JAMES N. KITINYA4. 1Department of ...

  18. RENIN ANGIOTENSIN SYSTEM GENE POLYMORPHISMS IN CHILDREN WITH NEPHROTIC SYNDROM

    Directory of Open Access Journals (Sweden)

    Zh.P. Sharnova

    2006-01-01

    Full Text Available To investigate the role of the reninangiotensin system genes polymorphisms in develop and progression of nephrotic syndrom (NS in children we determined the genotypes of angiotensin converting enzyme (ACE, angiotensinogen (AGT and angiotensin ii receptor (ATII-R of 1 type in 80 russian children with ns including and 15 children with chronic renal failure (CRF. Genotype frequencies did not differ between patients with ns and controls (n = 165. The distribution of ace, AGT and ATII-R 1 type genotypes was similar among ns sub groups, such as focal segmental glomerulosclerosis (FSGS (n = 18, steroid-sensitive nephrotic syndrome (n = 32, nephrotic syndrome with hypertension and hemoturia (n = 22 and with control group. When ns subjects with CRF (n = 15 were compared with control, the prevalence of ace DD genotype was significantly higher (47% VS 21%; χ2 = 4,44; p < 0,05. Our results indicate that the DD genotype ace may be a factor of risk for the dеvеlopment of progressive renal impairment in the children with nephrotic syndrome. The analysis of treatment's effect with inhibitor of ace in groups patients with steroid resistant NS (SRNS demonstrated decreasing of renoprotective effect of this drugs in patients with id and dd genotypes com? Pared with ii genotype: the degree of blood pressure, proteinuria and the rate of glomerular filtration decrease was significantly lower (55,46 ± 9,25 VS 92,74 ± 25; р < 0,05 in these patients.Key words: nephrotic syndrom, chronic renal failure, polymorphism of genes, renin-angiotensin system.

  19. Cyclosporine utilization in Idiopathic Nephrotic Syndrome in children

    International Nuclear Information System (INIS)

    Saeed, B.; Sheriff, S.; Ossman, Mohd Imad

    2006-01-01

    The treatment of steroid-resistant focal segmental glomerulosclerosis (FSGS) imposes one the most perplexing and frustrating problems on nephrologists. Cyclosporine A (CsA) is widely considered as the treatment of choice for steroid-resistant or dependent nephrotic children. We reviewed the clinical outcome in children with idiopathic nephrotic syndrome (INS) under CsA treatment. A total of 22 children presented with either steroid resistant nephrotic syndrome (SRNS) (14 children), or steroid-dependent nephrotic syndrome (SDNS) (8 children) during the period from August 2002 to February 2005; the mean age for both groups was 7.6 years (range: 23 months-15 years). Renal histology showed FSGS in 14 (63%) patients, minimal change disease (MCD) in 4(18%), diffuse mesangial glomerulonphritis (MesGN) in three (13.6%), and membranous glomerulonephritis (MGN) in two (6.8%). Treatment with CsA in combination with alternate-day prednisolone induced remission in 15(68%) patients; 9(60%) patients had complete remission and six (40%) partial remission. Seven (50%) patients in SRNS group responded to CsA treatment; two (14.2%) patients had complete remission and 5 (35.7%) had partial remission. Seven ( 87.5%) children in SDNS group had complete remission and one (13.5%) had partial remission. We conclude that this study demonstrates the efficacy of CsA in inducing remission in the steroid dependent is higher than in the steroid resistant nephrotic children. We believe that CsA is probably a good alternative therapy in this population. (author)

  20. Cellulitis as complication of nephrotic syndrome in a pediatric patient

    Science.gov (United States)

    Siregar, R. S.; Daulay, K. R.; Siregar, B.; Ramayani, O. R.; Eyanoer, P. C.

    2018-03-01

    Nephrotic syndrome is a chronic disease that may act as a risk for other major infection in skin, respiratory and urinary tract, while also increasingthe chance for other diseases, like peritonitis, meningitis, and cellulitis. Cellulitis is often caused by Streptococcus β-hemolytic, Staphylococcus aureus, and Escherichia coli. The clinical features of cellulitis marked with redness rash and well-defined borders, pain pressure and swelling. Hypoalbuminemia which occurs due to proteinuria occurred in this patient acts as a risk factor for cellulitis. It has been reported the case of cellulitis as one of the complications of the nephrotic syndrome in the pediatric patient. The treatment has been given to the patient such as antibiotics and supportive therapy and also planned albumin substitution.

  1. Histopathological diagnosis and outcome of paediatric nephrotic syndrome

    International Nuclear Information System (INIS)

    Ejaz, I; Khan, H.I.; Javaid, B.K.; Bhatti, M.T.; Rasool, G.

    2004-01-01

    Objective: To determine the histological picture and outcome of treatment in cases of childhood nephrotic syndrome who needed renal biopsy. Subjects and Methods: Children suffering from nephrotic syndrome who had atypical features at presentation were initially or late non-responders; frequent relapsers on > 1 mg kg/day and were steroid dependent or frequently relapsed on < 1 mg kg/day but developed steroid toxicity were included. Renal biopsy was performed in these patients. Treatment was administered according to the histopathology reports. Prednisolone 60 mg /m/sup 2//day followed after response by 40 mg /m/sup /2 on alternate days (AD) which was later tapered off. In minimal change nephrotic syndrome (MCNS) with frequent relapses cyclophosphamide, cyclosporine and levimisole were used. For steroid resistant focal segmental glomerulosclerosis (FSGS) intravenous pulses of methylprednisolone and cyclosporine were also given. These patients were followed to see the response of the therapy. Results: The commonest diagnosis was focal segmental glomerulosclerosis (FSGS) (42%) followed by minimal change disease (MCNS) (22%), membranoproliferative or mesangiocapillary glomerulonephritis (MPGN) (14%) and Mesangioproliferative glomerulonephritis (Mes PGN) (12%). There were 6% cases of membranous nephropathy and 4% of diffuse proliferative glomerulonephritis. On presentation, 40% had hematuria, 20% were found to be hypertensive, 12% patients had renal insufficiency and in 40% C3 level was low. Majority of the patients with MPGN and FSGS had atypical features whereas none of the patients with membranous nephropathy had any of these features. Thirty percent cases each of FSGS and MCNS were responders. Among non-responders there were 4 cases of FSGS and one of MPGN. Conclusion: FSGS was the commonest histology in cases of childhood nephrotic syndrome that needed renal biopsy. Highest frequency of atypical features was seen in MPGN and FSGS. (author)

  2. CLINICO PATHOLOGICAL STUDY OF NEPHROTIC SYNDROME IN ADULTS

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    Deepa

    2015-11-01

    Full Text Available CONTEXT: Etiology of nephrotic syndrome (NS in adults varies depending on the geographical location and is poorly studied in the Indian subcontinent. AIMS: To study the clinical features, biochemical profile and histopathological pattern of various types of glomerulonephritis in adult patients with nephrotic syndrome. METHODS AND MATERIAL: Patients (≥15 years old with nephrotic syndrome presenting to our center and undergoing a kidney biopsy from May 2009 to August 2011 were included for this study. All biopsies were subjected to light microscopy.The histopathological spectrum was analyzed according to the various clinical parameters. STATISTICAL ANALYSIS USED: Analysis was performed using SPSS software version 19.Measures obtained included percentages,medians,correlation coefficients and chi square tests. RESULTS: A total of 50 kidney biopsies were included in analysis. Twenty six(52% patients were male and twenty four(48% patients were female. The average age at presentation was 15-24 years. Among the patients, 22(44% were diagnosed with primary glomerular diseases (PGD and 4(8% with secondary glomerular diseases (SGD. The most common histological lesions was membranous nephropathy(24.4% followed by minimal change disease (MCD (17% and membranous nephropathy (MN (17%. The most common form of SGD was lupus nephritis (LN (10%. Membranous nephropathy and focal segmental glomerulosclerosis were the commonest lesions in males.Among females,membranous nephropathy was the commonest. 31(62% patients were in the age group of 15-34 yrs, 17(34% were in the age group 34- 54yrs and only 2(4% were aged above 55yrs. Among the patients, 6(12% had serum creatinine ≥1.5 mg/dL and 12(24% had either macroscopic or microscopic hematuria. CONCLUSIONS: Membranous nephropathy is still the commonest type of nephrotic syndrome in adults followed closely by focal segmental glomerulosclerosis and minimal change disease as per this study.

  3. A Study of Hypoalbuminemia and Pleural Effusionin Pediatric Nephrotic Syndrome

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    Tovan Perinandika

    2017-06-01

    Full Text Available Background: Nephrotic syndrome (NS is a kidney disease that is most often found in children. Hypoalbuminemia in NS can cause a decrease in oncotic pressure causing extravasation of fluid into the interstitial space. In conditions of severe hypoalbuminemia, fluid extravasation may cause occurrence of pleural effusion. The objectives of this study was to analyze the correlation between hypoalbuminemia and pleural effusion in children with NS. Methods: An analytical study was conducted on 69 medical records of pediatric nephrotic syndrome from 1 January 2008–31 December 2013 in dr. Hasan Sadikin General Hospital. Inclusion criteria were pediatric patients between 1-14 years old with NS. Exclusion criteria were patients who already had albumin transfusion, malnutrition, patients with chronic disease, and incomplete medical record information. Contingency coefficient test was carried out to discover the correlation between variables. Results: Out of 89 samples, 69 samples were included. Characteristics of the included patients are male (n=48, female (n=21, age 1–5 (n=24, 6–10 (n=22, 11–14 (n=23, mild hypoalbuminemia (n=3, moderate hypoalbuminemia (n=27, severe hypoalbuminemia (n=39, patients with pleural effusion (n=23, and non-pleural effusion (n=46. There was a significant correlation between  hypoalbuminemia and pleural effusion with p=0.000 (p<0.05 and moderate correlation (r=0.437. Conclusions: Hypoalbuminemia has correlation with pleural effusion in pediatric nephrotic syndrome. Keywords: Hypoalbuminemia, pediatric nephrotic syndrome, pleural effusion DOI: 10.15850/amj.v4n2.1075

  4. Nephrotic syndrome: a rare cause of acute coronary syndrome in a child

    International Nuclear Information System (INIS)

    Khan, J.A.; Shamsi, F.

    2012-01-01

    Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multi organ thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report a 13 years old boy with steroid-resistant nephrotic syndrome, who developed an asymptomatic but potentially hazardous large intracardiac thrombus. The child developed nephrotic syndrome at the age of 9 years and had multiple recurrences. At the age of 13 years, he developed myocardial infarction (MI) due to embolism from a large intracardiac thrombus. Later on, he was treated with heparin and warfarin anticoagulation. (author)

  5. Nephrotic Syndrome and Acute Renal Failure Apparently Induced by Sunitinib

    Directory of Open Access Journals (Sweden)

    Ying-Shou Chen

    2009-10-01

    Full Text Available We report a case of nephrotic syndrome and acute renal failure apparently induced by sunitinib. A 67-year-old man with a history of metastatic renal cell carcinoma presented with progressive kidney dysfunction with proteinuria, general edema, and body weight gain of 21 kg after undergoing 3 weeks of sunitinib therapy. The patient had taken no other over-the-counter medications, and all other possible causes of nephrotic syndrome were excluded. The Naranjo Adverse Drug Reaction Probability Scale score for this event was 6, indicating a high probability that the observed presentations were associated with use of the drug. However, despite the discontinuation of sunitinib, his condition deteriorated, and hemodialysis was initiated for respiratory distress. A renal biopsy was performed, which revealed ischemic acute tubular necrosis with minimal change nephropathy. In conclusion, nephrologists and oncologists should be aware that nephrotic syndrome with ischemic acute tubular necrosis is a possible adverse effect of sunitinib. For early diagnosis of this condition and to avoid renal damage, we recommend differential diagnosis of serum creatinine and proteinuria in patients undergoing sunitinib therapy.

  6. Seroprotection for hepatitis B in children with nephrotic syndrome.

    Science.gov (United States)

    Mantan, Mukta; Pandharikar, Nagaraj; Yadav, Sangeeta; Chakravarti, Anita; Sethi, Gulshan Rai

    2013-11-01

    Children with nephrotic syndrome have been shown to have lower seroconversion to various vaccines due to immune dysregulation, prolonged immunosuppressive treatment and recurrent prolonged proteinuria.The primary aim of this study was to determine hepatitis B surface antibody (anti-HBs) titers in children with nephrotic syndrome who had been previously vaccinated against hepatitis B. The secondary aim was to study the association of anti-HBs titers with type of disease, schedule and dose of vaccination, and type of immunosuppressive therapy. This cross-sectional study was conducted in the Department of Pediatrics in a tertiary care hospital between January 2011 and January 2012). All children (aged 1-18 years) with nephrotic syndrome who tested negative for hepatitis B surface antigen and who had previously been vaccinated against hepatitis B, with the last dose being at least 1 month prior to being included in the study. A form consisting of history and clinical details was filled in, and the schedule and dose of vaccination(s) received was noted. A blood sample was taken from all patients for biochemical assessment and determination of anti-HBs titer. The patient cohort comprised 75 children (51 males; 24 females) of whom 42 (56%) had steroid-resistant nephrotic syndrome (SRNS) and 33 (44%) had steroid-sensitive nephrotic syndrome (SSNS). Most patients enrolled in the study (96%) were in remission at the time of the biochemical and serological assessment. Twenty-one (28%) patients had received only steroids, while 72 % also received other immunosuppressants. Forty-six (61.3%) patients had received a double dose of vaccine. Of the 75 children enrolled, 36 (48%) and 39 (52%) had an anti-HBs titer of ≥10 mIU/mL (seroprotected) and children with SRNS are less likely to seroconvert with vaccination. A higher dose (double) of hepatitis B vaccine should be used for vaccinating such patients. Anti-HBs titers should be monitored in SRNS patients post-vaccination, and a

  7. Serial Manifestation of Acute Kidney Injury and Nephrotic Syndrome in a Patient with TAFRO syndrome.

    Science.gov (United States)

    Ito, Seigo; Uchida, Takahiro; Itai, Hiroki; Yamashiro, Aoi; Yamagata, Akira; Matsubara, Hidehito; Imakiire, Toshihiko; Shimazaki, Hideyuki; Kumagai, Hiroo; Oshima, Naoki

    2018-06-06

    A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear. This case suggests that TAFRO syndrome involves both acute kidney injury with minor proteinuria and nephrotic syndrome, and these disorders can develop serially in the same patient.

  8. Serum D-dimer concentrations in nephrotic syndrome track with albuminuria, not estimated glomerular filtration rate.

    LENUS (Irish Health Repository)

    Sexton, D J

    2012-01-01

    The nephrotic syndrome is associated with an increased risk of venous and arterial thrombosis. There are little published data on the distribution, interpretation or determinants of serum D-dimer levels in patients with the nephrotic syndrome. We aimed to describe this relationship.

  9. Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China

    Directory of Open Access Journals (Sweden)

    Yonghui Xia

    2013-05-01

    Full Text Available OBJECTIVES: Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS: Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS: All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases. CONCLUSIONS: The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis.

  10. Risk of Nephrotic Syndrome following Enteroviral Infection in Children: A Nationwide Retrospective Cohort Study.

    Science.gov (United States)

    Lin, Jiun-Nong; Lin, Cheng-Li; Yang, Chi-Hui; Lin, Ming-Chia; Lai, Chung-Hsu; Lin, Hsi-Hsun; Kao, Chia-Hung

    2016-01-01

    Nephrotic syndrome is a common chronic illness encountered during childhood. Infections have been identified as a cause of nephrotic syndrome. The aim of this study was to evaluate the association between enteroviral infection and nephrotic syndrome. A nationwide retrospective cohort study was conducted by analyzing data from the National Health Insurance Research Database in Taiwan. Children aged children were randomly selected as the comparison cohort. The primary endpoint was the occurrence of nephrotic syndrome. This study included 280,087 enterovirus-infected children and 280,085 non-enterovirus-infected children. The mean age of the enterovirus-infected children was 2.38 years, and 53.7% of these children were boys. The overall incidence densities of nephrotic syndrome for enterovirus- and non-enterovirus-infected children were 2.65 and 2.21 per 10,000 person-years, respectively. The enterovirus-infected cohort had a higher cumulative incidence of nephrotic syndrome than did the non-enterovirus-infected cohort (log-rank test, p = 0.01). Multivariable analyses revealed that children with enteroviral infection were significantly associated with an increased risk of nephrotic syndrome compared with those without enteroviral infection (adjusted hazard ratio, 1.20; 95% confidence interval, 1.04-1.39; p = 0.01), particularly in children infected with coxsackievirus. Subgroup analyses revealed that enterovirus-infected girls, children of blue-collar workers, and children without allergies had a higher risk of nephrotic syndrome than did children in the non-enterovirus-infected cohort. This study revealed a significant association between enteroviral infection and nephrotic syndrome. Additional studies elucidating the role and pathogenesis of enterovirus in nephrotic syndrome are warranted.

  11. Chronic graft versus host disease and nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Samia Barbouch

    2014-01-01

    Full Text Available Disturbed kidney function is a common complication after bone marrow transplantation. Recently, attention has been given to immune-mediated glomerular damage related to graft versus host disease (GVHD. We describe a 19-year-old woman who developed membranous glomerulonephritis after bone marrow transplantation (BMT. Six months later, she developed soft palate, skin and liver lesions considered to be chronic GVHD. Fifteen months after undergoing BMT, this patient presented with nephrotic syndrome. A renal biopsy showed mem-branous glomerulonephritis associated with a focal segmental glomerulosclerosis. She was started on corticosteroid treatment with good outcome.

  12. Pulmonary embolism as the primary presenting feature of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Pallavi Periwal

    2016-01-01

    Full Text Available A 36-year-old previously healthy male presented with subacute onset of shortness of breath and chest pain. He was diagnosed with bilateral extensive pulmonary embolism (PE. In the absence of any predisposing factors, an extensive workup for unprovoked thrombophilia was done. During the course of his illness, the patient developed anasarca and was diagnosed to be suffering from nephrotic syndrome (NS, secondary to membranous glomerulopathy. Although, thrombotic complications are commonly associated with NS, it is unusual for PE to be the primary presenting feature in these patients.

  13. History of Nephrotic Syndrome and Evolution of its Treatment

    Directory of Open Access Journals (Sweden)

    Abhijeet ePal

    2016-05-01

    Full Text Available The recognition, evaluation, and early treatment of nephrotic syndrome in infants and children originates from physicians dating back to Hippocrates. It took nearly another thousand years before the condition was described for its massive edema requiring treatment with herbs and other remedies. A rich history of observations and interpretations followed over the course of centuries until the recognition of the combination of clinical findings of foamy urine, swelling of the body, and measurements of urinary protein and blood analyses showed the phenotypic characteristics of the syndrome that were eventually linked to the early anatomic descriptions from first kidney autopsies and then renal biopsy analyses. Coincident with these findings were a series of treatment modalities involving the use of natural compounds to a host of immunosuppressive agents that are applied today. With the advent of molecular and precision medicine, the field is poised to make major advances in our understanding and effective treatment of nephrotic syndrome and prevent its long-term sequelae.

  14. A case of Fournier gangrene complicating idiopathic nephrotic syndrome of childhood.

    Science.gov (United States)

    Wright, A J; Lall, A; Gransden, W R; Joyce, M R; Rowsell, A; Clark, G

    1999-11-01

    A 10-year-old boy presenting with steroid resistant nephrotic syndrome developed Fournier gangrene of the scrotum. Antimicrobial drug therapy, intravenous albumin, excision of necrotic scrotum and left orchidectomy followed by skin grafting 3 weeks later led to an excellent cosmetic and medical result. Six months later he remains nephrotic on diuretic and angiotensin converting enzyme inhibitor medication.

  15. Efficacy of levamisole in children with frequently relapsing and steroid-dependent nephrotic syndrome.

    Science.gov (United States)

    Ekambaram, Sudha; Mahalingam, Vijayakumar; Nageswaran, Prahlad; Udani, Amish; Geminiganesan, Sangeetha; Priyadarshini, Shweta

    2014-05-01

    To assess the efficacy of levamisole in frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome. Retrospective analysis of hospital case records. Pediatric nephrology department of a tertiary referral pediatric hospital. 62 children with frequently relapsing nephrotic syndrome and 35 children with steroid-dependent nephrotic syndrome. Case records of children who were diagnosed as steroid-dependant or frequently-relapsing nephrotic syndrome from June 2004 to June 2011, were reviewed. Levamisole was given daily (2 mg/kg/d) along with tapering doses of alternate day steroids after remission on daily steroids. Levamisole was effective in 77.3% children with a better (80.6%) efficacy in frequently relapsing nephrotic syndrome. A total of 34 children completed 1 year follow-up post levamisole therapy. The cumulative mean (SD) steroid dose 1-year before therapy was 4109(1154) mg/m2 and 1-year post therapy was 661 (11) mg/m2 (P<0.001). The relapses were also less during the period of post-levamisole therapy. Levamisole is an effective alternative therapy in frequently relapsing and steroid-dependent nephrotic syndrome.

  16. A histopathological outlook on nephrotic syndrome: A pediatric perspective

    Directory of Open Access Journals (Sweden)

    M K Arif

    2016-01-01

    Full Text Available The developing world is observing changing histopathological patterns of idiopathic nephrotic syndrome (INS. However, the true burden of non-minimal change disease (non-MCD presenting as INS remains unestimated owing to a paucity of data on renal biopsies. Data were collected from January 2006 to June 2014 on 75 children up to 16 years of age who underwent renal biopsies for INS. Mean age at biopsy was 11.2 ± 3.7 years. The male to female ratio was 1.5:1. A total of 25 (33.3% children were steroid sensitive, 36 (48% were steroid resistant, 10 (13.3% were steroid dependent and 4 (5.3% came with relapse of nephrotic syndrome (NS. Focal segmental glomerulosclerosis (FSGS was the most common histopathological subtype observed in 35 (46.8% children followed by membranous glomerulonephritis (MGN in 11 (14.7%, membranoproliferative glomerulonephritis (MPGN and mesangioproliferative glomerulonephritis (MSGN in 4 (5.3% each and IgA nephropathy in one (1.3%. MCD was the histological lesion in 19 (25.3% children. The histopathology established FSGS as the main underlying cause of steroid resistant NS. The study highlights the emergence of non-MCD as the common cause of INS in the pediatric population and signifies the importance of renal biopsies in children with INS.

  17. A STUDY ON OCULAR FINDINGS IN CHILDREN WITH NEPHROTIC SYNDROME

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    Jezeela K

    2018-03-01

    Full Text Available BACKGROUND Nephrotic syndrome occurs when the filtering units of the kidneys- the glomeruli are damaged. The annual incidence of nephrotic syndrome ranges from 2-7 per 100,000 children. Oral corticosteroids form the cornerstone for management of most children with nephrotic syndrome. Long-term steroid therapy in childhood is associated with a number of significant adverse effectsmajor ophthalmic adverse effects include decreased vision, recurrent hordeolum, posterior subcapsular cataract, pseudotumour cerebri, visual hallucinations. This study aims to analyse the ocular findings in children with nephrotic syndrome, and their treatment related ocular abnormalities. MATERIALS AND METHODS This is a cross sectional study, conducted at The Department of Ophthalmology, Government Medical College Thrissur of 1-year duration. Study participants include patients who attended outpatient department of Paediatrics, Govt. Medical College, Thrissur, with clinical and objective investigational evidence of nephrotic syndrome. 70 children who were included in the study were interviewed with a questionnaire; Detailed history was taken from the patients and their parents, regarding the onset of the disease, treatment details, year of starting steroids, history of hypertension, additional drugs, history of defective vision, headache, allergic diseases of eye, eyelid swellings and use of spectacles. Visual acuity was assessed with Snellen s’ chart. Best corrected visual acuity was noted. Acuity was also measured with spectacles if the child was wearing them. Anterior segment was examined under torchlight and later in slit lamp and in all cases fundus examination and retinoscopy were done after dilating pupils with homatropine. Intraocular pressure was measured with Goldman Applanation Tonometer. RESULTS Since the sample size is small, the exact sex distribution cannot be ascertained. History of headache was present in 45 children (64.3%. Visual acuity was assessed

  18. Stem cell mobilization in idiopathic steroid-sensitive nephrotic syndrome.

    Science.gov (United States)

    Lapillonne, Hélène; Leclerc, Annelaure; Ulinski, Tim; Balu, Laurent; Garnier, Arnaud; Dereuddre-Bosquet, Nathalie; Watier, Hervé; Schlageter, Marie-Hélène; Deschênes, Georges

    2008-08-01

    Steroid-sensitive nephrotic syndrome (SSNS) is classically thought to be a T-cell disorder. The aim of this study was to examine whether or not thymus homeostasis was affected in SSNS. Mature and naive T cell recent thymic emigrants were quantified in the peripheral blood of nephrotic patients and controls. Because the generation of new T cells by the thymus ultimately depends on hematopoietic stem cells, CD34+ cells were also included in the study. Nineteen patients with SSNS during relapse, 13 with SSNS during proteinuria remission, and 18 controls were studied. Cell-surface markers (CD3, CD4, CD8, CD19, CD16, CD56, CD45RA, CD62L, CD34, and CD38) were analyzed by flow cytometric analysis. T-cell rearrangement excision circles (TRECs) were quantified in CD2+ cells by real-time polymerase chain reaction. Stroma cell-derived factor-1 (SDF-1) genotype and metalloproteinase-9 (MMP-9) plasma levels were also determined. Mature T cells (CD4+ and CD8+), circulating naive T cells (CD62L+ and CD3+ CD62L+), and recent thymic emigrants (CD45RA+) as well as TRECs, that measure thymus production, had a similar level in the three groups of patients. Conversely, CD34+ hematopoietic stem cells displayed a two-fold increase in SSNS patients during relapse either compared with controls or SSNS patients at remission. In addition, compared with controls, SSNS patients at remission displayed (1) a decrease in CD19+ cells (B cells) and (2) an increase in CD16CD56+ cells [natural killer (NK) cells]. In conclusion, thymus homeostasis is not significantly affected in nephrotic patients. Hematopoietic stem-cell mobilization at proteinuria relapse, as well as changes in B and NK cells during remission, suggest that SSNS might be due to a general disturbance of hematopoietic and immune cell trafficking.

  19. The evidence-based approach to adult-onset idiopathic nephrotic syndrome

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    Pietro A. Canetta

    2015-09-01

    Full Text Available Adult-onset nephrotic syndrome differs from its pediatric counterpart in several important ways. Most importantly, nephrotic syndrome in adults is more etiologically heterogeneous compared to children, and thus treatment approaches rely heavily on the histologic diagnosis provided by renal biopsy. The evidence-based approach to treatment of adult nephrotic syndrome has been critically examined by the Kidney Disease Improving Global Outcomes (KDIGO guidelines in glomerulonephritis, published in 2012. Here, we examine the strengths and limits of those guidelines and review recent work that expands the evidence-based approach.

  20. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

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    Hazza Issa

    1999-01-01

    Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

  1. Nephrotic syndrome with a nephritic component associated with toxoplasmosis in an immunocompetent young man.

    OpenAIRE

    Barrios, Julio E; Duran Botello, Claudia; González Velásquez, Tania

    2012-01-01

    Introduction: Although the association of infection by toxoplasmosis with the development of nephrotic syndrome is uncommon, cases of this association have nevertheless been reported in the literature for more than two decades, not only for congenital toxoplasmosis, but also in acquired cases, and occasionally in immunocompetent patients. Development: A case is presented of an immunocompetent patient aged 15 with clinical and laboratory indications of nephrotic/nephritic syndrome, in whom ser...

  2. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    International Nuclear Information System (INIS)

    Pirogovsky, A.; Adi, M.; Barzilai, N.; Dagan, A.; Sinai, L.; Sthoeger, D.; Tabachnik, E.

    2001-01-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  3. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pirogovsky, A.; Adi, M.; Barzilai, N. [Dept. of Radiology, Kaplan Medical Center, Rehovot (Israel); Dagan, A.; Sinai, L.; Sthoeger, D. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Tabachnik, E. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Paediatric ICU, Kaplan Hospital, Rehovot (Israel)

    2001-10-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  4. A rare association of Castleman′s disease and nephrotic syndrome

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    I Tazi

    2011-01-01

    Full Text Available Castleman′s Disease (CD is an uncommon and poorly understood disorder of lymph node hyperplasia of unknown etiology. This entity belongs to the atypical lymphoproliferative disorders, a heterogeneous group of diseases characterized by a hyperplastic reactive process involving the immune system. The association of the nephrotic syndrome and CD is extremely rare and their interrelation remains enigmatic. We report a case of CD of the hyaline-vascular type with unicentric localization complicated by nephrotic syndrome.

  5. Profound nephrotic syndrome in a patient with ovarian teratoma

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    Abdallah Jeroudi

    2013-01-01

    Full Text Available The nephrotic syndrome (NS has been associated with a variety of malignancies in a number of reports in the literature, but has been reported in only nine cases associated with ovarian neoplasms. Membranous nephropathy is the most common glomerular pathology causing the NS in patients with solid tumors. There has been only one report of an ovarian neoplasm associated with minimal change disease (MCD. We describe the case of a 36-year-old woman who presented with the NS secondary to biopsy-proven MCD, likely secondary to mature ovarian teratoma. Treatment by tumor removal and prednisone led to remission of the NS. To the best of our knowledge, this is the first report of an ovarian teratoma and the second report of an ovarian neoplasm associated with MCD.

  6. Toxic epidermal necrolysis associated with deflazacort therapy with nephrotic syndrome

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    Eun Chae Lee

    2014-12-01

    Full Text Available Toxic epidermal necrolysis (TEN is a drug-related fatal disease. Extensive necrosis of the epidermis can lead to serious complications. This report describes two cases of TEN, associated with deflazacort (DFZ, in two boys, aged 4 years and 14 years, with nephrotic syndrome (NS. The 14-year-old male teenager received DFZ following NS relapse. After 17 days, pruritic papules appeared on the lower extremities. Another case involved a 4-year-old boy receiving DFZ and enalapril. After a 41-day DFZ treatment period, erythematous papules appeared on the palms and soles. Within 3 days, both boys developed widespread skin lesions (>50% and were admitted to the intensive care unit for resuscitative and supportive treatment. The patients showed improvement after intravenous immunoglobulin-G therapy. Owing to the rapid, fatal course of TEN, clinicians need to be aware of the adverse effects of this drug when treating cases of NS.

  7. Childhood Idiopathic Steroid Resistant Nephrotic Syndrome, Different Drugs and Outcome

    International Nuclear Information System (INIS)

    Shah, S. S. H.; Hafeez, F.

    2016-01-01

    Background: The management of steroid resistant nephrotic syndrome (SRNS) is quite difficult in paediatric patients. Not only the remission is difficult but also these patients are at risk of progression to end stage renal disease (ESRD). The goal of treatment is either to achieve complete remission or even partial remission as it is the most important predictor of disease outcome. Methods: This study was conducted at The Children Hospital, Lahore from February 2014 to May 2015. The SRNS patients of either sex between ages of 1-12 years were included with histology showing mesangioproliferative glomerulonephritis (MesangioPGN), focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Patients were given different immunosuppressant drugs and steroid 30 mg/m/sup 2/ alternate day therapy on case to case basis and kept on regular follow up to check for response and adverse effects. Results: Total of 105 patients included, 63 (60 percent) male and 42 (40 percent) female patients. The age ranges from 1.08 to 12 years, mean age of 6.53 years and SD of ±3.17. Tacrolimus was the most common drug used 43 (41 percent) patients followed by cyclosporine in 38 (36.2 percent) patients, while Mycophenolate mofetil (MMF) was prescribed in 21 (20 percent) patients. Complete response was in 96 (91.4 percent) initially while partial response was seen in 8 (7.6 percent) patients. On follow up, 92 (87.6 percent) patients showed complete response and partial response was in 5 (4.7 percent) patients. Cushingoid features and hypertrichosis were the most common adverse effect seen. Conclusion: Steroid resistant nephrotic syndrome can be managed well with various immunosuppressant drugs and steroids but treatment should be individualized according to clinical presentation, disease histology and cost/social factors. (author)

  8. Idiopathic Nephrotic Syndrome in Childhood: A Retrospective Analysis of Two Hundred and Eighty Nine Patients

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    Kenan Yılmaz

    2017-12-01

    Full Text Available Aim: In this study, we aimed to evaluate the demographic and histopathological characteristics and response to medications in children with idiopathic nephrotic syndrome in Turkey. Methods: We reviewed medical records of patients older than one year, who were newly diagnosed with nephrotic syndrome and had been followed for at least one year in our department between November 1994 and March, 2013. Results: A total of 289 children (169 boys were included in the study. Fifty theree patients (18.4% were with steroid-resistant nephrotic syndrome, 33 (11.4% with frequently relapsing nephrotic syndrome and 53 (18.4% were with steroid-dependent nephrotic syndrome. Cyclosporine A (CsA, cyclophosphamide, mycophenolate mofetil, levamisole, azathioprine, and rituximab were used as steroid-sparing agents in some patients. The number of patients who were responder to steroid and to CsA was similar. Majority of patients with steroid-resistant nephrotic syndrome were also resistant to mycophenolate mofetil and CsA. Conclusion: There was a high prevalence of minimal change disease based on kidney biopsy especially in boys younger than six years of age and response to steroid and CsA was almost similar.

  9. Sonography and dynamic scintigraphy with 99mTc-DTPA in children with nephrotic syndrome

    International Nuclear Information System (INIS)

    Bliznakova, D.; Klisarove, A.

    2000-01-01

    The aim of the study is to assay the clinical application of kidney sonography and dynamic scintigraphy with 99m Tc-DTPA in children presenting nephrotic syndrome. A total of 32 children (mean age 9.5±1.2) are covered by the study, with the most important laboratory investigations being performed. All patients undergo abdominal sonography and dynamic kidney scintigraphy following iv administration of 100 μC/kg 99m Tc-DTPA, and glomerular filtration clarence (GFR) measured by the method of full and empty syringe activity. The functional curves are also shown. In children with primary nephrotic syndrome the sonographic imaging reveals enlarged kidney size and enhanced sonogeneity of parenchyma in the first stage. In patients with secondary nephrotic syndrome increased kidney size is likewise observed with enhanced sonogeneity of parenchyma in second stage and unclear visualization of pyramids. In children with idiopathic nephrotic syndrome the scintigraphic data confirm the enlarged kidneys with moderately increased values of GFR. In the mixed forms of nephrotic syndrome the kidneys preserve their moderate enlargement against the background of heterogeneous GFR values. In 5 patients the functional curves show kidney excretion impairment. The study confirms that sonographic imaging correlates well with the dynamic scintigraphic 99m Tc-DTPA imaging in children with nephrotic syndrome. The functional curves and GFR values promote accurate diagnosing and monitoring of the dynamic pathological processes. (author)

  10. Children with Steroid-resistant Nephrotic Syndrome: a Single-Center Study

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    Rahime Renda

    2016-01-01

    Full Text Available Background and Aim: Steroid-resistant nephrotic syndrome (SRNS accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. These patients are at risk of developing end-stage renal disease. The aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with SRNS.Materials and Methods: This retrospective study included 31 patients diagnosed as primary SRNS. Age at first episode, gender, parental consanguinity, and familial history of nephrotic syndrome were recorded. Demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis were analyzed, as were the number of and treatment of relapses, extra-renal manifestations, and complications of disease and treatment.Results: Mean age at first episode of nephrotic syndrome was 4,1±2,9 years. At the end of the first immunosuppressive treatment cycle, 14 (51.8% patients achieved complete remission, 4 (14.8% patients achieved partial remission, and 9 patients (33.3% did not achieve remission. Analysis of the final status of the patients showed that 16 patients (51.6% developed remission, 5 patients (16% continued to have nephrotic range proteinuria and 10 patients (32% developed chronic renal failure (CRF.Conclusion: The treatment of SRNS remains controversial. Early genetic testing can help the inevitable immunosuppressive treatments which may not be effective and have several side effects. Calcineurin inhibitors and mycophenolate mofetil are known to be effective immunosuppressive drugs for treating steroid resistant nephrotic syndrome .

  11. Successful treatment of dwarfism secondary to long-term steroid therapy in steroid-dependent nephrotic syndrome.

    Science.gov (United States)

    Sun, Linlin; Chen, Dongping; Zhao, Xuezhi; Xu, Chenggang; Mei, Changlin

    2010-01-01

    Prolonged steroid therapy is generally used for steroid-dependent nephrotic syndrome in pediatric patients. However, dwarfism secondary to a long-term regimen and its successful reverse is rarely reported. The underlying mechanism of dwarfism is still poorly understood, as both long-term steroid use and nephrotic syndrome may interact or independently interfere with the process of growth. Here, we present a 17-year-old patient with dwarfism and steroid-dependent nephrotic syndrome and the successful treatment by recombinant human growth factor and cyclosporine A with withdrawal of steroid. We also briefly review the current understanding and the management of dwarfism in pediatric patients with nephrotic syndrome.

  12. Neutrophil chemokines levels in different stages of nephrotic syndrome

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    Ashwag S Alsharidah

    2017-01-01

    Full Text Available Nephrotic syndrome (NS is a disease of glomerular filtration barrier failure presenting with variable degrees of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Inflammation may contribute to the pathogenesis of NS. The aim of this study was to monitor the serum levels of three cytokines [i.e., granulocyte chemotactic protein-2 (GCP-2, growth-related oncogene-α (GRO-α, and interleukin-8 (IL-8] in different stages of NS and to find out whether changes in the levels of these cytokines could be related to the severity of NS. This study included 125 patients who were divided into 40 patients with nephrotic range proteinuria (NRP, 45 patients with NS, and 40 patients who were in remission. This study also included 80 healthy participants as a control group. Enzyme-linked immunosorbent assay was used for the determination of the plasma levels of GRO-α, GCP-2, and IL-8. GCP-2 plasma levels were significantly higher in the NS and NRP groups when compared to the control group, whereas the GRO-α and IL-8 levels were significantly higher in all patient groups in comparison with the control group. All these chemokine levels were significantly decreased in remission as compared with the participants in the NS group (P <0.0001. There was a significant correlation between the cytokine levels and proteinuria and serum albumin in the NS group (P <0.0001. However, in the follow-up group, GCP-2 levels were significantly lower during remission as compared to those with active NS (P <0.0001. Our findings suggest that the pro-inflammatory cytokines GCP-2, GRO-α, and IL-8 could play a role in the pathogenesis of NS, particularly glomerular permeability.

  13. Correlation between Oxidative Stress and Thyroid Function in Patients with Nephrotic Syndrome

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    Sangita U. Sawant

    2011-01-01

    Full Text Available Background. The present study is to look for a correlation between oxidative stress and thyroid function in patients with the nephrotic syndrome in the remission phase as well as in a persistent proteinuric state. Introduction. Nephrotic syndrome is a form of chronic kidney disease due to which blood loses protein through the urine. We wanted to know if there was an increased loss of thyroid hormones in urine affecting thyroid function. Methods. 60 patients with nephrotic syndrome and 20 healthy non-proteinuric individuals as control subjects were enrolled in the study. We measured their serum tri-iodothyronine, thyroxine and thyroid-stimulating hormone. Estimation of lipid peroxidation (LPx catalase, superoxide dismutase (SOD, and Glutathione peroxidase (GPx were carried out by standard methods. Results. TSH was elevated in the nephrotic patients compared to controls, while TT4 and TT3 were significantly lower in the patients than in controls. Lipid Peroxidation and GPx were significantly higher in the nephrotic syndrome patients than in the controls, while SOD and catalase were significantly lower than in patients than in the control subjects. Conclusion. Nephrotic patients can lose significant amounts of thyroid hormones along with protein in urine, which can affect thyroid status, but this is reversible on remission.

  14. Surgical abdomen in patients with nephrotic syndrome: complexities of differential diagnostics. 2 case reports

    OpenAIRE

    Nogaibayeva, A.; Moldakhmetova, S.; Tuganbekova, S.; Krivoruchko, N.

    2014-01-01

    INTROduCTIONANdAIMS: Differential-diagnostic search is very important at the stage of abdominal nephrotic crisis for determination of therapy tactics; as the probability of development of acute surgical pathology is very high, due to connection of infectious complications on a background of the basic pathology and immunosupression. We report 2 patients with acute onset of abdominal pain on a background of severe nephrotic syndrome (NS). METHOdS: Case 1: 20-years old man with bioptic diagnosis...

  15. The role of novel biomarkers in childhood idiopathic nephrotic syndrome: a narrative review of published evidence

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    Uwaezuoke SN

    2017-06-01

    Full Text Available Samuel N Uwaezuoke Department of Pediatrics, Pediatric Nephrology Firm, University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu, Nigeria Abstract: Two histological subtypes of idiopathic nephrotic syndrome are commonly recognized in children, namely minimal change nephropathy and focal segmental glomerulosclerosis. Children with minimal change nephropathy (the majority of whom are steroid-sensitive and focal segmental glomerulosclerosis (the majority of whom are steroid-resistant require early identification in order to ensure appropriate therapeutic intervention and better outcome. Although renal biopsy and histology remain the ideal diagnostic steps to identify these histological subtypes, reports indicate that serum and urinary biomarkers are now being utilized in the investigation of childhood idiopathic nephrotic syndrome. This paper aims to review the diagnostic and prognostic utility of novel biomarkers in childhood idiopathic nephrotic syndrome and to highlight their role in differentiating steroid-sensitive nephrotic syndrome (SRNS from steroid-resistant nephrotic syndrome (SSNS. Using the terms “idiopathic nephrotic syndrome,” “children,” and “biomarkers” the PubMed database was searched for relevant studies related to the topic. Biomarkers such as adiponectin, neopterin, β2-microglobulin, and N-acetyl-β-D glucosaminidase were reported as diagnostic markers. In addition to neopterin and N-acetyl-β-D glucosaminidase, urine vitamin D-binding protein and α1β-glycoprotein were shown to differentiate SRNS from SSNS while N-acetyl-β-D glucosaminidase and β2-microglobulin could predict steroid responsiveness and renal outcome in SRNS. Although progress has been made in demonstrating the diagnostic and prognostic utility of these biomarkers, their limited availability in most laboratories has precluded a complete paradigm shift from the conventional renal biopsy. Nevertheless, further longitudinal studies are required

  16. Tacrolimus drug level and response to treatment in idiopathic childhood steroid resistant nephrotic syndrome

    International Nuclear Information System (INIS)

    Shah, S.S.; Hafeez, F.; Akhtar, N.

    2015-01-01

    The management of Steroid Resistant Nephrotic Syndrome (SRNS) is an uphill task for paediatric nephrologists as immunosuppressive agents are the mainstay of treatment in these patients. Tacrolimus is used along with steroids. This study is conducted to see the relationship between the tacrolimus dose, drug level and response in the management of SRNS. Methods: This quasi experimental study was conducted at The Childrens Hospital Lahore over a period of one year. Patients with SRNS of either sex and 1-10 years of age were included and those with secondary nephrotic syndrome were excluded. Tacrolimus was given at a dose of 0.05-0.1 mg/kg/day in 2 divided doses along with steroids. The follow-up was done for six months with proteinuria monitoring and tacrolimus drug levels done two weeks after initiation of treatment. Results: Out of 42 patients, 27 (64.3%) were males and 15 (35.7%) were females. The most common histological diagnosis observed was mesangio-proliferative glomerulonephritis in 30 (71.4%) patients. The tacrolimus trough level range was 0.5-15.20 ng/ml with a mean value of 4.68 ng/ml±2.85. Forty-one (97.6%) children showed complete response to treatment while one patient showed partial response. Conclusion: This study suggests that tacrolimus is an effective drug for treatment of SRNS in paediatric patients and there is no linear relationship between the drug dose, response and drug level. (author)

  17. Determinants of plasma homocyst(e)ine in patients with nephrotic syndrome.

    Science.gov (United States)

    Joven, J; Arcelús, R; Camps, J; Ordóñez-Llanos, J; Vilella, E; González-Sastre, F; Blanco-Vaca, F

    2000-01-01

    Hyperhomocyst(e)inemia is an independent risk factor for atherothrombosis in several clinical settings in which renal function is impaired, but its prevalence in the nephrotic syndrome has not been investigated in detail, even though this syndrome provides an excellent model in which to study a possible link between albuminuria, proteinuria, and hyperhomocyst(e)inemia. We obtained plasma and urine from 27 patients with biopsy-confirmed membranous glomerulonephritis presenting nephrotic syndrome and 27 matched controls and determined the concentrations of homocyst(e)ine and proteins considered putative markers of glomerular and tubular function. Hyperhomocyst(e)inemia, defined as the mean +SD of the plasma homocyst(e)ine concentration of the controls [plasma homocyst(e)ine concentration >10.8 micromol/l] was present in 26% of the patients with nephrotic syndrome but in only 7.4% of the controls. Furthermore, the degree of hyperhomocyst(e)inemia was more severe in the nephrotic patients than in the controls. The existence of renal failure, tubular damage, and, interestingly, relatively well conserved glomerular function barrier were the main predictors of increased levels of plasma homocyst(e)ine. In conclusion, hyperhomocyst(e)inemia is a frequent cardiovascular risk factor present in patients with nephrotic syndrome and renal failure, but it is not directly associated with proteinuria.

  18. Low molecular weight heparin may benefit nephrotic remission in steroid‑sensitive nephrotic syndrome via inhibiting elastase.

    Science.gov (United States)

    Zhai, Songhui; Hu, Lijuan; Zhong, Lin; Tao, Yuhong; Wang, Zheng

    2017-12-01

    Low molecular weight heparin (LMWH) has a structure similar to heparan sulfate, which exerts anti‑inflammatory effects via inhibiting elastase (Ela) activity. Release of Ela along the glomerular capillary wall may induce glomerular injury and proteinuria. The present study aimed to investigate the influence of LMWH on steroid‑sensitive nephrotic syndrome (SSNS) and the potential underlying mechanism. A total of 40 SSNS patients and 20 healthy controls were recruited. SSNS patients were treated with LMWH and prednisone simultaneously (LMWH+pred group) or with prednisone alone (pred group). Proteinuria, urinary glycosaminoglycans (GAGs), serum Ela and urinary creatinine levels were measured. The nephrotic period of SSNS was 15.93±5.78 days. The nephrotic period of SSNS in LMWH+pred group was significantly reduced compared with the pred group (14.13±4.56 vs. 18.63±6.49 days; PEla levels (77.64±10.99 ng/l) were significantly greater in the nephrotic period of SSNS compared with the remission period (0.107±0.026 g/24 h, 1.53±0.27 mg/mmol Cr and 41.92±7.81 ng/l, respectively) and the healthy control group (0.098±0.027 g/24 h, 1.40±0.26 mg/mmol creatinine and 38.43±9.83 ng/l, respectively; PEla levels in the LMWH+pred group were significantly reduced compared with the pred group (P0.05). Positive correlations were revealed between urinary GAG excretion and proteinuria (r=0.877; PEla levels (r=0.844; PEla levels and urinary GAG excretion (r=0.881; PEla levels may induce proteinuria by degrading GAGs in the glomerular basement membrane in children with SSNS. LMWH may benefit nephrotic remission of SSNS via inhibiting Ela.

  19. Histopathological patterns in paediatric idiopathic steroid resistant nephrotic syndrome

    International Nuclear Information System (INIS)

    Shah, S.S.H.; Akhtar, N.; Rehman, M.F.U.; Sunbleen, F.; Ahmed, T.

    2015-01-01

    Background: Steroid-resistant nephrotic syndrome (SRNS) is a common problem but difficult to treat for pediatric nephrologists. Due to paucity of studies done in few centres in southern Pakistan regarding the histopathological aspects in paediatric patients with SRNS, this study was conducted to determine the histopathological spectrum in children with SRNS at our centre. Method: This descriptive study has been conducted at the Nephrology department, The Children's Hospital Lahore from February 2014 to January 2015. Based upon history, physical examination and laboratory results, all patients diagnosed as idiopathic SRNS were included in the study and renal biopsy was done to determine the underlying pathology. Histopathology reports were retrieved and data analysis done using SPSS-20.0. Results: There were a total of 96 patients, 64 (66.7 percentage) males and 32 (33.3 percentage) females. The age range was from 0.80 to 15 years with mean age of presentation being 6.34+3.75 years. The most common histo-pathological pattern was mesangio-proliferative Glomerulonephritis found in 79 (82.3 percentage) cases followed by Focal segmental glomerulosclerosis (FSGS) in 9 (9.4 percentage) patients while Minimal change disease (MCD) was seen in 5 (5.2 percentage) subjects. Conclusion: Mesangioproliferative glomerulonephritis is the most common histological pattern seen in children presenting with idiopathic SRNS at our centre followed by FSGS and MCD. (author)

  20. Pathophysiology, Evaluation, and Management of Edema in Childhood Nephrotic Syndrome

    Science.gov (United States)

    Ellis, Demetrius

    2016-01-01

    Generalized edema is a major presenting clinical feature of children with nephrotic syndrome (NS) exemplified by such primary conditions as minimal change disease (MCD). In these children with classical NS and marked proteinuria and hypoalbuminemia, the ensuing tendency to hypovolemia triggers compensatory physiological mechanisms, which enhance renal sodium (Na+) and water retention; this is known as the “underfill hypothesis.” Edema can also occur in secondary forms of NS and several other glomerulonephritides, in which the degree of proteinuria and hypoalbuminemia, are variable. In contrast to MCD, in these latter conditions, the predominant mechanism of edema formation is “primary” or “pathophysiological,” Na+ and water retention; this is known as the “overfill hypothesis.” A major clinical challenge in children with these disorders is to distinguish the predominant mechanism of edema formation, identify other potential contributing factors, and prevent the deleterious effects of diuretic regimens in those with unsuspected reduced effective circulatory volume (i.e., underfill). This article reviews the Starling forces that become altered in NS so as to tip the balance of fluid movement in favor of edema formation. An understanding of these pathomechanisms then serves to formulate a more rational approach to prevention, evaluation, and management of such edema. PMID:26793696

  1. Cyclosporine/ketoconazole reduces treatment costs for nephrotic syndrome

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    A Iyengar

    2013-01-01

    Full Text Available Cyclosporine A (CyA is an effective agent for the treatment of glucocorticoid-dependent idiopathic nephrotic syndrome (GCDNS, but costs are prohibitive in resource-poor societies. The objectives of this study were to evaluate the efficacy and safety of reducing the dose of CyA by co-administering ketoconazole. A prospective study targeting children 2-18 years of age with GCDNS in remission with CyA monotherapy was conducted. CyA dose was reduced by 50% and ketoconazole was added at 25% of the recommended therapeutic dose, and the drug levels and therapeutic and adverse effects (AE were monitored. Continued combined therapy after completion of the 4-week trial period was offered. Ten patients (median age 9.5 years, range 3.0-16.0 years were enrolled in the study. At week 4, the CyA dose was 2.2 ± 0.7 mg/kg/day compared with 5.6 ± 0.9 mg/kg/day at enrolment ( P 50% without increased adverse events or drug monitoring needs. This intervention demonstrates how access of patients with limited resources to needed drugs can be improved by interference with physiological drug elimination.

  2. The impact of pediatric nephrotic syndrome on families.

    Science.gov (United States)

    Mitra, Sulagna; Banerjee, Sushmita

    2011-08-01

    The objective of our study was to assess the psychologic and economic effects of pediatric nephrotic syndrome (NS) on caregivers. Caregivers of 50 children with NS were compared with a control group of 50 families of children with minor illnesses attending the same outpatient facility. Beck's Depression Inventory (BDI) IA was used to assess the mental status of the primary caregiver. The socioeconomic status of the family was assessed using the modified Kuppuswamy scale. Expenditure for the illness was calculated during parent interviews. The difference between groups was analyzed using analysis of variance (ANOVA) and Duncan's multiple range test. BDI scores signified moderate to severe depression in 48% of NS caregivers compared with 12% controls. The mean BDI score was significantly higher in NS caregivers, correlating positively with disease severity and negatively with socioeconomic status. Expenditure for disease also was significantly higher in families with NS patients, varying between 30% and 60% of monthly income depending on disease severity compared with 6.9% in controls. In 10% of NS families, it was more than total income, forcing families to break into savings or go into debt. Although pediatric NS most commonly has an excellent long-term outcome, it causes significant mental and economic stress on families. Severe forms should be categorized as a chronic illness and be eligible for disability benefits and subsidized travel and medical care. Establishing support groups and supportive care at local levels would help reduce the burden on families of patients wtih NS.

  3. Hepatitis B viral infection with nephrotic syndrome treated with lamivudine.

    Science.gov (United States)

    Banu, N A; Khatoon, S; Quadir, E; Rahman, M M; Khan, M A

    2007-07-01

    A 04 years old boy with 02 months history of generalized oedema and scanty micturition was diagnosed as nephrotic syndrome with hepatitis B viral infection. He had evidence of active viral replication. After 01 month treatment with oral lamivudine, his urine became protein free and after 04 months, he had seroconversion from HBeAg+ve to HBeAg-ve. Lamivudine was continued for 01 year. He had no relapse after discontinuation of therapy and remained well after 36 months of completion of therapy. He had no evidence of active viral replication during this period, however HBsAg remained positive indication carrier state. As most children with HBV associated nephropathy have no evidence of chronic hepatitis, all such children must undergo HBV screening and for chronic liver disease if HBV screening is positive. As such children do not respond to prednisolone or other immunosuppresive therapy which might harm them, antiviral therapy should be considered. Lamivudine is a suitable alternative to IFN alpha owing to its low cost, ease of administration and fewer side effects.

  4. Pathophysiology, Evaluation, and Management of Edema in Childhood Nephrotic Syndrome.

    Science.gov (United States)

    Ellis, Demetrius

    2015-01-01

    Generalized edema is a major presenting clinical feature of children with nephrotic syndrome (NS) exemplified by such primary conditions as minimal change disease (MCD). In these children with classical NS and marked proteinuria and hypoalbuminemia, the ensuing tendency to hypovolemia triggers compensatory physiological mechanisms, which enhance renal sodium (Na(+)) and water retention; this is known as the "underfill hypothesis." Edema can also occur in secondary forms of NS and several other glomerulonephritides, in which the degree of proteinuria and hypoalbuminemia, are variable. In contrast to MCD, in these latter conditions, the predominant mechanism of edema formation is "primary" or "pathophysiological," Na(+) and water retention; this is known as the "overfill hypothesis." A major clinical challenge in children with these disorders is to distinguish the predominant mechanism of edema formation, identify other potential contributing factors, and prevent the deleterious effects of diuretic regimens in those with unsuspected reduced effective circulatory volume (i.e., underfill). This article reviews the Starling forces that become altered in NS so as to tip the balance of fluid movement in favor of edema formation. An understanding of these pathomechanisms then serves to formulate a more rational approach to prevention, evaluation, and management of such edema.

  5. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    NARCIS (Netherlands)

    Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-Ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

    2017-01-01

    Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS

  6. Prediction of Negative Conversion Days of Childhood Nephrotic Syndrome Based on the Improved Backpropagation Neural Network with Momentum

    Directory of Open Access Journals (Sweden)

    Yi-jun Liu

    2015-12-01

    Full Text Available Childhood nephrotic syndrome is a chronic disease harmful to growth of children. Scientific and accurate prediction of negative conversion days for children with nephrotic syndrome offers potential benefits for treatment of patients and helps achieve better cure effect. In this study, the improved backpropagation neural network with momentum is used for prediction. Momentum speeds up convergence and maintains the generalization performance of the neural network, and therefore overcomes weaknesses of the standard backpropagation algorithm. The three-tier network structure is constructed. Eight indicators including age, lgG, lgA and lgM, etc. are selected for network inputs. The scientific computing software of MATLAB and its neural network tools are used to create model and predict. The training sample of twenty-eight cases is used to train the neural network. The test sample of six typical cases belonging to six different age groups respectively is used to test the predictive model. The low mean absolute error of predictive results is achieved at 0.83. The experimental results of the small-size sample show that the proposed approach is to some degree applicable for the prediction of negative conversion days of childhood nephrotic syndrome.

  7. The clinical value of pulmonary perfusion imaging complicated with pulmonary embolism in children of nephrotic syndrome

    International Nuclear Information System (INIS)

    Lin Jun; Chen Ning; Miao Weibing; Peng Jiequan; Jiang Zhihong; Wu Jing

    2001-01-01

    To investigate the clinical features of complicated with pulmonary embolism nephrotic syndrome in children. 99m Tc-MAA pulmonary perfusion imaging was performed on 30 nephrotic syndrome in children with elevated plasma D-dimer. Results shown that 14 of 30 patients were found to have pulmonary embolism (46.7%). Pulmonary perfusion imaging showed an involvement of 1 pulmonary segment in 3 cases, 2 segments in 2 cases and over 3 segments in other 9 cases. Among them, there were 7 segments involved in one case. After two weeks of heparin anti-coagulative therapy, most cases showed a recovery. The result of this study suggested that pulmonary embolism is a common complication of nephrotic syndrome. Pulmonary perfusion imaging is simple, effective and accurate method for the diagnosis of pulmonary embolism, and it also can help to assess the value of clinical therapy

  8. Nephrotic Syndrome and Idiopathic Membranous Nephropathy Associated with Autosomal-Dominant Polycystic Kidney Disease

    Science.gov (United States)

    Peces, Ramón; Martínez-Ara, Jorge; Peces, Carlos; Picazo, Mariluz; Cuesta-López, Emilio; Vega, Cristina; Azorín, Sebastián; Selgas, Rafael

    2011-01-01

    We report the case of a 38-year-old male with autosomal-dominant polycystic kidney disease (ADPKD) and concomitant nephrotic syndrome secondary to membranous nephropathy (MN). A 3-month course of prednisone 60 mg daily and losartan 100 mg daily resulted in resistance. Treatment with chlorambucil 0.2 mg/kg daily, low-dose prednisone, plus an angiotensin-converting enzyme inhibitor (ACEI) and an angiotensin II receptor blocker (ARB) for 6 weeks resulted in partial remission of his nephrotic syndrome for a duration of 10 months. After relapse of the nephrotic syndrome, a 13-month course of mycophenolate mofetil (MFM) 2 g daily and low-dose prednisone produced complete remission for 44 months. After a new relapse, a second 24-month course of MFM and low-dose prednisone produced partial to complete remission of proteinuria with preservation of renal function. Thirty-six months after MFM withdrawal, complete remission of nephrotic-range proteinuria was maintained and renal function was preserved. This case supports the idea that renal biopsy is needed for ADPKD patients with nephrotic-range proteinuria in order to exclude coexisting glomerular disease and for appropriate treatment/prevention of renal function deterioration. To the best of our knowledge, this is the first reported case of nephrotic syndrome due to MN in a patient with ADPKD treated with MFM, with remission of proteinuria and preservation of renal function after more than 10 years. Findings in this patient also suggest that MFM might reduce cystic cell proliferation and fibrosis, preventing progressive renal scarring with preservation of renal function. PMID:21552769

  9. Nephrotic Syndrome and Idiopathic Membranous Nephropathy Associated with Autosomal-Dominant Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Ramón Peces

    2011-01-01

    Full Text Available We report the case of a 38-year-old male with autosomal-dominant polycystic kidney disease (ADPKD and concomitant nephrotic syndrome secondary to membranous nephropathy (MN. A 3-month course of prednisone 60 mg daily and losartan 100 mg daily resulted in resistance. Treatment with chlorambucil 0.2 mg/kg daily, low-dose prednisone, plus an angiotensin-converting enzyme inhibitor (ACEI and an angiotensin II receptor blocker (ARB for 6 weeks resulted in partial remission of his nephrotic syndrome for a duration of 10 months. After relapse of the nephrotic syndrome, a 13-month course of mycophenolate mofetil (MFM 2 g daily and low-dose prednisone produced complete remission for 44 months. After a new relapse, a second 24-month course of MFM and low-dose prednisone produced partial to complete remission of proteinuria with preservation of renal function. Thirty-six months after MFM withdrawal, complete remission of nephrotic-range proteinuria was maintained and renal function was preserved. This case supports the idea that renal biopsy is needed for ADPKD patients with nephrotic-range proteinuria in order to exclude coexisting glomerular disease and for appropriate treatment/prevention of renal function deterioration. To the best of our knowledge, this is the first reported case of nephrotic syndrome due to MN in a patient with ADPKD treated with MFM, with remission of proteinuria and preservation of renal function after more than 10 years. Findings in this patient also suggest that MFM might reduce cystic cell proliferation and fibrosis, preventing progressive renal scarring with preservation of renal function.

  10. Simplified quantification of urinary protein excretion in children with nephrotic syndrome

    International Nuclear Information System (INIS)

    Mustafa, G.; Khan, P.A.; Hussain, Z.; Iqbal, M.

    2007-01-01

    To assess the value of single voided random (spot) urinary protein to creatinine ratio in accurately predicting the 24-hour urinary protein excretion in Pakistani pediatric population with nephrotic syndrome. Fifty seven children between 1-18 years with nephrotic syndrome were included. Seventy pairs of spot urine (5 milliliter) and 24-hour urine were collected in different phases of their disease e.g. initial, induction and remission. The protein to creatinine ratio was determined in spot urine samples and total protein content in 24-hour urine samples. The correlation between the ratio and 24-hour urinary protein excreted was determined using Pearson's coefficient (r) linear regression analysis. The protein to creatinine ratio in a spot urine sample was significantly correlated with the 24-hour urinary protein. The correlation coefficient (least square method) was found to be significant (r=0.9444). A random (spot) urinary protein to creatinine ratio of greater than 2 correlated well with the massive proteinuria (i.e. nephrotic syndrome), between 2 to 0.2 indicated glomerulopathy while a ratio of less than 0.2 was suggestive of physiological values. The random spot urinary protein to creatinine ratio can reliably be used to assess the degree of proteinuria in children with nephrotic syndrome and can replace the 24-hour urinary protein excretion/collection. (author)

  11. Circulating angiopoietin-like 4 links proteinuria with hypertriglyceridemia in nephrotic syndrome

    NARCIS (Netherlands)

    Clement, L.C.; Mace, C.; Avila-Casado, C.; Joles, J.A.; Kersten, A.H.; Chugh, S.S.

    2014-01-01

    The molecular link between proteinuria and hyperlipidemia in nephrotic syndrome is not known. We show in the present study that plasma angiopoietin-like 4 (Angptl4) links proteinuria with hypertriglyceridemia through two negative feedback loops. In previous studies in a rat model that mimics human

  12. Pattern of steroid-resistant nephrotic syndrome in children and the ...

    African Journals Online (AJOL)

    Steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatric nephrologists. e underlying histopathology usually affects the course of the disease and the response to treatment.[1] ere is still controversy over the role of renal biopsy in the management of children with. SRNS.[2] Studies by the International ...

  13. Pattern of steroid-resistant nephrotic syndrome in children and the ...

    African Journals Online (AJOL)

    Background. Steroid-resistant nephrotic syndrome (SRNS) is a common problem in paediatric nephrology practice. There is currently little information on the spectrum of histopathological lesions in children presenting with SRNS in India and other south-east Asian countries. Objective. To determine the histopathological ...

  14. Role of the immune system in the pathogenesis of idiopathic nephrotic syndrome

    NARCIS (Netherlands)

    van den Berg, José G.; Weening, Jan J.

    2004-01-01

    Idiopathic NS (nephrotic syndrome) is characterized by massive proteinuria, due to a leak in the glomerular barrier to proteins. Genetic defects that affect the function and the composition of the glomerular capillary wall, in particular of the visceral epithelial cells, have recently been

  15. Extending prednisolone treatment does not reduce relapses in childhood nephrotic syndrome

    NARCIS (Netherlands)

    Teeninga, N.; Kist-van Holthe, J.E.; Rijswijk, N. van; Mos, N.I. de; Hop, W.C.J.; Wetzels, J.F.M.; Heijden, A.J. van der; Nauta, J.

    2013-01-01

    Prolonged prednisolone treatment for the initial episode of childhood nephrotic syndrome may reduce relapse rate, but whether this results from the increased duration of treatment or a higher cumulative dose remains unclear. We conducted a randomized, double-blind, placebo-controlled trial in 69

  16. Population pharmacokinetics of levamisole in children with steroid-sensitive nephrotic syndrome

    NARCIS (Netherlands)

    Kreeftmeijer-Vegter, A.R.; Dorlo, T.P.C.; Gruppen, M.P.; De Boer, A.; De Vries, P.J.

    2015-01-01

    Aim The aim was to investigate the population pharmacokinetics of levamisole in children with steroid-sensitive nephrotic syndrome. Methods Non-linear mixed effects modelling was performed on samples collected during a randomized controlled trial. Samples were collected from children who were

  17. Population pharmacokinetics of levamisole in children with steroid-sensitive nephrotic syndrome

    NARCIS (Netherlands)

    Kreeftmeijer-Vegter, A. R.; Dorlo, T. P. C.; Gruppen, M. P.; de Boer, A. [=Anthonius; de Vries, P. J.

    2015-01-01

    The aim was to investigate the population pharmacokinetics of levamisole in children with steroid-sensitive nephrotic syndrome. Non-linear mixed effects modelling was performed on samples collected during a randomized controlled trial. Samples were collected from children who were receiving 2.5 mg

  18. Nivolumab-associated Nephrotic Syndrome in a Patient With Renal Cell Carcinoma: A Case Report

    NARCIS (Netherlands)

    Daanen, R.A.; Maas, R.J.H.; Koornstra, R.H.; Steenbergen, E.J.; Herpen, C.M.L. van; Willemsen, A.E.C.A.B.

    2017-01-01

    INTRODUCTION: Immune checkpoint inhibitors have taken an important place in the treatment of different types of malignancies. These drugs are known to have specific immune-mediated adverse events. We describe a case of severe nephrotic syndrome secondary to treatment with nivolumab in a patient with

  19. Calcium and Vitamin D Metabolism in Pediatric Nephrotic Syndrome; An Update on the Existing Literature

    Directory of Open Access Journals (Sweden)

    Mohammad Esmaeeili

    2015-03-01

    Full Text Available  Minimal Change Disease (MCD is the leading cause of childhood Nephrotic Syndrome (NS. Therefore in pediatrics nephrotic syndrome, most children beyond the first year of life will be treated with corticosteroids without an initial biopsy. Children with NS often display a number of calcium homeostasis disturbances causing abnormal bone histology, including hypocalcemia, reduced serum vitamin D metabolites, impaired intestinal absorption of calcium, and elevated levels of immunoreactive parathyroid hormone (iPTH. These are mainly attributed to the loss of a variety of plasma proteins and minerals in the urine as well as steroid therapy. Early diagnosis and management of these abnormalities, could prevent the growth retardation and renal osteodystrophy that affects children with nephrotic syndrome. Here we reviewed the literature for changes of calcium and vitamin D metabolism in nephrotic syndrome and its consequences on bones, also the effect of corticosteroid and possible preventive strategies that could be done to avoid long term outcomes in children. Although the exact biochemical basis for Changes in levels of calcium and vitamin D metabolites in patients with NS remains speculative; Because of the potential adverse effects of these changes among growing children, widespread screening for vitamin D deficiency or routine vitamin D supplementation should be considered.

  20. Variability of diagnostic criteria and treatment of idiopathic nephrotic syndrome across European countries

    NARCIS (Netherlands)

    Deschênes, Georges; Vivarelli, Marina; Peruzzi, Licia; Alpay, H.; Alvaro Madrid, A.; Andersen, R.; Bald, M.; Benetti, E.; Berard, E.; Bockenhauer, D.; Boyer, O.; Brackman, D.; Dossier, C.; Ekinci, Z.; Emma, F.; Enneman, B.; Espinosa-Roman, L.; Fila, M.; Ghio, L.; Groothoff, J. W.; Guigonis, V.; Jankauskiene, A.; Kagan, M.; Kovacevic, M.; Kemper, M. J.; Levtchenko, E.; Maringhini, S.; Mir, S.; Mitsioni, A.; Mizerska-Wasiak, M.; Wasiak, K.; Moczulska, A.; Montini, G.; Murer, L.; Nuutinen, M.; Obukhova, V.; Oh, J.; Ozkaya, O.; Papalia, T.; Peco Antic, A.; Pecoraro, C.; Pena-Carrion, A.; Petrossian, E.; Pietrement, C.; Prikhodina, L.; Querfeld, U.; Rittig, S.; Saleem, M. A.; Saraga, M.; Savenkova, N.

    2017-01-01

    The aim of the surveys conducted by the Idiopathic Nephrotic Syndrome Working Group of the ESPN was to study the possible variability of treatment in Europe at different stages of the disease by means of questionnaires sent to members of the Working Group. Four surveys have been completed: treatment

  1. Familial Mediterranean fever, Inflammation and Nephrotic Syndrome: Fibrillary Glomerulopathy and the M680I Missense Mutation

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    Semerdjian Ronald J

    2003-08-01

    Full Text Available Abstract Background Familial Mediterranean fever (FMF is an autosomal recessive disease characterized by inflammatory serositis (fever, peritonitis, synovitis and pleuritis. The gene locus responsible for FMF was identified in 1992 and localized to the short arm of chromosome 16. In 1997, a specific FMF gene locus, MEFV, was discovered to encode for a protein, pyrin that mediates inflammation. To date, more than forty missense mutations are known to exist. The diversity of mutations identified has provided insight into the variability of clinical presentation and disease progression. Case Report We report an individual heterozygous for the M680I gene mutation with a clinical diagnosis of FMF using the Tel-Hashomer criteria. Subsequently, the patient developed nephrotic syndrome with biopsy-confirmed fibrillary glomerulonephritis (FGN. Further diagnostic studies were unremarkable with clinical workup negative for amyloidosis or other secondary causes of nephrotic syndrome. Discussion Individuals with FMF are at greater risk for developing nephrotic syndrome. The most serious etiology is amyloidosis (AA variant with renal involvement, ultimately progressing to end-stage renal disease. Other known renal diseases in the FMF population include IgA nephropathy, IgM nephropathy, Henoch-Schönlein purpura as well as polyarteritis nodosa. Conclusion To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis.

  2. Randomized Clinical Trial Design to Assess Abatacept in Resistant Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Howard Trachtman

    2018-01-01

    Conclusion: This study advances efforts to validate CD80 as a therapeutic target for treatment-resistant nephrotic syndrome, and implements a precision medicine-based approach to this serious kidney condition in which the selection of a therapeutic agent is guided by the underlying disease mechanism operating in individual patients.

  3. Levamisole in steroid-sensitive nephrotic syndrome of childhood: the lost paradise?

    NARCIS (Netherlands)

    Davin, J. C.; Merkus, M. P.

    2005-01-01

    Among the different drugs used for sparing steroids in steroid-sensitive nephrotic syndrome (SSNS) with frequent relapses and steroid dependency, levamisole is the least toxic and the least expensive. However, it is neither approved for this indication nor widely used in Europe. This may be

  4. Risk factors for low bone density in pediatric nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Corina Lisa

    2011-04-01

    Full Text Available Background Disturbances in bone mineral metabolism and side effects of corticosteroid treatment may cause decreased bone density in patients v.ith nephrotic syndrome (NS. Objectives To compare the prevalence oflow bone mineral density (BMD in children with and 'Without NS and to assess the effect of corticosteroid treatment on bone density in NS patients.  Methods We conducted a retrospective, cohort study in children aged 5-18 years diagnosed 'With NS for more than 2 months prior to data collection, and in children v.ithout NS as a control. BMD was assessed on calcaneal bone wlith ultrasound bone densitometry. Serum calcium, albumin, creatinine and phosphate levels were also assessed. Results The prevalence of low BMD was significantly higher in NS patients than nonNS subjects, 73.3% (22 in 30 vs. 33% (11 in 33, respectively. The prevalence ratio was 6.3 (95% CI 2.1 to 18.9. NS patients had lower serum calcium levels, With mean difference of -0.17 (95% CI -0.27 to -0.07 mMollL, P<0.009, and lower serum albumin, with mean difference of  -0.88 (95% CI -1.27 to -0.49 gIL; P

  5. Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.

    Science.gov (United States)

    Hermle, Tobias; Braun, Daniela A; Helmstädter, Martin; Huber, Tobias B; Hildebrandt, Friedhelm

    2017-05-01

    Steroid-resistant nephrotic syndrome is characterized by podocyte dysfunction. Drosophila garland cell nephrocytes are podocyte-like cells and thus provide a potential in vivo model in which to study the pathogenesis of nephrotic syndrome. However, relevant pathomechanisms of nephrotic syndrome have not been studied in nephrocytes. Here, we discovered that two Drosophila slit diaphragm proteins, orthologs of the human genes encoding nephrin and nephrin-like protein 1, colocalize within a fingerprint-like staining pattern that correlates with ultrastructural morphology. Using RNAi and conditional CRISPR/Cas9 in nephrocytes, we found this pattern depends on the expression of both orthologs. Tracer endocytosis by nephrocytes required Cubilin and reflected size selectivity analogous to that of glomerular function. Using RNAi and tracer endocytosis as a functional read-out, we screened Drosophila orthologs of human monogenic causes of nephrotic syndrome and observed conservation of the central pathogenetic alterations. We focused on the coenzyme Q 10 (CoQ 10 ) biosynthesis gene Coq2 , the silencing of which disrupted slit diaphragm morphology. Restoration of CoQ 10 synthesis by vanillic acid partially rescued the phenotypic and functional alterations induced by Coq2 -RNAi. Notably, Coq2 colocalized with mitochondria, and Coq2 silencing increased the formation of reactive oxygen species (ROS). Silencing of ND75 , a subunit of the mitochondrial respiratory chain that controls ROS formation independently of CoQ 10 , phenocopied the effect of Coq2 -RNAi. Moreover, the ROS scavenger glutathione partially rescued the effects of Coq2 -RNAi. In conclusion, Drosophila garland cell nephrocytes provide a model with which to study the pathogenesis of nephrotic syndrome, and ROS formation may be a pathomechanism of COQ2 -nephropathy. Copyright © 2017 by the American Society of Nephrology.

  6. Corticosteroids and obesity in steroid-sensitive and steroid-resistant nephrotic syndrome

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    Nina Lestari

    2015-07-01

    Full Text Available Background Children with nephrotic syndrome need high-dose corticosteroids to achieve remission. Studies have estimated a 35-43% risk of obesity in these patients after corticosteroid treatment. Objective To determine the prevalence of obesity in children who received corticosteroids for nephrotic syndrome, and to compare the risk of obesity in children with steroid-sensitive nephrotic syndrome (SSNS and steroid-resistant nephrotic syndrome (SRNS. Methods We performed a retrospective cohort study in 50 children with SSNS or SRNS who received corticosteroid treatment. Obesity was defined to be a BMI-for-age Z-score above +2.0 SD, according to the WHO Growth Reference 2007. Central obesity was defined to be a waist-to-height ratio > 0.50. Results The overall prevalence of obesity was 22%, with 29% and 14% in the SSNS and SRNS groups, respectively. The overall prevalence of central obesity was 50%, with 54% and 46% in the SSNS and SRNS groups, respectively. The cumulative steroid doses in this study were not significantly different between the SSNS and SRNS groups. There were also no significant differences between groups for risk of obesity (RR 2.53; 95%CI 0.58 to 10.99 or central obesity (RR 1.39; 95%CI 0.45 to 4.25. Conclusion In children with nephrotic syndrome who received corticosteroids, the prevalence of obesity is 22% and of central obesity is 50%. In a comparison of SSNS and SRNS groups, cumulative steroid dose as well as risks of obesity and central obesity do not significantly differ between groups.

  7. A Pilot Study of IL2 in Drug-Resistant Idiopathic Nephrotic Syndrome.

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    Alice Bonanni

    Full Text Available Tregs infusion reverts proteinuria and reduces renal lesions in most animal models of nephrotic syndrome (i.e. Buffalo/Mna, Adriamycin, Promycin, LPS. IL2 up-regulates Tregs and may be an alternative to cell-therapy in this setting. To evaluate a potential role of IL2 as Tregs inducer and proteinuria lowering agent in human nephrotic syndrome we treated 5 nephrotic patients with 6 monthly cycles of low-dose IL2 (1x106 U/m2 first month, 1.5x106 U/m2 following months. The study cohort consisted of 5 children (all boys, 11–17 years resistant to all the available treatments (i.e. steroids, calcineurin inhibitors, mycophenolate, Rituximab. Participants had Focal Segmental Glomerulosclerosis (3 cases or Minimal Change Nephropathy (2 cases. IL2 was safe in all but one patient who had an acute asthma attack after the first IL2 dose and did not receive further doses. Circulating Tregs were stably increased (>10% during the whole study period in 2 cases while were only partially modified in the other two children who started with very low levels and partially responded to single IL2 Proteinuria and renal function were not modified by IL2 at any phase of the study. We concluded that low-dose IL2 given in monthly pulses is safe and modifies the levels of circulating Tregs. This drug may not be able to lower proteinuria or affect renal function in children with idiopathic nephrotic syndrome. We were unable to reproduce in humans the effects of IL2 described in rats and mice reducing de facto the interest on this drug in nephrotic syndrome.ClinicalTrials.gov NCT02455908.

  8. Experience with second line drugs in frequently relapsing and steroid dependent childhood nephrotic syndrome in a large Saudi center

    Directory of Open Access Journals (Sweden)

    Khalid Alsaran, M.D.

    2017-06-01

    Conclusion: All the second line drugs in our study were equally effective. However, we recommend that the initial treatment of FR/SD nephrotic syndrome should be chosen with the least toxic yet equally efficacious drug Levamisole.

  9. Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Gianluigi Ardissino

    2017-01-01

    Full Text Available Hemolytic uremic syndrome (HUS is an unrare and severe thrombotic microangiopathy (TMA caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age.

  10. Up-regulation of hepatic Acyl CoA: Diacylglycerol acyltransferase-1 (DGAT-1) expression in nephrotic syndrome.

    Science.gov (United States)

    Vaziri, Nosratola D; Kim, Choong H; Phan, Dennis; Kim, Sara; Liang, Kaihui

    2004-07-01

    Nephrotic syndrome is associated with hypercholesterolemia, hypertriglyceridemia, and marked elevations of plasma low-density lipoprotein (LDL) and very low-density lipoprotein (VLDL). Hypertriglyceridemia in nephrotic syndrome is accompanied by increased hepatic fatty acid synthesis, elevated triglyceride secretion, as well as lipoprotein lipase, VLDL-receptor, and hepatic triglyceride lipase deficiencies, which lead to impaired clearance of triglyceride-rich lipoproteins. Acyl CoA: diacylglycerol acyltransferase (DGAT) is a microsomal enzyme that joins acyl CoA to 1, 2-diacylglycerol to form triglyceride. Two distinct DGATs (DGAT-1 and DGAT2) have recently been identified in the liver and other tissues. The present study tested the hypothesis that the reported increase in hepatic triglyceride secretion in nephrotic syndrome may be caused by up-regulation of DGAT. Male Sprague-Dawley rats were rendered nephrotic by two sequential injections of puromycin aminonucleoside (130 mg/kg on day 1 and 60 mg/kg on day 14) and studied on day 30. Placebo-treated rats served as controls. Hepatic DGAT-1 and DGAT-2 mRNA abundance and enzymatic activity were measured. The nephrotic group exhibited heavy proteinuria, hypoalbuminemia, hypercholesterolemia, hypertriglyceridemia, and marked elevation of VLDL concentration. Hepatic DGAT-1 mRNA, DGAT-1, and total DGAT activity were significantly increased, whereas DGAT-2 mRNA abundance and activity were unchanged in the nephrotic rats compared to the control animals. The functional significance of elevation of DGAT activity was illustrated by the reduction in microsomal free fatty acid concentration in the liver of nephrotic animals. Nephrotic syndrome results in up-regulation of hepatic DGAT-1 expression and activity, which can potentially contribute to the associated hypertriglyceridemia by enhancing triglyceride synthesis. Thus, it appears that both depressed catabolism and increased synthetic capacity contribute to

  11. A RETROSPECTIVE STUDY ON CLINICAL PRESENTATION OF STEROID SENSITIVE NEPHROTIC SYNDROME

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    Sosamma M. M

    2016-09-01

    Full Text Available BACKGROUND Nephrotic syndrome is a disease affecting the renal system. Most paediatricians will invariably encounter children with nephrotic syndrome in their clinic. The disease is characterised by the presence of oedema, persistent heavy proteinuria, hypoproteinaemia and hypercholesterolaemia. The disease is influenced by factors like age, geography, race and also has certain genetic influence related to HLA (DR7, B12, B8. In children, minimal change nephrotic syndrome is the most common variant of primary nephrotic syndrome. It accounts to more than eighty per cent of the cases seen children under seven years whereas it has a chance of fifty per cent in the age group of seven to sixteen years. Males are affected two times higher compared to females. The parents usually bring the child to the hospital with signs of oedema. Usually, the child recovers with treatment, but in some cases, there can be relapse. MATERIALS AND METHODS  The study was conducted in the Department of Paediatrics, Travancore Medical College, Kollam.  The study was done from January 2015 to January 2016.  Sixty cases were identified and were chosen for the study. INCLUSION CRITERIA 1. Steroid sensitive cases of nephrotic syndrome. 2. Age less than twelve years. 3. Admitted cases. EXCLUSION CRITERIA 1. Steroid-resistant and steroid-dependent cases. 2. Age more than twelve years. 3. Outpatient cases. RESULTS Out of the sixty cases studied, forty one cases belonged to male sex and nineteen cases belonged to female sex. Based on the age group, maximum number of cases belonged to age group four to eight years, which amounted to thirty four cases followed by age group eight to twelve years, which amounted to eighteen cases. Age group zero to four years had the least number of cases, which amounted to eight in number. Based on clinical signs and symptoms, fifty five cases presented with oedema either periorbital, scrotal or pedal oedema. Ten cases presented with fever

  12. Kinetics of Rituximab Excretion into Urine and Peritoneal Fluid in Two Patients with Nephrotic Syndrome

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    Klaus Stahl

    2017-01-01

    Full Text Available Clinical observations suggest that treatment of Rituximab might be less effective in patients with nephrotic range proteinuria when compared to nonnephrotic patients. It is conceivable that the reason for this is that significant amounts of Rituximab might be lost in the urine in a nephrotic patient and that these patients require a repeated or higher dosage. However, this has not been systematically studied. In this case report we describe two different patients with nephrotic range proteinuria receiving Rituximab. The first patient received Rituximab for therapy resistant cryoglobulinemic membranoproliferative glomerulonephritis and the other for second line treatment of Felty’s syndrome. We employed flow cytometry to determine the amount of Rituximab excretion in both urine and peritoneal fluid specimens in these patients following administration of Rituximab. We found that a significant amount of Rituximab is lost from the circulation by excretion into the urine. Furthermore we saw a close correlation of the excretion of Rituximab to the excretion of IgG molecules suggesting selectivity of proteinuria as the determining factor of Rituximab excretion. Further larger scale clinical studies could have the potential to evaluate an optimal cut-off value of IgG urinary loss before a possible administration of Rituximab therefore contributing to a more individualized treatment approach in patients with nonselective and nephrotic range proteinuria.

  13. Kinetics of Rituximab Excretion into Urine and Peritoneal Fluid in Two Patients with Nephrotic Syndrome.

    Science.gov (United States)

    Stahl, Klaus; Duong, Michelle; Schwarz, Anke; Wagner, A D; Haller, Hermann; Schiffer, Mario; Jacobs, Roland

    2017-01-01

    Clinical observations suggest that treatment of Rituximab might be less effective in patients with nephrotic range proteinuria when compared to nonnephrotic patients. It is conceivable that the reason for this is that significant amounts of Rituximab might be lost in the urine in a nephrotic patient and that these patients require a repeated or higher dosage. However, this has not been systematically studied. In this case report we describe two different patients with nephrotic range proteinuria receiving Rituximab. The first patient received Rituximab for therapy resistant cryoglobulinemic membranoproliferative glomerulonephritis and the other for second line treatment of Felty's syndrome. We employed flow cytometry to determine the amount of Rituximab excretion in both urine and peritoneal fluid specimens in these patients following administration of Rituximab. We found that a significant amount of Rituximab is lost from the circulation by excretion into the urine. Furthermore we saw a close correlation of the excretion of Rituximab to the excretion of IgG molecules suggesting selectivity of proteinuria as the determining factor of Rituximab excretion. Further larger scale clinical studies could have the potential to evaluate an optimal cut-off value of IgG urinary loss before a possible administration of Rituximab therefore contributing to a more individualized treatment approach in patients with nonselective and nephrotic range proteinuria.

  14. Anakinra induces complete remission of nephrotic syndrome in a patient with familial mediterranean fever and amyloidosis.

    Science.gov (United States)

    Sevillano, Ángel M; Hernandez, Eduardo; Gonzalez, Esther; Mateo, Isabel; Gutierrez, Eduardo; Morales, Enrique; Praga, Manuel

    2016-01-01

    Renal amyloidosis is one of the most severe complications of familial Mediterranean fever (FMF). Colchicine has reduced the incidence of this complication, which now only appears in untreated, under-treated and resistant patients, but it is usually ineffective in patients with advanced amyloidosis. Here we report a patient with FMF and biopsy-proven amyloidosis who presented with nephrotic syndrome despite colchicine treatment. Anakinra (an interleukin-1β inhibitor) was started and a dramatic complete remission of nephrotic syndrome was observed in the following months. Anakinra can be an effective treatment for FMF patients with severe secondary amyloidosis. Copyright © 2015 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.

  15. Mesangioproliferative glomerulonephritis in a patient with Kimura′s disease presenting as Nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Surendra Singh Rathore

    2015-01-01

    Full Text Available Kimura′s disease is a rare chronic eosinophilic inflammatory disorder of unknown etiology. Majority of cases have been reported from South East Asia, while sporadic occurrences have been reported worldwide, including the Indian subcontinent. Nephrotic syndrome may be the presenting manifestation of Kimura′s disease, and a variety of renal lesions are observed histologically in such patients. We herein describe a case of steroid-responsive mesangioproliferative glomerulonephritis related to kimura′s disease.

  16. Mycophenolic Acid Pharmacokinetics and Relapse in Children with Steroid–Dependent Idiopathic Nephrotic Syndrome

    Science.gov (United States)

    Tellier, Stéphanie; Dallocchio, Aymeric; Guigonis, Vincent; Saint-Marcoux, Frank; Llanas, Brigitte; Ichay, Lydia; Bandin, Flavio; Godron, Astrid; Morin, Denis; Brochard, Karine; Gandia, Peggy; Bouchet, Stéphane; Marquet, Pierre; Decramer, Stéphane

    2016-01-01

    Background and objectives Therapeutic drug monitoring of mycophenolic acid can improve clinical outcome in organ transplantation and lupus, but data are scarce in idiopathic nephrotic syndrome. The aim of our study was to investigate whether mycophenolic acid pharmacokinetics are associated with disease control in children receiving mycophenolate mofetil for the treatment of steroid–dependent nephrotic syndrome. Design, setting, participants, & measurements This was a retrospective multicenter study including 95 children with steroid–dependent nephrotic syndrome treated with mycophenolate mofetil with or without steroids. Area under the concentration-time curve of mycophenolic acid was determined in all children on the basis of sampling times at 20, 60, and 180 minutes postdose, using Bayesian estimation. The association between a threshold value of the area under the concentration-time curve of mycophenolic acid and the relapse rate was assessed using a negative binomial model. Results In total, 140 areas under the concentration-time curve of mycophenolic acid were analyzed. The findings indicate individual dose adaptation in 53 patients (38%) to achieve an area under the concentration-time curve target of 30–60 mg·h/L. In a multivariable negative binomial model including sex, age at disease onset, time to start of mycophenolate mofetil, previous immunomodulatory treatment, and concomitant prednisone dose, a level of area under the concentration-time curve of mycophenolic acid >45 mg·h/L was significantly associated with a lower relapse rate (rate ratio, 0.65; 95% confidence interval, 0.46 to 0.89; P=0.01). Conclusions Therapeutic drug monitoring leading to individualized dosing may improve the efficacy of mycophenolate mofetil in steroid–dependent nephrotic syndrome. Additional prospective studies are warranted to determine the optimal target for area under the concentration-time curve of mycophenolic acid in this population. PMID:27445161

  17. Daily corticosteroids reduce infection-associated relapses in frequently relapsing nephrotic syndrome: a randomized controlled trial.

    Science.gov (United States)

    Gulati, Ashima; Sinha, Aditi; Sreenivas, Vishnubhatla; Math, Aparna; Hari, Pankaj; Bagga, Arvind

    2011-01-01

    Relapses of nephrotic syndrome often follow minor infections, commonly of the upper respiratory tract. Daily administration of maintenance prednisolone during intercurrent infections was examined to determine whether the treatment reduces relapse rates in children with frequently relapsing nephrotic syndrome. In a randomized controlled trial (nonblind, parallel group, tertiary-care hospital), 100 patients with idiopathic, frequently relapsing nephrotic syndrome eligible for therapy with prolonged low-dose, alternate-day prednisolone with or without levamisole were randomized to either receive their usual dose of alternate-day prednisolone daily for 7 days during intercurrent infections (intervention group) or continue alternate-day prednisolone (controls). Primary outcome was assessed by comparing the rates of infection-associated relapses at 12-month follow-up. Secondary outcomes were the frequency of infections and the cumulative amount of prednisolone received in both groups. Patients in the intervention group showed significantly lower infection-associated (rate difference, 0.7 episodes/patient per year; 95% confidence intervals [CI] 0.3, 1.1) and lower total relapse rates (0.9 episodes/patient per year, 95% CI 0.4, 1.4) without increase in steroid toxicity. Poisson regression, adjusted for occurrence of infections, showed that daily administration of prednisolone during infections independently resulted in 59% reduction in frequency of relapses (rate ratio, 0.41; 95% CI 0.3, 0.6). For every six patients receiving this intervention, one showed a reduction of relapse frequency to less than three per year. Daily administration of maintenance doses of prednisolone, during intercurrent infections, significantly reduces relapse rates and the proportion of children with frequently relapsing nephrotic syndrome.

  18. Management of steroid resistant nephrotic syndrome in children with cyclosporine - a tertiary care centre experience

    International Nuclear Information System (INIS)

    Shah, S.S.H.; Akhtar, N.; Sunbleen, F.

    2015-01-01

    Objective: To observe the response and adverse effects of cyclosporine in combination with oral steroids for management of idiopathic steroid resistant nephrotic syndrome in pediatric patients. Methodology: It was an observational study conducted at Children Hospital, Lahore, Pakistan from March 2014 to June 2015. Forty normotensive patients of idiopathic steroid resistant nephrotic syndrome between one and twelve years of age with normal renal function were included in the study. Patients were prescribed cyclosporine with prednisolone and were followed to see the response and adverse effects of drugs. Results: Out of 40 patients, 20(50%) were males and 20(50%) females. Mesangioproliferative glomerulonephritis was found in 27(67.5%) patients followed by Focal segmental glomerulosclerosis in 9(22.5%) patients. Complete response was observed in 32(80%) children while partial response in 8(20%) patients at the end of six months. The most common adverse effects were cushingoid features seen in 26(65%) and cyclosporine related hypertrichosis in 34(85%). Conclusion: Management of idiopathic steroid resistant nephrotic syndrome in children with a combination of cyclosporine and prednisolone provided good results as response to treatment was seen in 80% patients. (author)

  19. Neuromyelitis optica accompanied by nephrotic syndrome and autoimmune-related pancytopenia.

    Science.gov (United States)

    ZhangBao, Jingzi; Zhou, Lei; Lu, Jiahong; Xi, Jianying; Zhao, Chongbo; Quan, Chao

    2016-05-01

    Neuromyelitis optica (NMO) associated with nephrotic syndrome and autoimmune-related pancytopenia has not been reported previously. We report herein a young woman who initially presented with bilateral blurring of vision and numbness in her hands. MRI disclosed multiple white matter lesions and a long cervical spinal cord lesion extending to the medulla oblongata. Serum aquaporin-4 antibody was positive and the patient was diagnosed with NMO. While in the hospital, she presented with hypoproteinemia and heavy proteinuria, meeting the diagnostic criteria of nephrotic syndrome. After high-dose methylprednisolone treatment, her vision improved significantly and urine protein quantity decreased. However, the patient subsequently developed severe pancytopenia with a positive Coombs' test. Thrombocytopenia finally led to uncontrollable gastrointestinal bleeding as the direct cause of the patient's death. This case illustrates the extremely rare condition of concurrence of NMO, nephrotic syndrome, and autoimmune pancytopenia in one patient, which suggests the involvement of organs beyond the central nervous system in NMO spectrum disorders. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Management of Diabetes Associated with Nephrotic Syndrome: Therapeutic Potential of Dapagliflozin for Protracted Volume Retention

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    Toshimi Imai

    2015-01-01

    Full Text Available A 48-year-old female was admitted to our hospital presenting with a chief complaint of progressive swelling because of diabetic nephrotic syndrome. Dapagliflozin seemed to play a role in accelerating the patient's urinary sodium excretion as well as reducing gross fluid retention despite the fact that her nephrotic condition was resistant to furosemide. Our experience emphasizes a potential novel approach to overcoming loop diuretic resistance using this agent among some subsets of type 2 diabetic subjects complicated with severe volume accumulation. We believe that combination treatment consisting of dapagliflozin and furosemide may produce diuretic synergy via sequential nephron blockade. The accumulation of more experience with additional cases similar to ours requires continuous and careful attention.

  1. Rituximab for childhood-onset, complicated, frequently relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicentre, double-blind, randomised, placebo-controlled trial.

    Science.gov (United States)

    Iijima, Kazumoto; Sako, Mayumi; Nozu, Kandai; Mori, Rintaro; Tuchida, Nao; Kamei, Koichi; Miura, Kenichiro; Aya, Kunihiko; Nakanishi, Koichi; Ohtomo, Yoshiyuki; Takahashi, Shori; Tanaka, Ryojiro; Kaito, Hiroshi; Nakamura, Hidefumi; Ishikura, Kenji; Ito, Shuichi; Ohashi, Yasuo

    2014-10-04

    Rituximab could be an effective treatment for childhood-onset, complicated, frequently relapsing nephrotic syndrome (FRNS) and steroid-dependent nephrotic syndrome (SDNS). We investigated the efficacy and safety of rituximab in patients with high disease activity. We did a multicentre, double-blind, randomised, placebo-controlled trial at nine centres in Japan. We screened patients aged 2 years or older experiencing a relapse of FRNS or SDNS, which had originally been diagnosed as nephrotic syndrome when aged 1-18 years. Patients with complicated FRNS or SDNS who met all other criteria were eligible for inclusion after remission of the relapse at screening. We used a computer-generated sequence to randomly assign patients (1:1) to receive rituximab (375 mg/m(2)) or placebo once weekly for 4 weeks, with age, institution, treatment history, and the intervals between the previous three relapses as adjustment factors. Patients, guardians, caregivers, physicians, and individuals assessing outcomes were masked to assignments. All patients received standard steroid treatment for the relapse at screening and stopped taking immunosuppressive agents by 169 days after randomisation. Patients were followed up for 1 year. The primary endpoint was the relapse-free period. Safety endpoints were frequency and severity of adverse events. Patients who received their assigned intervention were included in analyses. This trial is registered with the University Hospital Medical Information Network clinical trials registry, number UMIN000001405. Patients were centrally registered between Nov 13, 2008, and May 19, 2010. Of 52 patients who underwent randomisation, 48 received the assigned intervention (24 were given rituximab and 24 placebo). The median relapse-free period was significantly longer in the rituximab group (267 days, 95% CI 223-374) than in the placebo group (101 days, 70-155; hazard ratio: 0·27, 0·14-0·53; p<0·0001). Ten patients (42%) in the rituximab group and six (25

  2. Congenital nephrotic syndrome may respond to cyclosporine A: A case report and review of literature

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    Mulić Bilsana

    2017-01-01

    Full Text Available Introduction. Congenital nephrotic syndrome (CNF is manifested at birth or within the first three months of life. The Finnish-type of CNF is caused by the mutation of the NPHS1 gene, which encodes nephrin in the podocyte slit diaphragm. It is a very severe disease, for which immunosuppressive therapy is not advised. Here we describe a patient with CNF who responded to CsA by partial remission. Case outline. A girl aged 2.5 months presented with severe non-syndromic steroid-resistant nephrotic syndrome. She needed aggressive support including daily albumin infusions and diuretics. Substitution of vitamin D, thyroxin, and anticoagulants were regularly administered. She was also treated with angiotensin converting enzyme inhibitor, without clear benefits regarding proteinuria. In addition, she received intravenous gamma-globulin replacement therapy and antibiotics during frequent infections. While waiting for the results of genetic analyses and faced with many problems related to daily albumin infusions, infections, and thromboembolic complications, cyclosporine A (CsA was introduced as an alternative to early nephrectomy and consequent renal failure. The patient responded by partial remission and CsA treatment continued at home without the albumin infusions. After almost five years since the beginning of the treatment, the patient’s renal function remains unreduced. Conclusion. Our case demonstrates that CsA can induce partial remission in patients with genetic forms of steroid-resistant nephrotic syndrome without influencing the glomerular filtration rate. However, its long-term effect and safety should carefully be monitored. [Project of the Ministry of Education, Science and Technological Development of Republic of Serbia, Grant No. 175079

  3. A Novel Biomarker Panel to Identify Steroid Resistance in Childhood Idiopathic Nephrotic Syndrome

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    Michael R Bennett

    2017-03-01

    Full Text Available Idiopathic nephrotic syndrome (NS is the most common glomerular disorder of childhood. Response to initial treatment with corticosteroids is an indicator of prognosis, as resistant patients often present more progressive disease. In this cross-sectional pilot study, we set out to discover a panel of noninvasive biomarkers that could distinguish steroid-resistant nephrotic syndrome (SRNS from steroid-sensitive nephrotic syndrome (SSNS. Information gleaned from such a panel could yield more individualized treatment plans and prevent unnecessary steroid exposure in patients unlikely to respond. Urine was collected from 50 pediatric patients diagnosed with idiopathic NS at Cincinnati Children’s Hospital Medical Center. Isobaric tags for relative and absolute quantitation (iTRAQ was used to discover 13 proteins that were differentially expressed in SSNS vs SRNS in a small 5 × 5 discovery cohort. Suitable assays were found for 9 of the 13 markers identified by iTRAQ and were used in a 25 SRNS × 25 SSNS validation cohort. Vitamin D–binding protein (VDBP, alpha-1 acid glycoprotein 1 (AGP1, alpha-1 acid glycoprotein 2 (AGP2, alpha-1-B glycoprotein (A1BG, fetuin-A, prealbumin, thyroxine-binding globulin and hemopexin, and alpha-2 macroglobulin were measured and combined with urine neutrophil gelatinase–associated lipocalin (NGAL, which had been previously shown to distinguish patients with SRNS. Urinary VDBP, prealbumin, NGAL, fetuin-A, and AGP2 were found to be significantly elevated in SRNS using univariate analysis, with area under the receiver operating characteristic curves (AUCs ranging from 0.65 to 0.81. Multivariate analysis revealed a panel of all 10 markers that yielded an AUC of 0.92 for identification of SRNS. A subset of 5 markers (including VDBP, NGAL, fetuin-A, prealbumin, and AGP2 showed significant associations with SRNS and yielded an AUC of 0.85.

  4. Nephrotic syndrome in primary myelofibrosis with renal extramedullary hematopoiesis and glomerulopathy in the JAK inhibitor era.

    Science.gov (United States)

    Del Sordo, Rachele; Brugnano, Rachele; Covarelli, Carla; Fiorucci, Gioia; Falzetti, Franca; Barbatelli, Giorgio; Nunzi, Emidio; Sidoni, Angelo

    2017-01-01

    Primary myelofibrosis (PMF) is an uncommon form of myeloproliferative neoplasm (MPN) characterized by a proliferation of predominantly megakaryocytes and granulocytes in the bone marrow that, in fully-developed disease, is associated with reactive deposition of fibrous connective tissue, extramedullary hematopoiesis (EMH), and splenomegaly. Kidney involvement is rare and clinically presents with proteinuria, nephrotic syndrome, and renal insufficiency. Renal damage can be due to EMH and glomerulopathy. Renal EMH presents three patterns: infiltration of the interstitium with possible renal failure caused by functional damage of parenchyma and vessels, infiltration of capsule and pericapsular adipose tissue, and sclerosing mass-like lesions that can cause hydronephrosis and hydroureter with obstructive uropathy and renal failure. Glomerulopathy associated with PMF is rarely described, ranging from 1 month to 18 years from diagnosis of the neoplasm to renal biopsy. It is characterized by expansion and hypercellularity mesangial, segmental sclerosis, features of chronic thrombotic microangiopathy (TMA), and intracapillary hematopoietic cells infiltrating in absence of immune-mediated glomerulonephritis. We present a nephrotic syndrome in PMF-related glomerulopathy, associated with EMH, without renal failure, in a patient under treatment for 2 years with JAK2 inhibitor ruxolitinib. Despite treatment, the patient died 7 months after renal biopsy. Nephrologists still know very little about this topic and there is no homogeneous data about incidence, pathogenesis, and optimal treatment of this poor prognostic PMF-associated nephrotic syndrome. We focus on data in the literature in the hope of stimulating hematologists, nephrologists, pathologists to future studies about the natural history of renal involvement, useful for optimal management of this rare pathology.

  5. Plasma homocysteine and B vitamins levels in Nigerian children with nephrotic syndrome.

    Science.gov (United States)

    Orimadegun, Bose Etaniamhe; Orimadegun, Adebola Emmanuel; Ademola, Adebowale Dele; Agbedana, Emmanuel Oluyemi

    2014-01-01

    Available data on plasma homocysteine level in patients with nephrotic syndrome (NS) are controversial with increased, decreased and unchanged values reported. Therefore, plasma homocysteine and serum B vitamins in Nigerian children with NS were assessed in this study. Fasting blood samples were analysed for plasma homocysteine, serum folate and B vitamins in 42 children with NS and 42 age and sex-matched healthy controls in this case control study. Data were compared between NS and control using t test and Chi square. Relationships were tested with regression analysis with p set at 0.05. Prevalence of hyperhomocysteinaemia, low folate and cyanocobalamin in NS was 57.1%, 14.3% and 9.5% respectively. The mean homocysteine level was significantly higher in NS than control (11.3±2.6 µmol/L versus 5.5±2.3 µmol/L). Also, NS had lower folate and cyanocobalamin than control: 9.1±3.9 ng/mL versus 11.2±3.1 ng/dL and 268.5±95.7 pg/mL versus 316±117.2 pg/mL respectively. Weak but significant correlation between homocysteine and serum albumin (r = 0.347), folate (r = -0.607) and vitamin B12 (r = -0.185) were found in the NS group. Significant relationship was also found between homocysteine and vitamin B12 (ß = -0.64, 95% CI = -1.20, -0.08) after controlling for folate and vitamin B6 levels. Clinically important hyperhomocysteinaemia and low B vitamins occur in Nigerian children with nephrotic syndrome. This data suggest that potential usefulness of folate and vitamin B supplementation for reducing high homocysteine levels in nephrotic syndrome need to be further investigated.

  6. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

    Science.gov (United States)

    Trautmann, Agnes; Bodria, Monica; Ozaltin, Fatih; Gheisari, Alaleh; Melk, Anette; Azocar, Marta; Anarat, Ali; Caliskan, Salim; Emma, Francesco; Gellermann, Jutta; Oh, Jun; Baskin, Esra; Ksiazek, Joanna; Remuzzi, Giuseppe; Erdogan, Ozlem; Akman, Sema; Dusek, Jiri; Davitaia, Tinatin; Özkaya, Ozan; Papachristou, Fotios; Firszt-Adamczyk, Agnieszka; Urasinski, Tomasz; Testa, Sara; Krmar, Rafael T; Hyla-Klekot, Lidia; Pasini, Andrea; Özcakar, Z Birsin; Sallay, Peter; Cakar, Nilgun; Galanti, Monica; Terzic, Joelle; Aoun, Bilal; Caldas Afonso, Alberto; Szymanik-Grzelak, Hanna; Lipska, Beata S; Schnaidt, Sven; Schaefer, Franz

    2015-04-07

    Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome. Since August of 2009, clinical, biochemical, genetic, and histopathologic information was collected both retrospectively and prospectively from 1655 patients with childhood-onset steroid-resistant nephrotic syndrome, congenital nephrotic syndrome, or persistent subnephrotic proteinuria of likely genetic origin at 67 centers in 21 countries through an online portal. Steroid-resistant nephrotic syndrome manifested in the first 5 years of life in 64% of the patients. Congenital nephrotic syndrome accounted for 6% of all patients. Extrarenal abnormalities were reported in 17% of patients. The most common histopathologic diagnoses were FSGS (56%), minimal change nephropathy (21%), and mesangioproliferative GN (12%). Mutation screening was performed in 1174 patients, and a genetic disease cause was identified in 23.6% of the screened patients. Among 14 genes with reported mutations, abnormalities in NPHS2 (n=138), WT1 (n=48), and NPHS1 (n=41) were most commonly identified. The proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 66% in congenital nephrotic syndrome to 15%-16% in schoolchildren and adolescents. Among various intensified immunosuppressive therapy protocols, calcineurin inhibitors and rituximab yielded consistently high response rates, with 40%-45% of patients achieving complete remission. Confirmation of a genetic diagnosis but not the

  7. The Evidence-Based Approach to Adult-Onset Idiopathic Nephrotic Syndrome.

    Science.gov (United States)

    Canetta, Pietro A A; Radhakrishnan, Jai

    2015-01-01

    Adult-onset nephrotic syndrome (NS) differs from its pediatric counterpart in several important ways. Most importantly, NS in adults is more etiologically heterogeneous compared to children, and thus treatment approaches rely heavily on the histological diagnosis provided by renal biopsy. The evidence-based approach to treatment of adult NS has been critically examined by the Kidney Disease Improving Global Outcomes (KDIGO) guidelines in glomerulonephritis, published in 2012. Here, we examine the strengths and limits of those guidelines and review recent work that expands the evidence-based approach.

  8. Generalised pustular psoriasis, psoriatic arthritis and nephrotic syndrome associated with systemic amyloidosis.

    Science.gov (United States)

    David, M; Abraham, D; Weinberger, A; Feuerman, E J

    1982-09-01

    The case report is presented of a psoriatic patient with arthropathy, generalised pustular psoriasis and nephrotic syndrome, in whom systemic amyloidosis developed. The literature reports 13 cases of psoriasis associated with amyloidosis, 3 of whom suffered from pustular psoriasis as does our case. With the addition of our case, 12 of these 14 had concomitant arthropathy. This seems to suggest that arthritis is an important factor in the appearance of amyloidosis. Rectal biopsy and/or renal biopsy may be helpful in establishing the diagnosis of amyloidosis relatively early in patients with psoriatic arthritis.

  9. Giant Cell Arteritis in a 12-Year-Old Girl Presenting with Nephrotic Syndrome

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    Zeinab A. El-Sayed

    2014-01-01

    Full Text Available Giant cell arteritis (GCA is rare in children. The kidneys are generally spared. We present a case of GCA in a 12-year-old girl with severe headache and tender scalp especially over the right temporal area. The right superficial temporal artery was cord like and nodular and the pulsations were barely felt. Several small tender nodular swellings were felt in the occipital area. She had been previously diagnosed as a case of nephrotic syndrome due to underlying membranoproliferative glomerulonephritis. This report is aimed at drawing attention to this rare form of vasculitis in children aiming at decreasing its morbidities.

  10. Urinary potassium to urinary potassium plus sodium ratio can accurately identify hypovolemia in nephrotic syndrome: a provisional study.

    Science.gov (United States)

    Keenswijk, Werner; Ilias, Mohamad Ikram; Raes, Ann; Donckerwolcke, Raymond; Walle, Johan Vande

    2018-01-01

    There is evidence pointing to a decrease of the glomerular filtration rate (GFR) in a subgroup of nephrotic children, likely secondary to hypovolemia. The aim of this study is to validate the use of urinary potassium to the sum of potassium plus sodium ratio (UK/UK+UNa) as an indicator of hypovolemia in nephrotic syndrome, enabling detection of those patients who will benefit from albumin infusion. We prospectively studied 44 nephrotic children and compared different parameters to a control group (36 children). Renal perfusion and glomerular permeability were assessed by measuring clearance of para-aminohippurate and inulin. Vaso-active hormones and urinary sodium and potassium were also measured. Subjects were grouped into low, normal, and high GFR groups. In the low GFR group, significantly lower renal plasma flow (p = 0.01), filtration fraction (p = 0.01), and higher UK/UK+UNa (p = 0.03) ratio were noted. In addition, non-significant higher plasma renin activity (p = 0.11) and aldosteron (p = 0.09) were also seen in the low GFR group. A subgroup of patients in nephrotic syndrome has a decrease in glomerular filtration, apparently related to hypovolemia which likely can be detected by a urinary potassium to potassium plus sodium ratio > 0.5-0.6 suggesting benefit of albumin infusion in this subgroup. What is Known: • Volume status can be difficult to assess based on clinical parameters in nephrotic syndrome, and albumin infusion can be associated with development of pulmonary edema and fluid overload in these patients. What is New: • Urinary potassium to the sum of urinary potassium plus sodium ratio can accurately detect hypovolemia in nephrotic syndrome and thus identify those children who would probably respond to albumin infusion.

  11. Relapse of nephrotic syndrome during post-rituximab peripheral blood B-lymphocyte depletion.

    Science.gov (United States)

    Sato, Mai; Kamei, Koichi; Ogura, Masao; Ishikura, Kenji; Ito, Shuichi

    2018-02-01

    Rituximab is effective against complicated childhood steroid-dependent nephrotic syndrome (SDNS). Peripheral blood B-lymphocyte (B-cell) depletion is strongly correlated with persistent remission, relapse rarely occurring during B-cell depletion; however, we have encountered several such patients. We retrospectively analyzed the characteristics and clinical course of 82 patients with SDNS treated with rituximab from January 2007 to December 2012 in our institution. Six of 82 patients (7.3%) had relapses during B-cell depletion after receiving rituximab (relapsed group). The remaining 76 patients did not have relapses during B-cell depletion (non-relapsed group). The median time to initial relapse during B-cell depletion was 85 days after receiving rituximab, which is significantly shorter than in the non-relapsed group (410 days, p = 0.0003). The median annual numbers of relapses after receiving rituximab were 2.5 and 0.9 in the relapsed and non-relapsed groups, respectively (p depletion did not differ between the two groups. Relapse during B-cell depletion after receiving rituximab suggests that various pathophysiological mechanisms play a part in childhood nephrotic syndrome.

  12. Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.

    Science.gov (United States)

    Trautmann, Agnes; Schnaidt, Sven; Lipska-Ziętkiewicz, Beata S; Bodria, Monica; Ozaltin, Fatih; Emma, Francesco; Anarat, Ali; Melk, Anette; Azocar, Marta; Oh, Jun; Saeed, Bassam; Gheisari, Alaleh; Caliskan, Salim; Gellermann, Jutta; Higuita, Lina Maria Serna; Jankauskiene, Augustina; Drozdz, Dorota; Mir, Sevgi; Balat, Ayse; Szczepanska, Maria; Paripovic, Dusan; Zurowska, Alexandra; Bogdanovic, Radovan; Yilmaz, Alev; Ranchin, Bruno; Baskin, Esra; Erdogan, Ozlem; Remuzzi, Giuseppe; Firszt-Adamczyk, Agnieszka; Kuzma-Mroczkowska, Elzbieta; Litwin, Mieczyslaw; Murer, Luisa; Tkaczyk, Marcin; Jardim, Helena; Wasilewska, Anna; Printza, Nikoleta; Fidan, Kibriya; Simkova, Eva; Borzecka, Halina; Staude, Hagen; Hees, Katharina; Schaefer, Franz

    2017-10-01

    We investigated the value of genetic, histopathologic, and early treatment response information in prognosing long-term renal outcome in children with primary steroid-resistant nephrotic syndrome. From the PodoNet Registry, we obtained longitudinal clinical information for 1354 patients (disease onset at >3 months and children, respectively, with the highest remission rates achieved with calcineurin inhibitor-based protocols. Ten-year ESRD-free survival rates were 43%, 94%, and 72% in children with IIS resistance, complete remission, and partial remission, respectively; 27% in children with a genetic diagnosis; and 79% and 52% in children with histopathologic findings of minimal change glomerulopathy and FSGS, respectively. Five-year ESRD-free survival rate was 21% for diffuse mesangial sclerosis. IIS responsiveness, presence of a genetic diagnosis, and FSGS or diffuse mesangial sclerosis on initial biopsy as well as age, serum albumin concentration, and CKD stage at onset affected ESRD risk. Our findings suggest that responsiveness to initial IIS and detection of a hereditary podocytopathy are prognostic indicators of favorable and poor long-term outcome, respectively, in children with steroid-resistant nephrotic syndrome. Children with multidrug-resistant sporadic disease show better renal survival than those with genetic disease. Furthermore, histopathologic findings may retain prognostic relevance when a genetic diagnosis is established. Copyright © 2017 by the American Society of Nephrology.

  13. The Correlation of Regulatory T (TReg and Vitamin D3 in Pediatric Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Yunika Nurtyas

    2018-01-01

    Full Text Available Nephrotic syndrome (NS is an autoimmune disease that correlates to the imbalance of regulatory T cells (TReg. This study was aimed to investigate the effect of vitamin D as adjuvant therapy of TReg population in pediatric nephrotic syndrome. This study was designed randomized clinical trial, double blind, with pre- and post-test control groups involving 15 subjects newly diagnosed with NS. Subjects were divided into 2 groups, namely K1 for group treated with prednisone+vitamin D and K2 group for prednisone treatment only. The population of TReg in peripheral blood mononuclear cells (PBMC was analyzed using flowcytometry. Vitamin D serum level was measured through ELISA method. Results showed that there was a significant elevation of TReg (independent t-test, p = 0.010 in K1 group, which was higher than in K2 group. The Pearson test in the K1 group showed that vitamin D level was positively correlated with TReg (p = 0.039, r = 0.779.

  14. Enzymatic Activity of Candida spp. from Oral Cavity and Urine in Children with Nephrotic Syndrome.

    Science.gov (United States)

    Olczak-Kowalczyk, Dorota; Roszkowska-Blaim, Maria; Dąbkowska, Maria; Swoboda-Kopeć, Ewa; Gozdowski, Dariusz; Mizerska-Wasiak, Małgorzata; Demkow, Urszula; Pańczyk-Tomaszewska, Małgorzata

    2017-01-01

    Oral colonization with Candida spp. is not synonymous with a systemic active infection. The aim of the study was to evaluate enzymatic activity of Candida strains isolated from the oral cavity in patients with nephrotic syndrome (NS) and to compare it with the activity determined in urine. We studied 32 children with NS and 26 control healthy children. Children with NS were treated with glucocorticosteroids, cyclosporin A, mycophenolate mofetil or azathioprine. In all children, API-ZYM enzymatic tests were performed to evaluate hydrolytic enzymes of Candida isolated from the oral cavity and in urine. Candida spp. were isolated from the oral cavity in 11 patients with NS (34.4%), all receiving immunosuppressive treatment. All strains produced valine arylamidase, 9 alpha-glucosidase (E16), and 9 N-acetyl-beta-glucosaminidase (E18). A positive correlation between the presence of Candida in the oral cavity and E16 and E18 enzymatic activity in both oral cavity and urine was found. A dose of cyclosporin A had an effect on the enzymatic activity (p Candida invasion. The results of this study suggest that oral candida infection should be monitored in children with nephrotic syndrome, particularly those treated with immunosuppressive agents.

  15. Candida spp. and gingivitis in children with nephrotic syndrome or type 1 diabetes.

    Science.gov (United States)

    Olczak-Kowalczyk, Dorota; Pyrżak, Beata; Dąbkowska, Maria; Pańczyk-Tomaszewska, Małgorzata; Miszkurka, Grażyna; Rogozińska, Izabela; Swoboda-Kopeć, Ewa; Gozdowski, Dariusz; Kalińska, Angelika; Piróg, Anna; Mizerska-Wasiak, Małgorzata; Roszkowska-Blaim, Maria

    2015-05-08

    Diabetes and Nephrotic syndrome (NS) promote plaque-related gingivitis and yeast-like fungal infections. The study assesses the impact of Candida spp. and general disease- or treatment-related factors on plaque-related gingivitis severity in children and adolescents with Nephrotic syndrome /diabetes. Body mass index (BMI), BMI standard deviation score, and oral cavity (Plaque Index--PLI, Gingival Index--GI, mucosa status, presence and Candida enzymatic activity) were assessed in 96 patients (32 with NS: 30- immunosuppressive treatment, 35--type 1 diabetes, and 29 generally healthy), aged; 3-18 years. Laboratory included cholesterol and triglyceride measurements; in diabetic subjects- glycated haemoglobin, in NS: total protein, albumin, creatinine, haemoglobin, haematocrit, white cell count, urinary protein excretion. Medical records supplied information on disease duration and treatment. A statistical analysis was performed; Kendall Tau coefficient, chi-square test, t-test, and multiple regression analysis ( P Gingivitis occurred more frequently in patients with NS/diabetes. Gingivitis severity was correlated with PLI, age, and yeast enzyme activity in NS--to with immunosuppressive treatment with >1 drug, drug doses, treatment duration, lipid disorders, and BMI; in diabetes, with blood glucose and glycated haemoglobin >8%. Poor hygiene control is the main cause of gingivitis. Gingivitis severity is most likely related to age, lipid disorders and increase in body mass. Candida spp., in uncompensated diabetes and in those using immunosuppressive treatment, might intensify plaque-related gingivitis.

  16. Levamisole in steroid-sensitive nephrotic syndrome of childhood: the lost paradise?

    Science.gov (United States)

    Davin, J C; Merkus, M P

    2005-01-01

    Among the different drugs used for sparing steroids in steroid-sensitive nephrotic syndrome (SSNS) with frequent relapses and steroid dependency, levamisole is the least toxic and the least expensive. However, it is neither approved for this indication nor widely used in Europe. This may be explained by the difficulty in obtaining levamisole in some countries and the lack of good quality evidence for its effectiveness. Evidence is limited to three clinical trials that all suffered from methodological limitations. Statistical synthesis of these trials showed that levamisole reduces the risk of a relapse during treatment (relative risk 0.60, 95% confidence interval 0.45-0.79). From the available information, no conclusions can be drawn on the steroid-sparing effect, the long-term efficacy, and safety, as well as possible differences in efficacy in different subgroups of SSNS patients. The confirmation of a favorable effect of levamisole on the reduction of the frequency of relapses and on sparing steroids in an adequately powered, double-blind, placebo-controlled, randomized, multi-center clinical trial will promote consensus on the place of levamisole in the treatment of SSNS of childhood. Follow-up should be at least 1 year to evaluate long-term efficacy and side effects. If the results of such a clinical trial confirm the beneficial effects of levamisole in nephrotic syndrome, this may allow registration for this indication and interest companies other than Jansen-Cilag, which only recently has decided to stop its production.

  17. The correlation between attention deficit hyperactivity disorder and steroid-dependent nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Parsa Yousefichaijan

    2015-01-01

    Full Text Available Nephrotic syndrome (NS is characterized by nephritic-range proteinuria and the triad of clinical findings associated with large urinary losses of protein, hypoalbuminemia, edema and hyperlipidemia. More than 80% of children below 13 years of age with primary NS have steroid-responsive forms. There is no identifiable cause of attention-deficit hyperactivity disorder (ADHD. It is likely that the symptoms of ADHD represent a final common pathway of diverse causes, including genetic, organic and environmental etiologies. This case-control study was performed on 130 children aged between 5 and 13 years who were followed-up for two years. Sixty-five children with steroid-dependent nephrotic syndrome (SDNS as the case group and 65 healthy children as the control group were included in the study. Patients with minimal change NS were treated with prednisolone for at least six months. Conner′s Parent Rating Scale - 48 (CPRS-48 was completed by the parents and the children were identified with any form of ADHD. Then, children were referred to an expert psychiatrist. The collected data were analyzed with SPSS software. The result showed that there was no significant relationship between different types of ADHD in both groups. Thus, based on current study, one may conclude that there are no significant differences between prevalence of ADHD in children with SDNS and the control group.

  18. Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children.

    NARCIS (Netherlands)

    Kyrieleis, H.A.; Lowik, M.M.; Pronk, I.; Cruysberg, J.R.M.; Kremer, J.A.M.; Oyen, W.J.G.; Heuvel, L.P.W.J. van den; Wetzels, J.F.M.; Levtchenko, E.N.

    2009-01-01

    BACKGROUND AND OBJECTIVES: Frequently relapsing and steroid-dependent minimal-change nephrotic syndrome (MCNS) that originates in childhood can persist after puberty in >20% of patients. These patients require immunosuppressive treatment during several decades of their life. We examined long-term

  19. Minimal change nephrotic syndrome in an 82 year old patient following a tetanus-diphteria-poliomyelitis-vaccination

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    Clajus Christian

    2009-08-01

    Full Text Available Abstract Background The most common cause of idiopathic nephrotic syndrome in children and younger adults is the minimal change nephrotic syndrome (MCNS. In the elderly MCNS is relatively uncommon. Over the last decade some reports suggest a rare but possible association with the administration of various vaccines. Case presentation A 82-year old Caucasian female presented with pronounced nephrotic syndrome (proteinuria of 7.1 g/d, hypoproteinemia of 47 g/l. About six weeks prior to admission, she had received a combination vaccination for tetanus, diphtheria and poliomyelitis as a booster-vaccination from her general practitioner. The renal biopsy revealed typical minimal change lesions. She responded well to the initiated steroid treatment. As through physical examination as well as extensive laboratory and imaging studies did neither find any evidence for malignancies nor infections we suggest that the minimal change nephrotic syndrome in this patient might be related to the activation of the immune system triggered by the vaccination. Conclusion Our case as well as previous anecdotal reports suggests that vaccination and the resulting stimulations of the immune system might cause MCNS and other severe immune-reactions. Increased awareness in that regard might help to expand the database of those cases.

  20. Effects of hypercholesterolemia of renal hemodynamics: study in patients with nephrotic syndrome.

    Science.gov (United States)

    Fuiano, G; Esposito, C; Sepe, V; Colucci, G; Bovino, M; Rosa, M; Balletta, M; Bellinghieri, G; Conte, G; Cianciaruso, B; Dal Canton, A

    1996-01-01

    Experimental and clinical studies have demonstrated a positive relationship between hyperlipidemia and rate of progression of renal disease, suggesting that lipids can induce or aggravate glomerular injury mainly by interacting with mesangial cells. Nevertheless, recently has been demonstrated that increased cholesterol levels can also induce endothelial cell dysfunction. Thus, since endothelium is known to play a major role in modulating the vascular tone, we have tested the possibility that hypercholesterolemia impairs the renal hemodynamics in patients with active nephrotic syndrome and elevated serum cholesterol levels. In this single-blind, nonrandom study, 12 patients were treated with pravastatin (group T, treated, n = 12) and 8 with placebo (group C, controls, n = 8). The controls were studied after the pravastatin group had been completed. Before starting the treatment the patients underwent basal determinations including routine laboratory investigations and PAH and inulin clearances. The same determinations were repeated after 48 h, and 6 and 12 weeks from the beginning of the treatment. The study at 48 h was performed to see if pravastatin had a direct, cholesterol-independent effect on renal function. The following basal results were reported (mean +/- SEM; group T vs. group C): serum cholesterol (mmol/l) 9.7 +/- 0.4 vs. 9.1 +/- 0.3 (NS); proteinuria (g/24 h): 6.2 +/- 0.2 vs. 7.0 +/- 0.7 (NS); PAH clearance (ml/min): 353 +/- 21 vs. 385 +/- 31 (NS); inulin clearance (ml/min): 62.5 +/- 7.7 vs. 67 +/- 9.3 (NS). After 48 h, no changes were observed in both groups. Subsequently, in group T, the following percentage changes of basal levels were observed: serum cholesterol -21.4 +/- 3.2% at 6 weeks (p < 0.05) and -34.9 +/- 3.2% at 12 weeks (p < 0.01); inulin clearance +3 +/- 3.7% at 6 weeks (NS) and +9.3 +/- 2.9% at 12 weeks (p < 0.05); PAH clearance +7 +/- 3.1% at 6 weeks (p < 0.05) and +21.2 +/- 5.5% at 12 weeks (p < 0.01). By contrast, no significant

  1. Correlation of fractional excretion of magnesium with steroid responsiveness in children with nephrotic syndrome

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    Jubaida Rumana

    2014-01-01

    Full Text Available Steroid-resistant nephrotic syndrome (SRNS patients are candidates for other alter-native drug regimes, and the non-responsiveness to steroid is more common among glomerulo-nephritides other than minimal change disease. Without performing biopsy and proper renal histology, progression of the disease cannot be assessed. Fractional excretion of magnesium (FE Mg has been found to correlate directly with various renal histologies. The aim of this study is to evaluate the relationship of FE Mg in children with the histological pattern in SRNS. In this prospective observational study, 40 children of nephrotic syndrome, both with the first episode as well as relapse, aged 1-12 years were included in the study. Of them, 20 were steroid-responsive cases and 20 were steroid-resistant cases. FE Mg was determined in all the patients and renal histology was performed in the steroid-resistant cases. A correlation was found between FE Mg and renal histology. Data were analyzed in SPSS program version-16. Comparison of two groups was performed by the Fisher exact test and unpaired t test. P-value less than 0.05 were considered to be significant. The results of histo-pathology showed that the mean difference in FE Mg was significant (P <0.001, as FE Mg was 7.0 ± 2.3% in mesangiocapillary glomerulonephritis, 6.9 ± 1.3% in focal segmental glomerulosclerosis, 4.7 ± 0.6% in immunoglobulin M nephropathy, 4.5 ± 1.2% in focal segmental proliferative glomerulo-nephritis, 4.4 ± 1.6% in minimal change disease, 4.2 ± 0.4% in diffuse mesangial proliferative glome-rulonephritis and 3.8 ± 1.3% in mesangial proliferative glomerulonephritis. There was a statistically significant difference between FE Mg in steroid-resistant nephrotic syndrome (4.9 ± 1.9 and steroid-responsive syndrome (1.2 ± 0.3. FE Mg is a simple, minimally invasive screening marker for SRNS, and is an early predictor of clinical outcome. It can be considered as an initial investigation where biopsy

  2. Hydroxyurea for Treatment of Nephrotic Syndrome Associated With Polycythemia Vera.

    Science.gov (United States)

    Hundemer, Gregory L; Rosales, Ivy A; Chen, Yi-Bin; Colvin, Robert B; Tolkoff-Rubin, Nina E

    2016-09-01

    Myeloproliferative disorders are a rare cause of focal segmental glomerulosclerosis (FSGS), although the mechanism is unclear. Hydroxyurea is commonly used in these disorders for its cytoreductive properties; however, the effect of this treatment on proteinuria or kidney function remains unclear in cases of myeloproliferative disorder-associated FSGS. We describe the clinical course of a patient with polycythemia vera and nephrotic-range proteinuria, demonstrated to have FSGS on biopsy. The patient had a distant history of granulomatosis with polyangiitis (Wegener's), for which he routinely had his kidney function and proteinuria measured, allowing for early detection of nephrotic syndrome soon after being diagnosed with polycythemia vera. Treatment with hydroxyurea resulted in rapid improvement in proteinuria that correlated with a decrease in hematocrit. This response was replicated 2 additional times when the patient was taken off and then restarted on hydroxyurea therapy. He now maintains a steady dose of hydroxyurea with favorable kidney measures (proteinuria with <1g/d of protein excretion and serum creatinine of 1.27mg/dL [corresponding to estimated glomerular filtration rate of 56mL/min/1.73 m(2)]). This case suggests that early screening and treatment for myeloproliferative disorder-associated FSGS may lead to improved long-standing kidney function. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  3. Unusual pediatric co-morbility: autoimmune thyroiditis and cortico-resistant nephrotic syndrome in a 6-month-old Italian patient

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    Urbano Flavia

    2012-10-01

    Full Text Available Abstract We report on a case of autoimmune thyroiditis in a 6-month-old patient with cortico-resistant nephrotic syndrome. Normal serum levels of thyroid hormons and thyroid-stimulating hormone were detected with high titers of circulant antithyroid antibodies and a dysomogeneous ultrasound appearance of the gland, typical of autoimmune thyroiditis. The research of maternal thyroid antibodies was negative. This is the first case of autoimmune thyroiditis found in such a young patient with pre-existing nephrotic syndrome ever described in literature. This association is random because nephrotic syndrome does not have an autoimmune pathogenesis and the genes involved in autoimmune thyroiditis are not related to those of nephrotic syndrome.

  4. Albumin and Furosemide Combination for Management of Edema in Nephrotic Syndrome: A Review of Clinical Studies

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    Margaret Duffy

    2015-10-01

    Full Text Available The treatment of edema in patients with nephrotic syndrome is generally managed by dietary sodium restriction and loop diuretics. However, edema does not improve in some patients despite adequate sodium restriction and maximal dose of diuretics. In such patients, combination of albumin and a loop diuretic may improve edema by diuresis and natriuresis. The response to this combination of albumin and a diuretic has not been observed in all studies. The purpose of this review is to discuss the physiology of diuresis and natriuresis of this combination therapy, and provide a brief summary of various studies that have used albumin and a loop diuretic to improve diuretic-resistant edema. Also, the review suggests various reasons for not observing similar results by various investigators.

  5. Retroperitoneal Bleeding: An Experience During Prophylactic Anticoagulation in a Patient With Nephrotic Syndrome

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    Mari Okada

    2017-07-01

    Full Text Available The association between nephrotic syndrome (NS and a hypercoagulable state has been demonstrated. Controlling the blood clotting activity may therefore be attractive for patients with nephrosis in terms of thromboembolism prophylaxis. We herein report a 75-year-old woman with minimal change disease who developed pains in the right back, groin, and thigh because of retroperitoneal bleeding during prophylactic anticoagulation with unfractionated heparin. Although this procedure has not been accepted as the standard of care for patients with nephrosis, pharmacologic prophylaxis may already be practiced empirically, as in the present patient. We believe that our experience highlights the pitfalls of such a management in patients with nephrosis, implying the need for a diagnostic strategy for identifying those patients with NS who can benefit from prophylactic anticoagulation. Several concerns that emerged in this case are also discussed.

  6. Treatment of Severe Edema in Children with Nephrotic Syndrome with Diuretics Alone — A Prospective Study

    Science.gov (United States)

    Kapur, Gaurav; Valentini, Rudolph P.; Imam, Abubakr A.; Mattoo, Tej K.

    2009-01-01

    Background and objective: Severe edema in children with nephrotic syndrome (NS) may be associated with volume contraction (VC) or volume expansion (VE). Usually, severe edema in children is treated with intravenous (IV) albumin and diuretics, which is appropriate for VC patients. However, in VE patients, this can precipitate fluid overload. The objective of this study was to evaluate treatment of severe edema in NS with diuretics alone. Design, setting, participants, & measurements: Thirty NS patients with severe edema were enrolled in this prospective study in two phases. VC was diagnosed based on fractional excretion of sodium (FeNa) diuretics alone and 9 VC patients received albumin and furosemide. There was no difference in hospital stay and weight loss in VC and VE groups after treatment. Conclusions: FeNa is useful in distinguishing VC versus VE in NS children with severe edema. The use of diuretics alone in VE patients is safe and effective. PMID:19406963

  7. Vitamin D status is insufficient in the majority of children at diagnosis of nephrotic syndrome

    DEFF Research Database (Denmark)

    Nielsen, Cecilie Ane; Jensen, Jens-Erik Bech; Cortes, Dina

    2015-01-01

    (p = 0.048). CONCLUSION: The vitamin D status was insufficient in 93% of the patients. We suggest that vitamin D status in children with NS be measured routinely at the time of diagnosis so that an individual treatment strategy for vitamin D defi-ciency can be given. Further studies are needed......INTRODUCTION: Children with nephrotic syndrome (NS) are treated for at least 12 weeks with high doses of prednisolone, which may be harmful to the bones. Vitamin D deficiency is also harmful to the bones. METHODS: This was a prospective study of consecutive children with first episode of NS...... at the time of their diagnosis before treatment with glucocorticoids. The following plasma levels were measured: 25-hydroxy-vitamin-D (25(OH)D), albumin, ionised calcium, phosphate, parathyroid hormone (PTH), alkaline phosphatase and creatinine. The glomerular filtration rate (GFR) was estimated from...

  8. Vitamin D status is insufficient in the majority of children at diagnosis of nephrotic syndrome

    DEFF Research Database (Denmark)

    Nielsen, Cecilie Ane; Jensen, Jens-Erik Bech; Cortes, Dina

    2015-01-01

    (p = 0.048). CONCLUSION: The vitamin D status was insufficient in 93% of the patients. We suggest that vitamin D status in children with NS be measured routinely at the time of diagnosis so that an individual treatment strategy for vitamin D deficiency can be given. Further studies are needed......INTRODUCTION: Children with nephrotic syndrome (NS) are treated for at least 12 weeks with high doses of prednisolone, which may be harmful to the bones. Vitamin D deficiency is also harmful to the bones. METHODS: This was a prospective study of consecutive children with first episode of NS...... at the time of their diagnosis before treatment with glucocorticoids. The following plasma levels were measured: 25-hydroxy-vitamin-D (25(OH)D), albumin, ionised calcium, phosphate, parathyroid hormone (PTH), alkaline phosphatase and creatinine. The glomerular filtration rate (GFR) was estimated from...

  9. Serum lipoprotein (a) concentration in patients with nephrotic syndrome and its clinical implication.

    Science.gov (United States)

    Yang, X; Wang, H; Zhu, Z; Deng, A

    1998-01-01

    Serum lipoprotein(a) [Lp(a)] concentration was determined in 42 patients with primary nephrotic syndrome (NS) and the relationships between Lp (a) and plasma lipids, apolipoproteins, serum creatinine (Scr), albumin, urinary proteins (Upro) were also analyzed. The results showed that: (1) serum Lp(a) concentrations in the patients with NS were higher than those in healthy controls; (2) the levels of serum Lp(a) were correlated positively with total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), very low density lipoprotein cholesterol (VLDL-C), apolipoprotein B (Apo-B), Upros (Upro). It is concluded that the NS patients had the potential risk of suffering from coronary artery disease, glomerular sclerosis and thrombosis. The remission of NS may partially decrease the serum Lp(a) levels. Further studies are needed to explore the prevention and treatment of dislipedemia in patients with NS.

  10. Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.

    Science.gov (United States)

    Wang, Ying; Dang, Xiqiang; He, Qingnan; Zhen, Yan; He, Xiaoxie; Yi, Zhuwen; Zhu, Kuichun

    2017-08-20

    Approximately 20% of children with idiopathic nephrotic syndrome do not respond to steroid therapy. More than 30 genes have been identified as disease-causing genes for the steroid-resistant nephrotic syndrome (SRNS). Few reports were from the Chinese population. The coding regions of genes commonly associated with SRNS were analyzed to characterize the gene mutation spectrum in children with SRNS in central China. The first phase study involved 38 children with five genes (NPHS1, NPHS2, PLCE1, WT1, and TRPC6) by Sanger sequencing. The second phase study involved 33 children with 17 genes by next generation DNA sequencing (NGS. 22 new patients, and 11 patients from first phase study but without positive findings). Overall deleterious or putatively deleterious gene variants were identified in 19 patients (31.7%), including four NPHS1 variants among five patients and three PLCE1 variants among four other patients. Variants in COL4A3, COL4A4, or COL4A5 were found in six patients. Eight novel variants were identified, including two in NPHS1, two in PLCE1, one in NPHS2, LAMB2, COL4A3, and COL4A4, respectively. 55.6% of the children with variants failed to respond to immunosuppressive agent therapy, while the resistance rate in children without variants was 44.4%. Our results show that screening for deleterious variants in some common genes in children clinically suspected with SRNS might be helpful for disease diagnosis as well as prediction of treatment efficacy and prognosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Immunosupressive therapy in children with steroid-resistant nephrotic syndrome: single center experience.

    Science.gov (United States)

    Echeverri, Catalina Velez; Valencia, Gustavo Adolfo Zuluaga; Higuita, Lina Maria Serna; Gayubo, Ana Katherina Serrano; Ochoa, Carolina Lucia; Rosas, Luisa Fernanda Rojas; Muñoz, Laura Carolina; Sierra, Javier; Zuleta, Jhon Jairo; Ruiz, Juan José Vanegas

    2013-01-01

    [corrected] Nephrotic syndrome is one of the most frequent glomerular diseases among children, and steroid therapy remains as the treatment choice. In spite of this, 10 to 15% of the patients are steroidresistant, and the best therapy for such cases has never been defined. Mycophenolate acid (MA) is one of the treatments used in such situations. To describe the clinical behavior of children diagnosed with steroid-resistant nephrotic syndrome (SRNS) and to assess the therapeutic response to MA. This was a retrospective and descriptive study. 26 clinical records of patients with SRNS; 70% male and 30% female. All patients underwent kidney biopsies, which showed a predominance of focal segmental glomerulosclerosis (FSGS). The immunosuppresive drugs used were: Mycophenolate mofetil (MMF) 100%, Cyclosporine 69.2%, Cyclophosphamide 23.1%, and Rituximab 23%. One month after treatment initiation with MMF 61.5% achieved remission. The median of relapses per year for the patients was 3 (p25: 2.75 - p75: 4). This median became 1 (p25: 1 - p75: 3.25) after using this medication (p = 0.08). Furthermore, prior to the start of the MMF treatment, the median of the steroid dose was 1 (p25: 0.5- p75: 1.62) mg/k/day. After using MMF, this median became 0.07 (p25: 0 - p75: 0.55) mg/k/day (p < 0.001), in 8 patients prednisolone was stopped. In our experience, treatment with MMF showed positive results such as decrease in the frequency of relapses, less proteinuria, and reduction in the dose of steroids administered without deterioration of glomerular filtration rates. However, more studies are needed to assess efficacy, safety, and optimal dosage.

  12. Immunosupressive therapy in children with steroid-resistant nephrotic syndrome: single center experience

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    Catalina Velez Echeverri

    2013-09-01

    Full Text Available INTODUCTION: Nephrotic syndrome is one of the most frequent glomerular diseases among children, and steroid therapy remains as the treatment choice. In spite of this, 10 to 15% of the patients are steroidresistant, and the best therapy for such cases has never been defined. Mycophenolate acid (MA is one of the treatments used in such situations. OBJECTIVE: To describe the clinical behavior of children diagnosed with steroid-resistant nephrotic syndrome (SRNS and to assess the therapeutic response to MA. METHODS: This was a retrospective and descriptive study. RESULTS: 26 clinical records of patients with SRNS; 70% male and 30% female. All patients underwent kidney biopsies, which showed a predominance of focal segmental glomerulosclerosis (FSGS. The immunosuppresive drugs used were: Mycophenolate mofetil (MMF 100%, Cyclosporine 69.2%, Cyclophosphamide 23.1%, and Rituximab 23%. One month after treatment initiation with MMF 61.5% achieved remission. The median of relapses per year for the patients was 3 (p25: 2.75 - p75: 4. This median became 1 (p25: 1 - p75: 3.25 after using this medication (p = 0.08. Furthermore, prior to the start of the MMF treatment, the median of the steroid dose was 1 (p25: 0.5- p75: 1.62 mg/k/day. After using MMF, this median became 0.07 (p25: 0 - p75: 0.55 mg/k/day (p < 0.001, in 8 patients prednisolone was stopped. CONCLUSION: In our experience, treatment with MMF showed positive results such as decrease in the frequency of relapses, less proteinuria, and reduction in the dose of steroids administered without deterioration of glomerular filtration rates. However, more studies are needed to assess efficacy, safety, and optimal dosage.

  13. Nephrotic Syndrome

    Science.gov (United States)

    ... Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying ... español Síndrome nefrótico Kids with too much protein in their urine (pee), sudden weight gain, and ...

  14. Nephrotic syndrome

    Science.gov (United States)

    ... panel Blood urea nitrogen (BUN) Creatinine - blood test Creatinine clearance - urine test Urinalysis Fats are often also present in the urine. Blood cholesterol and triglyceride levels may be high. A kidney biopsy may be needed to find ...

  15. Síndromes nefróticos congénitos y hereditarios Congenital and heritable nephrotic syndromes

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    Sandalio Durán Álvarez

    2011-03-01

    Full Text Available En los últimos años se han identificado muchos síndromes nefróticos familiares y esporádicos que no responden a los tratamientos habituales (esteroides e inmunosupresores, evolucionan con relativa rapidez a la insuficiencia renal crónica y se producen por mutaciones genéticas. La mayoría de los síndromes nefróticos que se trasmiten genéticamente y que pueden ser congénitos, presentarse en el primer año de la vida, o en el niño mayor, son atribuidos a mutaciones en los genes NPHS1, NPHS2, WT1 y LAMB2. Otros síndromes nefróticos producidos por mutaciones genéticas pueden no manifestarse hasta la adultez. El objetivo fundamental de esta revisión fue llamar la atención sobre los síndromes nefróticos producidos por mutaciones genéticas en los que no sólo no se obtienen resultados con los tratamientos inmunosupresores, si no en los que dichos tratamientos pueden ser perjudiciales para el paciente.In past years many familial and sporadic nephrotic syndromes refractory to usual treatments (steroids and immunosuppressives, evolve quickly to a chronic renal failure produced by genetic mutations. Most of nephrotic syndromes genetically transmitted and that may be congenital, present in the first year of life or in the older child, are attributable to NPHS1, NPHS2, WT1 and KLAMB2 gen mutations. Other nephrotic syndromes produced by genetic mutations may not appear until adulthood. The main objective of present review was to alert on the nephrotic syndromes produced by genetic mutations without response to immunosuppressive treatments, but on those in which such treatment may be dangerous for patient.

  16. Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome.

    Science.gov (United States)

    Doublier, S; Ruotsalainen, V; Salvidio, G; Lupia, E; Biancone, L; Conaldi, P G; Reponen, P; Tryggvason, K; Camussi, G

    2001-05-01

    We investigated the distribution of nephrin by immunofluorescence microscopy in renal biopsies of patients with nephrotic syndrome: 13 with membranous glomerulonephritis (GN), 10 with minimal change GN, and seven with focal segmental glomerulosclerosis. As control, six patients with IgA GN without nephrotic syndrome and 10 normal controls were studied. We found an extensive loss of staining for nephrin and a shift from a podocyte-staining pattern to a granular pattern in patients with nephrotic syndrome, irrespective of the primary disease. In membranous GN, nephrin was co-localized with IgG immune deposits. In the attempt to explain these results, we investigated in vitro whether stimuli acting on the cell cytoskeleton, known to be involved in the pathogenesis of GN, may induce redistribution of nephrin on the surface of human cultured podocytes. Aggregated but not disaggregated human IgG(4), plasmalemmal insertion of membrane attack complex of complement, tumor necrosis factor-alpha, and puromycin, induced the shedding of nephrin with a loss of surface expression. This phenomenon was abrogated by cytochalasin and sodium azide. These results suggest that the activation of cell cytoskeleton may modify surface expression of nephrin allowing a dislocation from plasma membrane to an extracellular site.

  17. Astragalus in the Prevention of Upper Respiratory Tract Infection in Children with Nephrotic Syndrome: Evidence-Based Clinical Practice

    Directory of Open Access Journals (Sweden)

    Chuan Zou

    2013-01-01

    Full Text Available Aims. To explore whether Astragalus or its formulations could prevent upper respiratory infection in children with nephrotic syndrome and how best to use it. Methods. We transformed a common clinical question in practice to an answerable question according to the PICO principle. Databases, including the Cochrane Library (Issue 5, 2012, PUBMED (1966–2012.8, CBM (1978–2012.8, VIP (1989–2012.8, and CNKI (1979–2012.8, were searched to identify Cochrane systematic reviews and clinical trials. Then, the quality of and recommendations from the clinical evidence were evaluated using the GRADEpro software. Results. The search yielded 537 papers. Only two studies with high validity were included for synthesis calculations. The results showed that Astragalus granules could effectively reduce URTI in children with nephrotic syndrome compared with prednisone treatment alone (23.9% versus 42.9%; RR = 0.56 and 95% CI = 0.33–0.93. The dose of Astragalus granules was 2.25 gram (equivalent to 15 gram crude Astragalus twice per day, at least for 3–6 months. The level of evidence quality was low, but we still recommended the evidence to the patient according to GRADEpro with the opinion of the expert. Followup showed the incidence of URTI in this child decreased significantly. Conclusions. Astragalus granules may reduce the incidence of URTI in children with nephrotic syndrome.

  18. Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

    Science.gov (United States)

    Braun, Daniela A.; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A.; Schanze, Denny; Ashraf, Shazia; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I. Chiara; Sanchez-Ferras, Oraly; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E.; Pabst, Werner L.; Warejko, Jillian; Daga, Ankana; LeBerre, Tamara Basta; Matejas, Verena; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T.; Gipson, Patrick E.; Hsu, Chyong-Hsin; Kari, Jameela A.; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okasha; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth; Rump, Patrick; Schnur, Rhonda E.; Shiihara, Takashi; Sinha, Manish; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A.; Tsai, Wen-Hui; Tsai, Jeng-Daw; Vester, Udo; Viskochil, David H.; Vatanavicharn, Nithiwat; Waxler, Jessica L.; Wolf, Matthias T.F.; Wong, Sik-Nin; Poduri, Annapurna; Truglio, Gessica; Mane, Shrikant; Lifton, Richard P.; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Calleweart, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

    2018-01-01

    Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies. To date, mutations of WDR73 are the only known monogenic cause of GAMOS and in most affected individuals the molecular diagnosis remains elusive. We here identify recessive mutations of OSGEP, TP53RK, TPRKB, or LAGE3, encoding the 4 subunits of the KEOPS complex in 33 individuals of 30 families with GAMOS. CRISPR/Cas9 knockout in zebrafish and mice recapitulates the human phenotype of microcephaly and results in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibits cell proliferation, which human mutations fail to rescue, and knockdown of either gene activates DNA damage response signaling and induces apoptosis. OSGEP and TP53RK molecularly interact and co-localize with the actin-regulating ARP2/3 complex. Furthermore, knockdown of OSGEP and TP53RK induces defects of the actin cytoskeleton and reduces migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identify 4 novel monogenic causes of GAMOS, describe the first link between KEOPS function and human disease, and delineate potential pathogenic mechanisms. PMID:28805828

  19. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

    Science.gov (United States)

    Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-Ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

    2017-10-01

    Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.

  20. An inducible mouse model of podocin-mutation-related nephrotic syndrome.

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    Mansoureh Tabatabaeifar

    Full Text Available Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. Knock-in mice carrying a R140Q mutation, the mouse analogue of human R138Q, show developmental arrest of podocytes and lethal renal failure at neonatal age. Here we created a conditional podocin knock-in model named NPHS2 R140Q/-, using a tamoxifen-inducible Cre recombinase, which permits to study the effects of the mutation in postnatal life. Within the first week of R140Q hemizygosity induction the animals developed proteinuria, which peaked after 4-5 weeks. Subsequently the animals developed progressive renal failure, with a median survival time of 12 (95% CI: 11-13 weeks. Foot process fusion was observed within one week, progressing to severe and global effacement in the course of the disease. The number of podocytes per glomerulus gradually diminished to 18% compared to healthy controls 12-16 weeks after induction. The fraction of segmentally sclerosed glomeruli was 25%, 85% and 97% at 2, 4 and 8 weeks, respectively. Severe tubulointerstitial fibrosis was present at later disease stage and was correlated quantitatively with the level of proteinuria at early disease stages. While R140Q podocin mRNA expression was elevated, protein abundance was reduced by more than 50% within one week following induction. Whereas miRNA21 expression persistently increased during the first 4 weeks, miRNA-193a expression peaked 2 weeks after induction. In conclusion, the inducible R140Q-podocin mouse model is an auspicious model of the most common genetic cause of human nephrotic syndrome, with a spontaneous disease course strongly reminiscent of the human disorder. This model constitutes a valuable tool to test the efficacy of novel pharmacological interventions aimed to improve podocyte function and viability and attenuate proteinuria

  1. A Prospective Observational Survey on the Long-Term Effect of LDL Apheresis on Drug-Resistant Nephrotic Syndrome

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    Eri Muso

    2015-08-01

    Full Text Available Background/Aims: LDL apheresis (LDL-A is used for drug-resistant nephrotic syndrome (NS as an alternative therapy to induce remission by improvement of hyperlipidemia. Several clinical studies have suggested the efficacy of LDL-A for refractory NS, but the level of evidence remains insufficient. A multicenter prospective study, POLARIS (Prospective Observational Survey on the Long-Term Effects of LDL Apheresis on Drug-Resistant Nephrotic Syndrome, was conducted to evaluate its clinical efficacy with high-level evidence. Methods: Patients with NS who showed resistance to primary medication for at least 4 weeks were prospectively recruited to the study and treated with LDL-A. The long-term outcome was evaluated based on the rate of remission of NS 2 years after treatment. Factors affecting the outcome were also examined. Results: A total of 58 refractory NS patients from 40 facilities were recruited and enrolled as subjects of the POLARIS study. Of the 44 subjects followed for 2 years, 21 (47.7% showed remission of NS based on a urinary protein (UP level Conclusions: Almost half of the cases of drug-resistant NS showed remission 2 years after LDL-A. Improvement of nephrotic parameters at termination of the LDL-A treatment was a predictor of a favorable outcome.

  2. Traditional Chinese Medicine for Refractory Nephrotic Syndrome: Strategies and Promising Treatments

    Science.gov (United States)

    Tu, Yuan-Chao

    2018-01-01

    Refractory nephrotic syndrome (RNS) is an immune-related kidney disease with poor clinical outcomes. Standard treatments include corticosteroids as the initial therapy and other immunosuppressants as second-line options. A substantial proportion of patients with RNS are resistant to or dependent on immunosuppressive drugs and often experience unremitting edema and proteinuria, cycles of remission and relapse, and/or serious adverse events due to long-term immunosuppression. Traditional Chinese medicine has a long history of treating complicated kidney diseases and holds great potential for providing effective treatments for RNS. This review describes the Chinese medical theories relating to the pathogenesis of RNS and discusses the strategies and treatment options using Chinese herbal medicine. Available preclinical and clinical evidence strongly supports the integration of traditional Chinese medicine and Western medicine for improving the outcome of RNS. Herbal medicine such as Astragalus membranaceus, Stephania tetrandra S. Moore, and Tripterygium wilfordii Hook F can serve as the alternative therapy when patients fail to respond to immunosuppression or as the complementary therapy to improve therapeutic efficacy and reduce side effects of immunosuppressive agents. Wuzhi capsules (Schisandra sphenanthera extract) with tacrolimus and tetrandrine with corticosteroids are two herb-drug combinations that have shown great promise and warrant further studies. PMID:29507594

  3. Genotyping Rs2274625 Marker in NPHS2 Gene Associated with Nephrotic Syndrome in Isfahan Population

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    L Esmaili Chamgordani

    2015-12-01

    Full Text Available Introduction: Nephrotic syndrome (NS is a genetic disease belonging to a heterogeneous group of glomerular disorders, which mainly occurs within the children. Linkage analysis using single nucleotide polymorphisms (SNP is used as an indirect method in molecular diagnosis of the disease. A large number of SNP markers have been introduced in NPHS2gene in the available electronic databases. Method: In the present study, the genotype and informative status of rs2274625 marker in NPHS2 genewas investigated in 120 unrelated healthy individuals using Tetra-primer ARMS PCR technique and newly designed primers. Allelic frequency and presence of Hardy Weinberg Equilibrium (HWE was estimated using GenePop website. Furthermore, PowerMarker software was utilized in order to compute the index of polymorphism information content (PIC. Results: The study results indicated allele frequency of 97% and 3% for C and T alleles, respectively, in regard with rs2274625 marker within Isfahan population. Moreover, the PIC for the rs2274625 marker was 0.5%, and HWE revealed the equilibruim of the study population in regard with the related marker. Conclusion: As the study findings indicated, rs2274625 could be introduced as an SNP marker in the linkage analysis in order to molecularly trace NPHS2 gene mutations in molecular NS diagnosis in Isfahan population as a representative sample of the Iranian population.

  4. Polimiosite associada à síndrome nefrótica Polymyositis associated with nephrotic syndrome

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    Renato Oliveira Freire

    2010-08-01

    Full Text Available A polimiosite (PM é uma doença sistêmica do grupo das miopatias inflamatórias idiopáticas, clinicamente caracterizada por fraqueza muscular proximal e simétrica. Há relatos na literatura de PM associada a neoplasias, doenças autoimunes e infecções virais. Entretanto, a associação entre PM e nefropatia não é frequente. Descrevemos o caso de um paciente com polimiosite que evoluiu com síndrome nefrótica devido à presença de glomerulonefrite mesangialPolymyositis (PM is a systemic disease of the idiopathic inflammatory myopathy group, clinically characterized by symmetric and proximal muscle weakness. There are reports in literature of PM associated with malignancies, autoimmune diseases, and viral infections. However, the association between PM and nephropathy is not common. We describe a case report of a patient with polymyositis who developed nephrotic syndrome due to mesangial glomerulonephritis

  5. Non-Autoimmune Subclinical and Overt Hypothyroidism in Idiopathic Steroid-resistant Nephrotic Syndrome in Children.

    Science.gov (United States)

    Marimuthu, Vidhya; Krishnamurthy, Sriram; Rajappa, Medha

    2017-11-15

    To evaluate the frequency of non-autoimmune subclinical and overt hypothyroidism in children with idiopathic steroid-resistant nephrotic syndrome (SRNS). This cross-sectional study recruited 30 children (age 1-18 y) with idiopathic SRNS; and 30 healthy controls. Serum T3, T4 and TSH were performed in cases as well as controls. Anti-thyroid peroxidase and anti-thyroglobulin antibody tests were performed in all cases. Non-autoimmune subclinical or overt hypothyroidism was detected in 10 out of 30 children with idiopathic SRNS; 2 had overt hypothyroidism, while 8 patients had subclinical hypothyroidism. Children with SRNS had a mean (SD) TSH value 4.55 (4.64) mIU/L that was higher as compared to controls (1.88 (1.04) mIU/L) (Phypothyroidism (2 cases) and grade III subclinical hypothyroidism (1 case) were subsequently started on levothyroxine therapy. The prevalence of subclinical and overt hypothyroidism seems to be high in idiopathic SRNS, with almost one-third of children having overt or subclinical non-autoimmune hypothyroidism.

  6. Nephrotic syndrome induced by dibasic sodium phosphate injections for twenty-eight days in rats.

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    Tsuchiya, Noriko; Torii, Mikinori; Narama, Isao; Matsui, Takane

    2009-04-01

    Sprague-Dawley rats received once daily tail-vein injections of 360 mM dibasic sodium phosphate solution at 8 mL/kg for fourteen or twenty-eight days. Clinical examination revealed persistent proteinuria from three days after the first dosing and thereafter severe proteinuria from eight days or later in the phosphate-treated groups. Proteinuria developed without remission even after fourteen-day withdrawal in the fourteen-day dosed group. Phosphate-treated animals developed lipemia, hypercholesterolemia, anemia, higher serum fibrinogen levels, and lower serum albumin/globulin ratios on day 29. Renal weight increased significantly compared with control animals, and the kidneys appeared pale and enlarged with a rough surface. Histopathologically, glomerular changes consisted of mineralization in whole glomeruli, glomerular capillary dilatation, partial adhesion of glomerular tufts to Bowman's capsule, and mesangiolysis. Ultrastructural lesions such as an increased number of microvilli, effacement of foot processes, and thickening of the glomerular basement membrane, and immunocytochemical changes in podocytes, mainly decreased podoplanin-positive cells and increased desmin expression, were also conspicuous in the phosphate-treated rats for twenty-eight days. Marked tubulointerstitial lesions were tubular regeneration and dilatation, protein casts, mineralization in the basement membrane, focal interstitial inflammation, and fibrosis in the cortex. These clinical and morphological changes were similar to features of human nephrotic syndrome.

  7. Forced expression of laminin β1 in podocytes prevents nephrotic syndrome in mice lacking laminin β2, a model for Pierson syndrome

    Science.gov (United States)

    Suh, Jung Hee; Jarad, George; VanDeVoorde, Rene G.; Miner, Jeffrey H.

    2011-01-01

    Pierson syndrome is a congenital nephrotic syndrome with ocular and neurological defects caused by mutations in LAMB2, the gene encoding the basement membrane protein laminin β2 (Lamβ2). It is the kidney glomerular basement membrane (GBM) that is defective in Pierson syndrome, as Lamβ2 is a component of laminin-521 (LM-521; α5β2γ1), the major laminin in the mature GBM. In both Pierson syndrome and the Lamb2−/− mouse model for this disease, laminin β1 (Lamβ1), a structurally similar homolog of Lamβ2, is marginally increased in the GBM, but it fails to fully compensate for the loss of Lamβ2, leading to the filtration barrier defects and nephrotic syndrome. Here we generated several lines of Lamβ1 transgenic mice and used them to show that podocyte-specific Lamβ1 expression in Lamb2−/− mice abrogates the development of nephrotic syndrome, correlating with a greatly extended lifespan. In addition, the more Lamβ1 was expressed, the less urinary albumin was excreted. Transgenic Lamβ1 expression increased the level of Lamα5 in the GBM of rescued mice, consistent with the desired increased deposition of laminin-511 (α5β1γ1) trimers. Ultrastructural analysis revealed occasional knob-like subepithelial GBM thickening but intact podocyte foot processes in aged rescued mice. These results suggest the possibility that up-regulation of LAMB1 in podocytes, should it become achievable, would likely lessen the severity of nephrotic syndrome in patients carrying LAMB2 mutations. PMID:21876163

  8. Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome.

    Science.gov (United States)

    Suh, Jung Hee; Jarad, George; VanDeVoorde, Rene G; Miner, Jeffrey H

    2011-09-13

    Pierson syndrome is a congenital nephrotic syndrome with ocular and neurological defects caused by mutations in LAMB2, the gene encoding the basement membrane protein laminin β2 (Lamβ2). It is the kidney glomerular basement membrane (GBM) that is defective in Pierson syndrome, as Lamβ2 is a component of laminin-521 (LM-521; α5β2γ1), the major laminin in the mature GBM. In both Pierson syndrome and the Lamb2(-/-) mouse model for this disease, laminin β1 (Lamβ1), a structurally similar homolog of Lamβ2, is marginally increased in the GBM, but it fails to fully compensate for the loss of Lamβ2, leading to the filtration barrier defects and nephrotic syndrome. Here we generated several lines of Lamβ1 transgenic mice and used them to show that podocyte-specific Lamβ1 expression in Lamb2(-/-) mice abrogates the development of nephrotic syndrome, correlating with a greatly extended lifespan. In addition, the more Lamβ1 was expressed, the less urinary albumin was excreted. Transgenic Lamβ1 expression increased the level of Lamα5 in the GBM of rescued mice, consistent with the desired increased deposition of laminin-511 (α5β1γ1) trimers. Ultrastructural analysis revealed occasional knob-like subepithelial GBM thickening but intact podocyte foot processes in aged rescued mice. These results suggest the possibility that up-regulation of LAMB1 in podocytes, should it become achievable, would likely lessen the severity of nephrotic syndrome in patients carrying LAMB2 mutations.

  9. Clinical significance of measurement of plasma leptin and serum IL-6, IL-18 levels after treatment in patients with children nephrotic syndrome

    International Nuclear Information System (INIS)

    Wang Xiaoyan

    2011-01-01

    Objective: To explore the clinical significance of changes of plasma leptin and serum IL-6, IL-18 levels after treatment in patients with children nephrotic syndrome. Methods: Plasma leptin (with RIA) serum IL-6, IL-18 (with ELISA) levels were measured in 31 patients with children nephrotic syndrome both before and after treatment as well as in 30 controls. Results: Before treatment,the plasma leptin and serum IL-6, IL-18 levels were significantly higher than those in controls(P <0.01). After treatment for 3 months, the levels in patients though dropped markedly remained significantly higher than those in controls (P<0.05). Plasma leptin levels were positively correlated with IL-6, IL-18 levels (r=0.6138, 0.5784, P<0.01). Conclusion: Changes of plasma leptin and serum IL-6, IL-18 levels after treatment might be of prognostic importance in patients with children nephrotic syndrome. (authors)

  10. Biochemical alteration in children with idiopathic nephrotic syndrome associated with an increased risk of sensorineural hearing loss; additional insights in cochlear renal relationship.

    Science.gov (United States)

    El Mashad, Ghada Mohamed; Abo El Fotoh, Wafaa Moustafa M; Zein El Abedein, Ahmed Mahmoud; Abd El Sadek, Fatma Abd El Raoof

    2017-06-01

    Children with Idiopathic Nephrotic Syndrome (INS) are at risk of hearing loss due to the adverse impact of medications and related immunological and genetic factors on both cochlea and kidney. So this work was planned to evaluate hearing status in children with INS and to clarify the possible associated risk factors by interpreting the clinical and laboratory profiles of those children. Ninety children with INS aged 5-14 years [30 patients with steroid-sensitive nephrotic syndrome (SSNS), 30 patients with steroid dependent/frequently relapsing nephrotic syndrome (SDNS/FRNS), and 30 patients with steroid-resistant nephrotic syndrome (SRNS)], and 90 age and sex matched normal controls were enrolled into this study. Laboratory measurements of serum calcium, creatinine, cholesterol, blood urea and other relevant investigations were done. Pure tone audiometry was done with the sensory-neural hearing loss (SNHL) diagnosed when the level bone conduction was >20 dB and the difference in air to the bone gap was children with INS had SNHL, mostly of mild degree HL and primarily occurred at the lower frequencies. A highly significant statistical difference between controls and various types of nephrotic syndrome regarding pure tone audiometry measurements at frequencies 250, 500, 1000 Hz, whereas insignificant difference interpreting pure tone audiometry measurements in 2000, 4000 and 8000 Hz. Children with different phenotypes of nephrotic syndrome are at risk of sensorineural hearing impairment. The hazards associated with this impairment were higher blood pressure, hypercholesterolemia, hypoalbuminemia, and hypocalcemia. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. A descriptive retrospective study on children with newly diagnosed nephrotic syndrome presented to Tripoli Children Hospital during the period between Jan. to Dec. 2014

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    Naziha Ramadan Rhuma

    2016-10-01

    Full Text Available Introduction: Nephrotic syndrome is a clinical picture characterized by severe proteinuria, hypoalbuminemia, edema and hypercholesterolemia. A retrospective study was carried out in order to describe disease pattern in newly diagnosed nephrotic syndrome of children admitted to Tripoli children hospital during the year 2014. Methods: The medical data of 56 patients aged between 1 year and 11 years diagnosed with idiopathic nephrotic syndrome were analysed using SPSS software. The data included gender differences, sensitivity to steroid therapy, relapses during six months of follow up and the effect of variable factors such as family history, hypertension, hematuria, serum urea on the degree of relapse. Results: Out of 56 patients with newly diagnosed nephrotic syndrome (NS, 60.7% were boys and 39.3% were girls, with a mean age 4.2±2.2 years. Age  was related significantly to the response to steroid therapy, where 79.5% of patients aged between 2-8 years (group 1 had steroid sensitive nephrotic syndrome (SSNS compared with only 41.7% of patients aged less than 2 years or more than 8 years (group 2  (P<0.001.  Although girls relapsed more than boys (70.5% versus 57.1% during six months of therapy, this difference was not statistically significant. Similarly, no other factors measured such as family history of NS, hypertension, hematuria, serum complement and urea had any effect on the percentage of relapse in patients with newly diagnosed NS.  Conclusion: NS is one of the commonest reasons for admission to nephrology ward. It is more common in boys than girls. The age at presentation related significantly to the response to steroidal therapy. Regarding relapses, girls seems to relapse more frequent than boys and relapses was seen more in age group 1 than group 2, however, these differences were not significant. Other factors studied seems to have no effect on the relapse rate of children with newly diagnosed NS. Key-words:  Idiopathic

  12. Rac1 activation in podocytes induces the spectrum of nephrotic syndrome.

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    Robins, Richard; Baldwin, Cindy; Aoudjit, Lamine; Côté, Jean-François; Gupta, Indra R; Takano, Tomoko

    2017-08-01

    Hyper-activation of Rac1, a small GTPase, in glomerular podocytes has been implicated in the pathogenesis of familial proteinuric kidney diseases. However, the role of Rac1 in acquired nephrotic syndrome is unknown. To gain direct insights into this, we generated a transgenic mouse model expressing a doxycycline-inducible constitutively active form of Rac1 (CA-Rac1) in podocytes. Regardless of the copy number, proteinuria occurred rapidly within five days, and the histology resembled minimal change disease. The degree and severity of proteinuria were dependent on the transgene copy number. Upon doxycycline withdrawal, proteinuria resolved completely (one copy) or nearly completely (two copy). After one month of doxycycline treatment, two-copy mice developed glomerulosclerosis that resembled focal segmental glomerulosclerosis (FSGS) with urinary shedding of transgene-expressing podocytes. p38 MAPK was activated in podocytes upon CA-Rac1 induction while a p38 inhibitor attenuated proteinuria, podocyte loss, and glomerulosclerosis. Mechanistically, activation of Rac1 in cultured mouse podocytes reduced adhesiveness to laminin and induced redistribution of β1 integrin, and both were partially reversed by the p38 inhibitor. Activation of Rac1 in podocytes was also seen in kidney biopsies from patients with minimal change disease and idiopathic FSGS by immunofluorescence while sera from the same patients activated Rac1 in cultured human podocytes. Thus, activation of Rac1 in podocytes causes a spectrum of disease ranging from minimal change disease to FSGS, due to podocyte detachment from the glomerular basement membrane that is partially dependent on p38 MAPK. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  13. Relationship between ionized calcium and serum albumin level in children with idiopathic nephrotic syndrome

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    Viiola Irene Winata

    2016-10-01

    Full Text Available Background Nephrotic syndrome (NS patients frequently have abnormalities in calcium metabolism that manifest as hypocalcemia and reduced intestinal absorption of calcium. Hypocalcemia is initially attributed to hypoalbuminemia but it may also relate to a low level of ionized calcium. The ionized calcium level depends on the severity and duration of proteinuria. Objective To assess the rel ationship between ionized calcium and serum albumin level in idiopathic NS children. Methods An analytical study with cross-sectional design was applied to NS and healthy children between 1-14 years old in the Child Health Department of Hasan Sadikin Hospital, Bandung from December 2009 to April 2010. Ionized calcium was examined by Ca2 + analyzer AVL 980 with ion-selective electrodes (ISE methods. Results A total of34 subjects were recruited, consist of 17 NS and 17 healthy children. The mean ionized calcium and serum albumin level in NS children was 4.56 (SD 0.23 mg/dLand 1.45 (SD 0.24 g/dL, respectively. Statistical difference between ionized calcium level in NS and in healthy children was significant (P<0.05. Pearson correlation test between ionized calcium and serum albumin was significant (P<0.05 with correlation coefficient (r 0.53. We found the following equation to estimate ionized calcium (y based on the serum albumin level (x: y=3.84+0.49x. Conclusion There is a moderately positive linear relationship between ionized calcium and serum albumin level in NS children.

  14. Spectrum of nephrotic syndrome in adults: clinicopathological study from a single center in India.

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    Golay, Vishal; Trivedi, Mayuri; Kurien, Anila Abraham; Sarkar, Dipankar; Roychowdhary, Arpita; Pandey, Rajendra

    2013-01-01

    The etiology of nephrotic syndrome (NS) in adults varies depending on the geographical location and is poorly studied in the Indian subcontinent. Patients (≥16 years old) with NS presenting to our center and undergoing a kidney biopsy from April 2010 to September 2012 were included for this study. All biopsies were subjected to light and immunofluorescence microscopy, and electron microscopy in selected cases. The histopathological spectrum was analyzed according to the various clinical parameters. A total of 410 kidney biopsies were included for analysis. Two hundred and thirty seven (57.8%) patients were male and 173 (42.19%) patients were female. The average age at presentation was 33.68 ± 13.88 years. Among the patients, 88.05% (n = 361) were diagnosed with primary glomerular diseases (PGD) and 11.95% (n = 49) with secondary glomerular diseases (SGD). The most common histological lesions were focal segmental glomerulosclerosis (FSGS) (24.63%) followed by minimal change disease (MCD) (23.9%) and membranous nephropathy (MN) (22.44%). The most common form of SGD was lupus nephritis (LN) (6.58% of all cases). FSGS (28.27%) and MCD (21.96%) were the most common lesions in males and females, respectively. In the age groups of 16-29 years, 30-59 years, and ≥60 years, MCD (28.96%), MN (24%), and MN (40.74%) were the most common lesions, respectively, followed by FSGS in all groups (25.68%, 24.5%, and 18.52%, respectively). Among the patients, 27.07% had serum creatinine ≥1.5 mg/dL and 28.54% had either macroscopic or microscopic hematuria. FSGS is increasingly becoming the most common cause of adult NS. This trend in Asia is seen predominantly in countries of the Indian subcontinent.

  15. Systematic biomarker discovery and coordinative validation for different primary nephrotic syndromes using gas chromatography-mass spectrometry.

    Science.gov (United States)

    Lee, Jung-Eun; Lee, Yu Ho; Kim, Se-Yun; Kim, Yang Gyun; Moon, Ju-Young; Jeong, Kyung-Hwan; Lee, Tae Won; Ihm, Chun-Gyoo; Kim, Sooah; Kim, Kyoung Heon; Kim, Dong Ki; Kim, Yon Su; Kim, Chan-Duck; Park, Cheol Whee; Lee, Do Yup; Lee, Sang-Ho

    2016-07-01

    The goal of this study is to identify systematic biomarker panel for primary nephrotic syndromes from urine samples by applying a non-target metabolite profiling, and to validate their utility in independent sampling and analysis by multiplex statistical approaches. Nephrotic syndrome (NS) is a nonspecific kidney disorder, which is mostly represented by minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and membranous glomerulonephritis (MGN). Since urine metabolites may mirror disease-specific functional perturbations in kidney injury, we examined urine samples for distinctive metabolic changes to identify biomarkers for clinical applications. We developed unbiased multi-component covarianced models from a discovery set with 48 samples (12 healthy controls, 12 MCD, 12 FSGS, and 12 MGN). To extensively validate their diagnostic potential, new batch from 54 patients with primary NS were independently examined a year after. In the independent validation set, the model including citric acid, pyruvic acid, fructose, ethanolamine, and cysteine effectively discriminated each NS using receiver operating characteristic (ROC) analysis except MCD-MGN comparison; nonetheless an additional metabolite multi-composite greatly improved the discrimination power between MCD and MGN. Finally, we proposed the re-constructed metabolic network distinctively dysregulated by the different NSs that may deepen comprehensive understanding of the disease mechanistic, and help the enhanced identification of NS and therapeutic plans for future. Copyright © 2016 Elsevier B.V. All rights reserved.

  16. R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome

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    Shatha Hussain Ali

    2017-01-01

    Full Text Available Background. The polymorphism R229Q is one of the most commonly reported podocin sequence variations among steroid-resistant nephrotic syndromes (SRNS. Aim of the Study. We investigated the frequency and risk of this polymorphism among a group of Iraqi children with SRNS and steroid-sensitive nephrotic syndrome (SSNS. Patients and Methods. A prospective case control study which was conducted in Al-Imamein Al-Kadhimein Medical City, spanning the period from the 1st of April 2015 to 30th of November 2015. Study sample consisted of 54 children having NS, divided into 2 groups: patients group consisted of 27 children with SRNS, and control group involved 27 children with SSNS. Both were screened by real time polymerase chain reaction for R229Q in exon 5 of NPHS2 gene. Results. Molecular study showed R229Q polymorphism in 96.3% of SRNS and 100% of SSNS. There were no phenotypic or histologic characteristics of patients bearing homozygous R229Q polymorphism and the patients with heterozygous R229Q polymorphism. Conclusion. Polymorphism R229Q of NPHS2 gene is prevalent in Iraqi children with SRNS and SSNS. Further study needs to be done, for other exons and polymorphism of NPHS2 gene in those patients.

  17. [A Case of Advanced Transverse Colon Cancer with Nephrotic Syndrome Treated with Curative Resection and Complete Adjuvant Chemotherapy].

    Science.gov (United States)

    Sato, Nobutaka; Fuyuno, Seiya; Hatada, Teppei; Furuhashi, Takashi; Abe, Toshihiko

    2017-05-01

    A 74-year-old woman was diagnosed as having transverse colon cancer after diagnosis of nephrotic syndrome caused by membranous nephropathy. Although she had hypoproteinemia and hypoalbuminemia, we judged that she had no major nutritional problem. In previous, similar case reports, the use of human serum albumin and fresh-frozen plasma was suggested to be important to avoid complications in the perioperative period. Thus, we used the same in our patient in the perioperative period. In addition, we paid special attention to perioperative nutrition management and used total parenteral nutrition in perioperative period. We performed laparoscopic assisted right hemicolectomy. On the 15th day after the surgical resection, the patient was discharged without any problems. We considered that postoperative adjuvant chemotherapy with XELOX (CapeOX)should be performed because the TNM pathological stage was pStage III b. Regarding adjuvant chemotherapy for gastrointestinal cancer with nephrotic syndrome, no previous reports detailed the indications for postoperative adjuvant chemotherapy. Upon introduction of adjuvant chemotherapy, we determined adaptation in accordance with the general adaptation criteria. While observing the patient's progress with a nephrologist, we safely completed the scheduled 8 courses adjuvant chemotherapy.

  18. A randomized clinical trial indicates that levamisole increases the time to relapse in children with steroid-sensitive idiopathic nephrotic syndrome

    NARCIS (Netherlands)

    Gruppen, Mariken P.; Bouts, Antonia H.; Jansen-van der Weide, Marijke C.; Merkus, Maruschka P.; Zurowska, Aleksandra; Maternik, Michal; Massella, Laura; Emma, Francesco; Niaudet, Patrick; Cornelissen, Elisabeth A. M.; Schurmans, Thierry; Raes, Ann; van de Walle, Johan; van Dyck, Mieke; Gulati, Ashima; Bagga, Arvind; Davin, Jean-Claude

    2018-01-01

    Levamisole has been considered the least toxic and least expensive steroid-sparing drug for preventing relapses of steroid-sensitive idiopathic nephrotic syndrome (SSINS). However, evidence for this is limited as previous randomized clinical trials were found to have methodological limitations.

  19. A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

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    Mohammad Al-Haggar

    2017-01-01

    Full Text Available Marfan syndrome (MFS, the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1 and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.

  20. GLUCOCORTICOSTEROID THERAPY AND PHYSICAL DEVELOPMENTOF CHILDREN WITH STEROID-SENSITIVE NEPHROTIC SYNDROME: A RETROSPECTIVE STUDY

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    Olga A. Zhdanova

    2017-01-01

    Full Text Available Background. Body weight gain and growth retardation are common side effects of prolonged glucocorticosteroid  therapy in children. Time for the appearance  and elimination of glucocorticosteroid  obesity  as well as growth disorders  require further investigations.Objective.  Our aim was to study the relationship between glucocorticosteroid  therapy and changes in physical development indices of children with steroid-sensitive nephrotic syndrome (SSNS.Methods. We carried out a retrospective study of case records of patients with SSNS hospitalized in 2011–2014.  Treatment of children was carried out in accordance with the Federal Clinical Guidelines. The Z-score (ANTHRO Plus was determined for body length (height, body weight, body mass index and correlation of physical development indices with a cumulative dose and duration of glucocorticosteroid  therapy.Results.  We analyzed data on the treatment of 31 children, 18 of them received glucocorticosteroids  for 6 months (Group 1, 13 of them did not receive glucocorticosteroids       6 months (Group 2. The Z-score  of body weight in children in these groups was 1.64 ± 1.54 and 0.05 ± 1.19 (p = 0.004, Z-score  of body mass index was 1.85 ± 1.64 and -0.54 ± 1.14, respectively (p < 0.001. Excess body weight and obesity were only observed in children of Group 1 (in 6 and 9, respectively.  The Z-score  of the body length of patients in groups 1 and 2 were comparable and did not differ from normal values (0.34 ± 1.08 and 0.52 ± 1.12, respectively, p = 0.655. Correlation of Z-score values of the body length and cumulative doses of glucocorticosteroids was noted (r = -0.87, p < 0.001.Conclusion. Long-term (at least 6 months glucocorticosteroid intake is associated with the development of overweight and obesity in most children with SSNS. In patients who did not use hormonal drugs for 6 months, normal body weight values were recorded. The height of children with SSNS was within

  1. An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.

    Science.gov (United States)

    Minzala, G; Ismail, G

    2016-10-01

    Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome. © The Author(s) 2016.

  2. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

    Science.gov (United States)

    Bierzynska, Agnieszka; McCarthy, Hugh J; Soderquest, Katrina; Sen, Ethan S; Colby, Elizabeth; Ding, Wen Y; Nabhan, Marwa M; Kerecuk, Larissa; Hegde, Shivram; Hughes, David; Marks, Stephen; Feather, Sally; Jones, Caroline; Webb, Nicholas J A; Ognjanovic, Milos; Christian, Martin; Gilbert, Rodney D; Sinha, Manish D; Lord, Graham M; Simpson, Michael; Koziell, Ania B; Welsh, Gavin I; Saleem, Moin A

    2017-04-01

    Steroid Resistant Nephrotic Syndrome (SRNS) in children and young adults has differing etiologies with monogenic disease accounting for 2.9-30% in selected series. Using whole exome sequencing we sought to stratify a national population of children with SRNS into monogenic and non-monogenic forms, and further define those groups by detailed phenotypic analysis. Pediatric patients with SRNS were identified via a national United Kingdom Renal Registry. Whole exome sequencing was performed on 187 patients, of which 12% have a positive family history with a focus on the 53 genes currently known to be associated with nephrotic syndrome. Genetic findings were correlated with individual case disease characteristics. Disease causing variants were detected in 26.2% of patients. Most often this occurred in the three most common SRNS-associated genes: NPHS1, NPHS2, and WT1 but also in 14 other genes. The genotype did not always correlate with expected phenotype since mutations in OCRL, COL4A3, and DGKE associated with specific syndromes were detected in patients with isolated renal disease. Analysis by primary/presumed compared with secondary steroid resistance found 30.8% monogenic disease in primary compared with none in secondary SRNS permitting further mechanistic stratification. Genetic SRNS progressed faster to end stage renal failure, with no documented disease recurrence post-transplantation within this cohort. Primary steroid resistance in which no gene mutation was identified had a 47.8% risk of recurrence. In this unbiased pediatric population, whole exome sequencing allowed screening of all current candidate genes. Thus, deep phenotyping combined with whole exome sequencing is an effective tool for early identification of SRNS etiology, yielding an evidence-based algorithm for clinical management. Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  3. Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses.

    Science.gov (United States)

    Toubiana, Julie; Schlageter, Marie-Hélène; Aoun, Bilal; Dunand, Olivier; Vitkevic, Renata; Bensman, Albert; Ulinski, Tim

    2009-04-01

    Congenital nephrotic syndrome of the Finnish type (CNF) is due to NPHS1 mutation and is responsible for a variety of urinary protein losses. We report the case of a 4-month-old girl with a particularly severe form (proteinuria approximately 150 g/l) of CNF. She developed severe non-regenerative anaemia requiring bi-monthly blood transfusions despite daily EPO (600 UI/kg) and iron supplementation. Epoetin pharmacokinetics revealed a urinary loss of 27% of the given dose within the first 24 h after IV injection. However, plasma levels remained increased after 24 h (228 UI/l). Plasma transferrin and transcobalamin levels were undetectable. Atransferrinaemia and atranscobalaminaemia seem to be responsible for disturbed erythropoiesis.

  4. A case of seropositive Neuromyelitis Optica in a paediatric patient with co-existing acute nephrotic syndrome.

    Science.gov (United States)

    Volkman, Thomas; Hemingway, Cheryl

    2017-11-01

    Neuromyelitis optica (NMO) and NMO spectrum disorder (NMOSD) is a rare relapsing autoimmune disease of the central nervous system constituting less than 1% of demyelinating diseases (Jeffery and Buncic, 1996). It preferentially affects the optic nerves and spinal cord, with the brain parenchyma generally spared. Demyelinating lesions are characterised by longitudinally extensive transverse myelitis (LETM) and often longitudinally extensive optic neuritis. Following the discovery of a novel pathogenic antibody, Aquaporin 4 in 2004 (Lennon et al., 2004) this disease has been seen as a separate entity from Multiple Sclerosis (MS). We report the case of a severe AQP4 IgG case of NMO in a 10 year old child. This case unusually had a coexisting diagnosis of acute nephrotic syndrome which has only been reported once previously in the literature 2 . This article will examine some of the treatment challenges and the spectrum of co-existing autoimmune disease in NMOSD. Copyright © 2017. Published by Elsevier B.V.

  5. Successful treatment of nephrotic syndrome induced by lambda light chain deposition disease using lenalidomide: A case report and review of the literature
.

    Science.gov (United States)

    Mima, Akira; Nagahara, Dai; Tansho, Kosuke

    2018-06-01

    Light chain deposition disease (LCDD) is a monoclonal immunoglobulin deposition disease (MIDD) that is characterized by the deposition of monoclonal light chains in multiple organs, including the kidney. It is a rare disorder caused by an underlying monoclonal plasma cell dyscrasia. LCDD with renal involvement causes proteinuria, which sometimes can lead to nephrotic syndrome. The monoclonal light chains are mostly in the κ form. Treatment of LCDD is the same as that for multiple myeloma (MM); however, some conventional anticancer drugs show substantial toxicity and therefore cannot be administered to older patients or those with renal impairment. An 80-year-old woman was referred to our department with severe nephrotic syndrome (13.6 g/gCr) and anemia. A renal biopsy showed mesangial proliferation and mesangial matrix expansion, and immunohistochemistry showed positive staining for λ chains along the glomerular basement membrane, but was negative for κ chains or amyloid deposition. A bone marrow biopsy revealed 64% plasma cells. Immunoglobulin G (IgG)-λ type M protein was detected, and the levels of free λ chain was significantly increased. We concluded that her nephrotic syndrome was caused by LCDD, which resulted from IgG-λ MM. The induction of a BCD (bortezomib, cyclophosphamide, and dexamethasone) treatment regimen did not lead to a hematological response or decrease in proteinuria. The administration of combination therapy of lenalidomide and prednisolone led to the successful reduction of proteinuria and hematuria. We presented a very rare case report describing the successful treatment of LCDD (λ chain)-induced nephrotic syndrome with lenalidomide.
.

  6. Pattern of steroid resistant nephrotic syndrome in children living in the kingdom of Saudi Arabia: A single center study

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    Kari Jameela

    2009-01-01

    Full Text Available Steroid resistant nephrotic syndrome (SRNS remains a challenge facing pediatric nephrologists. The underlying histopathology usually affects the course of the disease and the response to treatment. We studied the pattern of histopathology in children with SRNS who presented to the King Abdul Aziz University Hospital (KAUH, Jeddah, Saudi Arabia. The records of all children with primary SRNS, who were seen between 2002 and 2007 were reviewed. Only patients who had undergone a renal biopsy were included in the study. The histopathology slides were reviewed by two renal pathologists independently. Patients with congenital nephrotic syndrome, lupus or sickle cell disease, were excluded from the study. Thirty-six children fulfilled the inclusion criteria, and included 25 girls and 11 boys with female to male ratio of 2.3:1. Fifty percent of the children (n=18 were Saudi and the remaining 50% were from various other racial backgrounds (9 Asians, 4 Arabs, 2 Africans and 3 from the Far East. Their mean age at presentation was 4.3 ± 3.0 years (range 1-12 years. The mean serum albumin at presentation was 15.6 ± 7.1 g/L and all of them had 4+ proteinuria on urinalysis. Five children had elevated serum creatinine at presentation while the mean serum creatinine was 50.4 ± 45.6 µmol/L. Three children had low serum complement levels at presentation and none were positive for hepatitis B surface antigen or antinuclear antibody (ANA. The renal histopathology was compatible with focal and segmental glomerulosclerosis (FSGS in 39% (n=14, IgM nephro-pathy in 28% (n=10, mesengioproliferative glomerulonephritis (MesPGN in 17% (n=6, mini-mal change disease (MCD and C1q nephropathy (C1qNP in 8% each (n=3 + 3 and IgA nephro-pathy in 3% (n=1. Our retrospective review shows that FSGS was the commonest underlying histopathology in children who presented with SRNS followed by IgM nephropathy and other variants of MCD such as MesPGN. C1qNP was the underlying cause in some

  7. Nephrotic syndrome associated with hepatointestinal schistosomiasis Síndrome nefrótica associada à esquistossomose hepatointestinal

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    H. Abensur

    1992-08-01

    Full Text Available Schistosomal nephropathy has long been related to the hepatosplenic form of schistosomiasis. In the last few years, 24 patients with hepatointestinal schistosomiasis and the nephrotic syndrome were studied. Aiming at evaluating a possible etiologic participation of schistosomiasis in the development of the nephropathy, this group was comparatively studied with a group of 37 patients with idiopathic nephrotic syndrome. Both groups had a different distribution of the histologic lesions. In the group with schistosomiasis there was a statistically significant prevalence of proliferative mesangial glomerulonephritis (33.3%, whereas in the control group there was prevalence of membranous glomerulonephritis (32.4%. On immunofluorescence, IgM was positive in 94.4% of the patients with schistosomiasis versus 55.0% in the control group (pA nefropatia esquistossomótica está classicamente vinculada à fornia hepatoesplênica da esquistossomose. Ao longo dos últimos anos 24 casos de pacientes esquistossomóticos hepato-intestinais e portadores de síndrome nefrótica foram estudados. Com o objetivo de verificar a possível participação etiológica da esquistossomose na gênese da nefropatia, analisamos este grupo comparativamente ao grupo de 37 doentes portadores de síndrome nefrótica idiopática. Ambos os grupos apresentaram distribuição distinta dos tipos histológicos de glomerulopatia. No grupo de esquistossomóticos houve predomínio estatisticamente significante de glomerulonefrite proliferativa mesangial (33.3%, enquanto no grupo controle houve predomínio da glomerulonefrite membranosa (32.4%. A positividade para IgM à imunofluorescência foi de 94.4% nos doentes esquistossomóticos versus 55.0% no grupo controle (p<0.01. No grupo de esquistossomóticos 8 pacientes evidenciaram glomerulonefrite proliferativa mesangial e 5, glomerulonefrite membranoproliferativa. Em ambos os tipos histológicos a imunofluorescência mostrou dep

  8. Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

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    Al-Eisa AA

    2016-08-01

    Full Text Available Amal A Al-Eisa, Mohammad Z Haider Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait Background: Vitamin D activity is controlled by vitamin D receptors (VDRs, which are affected by different genetic polymorphisms, including TaqI and Apal restriction fragment length polymorphisms (RFLPs, which have been reported to be associated with several diseases. The aim of this study was to determine the frequency and the association of VDR gene polymorphisms with idiopathic nephrotic syndrome (INS and steroid responsiveness in Kuwaiti children. Subjects and methods: Genotypes of the VDR TaqI gene polymorphism and the Apal gene polymorphism were analyzed using polymerase chain reaction-RFLP in 78 INS patients and 56 matched controls. Results: A total of 78 INS (62 steroid sensitive [SS] and 16 steroid resistant [SR] patients with a mean age of 6.5±3.1 years were studied. Male:female ratio was 2:1. The TT genotype of VDR–TaqI polymorphism was detected in 41% of the INS patients compared to 42% of the controls (P=0.816. The heterozygous TC genotype was detected in 33% of INS patients compared to 46% of the controls (P=0.462. The CC genotype was detected in 25.6% of INS patients and 21% of the controls (P=0.719. The C-allele frequency, in its homozygous and heterozygous forms, was 71% in INS patients compared to 63% in the controls (P=0.342. Similarly, no significant difference was detected in terms of VDR–Apal polymorphism in INS patients compared to the controls for all the three genotypes (P=0.76, P=0.207, and P=0.364, respectively, for GG, GT, and TT genotypes. The T-allele frequency, in its homozygous and heterozygous forms, was 89% in INS patients compared to 93% in the controls (P=0.076. No significant difference was found in any of the allele frequencies between SS and SR subgroups when compared with each other or when compared to the controls. Conclusion: Our data do not support the use of VDR–TaqI or

  9. Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

    Science.gov (United States)

    Kondo, Daiki; Noguchi, Atsuko; Tamura, Hiroaki; Tsuchida, Satoko; Takahashi, Ikuko; Kubota, Hiroki; Yano, Tamami; Oyama, Chikako; Sawaishi, Yukio; Moriwaki, Shinichi; Takahashi, Tsutomu

    2016-07-01

    Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP) and Cockayne syndrome (CS). In addition to the cutaneous photosensitivity shared in XP and CS, CS is featured by growth failure, neurological deterioration, microcephaly, and deep sunken eyes. XP/CS complex is an extremely rare type of NER disorder with a distinct phenotype that is characterized by the skin and eye pathology of XP and the somatic and neurological abnormalities of CS. Some of CS cases have been reported to be complicated with renal failure, but the genetic background or the etiology of the renal failure has not been reported. We herein report a 1-year-old Japanese boy with XP/CS complex, complicated by nephrotic syndrome. Diagnosis was confirmed by the presence of compound heterozygous mutations, G47R (c.139G>A) and R616G (c.1846C>G), in the excision repair cross-complementation group 2 (ERCC2) gene. The kidney biopsies, performed at the age of 1 year and 2 months, revealed diffuse expansion of the mesangial matrix and segmental glomerulosclerosis under light microscopy, and diffused thin capillary walls with partially lamellated regions under electron microscopy. Notably, high levels of urinary 8-hydroxy-2'-deoxyguanosin, known as an oxidative stress marker, were observed during the clinical course. The patient died at the age of 1 year and 11 months because of renal failure. We suggest the involvement of oxidative stress in the pathogenesis of nephrotic syndrome in NER disorders.

  10. Low serum immunglobulin G (IgG) during nephrosis is a predictor of urinary tract infection (UTI) in children with nephrotic syndrome.

    Science.gov (United States)

    Afroz, S; Roy, D K; Khan, A H

    2013-04-01

    Low serum level of IgG, complement C3 and C4 in nephrotic syndrome children may cause increased susceptibility to infection. Serum level of IgG and complements in nephrotic children (NS) with UTI has been analyzed in this cross sectional study. It was carried out in the department of Pediatric nephrology, National Institute of Kidney Diseases & Urology (NIKDU), Dhaka, Bangladesh. The study subjects were followed up prospectively for one year to see and compare the frequency of relapse of NS and UTI. Patients were selected in a nonrandom purposive technique. Nephrotic syndrome children with initial attack between 1-12 year of age were included over a period of one year. The patients were grouped into Group I - UTI positive and Group II - UTI negative depending on urine culture positivity and colony count >10⁵ CFU/ml. Serum IgG and complements C3, C4 levels were done in both groups during nephrosis and were compared. A total of 101 children M: F 1.7:1, mean age 5.96±3.2 years were included in this study. Group I, n=45 vs. Group II, n=56. The mean serum level of IgG was low in Group I (549.91±210.71 vs. 728.64±235.81mg/dl, pUTI in nephrotic children. Higher number of children in Group II were at remission (n=24) during follow up, while frequent relapsers were high in Group I (n=22). Increased frequency of UTI attack (88 episodes) was found in Group I children compared to none in Group II during follow up. So low serum level of IgG in children with NS during nephrosis can predict UTI with an odds ratio of 6.63 as well as relapse. Serum level of C3, C4 do not associated with any risk of development of UTI in NS children.

  11. Serum and urinary lipoproteins in the human nephrotic syndrome: evidence for renal catabolism of lipoproteins

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    Shore, V.G.; Forte, T.; Licht, H.; Lewis, S.B.

    1982-03-01

    The urinary excretion of lipoproteins and the possibility of catabolic alterations on glomerular filtration were investigated in four nephrotic subjects difering in etiology, serum lipoprotein profile, and 24 hr urinary output of protein and lipids. The apolipoproteins and lipoproteins of urine were compared with those of serum with respect to distribution profile, physical properties, and composition. As expected from molecular sieving effects during glomerular filtration, the urinary HDL were more abundant than the lower density lipoproteins even when the plasma LDL was elevated markedly. Intact apolipoproteins were not found in the concentrated urinary fraction isolated by ultrafiltration between the limits of 10/sup 4/ and 5 x 10/sup 4/ daltons. On the basis of immunoreactivity, gel electrophoresis, and amino acid composition, apolipoproteins B and AI are the major and minor proteins, respectively, of urinary LDL, and apo B is the major protein of the urinary IDL and VLDL. Apolipoproteins AI, AII, CI, CIII, and possibly AIV were isolated from the urinary HDL. As much as 20% of the protein moiety of the urinary HDL appeared to be large apolipoprotien fragments with molecular weights and isoelectric points similar to those of apo CII and apo CIII. The lower density classes of urinary lipoproteins also appeared to have lost apo E and apo C's and to have undergone partial proteolysis.

  12. Mesenchymal Stem Cells May Ameliorate Nephrotic Syndrome Post-Allogeneic Hematopoietic Stem Cell Transplantation-Case Report

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    Xin Zhang

    2017-08-01

    Full Text Available IntroductionBecause of their immunomodulatory and anti-inflammatory effects, mesenchymal stem cells (MSCs have been considered as potential therapeutic agents for treating immune-related or autoimmune diseases, such as graft-versus-host disease (GVHD. Nephrotic syndrome (NS after allogeneic hematopoietic stem cell transplantation (allo-HSCT is an uncommon complication with unclear etiology and pathogenesis. It may be an immune disorder involving immune complex deposition, B cells, regulatory T cells (Tregs, and Th1 cytokines and be a manifestation of chronic GVHD. Corticosteroids and calcium antagonists, alone or in combination, are the most common therapeutic agents in this setting. Rituximab is commonly administered as salvage treatment. However, treatment failure and progressive renal function deterioration has been reported to occur in approximately 20% of patients in a particular cohort.Case presentationWe present a patient who developed NS 10 months after allo-HSCT. After treatment failure with cyclosporine A, prednisone, and rituximab, she achieved a complete response with MSC treatment. The clinical improvement of this patient was accompanied by a decreased B cell population together with an increased frequency of regulatory B cells (Bregs and Tregs after MSC treatment.ConclusionMSCs could modulate NS after allo-HSCT by suppressing B cell proliferation, inducing Tregs and Bregs, and inhibiting inflammatory cytokine production by monocytes and NK cells. Among all these, Bregs might play an important role in ameliorating the NS of this patient.

  13. Association of neutrophil gelatinase associated lipocalin and cystatin-c with kidney function in children with nephrotic syndrome

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    Alaleh Gheissari

    2013-01-01

    Full Text Available Background: Nephrotic syndrome (NS is a major clinical concern in human health, especially in children. Despite of the etiology, the prediction of remission in different treatment regimens based on suitable biomarkers is under development. The goal of this evaluation was the demonstration of correlation between serum level of Neutrophil gelatinase associated lipocalin (NGAL and cystatin-C with kidney function in patients with NS. Methods: During the period between September 2008 and December 2011, 52 patients admitted to St. Al Zahra University Hospital were selected for evaluation. The measured parameters consisted of NGAL, cystatin-C, creatinine, albumin, blood urea nitrogen, urine protein, glomerular filtration rate. Demographic data were collected and considered in comparisons. Comparison between variables and their correlations were examined. Results: Means of serum NGAL and cystatin-C were significantly higher in case than the control group, P < 0.05. The mean of serum NGAL in patients without remission and who achieved remission were 23.09 (standard deviation [SD] ±10.11 and 36.26 (SD ± 20.10 ng/ml respectively; P < 0.05. Serum NGAL levels had a correlation with the following factors: Systolic blood pressure, diastolic blood pressure (DBP, cystatin-C, remission. Linear regression analysis showed a significant correlation between cystatin-C and systolic and DBP. Conclusions: Based on the results, serum NGAL can be used as a prognostic marker for remission. In addition, NGAL and cystatin-C are biomarkers of kidney injury in NS.

  14. The significance of determination of renal tubular markers before and after treatment in the primary nephrotic syndrome

    International Nuclear Information System (INIS)

    Xie Bing; Jiang Liping

    2011-01-01

    Objective: To evaluate the damage of renal tubule of patients with primary nephrotic syndrome (PNS) by detecting renal tubule markers and investigate the significance of different therapeutic effects. Methods: Serum levels of interleukin-6(IL-6), ET-1, α 1 -microglobulin(α 1 -m), β 2 -microglobulin(β 2 -m) and plasma level of ET-1 were determined with RIA, fibrinogen degradation product (FDP) with ELISA, automatic biochemistry analysis N-acetyl-β-D-glucosaminidase(NAG), CH 2 O was determined with physico-method respectively. Results: The concentrations of IL-6, ET-1, α 1 -m, β 2 -m, FDP, NAG were significantly decreased in cases of complete remission after therapy (P 2 O excepted (P>0.05), the decrease of IL-6, ET-1, α 1 -m, FDP were no significant in cases of invalid (P>0.05), the concentrations of renal tubule markers in cases of partial remission and invalid were higher than those in cases of complete and significant remission. Conclusion: The determination of several renal tubule markers can be used for diagnose, monitor and judge the therapeutic effects of PNS. (authors)

  15. Association of ACE and MDR1 Gene Polymorphisms with Steroid Resistance in Children with Idiopathic Nephrotic Syndrome.

    Science.gov (United States)

    Dhandapani, Mohanapriya Chinambedu; Venkatesan, Vettriselvi; Rengaswamy, Nammalwar Bollam; Gowrishankar, Kalpana; Nageswaran, Prahlad; Perumal, Venkatachalam

    2015-08-01

    The purpose of the study was to investigate the distribution of insertion/deletion (I/D) polymorphisms of the angiotensin-converting enzyme (ACE) gene and three exonic polymorphisms of the multidrug resistance 1 (MDR1) gene (C3435T, C1236T, and G2677T) in children diagnosed with idiopathic nephrotic syndrome (INS). The study group consisted of 100 healthy controls and 150 INS patients, of which 50 were steroid resistant. Genomic DNA from blood samples was isolated from both of these groups and genotyping of the ACE and MDR1 genes was performed by polymerase chain reaction (PCR) using specific primers. There was no significant difference observed in the genotypic distribution and D allele frequency of the ACE gene. The two single-nucleotide polymorphisms (SNPs), C1236T and C3435T, of the MDR1 gene showed no significance, whereas the SNP G2677T/A was significantly associated with the genotypes GT and GA of the MDR1 gene, indicating it may be a potential marker to detect drug resistance. Screening these polymorphisms will pave the way to better understand the molecular mechanisms of the disease, which may be useful in developing targeted therapies for INS patients.

  16. Impact of the 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene on primary nephrotic syndrome.

    Science.gov (United States)

    Luo, Yuezhong; Wang, Chao; Tu, Haitao

    2014-03-01

    The aim of the present study was to investigate whether the four guanosines (4G)/five guanosines (5G) polymorphism in the gene coding for plasminogen activator inhibitor-1 (PAI-1) affects the clinical features of primary nephrotic syndrome (PNS). A cohort of 200 biopsy-diagnosed PNS patients was studied, with 40 healthy subjects as controls. The PAI-1 gene polymorphism was detected by polymerase chain reaction and DNA sequencing. Associations between the PAI-1 4G/5G polymorphism and clinical features and pathological types of PNS were analyzed. The results indicated that the PAI-1 genotype distribution is significantly different between patients with PNS and healthy controls, with significantly higher numbers of the 4G/4G genotype and lower numbers of the 5G5G genotype detected in PNS patients compared to controls (both P5G genotypes, as well as of the 4G allele. The increased 4G frequency was also detected in patients with minimal change disease (MCD). Significantly increased international normalized ratio (INR) and prolonged activated partial thromboplastin time (APTT) were observed in 4G/4G compared to 5G/5G PNS subjects. The response to steroids was not significantly different among the three genotypes. In conclusion, the 4G allele of the PAI-1 gene appears to be associated with PNS, especially in MN and IgAN patients. These findings suggest that specific targeting may be required for the treatment of PNS patients with the 4G/4G genotype.

  17. DD genotype of ACE gene in boys: may it be a risk factor for minimal change nephrotic syndrome?

    Science.gov (United States)

    Alasehirli, Belgin; Balat, Ayşe; Büyükçelik, Mithat

    2012-01-01

    It has been shown that angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism affects the circulating and cellular levels of ACE and may be a risk factor in several renal diseases. We analyzed the association of ACE gene I/D polymorphism with the clinical presentation of minimal change nephrotic syndrome (MCNS) in a Turkish child population. This study consisted of 97 children with MCNS and 144 healthy controls. Genotyping of ACE gene was performed using polymerase chain reaction (PCR). The distributions of ACE genotypes were II in 13%, ID in 49%, and DD in 38% in patient group, and 9%, 49%, and 42% in control group, respectively. The frequency of the D allele was 63% and that of the I allele was 37% in patients. There were no relevant differences in the allele frequencies and genotypes of ACE I/D polymorphism between patients and controls. However, DD genotype was higher in boys in children with MCNS (78.4%. vs. 50.0%, p = 0.004). The frequencies of DD genotype and D allele in boys were 7.25 and 2.56 times higher than II genotype and I allele in the patient group, respectively. We suggest that DD genotype in boys may be one of the risk factors for MCNS.

  18. ACE I/D Gene Polymorphism Can't Predict the Steroid Responsiveness in Asian Children with Idiopathic Nephrotic Syndrome: A Meta-Analysis

    Science.gov (United States)

    Su, Li-Na; Lei, Feng-Ying; Huang, Wei-Fang; Zhao, Yan-Jun

    2011-01-01

    Background The results from the published studies on the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism and the treatment response to steroid in Asian children with idiopathic nephrotic syndrome (INS) is still conflicting. This meta-analysis was performed to evaluate the relation between ACE I/D gene polymorphism and treatment response to steroid in Asian children and to explore whether ACE D allele or DD genotype could become a predictive marker for steroid responsiveness. Methodology/Principal Findings Association studies were identified from the databases of PubMed, Embase, Cochrane Library and CBM-disc (China Biological Medicine Database) as of September 1, 2010, and eligible investigations were synthesized using meta-analysis method. Five investigations were identified for the analysis of association between ACE I/D gene polymorphism and steroid-resistant nephrotic syndrome (SRNS) risk in Asian children and seven studies were included to explore the relationship between ACE I/D gene polymorphism and steroid-sensitive nephrotic syndrome (SSNS) susceptibility. Five investigations were recruited to explore the difference of ACE I/D gene distribution between SRNS and SSNS. There was no a markedly association between D allele or DD genotype and SRNS susceptibility or SSNS risk, and the gene distribution differences of ACE between SRNS and SSNS were not statistically significant. II genotype might play a positive role against SRNS onset but not for SSNS (OR = 0.51, P = 0.02; OR = 0.95, P = 0.85; respectively), however, the result for the association of II genotype with SRNS risk was not stable. Conclusions/Significance Our results indicate that D allele or DD homozygous can't become a significant genetic molecular marker to predict the treatment response to steroid in Asian children with INS. PMID:21611163

  19. Abdominal complications in black and Indian children with nephrotic ...

    African Journals Online (AJOL)

    Abdominal complications were detected and investigated in 19 (10%) of 191 children with nephrotic syndrome who experienced 35 episodes of these complications. Fourteen children were Indian with steroid-responsive nephrotic syndrome, and 5 were black, of whom 4 had membranous nephropathy and 1 focal ...

  20. Acid-base disturbances in nephrotic syndrome: analysis using the CO2/HCO3 method (traditional Boston model) and the physicochemical method (Stewart model).

    Science.gov (United States)

    Kasagi, Tomomichi; Imai, Hirokazu; Miura, Naoto; Suzuki, Keisuke; Yoshino, Masabumi; Nobata, Hironobu; Nagai, Takuhito; Banno, Shogo

    2017-10-01

    The Stewart model for analyzing acid-base disturbances emphasizes serum albumin levels, which are ignored in the traditional Boston model. We compared data derived using the Stewart model to those using the Boston model in patients with nephrotic syndrome. Twenty-nine patients with nephrotic syndrome and six patients without urinary protein or acid-base disturbances provided blood and urine samples for analysis that included routine biochemical and arterial blood gas tests, plasma renin activity, and aldosterone. The total concentration of non-volatile weak acids (A TOT ), apparent strong ion difference (SIDa), effective strong ion difference (SIDe), and strong ion gap (SIG) were calculated according to the formulas of Agrafiotis in the Stewart model. According to the Boston model, 25 of 29 patients (90%) had alkalemia. Eighteen patients had respiratory alkalosis, 11 had metabolic alkalosis, and 4 had both conditions. Only three patients had hyperreninemic hyperaldosteronism. The Stewart model demonstrated respiratory alkalosis based on decreased PaCO 2 , metabolic alkalosis based on decreased A TOT , and metabolic acidosis based on decreased SIDa. We could diagnose metabolic alkalosis or acidosis with a normal anion gap after comparing delta A TOT [(14.09 - measured A TOT ) or (11.77 - 2.64 × Alb (g/dL))] and delta SIDa [(42.7 - measured SIDa) or (42.7 - (Na + K - Cl)]). We could also identify metabolic acidosis with an increased anion gap using SIG > 7.0 (SIG = 0.9463 × corrected anion gap-8.1956). Patients with nephrotic syndrome had primary respiratory alkalosis, decreased A TOT due to hypoalbuminemia (power to metabolic alkalosis), and decreased levels of SIDa (power to metabolic acidosis). We could detect metabolic acidosis with an increased anion gap by calculating SIG. The Stewart model in combination with the Boston model facilitates the analysis of complex acid-base disturbances in nephrotic syndrome.

  1. Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

    OpenAIRE

    Fonseca, Luis Vazquez; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo

    2018-01-01

    Abstract Mutations in COQ8B cause steroid‐resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can complement a ΔCOQ8 yeast strain when its mitochondrial targeting sequenc...

  2. Angiotensin-converting enzyme genotype is not a significant genetic risk factor for idiopathic nephrotic syndrome in Croatian children.

    Science.gov (United States)

    Batinić, Danko; Sertić, Jadranka; Ćorić, Marijana; Konjevoda, Paško; Batinić, Danica; Milošević, Danko

    2015-01-01

    The association of the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism with idiopathic nephrotic syndrome (INS) is controversial. Only scarce information on European populations is available. The aim of the study was to investigate the distribution of the ACE gene I/D polymorphism and its impact on INS in children from Croatia. Ninety-five children with INS were investigated: 30 with minimal change disease (MCD), 35 with mesangial proliferative glomerulonephritis (MesPGN) and 30 with focal segmental glomerulosclerosis (FSGS). The control group consisted of 73 healthy adults. ACE gene was analyzed using the PCR method. The results were correlated with clinical features, renal morphology and response to immunosuppresive therapy. There was no correlation of ACE genotype with gender, age of the disease onset, level of proteinuria, presence of hematuria or hypertension, and GFR at onset of the disease. No statistically significant differences in ACE genotype or allele frequencies between the controls and whole group of patients, MCD group, MesPGN group, FSGS group, steroid sensitive (SS) patients, steroid resistant (SR) patients, as well as each other, were found, although DD genotype tended to be more frequent in FSGS patients, SR patients, and frequent relapsers. Among 11 children treated with cyclophosphamide the D allele was significantly higher among non-responders (p = 0.003). DD genotype is not a genetic risk factor for acquiring INS nor significant phenotype modifier regarding to clinical and pathohistological picture and response to steroids in Croatian children. The potential application of ACE genotyping in predicting cyclophosphamide response deserves further investigation. © 2015 S. Karger AG, Basel.

  3. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

    Science.gov (United States)

    Santín, Sheila; Tazón-Vega, Bárbara; Silva, Irene; Cobo, María Ángeles; Giménez, Isabel; Ruíz, Patricia; García-Maset, Rafael; Ballarín, José; Torra, Roser; Ars, Elisabet

    2011-02-01

    To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. Mutation analysis was performed in 148 unrelated Spanish patients, of whom 50 presented with FSGS after 18 years of age. Pathogenicity of amino acid substitutions was evaluated through an in silico scoring system. Haplotype analysis was carried out using NPHS2 single nucleotide polymorphism and microsatellite markers. Compound heterozygous or homozygous NPHS2 pathogenic mutations were identified in seven childhood-onset steroid-resistant nephrotic syndrome (SRNS) cases. Six additional cases with late childhood- and adult-onset SRNS were compound heterozygotes for p.R229Q and one pathogenic mutation, mostly p.A284V. p.R229Q was more frequent among SRNS cases relative to controls (odds ratio=2.65; P=0.02). Significantly higher age at onset of the disease and slower progression to ESRD were found in patients with one pathogenic mutation plus the p.R229Q variant in respect to patients with two NPHS2 pathogenic mutations. NPHS2 analysis has a clinical value in both childhood- and adult-onset SRNS patients. For adult-onset patients, the first step should be screening for p.R229Q and, if positive, for p.A284V. These alleles are present in conserved haplotypes, suggesting a common origin for these substitutions. Patients carrying this specific NPHS2 allele combination did not respond to corticoids or immunosuppressors and showed FSGS, average 8-year progression to ESRD, and low risk for recurrence of FSGS after kidney transplant.

  4. Clinical Features and Long-Term Outcome of Nephrotic Syndrome Associated with Heterozygous NPHS1 and NPHS2 Mutations

    Science.gov (United States)

    Caridi, Gianluca; Gigante, Maddalena; Ravani, Pietro; Trivelli, Antonella; Barbano, Giancarlo; Scolari, Francesco; Dagnino, Monica; Murer, Luisa; Murtas, Corrado; Edefonti, Alberto; Allegri, Landino; Amore, Alessandro; Coppo, Rosanna; Emma, Francesco; De Palo, Tommaso; Penza, Rosa; Gesualdo, Loreto; Ghiggeri, Gian Marco

    2009-01-01

    Background and objectives: Mutations in nephrin (NPHS1) and podocin (NPHS2) genes represent a major cause of idiopathic nephrotic syndrome (NS) in children. It is not yet clear whether the presence of a single mutation acts as a modifier of the clinical course of NS. Design, setting, participants, & measurements: We reviewed the clinical features of 40 patients with NS associated with heterozygous mutations or variants in NPHS1 (n = 7) or NPHS2 (n = 33). Long-term renal survival probabilities were compared with those of a concurrent cohort with idiopathic NS. Results: Patients with a single mutation in NPHS1 received a diagnosis before those with potentially nongenetic NS and had a good response to therapies. Renal function was normal in all cases. For NPHS2, six patients had single heterozygous mutations, six had a p.P20L variant, and 21 had a p.R229Q variant. Age at diagnosis and the response to drugs were comparable in all NS subgroups. Overall, they had similar renal survival probabilities as non-NPHS1/NPHS2 cases (log-rank χ2 0.84, P = 0.656) that decreased in presence of resistance to therapy (P < 0.001) and in cases with renal lesions of glomerulosclerosis and IgM deposition (P < 0.001). Cox regression confirmed that the only significant predictor of dialysis was resistance to therapy. Conclusions: Our data indicate that single mutation or variant in NPHS1 and NPHS2 does not modify the outcome of primary NS. These patients should be treated following consolidated schemes and have good chances for a good long-term outcome. PMID:19406966

  5. Cerebral sinovenous thrombosis in a nephrotic child

    Directory of Open Access Journals (Sweden)

    Rodrigues Marcelo Masruha

    2003-01-01

    Full Text Available Nephrotic syndrome in infancy and childhood is known to be associated with a hypercoagulable state and thromboembolic complications, but cerebral sinovenous thrombosis (CST is a very rare and serious one, with only a few isolated reports in the literature. A case is presented of a 9-year-old boy with nephrotic syndrome that acutely developed signs and symptoms of intracranial hypertension syndrome. CST was diagnosed on cranial CT and MRI and he gradually recovered after treatment with anticoagulants. The diagnosis of CST should be considered in any patient with nephrotic syndrome who develops neurologic symptoms. The discussion of this case, coupled with a review of the literature, emphasizes that early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. This report also illustrates the difficulties that may be encountered in managing such a patient.

  6. Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach.

    Science.gov (United States)

    Tabassum, Asra; Rajeshwari, Tadigadapa; Soni, Nidhi; Raju, D S B; Yadav, Mukesh; Nayarisseri, Anuraj; Jahan, Parveen

    2014-03-01

    Non-synonymous single nucleotide changes (nSNC) are coding variants that introduce amino acid changes in their corresponding proteins. They can affect protein function; they are believed to have the largest impact on human health compared with SNCs in other regions of the genome. Such a sequence alteration directly affects their structural stability through conformational changes. Presence of these conformational changes near catalytic site or active site may alter protein function and as a consequence receptor-ligand complex interactions. The present investigation includes assessment of human podocin mutations (G92C, P118L, R138Q, and D160G) on its structure. Podocin is an important glomerular integral membrane protein thought to play a key role in steroid resistant nephrotic syndrome. Podocin has a hairpin like structure with 383 amino acids, it is an integral protein homologous to stomatin, and acts as a molecular link in a stretch-sensitive system. We modeled 3D structure of podocin by means of Modeller and validated via PROCHECK to get a Ramachandran plot (88.5% in most favored region), main chain, side chain, bad contacts, gauche and pooled standard deviation. Further, a protein engineering tool Triton was used to induce mutagenesis corresponding to four variants G92C, P118L, R138Q and D160G in the wild type. Perusal of energies of wild and mutated type of podocin structures confirmed that mutated structures were thermodynamically more stable than wild type and therefore biological events favored synthesis of mutated forms of podocin than wild type. As a conclusive part, two mutations G92C (-8179.272 kJ/mol) and P118L (-8136.685 kJ/mol) are more stable and probable to take place in podocin structure over wild podocin structure (-8105.622 kJ/mol). Though there is lesser difference in mutated and wild type (approximately, 74 and 35 kJ/mol), it may play a crucial role in deciding why mutations are favored and occur at the genetic level.

  7. [Expression of glomerular heparan sulfate domains in pediatric patients with minimal change nephrotic syndrome].

    Science.gov (United States)

    Dong, Li-Qun; Wang, Zheng; Yu, Ping; Guo, Yan-Nan; Wu, Jin; Feng, Shi-Pin; Li, Sha

    2009-01-01

    To investigate the expression of glomerular heparin sulfate (HS) in paediatric patients with minimal change nephritic syndrome (MCNS). The kidyney tissues were collected by biopsy from 13 paediatric patients with MCNS, while 5 normal renal biopsy samples were used as control. HS in glomeruli was analysed by indirect immunofluorescence staining using four different monoclonal antibodies, Hepss1, 3G10, JM403 and 10E4, which all recognize distinct HS species and each interacts with a specific HS domain. The concentrations of urine heparan sulfate also were measured by enzyme-linked immunosorbent assay (Elisa). Expression of HS fine domains was aberrant in paediatric patients compared with control subjects. Children with MCNS in replase showed a decreased glomerular expression of 10E4, JM403 and Hepss1 (P peadiatric patients with MCNS when compared with that in control subjects (P < 0.01). These results suggest that loss of heparan sulphate in renal tissue may play a role in the pathogenesis of MCNS proteinuria.

  8. [Effect of Low Molecular Weight Heparin Calcium Combined Compound Danshen Injection on Perinatal Outcomes of Nephrotic Syndrome Patients with Early Onset Severe Pre-eclampsia].

    Science.gov (United States)

    Tong, Chong-xin; Xing, Xiao-fen; Qiao, Shu-hua; Liu, Lin; Shan, Ling

    2015-08-01

    To observe the effect of low molecular weight heparin calcium (LMWHC) combined Compound Danshen Injection (DI) on nephrotic syndrome patients with early onset severe preeclampsia. Totally 80 nephrotic syndrome patients with early onset severe pre-eclampsia were randomly assigned to four groups voluntarily, i.e., Group A (22 cases, treated by magnesium sulfate), B (19 cases, treated by magnesium sulfate plus LMWHC), C (21 cases, magnesium sulfate plus DI), D (18 cases, magnesium sulfate plus LMWHC and DI). Umbilical arterial S/D ratios, amniotic fluid index (AFI), prolonged gestational age, placenta weight, neonatal weight, and Apgar score were compared among the four groups. Compared with before treatment in the same group, umbilical arterial S/D ratios decreased in the four groups (P <0. 05). AFI decreased in Group A, while it increased in Group B, C, and D (P<0. 05). Compared with Group A at the same time point, umbilical arterial S/D ratios decreased, and AFI increased in Group B, C, and D (P <0. 01 , P <0. 05). Prolonged gestational age and neonatal weight were increased in Group B, C, and D (P <0. 01, P <0. 05). Placenta weight were increased in Group B and D (P <0. 05). Apgar scores at 1 and 5 min were improved in Group D (P <0. 05). Compared with Group B and C at the same time point, umbilical arterial S/D ratios decreased, and AFI increased in Group D (P<0. 05). Compared with Group B, prolonged gestational age and placenta weight were decreased in Group C, but prolonged gestational age and placenta weight were increased in Group D (P <0.05). Compared with Group C, prolonged gestational age, placenta weight, and neonatal weight were increased in Group D (P <0. 05). Treatment of nephrotic syndrome patients with early onset severe pre-eclampsia by LMWHC combined DI could prolong gestational ages, obviously improve prenatal outcomes, with better effect obtained than using any of them alone.

  9. Increased VLDL in nephrotic patients results from a decreased catabolism while increased LDL results from increased synthesis

    NARCIS (Netherlands)

    de Sain-van der Velden, M; Kaysen, GA; Barrett, HA; Stellaard, F; Gadellaa, MM; Voorbij, HA; Reijngoud, DJ; Rabelink, TJ

    Increased very low density lipoprotein (VLDL) in nephrotic patients results from a decreased catabolism while increased low density lipoprotein (LDL) results from increased synthesis. Hyperlipidemias a hallmark of nephrotic syndrome that has been associated with increased risk for ischemic heart

  10. A case of rheumatic fever with acute post-streptococcal glomerulonephritis and nephrotic syndrome caused by a cutaneous infection with beta-hemolytic streptococci

    Directory of Open Access Journals (Sweden)

    Carsten Sauer Mikkelsen

    2010-01-01

    Full Text Available A middle-aged patient of Greenlandic origin was referred for skin infection of the leg. An initial minor trauma of the skin of the distal right lower extremity was complicated by bullous erysipelas which cultured positive for group A β-hemolytic streptococci (GABHS. The clinical condition deteriorated and necrotizing fasciitis developed despite relevant surgical and antibiotic treatment. Approximately 3 weeks later, the patient developed arthralgia, impaired renal function with azotemia, hypertension and severe nephrotic syndrome with periorbital and peripheral edema. A kidney biopsy demonstrated endocapillary glomerulonephritis. Concomitantly, carditis with chest pain, moderately reduced left ventricular ejection fraction and mitral regurgitation were noted. The patient had no signs of pharyngitis in the whole period. The patient thus contracted poststreptococ glomerulonephritis and furthermore she fulfilled the criteria of acute rheumatic fever following a GABHS skin infection. We suggest a possible relation between a virulent GABHS clone causing NF and ARF.

  11. Acute kidney injury in idiopathic nephrotic syndrome of childhood is a major risk factor for the development of chronic kidney disease.

    Science.gov (United States)

    Yaseen, Afshan; Tresa, Vina; Lanewala, Ali Asghar; Hashmi, Seema; Ali, Irshad; Khatri, Sabeeta; Mubarak, Muhammed

    2017-11-01

    Acute kidney injury (AKI) is an important complication of idiopathic nephrotic syndrome (INS) and is associated with adverse outcomes, especially the development of chronic kidney disease (CKD). We aimed to determine the clinical profile of children with INS who developed AKI and its short-term outcome. This prospective study was conducted from March 2014 to October 2015. A total of 119 children of INS (age: 2-18 years) fulfilling the pediatric RIFLE criteria for the diagnosis of AKI were enrolled and followed up for 3 months to determine the outcome. Factors predisposing to CKD were studied. The mean age at presentation was 8.8 ± 3.59 years and males were 74 (62.2%). At presentation, 61 (51.3%) children were in Risk category, 43 (36.1%) in Injury category, and 15 (12.6%) in Failure category. Most of them (41.2%) had steroid-resistant nephrotic syndrome (SRNS) and focal segmental glomerulosclerosis (FSGS) on histopathology (33.6%). Infections were the major predisposing factor for AKI in 67 (56.3%) cases. Drug toxicity was the next common, found in 52 (43.7%) children. A total of 65 (54.6%) children recovered from AKI, while 54 (45.4%) did not. CKD developed in 49 (41.2%) non-recovered cases and 5 (4.2%) children succumbed to acute illness. SRNS, cyclosporine use, FSGS on histology, and drug toxicity were significant factors associated with the development of CKD. AKI associated with INS is a reversible condition in most cases but it can progress to CKD, especially among those who have SRNS, FSGS, and drug toxicity.

  12. Nephrotic Syndrome in Adults

    Science.gov (United States)

    ... Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información ... Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información ...

  13. Childhood Nephrotic Syndrome

    Science.gov (United States)

    ... or technician places a strip of chemically treated paper, called a dipstick, into the child’s urine sample. Patches on the dipstick change color when albumin is present in urine. Urine albumin-to-creatinine ...

  14. [Spectrum and drug sensitivity of pathogenic bacteria in children with nephrotic syndrome complicated by urinary tract infection: an analysis of 97 cases].

    Science.gov (United States)

    Song, Shao-Na; Zhang, Bi-Li; Wang, Wen-Hong; Zhang, Xuan

    2012-09-01

    To investigate the spectrum and drug sensitivity of pathogenic bacteria in children with nephrotic syndrome (NS) complicated by urinary tract infection (UTI). A retrospective analysis was performed on the spectrum and drug sensitivity of pathogenic bacteria in 97 children with NS complicated by UTI, who hospitalized from January to December, 2011. The incidence of UTI in children with NS was 36.5%. It was significantly more common in children with recurrent NS than in those with primary NS (44.0% vs 31.9%; Ppathogenic bacteria (50.5%), including Enterococcus faecium (29.4%) and Enterococcus faecalis (21.1%), followed by Gram-negative bacteria, such as Escherichia coli (15.6%) and Klebsiella pneumoniae (14.7%). Enterococcus was highly sensitive to nitrofurantoin, vacomycin and linezolid, but was highly resistant to tetracycline and moxifloxacin. More multi-resistant strains were detected in Enterococcus faecium than in Enterococcus faecalis (72% vs 17%; Pbacteria, 25% produced extended spectrum β-lactamases (ESBLs). ESBLs-producing bacteria had 100% sensitivity to imipenem, amikacin and piperacillin/tazobactam but were highly resistant to ampicillin, cefazolin and ceftriaxone. Children with recurrent NS are more susceptible to UTI than those with primary NS. Enterococcus is becoming major pathogenic bacteria for UTI in children with NS and has relatively high drug resistance, and most strains of Enterococcus faecium are multi-resistant.

  15. Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function

    Science.gov (United States)

    Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva

    2017-01-01

    Abstract Mutations in COQ8B cause steroid‐resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can complement a ΔCOQ8 yeast strain when its mitochondrial targeting sequence (MTS) is replaced by a yeast MTS. This model was employed to validate COQ8B mutations, and to establish genotype–phenotype correlations. All mutations affected respiratory growth, but there was no correlation between mutation type and the severity of the phenotype. In fact, contrary to the case of COQ2, where residual CoQ biosynthesis correlates with clinical severity, patients harboring hypomorphic COQ8B alleles did not display a different phenotype compared with those with null mutations. These data also suggest that the system is redundant, and that other proteins (probably COQ8A) may partially compensate for the absence of COQ8B. Finally, a COQ8B polymorphism, present in 50% of the European population (NM_024876.3:c.521A > G, p.His174Arg), affects stability of the protein and could represent a risk factor for secondary CoQ deficiencies or for other complex traits. PMID:29194833

  16. Urinary IgG and α2-Macroglobulin Are Powerful Predictors of Outcome and Responsiveness to Steroids and Cyclophosphamide in Idiopathic Focal Segmental Glomerulosclerosis with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Claudio Bazzi

    2013-01-01

    Full Text Available Objective. To assess whether high-molecular-weight proteins excretion predicts outcome and therapy-responsiveness in patients with FSGS and nephrotic syndrome. Research Design and Methods. Thirty-eight patients measured at biopsy fractional excretion of IgG (FEIgG and urinary α2-macroglobulin/creatinine ratio (α2m/C. Low and high risk groups were defined by cutoffs assessed by ROC analysis. In all patients first-line therapy was with steroids alone or in combination with cyclophosphamide. Results. α2m/C and FEIgG were correlated with segmental sclerosis (r=0.546; r=0.522. Twenty-three patients (61% entered Remission and 9 (24% progressed to ESRD. Comparing low and high risk groups, by univariate analysis remission was predicted by FEIgG (77% versus 25%, P=0.016 and α2m/C (81% versus 17%, P=0.007 and ESRD at best by FEIgG (0% versus 75%, P<0.0001 and α2m/C (4% versus 67%, P<0.0001. By multivariate analysis FEIgG was the only independent predictor of remission and α2m/C the most powerful predictor of ESRD. Low and high risk groups of FEIgG and α2m/C in combination had very high predictive value of sustained remission and ESRD in response to therapy. Conclusions. FEIgG and α2m/C are powerful predictors of outcome and responsiveness to steroids and cyclophosphamide; their predictive value, if validated in prospective studies, may be useful in clinical practice suggesting first-line alternative treatments in high risk patients.

  17. Hipotiroidismo, miocardiopatía dilatada y síndrome nefrótico durante el embarazo Hypothyroidism, dilated cardiomyopathy and nephrotic syndrome during pregnancy

    Directory of Open Access Journals (Sweden)

    Ariel K. Saad

    2011-02-01

    Full Text Available El hipotiroidismo en el embarazo es infrecuente, pero cuando ocurre suele asociarse con complicaciones maternas y fetales. Se presenta el caso de una mujer joven sin antecedentes de enfermedad cardiovascular que consulta por ortopnea, dolor torácico y edema de miembros inferiores. Los exámenes pusieron en evidencia la existencia de insuficiencia cardíaca, hipotiroidismo, síndrome nefrótico e insuficiencia renal. El eco-Doppler mostró dilatación de las cuatro cavidades cardíacas con deterioro grave de la función sistólica. El tratamiento con levotiroxina por vía intravenosa mejoró el cuadro clínico y los parámetros de laboratorio. Se analizan los efectos de la hormona tiroidea sobre el aparato cardiovascular y se comentan los mecanismos fisiopatológicos de la insuficiencia cardíaca en el embarazo.Hypothyroidism during pregnancy is infrequent, but its presence is associated with maternal and fetal complications. We present the case of a young pregnant woman with no previous history of cardiovascular disease, who consulted for orthopnea, chest pain and edema in both legs. Laboratory tests demonstrated a hypothyroid condition and a nephrotic syndrome with renal failure. The echo-Doppler exam showed a four chamber dilatation with systolic dysfunction. Treatment with intravenous levothyroxine improved her medical condition. We analyze the effects of thyroid hormone on the heart and vascular system and discuss the pathophysiologic mechanisms of heart failure during pregnancy.

  18. Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

    Science.gov (United States)

    Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo

    2018-03-01

    Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can complement a ΔCOQ8 yeast strain when its mitochondrial targeting sequence (MTS) is replaced by a yeast MTS. This model was employed to validate COQ8B mutations, and to establish genotype-phenotype correlations. All mutations affected respiratory growth, but there was no correlation between mutation type and the severity of the phenotype. In fact, contrary to the case of COQ2, where residual CoQ biosynthesis correlates with clinical severity, patients harboring hypomorphic COQ8B alleles did not display a different phenotype compared with those with null mutations. These data also suggest that the system is redundant, and that other proteins (probably COQ8A) may partially compensate for the absence of COQ8B. Finally, a COQ8B polymorphism, present in 50% of the European population (NM_024876.3:c.521A > G, p.His174Arg), affects stability of the protein and could represent a risk factor for secondary CoQ deficiencies or for other complex traits. © 2017 The Authors. Human Mutation published by Wiley Periodicals, Inc.

  19. Serum lipid profile abnormalities among patients with nephrotic ...

    African Journals Online (AJOL)

    McRoy

    nephrotic syndrome. Adu E.M. Department of Laboratory Services, Antiretroviral Treatment Centre, Central Hospital, Agbor, Delta. State ... without any clinical and laboratory findings of renal dysfunction, hypertension or systemic ... was allowed to clot and spun in a centrifuge for. 10 minutes. The serum was separated and.

  20. Abdotninal cotnplications in black and Indian children with nephrotic ...

    African Journals Online (AJOL)

    nephrotic syndrome, are infection, hypovolaemia and thrombotic complications.I The survival rate of nephro- tic children was only 33% in the 1940s and it has been stated that penicillin has done more for the survival ... \\vith similar abdominal signs and symptoms; therefore the differentiation of peritonitis from hypovolaemia ...

  1. Acute glomerulonephritis mimicking nephrotic syndrome

    African Journals Online (AJOL)

    2016-01-04

    Jan 4, 2016 ... 0.3 cases per 100,000 person/ year.5 Thus, it is a disease of underdeveloped and ... The typical clinical presentation of PSGN which is a representative of a ... onset of microscopic haematuria, oedema, hypertension, oliguria ...

  2. Síndrome nefrótica córtico-sensível e diabetes mellitus tipo 1 de início simultâneo Simultaneous onset of steroid-sensitive nephrotic syndrome and type 1 diabetes

    Directory of Open Access Journals (Sweden)

    Eduardo A. Rego Filho

    2003-11-01

    with steroid-sensitive nephrotic syndrome coexisting with type-1 diabetes mellitus. The interest to this clinical case is due to the unusual association of these diseases, the clinical symptoms and laboratory tests used to confirm diagnosis and the difficulties on corticotherapy. DESCRIPTION: Nephrotic syndrome was diagnosed in a boy (age 3 years and 11 months with generalized edema. Marked weight loss (23 to 16 kg, polyuria, polydipsia and weakness were observed after three weeks of treatment with prednisone 2 mg/kg/day. Diabetic ketoacidosis was confirmed by laboratory tests: hyperglycemia (glucose 657 mg/dl, glycosuria without proteinuria, acidosis and ketonuria. Therapy with insulin and prednisone was started. He was then maintained on a daily dose of NPH insulin. At age 4 years and 1 month a new episode of ketoacidosis without proteinuria occurred in association with a viral infection of the upper airways. At age 4 years and 4 months nephrotic syndrome relapsed, but the child responded well to steroid therapy. There was another relapse three months later, when prednisone treatment was interrupted. This led to the introduction of cyclophosphamide, with good results. Since then, the patient (now 5 years and 6 months old has been taking insulin daily and nephrotic syndrome has not relapsed. Plasma levels of C3 and C4 and renal function are normal. Hematuria is occasionally present. Anti-GAD antibodies (glutamic decarboxilase are normal and anti-islet cell antibodies are positive. HLA antigens: A2; B44; B52; DR4; DR8; DR53. COMMENTS: The simultaneous occurrence of steroid-sensitive nephrotic syndrome and type-1 diabetes mellitus is rare. The literature data, the familiar pattern and studies on HLA antigens are discussed.

  3. Differentiation of reversible ischemia from end-stage renal failure in nephrotic children with 131I-hippurate dynamic scintigraphy

    International Nuclear Information System (INIS)

    Hattner, R.S.; Maltz, H.E.; Holliday, M.A.

    1977-01-01

    In renal failure associated with the nephrotic syndrome, therapeutic strategy is highly dependent upon the cause of the renal failure. Dynamic hippurate scintigraphy was studied in five pediatric patients. Four had nephrotic syndrome, and of these, three had acute renal failure. The fifth patient had end-stage renal failure. Specific alteration in renal hippurate kinetics offers a noninvasive assessment of renal failure in this clinical setting

  4. Effect of two prophylactic bolus vitamin D dosing regimens (1000 IU/day vs. 400 IU/day) on bone mineral content in new-onset and infrequently-relapsing nephrotic syndrome: a randomised clinical trial.

    Science.gov (United States)

    Muske, Sravani; Krishnamurthy, Sriram; Kamalanathan, Sadish Kumar; Rajappa, Medha; Harichandrakumar, K T; Sivamurukan, Palanisamy

    2018-02-01

    To examine the efficacy of two vitamin D dosages (1000 vs. 400 IU/day) for osteoprotection in children with new-onset and infrequently-relapsing nephrotic syndrome (IFRNS) receiving corticosteroids. This parallel-group, open label, randomised clinical trial enrolled 92 children with new-onset nephrotic syndrome (NS) (n = 28) or IFRNS (n = 64) to receive 1000 IU/day (Group A, n = 46) or 400 IU/day (Group B, n = 46) vitamin D (administered as a single bolus initial supplemental dose) by block randomisation in a 1:1 allocation ratio. In Group A, vitamin D (cholecalciferol in a Calcirol® sachet) was administered in a single stat dose of 84,000 IU on Day 1 of steroid therapy (for new-onset NS), calculated for a period of 12 weeks@1000 IU/day) and 42,000 IU on Day 1 of steroid therapy (for IFRNS, calculated for a period of 6 weeks@1000 IU/day). In Group B, vitamin D (cholecalciferol in a Calcirol® sachet) was administered as a single stat dose of 33,600 IU on Day 1 of steroid therapy (for new-onset NS, calculated for a period of 12 weeks@400 IU/day) and 16,800 IU on Day 1 of steroid therapy (for IFRNS, calculated for a period of 6 weeks@400 IU/day). The proportionate change in bone mineral content (BMC) was analysed in both groups after vitamin D supplementation. Of the 92 children enrolled, 84 (n = 42 new onset, n = 42 IFRNS) completed the study and were included in the final analysis. Baseline characteristics including initial BMC, bone mineral density, cumulative prednisolone dosage and serum 25-hydroxycholecalciferol levels were comparable in the two groups. There was a greater median proportionate change in BMC in the children who received 1000 IU/day vitamin D (3.25%, IQR -1.2 to 12.4) than in those who received 400 IU/day vitamin D (1.2%, IQR -2.5 to 3.8, p = 0.048). The difference in proportionate change in BMC was only statistically significant in the combined new-onset and IFRNS, but not for IFRNS alone. There was a greater

  5. APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts.

    Science.gov (United States)

    Ng, Derek K; Robertson, Catherine C; Woroniecki, Robert P; Limou, Sophie; Gillies, Christopher E; Reidy, Kimberly J; Winkler, Cheryl A; Hingorani, Sangeeta; Gibson, Keisha L; Hjorten, Rebecca; Sethna, Christine B; Kopp, Jeffrey B; Moxey-Mims, Marva; Furth, Susan L; Warady, Bradley A; Kretzler, Matthias; Sedor, John R; Kaskel, Frederick J; Sampson, Matthew G

    2017-06-01

    Individuals of African ancestry harboring two variant alleles within apolipoprotein L1 ( APOL1 ) are classified with a high-risk (HR) genotype. Adults with an HR genotype have increased risk of focal segmental glomerulosclerosis and chronic kidney disease compared with those with a low-risk (LR) genotype (0 or 1 variants). The role of APOL1 risk genotypes in children with glomerular disease is less well known. This study characterized 104 African-American children with a glomerular disease by APOL1 genotype in two cohorts: the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE). Among these subjects, 46% had an HR genotype with a similar age at cohort enrollment. For APOL1 HR children, the median age of disease onset was older (CKiD: 4.5 versus 11.5 years for LR versus HR; NEPTUNE: 11 versus 14 years for LR versus HR, respectively) and preterm birth was more common [CKiD: 27 versus 4%; NEPTUNE: 26 versus 12%; combined odds ratio 4.6 (95% confidence interval: 1.4, 15.5)]. Within studies, HR children had lower initial estimated glomerular filtration rate (eGFR) (CKiD: 53 versus 69 mL/min/1.73 m 2 ; NEPTUNE: 74 versus 94 mL/min/1.73 m 2 ). Longitudinal eGFR decline was faster among HR children versus LR (CKiD: -18 versus -8% per year; NEPTUNE: -13 versus -3% per year). Children with an HR genotype in CKiD and NEPTUNE seem to have a more aggressive form of glomerular disease, in part due to a higher prevalence of focal segmental glomerulosclerosis. These consistent findings across independent cohorts suggest a common natural history for children with APOL1 -associated glomerular disease. Further study is needed to determine the generalizability of these findings. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  6. Reduced activity of 11beta-hydroxysteroid dehydrogenase type 2 is not responsible for sodium retention in nephrotic rats

    DEFF Research Database (Denmark)

    Bistrup, C; Thiesson, H C; Jensen, B L

    2005-01-01

    AIM: In mineralocorticoid target cells 11-beta-hydroxysteroid dehydrogenase type 2 (11betaHSD2) converts glucocorticoids into non-active metabolites thereby protecting the mineralocorticoid receptor (MR) from stimulation by glucocorticoids. In nephrotic syndrome, a decreased activity of 11betaHSD2...... has been suggested to allow glucocorticoids to stimulate MR, thereby contributing to sodium retention. We tested this hypothesis in the puromycin aminonucleoside model of nephrotic syndrome in rats. METHODS: Complete sodium and potassium intakes and excretions (faeces and urine) were measured in rats......)] to suppress endogenous glucocorticoids in the proteinuric stage during active sodium retention. RESULTS: Nephrotic rats developed proteinuria, positive sodium balance, decreased plasma aldosterone concentration, and decreased urinary Na(+)/K(+) ratio. 11betaHSD2 mRNA expression was down-regulated but protein...

  7. Idiopathic nephrotic syndrome in South African children.

    African Journals Online (AJOL)

    The majority (68.1%) of the 163 children were of the black racial group. The highest ... segmental glomerulosclerosis (FSGS), and the white race had the highest rate (9/14; 64.3%) of minimal change disease (MCD). ..... reported from India (11.4%), Turkey (17%) and the US. (25%) ... The authors declare no conflict of interest.

  8. Congenital nephrotic syndrome: A diagnostic and management ...

    African Journals Online (AJOL)

    viz. syphilis, hepatitis B and C and rubella were negative. Due to lack of resources ... (personal communication, Adhikari). It is, however, possible that .... Benfield MR, McDonald RA, Bartosh S, Ho PL, Harmon W. Changing trends in pediatric ...

  9. Cyclosporin in steroid- resistant nephrotic syndrome

    African Journals Online (AJOL)

    1994-11-11

    Nov 11, 1994 ... steroid-unresponsive and alternative therapies therefore need to be assessed. ..... glomerular sclerosis. No vascular or tubular epithelial lesions ... acute tubular necrosis, and probable cyclosporin toxicity. No renal biopsy ...

  10. Glucocorticoid-induced osteoporosis in the lumbar spine, forearm, and mandible of nephrotic patients

    DEFF Research Database (Denmark)

    Olgaard, K; Storm, Tina; van Wowern, N

    1992-01-01

    /day and tapered down to 20 mg/day for 1 year and DFZ was given in an equipotent dosage. Twenty-three patients completed 6 months of treatment, and 18 patients completed 12 months of treatment. Beside laboratory parameters to ensure the effect of treatment on the nephrotic syndrome, all had measurements......The long-term effects of high dose steroid treatment with either prednisone (PDN) or deflazacort (DFZ) were examined on various parts of the skeleton in 29 patients with nephrotic syndrome. All had normal skeleton at the start of the steroid treatment. At the beginning, PDN was given as 80 mg...... of the bone mineral content (BMC) at 0, 6, and 12 months of treatment. BMC was measured by single photon absorptiometry of both forearms and by dual photon absorptiometry of the mandible, forearms, and lumbar spine. The effect of DFZ was compared to that of PDN due to a potential "calcium sparing" effect...

  11. Serum erythropoietin level in anemic and non-anemic nephrotic children with normal kidney functions

    International Nuclear Information System (INIS)

    Moustafa, A.M.E.; Moawad, A.T.; Gad, A.A.; Ahmed, S.M.

    2005-01-01

    Nephrotic syndrome (NS) is associated with a significant alteration in protein metabolism. While lowering the concentration of certain proteins, the disease often raises the level of certain other proteins. The current study aimed to investigate the serum erythropoietin (EPO) levels in children with NS either anemic or non-anemic and to compare them to children with iron deficiency anemia (IDA) and healthy controls with normal hemoglobin level (NHB). Sixteen nephrotic children with anemia (NS-A) and 15 nephrotic children with normal hemoglobin level (NS-NHB) were examined and compared with 10 children with iron deficiency anemia (IDA) and 10 healthy controls (NHB). Circulating serum EPO levels, blood indices and iron status were measured in nephrotic patients with anemia (NS-A) and compared to those nephrotic patients with normal HE (NS-NHB). Most NS-A children were steroid resistant. The NS-A children showed greater EPO levels than those without anemia (21.01 ±4.02 mlU/ml versus 9.18 ± 0.79 mlU/ml; P < 0.001) but their response to treatment of anemia was inappropriately low when compared to IDA (EPO 96.9 ±4.9 mlU/ml) despite similar HB concentration. A significant positive correlation was observed between serum EPO and serum albumin in NS-A (r = 0.84, P < 0.001) and in NS-NHB group (r = 0.89, P < 0.001). Moreover, a significant positive correlation was observed between serum EPO and HB in the nephrotic groups indicating a blunted EPO response to anemia in NS-A (r 0.63, P < 0.05) and in NS-NHB group (r = 0.80, P < 0.001). In conclusion, anemia is a common feature of NS and is present even before the worsening of kidney function. Depletion of the iron stores due to loss of iron and transferrin in urine due to massive proteinurea may contribute to the development of anemia, but it was found that iron replacement was ineffective alone

  12. Are oxidized low-density lipoprotein and C-reactive protein markers of atherosclerosis in nephrotic children?

    OpenAIRE

    Rybi-Szumińska, A.; Wasilewska, A.; Michaluk-Skutnik, J.; Osipiuk-Remża, B.; Fiłonowicz, R.; Zając, M.

    2014-01-01

    Background Lipid disorders are known to be linked to disturbance in oxidative reactions and play an important role in the progression and complications of idiopathic nephrotic syndrome (INS). Aims The aim of this study was to assess oxidized low-density lipoprotein (oxLDL), high-sensitive C-reactive protein (hs-CRP) serum concentrations and other parameters of lipid metabolism in children with INS during relapse and remission of proteinuria. Methods The examination was performed on 23 childre...

  13. Experimental study of possible therapy of the acute radiation syndrome

    International Nuclear Information System (INIS)

    Willborn, M.

    1981-01-01

    These experimental studies showed that the survival time of rats, irradiated in a whole-body irradiation with 3000 rad 60 Co-gamma, can be positively influenced by the administration of an antibiotic and also by glucocorticoids. Contrary to our expectations, the combined application of the glucocorticoid and the antibiotic did not increase the survival time of the animals with gastrointestinal syndromes compared with the exclusive administration of the antibiotic. The mineral corticoid aldosterone resulted to be ineffective. (orig.) [de

  14. Immunosuppressive treatment for nephrotic idiopathic membranous nephropathy: a meta-analysis based on Chinese adults.

    Directory of Open Access Journals (Sweden)

    Guoqiang Xie

    Full Text Available Idiopathic membranous nephropathy (IMN is the most common pathological type for nephrotic syndrome in adults in western countries and China. The benefits and harms of immunosuppressive treatment in IMN remain controversial.To assess the efficacy and safety of different immunosuppressive agents in the treatment of nephrotic syndrome caused by IMN.PubMed, EMBASE, Cochrane Library and wanfang, weipu, qinghuatongfang, were searched for relevant studies published before December 2011. Reference lists of nephrology textbooks, review articles were checked. A meta-analysis of randomized controlled trials (RCTs meeting the criteria was performed using Review Manager.17 studies were included, involving 696 patients. Calcineurin inhibitors had a better effect when compared to alkylating agents, on complete remission (RR 1.61, 95% CI 1.13, to 2.30 P = 0.008, partial or complete remission (effective (CR/PR, RR 1.29, 95% CI 1.09 to 1.52 P = 0.003, and fewer side effects. Among calcineurin inhibitors, tacrolimus (TAC was shown statistical significance in inducing more remissions. When compared to cyclophosphamide (CTX, leflunomide (LET showed no beneficial effect, mycophenolate mofetil (MMF showed significant beneficial on effectiveness (CR/PR, RR: 1.41, 95% CI 1.16 to 1.72 P = 0.0006 but not significant on complete remission (CR, RR: 1.38, 95% CI 0.89 to 2.13 P = 0.15.This analysis based on Chinese adults and short duration RCTs suggested calcineurin inhibitors, especially TAC, were more effective in proteinuria reduction in IMN with acceptable side effects. Long duration RCTs were needed to confirm the long-term effects of those agents in nephrotic IMN.

  15. Padrões morfológicos de lesão glomerular e correlação com achados clinicolaboratoriais de 43 crianças com síndrome nefrótica Morphologic patterns of glomerular lesion and correlation with clinical and laboratory findings of 43 children with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Márcia Camegaçava Riyuzo

    2004-10-01

    Full Text Available OBJETIVOS: Avaliar a associação entre os parâmetros clinicolaboratoriais e alteração morfológica de biópsias renais em crianças com síndrome nefrótica. MÉTODOS: Os dados foram obtidos dos prontuários médicos de 43 crianças com síndrome nefrótica submetidas a biópsia renal. RESULTADOS: Vinte e oito pacientes eram do sexo masculino (65,1%, idades entre 1,4 a 12 anos (média de 4,7±3,2. Quarenta e dois pacientes (97,7% apresentaram edema; 83,7%, oligúria e 32,5%, hipertensão arterial. A média de proteinúria foi 15,3g/1,73m²SC/dia e 55,8% apresentaram hematúria microscópica. As biópsias renais mostraram: glomerulonefrite proliferativa mesangial (GNPM em 37,2%, glomeruloesclerose segmentar e focal (GESF em 27,9%, alterações glomerulares mínimas (LM em 25,6%, glomerulonefrite membranoproliferativa (GNMP em 7% e glomerulonefrite membranosa (GNM em 2,3%. Vinte e seis pacientes (60,5% apresentaram resistência ao corticosteróide. Idade, sexo, hipertensão arterial, oligúria, uréia e creatinina séricas não mostraram diferenças estatísticas significativas entre os pacientes com GNPM, GESF e LM. Os pacientes com GNPM e GESF apresentaram maior freqüência de hematúria microscópica (p OBJECTIVES: To evaluate the association between clinical features and laboratory findings with the morphological changes in children with nephrotic syndrome. METHODS: The data were obtained from medical records of 43 children with nephrotic syndrome submitted to renal biopsy. RESULTS: Twenty-eight patients were male (65.1%, aged 1.4-12 years (mean 4.7 ± 3,2. Forty-two patients (97,7% presented edema, 83.7% oliguria and 32.5% hypertension. The mean of proteinuria was 15.3g/1.73m² BSA per day and 55.8% presented microscopic hematuria. Renal biopsies showed: proliferative mesangial glomerulonephritis (PMGN in 37.2%, focal segmental glomerulosclerosis (FSGS in 27.9%, minimal change disease (MCD in 25.6%, membranoproliferative

  16. Frequency and clinicopathological correlations of histopathological variants of idiopathic focal segmental glomerulosclerosis in nephrotic adolescents

    International Nuclear Information System (INIS)

    Shakeel, S.; Mubarak, M.; Kazi, J.I.

    2014-01-01

    Objective: To determine the frequency and clinicopathological correlations of focal segmental glomerulosclerosis variants in adolescents with idiopathic nephrotic syndrome. Methods: All consecutive adolescents (12 to 18 years) who presented with idiopathic nephrotic syndrome in the period, January 2009 to December 2012, and in whom the histological diagnosis of focal segmental glomerulosclerosis was made on renal biopsies, were included in this prospective study. Their clinical, laboratory and histopathological features at the time of presentation or biopsy were noted from the case files and the biopsy reports. Results: Among 50 adolescents, 34 (68%) were males and 16 (32%) females. The mean age was 15.14+-2.3 years. The mean duration of disease was 6.3+-11.2 months. The mean serum creatinine was 0.96+-0.82 mg/dl. The mean 24-hour urinary protein excretion was 3.8+-0.68 grams. Biopsy indications were steroid-resistant nephritic syndrome in 15 (30%), steroid-dependant nephritic syndrome in 19 (38%) and adolescent nephritic syndrome in 16 (32%) cases. Among the focal segmental glomerulosclerosis variants, 40 (80%) were not otherwise specified, followed by the collapsing variant, which accounted for 8 (16%) cases. The tip and cellular variants, both were found in one (2%) case each. Among the histological features, global glomerulosclerosis was found in 23 (46%) cases, and segmental scarring/collapse in all (100%). A variable degree of tubular atrophy and interstitial fibrosis was noted in 44 (88%) cases. Conclusion: The results from this study indicate that the pattern of focal segmental glomerulosclerosis variants differs markedly in adolescents compared with younger children. (author)

  17. INHERITED PATHOLOGY OF β2-LAMININ (PIERSON SYNDROME: CLINICAL AND GENETIC ASPECTS

    Directory of Open Access Journals (Sweden)

    M.Yu. Kagan

    2010-01-01

    Full Text Available For the last decade a great successes were attained in the study of molecular bases of glomerular diseases. It was certain that the most frequent reasons of congenital and infantile nephrotic syndrome are mutations in the genes of NPHS1, NPHS2, and WT1. Nevertheless, until now, a number of patients, having combination of early nephrotic syndrome with inherent pathology of other organs, which etiology remains un known. These cases continue to be intensively probed. One of the most important recent achievements in understanding of molecular mechanisms of early nephrotic syndrome is the discovery of mutations of gene of LAMB2, encoding β2 laminin, as the cause of Pearson syndrome (OMIM#609049. In this article the author presents the basic genetic and clinical descriptions of this recently identified pathology. Key words: Pearson syndrome, congenital nephrotic syndrome, β2 laminin, malformation of organ of vision. (Pediatric Pharmacology. – 2010; 7(3:114-117

  18. Imaging alveolar-capillary permeability in experimental respiratory distress syndrome

    International Nuclear Information System (INIS)

    Suzuki, T.; Watanabe, S.; Wagner, H.N.; Swift, D.L.; Proctor, D.F.

    1982-01-01

    Pulmonary edema can be induced in dogs by low doses of oleic acid (20 μl/kg) given intravenously, simulating the adult respiratory distress syndrome (ARDS). Alveolar-capillary permeability was measured in dogs, using sup(99m)Tc-DTPA and sup(99m)Tc-albumin fine aerosols produced by a newly designed separator. This separator eliminates the effect of mucociliary movement on aerosol clearance. The small molecular-laden aerosol particles were cleared in the order: sup(99m)-TcO 4 - , sup(99m)Tc-DTPA, and sup(99m)Tc-disofenin; the Tsub(1/2) of lung clearance correlated with molecular sizes. Experimental ARDS increased the lung clearance of sup(99m)Tc-DTPA. Lung clearance of large molecule (sup(99m)Tc-albumin) laden aerosol particles was not accelerated in the ARDS model. Inhalation with fine aerosols revealed increased alveolar permeability in the ARDS model without any change of cardiac output

  19. Tolvaptan alleviates excessive fluid retention of nephrotic diabetic renal failure unresponsive to furosemide.

    Science.gov (United States)

    Takada, Tesshu; Masaki, Tsuguto; Hoshiyama, Ayako; Toki, Takuya; Kamata, Yuji; Shichiri, Masayoshi

    2018-04-17

    Patients with diabetic nephropathy develop nephrotic syndrome, and may show limited response to conventional therapy. They often require earlier initiation of renal replacement therapy because they become refractory to diuretics, and experience excessive fluid retention. We aimed to investigate the efficacy of tolvaptan, an oral arginine vasopressin type 2 receptor antagonist, in a case series of 14 severe diabetic renal failure patients who were severely refractory to maximal doses of furosemide and had excessive fluid retention despite preserved cardiac function and residual renal function. All 14 patients experienced immediate and sustained water diuretic effects, resulting in alleviation of congestive heart failure. None required initiation of renal replacement therapy. Tolvaptan promptly increased urine volume and free water clearance, reversed progressive fluid retention, and alleviated congestive heart failure. Thus, tolvaptan could serve as a potential adjunct therapy for severe diabetic renal failure patients with excessive fluid retention and congestive heart failure. This article is protected by copyright. All rights reserved.

  20. Experimental Functional Analysis of Aggression in Children with Angelman Syndrome

    Science.gov (United States)

    Strachan, Rachel; Shaw, Rebecca; Burrow, Caroline; Horsler, Kate; Allen, Debbie; Oliver, Chris

    2009-01-01

    Background: Kinship theory suggests that genomic imprinting could account for phenotypic behaviors that increase (in the case of Angelman syndrome) or decrease (for Prader-Willi syndrome) the drive to access social resources (adult contact) depending on the imprinting parent-of-origin. Difficult to manage behaviors, such as aggression that is…

  1. Polycystic ovarian syndrome: temporal characterization of the induction and reversion process in an experimental model

    OpenAIRE

    Salvetti, Natalia R.; Canal, Ana M.; Gimeno, Eduardo J.; Ortega, Hugo H.

    2004-01-01

    Numerous experimental models have been developed for the study of the polycystic ovarian syndrome in the rat. In the present study, the syndrome was induced by exposure to constant light. The process was evaluated during its induction and also during its reversion. The estral cycle was analyzed through the vaginal cytology; reproductive parameters were evaluated by mating, as well as the ovarian morphology. All the animals developed the syndrome after 13 weeks of permanent light. The histolog...

  2. Case study of a patient with severe nephrotic syndrome.

    Science.gov (United States)

    de Guzman, L; Joyce, K

    1991-10-01

    M.T. battled SLE for 9 years before renal failure occurred. She is now free of extrarenal symptoms of lupus, as has been described elsewhere (Ziff & Hilderman, 1983). The patient has regained here appetite, lost 13 pounds, recovered some strength and reestablished her social network. Without the severe proteinuria, M.T. has a chance to improve her nutritional status and increase her albumin. Her pulmonary status may also improve if she can refrain from smoking. Although fatigue is a debilitating feature of lupus, M.T. has increased stamina and is learning energy conservation techniques. Immediately after surgery, she did experience problems with bleeding, pneumonia, and pleural effusions, but the medical and nursing management prevented serious adverse outcomes. Fluid balance is no longer problematic, and M.T. is approaching her ideal body weight as her nutritional status improves. Her serum albumin has increased to about 2.6 gm/dl with some decrease in her proteinuria.

  3. Circulating dendritic cells in pediatric patients with nephrotic syndrome

    African Journals Online (AJOL)

    Background: Dendritic cells (DCs) represent one of the most extensively studied topics in immunology, because of their central role in the induction and regulation of adaptive immunity, and because of their therapeutic potential for manipulating immune responses. Objectives: To evaluate circulating DC levels in pediatric ...

  4. Experimental treatment of gastrointestinal radiation syndrome in dogs

    International Nuclear Information System (INIS)

    Mao Bingzhi; Chen Dezheng; Liu Zuobin

    1986-01-01

    Gastrointestinal radiation syndrome occurred in 27 mongrel dogs irradiated with 9-12 Gy of 60 Co γ-rays. Six of them received autologous bone marrow transplantation (auto-BMT), 10 animals were treated with symptomatic and supportive measures only, and the remaining 11 dogs served as controls without any treatment. All animals of the latter two groups died between 3 and 11 days after irradiation without any evidence of hematopoietic recovery. Recovery of gastrointestinal injury was found in 7 dogs treated with symptomatic and supportive measures only. Of 6 dogs having received auto-BMT 2 died 15 days after irradiation, 3 survived over 30 days with recovery of gastrointestinal and hematopoietic injury but died of distemper later, and the other one, still alive, has survived for more than 4 years. The results show that the effective measures for gastrointestinal radiatin syndrome are BMT and symptomatic therapy

  5. Circadian rhythms and metabolic syndrome: from experimental genetics to human disease

    OpenAIRE

    Maury, Eleonore; Ramsey, Kathryn Moynihan; Bass, Joseph

    2010-01-01

    The incidence of the metabolic syndrome represents a spectrum of disorders that continue to increase across the industrialized world. Both genetic and environmental factors contribute to metabolic syndrome and recent evidence has emerged to suggest that alterations in circadian systems and sleep participate in the pathogenesis of the disease. In this review, we highlight studies at the intersection of clinical medicine and experimental genetics that pinpoint how perturbations of the internal ...

  6. Experimental Airborne Transmission of Porcine Postweaning Multisystemic Wasting Syndrome

    DEFF Research Database (Denmark)

    Kristensen, C. S.; Hjulsager, Charlotte Kristiane; Vestergaard, K.

    2013-01-01

    The objective of these studies was to investigate if porcine postweaning multisystemic wasting syndrome (PMWS) could be induced in healthy pigs following contact with air from pigs with clinical signs of PMWS. The pigs were housed in different units. Either 31 (study I) or 25 (study II) pigs with...... typical of PMWS. Sequence analysis revealed that the PCV2 isolate belonged to genotype 2b. In conclusion, the present study showed that PMWS can be induced in pigs from a PMWS-free herd by airborne contact with pigs from a PMWS-affected herd....

  7. Effect of colchicine on polycystic ovary syndrome: an experimental study.

    Science.gov (United States)

    Gozukara, Ilay Ozturk; Pınar, Neslihan; Ozcan, Oğuzhan; Ozgur, Tumay; Dokuyucu, Recep; Kurt, Raziye Keskin; Kucur, Suna Kabil; Aksoy, Ayşe Nur

    2016-03-01

    To investigate whether there is any therapeutic effect of colchicine on a rat model of polycystic ovary syndrome (PCOS). Twenty-two Wistar-Albino rats were randomly assigned into four with 8 rats in each group: control group; PCOS only group; PCOS-metformin group and PCOS-colchicine group. PCOS was induced by gavage with letrozole once daily at the concentration of 1 mg/kg orally with 21 consecutive days. After PCOS model assessment, PCOS-metformin group was received metformin orally with 500 mg/kg and PCOS-colchicine group was received colchicine orally with 1 mg/kg for the 35 day. Histopathology of ovaries, circulating estrone (E1), estradiol (E2), total testosterone, androstenedione and c-reactive protein (CRP) levels were evaluated. cystic and atretic follicle number was significantly decreased, but CRP and hormone parameters were not significantly changed with colchicine treatment. Colchicine has provided histopathological improvement compared with metformin in PCOS rat model.

  8. Pain perception in people with Down syndrome: a synthesis of clinical and experimental research

    Science.gov (United States)

    McGuire, Brian E.; Defrin, Ruth

    2015-01-01

    People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain perception of people with Down syndrome. In this review paper, we evaluated the available clinical and experimental evidence. Some experimental studies of acute pain have indicated that pain threshold was higher than normal but only when using a reaction time method to measure pain sensitivity. However, when reaction time is not part of the calculation of the pain threshold, pain sensitivity in people with Down syndrome is in fact lower than normal (more sensitive to pain). Clinical studies of chronic pain have shown that people with an intellectual disability experience chronic pain and within that population, people with Down syndrome also experience chronic pain, but the precise prevalence of chronic pain in Down syndrome has yet to be established. Taken together, the literature suggests that people with Down syndrome experience pain, both acute and chronic, with at least the same frequency as the rest of the population. Furthermore, the evidence suggests that although acute pain expression appears to be delayed, once pain is registered, there appears to be a magnified pain response. We conclude by proposing an agenda for future research in this area. PMID:26283936

  9. Uptake of indium-111 labelled platelets by normal, nephrotic and transplanted kidneys

    International Nuclear Information System (INIS)

    Desir, G.; Lange, R.; Smith, E.; Bia, M.; Flye, M.; Kashgarian, M.; Canganelli, A.; Ezekowitz

    1984-01-01

    To determine the role of platelets in the genesis of renal transplant (T) rejection, the authors studied 3 groups of adult patients. Group I, n=8, had normal renal function (Cr=1 +- 0.1 mg%, Mean +- SD). Group II, n=9, had nephrotic syndrome (Cr=2.4 +- 1). Group III, n=7, consisted of 5 cadaveric (C) and 2 living related donor (LRD) T. In Group II, 1 patient had received a T 4 years prior to study. Group I and II received 448 +- 101 μCi and Group III 236 +- 51 μCi of Indium-111. In Groups I and II the first image was obtained 18 +- 6 hrs after injection. In Group II the first was obtained 6 +- 2 hr after injection and 1-3 times/day thereafter for a maximum of 7 days. Renal biopsies were obtained in all patients in Group III during imaging (n=5) or within 2 - 5 days of the last image. One patient was studied twice. In Group III, 5 patients received prednisone and azothiaprine and 2 prednisone and cyclosporine. Platelet uptake index (PUI) was calculated as the ratio of uptake over the T against a reference area. Rejection was diagnosed by biopsy. In groups I and II platelet uptake was seen only in the T patient. In Group III the PUI was 1.54 +- .13 in the rejecting T (n=5), 1.42 +- .2 in the non-rejecting T (n=3), 1.62 in a LRD non-rejecting T and 1.31 (n=2) in C non-rejecting T. In the four patients studied within 5 days of T the PUI was elevated at 1.47 +- .1. The authors conclude that: 1) platelets do not accumulate in normal or nephrotic native kidneys, 2) significant uptake occurs in the first week after C and LRD whether or not rejection is present, and 3) uptake in non-rejecting kidneys cannot be ascribed to perfusion induced endothelial injury since it was present in LRD transplants

  10. Circadian rhythms and metabolic syndrome: from experimental genetics to human disease.

    Science.gov (United States)

    Maury, Eleonore; Ramsey, Kathryn Moynihan; Bass, Joseph

    2010-02-19

    The incidence of the metabolic syndrome represents a spectrum of disorders that continue to increase across the industrialized world. Both genetic and environmental factors contribute to metabolic syndrome and recent evidence has emerged to suggest that alterations in circadian systems and sleep participate in the pathogenesis of the disease. In this review, we highlight studies at the intersection of clinical medicine and experimental genetics that pinpoint how perturbations of the internal clock system, and sleep, constitute risk factors for disorders including obesity, diabetes mellitus, cardiovascular disease, thrombosis and even inflammation. An exciting aspect of the field has been the integration of behavioral and physiological approaches, and the emerging insight into both neural and peripheral tissues in disease pathogenesis. Consideration of the cell and molecular links between disorders of circadian rhythms and sleep with metabolic syndrome has begun to open new opportunities for mechanism-based therapeutics.

  11. Alveolar type II epithelial cell dysfunction in rat experimental hepatopulmonary syndrome (HPS.

    Directory of Open Access Journals (Sweden)

    Wenli Yang

    Full Text Available The hepatopulmonary syndrome (HPS develops when pulmonary vasodilatation leads to abnormal gas exchange. However, in human HPS, restrictive ventilatory defects are also observed supporting that the alveolar epithelial compartment may also be affected. Alveolar type II epithelial cells (AT2 play a critical role in maintaining the alveolar compartment by producing four surfactant proteins (SPs, SP-A, SP-B, SP-C and SP-D which also facilitate alveolar repair following injury. However, no studies have evaluated the alveolar epithelial compartment in experimental HPS. In this study, we evaluated the alveolar epithelial compartment and particularly AT2 cells in experimental HPS induced by common bile duct ligation (CBDL. We found a significant reduction in pulmonary SP production associated with increased apoptosis in AT2 cells after CBDL relative to controls. Lung morphology showed decreased mean alveolar chord length and lung volumes in CBDL animals that were not seen in control models supporting a selective reduction of alveolar airspace. Furthermore, we found that administration of TNF-α, the bile acid, chenodeoxycholic acid, and FXR nuclear receptor activation (GW4064 induced apoptosis and impaired SP-B and SP-C production in alveolar epithelial cells in vitro. These results imply that AT2 cell dysfunction occurs in experimental HPS and is associated with alterations in the alveolar epithelial compartment. Our findings support a novel contributing mechanism in experimental HPS that may be relevant to humans and a potential therapeutic target.

  12. Cytochrome P450 2E1 participation in the pathogenesis of experimental metabolic syndrome in guinea pigs

    Directory of Open Access Journals (Sweden)

    V. V. Rushchak

    2016-04-01

    Full Text Available In this work the experimental metabolic syndrome on the basis of protamine sulfate modeling in guinea pigs was reproduced and pathological processes in the liver of experimental animals were studied. We determined the level of free radicals and markers of liver damage in the blood of experimental animals. We investigated the liver glycogen content and K+,Na+-ATPase activity in the liver of experimental animals as well as measured the cytochrome P450 2E1 (CYP2E1 expression – one of the main factors of oxidative stress. Evidence of development of hepatotoxic processes, increasing of the CYP2E1 level as well as of the free radical level in the animals with metabolic syndrome were found. Using of CYP2E1 inhibitors had shown that the free radical level in the blood of experimental animals depended on the level of the enzyme expression and activity. The obtained results suggest that the changes in the CYP2E1 expression play an important role in the development of hepatotoxic processes upon experimental metabolic syndrome. It was assumed that pharmacological correction of the enzyme expression may be an important mechanism for the influence on the metabolic syndrome clinical course.

  13. [Experimental study on establishment of a simple model of rats crush injury-crush syndrome].

    Science.gov (United States)

    Chen, Xi; Liu, Yuehong; Xu, Wei; Qin, Tingwu; Zhao, Luping; Liu, Shuping; Zhang, Yi; Tan, Hong; Zhou, Yu

    2013-01-01

    To establish a repeatable, simple, and effective model of rat crush injury and crush syndrome. A total of 42 female Sprague Dawley rats (2-month-old, (CS) so as to lay a foundation for further study on CS. weighing 160-180 g) were divided randomly into the control group (n=6) and experimental group (n=36). The rats of the experimental group were used to establish the crush injury and CS model in both lower limbs by self-made crush injury mould. The survival rate and hematuria rate were observed after decompression. The biochemical indexes of blood were measured at 2, 4, 8, 12, 24, and 48 hours after decompression. The samples of muscle, kidney, and heart were harvested for morphological observation. There was no treatment in the control group, and the same tests were performed. Seven rats died and 15 rats had hematuria during compression in the experimental group. Swelling of the lower limb and muscle tissue was observed in the survival rats after reperfusion. The liver function test results showed that the levels of alanine transaminase and aspartate aminotransferase in the experimental group were significantly higher than those in the control group (P congestion and swelling, renal tubular epithelial cell degeneration, edema, necrosis, and myoglobin tube type were found in the kidneys; and myocardial structure had no obvious changes. The method of the crush injury and CS model by self-made crush injury mould is a simple and effective procedure and the experimental result is stable. It is a simple method to establish an effective model of rats crush injury and CS.

  14. Higher levels of spontaneous breathing reduce lung injury in experimental moderate acute respiratory distress syndrome.

    Science.gov (United States)

    Carvalho, Nadja C; Güldner, Andreas; Beda, Alessandro; Rentzsch, Ines; Uhlig, Christopher; Dittrich, Susanne; Spieth, Peter M; Wiedemann, Bärbel; Kasper, Michael; Koch, Thea; Richter, Torsten; Rocco, Patricia R; Pelosi, Paolo; de Abreu, Marcelo Gama

    2014-11-01

    To assess the effects of different levels of spontaneous breathing during biphasic positive airway pressure/airway pressure release ventilation on lung function and injury in an experimental model of moderate acute respiratory distress syndrome. Multiple-arm randomized experimental study. University hospital research facility. Thirty-six juvenile pigs. Pigs were anesthetized, intubated, and mechanically ventilated. Moderate acute respiratory distress syndrome was induced by repetitive saline lung lavage. Biphasic positive airway pressure/airway pressure release ventilation was conducted using the airway pressure release ventilation mode with an inspiratory/expiratory ratio of 1:1. Animals were randomly assigned to one of four levels of spontaneous breath in total minute ventilation (n = 9 per group, 6 hr each): 1) biphasic positive airway pressure/airway pressure release ventilation, 0%; 2) biphasic positive airway pressure/airway pressure release ventilation, > 0-30%; 3) biphasic positive airway pressure/airway pressure release ventilation, > 30-60%, and 4) biphasic positive airway pressure/airway pressure release ventilation, > 60%. The inspiratory effort measured by the esophageal pressure time product increased proportionally to the amount of spontaneous breath and was accompanied by improvements in oxygenation and respiratory system elastance. Compared with biphasic positive airway pressure/airway pressure release ventilation of 0%, biphasic positive airway pressure/airway pressure release ventilation more than 60% resulted in lowest venous admixture, as well as peak and mean airway and transpulmonary pressures, redistributed ventilation to dependent lung regions, reduced the cumulative diffuse alveolar damage score across lungs (median [interquartile range], 11 [3-40] vs 18 [2-69]; p ventilation more than 0-30% and more than 30-60% showed a less consistent pattern of improvement in lung function, inflammation, and damage compared with biphasic positive airway

  15. Attempted Experimental Reproduction of Porcine Periweaning-Failure-to-Thrive Syndrome Using Tissue Homogenates

    Science.gov (United States)

    Huang, Yanyun; Harding, John C. S.

    2014-01-01

    Porcine periweaning failure-to-thrive syndrome (PFTS) is characterized by anorexia and progressive debilitation of newly weaned pigs, of which some also demonstrate repetitive oral behaviour. Although no relevant porcine pathogens have been shown to be causally associated, inoculation of susceptible pigs using tissue homogenates is needed to rule out infectious etiologies. Eight snatched-farrowed porcine-colostrum-deprived (SF-pCD) pigs were inoculated with tissue homogenates made from PFTS-affected pigs orally, or combined orally, intraperitoneally (IP) and intramuscularly (IM) at day (D) 14 of age (INOC). On D21, IP and IM inoculation were repeated. Four sham-inoculated pigs served as control (CTRL). Three INOC pigs developed mixed bacterial septicemia between the first and second inoculation. All other pigs survived until termination on D49. Average daily gain (ADG) and the frequencies of diarrhea did not differ between INOC and CTRL pigs D14 and D29. Additionally, the progressive debilitation characteristic of PFTS was not observed in any pig, and repetitive oral behaviour was observed in both groups. In conclusion, PFTS was not experimentally reproduced by the current experimental approach providing evidence that PFTS may not have an infectious etiology. PMID:24594806

  16. Attempted experimental reproduction of porcine periweaning-failure-to-thrive syndrome using tissue homogenates.

    Science.gov (United States)

    Huang, Yanyun; Harding, John C S

    2014-01-01

    Porcine periweaning failure-to-thrive syndrome (PFTS) is characterized by anorexia and progressive debilitation of newly weaned pigs, of which some also demonstrate repetitive oral behaviour. Although no relevant porcine pathogens have been shown to be causally associated, inoculation of susceptible pigs using tissue homogenates is needed to rule out infectious etiologies. Eight snatched-farrowed porcine-colostrum-deprived (SF-pCD) pigs were inoculated with tissue homogenates made from PFTS-affected pigs orally, or combined orally, intraperitoneally (i.p.) and intramuscularly (i.m.) at day (D) 14 of age (INOC). On D21, i.p. and i.m. inoculation were repeated. Four sham-inoculated pigs served as control (CTRL). Three INOC pigs developed mixed bacterial septicemia between the first and second inoculation. All other pigs survived until termination on D49. Average daily gain (ADG) and the frequencies of diarrhea did not differ between INOC and CTRL pigs D14 and D29. Additionally, the progressive debilitation characteristic of PFTS was not observed in any pig, and repetitive oral behaviour was observed in both groups. In conclusion, PFTS was not experimentally reproduced by the current experimental approach providing evidence that PFTS may not have an infectious etiology.

  17. Respiratory and Systemic Effects of LASSBio596 Plus Surfactant in Experimental Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    Johnatas Dutra Silva

    2016-02-01

    Full Text Available Background/Aims: Exogenous surfactant has been proposed as adjunctive therapy for acute respiratory distress syndrome (ARDS, but it is inactivated by different factors present in the alveolar space. We hypothesized that co-administration of LASSBio596, a molecule with significant anti-inflammatory properties, and exogenous surfactant could reduce lung inflammation, thus enabling the surfactant to reduce edema and improve lung function, in experimental ARDS. Methods: ARDS was induced by cecal ligation and puncture surgery in BALB/c mice. A sham-operated group was used as control (CTRL. After surgery (6 hours, CTRL and ARDS animals were assigned to receive: (1 sterile saline solution; (2 LASSBio596; (3 exogenous surfactant or (4 LASSBio596 plus exogenous surfactant (n = 22/group. Results: Regardless of exogenous surfactant administration, LASSBio596 improved survival rate and reduced collagen fiber content, total number of cells and neutrophils in PLF and blood, cell apoptosis, protein content in BALF, and urea and creatinine levels. LASSBio596 plus surfactant yielded all of the aforementioned beneficial effects, as well as increased BALF lipid content and reduced surface tension. Conclusion: LASSBio596 exhibited major anti-inflammatory and anti-fibrogenic effects in experimental sepsis-induced ARDS. Its association with surfactant may provide further advantages, potentially by reducing surface tension.

  18. Surgical management of short bowel syndrome by construction of an isoperistaltic intestinal valve: an experimental study in dogs.

    Science.gov (United States)

    Papaziogas, T; Tassiopoulos, A; Papaziogas, B; Koutsias, S; Alexandrakis, A; Sakellaridis, D; Galanis, N

    1999-08-01

    To develop of an isoperistaltic invaginated valve for the treatment of short bowel syndrome. Randomised experimental study University Hospital, Greece 8 mongrel dogs 90% resection of the small bowel, followed by construction of an invaginated valve one month later. weight loss, fat excretion in the faeces, radiographic and histological examination of the valve, pressure curve along the valve. Weight loss and steatorrhoea were reversed over a period of 2-3 months without evidence of intestinal obstruction in any of the animals. The construction of an isoperistaltic invaginated valve could be a solution to the management of the short gut syndrome.

  19. Development and characterization of an experimental model of diet-induced metabolic syndrome in rabbit.

    Directory of Open Access Journals (Sweden)

    Oscar Julián Arias-Mutis

    Full Text Available Metabolic syndrome (MetS has become one of the main concerns for public health because of its link to cardiovascular disease. Murine models have been used to study the effect of MetS on the cardiovascular system, but they have limitations for studying cardiac electrophysiology. In contrast, the rabbit cardiac electrophysiology is similar to human, but a detailed characterization of the different components of MetS in this animal is still needed. Our objective was to develop and characterize a diet-induced experimental model of MetS that allows the study of cardiovascular remodeling and arrhythmogenesis. Male NZW rabbits were assigned to control (n = 15 or MetS group (n = 16, fed during 28 weeks with high-fat, high-sucrose diet. We measured weight, morphological characteristics, blood pressure, glycaemia, standard plasma biochemistry and the metabolomic profile at weeks 14 and 28. Liver histological changes were evaluated using hematoxylin-eosin staining. A mixed model ANOVA or unpaired t-test were used for statistical analysis (P<0.05. Weight, abdominal contour, body mass index, systolic, diastolic and mean arterial pressure increased in the MetS group at weeks 14 and 28. Glucose, triglycerides, LDL, GOT-AST, GOT/GPT, bilirubin and bile acid increased, whereas HDL decreased in the MetS group at weeks 14 and 28. We found a 40% increase in hepatocyte area and lipid vacuoles infiltration in the liver from MetS rabbits. Metabolomic analysis revealed differences in metabolites related to fatty acids, energetic metabolism and microbiota, compounds linked with cardiovascular disease. Administration of high-fat and high-sucrose diet during 28 weeks induced obesity, glucose intolerance, hypertension, non-alcoholic hepatic steatosis and metabolic alterations, thus reproducing the main clinical manifestations of the metabolic syndrome in humans. This experimental model should provide a valuable tool for studies into the mechanisms of cardiovascular

  20. Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

    Science.gov (United States)

    Gupta, Ankur; Khaira, Ambar; Lal, Charanjit; Mahajan, Sandeep; Tiwari, Suresh C

    2009-10-01

    Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fused ectopic kidneys. Renal biopsy showed focal segmental glomerulosclerosis. Oral steroids were instituted and she responded well. The case highlights this novel renal presentation of Noonan syndrome.

  1. Negative Reinforcement and Premonitory Urges in Youth With Tourette Syndrome: An Experimental Evaluation.

    Science.gov (United States)

    Capriotti, Matthew R; Brandt, Bryan C; Turkel, Jennifer E; Lee, Han-Joo; Woods, Douglas W

    2014-03-01

    Tourette syndrome (TS) is marked by the chronic presence of motor and vocal tics that are usually accompanied by aversive sensory experiences called "premonitory urges." Phenomenological accounts suggest that these urges occur before tics and diminish following their occurrence. This has led some to suggest that tics are negatively reinforced by removal of premonitory urges. This hypothesis has proven difficult to test experimentally, however, due in part to challenges in measuring premonitory urge strength. We tested predictions of the negative reinforcement conceptualization of premonitory urges using novel experimental tactics within the context of the "tic detector" paradigm. We compared tic rates and ratings of premonitory urge strength exhibited by youth with TS or chronic tic disorder under free-to-tic baseline (BL), reinforced tic suppression (RTS), and reinforced tic suppression with escape (RTS + E) conditions. Results were consistent with previous research and hypotheses of the present study. Participants rated the strength of their premonitory urges as higher during RTS conditions than during BL conditions. Within RTS + E conditions, tic rates were higher during escape portions when the contingency supporting tic suppression was inactive than during components where the contingency was active, and ratings of urge strength were higher at the onset of break periods than at the offset. All participants engaged in some level of escape from reinforced suppression during the course of the experiment. Results of this study support the notion that tics may be negatively reinforced by removal of aversive premonitory urges. Future directions for basic and clinical research are discussed. © The Author(s) 2014.

  2. Adenoviral transfer of HSP-70 into pulmonary epithelium ameliorates experimental acute respiratory distress syndrome.

    Science.gov (United States)

    Weiss, Yoram G; Maloyan, Alina; Tazelaar, John; Raj, Nichelle; Deutschman, Clifford S

    2002-09-01

    The acute respiratory distress syndrome (ARDS) provokes three pathologic processes: unchecked inflammation, interstitial/alveolar protein accumulation, and destruction of pulmonary epithelial cells. The highly conserved heat shock protein HSP-70 can limit all three responses but is not appropriately expressed in the lungs after cecal ligation and double puncture (2CLP), a clinically relevant model of ARDS. We hypothesize that restoring expression of HSP-70 using adenovirus-mediated gene therapy will limit pulmonary pathology following 2CLP. We administered a vector containing the porcine HSP-70 cDNA driven by a CMV promoter (AdHSP) into the lungs of rats subjected to 2CLP or sham operation. Administration of AdHSP after either sham operation or 2CLP increased HSP-70 protein expression in lung tissue, as determined by immunohistochemistry and Western blot hybridization. Administration of AdHSP significantly attenuated interstitial and alveolar edema and protein exudation and dramatically decreased neutrophil accumulation, relative to a control adenovirus. CLP-associated mortality at 48 hours was reduced by half. Modulation of HSP-70 production reduces pathologic changes and may improve outcome in experimental ARDS.

  3. A low-protein diet restricts albumin synthesis in nephrotic rats.

    OpenAIRE

    Kaysen, G A; Jones, H; Martin, V; Hutchison, F N

    1989-01-01

    High-protein diets increase albumin synthesis in rats with Heymann nephritis but albuminuria increases also, causing serum albumin concentration to be suppressed further than in nephrotic animals eating a low-protein diet. Experiments were designed to determine whether dietary protein augmentation directly stimulates albumin synthesis, or whether instead increased albumin synthesis is triggered by the decrease in serum albumin concentration. Evidence is presented that dietary protein augmenta...

  4. [Simvastatin therapy and effect on hiperlipidemia and vascular status in nephrotic children with sustained dyslipidemia].

    Science.gov (United States)

    Ksiazek, Joanna; Niemirska, Anna; Lipka, Maria; Wierzbicka, Aldona; Syczewska, Małgorzata; Grenda, Ryszard

    2009-03-01

    Dyslipidemia is common in nephrotic children and persistent lipid abnormalities are risk factor of late vascular complications. The aim of the study was evaluation of efficacy and safety of 12-months simvastatin therapy in nephrotic children with lipid profile abnormalities present despite clinical remission lasting for at least 8 weeks, including ultrasonographic assessment of carotid and femoral arteries. Overall 52 children (40 steroid-dependent and 12 steroid-resistant) were initially introduced to the study and 29 of them were treated with simvastatin. Normalisation of lipid profile was achieved in 19/29 (65.5%) and improvement in 9/29 (31%). Significant reduction in total cholesterol (p 2.0) was small. Increased cIMT was seen at baseline in 4 patients and in 5 after simvastatin treatment, however average and Z-score values in children under simvastatin treatment have decreased. Increased fIMT values were seen at baseline in 2 and in one case after simvastatin treatment. Tolerance of simvastation was very good in all cases but one. Simvastatin therapy was effective and safe in nephrotic non-proteinuric children with abnormal lipid profile. Fair estimation of impact of the 12-months simvastatin therapy on vascular status was not available due to limited number of children with significantly increased IMT at baseline.

  5. Duration of growth depression and pathogen shedding in experimentally reproduced poult enteritis syndrome.

    Science.gov (United States)

    Jindal, Naresh; Patnayak, Devi P; Ziegler, Andre F; Lago, Alfonso; Goyal, Sagar M

    2009-12-01

    An experimental study was conducted to determine the duration of growth depression and virus shedding in turkey poults after oral inoculation with intestinal contents from birds affected with poult enteritis syndrome (PES). Poults at day 14 of age were divided into four groups (groups A, B, C, and D) of 40 poults each and inoculated orally with unfiltered supernatant, filtered supernatant, sediment suspended in phosphate-buffered saline (PBS), or PBS alone (control), respectively. The poults were observed daily for clinical signs, and their growth response, pathology, and pathogen shedding were examined at 10, 20, 30, 40, and 50 days postinoculation (DPI). Body weights of eight poults in each group were recorded at each of these intervals followed by euthanasia. Dullness, depression, and diarrhea were observed in birds inoculated with supernatant or sediment suspension. All three treatments significantly reduced body weight gain of poults compared with the control group; average weight loss was 14%. Gross pathologic changes consisted of pale distended intestines with watery contents and distended ceca with frothy and watery contents. Astrovirus and rotavirus were detected in the inoculum by reverse transcription (RT)-PCR, whereas Salmonella was identified on bacterial isolation. Both viruses were detected in treated poults by RT-PCR for up to 10 and 40 DPI, respectively. Of the three treatments, sediment suspension caused maximal decrease in weight gain as well as greatest pathologic lesions followed by unfiltered supernatant and filtered supernatant. These findings suggest a role for bacteria in increasing the severity of PES. Lower weight gain in treated poults (compared with controls) at 9 wk of age also indicates that PES-affected poults may not reach normal weight at marketing, leading to economic losses for the producer.

  6. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Abdollahi, Mohammad, E-mail: mohammad.abdollahi@utoronto.ca; Karami-Mohajeri, Somayyeh

    2012-02-01

    Acute organophosphate (OP) intoxication is important because of its high morbidity and mortality and occurrence of muscular paralysis associated by inhibition of acetylcholinesterase (AChE) activity at the neuromuscular junction. Cholinergic crisis, intermediate syndrome (IMS), and OP-induced delayed neuropathy (OPIDN) are the evidences that can be observed in OP intoxication. The main cause of morbidity due to OP poisoning is IMS that occurs 24–96 h after poisoning. Mechanisms underlying the IMS are not fully known. Although the electrophysiological aspects of delayed neuropathy are best characterized, the IMS remain very little studied. The aim of this study was to revisit current knowledge related to OP and the IMS. For this purpose, a systematic review without date limitation was performed. A total of 599 relevant articles were found and reviewed. Data were categorized according to experimental and clinical studies. Occurrences of persistent AChE inhibition, electromyography changes, muscle cell injury, and oxidative stress are the most important pieces of evidence for involvement of IMS in OP toxicity. Delayed AChE inhibition, muscle necrosis, down regulation or desensitization of postsynaptic ACh receptors, failure of postsynaptic ACh release, and oxidative stress-related myopathy are involved in IMS. Toxicokinetic factors, such as a high lipid-solubility, duration of AChE inhibition and metabolite excretion, evolution of alterations on repetitive nerve stimulation (RNS), type and frequency of muscle lesions can estimate the probability of the IMS. Plasma AChE of less than 200 units is a predictor and the 30 Hz RNS decremental response could be a useful marker for the IMS.

  7. A comprehensive review on experimental and clinical findings in intermediate syndrome caused by organophosphate poisoning

    International Nuclear Information System (INIS)

    Abdollahi, Mohammad; Karami-Mohajeri, Somayyeh

    2012-01-01

    Acute organophosphate (OP) intoxication is important because of its high morbidity and mortality and occurrence of muscular paralysis associated by inhibition of acetylcholinesterase (AChE) activity at the neuromuscular junction. Cholinergic crisis, intermediate syndrome (IMS), and OP-induced delayed neuropathy (OPIDN) are the evidences that can be observed in OP intoxication. The main cause of morbidity due to OP poisoning is IMS that occurs 24–96 h after poisoning. Mechanisms underlying the IMS are not fully known. Although the electrophysiological aspects of delayed neuropathy are best characterized, the IMS remain very little studied. The aim of this study was to revisit current knowledge related to OP and the IMS. For this purpose, a systematic review without date limitation was performed. A total of 599 relevant articles were found and reviewed. Data were categorized according to experimental and clinical studies. Occurrences of persistent AChE inhibition, electromyography changes, muscle cell injury, and oxidative stress are the most important pieces of evidence for involvement of IMS in OP toxicity. Delayed AChE inhibition, muscle necrosis, down regulation or desensitization of postsynaptic ACh receptors, failure of postsynaptic ACh release, and oxidative stress-related myopathy are involved in IMS. Toxicokinetic factors, such as a high lipid-solubility, duration of AChE inhibition and metabolite excretion, evolution of alterations on repetitive nerve stimulation (RNS), type and frequency of muscle lesions can estimate the probability of the IMS. Plasma AChE of less than 200 units is a predictor and the 30 Hz RNS decremental response could be a useful marker for the IMS.

  8. Malaria falciparum y síndrome nefrótico: nuestras experiencias Falciparum malaria and nephrotic Síndrome: Our experience

    Directory of Open Access Journals (Sweden)

    Jesús Juan Rodríguez

    2007-03-01

    Full Text Available Las especies de Plasmodium que infectan al hombre son: P. vivax, P. Malariae, P. Ovale y P. Falciparum. En Mozambique, como en la mayor parte de la llamada África Subsahariana, la especie predominante es P. falciparum cloroquina resistente. La infección por P. falciparum es potencialmente mortal, tiende a manifestarse como una enfermedad febril sin signos localizados o específicos. En los casos más graves, sin embargo puede presentarse asociada a variados síndromes clínicos que plantean serios retos terapéuticos.Es reconocido que la malaria o paludismo puede asociarse a síndrome nefrótico y se han dado explicaciones de esta relación patogénica. En Mozambique, en un período de seis meses, tuvimos la oportunidad de tratar tres casos de Malaria falciparum grave, asociado a síndrome nefrótico.Divulgar y trasmitir las experiencias prácticas y consideraciones teóricas a propósito de uno de estos casos es la motivación de los autores de este trabajo.Plasmodiumspecies infecting man are the following: P.vivax, P. Malariae, P. Ovale and P. Falciparum. In Mozambique, like the biggest area from the so called Subsaharian Africa,the resistent-chloroquine P. Falciparum is the predominating specie in this area. The P. Falciparum infection is potentially fatal, with a trend to show as a febrile condition with no localized or specific signs. In more severe cases, however, it may be presented in association with different clinical syndromes which represent serious therapeutic challenges. It is not unknown that Malaria or Paludism may be associated with the Nephrotic Syndrome, and many explanations have been given on this pathogenic relatioship. In a sixth month's period in Mozambique we had the chance to test three severe cases of Falciparum Malaria associated with a Nephrotic Syndrome. Spreading the practical experience and theoretic considerations on one of these cases is the aim of this work.

  9. Development of an Experimental Model of Diabetes Co-Existing with Metabolic Syndrome in Rats

    Directory of Open Access Journals (Sweden)

    Rajesh Kumar Suman

    2016-01-01

    Full Text Available Background. The incidence of metabolic syndrome co-existing with diabetes mellitus is on the rise globally. Objective. The present study was designed to develop a unique animal model that will mimic the pathological features seen in individuals with diabetes and metabolic syndrome, suitable for pharmacological screening of drugs. Materials and Methods. A combination of High-Fat Diet (HFD and low dose of streptozotocin (STZ at 30, 35, and 40 mg/kg was used to induce metabolic syndrome in the setting of diabetes mellitus in Wistar rats. Results. The 40 mg/kg STZ produced sustained hyperglycemia and the dose was thus selected for the study to induce diabetes mellitus. Various components of metabolic syndrome such as dyslipidemia (increased triglyceride, total cholesterol, LDL cholesterol, and decreased HDL cholesterol, diabetes mellitus (blood glucose, HbA1c, serum insulin, and C-peptide, and hypertension {systolic blood pressure} were mimicked in the developed model of metabolic syndrome co-existing with diabetes mellitus. In addition to significant cardiac injury, atherogenic index, inflammation (hs-CRP, decline in hepatic and renal function were observed in the HF-DC group when compared to NC group rats. The histopathological assessment confirmed presence of edema, necrosis, and inflammation in heart, pancreas, liver, and kidney of HF-DC group as compared to NC. Conclusion. The present study has developed a unique rodent model of metabolic syndrome, with diabetes as an essential component.

  10. Development of an Experimental Model of Diabetes Co-Existing with Metabolic Syndrome in Rats.

    Science.gov (United States)

    Suman, Rajesh Kumar; Ray Mohanty, Ipseeta; Borde, Manjusha K; Maheshwari, Ujwala; Deshmukh, Y A

    2016-01-01

    Background. The incidence of metabolic syndrome co-existing with diabetes mellitus is on the rise globally. Objective. The present study was designed to develop a unique animal model that will mimic the pathological features seen in individuals with diabetes and metabolic syndrome, suitable for pharmacological screening of drugs. Materials and Methods. A combination of High-Fat Diet (HFD) and low dose of streptozotocin (STZ) at 30, 35, and 40 mg/kg was used to induce metabolic syndrome in the setting of diabetes mellitus in Wistar rats. Results. The 40 mg/kg STZ produced sustained hyperglycemia and the dose was thus selected for the study to induce diabetes mellitus. Various components of metabolic syndrome such as dyslipidemia {(increased triglyceride, total cholesterol, LDL cholesterol, and decreased HDL cholesterol)}, diabetes mellitus (blood glucose, HbA1c, serum insulin, and C-peptide), and hypertension {systolic blood pressure} were mimicked in the developed model of metabolic syndrome co-existing with diabetes mellitus. In addition to significant cardiac injury, atherogenic index, inflammation (hs-CRP), decline in hepatic and renal function were observed in the HF-DC group when compared to NC group rats. The histopathological assessment confirmed presence of edema, necrosis, and inflammation in heart, pancreas, liver, and kidney of HF-DC group as compared to NC. Conclusion. The present study has developed a unique rodent model of metabolic syndrome, with diabetes as an essential component.

  11. Coagulopathy triggered autoimmunity: experimental antiphospholipid syndrome in factor V Leiden mice

    Science.gov (United States)

    2013-01-01

    Background We investigated interactions between genetically and autoimmune-mediated coagulopathies by inducing experimental antiphospholipid syndrome (eAPS) in mice carrying the factor V Leiden (FVL) mutation. Methods eAPS was induced in heterozygous and homozygous FVL transgenic mice (C57BL/6 background) by immunization with β2-glycoprotein I (β2-GPI). Autoantibody levels were measured at 1 and 5 months post-immunization. Mice were tested at 4 months post-immunization for behavior and cognitive function in the staircase, elevated plus-maze, and swim T-maze tests. Brains were removed and analyzed by immunohistochemistry for inflammatory markers and neurodegenerative processes. Results A single immunization with β2-GPI induced significantly higher and longer-lasting immune responses, and this was dependent on the number of FVL alleles. At 1 and 5 months post-immunization, levels of antibodies rose from 1.17 ± 0.07 to 1.62 ± 0.17 (optical density units; ODU) in homozygous FVL mice, compared with stable levels of 0.59 ± 0.17 and 0.48 ± 0.16 ODU in heterozygous FVL mice and a drop from 1.62 ± 0.21 to 0.61 ± 0.13 ODU in wild-type mice. Behavioral and cognitive clinical features of eAPS were also correlated with FVL allele load, as assessed by the elevated plus-maze (altered anxiety), staircase (hyperactivity and higher exploration), and swim T-maze (impaired learning) tests. Histological studies identified significant neurodegenerative changes in both grey and white matter in the eAPS-FVL brains. In spite of the potential interaction of two prothrombotic disease states, there were no ischemic lesions seen in this group. Conclusions The results indicate that genetically mediated coagulopathies increase the risk of developing coagulation-targeted autoimmune responses, and suggest the importance of antibody-mediated neurodegenerative processes in the brain in APS. PMID:23566870

  12. Reversal of experimental Laron Syndrome by xenotransplantation of microencapsulated porcine Sertoli cells.

    Science.gov (United States)

    Luca, Giovanni; Calvitti, Mario; Mancuso, Francesca; Falabella, Giulia; Arato, Iva; Bellucci, Catia; List, Edward O; Bellezza, Enrico; Angeli, Giovanni; Lilli, Cinzia; Bodo, Maria; Becchetti, Ennio; Kopchick, John J; Cameron, Don F; Baroni, Tiziano; Calafiore, Riccardo

    2013-01-10

    Recombinant human IGF-1 currently represents the only available treatment option for the Laron Syndrome, a rare human disorder caused by defects in the gene encoding growth hormone receptor, resulting in irreversibly retarded growth. Unfortunately, this treatment therapy, poorly impacts longitudinal growth (13% in females and 19% in males), while burdening the patients with severe side effects, including hypoglycemia, in association with the unfair chore of taking multiple daily injections that cause local intense pain. In this study, we have demonstrated that a single intraperitoneal graft of microencapsulated pig Sertoli cells, producing pig insulin-like growth factor-1, successfully promoted significant proportional growth in the Laron mouse, a unique animal model of the human Laron Syndrome. These findings indicate a novel, simply, safe and successful method for the cell therapy-based cure of the Laron Syndrome, potentially applicable to humans. Copyright © 2012 Elsevier B.V. All rights reserved.

  13. Nutritional effects of the serial transverse enteroplasty procedure in experimental short bowel syndrome

    DEFF Research Database (Denmark)

    Kaji, Tatsuru; Tanaka, Hiroaki; Wallace, Laurie E

    2009-01-01

    The serial transverse enteroplasty (STEP) procedure appears beneficial clinically, but the mechanism(s) underlying these effects remains unclear. The present study evaluated the nutritional, hormonal, and morphologic effects of the STEP procedure in a rodent model of short bowel syndrome....

  14. Genetic control of disease in an experimental model for Sjögren's syndrome

    DEFF Research Database (Denmark)

    Andersson, Åsa Inga Maria

    2009-01-01

    Sjögren's syndrome is an autoimmune disease with a complex etiology depending on hereditary and environmental factors. The disease is characterized by lymphocytic infiltration and inflammation in the salivary and lacrimal glands, leading to oral and ocular dryness. To understand the genetic...

  15. Hypothermic total liquid ventilation after experimental aspiration-associated acute respiratory distress syndrome.

    Science.gov (United States)

    Rambaud, Jérôme; Lidouren, Fanny; Sage, Michaël; Kohlhauer, Matthias; Nadeau, Mathieu; Fortin-Pellerin, Étienne; Micheau, Philippe; Zilberstein, Luca; Mongardon, Nicolas; Ricard, Jean-Damien; Terada, Megumi; Bruneval, Patrick; Berdeaux, Alain; Ghaleh, Bijan; Walti, Hervé; Tissier, Renaud

    2018-05-02

    Ultrafast cooling by total liquid ventilation (TLV) provides potent cardio- and neuroprotection after experimental cardiac arrest. However, this was evaluated in animals with no initial lung injury, whereas out-of-hospital cardiac arrest is frequently associated with early-onset pneumonia, which may lead to acute respiratory distress syndrome (ARDS). Here, our objective was to determine whether hypothermic TLV could be safe or even beneficial in an aspiration-associated ARDS animal model. ARDS was induced in anesthetized rabbits through a two-hits model including the intra-tracheal administration of a pH = 1 solution mimicking gastric content and subsequent gaseous non-protective ventilation during 90 min (tidal volume [Vt] = 10 ml/kg with positive end-expiration pressure [PEEP] = 0 cmH 2 O). After this initial period, animals either received lung protective gas ventilation (LPV; Vt = 8 ml/kg and PEEP = 5 cmH 2 O) under normothermic conditions, or hypothermic TLV (TLV; Vt = 8 ml/kg and end-expiratory volume = 15 ml/kg). Both strategies were applied for 120 min with a continuous monitoring of respiratory and cardiovascular parameters. Animals were then euthanized for pulmonary histological analyses. Eight rabbits were included in each group. Before randomization, all animals elicited ARDS with arterial oxygen partial pressure over inhaled oxygen fraction ratios (PaO 2 /FiO 2 ) below 100 mmHg, as well as decreased lung compliance. After randomization, body temperature rapidly decreased in TLV versus LPV group (32.6 ± 0.6 vs. 38.2 ± 0.4 °C after 15 min). Static lung compliance and gas exchanges were not significantly different in the TLV versus LPV group (PaO 2 /FiO 2  = 62 ± 4 vs. 52 ± 8 mmHg at the end of the procedure, respectively). Mean arterial pressure and arterial bicarbonates levels were significantly higher in TLV versus LPV. Histological analysis also showed significantly lower inflammation in

  16. Does Regional Lung Strain Correlate With Regional Inflammation in Acute Respiratory Distress Syndrome During Nonprotective Ventilation? An Experimental Porcine Study.

    Science.gov (United States)

    Retamal, Jaime; Hurtado, Daniel; Villarroel, Nicolás; Bruhn, Alejandro; Bugedo, Guillermo; Amato, Marcelo Britto Passos; Costa, Eduardo Leite Vieira; Hedenstierna, Göran; Larsson, Anders; Borges, João Batista

    2018-06-01

    It is known that ventilator-induced lung injury causes increased pulmonary inflammation. It has been suggested that one of the underlying mechanisms may be strain. The aim of this study was to investigate whether lung regional strain correlates with regional inflammation in a porcine model of acute respiratory distress syndrome. Retrospective analysis of CT images and positron emission tomography images using [F]fluoro-2-deoxy-D-glucose. University animal research laboratory. Seven piglets subjected to experimental acute respiratory distress syndrome and five ventilated controls. Acute respiratory distress syndrome was induced by repeated lung lavages, followed by 210 minutes of injurious mechanical ventilation using low positive end-expiratory pressures (mean, 4 cm H2O) and high inspiratory pressures (mean plateau pressure, 45 cm H2O). All animals were subsequently studied with CT scans acquired at end-expiration and end-inspiration, to obtain maps of volumetric strain (inspiratory volume - expiratory volume)/expiratory volume, and dynamic positron emission tomography imaging. Strain maps and positron emission tomography images were divided into 10 isogravitational horizontal regions-of-interest, from which spatial correlation was calculated for each animal. The acute respiratory distress syndrome model resulted in a decrease in respiratory system compliance (20.3 ± 3.4 to 14.0 ± 4.9 mL/cm H2O; p < 0.05) and oxygenation (PaO2/FIO2, 489 ± 80 to 92 ± 59; p < 0.05), whereas the control animals did not exhibit changes. In the acute respiratory distress syndrome group, strain maps showed a heterogeneous distribution with a greater concentration in the intermediate gravitational regions, which was similar to the distribution of [F]fluoro-2-deoxy-D-glucose uptake observed in the positron emission tomography images, resulting in a positive spatial correlation between both variables (median R = 0.71 [0.02-0.84]; p < 0.05 in five of seven animals

  17. Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Manal Micheal Thomas

    2018-01-01

    Conclusion: Our study concludes that mutations of NPHS2 gene are common among Egyptian children with SRNS. We support a model where ethnicity plays an important role in specific NPHS2 mutations, since a novel mutation was found in one patient in this study. Future study on a large number of Egyptian patients with SRNS is warranted to identify the actual genetic contribution of this gene in the development of SRNS in our population, which might help in patients' prognosis and management.

  18. Evaluation of Right Ventricle Function in Children With Primary Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Qiang Qin

    2010-06-01

    Conclusion: Right ventricle function was impaired in children with PNS. The characteristics were unrelated to blood pressure and IGF-1, but may be correlated with TNF-α and disease duration. Further studies are needed to evaluate the etiology and clinical implications of this abnormality.

  19. Cholecystitis and nephrotic syndrome complicating Epstein-Barr virus primary infection.

    Science.gov (United States)

    Rodà, Diana; Huici, Malka; Ricart, Sílvia; Vila, Jordi; Fortuny, Clàudia; Alsina, Laia

    2017-02-01

    Epstein-Barr virus (EBV) infection results in a spectrum of clinical manifestations. The host immune response to EBV plays a key role in the extent and degree of clinical features, which in children under 4 years of age are usually mild, non-specific and self-limiting. A 2-year-old boy in whom no known immune disorder could be found presented with acute acalculous cholecystitis, renal dysfunction with massive proteinuria, ascites, pleural effusion, minimal peripheral oedema and a severe systemic inflammatory response. Improvement occurred after initiation of corticosteroids and antiviral treatment with gancyclovir. In severely symptomatic or complicated EBV infection, a primary immunodeficiency must be suspected. If a primary immunodeficiency has been ruled out, the correct management of severe EBV infection in the immunocompetent host remains controversial.

  20. Is biopsy required prior to cyclophosphamide in steroid-sensitive nephrotic syndrome?

    NARCIS (Netherlands)

    Stadermann, M.B.; Lilien, M.R.; Kar, N.C.A.J. van de; Monnens, L.A.H.; Schröder, C.H.

    2003-01-01

    AIM: The present studywas designed to retrospectively evaluate the use of renal biopsies prior to cyclophosphamide therapy. The aim of the study was to determine in how many cases histological outcome of the biopsies had subsequently changed the decision to treat or refrain from treatment. PATIENTS

  1. Efficacy and Safety of Rituximab in Children with Refractory Nephrotic Syndrome; A Multicenter Clinical Trial

    Directory of Open Access Journals (Sweden)

    Yo Han Ahn

    2014-06-01

    Conclusions: In this interim analysis of clinical trial to evaluate the efficacy and safety of RTX in children with refractory NS, RTX treatment for refractory NS was safe and effective, especially in patients with DNS.

  2. A circadian rhythm of proteinuria in patients with a nephrotic syndrome

    NARCIS (Netherlands)

    Koopman, M. G.; Krediet, R. T.; Zuyderhoudt, F. J.; de Moor, E. A.; Arisz, L.

    1985-01-01

    Circadian variations in proteinuria were studied in 17 patients with different types of glomerulopathies. During 3-4 successive days urine was collected over periods of 3 h under standardized conditions. Thirteen of the 17 patients showed a circadian rhythm of their proteinuria with a maximum

  3. Type-1 diabetes mellitus, nephrotic syndrome, and vur with ace gene polymorphism

    International Nuclear Information System (INIS)

    Kiani, I.G.; Mansoor, Q.; Ismail, M.; Khan, A.N.; Butt, G.

    2012-01-01

    Objectives: To determine sensitivity, specificity and other operating characteristics of bedside three-point compression ultrasonography performed in emergency department by emergency physicians in comparison with duplex ultrasonography. Methods: The cross-sectional study at Rasoul-e-Akram Hospital in Tehran, Iran, prospectively evaluated 81 suspected patients of lower extremity deep vein thrombosis between March 2006 and March 2007. A trained second-year resident and one attending physician of emergency medicine evaluated the veins of all the patients with through compression ultrasonography. Then, a second-year resident of radiology assessed the patients with duplex ultrasonography. Finally, data were compared and quantitative and categorical variables were worked out along with other statistical analysis through SPSS version 16. Results: The mean age of the patients was 47.2 +- 18.6 years. When cases who lost the compressibility of at least one of their femoral or popliteal veins were considered to be positive, there were 80.2% diagnosed by compression ultrasonography and 79% by the duplex variety. Sensitivity, specificity and accuracy of the former in comparison with the latter were 85.9%, 41.2% and 84.6% respectively. Conclusion: Compression ultrasonography has relatively an acceptable sensitivity and accuracy level, but has low specificity in the diagnosis of deep vein thrombosis in the hands of Iranian emergency physicians. It is better to implement duplex ultrasonography whenever accessible. Otherwise, compression ultrasonography results should be compared with the results of duplex ultrasonography as soon as possible. (author)

  4. Rhino-bronchial syndrome in children: pathogenic correlations and clinical-experimental aspects.

    Science.gov (United States)

    Cassano, Michele; Cassano, Pasquale; Luigi, Mappa; Gelardi, Matteo; Farràs, Aline Castelante; Fiorella, Maria Luisa

    2006-03-01

    This study aims at defining the incidence of rhino-bronchial syndrome (RBS) in children in order both to verify the influence of nasal obstructions on the disease and to determine therapeutic strategies which may cure the syndrome effectively at its early stage. The investigation includes 128 non-allergic children with obstructive disorders (adenoid hypertrophy, septal deviation, etc.) and rhino-sinus inflammations associated with bronchopulmonary diseases (asthma, chronic cough, bronchopulmonary infections). Medical and/or surgical treatment was chosen in consideration of the type and entity of the patients' main nasal pathology. At least 1 year follow-up was provided for each case to establish the improvement in the disorders affecting both the lower and upper airways. The results were statistically assessed. Medical and mainly surgical treatment always cured the upper airways disorders in patients with chronic nasal obstruction and rhino-sinus inflammation. Improvement of bronchopulmonary disease was reported in about half of the patients (49.4%). Statistically significant results were obtained only in the group with recurrent bronchopulmonary infections (80.9%, pobstruction and rhino-sinus infections. In the population studied, among the lower airways disorders, only infective bronchopulmonary inflammation showed a significant correlation in the assessment between lower and upper airways disorders. In order to prevent the progression of the syndrome to serious pathologic events of the lower airways, a prompt and effective treatment of children's nasal disorders is thus recommended.

  5. Sodium Hypochlorite-Modified Hemosorbents in the Treatment of Limb Ischemia-Reperfusion Syndrome: Experimental Study

    Directory of Open Access Journals (Sweden)

    V. I. Sergiyenko

    2007-01-01

    Full Text Available Objective: to enhance the efficiency of treatment for limb ischemia-reperfusion syndrome in an experiment, by using the modified hemosorbents that have oxidative properties.Materials and methods. The investigation was conducted on 94 mongrel male dogs divided into 3 groups: 1 intact animals (n=20; 2 animals treated with hemocarboperfusion on the standard sorbent CKH-1K (n=36; 3 animals received hemocarboperfusion on sodium hypochloride-modified sorbent CKH-1K (n=38. A model of acute ischemia-reperfusion syndrome was created by the method of V. D. Pasechnikov et al. Partial oxygen tension (pO2 was determined by pin polarography. The levels of vasoactive eicosanoids were measured by enzyme immunoassay.Results. In the animals with leg ischemia syndrome, there is a significant pO2 reduction in the muscles of the hip and shin, which does not completely recover after reperfusion. Standard CKN-1K sorbent hemocarboperfusion reduces pO2 as compared with the reperfusion period while the use of modified CKH-1K hemosorbent increased pO2 in the study hind limb muscles to the level observed in intact animals. The development of ischemia and reperfusion is accompanied by the elevated levels of inflammatory mediators that have vasoconstrictive properties (thromboxane B2, endothelin-1, leukotrienes C4/D4/E4 and the lower concentration of the vasodilator prostacyclin. Standard CKN-1K sorbent hemocarboperfusion results in a further increase in the concentrations of thromboxane B2 and leukotrienes C4/D4/E4, a decrease in the concentration of endothelin-1, and an elevation of the levels of prostacyclin and prostaglandin E2. When sodium hypochlorite-modified CKN-1K sorbent hemocarboperfusion is employed, the concentrations of thromboxane B2, endothelin-1, and leukotrienes C4/D4/E4 decrease, and the level of prostacyclin increases.Conclusion. Hemocarboperfusion used in the treatment of leg ischemia-reperfusion syndrome leads to restoration of tissue oxygenation and

  6. Molecular genetics of experimental hypertension and the metabolic syndrome: from gene pathways to new therapies

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Kurtz, T. W.

    2007-01-01

    Roč. 49, č. 5 (2007), s. 941-952 ISSN 0194-911X R&D Projects: GA MZd(CZ) NR8545; GA ČR(CZ) GA301/04/0390; GA ČR(CZ) GA301/06/0028 Grant - others:The Howard Hughes Institute(US) HHMI55005624 Institutional research plan: CEZ:AV0Z50110509 Keywords : SHR * CD36 * metabolic syndrome Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 7.194, year: 2007

  7. Obese and anorexic yeasts: experimental models to understand the metabolic syndrome and lipotoxicity.

    Science.gov (United States)

    Kohlwein, Sepp D

    2010-03-01

    Lipotoxicity is the pathological consequence of lipid overflow in non-adipose tissue, mediated through reactive lipid moieties which may even lead to lipid-induced cell death (lipoapoptosis). This derailment of cellular and organismal fat homeostasis is the consequence of obesity due to continued over-feeding, and contributes substantially to the pathogenesis of insulin resistance, type 2 diabetes mellitus and cardiovascular disease, which are all components of the metabolic syndrome. Now, does yeast, a single-celled eukaryote, ever suffer from the metabolic syndrome and what can we potentially learn from studies in this organism about the underlying molecular mechanism that lead to lipid-associated pathologies in human cells? In this review I will summarize the remarkably conserved metabolic and regulatory processes relevant to establishing cellular energy and lipid homeostasis, as well as recent findings that provide detailed insights into the molecular mechanisms underlying fat-induced cellular malfunction and cell death, with potential implications also for mammalian cells. Copyright (c) 2010 Elsevier B.V. All rights reserved.

  8. Experimental reproduction of postweaning multisystemic wasting syndrome (PMWS) in pigs in Sweden and Denmark with a Swedish isolate of porcine circovirus type 2

    DEFF Research Database (Denmark)

    Hasslung, F.; Wallgren, P.; Hansen, Anne-Sofie Ladekjær

    2005-01-01

    An experimental model using 3-day-old snatch-farrowed colostrum-deprived piglets co-infected with porcine circovirus type 2 (PCV2) and porcine parvovirus (PPV) is at present one of the best methods to study factors affecting development of postweaning multisystemic wasting syndrome (PMWS). A Swed......An experimental model using 3-day-old snatch-farrowed colostrum-deprived piglets co-infected with porcine circovirus type 2 (PCV2) and porcine parvovirus (PPV) is at present one of the best methods to study factors affecting development of postweaning multisystemic wasting syndrome (PMWS...

  9. Parametric imaging of experimentally simulated Wolff-Parkinson-White syndrome conduction abnormalities in dogs: a concise communication

    Energy Technology Data Exchange (ETDEWEB)

    Weismueller, P.H.; Henze, E.; Adam, W.E.; Roth, J.; Bitter, F.; Stauch, M.

    1986-01-01

    In order to test the diagnostic potential of phase analysis of radionuclide ventriculography (RNV) for localizing accessory bundles in Wolff-Parkinson-White (WPW) syndrome, 24 experimental runs were performed in three open chest instrumented dogs. After a baseline study, WPW syndrome was simulated by stimulation at seven different sites around the base of the ventricles, and RNV's were obtained. Subsequent data processing including Fourier transformation allowed the localization of the site of the first inward motion of the ventricles by an isophasic wave display. In sinus rhythm, the septum contracted first. During ectopic premature ventricular stimulation by triggering the atrial signal, the phase scan was altered only when the stimulus was applied earlier than 20 ms before the expected QRS complex during sinus rhythm. During stimulation with fixed frequency, only the left lateral positions of the premature stimulation were detected by phase analysis with a sensitivity of 86%. Neither the antero- or posteroseptal nor the right ventricular premature contraction pattern could be exactly localized.

  10. Parametric imaging of experimentally simulated Wolff-Parkinson-White syndrome conduction abnormalities in dogs: a concise communication

    International Nuclear Information System (INIS)

    Weismueller, P.H.; Henze, E.; Adam, W.E.; Roth, J.; Bitter, F.; Stauch, M.

    1986-01-01

    In order to test the diagnostic potential of phase analysis of radionuclide ventriculography (RNV) for localizing accessory bundles in Wolff-Parkinson-White (WPW) syndrome, 24 experimental runs were performed in three open chest instrumented dogs. After a baseline study, WPW syndrome was simulated by stimulation at seven different sites around the base of the ventricles, and RNV's were obtained. Subsequent data processing including Fourier transformation allowed the localization of the site of the first inward motion of the ventricles by an isophasic wave display. In sinus rhythm, the septum contracted first. During ectopic premature ventricular stimulation by triggering the atrial signal, the phase scan was altered only when the stimulus was applied earlier than 20 ms before the expected QRS complex during sinus rhythm. During stimulation with fixed frequency, only the left lateral positions of the premature stimulation were detected by phase analysis with a sensitivity of 86%. Neither the antero- or posteroseptal nor the right ventricular premature contraction pattern could be exactly localized

  11. Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm.

    Science.gov (United States)

    Schneider, Maude; Eliez, Stephan; Birr, Julie; Menghetti, Sarah; Debbané, Martin; Van der Linden, Martial

    2016-03-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype.

  12. Efficacy and safety of PPC-5650 on experimental rectal pain in patients with irritable bowel syndrome

    DEFF Research Database (Denmark)

    Nielsen, Lecia Møller; Olesen, Anne Estrup; Andresen, Trine

    2015-01-01

    PPC-5650 is a new pharmacological agent that can modulate acid-sensing ion channel activity, leading to a reduction in the pain signal under up-regulated conditions. The non-clinical programme for PPC-5650 supported a role for this novel agent in the treatment of pain in patients with irritable...... bowel syndrome (IBS). In patients with IBS, the aims of the study were: (1) to assess the efficacy of a single bolus of PPC-5650 locally applied in the rectum using multi-modal stimulations of the recto sigmoid and (2) to assess the safety profile of PPC-5650. The study was a randomized, double......-blind, placebo-controlled, cross-over trial in patients with IBS, excluding females of child-bearing potential. The study consisted of a training visit, study visit 1 and 2 and a follow-up visit. Rectosigmoid electrical, thermal and mechanical stimulations were performed, pain perception was rated on a pain...

  13. Characterization of vascular complications in experimental model of fructose-induced metabolic syndrome.

    Science.gov (United States)

    El-Bassossy, Hany M; Dsokey, Nora; Fahmy, Ahmed

    2014-12-01

    Vascular dysfunction is an important complication associated with metabolic syndrome (MS). Here we fully characterized vascular complications in a rat model of fructose-induced MS. MS was induced by adding fructose (10%) to drinking water to male Wistar rats of 6 weeks age. Blood pressure (BP) and isolated aorta responses phenylephrine (PE), KCl, acetylcholine (ACh), and sodium nitroprusside (SNP) were recorded after 6, 9, and 12 weeks of fructose administration. In addition, serum levels of glucose, insulin, uric acid, tumor necrosis factor α (TNFα), lipids, advanced glycation end products (AGEs), and arginase activity were determined. Furthermore, aortic reactive oxygen species (ROS) generation, hemeoxygenase-1 expression, and collagen deposition were examined. Fructose administration resulted in a significant hyperinslinemia after 6 weeks which continued for 12 weeks. It was also associated with a significant increase in BP after 6 weeks which was stable for 12 weeks. Aorta isolated from MS animals showed exaggerated contractility to PE and KCl and impaired relaxation to ACh compared with control after 6 weeks which were clearer at 12 weeks of fructose administration. In addition, MS animals showed significant increases in serum levels of lipids, uric acid, AGEs, TNFα, and arginase enzyme activity after 12 weeks of fructose administration. Furthermore, aortae isolated from MS animals were characterized by increased ROS generation and collagen deposition. In conclusion, adding fructose (10%) to drinking water produces a model of MS with vascular complications after 12 weeks that are characterized by insulin resistance, hypertension, disturbed vascular reactivity and structure, hyperuricemia, dyslipidemia, and low-grade inflammation.

  14. Posterior leukoencephalopathy syndrome in poststretococcal acute glomerulonephritis

    International Nuclear Information System (INIS)

    Bazzino Borzone, F.; Pandolfo Arias, M.; Protasio Palomino, L.; Pujadas Ferrer, M.; Cerisola Cardozo, A.; Gonzalez, G.; Caggiani Malzone, M.; Rubio Santoro, I.

    2005-01-01

    Reversible posterior leukoencephalopathy (LEPR) is a clinical entity that affects radiation usually the white matter of the cerebral hemispheres. It is frequently associated with acute arterial hypertension and immunosuppressive therapy, among other causes. The clinical presentation is varied, with headache, nausea, vomiting, impaired consciousness and abnormal behavior, seizures and visual disturbances, symptoms that often regress. Computed tomography (CT) and magnetic resonance imaging (MRI) images show white matter edema predominantly in posterior regions of the brain. We present a 10 year old boy with leprosy in the course of a nephrotic syndrome secondary to acute diffuse glomerunefritis (GNDA) poststreptococcal. (author) [es

  15. Experimental infection of bats with Geomyces destructans causes white-nose syndrome.

    Science.gov (United States)

    Lorch, Jeffrey M; Meteyer, Carol U; Behr, Melissa J; Boyles, Justin G; Cryan, Paul M; Hicks, Alan C; Ballmann, Anne E; Coleman, Jeremy T H; Redell, David N; Reeder, DeeAnn M; Blehert, David S

    2011-10-26

    White-nose syndrome (WNS) has caused recent catastrophic declines among multiple species of bats in eastern North America. The disease's name derives from a visually apparent white growth of the newly discovered fungus Geomyces destructans on the skin (including the muzzle) of hibernating bats. Colonization of skin by this fungus is associated with characteristic cutaneous lesions that are the only consistent pathological finding related to WNS. However, the role of G. destructans in WNS remains controversial because evidence to implicate the fungus as the primary cause of this disease is lacking. The debate is fuelled, in part, by the assumption that fungal infections in mammals are most commonly associated with immune system dysfunction. Additionally, the recent discovery that G. destructans commonly colonizes the skin of bats of Europe, where no unusual bat mortality events have been reported, has generated further speculation that the fungus is an opportunistic pathogen and that other unidentified factors are the primary cause of WNS. Here we demonstrate that exposure of healthy little brown bats (Myotis lucifugus) to pure cultures of G. destructans causes WNS. Live G. destructans was subsequently cultured from diseased bats, successfully fulfilling established criteria for the determination of G. destructans as a primary pathogen. We also confirmed that WNS can be transmitted from infected bats to healthy bats through direct contact. Our results provide the first direct evidence that G. destructans is the causal agent of WNS and that the recent emergence of WNS in North America may represent translocation of the fungus to a region with a naive population of animals. Demonstration of causality is an instrumental step in elucidating the pathogenesis and epidemiology of WNS and in guiding management actions to preserve bat populations against the novel threat posed by this devastating infectious disease.

  16. Open lung approach vs acute respiratory distress syndrome network ventilation in experimental acute lung injury.

    Science.gov (United States)

    Spieth, P M; Güldner, A; Carvalho, A R; Kasper, M; Pelosi, P; Uhlig, S; Koch, T; Gama de Abreu, M

    2011-09-01

    Setting and strategies of mechanical ventilation with positive end-expiratory pressure (PEEP) in acute lung injury (ALI) remains controversial. This study compares the effects between lung-protective mechanical ventilation according to the Acute Respiratory Distress Syndrome Network recommendations (ARDSnet) and the open lung approach (OLA) on pulmonary function and inflammatory response. Eighteen juvenile pigs were anaesthetized, mechanically ventilated, and instrumented. ALI was induced by surfactant washout. Animals were randomly assigned to mechanical ventilation according to the ARDSnet protocol or the OLA (n=9 per group). Gas exchange, haemodynamics, pulmonary blood flow (PBF) distribution, and respiratory mechanics were measured at intervals and the lungs were removed after 6 h of mechanical ventilation for further analysis. PEEP and mean airway pressure were higher in the OLA than in the ARDSnet group [15 cmH(2)O, range 14-18 cmH(2)O, compared with 12 cmH(2)O; 20.5 (sd 2.3) compared with 18 (1.4) cmH(2)O by the end of the experiment, respectively], and OLA was associated with improved oxygenation compared with the ARDSnet group after 6 h. OLA showed more alveolar overdistension, especially in gravitationally non-dependent regions, while the ARDSnet group was associated with more intra-alveolar haemorrhage. Inflammatory mediators and markers of lung parenchymal stress did not differ significantly between groups. The PBF shifted from ventral to dorsal during OLA compared with ARDSnet protocol [-0.02 (-0.09 to -0.01) compared with -0.08 (-0.12 to -0.06), dorsal-ventral gradients after 6 h, respectively]. According to the OLA, mechanical ventilation improved oxygenation and redistributed pulmonary perfusion when compared with the ARDSnet protocol, without differences in lung inflammatory response.

  17. Experimental infection of bats with Geomyces destructans causes white-nose syndrome

    Science.gov (United States)

    Lorch, J.M.; Meteyer, C.U.; Behr, M.J.; Boyles, J.G.; Cryan, P.M.; Hicks, A.C.; Ballmann, A.E.; Coleman, J.T.H.; Redell, D.N.; Reeder, D.M.; Blehert, D.S.

    2011-01-01

    White-nose syndrome (WNS) has caused recent catastrophic declines among multiple species of bats in eastern North America. The disease's name derives from a visually apparent white growth of the newly discovered fungus Geomyces destructans on the skin (including the muzzle) of hibernating bats. Colonization of skin by this fungus is associated with characteristic cutaneous lesions that are the only consistent pathological finding related to WNS. However, the role of G. destructans in WNS remains controversial because evidence to implicate the fungus as the primary cause of this disease is lacking. The debate is fuelled, in part, by the assumption that fungal infections in mammals are most commonly associated with immune system dysfunction. Additionally, the recent discovery that G. destructans commonly colonizes the skin of bats of Europe, where no unusual bat mortality events have been reported, has generated further speculation that the fungus is an opportunistic pathogen and that other unidentified factors are the primary cause of WNS. Here we demonstrate that exposure of healthy little brown bats (Myotis lucifugus) to pure cultures of G. destructans causes WNS. Live G. destructans was subsequently cultured from diseased bats, successfully fulfilling established criteria for the determination of G. destructans as a primary pathogen. We also confirmed that WNS can be transmitted from infected bats to healthy bats through direct contact. Our results provide the first direct evidence that G. destructans is the causal agent of WNS and that the recent emergence of WNS in North America may represent translocation of the fungus to a region with a naive population of animals. Demonstration of causality is an instrumental step in elucidating the pathogenesis and epidemiology of WNS and in guiding management actions to preserve bat populations against the novel threat posed by this devastating infectious disease. ?? 2011 Macmillan Publishers Limited. All rights reserved.

  18. Hypogonadotropic hypogonadism and metabolic syndrome: insights from the high-fat diet experimental rabbit animal model.

    Science.gov (United States)

    Morelli, Annamaria; Vignozzi, Linda; Maggi, Mario

    2016-06-01

    The etiology of metabolic syndrome (MetS) is complex and involves the interplay between environmental, lifestyle and genetic determinants. MetS in men can be associated with a biochemical pattern of partial hypogonadotropic hypogonadism (HH). A similar pattern has been noted in both men and women with a variety of acute illnesses and chronic diseases, and there is ongoing debate regarding whether this phenomenon might adaptive (e.g. diverting resources from reproduction into survival), or maladaptive (e.g. anemia, sarcopenia, osteopenia and fatigue of androgen-deficiency amplify and widen the adverse consequences of the original disease-trigger). In women with hypothalamic amenorrhea (HA-HH secondary to chronic bioenergetic deficit from dietary restriction and/or intensive exercise), a genetic link to congenital HH (CHH) was recently established; women carrying monoallelic CHH gene mutations will typically not develop CHH, but are significantly more susceptible to HA. However, the male reproductive axis seems to be more resistant to similar environmental insults. In contrast, MetS-associated HH (mHH) is specifically a male phenomenon; the reproductive phenotype of females with MetS tending instead towards hyperandrogenism, rather than hypogonadism. The underlying pathogenic mechanisms responsible for mHH have not been clearly identified and, as yet, there has been no investigation of a potential role for CHH mutation carriage in its etiology. Over the decades, the use of either genetic- or diet-induced obesity and/or MetS animal models has greatly helped to illuminate the complex etiology of metabolic dysregulation, but the strong relationship between obesity/MetS and mHH in males has been largely neglected, with little or no information about the regulation of reproductive function by metabolic factors under conditions of bioenergetic excess. However, the pathogenic link between MetS and HH in males has been recently investigated in an animal model of high fat

  19. Nephrotic range proteinuria as a strong risk factor for rapid renal function decline during pre-dialysis phase in type 2 diabetic patients with severely impaired renal function.

    Science.gov (United States)

    Kitai, Yuichiro; Doi, Yohei; Osaki, Keisuke; Sugioka, Sayaka; Koshikawa, Masao; Sugawara, Akira

    2015-12-01

    Proteinuria is an established risk factor for progression of renal disease, including diabetic nephropathy. The predictive power of proteinuria, especially nephrotic range proteinuria, for progressive renal deterioration has been well demonstrated in diabetic patients with normal to relatively preserved renal function. However, little is known about the relationship between severity of proteinuria and renal outcome in pre-dialysis diabetic patients with severely impaired renal function. 125 incident dialysis patients with type 2 diabetes were identified. This study was aimed at retrospectively evaluating the impact of nephrotic range proteinuria (urinary protein-creatinine ratio above 3.5 g/gCr) on renal function decline during the 3 months just prior to dialysis initiation. In total, 103 patients (82.4 %) had nephrotic range proteinuria. The median rate of decline in estimated glomerular filtration rate (eGFR) in this study population was 0.98 (interquartile range 0.51-1.46) ml/min/1.73 m(2) per month. Compared to patients without nephrotic range proteinuria, patients with nephrotic range proteinuria showed significantly faster renal function decline (0.46 [0.24-1.25] versus 1.07 [0.64-1.54] ml/min/1.73 m(2) per month; p = 0.007). After adjusting for gender, age, systolic blood pressure, serum albumin, calcium-phosphorus product, hemoglobin A1c, and use of an angiotensin-converting enzyme inhibitor or an angiotensin II receptor blocker, patients with nephrotic range proteinuria showed a 3.89-fold (95 % CI 1.08-14.5) increased risk for rapid renal function decline defined as a decline in eGFR ≥0.5 ml/min/1.73 m(2) per month. Nephrotic range proteinuria is the predominant renal risk factor in type 2 diabetic patients with severely impaired renal function receiving pre-dialysis care.

  20. Pathogenesis, Experimental Models and Contemporary Pharmacotherapy of Irritable Bowel Syndrome: Story About the Brain-Gut Axis

    Science.gov (United States)

    Tsang, S.W.; Auyeung, K.K.W.; Bian, Z.X.; Ko, J.K.S.

    2016-01-01

    Background Although the precise pathophysiology of irritable bowel syndrome (IBS) remains unknown, it is generally considered to be a disorder of the brain-gut axis, representing the disruption of communication between the brain and the digestive system. The present review describes advances in understanding the pathophysiology and experimental approaches in studying IBS, as well as providing an update of the therapies targeting brain-gut axis in the treatment of the disease. Methods Causal factors of IBS are reviewed. Following this, the preclinical experimental models of IBS will be introduced. Besides, both current and future therapeutic approaches of IBS will be discussed. Results When signal of the brain-gut axis becomes misinterpreted, it may lead to dysregulation of both central and enteric nervous systems, altered intestinal motility, increased visceral sensitivity and consequently contributing to the development of IBS. Interference of the brain-gut axis can be modulated by various psychological and environmental factors. Although there is no existing animal experiment that can represent this complex multifactorial disease, these in vivo models are clinically relevant readouts of gastrointestinal functions being essential to the identification of effective treatments of IBS symptoms as well as their molecular targets. Understanding the brain-gut axis is essential in developing the effective therapy for IBS. Therapies include improvement of GI motor functions, relief of visceral hypersensitivity and pain, attenuation of autonomic dysfunctions and suppression of mucosal immune activation. Conclusion Target-oriented therapies that provide symptomatic, psychological and physiological benefits could surely help to improve the quality of life of IBS patients. PMID:27009115

  1. High-cervical spinal cord electrical stimulation in brain low perfusion syndromes: experimental basis and preliminary clinical report.

    Science.gov (United States)

    Broseta, J; García-March, G; Sánchez-Ledesma, M J; Gonçalves, J; Silva, I; Barcia, J A; Llácer, J L; Barcia-Salorio, J L

    1994-01-01

    Previous studies of our group showed that C1-C2 spinal cord stimulation increases carotid and brain blood flow in normal conditions in the goat and dog and it has a beneficial vasomotor effect in a model of vasospasm in the rat. For further clinical application it seemed rational to investigate the possible vascular changes mediated by this technique in experimental brain infarction. To this aim, 45 New Zealand rabbits were used. Brain infarction was produced by bilateral carotid ligation in 15, unilateral microcoagulation of the middle cerebral artery in 15 and by microcoagulation of the vertebral artery at the craniocervical junction in the other 15. One week later, following daily clinical scoring and cortical and posterior fossa blood flow readings by laser Doppler, a period of 120 min of right C1-C2 spinal cord electric stimulation was performed. A mean of 27% increase in previous blood flow recordings was obtained at the right hemisphere and a mean of 32% in the posterior fossa. This procedure was used in 10 patients presenting with various cerebral low perfusion syndromes. Though not constant, an increase in alertness, retention, speech, emotional lability and performance in skilled acts was achieved. No MR changes were observed, though SPECT readings showed an increase in blood flow in the penumbral perilesional area.

  2. Experimental studies on the pathogenesis of adult respiratory distress syndrome using sup 111 In-labeled polymorphonuclear leukocytes

    Energy Technology Data Exchange (ETDEWEB)

    Tsubouchi, Taijiro [Keio Univ., Tokyo (Japan). School of Medicine

    1990-06-01

    This study was undertaken to clarify the mechanism of the development of adult respiratory distress syndrome (ARDS) and to improve its treatment by studying the role of polymorphonuclear leukocytes (PMNs) in an endotoxin shock model of rats. PMNs from a rat were labeled with {sup 111}In by the use of tropolone and were injected into rats pretreated with endotoxin. Then the biodistribution of PMNs was studied by either counting the radioactivity of excised organs or using a gamma scintillation camera on the anesthetized rats. The two methods facilitated to observe the distribution of PMNs faily a short time after the injection of endotoxin. There was a significantly higher radioactivity in the lungs of the endotoxin group than in the control group. The accumulation of PMNs into the lungs occurred immediately after endotoxin injection. In rats depleted of the complement by cobra venom factor (CVF), an increase in radioactivity in the lung was not observed. These results indicate that the complement system is involved in the pathogenesis of ARDS. When rats were injected with methylprednisolone, the pulmonary accumulation of {sup 111}In-PMNs by endotoxin were suppressed. This is an experimental support of possible beneficial effects of corticosteroids in the treatment of ARDS. (author).

  3. Exposure-based cognitive behavioral therapy for irritable bowel syndrome. A single-case experimental design across 13 subjects.

    Science.gov (United States)

    Boersma, Katja; Ljótsson, Brjánn; Edebol-Carlman, Hanna; Schrooten, Martien; Linton, Steven J; Brummer, Robert J

    2016-11-01

    Irritable bowel syndrome (IBS) is a highly prevalent disorder with a significant impact on quality of life. The presence of psychological symptoms in IBS patients such as catastrophic worry and behavioral avoidance suggests the possible efficacy of cognitive behavioral interventions. Exposure-based cognitive behavioral therapy (CBT) has proven to be a promising approach but has only been investigated in a few studies and mainly via the Internet. Therefore, the aims of this study were to extend and replicate previous findings and to evaluate whether an individual, face-to-face, exposure-based CBT leads to improvement in gastrointestinal symptoms, pain catastrophizing, avoidance behavior and quality of life in IBS patients. Thirteen patients with IBS according to Rome III criteria participated in a single-case experimental study using a five-week baseline and a subsequent twelve-session intervention phase focusing on psycho-education, mindfulness and in vivo exposure. Standardized measurement of gastrointestinal symptoms, pain catastrophizing, avoidance behavior and quality of life was conducted weekly during baseline as well as intervention phase and at six-month follow-up. Results showed that over 70% of patients improved significantly on gastrointestinal symptoms, pain catastrophizing, and quality of life. Effects on avoidance behavior were modest. These results strengthen and extend earlier findings and provide further support for the efficacy of exposure-based strategies for IBS.

  4. Review: fetal programming of polycystic ovary syndrome by androgen excess: evidence from experimental, clinical, and genetic association studies.

    Science.gov (United States)

    Xita, Nectaria; Tsatsoulis, Agathocles

    2006-05-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder of premenopausal women, characterized by hyperandrogenism, polycystic ovaries, and chronic anovulation along with insulin resistance and abdominal obesity as frequent metabolic traits. Although PCOS manifests clinically during adolescence, emerging data suggest that the natural history of PCOS may originate in intrauterine life. Evidence from experimental, clinical, and genetic research supporting the hypothesis for the fetal origins of PCOS has been analyzed. Female primates, exposed in utero to androgen excess, exhibit the phenotypic features of PCOS during adult life. Clinical observations also support a potential fetal origin of PCOS. Women with fetal androgen excess disorders, including congenital 21-hydroxylase deficiency and congenital adrenal virilizing tumors, develop features characteristic of PCOS during adulthood despite the normalization of androgen excess after birth. The potential mechanisms of fetal androgen excess leading to a PCOS phenotype in humans are not clearly understood. However, maternal and/or fetal hyperandrogenism can provide a plausible mechanism for fetal programing of PCOS, and this, in part, may be genetically determined. Thus, genetic association studies have indicated that common polymorphic variants of genes determining androgen activity or genes that influence the availability of androgens to target tissues are associated with PCOS and increased androgen levels. These genomic variants may provide the genetic link to prenatal androgenization in human PCOS. Prenatal androgenization of the female fetus induced by genetic and environmental factors, or the interaction of both, may program differentiating target tissues toward the development of PCOS phenotype in adult life.

  5. A Study of the Protective Effect of Triticum aestivum L. in an Experimental Animal Model of Chronic Fatigue Syndrome.

    Science.gov (United States)

    Borah, Mukundam; Sarma, Phulen; Das, Swarnamoni

    2014-10-01

    Oxidative stress plays a major role in the pathogenesis of chronic fatigue syndrome (CFS). Keeping in view the proven antioxidant activity of Triticum aestivum L., this study has been undertaken to explore the potential therapeutic benefit of this plant in the treatment of CFS. To study the protective effect of the ethanolic extract of the leaves of Triticum aestivum (EETA) in an experimental mice model of CFS. Five groups of albino mice (20-25 g) were selected for the study, with five animals in each group. Group A served as the naïve control and Group B served as the stressed control. Groups C and D received EETA (100 mg/kg and 200 mg/kg b.w.). Group E received imipramine (20 mg/kg b.w.). Except for Group A, mice in each group were forced to swim 6 min each for 7 days to induce a state of chronic fatigue. Duration of immobility was measured on every alternate day. After 7 days, various behavioral tests (mirror chamber and elevated plus maize test for anxiety, open field test for locomotor activity) and biochemical estimations (malondialdehyde [MDA] and catalase activity) in mice brain were performed. Forced swimming in the stressed group resulted in a significant increase in immobility period, decrease in locomotor activity and elevated anxiety level. The brain homogenate showed significantly increased MDA and decreased catalase levels. The extract-treated groups showed significantly (P < 0.05) improved locomotor activity, decreased anxiety level, elevated catalase levels and reduction of MDA. The study confirms the protective effects of EETA in CFS.

  6. [ACTION OF L-CARNITINE, CORVITIN AND THEIR COMBINATION ON FUNCTIONAL STATE OF LIVER IN EXPERIMENTAL MODEL OF REYE SYNDROME IN RATS].

    Science.gov (United States)

    Ghonghadze, M; Antelava, N; Liluashvili, K; Okujava, M; Pachkoria, K

    2017-02-01

    Administration of Aacetylsalicylic acid in children with viral infections (influence B, chickenpox) can be related with development of Reye syndrome - severe encephalopathy and liver insufficiency with mortality in 50% of cases. During Reye syndrome most important is deficiency of carnitine and hepatocyte damage. Decreased amount of carnitine impairs the energy function of mitochondria and gluconeogenesis as well as production of urea. As a result develops toxic encephalopathy and liver insufficiency. The goal of the research was assessment of efficacy of L-Carnitine, Corvitin and their combination on functional state of liver in experimental model of Reye Syndrome in rats. The study was performed on mature white male Wistar rates with body mass 150-180g. 50 rats were randomly divided into 5 groups (10 rats in each group). The model of Reye syndrome was induced in accordance with A.Vengersky's method. Intraperitoneal administration of 4-pentenoic acid was performed once daily during seven days, the used dosage was 20mg/kg. The treatment of toxic hepatitis was carried with intraperitoneal administration of L-Carnitine 300mg/kg, Corvitine 100mg/kg and concurrent administration of these drugs. Monotherapy with Corvitin and L-Carnitin successfully improved liver function and equally decreased indicators of hepatocyte's cytolyses and increased levels of glucose and urea. The markers of cholestasis was slightly more improved during use of L-Carnitine. Simultaneous use of both drugs was effective in rats with Reye syndrome, indicators of liver damage normalized and herewith, no mortality outcome was observed. The most pronounced hepatoprotective effect of concurrent administration of L-Carnitine and Corvitin may be due to synergic action of these drugs and such regime can be recommended for correction of liver function during Reye syndrome.

  7. In vivo and in vitro attenuation of naloxone-precipitated experimental opioid withdrawal syndrome by insulin and selective KATP channel modulator.

    Science.gov (United States)

    Singh, Prabhat; Sharma, Bhupesh; Gupta, Surbhi; Sharma, B M

    2015-01-01

    Opiate exposure for longer duration develops state of dependence in humans and animals, which is revealed by signs and symptoms of withdrawal precipitated by opioid receptor antagonists. The sudden withdrawal of opioids produces a withdrawal syndrome in opioid-dependent subjects. Insulin and ATP-sensitive potassium (KATP) channel-mediated glucose homeostasis have been shown to modulate morphine withdrawal. Present study has been structured to investigate the role of insulin and pharmacological modulator of KATP channel (gliclazide) in experimental morphine withdrawal syndrome, both invivo and invitro. In this study, naloxone-precipitated morphine withdrawal syndrome in mice (invivo) as well as in rat ileum (invitro) were utilized to assess opioid withdrawal phenomenon. Morphine withdrawal syndromes like jumping and rearing frequency, forepaw licking, circling, fore paw tremor, wet dog shake, sneezing, overall morphine withdrawal severity (OMWS), serum glucose, brain malondialdehyde (MDA), glutathione (GSH), nitrite/nitrate, and calcium (Ca(+2)) were assessed. Naloxone has significantly increased morphine withdrawal syndrome, both invivo and invitro. Insulin and gliclazide have significantly attenuated, naloxone induced behavioral changes like jumping and rearing frequency, forepaw licking, wet dog shake, sneezing, straightening, circling, OMWS, and various biochemical impairments such as serum glucose, brain MDA, GSH, nitrite/nitrate, and Ca(+2) in morphine-dependent animals (invivo). In vitro, insulin and gliclazide have significantly reduced naloxone-induced contraction in morphine-withdrawn rat ileum preparation. Insulin and gliclazide (KATP channel blocker) have attenuated naloxone-precipitated morphine withdrawal syndrome, both invivo and invitro. Thus, insulin and KATP channel modulation may provide new avenues for research in morphine withdrawal.

  8. The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study.

    Science.gov (United States)

    Achelrod, Dmitrij; Blankart, Carl Rudolf; Linder, Roland; von Kodolitsch, Yskert; Stargardt, Tom

    2014-06-23

    Marfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To date, there has been no study analysing the costs of Marfan syndrome from a sickness fund and societal perspective. To estimate excess health resource utilisation, direct (non-)medical and indirect costs attributable to Marfan syndrome from a healthcare payer and a societal perspective in Germany in 2008. A retrospective matched cohort study design is applied, using claims data. For isolating the causal effect of Marfan syndrome on excess costs, a genetic matching algorithm was used to reduce differences in observable characteristics between Marfan syndrome patients and the control group. 892 patients diagnosed with Marfan syndrome (ICD-10 Q87.4) were matched from a pool of 26,645 control individuals. After matching, we compared health resource utilisation and costs. From the sickness fund perspective, an average Marfan syndrome patient generates excess annual costs of €2496 compared with a control individual. From the societal perspective, excess annual costs amount to €15,728. For the sickness fund, the strongest cost drivers are inpatient treatment and care by non-physicians. From the sickness fund perspective, the third (25-41 years) and first (0-16 years) age quartiles reveal the greatest surplus in total costs. Marfan syndrome patients have 39% more physician contacts, a 153% longer average length of hospital stay, 119% more inpatient stays, 33% more prescriptions, 236% more medical imaging and 20% higher average prescription costs than control individuals. Depending on the prevalence, the economic impact from the sickness fund perspective ranges between €24.0 million and €61.4 million, whereas the societal economic impact extends from €151.3 million to €386.9 million. Relative to its low frequency, Marfan syndrome requires high healthcare

  9. Arthropathy and proteinuria: nail-patella syndrome revisited

    Directory of Open Access Journals (Sweden)

    Albishri, Jamal

    2014-11-01

    Full Text Available [english] Nail-patella syndrome (NPS is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Although diagnosis can be made at birth, it is often missed, presumably due to the rarity of the condition. A 35-year-old female presented to our clinic with history of small joint pain of 6 months duration. In addition she complained of pedal edema off and on for the last 12 years. Prior to her current presentation she had been managed by a local doctor symptomatically. On evaluation, a nephrotic syndrome was obvious, but no secondary cause could be found. However, her physical examination was characteristic of NPS and keeping in view the autosomal dominant nature of the disorder all her three siblings were screened who too showed classical features of NPS. This rare syndrome as a cause of nephrotic range proteinuria is discussed in this report. The report underlines the importance of a good physical examination in a given clinical setting.

  10. Nightly and yearly bat activity before and after white-nose syndrome on the Fernow Experimental Forest in West Virginia

    Science.gov (United States)

    Joshua B. Johnson; Jane L. Rodrigue; W. Mark. Ford

    2013-01-01

    In the central Appalachians, conservation concern about bat communities and their population status has become increasingly more significant with the advent and spread of white-nose syndrome (WNS). However, managers often are hampered in their response to WNS by the lack of information on pre-WNS local distribution, abundance, or activity patterns for most bat species...

  11. Mesenchymal Stem Cells From Bone Marrow, Adipose Tissue, and Lung Tissue Differentially Mitigate Lung and Distal Organ Damage in Experimental Acute Respiratory Distress Syndrome.

    Science.gov (United States)

    Silva, Johnatas D; Lopes-Pacheco, Miquéias; Paz, Ana H R; Cruz, Fernanda F; Melo, Elga B; de Oliveira, Milena V; Xisto, Débora G; Capelozzi, Vera L; Morales, Marcelo M; Pelosi, Paolo; Cirne-Lima, Elizabeth; Rocco, Patricia R M

    2018-02-01

    Mesenchymal stem cells-based therapies have shown promising effects in experimental acute respiratory distress syndrome. Different mesenchymal stem cells sources may result in diverse effects in respiratory diseases; however, there is no information regarding the best source of mesenchymal stem cells to treat pulmonary acute respiratory distress syndrome. We tested the hypothesis that mesenchymal stem cells derived from bone marrow, adipose tissue, and lung tissue would lead to different beneficial effects on lung and distal organ damage in experimental pulmonary acute respiratory distress syndrome. Animal study and primary cell culture. Laboratory investigation. Seventy-five Wistar rats. Wistar rats received saline (control) or Escherichia coli lipopolysaccharide (acute respiratory distress syndrome) intratracheally. On day 2, acute respiratory distress syndrome animals were further randomized to receive saline or bone marrow, adipose tissue, or lung tissue mesenchymal stem cells (1 × 10 cells) IV. Lung mechanics, histology, and protein levels of inflammatory mediators and growth factors were analyzed 5 days after mesenchymal stem cells administration. RAW 264.7 cells (a macrophage cell line) were incubated with lipopolysaccharide followed by coculture or not with bone marrow, adipose tissue, and lung tissue mesenchymal stem cells (10 cells/mL medium). Regardless of mesenchymal stem cells source, cells administration improved lung function and reduced alveolar collapse, tissue cellularity, collagen, and elastic fiber content in lung tissue, as well as decreased apoptotic cell counts in liver. Bone marrow and adipose tissue mesenchymal stem cells administration also reduced levels of tumor necrosis factor-α, interleukin-1β, keratinocyte-derived chemokine, transforming growth factor-β, and vascular endothelial growth factor, as well as apoptotic cell counts in lung and kidney, while increasing expression of keratinocyte growth factor in lung tissue

  12. Effects on Pulmonary Vascular Mechanics of Two Different Lung-Protective Ventilation Strategies in an Experimental Model of Acute Respiratory Distress Syndrome.

    Science.gov (United States)

    Santos, Arnoldo; Gomez-Peñalver, Eva; Monge-Garcia, M Ignacio; Retamal, Jaime; Borges, João Batista; Tusman, Gerardo; Hedenstierna, Goran; Larsson, Anders; Suarez-Sipmann, Fernando

    2017-11-01

    To compare the effects of two lung-protective ventilation strategies on pulmonary vascular mechanics in early acute respiratory distress syndrome. Experimental study. University animal research laboratory. Twelve pigs (30.8 ± 2.5 kg). Acute respiratory distress syndrome was induced by repeated lung lavages and injurious mechanical ventilation. Thereafter, animals were randomized to 4 hours ventilation according to the Acute Respiratory Distress Syndrome Network protocol or to an open lung approach strategy. Pressure and flow sensors placed at the pulmonary artery trunk allowed continuous assessment of pulmonary artery resistance, effective elastance, compliance, and reflected pressure waves. Respiratory mechanics and gas exchange data were collected. Acute respiratory distress syndrome led to pulmonary vascular mechanics deterioration. Four hours after randomization, pulmonary vascular mechanics was similar in Acute Respiratory Distress Syndrome Network and open lung approach: resistance (578 ± 252 vs 626 ± 153 dyn.s/cm; p = 0.714), effective elastance, (0.63 ± 0.22 vs 0.58 ± 0.17 mm Hg/mL; p = 0.710), compliance (1.19 ± 0.8 vs 1.50 ± 0.27 mL/mm Hg; p = 0.437), and reflection index (0.36 ± 0.04 vs 0.34 ± 0.09; p = 0.680). Open lung approach as compared to Acute Respiratory Distress Syndrome Network was associated with improved dynamic respiratory compliance (17.3 ± 2.6 vs 10.5 ± 1.3 mL/cm H2O; p mechanics similarly. The use of higher positive end-expiratory pressures in the open lung approach strategy did not worsen pulmonary vascular mechanics, improved lung mechanics, and gas exchange but at the expense of a lower cardiac index.

  13. DYNAMICS OF HEAT SHOCK PROTEIN-70 SYNTHESIS IN LUNGS DEPENDS ON THE STAGE OF EXPERIMENTAL RESPIRATORY DISTRESS SYNDROME

    Directory of Open Access Journals (Sweden)

    E. V. Prutkina

    2013-01-01

    Full Text Available Abstract. Acute respiratory distress syndrome (ARDS was reproduced in a rat model, by means of intratracheal instillation of granulocyte lysates (a method protected by Russian patent. Expression of HSP-70 in lung cells was determined by immunohistochemical technique at each ARDS stage. A significant increase of HSP-70 expression by all cell types was revealed during exudative stage, being more intensive in alveolocytes type 1, and less expressed in endothelium. During proliferative stage of the disorder, a decreased HSP-70 expression was noted in all cell populations. At these terms, it proved to be high in neutrophils and alveveolocytes type 1, whereas lower expression was registered in endothelium. At fibrotic stage, HSP-70 synthesis remained at high levels in neutrophils, macrophages, fibroblasts and alveolocytes type 1. Endothelium and alveolocytes type 2 exhibited a recurrent increase at fibrotic stage of ARDS, however it did not reach the values typical to the initial stage of the syndrome.

  14. Periodic fever: From Still's disease to Muckle-Wells syndrome.

    Science.gov (United States)

    Solís Marquínez, Marta Nataya; García Fernández, Edilia; Morís de la Tassa, Joaquín

    2017-06-02

    Muckle-Wells syndrome is a systemic autoinflammatory disease included in the group of hereditary periodic febrile syndromes. We report the case of a patient with this rare disease to call the attention to the singularity of this condition, its low incidence, its atypical presentation and the subsequent delay in the diagnosis, which is reached when late and devastating consequences have taken place. In this case, the first-line therapy, anti-interleukin 1 (IL-1), failed to control the disease. Nevertheless, the IL-6 inhibitor, tocilizumab, proved effective, achieving the total remission of nephrotic syndrome associated with AA secondary amyloidosis, changing the bleak prognosis of this disease. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  15. CP-25 Alleviates Experimental Sjögren's Syndrome Features in NOD/Ltj Mice and Modulates T Lymphocyte Subsets.

    Science.gov (United States)

    Gu, Fang; Xu, Shixia; Zhang, Pengying; Chen, Xiaoyun; Wu, Yujing; Wang, Chun; Gao, Mei; Si, Min; Wang, Xinming; Heinrich, Korner; Wu, Huaxun; Wei, Wei

    2018-04-17

    Primary Sjögren's syndrome (pSS) is a chronic inflammatory autoimmune illness of the moisture-producing glands such as salivary glands that is characterized by various immune abnormalities. The aetiology of pSS remains unclear and there is no curative agent. In this study, we investigated the putative therapeutic effects on a NOD/Ltj mouse model of Sjögren's syndrome-like disorders of an ester derivative of paeoniflorin, paeoniflorin-6'O-benzene (termed CP-25). Our study showed that CP-25 alleviated effectively clinical manifestations in NOD/Ltj mice resulting, for example, in increased salivary flow and reduced histopathological scores. Furthermore, CP-25 decreased lymphocyte viability in NOD/Ltj mice and attenuated the infiltration of Th1 cells and Th2 cells into the salivary glands of NOD/Ltj mice. In the spleen on NOD/Ltj mice, CP-25 skewed the ratio of Th17 and regulatory T cells towards regulatory T cells. After treatment, concentrations of anti-La/SSB and IgG antibodies were reduced and the titre of the inflammatory cytokines IFN-γ, IL-4, IL-6 and IL-17A in the serum on NOD/Ltj mice was alleviated. Thus, we define CP-25 as a novel compound that is a potent therapeutic agent for pSS by modulating T lymphocyte subsets. Future studies will validate the use of CP-25 as a therapeutic strategy for the treatment of pSS. © 2018 Nordic Association for the Publication of BCPT (former Nordic Pharmacological Society).

  16. Valsartan attenuates cardiac and renal hypertrophy in rats with experimental cardiorenal syndrome possibly through down-regulating galectin-3 signaling.

    Science.gov (United States)

    Zhang, M-J; Gu, Y; Wang, H; Zhu, P-F; Liu, X-Y; Wu, J

    2016-01-01

    Aortocaval fistula (AV) induced chronic volume overload in rats with preexisting mild renal dysfunction (right kidney remove: UNX) could mimic the type 4 cardiorenal syndrome (CRS): chronic renocardiac syndrome. Galectin-3, a β-galactoside binding lectin, is an emerging biomarker in cardiovascular as well as renal diseases. We observed the impact of valsartan on cardiac and renal hypertrophy and galectin-3 changes in this model. Adult male Sprague-Dawley (SD) rats (200-250 g) were divided into S (Sham, n = 7), M (UNX+AV, n = 7) and M+V (UNX+AV+valsartan, n = 7) groups. Eight weeks later, cardiac function was measured by echocardiography. Renal outcome was measured by glomerular filtration rate, effective renal plasma flow, renal blood flow and 24 hours albuminuria. Immunohistochemistry and real-time PCR were used to evaluate the expressions of galectin-3 in heart and renal. Cardiac hypertrophy and renal hypertrophy as well as cardiac enlargement were evidenced in this AV shunt induced chronic volume overload rat model with preexisting mild renal dysfunction. Cardiac and renal hypertrophy were significantly attenuated but cardiac enlargement was unaffected by valsartan independent of its blood pressure lowering effect. 24 hours urine albumin was significantly increased, which was significantly reduced by valsartan in this model. Immunohistochemistry and real-time PCR evidenced significantly up-regulated galectin-3 expression in heart and kidney and borderline increased myocardial collagen I expression, which tended to be lower post valsartan treatment. Up-regulated galectin-3 signaling might also be involved in the pathogenesis in this CRS model. The beneficial effects of valsartan in terms of attenuating cardiac and renal hypertrophy and reducing 24 hours albumin in this model might partly be mediated through down-regulating galectin-3 signal pathway.

  17. Experimental reproduction of beak atrophy and dwarfism syndrome by infection in cherry valley ducklings with a novel goose parvovirus-related parvovirus.

    Science.gov (United States)

    Chen, Hao; Dou, Yanguo; Tang, Yi; Zheng, Xiaoqiang; Niu, Xiaoyu; Yang, Jing; Yu, Xianglong; Diao, Youxiang

    2016-02-01

    Infection of clinically susceptible ducks, including cherry valley and Muscovy ducks, with a novel goose parvovirus (GPV)-related virus (N-GPV) can result in beak atrophy and dwarfism syndrome (BADS). To obtain new insights into the host range and pathogenic potential of this novel waterfowl parvovirus, cherry valley ducklings (n=20) were experimentally infected with N-GPV strain SDLC01. An equal number of ducklings served as uninfected controls. The appearance of clinical signs, histopathological changes, viral shedding, and seroconversion was monitored for 20 days post-infection. Infection status of all ducks was monitored using indirect ELISA, virus neutralization test, nested PCR, clinical indicators, and microscopic examination. Three ducks developed the typical clinical, gross, and histological changes of BADS. By study day 6, the infected ducks had seroconverted to N-GPV. The antibodies raised were neutralizing against the SDLC01 strain in vitro. Here we successfully developed an experimental infection model for studying the pathogenicity and role of N-GPV in BADS. Copyright © 2015 Elsevier B.V. All rights reserved.

  18. An unusual case of calcineurine inhibitor pain syndrome.

    Science.gov (United States)

    Nickavar, Azar; Mehrazma, Mitra; Hallaji, Farideh

    2014-09-01

    Cyclosporine induced pain syndrome (CIPS) is a newly diagnosed complication of calcineurine inhibitors, mainly observed in solid organ and hematopoetic transplantations. The present case is a male child with steroid resistant nephrotic syndrome on low therapeutic level cyclosporine treatment. He presented with intractable and debilitating leg pain, with no reported history of previous injury or trauma. The pain was reluctant to antimicrobial and sedative treatment. MRI revealed bone marrow and soft tissue edema in the mid shaft of patient's right leg. Inspite of unusual manifestations, CIPS was suggested and cyclosporine discontinued. However, the pain did not improve and was resistant to calcium blocker. Subsequently, core decompression was performed as an unusual treatment of CIPS, revealing normal bone morphology. The pain improved rapidly and the patient was discharged a few days later.

  19. Tolerogenic β2-glycoprotein I DNA vaccine and FK506 as an adjuvant attenuates experimental obstetric antiphospholipid syndrome.

    Science.gov (United States)

    Chao, Ya-Hsuan; Chen, Der-Yuan; Lan, Joung-Liang; Tang, Kuo-Tung; Lin, Chi-Chien

    2018-01-01

    DNA vaccines have recently emerged as a therapeutic agent for treating autoimmune diseases, such as multiple sclerosis. Antiphospholipid antibody syndrome (APS) is an autoimmune disease characterized by β2-glycoprotein I (β2-GPI)-targeting antiphospholipid antibodies (APAs) and vascular thrombosis or obstetrical complications. To examine the therapeutic potential of a β2-GPI DNA vaccine, we administered a vaccine mixed with FK506 as an adjuvant to a mouse model of obstetric APS. First, the pCMV3-β2-GPI DNA vaccine, which encodes the full-length human β2-GPI gene, was constructed. Then, we administered the β2-GPI DNA vaccine in 0.1 ml of saline, mixed with or without 100 μg of FK506, intramuscularly to the mice on days 28, 35 and 42. Blood titers of the anti-β2-GPI antibody, platelet counts, activated partial thromboplastin times (aPTTs), and the percentage of fetal loss were measured. We also stimulated murine splenic T cells ex vivo with β2-GPI and determined the T helper cell proportion and cytokine secretion. The administration of the β2-GPI DNA vaccine mixed with FK506 reduced the blood IgG anti-β2-GPI antibody titers and suppressed APS manifestations in mice. The combination also suppressed interferon-γ and interleukin (IL)-17A secretion but increased the Treg cell proportion and IL-10 secretion in murine splenic T cells following ex vivo stimulation with β2-GPI. Our results demonstrated the therapeutic efficacy of a β2-GPI DNA vaccine and FK506 as an adjuvant in a murine model of obstetric APS. Possible mechanisms include the inhibition of Th1 and Th17 responses and the up-regulation of Treg cells.

  20. The promising effect of linagliptin and/or indole-3-carbinol on experimentally-induced polycystic ovarian syndrome.

    Science.gov (United States)

    Kabel, Ahmed M; Al-Shehri, Aisha H; Al-Talhi, Rehab A; Abd Elmaaboud, Maaly A

    2017-08-01

    Polycystic ovarian syndrome (PCOS) is one of the most common medical conditions that lead to female infertility worldwide. The aim of this study was to assess the effect of linagliptin and/or indole-3-carbinol (I3C) on PCOS in female rats. Fifty female Wistar rats were randomly allocated into five equal groups: Control group; Letrozole-induced PCOS group; Letrozole + Linagliptin group; Letrozole + I3C group and Letrozole + Linagliptin + I3C group. Body weight, body mass index, Lee index and ovarian indices were determined. Plasma levels of luteinizing hormone (LH), free testosterone, estradiol, progesterone, prolactin, fasting blood glucose (FBG) and fasting plasma insulin were measured. Quantitative Insulin Sensitivity Check Index (QUICKI) was calculated. Tissue antioxidant status, transforming growth factor beta 1 (TGF-β1), tumor necrosis factor alpha (TNF-α), interleukin 10 (IL-10) and Nrf2/HO-1 content were assessed. Histopathological and immunohistochemical examination of the ovaries were done. Linagliptin and/or I3C induced significant decrease in tissue TGF-β1, TNF-α, IL-10, plasma free testosterone, luteinizing hormone, progesterone, estradiol, FBG and insulin levels associated with significant improvement of insulin resistance whereas tissue Nrf2/HO-1 content and antioxidant enzymes were significantly increased compared to PCOS group. In addition, final body weight, final body mass and Lee indices were significantly decreased compared to PCOS group. Also, there was significant improvement of the ovarian morphology compared to PCOS group. This improvement was significant with linagliptin/I3C combination compared to the use of each of these drugs alone. In conclusion, linagliptin/I3C combination might represent a beneficial therapeutic modality for amelioration of PCOS. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Extended hepatectomy using the bipolar tissue sealer: an experimental model of small-for-size syndrome in pigs.

    Science.gov (United States)

    Athanasiou, Antonios; Kontos, Michael; Pikoulis, Emmanouil; Griniatsos, John; Papalois, Apostolos; Spartalis, Eleftherios; Moris, Demetrios; Felekouras, Evangelos; Liakakos, Theodoros

    2016-01-01

    After liver transplantation with a small-for-size liver graft or after extensive hepatectomy for liver malignancies or other non malignant conditions with an insufficient liver volume, the survival of patients depends on liver regeneration. This study was carried out in order to create a new porcine model for the study of small-for-size syndrome (SFSS) after extensive hepatectomy. In the present study we used 23 domestic Landrace pigs weighing 28.3±3 kg and aged 19-21 weeks. We describe our detailed surgical procedure for 75% partial hepatectomy a in porcine model, using the saline-coupled bipolar sealing device (Aquamantys®) for hepatectomy. The Aquamantis 2.3 bipolar sealer was connected to the Aquamantis generator and was adjusted to produce 150 watts at a medium flow rate of 20 ml/min. The device temperature was programmed to remain at approximately 100° C and, as a consequence, it produced a tissue ablation without charring. The mean operating time was 153.8 min and the mean blood loss 81.9 ml. The estimated residual liver weight (ERL) was 177 g, whereas the mean proportion of ERL was 24.5%. There was no perioperative mortality. A large animal model, such as pig, is extremely useful in order to reproduce and understand the SFSS. Our simple technique for successful resection of 75% of the liver in pigs, using the Aquamantys system, achieves effective and safe liver parenchymal transection with significant decrease of intraoperative blood loss and can provide useful information for researchers.

  2. Transcriptome analysis of Kuruma shrimp (Marsupenaeus japonicus) hepatopancreas in response to white spot syndrome virus (WSSV) under experimental infection.

    Science.gov (United States)

    Zhong, Shengping; Mao, Yong; Wang, Jun; Liu, Min; Zhang, Man; Su, Yongquan

    2017-11-01

    Kuruma shrimp (Marsupenaeus japonicus) is one of the most valuable crustacean species in capture fisheries and mariculture in the Indo-West Pacific. White spot syndrome virus (WSSV) is a highly virulent pathogen which has seriously threatened Kuruma shrimp aquaculture sector. However, little information is available in relation to underlying mechanisms of host-virus interaction in Kuruma shrimp. In this study, we performed a transcriptome analysis from the hepatopancreas of Kuruma shrimp challenged by WSSV, using Illumina-based RNA-Seq. A total of 39,084,942 pair end (PE) reads, including 19,566,190 reads from WSSV-infected group and 19,518,752 reads from non-infected (control) group, were obtained and assembled into 33,215 unigenes with an average length of 503.7 bp and N50 of 601 bp. Approximately 17,000 unigenes were predicted and classified based on homology search, gene ontology, clusters of orthologous groups of proteins, and biological pathway mapping. Differentially expressed genes (DEGs), including 2150 up-regulated and 1931 down-regulated, were found. Among those, 805 DEGs were identified and categorized into 14 groups based on their possible functions. Many genes associated with JAK-STAT signaling pathways, Integrin-mediated signal transduction, Ras signaling pathways, apoptosis and phagocytosis were positively modified after WSSV challenge. The proteolytic cascades including Complement-like activation and Hemolymph coagulations likely participated in antiviral immune response. The transcriptome data from hepatopancreas of Kuruma shrimp under WSSV challenge provided comprehensive information for identifying novel immune related genes in this valuable crustacean species despite the absence of the genome database of crustaceans. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  4. Complex regional pain syndrome (CRPS) or continuous unilateral distal experimental pain stimulation in healthy subjects does not bias visual attention towards one hemifield.

    Science.gov (United States)

    Filippopulos, Filipp M; Grafenstein, Jessica; Straube, Andreas; Eggert, Thomas

    2015-11-01

    In natural life pain automatically draws attention towards the painful body part suggesting that it interacts with different attentional mechanisms such as visual attention. Complex regional pain syndrome (CRPS) patients who typically report on chronic distally located pain of one extremity may suffer from so-called neglect-like symptoms, which have also been linked to attentional mechanisms. The purpose of the study was to further evaluate how continuous pain conditions influence visual attention. Saccade latencies were recorded in two experiments using a common visual attention paradigm whereby orientating saccades to cued or uncued lateral visual targets had to be performed. In the first experiment saccade latencies of healthy subjects were measured under two conditions: one in which continuous experimental pain stimulation was applied to the index finger to imitate a continuous pain situation, and one without pain stimulation. In the second experiment saccade latencies of patients suffering from CRPS were compared to controls. The results showed that neither the continuous experimental pain stimulation during the experiment nor the chronic pain in CRPS led to an unilateral increase of saccade latencies or to a unilateral increase of the cue effect on latency. The results show that unilateral, continuously applied pain stimuli or chronic pain have no or only very limited influence on visual attention. Differently from patients with visual neglect, patients with CRPS did not show strong side asymmetries of saccade latencies or of cue effects on saccade latencies. Thus, neglect-like clinical symptoms of CRPS patients do not involve the allocation of visual attention.

  5. A model of cardiac ryanodine receptor gating predicts experimental Ca2+-dynamics and Ca2+-triggered arrhythmia in the long QT syndrome

    Science.gov (United States)

    Wilson, Dan; Ermentrout, Bard; Němec, Jan; Salama, Guy

    2017-09-01

    Abnormal Ca2+ handling is well-established as the trigger of cardiac arrhythmia in catecholaminergic polymorphic ventricular tachycardia and digoxin toxicity, but its role remains controversial in Torsade de Pointes (TdP), the arrhythmia associated with the long QT syndrome (LQTS). Recent experimental results show that early afterdepolarizations (EADs) that initiate TdP are caused by spontaneous (non-voltage-triggered) Ca2+ release from Ca2+-overloaded sarcoplasmic reticulum (SR) rather than the activation of the L-type Ca2+-channel window current. In bradycardia and long QT type 2 (LQT2), a second, non-voltage triggered cytosolic Ca2+ elevation increases gradually in amplitude, occurs before overt voltage instability, and then precedes the rise of EADs. Here, we used a modified Shannon-Puglisi-Bers model of rabbit ventricular myocytes to reproduce experimental Ca2+ dynamics in bradycardia and LQT2. Abnormal systolic Ca2+-oscillations and EADs caused by SR Ca2+-release are reproduced in a modified 0-dimensional model, where 3 gates in series control the ryanodine receptor (RyR2) conductance. Two gates control RyR2 activation and inactivation and sense cytosolic Ca2+ while a third gate senses luminal junctional SR Ca2+. The model predicts EADs in bradycardia and low extracellular [K+] and cessation of SR Ca2+-release terminate salvos of EADs. Ca2+-waves, systolic cell-synchronous Ca2+-release, and multifocal diastolic Ca2+ release seen in subcellular Ca2+-mapping experiments are observed in the 2-dimensional version of the model. These results support the role of SR Ca2+-overload, abnormal SR Ca2+-release, and the subsequent activation of the electrogenic Na+/Ca2+-exchanger as the mechanism of TdP. The model offers new insights into the genesis of cardiac arrhythmia and new therapeutic strategies.

  6. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  7. Cellular and Ionic Mechanisms Underlying Effects of Cilostazol, Milrinone and Isoproterenol to Suppress Arrhythmogenesis in an Experimental Model of Early Repolarization Syndrome

    Science.gov (United States)

    Patocskai, Bence; Barajas-Martinez, Hector; Hu, Dan; Gurabi, Zsolt; Koncz, István; Antzelevitch, Charles

    2016-01-01

    Background Early Repolarization Syndrome (ERS) is associated with polymorphic ventricular tachycardia (PVT) and fibrillation (VF), leading to sudden cardiac death. Objective The present study tests the hypothesis that the Ito-blocking effect of phosphodiesterase-3 (PDE-3) inhibitors plays a role in reversing repolarization heterogeneities responsible for arrhythmogenesis in experimental models of ERS. Methods Transmembrane action potentials (AP) were simultaneously recorded from epicardial and endocardial regions of coronary-perfused canine left-ventricular (LV) wedge preparations, together with a transmural pseudo-ECG. The Ito-agonist NS5806 (7–15 μM) and ICa-blocker verapamil (2–3 uM) were used to induce an ER pattern and PVT. Results Following stable induction of arrhythmogenesis, the PDE-3 inhibitors cilostazol and milrinone or isoproterenol were added to the coronary perfusate. All were effective in restoring the AP dome in the LV epicardium, thus abolishing the repolarization defects responsible for phase-2-reentry (P2R) and PVT. Arrhythmic activity was suppressed in 7/8 preparations by cilostazol (10 μM), 6/7 by milrinone (2.5 μM) and 7/8 by isoproterenol (0.1–1μM). Using voltage clamp techniques applied to LV epicardial myocytes, both cilostazol (10 μM) and milrinone (2.5 μM) were found to reduce Ito by 44.4% and 40.4%, respectively, in addition to their known effects to augment ICa. Conclusions Our findings suggest that PDE-3 inhibitors exert an ameliorative effect in the setting of ERS by producing an inward shift in the balance of current in the early phases of the epicardial AP via inhibition of Ito as well as augmentation of ICa, thus reversing the repolarization defects underlying development of P2R and VT/VF. PMID:26820510

  8. Cellular and ionic mechanisms underlying the effects of cilostazol, milrinone, and isoproterenol to suppress arrhythmogenesis in an experimental model of early repolarization syndrome.

    Science.gov (United States)

    Patocskai, Bence; Barajas-Martinez, Hector; Hu, Dan; Gurabi, Zsolt; Koncz, István; Antzelevitch, Charles

    2016-06-01

    Early repolarization syndrome (ERS) is associated with polymorphic ventricular tachycardia (PVT) and ventricular fibrillation, leading to sudden cardiac death. The present study tests the hypothesis that the transient outward potassium current (Ito)-blocking effect of phosphodiesterase-3 (PDE-3) inhibitors plays a role in reversing repolarization heterogeneities responsible for arrhythmogenesis in experimental models of ERS. Transmembrane action potentials (APs) were simultaneously recorded from epicardial and endocardial regions of coronary-perfused canine left ventricular (LV) wedge preparations, together with a transmural pseudo-electrocardiogram. The Ito agonist NS5806 (7-15 μM) and L-type calcium current (ICa) blocker verapamil (2-3 μM) were used to induce an early repolarization pattern and PVT. After stable induction of arrhythmogenesis, the PDE-3 inhibitors cilostazol and milrinone or isoproterenol were added to the coronary perfusate. All were effective in restoring the AP dome in the LV epicardium, thus abolishing the repolarization defects responsible for phase 2 reentry and PVT. Arrhythmic activity was suppressed in 7 of 8 preparations by cilostazol (10 μM), 6 of 7 by milrinone (2.5 μM), and 7 of 8 by isoproterenol (0.1-1 μM). Using voltage clamp techniques applied to LV epicardial myocytes, both cilostazol (10 μM) and milrinone (2.5 μM) were found to reduce Ito by 44.4% and 40.4%, respectively, in addition to their known effects to augment ICa. Our findings suggest that PDE-3 inhibitors exert an ameliorative effect in the setting of ERS by producing an inward shift in the balance of current during the early phases of the epicardial AP via inhibition of Ito as well as augmentation of ICa, thus reversing the repolarization defects underlying the development of phase 2 reentry and ventricular tachycardia/ventricular fibrillation. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  9. Low Dose Mesalazine Plus Bismuth Regimen and Symptoms of Irritable Bowel Syndrome in Patients with Bloating: A Quasi-Experimental Study

    Directory of Open Access Journals (Sweden)

    Alavinejad

    2016-08-01

    Full Text Available Background The current study aimed to evaluate the efficacy of mesalazine plus bismuth on patients with irritable bowel syndrome (IBS and chief complaint of bloating. Methods The current quasi-experimental study, included patients with IBS and chief complaint of bloating and incomplete defecation. They were treated with masalazine and bismuth subcitrate and followed regularly based on monthly visits. The rate of symptoms relief, patients' satisfaction and any side effects were recorded during the surveillance. Results Overall, 42 patients (33 females and 9 males were included. The mean age of the patients was 35.9 years (ranged 22 - 67 years; 32%, 44% and 24% had high, medium and low socioeconomic levels, respectively; 96% of the patients were nonsmokers and just two patients had a history of alcohol consumption. Two patients had glucose intolerance, four had hypothyroidism and four had past history of valvular heart disease. In 20% of the patients, the family history for intestinal bowl disease (IBD was positive. Ten patients had a history of bloody diarrhea and no one had a history of any significant liver diseases. The most common symptoms of patients included incomplete defecation and tenesmus (41 patients, 97.6%, bloating (39 patients, 92.8%, abdominal fullness (35 patients, 83.3% and mucus discharge (30 patients, 71.4%. After an average six months of treatment (3 - 11 months, 69.1% of patients reported improvement of symptoms more than 50% (38.1%, ranged 75% - 100%, and 31% (ranged 50% - 75% indicated overall symptoms relief. The most significant improvement was reported for bloating (85%. There were no major side effects except minor degrees of diarrhea among 26% of the subjects. Conclusions The results of the study were indicative of improvement and symptom relief in the majority of patients and it seems that treatment prolongation up to six months could be a key factor to achieve better clinical responses. It is recommended that further

  10. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  11. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  12. Design, development and experimental trialof a tailored cytotoxic T-cell vaccine againstPorcine Reproductive and RespiratorySyndrome Virus-2

    DEFF Research Database (Denmark)

    Welner, Simon

    Porcine reproductive and respiratory syndrome virus (PRRSV) is one of the most important threats against the global swine production industry. The virus infects alveolar macrophages that leads to respiratory distress, fever, pneumonia and gives way to secondary respiratory pathogens. Infection...

  13. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  14. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  15. Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.

    Directory of Open Access Journals (Sweden)

    Rajshekhar Chatterjee

    Full Text Available We applied customized targeted next-generation exome sequencing (NGS to determine if mutations in genes associated with renal malformations, Alport syndrome (AS or nephrotic syndrome are a potential cause of renal abnormalities in patients with equivocal or atypical presentation. We first sequenced 4,041 exons representing 292 kidney disease genes in a Caucasian woman with a history of congenital vesicoureteral reflux (VUR, recurrent urinary tract infections and hydronephrosis who presented with nephrotic range proteinuria at the age of 45. Her biopsy was remarkable for focal segmental glomerulosclerosis (FSGS, a potential complication of longstanding VUR. She had no family history of renal disease. Her proteinuria improved initially, however, several years later she presented with worsening proteinuria and microhematuria. NGS analysis revealed two deleterious COL4A3 mutations, one novel and the other previously reported in AS, and a novel deleterious SALL2 mutation, a gene linked to renal malformations. Pedigree analysis confirmed that COL4A3 mutations were nonallelic and compound heterozygous. The genomic results in conjunction with subsequent abnormal electron microscopy, Collagen IV minor chain immunohistochemistry and progressive sensorineural hearing loss confirmed AS. We then modified our NGS approach to enable more efficient discovery of variants associated with AS or a subset of FSGS by multiplexing targeted exome sequencing of 19 genes associated with AS or FSGS in 14 patients. Using this approach, we found novel or known COL4A3 or COL4A5 mutations in a subset of patients with clinically diagnosed or suspected AS, APOL1 variants associated with FSGS in African Americans and novel mutations in genes associated with nephrotic syndrome. These studies demonstrate the successful application of targeted capture-based exome sequencing to simultaneously evaluate genetic variations in many genes in patients with complex renal phenotypes and

  16. Hypocomplementemic Urticarial Vasculitis Syndrome With Crescentic Glomerulonephritis.

    Science.gov (United States)

    Salim, Sohail Abdul; Yousuf, Tauqeer; Patel, Asha; Fülöp, Tibor; Agarwal, Mohit

    2018-02-01

    Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare autoimmune disease characterized by multiple organ system involvement, including renal disease, with low complement levels. We report the case of a 31-year-old woman who presented with nonspecific symptoms including fatigue, diarrhea, macular rash and abdominal pain with acute renal failure leading to end-stage kidney disease. Laboratory results showed hematuria, nephrotic range proteinuria, worsening creatinine and low C1q levels. Left kidney biopsy showed proliferative glomerulonephritis with crescent formation. She was treated with 6 months of intravenous cyclophosphamide, followed by 2 doses of intravenous rituximab (1g each), thereafter maintained on mycophenolate mofetil and glucocorticoid-based therapy. She experienced a full recovery of renal function after 12 months of dialysis dependence. Hypocomplementemic urticarial vasculitis syndrome with crescentic glomerulonephritis is a rare disease with only 5 other reported cases in literature. In our case, we document a delayed but excellent renal recovery during a 2-year follow-up. Copyright © 2018 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  17. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  18. Do Amnesic Patients with Korsakoff's Syndrome Use Feedback when Making Decisions under Risky Conditions? An Experimental Investigation with the Game of Dice Task with and without Feedback

    Science.gov (United States)

    Brand, Matthias; Pawlikowski, Mirko; Labudda, Kirsten; Laier, Christian; von Rothkirch, Nadine; Markowitsch, Hans J.

    2009-01-01

    We investigated the role of feedback processing in decision making under risk conditions in 50 patients with amnesia in the course of alcoholic Korsakoff's syndrome (KS). Half of the patients were administered the Game of Dice Task (GDT) and the remaining 25 patients were examined with a modified version of the GDT in which no feedback was…

  19. A Quasi-Experimental, Before-After Trial Examining the Impact of an Emergency Department Mechanical Ventilator Protocol on Clinical Outcomes and Lung-Protective Ventilation in Acute Respiratory Distress Syndrome.

    Science.gov (United States)

    Fuller, Brian M; Ferguson, Ian T; Mohr, Nicholas M; Drewry, Anne M; Palmer, Christopher; Wessman, Brian T; Ablordeppey, Enyo; Keeperman, Jacob; Stephens, Robert J; Briscoe, Cristopher C; Kolomiets, Angelina A; Hotchkiss, Richard S; Kollef, Marin H

    2017-04-01

    To evaluate the impact of an emergency department mechanical ventilation protocol on clinical outcomes and adherence to lung-protective ventilation in patients with acute respiratory distress syndrome. Quasi-experimental, before-after trial. Emergency department and ICUs of an academic center. Mechanically ventilated emergency department patients experiencing acute respiratory distress syndrome while in the emergency department or after admission to the ICU. An emergency department ventilator protocol which targeted variables in need of quality improvement, as identified by prior work: 1) lung-protective tidal volume, 2) appropriate setting of positive end-expiratory pressure, 3) oxygen weaning, and 4) head-of-bed elevation. A total of 229 patients (186 preintervention group, 43 intervention group) were studied. In the emergency department, the intervention was associated with significant changes (p protective ventilation from 11.1% to 61.5%, p value of less than 0.01. The intervention was associated with a reduction in mortality from 54.8% to 39.5% (odds ratio, 0.38; 95% CI, 0.17-0.83; p = 0.02) and a 3.9 day increase in ventilator-free days, p value equals to 0.01. This before-after study of mechanically ventilated patients with acute respiratory distress syndrome demonstrates that implementing a mechanical ventilator protocol in the emergency department is feasible and associated with improved clinical outcomes.

  20. Compartment elasticity measured by pressure-related ultrasound to determine patients "at risk" for compartment syndrome: an experimental in vitro study.

    Science.gov (United States)

    Sellei, Richard Martin; Hingmann, Simon Johannes; Kobbe, Philipp; Weber, Christian; Grice, John Edward; Zimmerman, Frauke; Jeromin, Sabine; Hildebrand, Frank; Pape, Hans-Christoph

    2015-01-01

    Decision-making in treatment of an acute compartment syndrome is based on clinical assessment, supported by invasive monitoring. Thus, evolving compartment syndrome may require repeated pressure measurements. In suspected cases of potential compartment syndromes clinical assessment alone seems to be unreliable. The objective of this study was to investigate the feasibility of a non-invasive application estimating whole compartmental elasticity by ultrasound, which may improve accuracy of diagnostics. In an in vitro model, using an artificial container simulating dimensions of the human anterior tibial compartment, intra-compartmental pressures (p) were raised subsequently up to 80 mmHg by infusion of saline solution. The compartmental depth (mm) in the cross-section view was measured before and after manual probe compression (100 mmHg) upon the surface resulting in a linear compartmental displacement (∆d). This was repeated at rising compartmental pressures. The resulting displacements were related to the corresponding intra-compartmental pressures simulated in our model. A hypothesized relationship between pressures related compartmental displacement and the elasticity at elevated compartment pressures was investigated. With rising compartmental pressures, a non-linear, reciprocal proportional relation between the displacement (mm) and the intra-compartmental pressure (mmHg) occurred. The Pearson coefficient showed a high correlation (r(2) = -0.960). The intra-observer reliability value kappa resulted in a statistically high reliability (κ = 0.840). The inter-observer value indicated a fair reliability (κ = 0.640). Our model reveals that a strong correlation between compartmental strain displacements assessed by ultrasound and the intra-compartmental pressure changes occurs. Further studies are required to prove whether this assessment is transferable to human muscle tissue. Determining the complete compartmental elasticity by ultrasound

  1. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  2. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  3. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  4. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  5. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  6. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  7. Sjögren's syndrome associated with protein losing gastroenteropathy manifested by intestinal lymphangiectasia successfully treated with prednisolone and hydroxychloroquine.

    Science.gov (United States)

    Liao, C-Y; Chien, S-T; Wang, C-C; Chen, I-H; Chiu, H-W; Liu, M-Y; Lin, C-H; Ben, R-J; Tsai, M-K

    2015-12-01

    Protein-losing gastroenteropathy (PLGE), a rare manifestation of primary Sjögren's syndrome (SS), is characterized by profound edema and severe hypoalbuminemia secondary to excessive serum protein loss from the gastrointestinal tract and is clinically indistinguishable from nephrotic syndrome. We report a case of a 30-year-old Taiwanese woman with PLGE-associated SS. In addition to a positive Schirmer's test, she had eye-dryness, thirst, and high levels of anti-SSA antibodies, fulfilling SS criteria. PLGE diagnosis was highly appropriate given the clinical profile of hypoalbuminemia, hypercholesterolemia, pleural effusion, and ascites, with absent cardiac, hepatic, or renal disease. We were unable to perform technetium-99 m-labeled human serum albumin scintigraphy ((99m)Tc-HAS). However, the patient's edema and albumin level improved dramatically in response to a 3-month regime of oral prednisolone followed by oral hydroxychloroquine. © The Author(s) 2015.

  8. Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome.

    Science.gov (United States)

    Piccoli, Giorgina Barbara; Bonino, Laura Davico; Campisi, Paola; Vigotti, Federica Neve; Ferraresi, Martina; Fassio, Federica; Brocheriou, Isabelle; Porpiglia, Francesco; Restagno, Gabriella

    2012-02-21

    MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement. Interest in the latter is rising due to the identification of cases with predominant kidney involvement and to the hypothesis of a link between mitochondrial DNA and kidney neoplasia. We report the case of a 41-year-old male with full blown MELAS syndrome, with lactic acidosis and neurological impairment, affected by the "classic" 3243A > G mutation of mitochondrial DNA, with kidney cancer. After unilateral nephrectomy, he rapidly developed severe kidney functional impairment, with nephrotic proteinuria. Analysis of the kidney tissue at a distance from the two tumor lesions, sampled at the time of nephrectomy was performed in the context of normal blood pressure, recent onset of diabetes and before the appearance of proteinuria. The morphological examination revealed a widespread interstitial fibrosis with dense inflammatory infiltrate and tubular atrophy, mostly with thyroidization pattern. Vascular lesions were prominent: large vessels displayed marked intimal fibrosis and arterioles had hyaline deposits typical of hyaline arteriolosclerosis. These severe vascular lesions explained the different glomerular alterations including ischemic and obsolescent glomeruli, as is commonly observed in the so-called "benign" arteriolonephrosclerosis. Some rare glomeruli showed focal segmental glomerulosclerosis; as the patient subsequently developed nephrotic syndrome, these lesions suggest that silent ischemic changes may result in the development of focal segmental glomerulosclerosis secondary to nephron loss. Nephron loss may trigger glomerular sclerosis, at least in some cases of MELAS-related nephropathy. Thus the incidence of kidney disease in the "survivors" of MELAS syndrome may increase as the support therapy of these patients improves.

  9. Experimental inoculation of late term pregnant sows with a field isolate of porcine reproductive and respiratory syndrome vaccine-derived virus

    DEFF Research Database (Denmark)

    Nielsen, Jens; Bøtner, Anette; Bille-Hansen, Vivi

    2002-01-01

    The use of a live attenuated porcine reproductive and respiratory syndrome virus (PRRSV) vaccine in piglets has been associated with reproductive disorders in non-vaccinated sows. Vaccine-derived virus (VDV) has been isolated from foctuses, stillborn pigs, and dead: piglets, indicating that the l......The use of a live attenuated porcine reproductive and respiratory syndrome virus (PRRSV) vaccine in piglets has been associated with reproductive disorders in non-vaccinated sows. Vaccine-derived virus (VDV) has been isolated from foctuses, stillborn pigs, and dead: piglets, indicating...... than 99.6% identity to the attenuated vaccine virus, originated from the lungs of a stillborn pig from a swine herd with a sudden high level of stillborn pigs and increased piglet mortality in the nursing period. Intranasal inoculation of sows with the virus isolate resulted in congenital infection......, foetal death, and preweaning pig mortality. As such, the present study showed that vaccine-derived PRRSV can cause disease in swine consistent with PRRS....

  10. Relationship between Angiotensin-Converting Enzyme Insertion/Deletion Gene Polymorphism and Susceptibility of Minimal Change Nephrotic Syndrome: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Tian-Biao Zhou

    2011-01-01

    Africans: D: =.81, DD: =.49. Furthermore, the II genotype seemed not to play a protective role against MCNS risk for Asians, Caucasians and Africans (=.12, =.09, =.76, resp.. Interestingly, there was also significant association between ACE I/D gene polymorphism and MCNS susceptibility in overall populations (D: =.007, DD: =.04, II: =.03. Conclusion. D allele or DD genotype might be a significant genetic molecular marker for MCNS susceptibility in Asians and overall populations, but not for Caucasians and Africans. More larger and rigorous genetic epidemiological investigations are required to further explore this association.

  11. Eficacia del tratamiento dietético en el síndrome nefrótico Effectiveness of dietetic treatment in nephrotic syndrome

    OpenAIRE

    A. Calleja Fernández; J. J. López Gómez; A. Vidal Casariego; I. Cano Rodríguez; M.ª D. Ballesteros Pomar

    2009-01-01

    Presentamos el caso de un paciente diagnosticado de amiloidosis primaria y síndrome nefrótico que acude a la consulta de dietoterapia. En la consulta inicial se realizó una historia nutricional que incluyó una valoración antropométrica completa, composición corporal, bioquímica completa y análisis de la ingesta. El paciente presentó un exceso de agua corporal, proteinuria, niveles disminuidos de proteínas totales, albúmina, prealbúmina y colesterol HDL y concentraciones elevadas de colesterol...

  12. EVALUATION OF DISORDERS OF HEMOSTASIS, FUNCTIONAL STATE OF THE KIDNEYS AND RENAL HEMODYNAMICS IN CHILDREN WITH NEPHROTIC SYNDROME OF ACUTE GLOMERULONEPHRITIS

    Directory of Open Access Journals (Sweden)

    Elena Genadievna Makhova

    2016-04-01

    Full Text Available Was made analysis of status single links in haemostatic system at children with sharp glomerulonephritis, changes in haemostatic links and changes of intrarenal subcapsular bloodstream during anticoagulant therapy. Among 44 children was made a standard medical checkup and survey of hemostasis system and duplex scaning of kidneys vessels. Was evaluated the dynamics changes of hemostasis and at intrarenal subcapsular bloodstream during anticoagulant therapy. It found that the debut is accompanied by signs of hypercoagulability at the mark of homeostasis and irregularities in duplex scanning of kidneys vessels with deterioration signs of subcapsular bloodstream. At sharp glomerulonephritis the risk of blood clots will grow up, and that can worsen disease and be the reason of process chronicis.

  13. [Prune-Belly Syndrome: a case report].

    Science.gov (United States)

    Tattoli, Fabio; De Prisco, Ornella; Gherzi, Maurizio; Falconi, Daniela; Marazzi, Federico; Marengo, Marita; Serra, Ilaria; Tamagnone, Michela; Formica, Marco

    2014-01-01

    Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum. At the beginning of the observation, renal function was deteriorated, with a creatinine 3.3 mg/dl, GFR calculated at MDRD 23 ml/min, proteinuria in nephrotic range (4 g/day), high blood pressure, anemia and hyperparathyroidism. In the following examinations renal function framework worsened, despite the adoption of a low-protein diet. Due to the functional trend, the patient was prescribed hemodialysis as substitute treatment. In January 2013 a first attempt of artero-venous fistula (AVF) did not succeed, while a new AVF in March 2013 resulted effective. In July hemodialysis was started. In the future, we expect to insert the patient in the Kidney Transplant List (since surgical feasibility has already been positively evaluated). Our case is quite peculiar due to the late beginning of substitute treatment. Further, SPB represents a challenge that, in the absence of a prompt and effective treatment, inevitably it leads to terminal uremia; nevertheless, given a proper treatment, a transplant with good chances of success can be envisaged.

  14. Proliferative glomerulonephritis and primary antiphospholipid syndrome

    International Nuclear Information System (INIS)

    Abdalla, H. Abdalla; Kfoury, Hala K.; Al-Khader, Abdulla A.; Al-Suleiman, M.

    2006-01-01

    Little is known regarding the association of primary antiphospholipid syndrome (APLS) and proliferative glomerulonephiritis (GN). We describe a biopsy-documented case with primary APLS and proliferative (GN) with no evidence of thrombotic microangiopathy (TMA), and in the absence of other manifestations of systematic lupus erythematosus (SLE). She presented initially with left popliteal deep venous thrombosis and nephrotic syndrome. Her first pregnancy at the age of 26 years resulted in the intra-uterine fetal death at term. Two subsequent pregnancies ended up with miscarriages at 3 and 4 months of gestation. Urinalysis revealed glomerular red blood cells of 1.0000.000/ml and granular cast; proteinuria of 13.4grams/24 hours, which was non-selective; hemoglobin 12 gm/dl, normal white blood cell and platelets; serum albumin 2.6gm/dl; anti-nuclear antibody (ANA) and anti DNA were negative and complement levels normal. Lupus anticoagulant was positive leading to a diagnosis of primary APLS. The biopsy findings were consistent with membranoproliferative GN. She continued to have steroid-resistant proteinuria, but stable renal function after a 12-year follow up period. She had 2 pregnancies during this period and was delivered at term using caesarian section. She received heparin during the pregnancies. Later she developed hypertension easily controlled by atenolol. This case provides evidence that primary APLS can be associated with proliferative GN due to immune deposits and not only TMA as previously reported, and in the complete absence of SLE. Performing more renal biopsies in this group of patients may disclose a greater prevalence of proleferative GN and may help in devising a rationale for treatment. (author)

  15. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  16. Acquired Von Willebrand’s Syndrome in Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Sara Taveras Alam

    2014-01-01

    Full Text Available Acquired von Willebrand syndrome (AVWS is an uncommon, underdiagnosed, and heterogeneous disease which is increasingly recognized as a cause of bleeding diatheses. Systemic lupus erythematosus (SLE is an infrequent cause of AVWS. Herein, we report a case of AVWS diagnosed during the initial presentation of SLE in a previously healthy young man with no family history of bleeding diathesis who presented with worsening epistaxis, gastrointestinal bleeding, and anasarca. He was found to have severe anemia and prolonged activated partial thromboplastin time (aPTT with severely decreased levels of von Willebrand factor (VWF measurements in addition to markedly decreased factor VIII levels. Further evaluation revealed nephrotic syndrome and interstitial lung disease due to SLE. He initially received combination therapy with intravenous immunoglobulin (IVIG and von Willebrand factor/factor VIII concentrates without significant improvement. Treatment with steroids, cyclophosphamide, and rituximab was followed by clinical improvement evidenced by cessation of bleeding. The short follow-up did not allow us to definitely prove the therapeutic effect of immunosuppressive treatment on AVWS in SLE patients. This case adds to the literature supporting the relationship between AVWS and SLE and highlights the importance of combination therapy in the treatment of severe AVWS as well as the role of IVIG, cyclophosphamide, and rituximab in AVWS associated with SLE.

  17. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  18. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  19. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  20. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  1. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  2. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  3. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  4. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  5. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  6. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  7. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  8. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  9. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  10. Reduced estradiol-induced vasodilation and poly-(ADP-ribose polymerase (PARP activity in the aortas of rats with experimental polycystic ovary syndrome (PCOS.

    Directory of Open Access Journals (Sweden)

    Gabriella Masszi

    Full Text Available Polycystic ovary syndrome (PCOS is a complex endocrine disorder characterized by hyperandrogenism and insulin resistance, both of which have been connected to atherosclerosis. Indeed, an increased risk of clinical manifestations of arterial vascular diseases has been described in PCOS. On the other hand endothelial dysfunction can be detected early on, before atherosclerosis develops. Thus we assumed that vascular dysfunction is also related directly to the hormonal imbalance rather than to its metabolic consequences. To detect early functional changes, we applied a novel rodent model of PCOS: rats were either sham operated or hyperandrogenism was achieved by implanting subcutaneous pellets of dihydrotestosterone (DHT. After ten weeks, myograph measurements were performed on isolated aortic rings. Previously we described an increased contractility to norepinephrine (NE. Here we found a reduced immediate relaxation to estradiol treatment in pre-contracted aortic rings from hyperandrogenic rats. Although the administration of vitamin D3 along with DHT reduced responsiveness to NE, it did not restore relaxation to estradiol. Poly-(ADP-ribose polymerase (PARP activity was assessed by poly-ADP-ribose immunostaining. Increased PAR staining in ovaries and circulating leukocytes from DHT rats showed enhanced DNA damage, which was reduced by concomitant vitamin D3 treatment. Surprisingly, PAR staining was reduced in both the endothelium and vascular smooth muscle cells of the aorta rings from hyperandrogenic rats. Thus in the early phase of PCOS, vascular tone is already shifted towards vasoconstriction, characterized by reduced vasorelaxation and vascular dysfunction is concomitant with altered PARP activity. Based on our findings, PARP inhibitors might have a future perspective in restoring metabolic disorders in PCOS.

  11. Reduced estradiol-induced vasodilation and poly-(ADP-ribose) polymerase (PARP) activity in the aortas of rats with experimental polycystic ovary syndrome (PCOS).

    Science.gov (United States)

    Masszi, Gabriella; Horvath, Eszter Maria; Tarszabo, Robert; Benko, Rita; Novak, Agnes; Buday, Anna; Tokes, Anna-Maria; Nadasy, Gyorgy L; Hamar, Peter; Benyó, Zoltán; Varbiro, Szabolcs

    2013-01-01

    Polycystic ovary syndrome (PCOS) is a complex endocrine disorder characterized by hyperandrogenism and insulin resistance, both of which have been connected to atherosclerosis. Indeed, an increased risk of clinical manifestations of arterial vascular diseases has been described in PCOS. On the other hand endothelial dysfunction can be detected early on, before atherosclerosis develops. Thus we assumed that vascular dysfunction is also related directly to the hormonal imbalance rather than to its metabolic consequences. To detect early functional changes, we applied a novel rodent model of PCOS: rats were either sham operated or hyperandrogenism was achieved by implanting subcutaneous pellets of dihydrotestosterone (DHT). After ten weeks, myograph measurements were performed on isolated aortic rings. Previously we described an increased contractility to norepinephrine (NE). Here we found a reduced immediate relaxation to estradiol treatment in pre-contracted aortic rings from hyperandrogenic rats. Although the administration of vitamin D3 along with DHT reduced responsiveness to NE, it did not restore relaxation to estradiol. Poly-(ADP-ribose) polymerase (PARP) activity was assessed by poly-ADP-ribose immunostaining. Increased PAR staining in ovaries and circulating leukocytes from DHT rats showed enhanced DNA damage, which was reduced by concomitant vitamin D3 treatment. Surprisingly, PAR staining was reduced in both the endothelium and vascular smooth muscle cells of the aorta rings from hyperandrogenic rats. Thus in the early phase of PCOS, vascular tone is already shifted towards vasoconstriction, characterized by reduced vasorelaxation and vascular dysfunction is concomitant with altered PARP activity. Based on our findings, PARP inhibitors might have a future perspective in restoring metabolic disorders in PCOS.

  12. The effect of resveratrol on oxidative stress in the liver and serum of a rat model of polycystic ovary syndrome: An experimental study

    Directory of Open Access Journals (Sweden)

    Mahnaz Ghowsi

    2018-03-01

    Full Text Available Background: Studies of oxidative status in polycystic ovarian syndrome (PCOS patients are limited with inconsistent results. The effects of resveratrol as a natural antioxidant on oxidative status in PCOS aren’t clear. Objective: This study evaluated effects of resveratrol on oxidative stress in the liver and serum of the PCOS rats. Materials and Methods: Fifteen female Wistar rats (3 wk old were divided into 3 groups (n=5/each e: Control group, PCO-Control group, and PCO-Resveratrol group. For induction of polycystic ovary phenotype, testosterone enanthate 10 mg/kg was injected for 35 days subcutaneously. Then, resveratrol 10 mg/kg was injected intraperitoneally for 28 days to rats of the PCO-Resveratrol group. Ovarian sections were stained with hematoxylin/eosin. The serum glucose and insulin and the levels of malondialdehyde (MDA and total antioxidant capacity (TAC in serum and liver were measured. Results: Control animals showed normal ovarian morphology and PCO-Control animals exhibited cystic follicles. There were no significant differences in liver TAC between groups. The serum MDA (p=0.034, and homeostatic model assessment insulin resistance (HOMA-IR (p=0.014 levels in PCO-Control rats were higher than the controls. The liver MDA in PCO-Control rats was more than that of controls (p=0.001. The HOMA-IR (p=0.008 and serum MDA (p=0.006 levels in PCO-Control rats were more than those of PCO-Resveratrol rats (p=0.008. In PCO-Resveratrol group, serum TAC was higher than that of PCO-Control group (p=0.022 and liver MDA was more than controls (p=0.01. Conclusion: Results indicated that the induction of PCOS in rats increased lipid peroxidation and insulin resistance and resveratrol improved these complications.

  13. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  14. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  15. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  16. Analysis of case series of milky urine: A single center and departmental clinical experience with emphasis on management perspectives: A prospective observational study

    Directory of Open Access Journals (Sweden)

    Sham Sunder

    2014-01-01

    Conclusion : Milky urine is most commonly due to chyluria and occasionally due to nephrotic syndrome. Nephrotic syndrome is managed in its own way while chyluria not amenable to pharmacological intervention is managed with sclerotherapy.

  17. WAJM 28(6).pmd

    African Journals Online (AJOL)

    user

    investigations, she had both medical and surgical intervention. RESULTS: Two ... a diagnosis of nephrotic syndrome. There was ... nephrotic syndrome,; gangrene of digits ; multiple digit. RÉSUMÉ .... drew attention away from the background.

  18. Presentation and pattern of childhood renal diseases in Gusau ...

    African Journals Online (AJOL)

    causes, nephrotic syndrome, congenital urinary tract obstructions ... primary disease, e.g. children with UTIs and background nephrotic syndrome were classified as .... children died, while 4 (6%) children's caregivers signed against medical ...

  19. Untitled

    African Journals Online (AJOL)

    Elamin

    Keywords: Minimal Change Disease; Nephrotic Syndrome;. Systemic Lupus Erythematosus. The authors declared no conflict of interest. Introduction: Rare cases of association between lupus nephritis (LN) and minimal changes nephrotic syndrome. (MCNS) were ... positive. Anticardiolipin, antiphospholipid and anti-B2-.

  20. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  1. Cytokine mRNA profiles in bronchoalveolar cells of piglets experimentally infected in utero with porcine reproductive and respiratory syndrome virus: Association of sustained expression of IFN-gamma and IL-10 after viral clearance

    DEFF Research Database (Denmark)

    Johnsen, C. K.; Bøtner, Anette; Kamstrup, Søren

    2002-01-01

    An experimental model was used to investigate mRNA cytokine profiles in bronchoalvolar cells (BALC) from piglets, infected in utero with porcine reproductive and respiratory syndrome virus (PRRSV). The BALC's were analyzed for the cytokines TNF-alpha, IFN-gamma, IL-8, IL-10, and IL-12(p40) by real......-time TaqMan polymerase chain reaction in 2-, 4-, and 6-week-old piglets, respectively. High levels of IFN-gamma mRNA was detected in all piglets, while IL-10 was upregulated in 2-week-old piglets, was at normal levels in 4-week-old piglets, and elevated again in 6-week-old piglets. IL-12 was weakly...... elevated in all three age groups. Virus was reduced by 50% in 4-week-old piglets and cleared by 6 weeks of age. The sustained expression of IFNgamma and reduction of IL-10 production indicate an important role for these cytokines in immunity to PRRSV....

  2. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  3. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  4. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  5. Influence of disease remission on renal dimensions in childhood ...

    African Journals Online (AJOL)

    2016-04-26

    Apr 26, 2016 ... at determining the dimensions of the kidneys of children with nephrotic syndrome and to com- ... Keywords: Nephrotic syndrome, renal dimensions, ultrasonography, nephromegaly, paediatric. ... Patients with nephrotic syndrome were initially man- aged with per oral (p.o) prednisolone 60mg/m2daily for.

  6. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  7. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  8. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  9. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  10. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  11. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  12. Testicular dysgenesis syndrome

    DEFF Research Database (Denmark)

    Skakkebaek, N E; Rajpert-De Meyts, E; Main, K M

    2001-01-01

    Numerous reports have recently focused on various aspects of adverse trends in male reproductive health, such as the rising incidence of testicular cancer; low and probably declining semen quality; high and possibly increasing frequencies of undescended testis and hypospadias; and an apparently...... summarizes existing evidence supporting a new concept that poor semen quality, testis cancer, undescended testis and hypospadias are symptoms of one underlying entity, the testicular dysgenesis syndrome (TDS), which may be increasingly common due to adverse environmental influences. Experimental...

  13. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  14. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  15. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  16. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  17. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  18. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  19. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  20. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Kidney involvement in MELAS syndrome: Description of 2 cases.

    Science.gov (United States)

    Alcubilla-Prats, Pau; Solé, Manel; Botey, Albert; Grau, Josep Maria; Garrabou, Glòria; Poch, Esteban

    2017-04-21

    MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA Leu gene being the most frequent of them. Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). Recent studies have shown that few patients carrying a A3243G mutation also suffer from renal dysfunction, usually in form of focal segmental glomerulosclerosis (FSGS). In this study we examine kidney involvement in 2 unrelated patients with a A3243G mutation by genetic testing. Both have a maternally-inherited neurosensory deafness and insulin-dependent T2DM. A renal biopsy was performed in both patients. One patient developed nephrotic proteinuria and renal insufficiency, with FSGS findings being observed in the kidney biopsy, whereas the other suffered from mild proteinuria and renal insufficiency, with non-specific glomerular changes. The presence of FSGS or other kidney involvement accompanied by hereditary neurosensory deafness and T2DM could be suggestive of a A3243G tRNA Leu mutation and should prompt a genetic testing and an evaluation of potential extrarenal involvement. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  2. Renal involvement in the antiphospholipid syndrome (APS)-APS nephropathy.

    Science.gov (United States)

    Tektonidou, Maria G

    2009-06-01

    Although the kidney represents a major target organ in antiphospholipid syndrome (APS), renal involvement in APS was poorly recognized until recently. The most well-recognized renal manifestations of APS are the renal artery thrombosis/stenosis, renal infarction, hypertension, renal vein thrombosis, end-stage renal disease, increased allograft vascular thrombosis, some types of glomerular disease, and a small-vessel vaso-occlusive nephropathy, recently defined as APS nephropathy. APS nephropathy was first described in primary APS patients, characterized by acute thrombotic lesions in glomeruli and/or arterioles (thrombotic microangiopathy) and chronic vascular lesions such as fibrous intimal hyperplasia of arterioles and interlobular arteries, organized thrombi with or without recanalization, and fibrous arterial and arteriolar occlusions or focal cortical atrophy. APS nephropathy was also detected in further studies including patients with systemic lupus erythematosus (SLE)-related APS and SLE/non-APS patients with positive antiphospholipid antibodies, independently of lupus nephritis. The same histologic lesions, especially thrombotic mictroangiopathy, were also observed in patients with catastrophic APS. The most frequent clinical and laboratory characteristics of APS nephropathy in all the above groups of patients are hypertension (often severe), proteinuria (ranging from mild to nephrotic range), hematuria, and acute or chronic renal insufficiency.

  3. Relationship of hypovitaminosis d and insulin resistance in patients with coronary heart disease and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    V. F. Orlovsky

    2013-08-01

    Full Text Available BACKGROUND: Insulin resistance (IR - is one of the predictors of cardiovascular disease and progression of atherosclerosis, regardless of major classical risk factors. IR has become a global epidemic. Experimental data indicate that low concentration of vitamin D associated with IR, diabetes mellitus type 2, by reducing the sensitivity of peripheral tissues to insulin and dysfunction of β-pancreatic cells. Randomized studies showed that vitamin D supplements have a preventive role in the development of type 2 diabetes mellitus (DM. The present study aims to examine the association between serum vitamin D concentrations and indicators of carbohydrate metabolism, indexes of insulin resistance and insulin sensitivity in the patients with coronary artery disease. METHODS: This study included 135 patients with CHD stable angina pectoris class II – III. The mean age was 64,7±0,97 years, 40% were women (n = 54. Patients were divided into two groups: I – with isolated CHD (70 patients and II - CHD combined with MS (65 patients. MS was diagnosed according to the criteria of the International Diabetes Federation (IDF, 2005. The study did not include patients who received vitamin D2, D3 and multivitamins containing these vitamins for last 6 months, patients with malabsorption fat syndrome, acute and chronic liver disease, chronic renal failure, nephrotic syndrome, urolithiasis, and primary hyperparathyroidism. Also excluded from the study were patients with DM type 1 and type 2 taking glucose-lowering drugs. Serum 25(OHD and insulin were measured by enzyme immunoassay (25-OH Vitamin D Immunodiagnostics Systems Limited (UK; DRG (USA. RESULT: Vitamin D deficiency or insufficiency was present in 91,9 % of the tested patients. Among subnormal values prevailed insufficiency in 51,9 % (70 pers., deficit diagnosed in 40.0% of patients (54 pers.. Established that patients with CHD associated with MS have a significantly more pronounced hypovitaminosis D

  4. Modelos experimentais para avaliação das alterações pulmonares na síndrome hepatopulmonar Experimental models for assessment of pulmonary alterations in hepatopulmonary syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Vercelino

    2008-07-01

    Full Text Available OBJETIVO: O objetivo deste trabalho foi avaliar o melhor modelo experimental para observar alterações pulmonares que caracterizam a síndrome hepatopulmonar (SHP. MÉTODOS: Ratos machos Wistar, com peso médio de 250 g foram usados em quatro modelos experimentais: tetracloreto de carbono inalatório; tetracloreto de carbono intraperitoneal; ligadura parcial de veia porta; e ligadura de ducto biliar (LDB. Em todos os grupos os animais foram divididos em controle e experimental. Foram avaliadas as seguintes variáveis: transaminases; gasometria; lipoperoxidação por substâncias que reagem ao ácido tiobarbitúrico (TBARS e por quimiluminescência; e atividade antioxidante da enzima superóxido dismutase (SOD. Foi feito também o exame anatomopatológico do pulmão. RESULTADOS: Observou-se diferenças significativas entre os grupos LDB controle e experimental: aspartato amino transferase (105,3 ± 43 vs. 500,5 ± 90,3 UI/L; alanino aminotransferase (78,75 ± 37,7 vs. 162,75 ± 35,4 UI/L; fosfatase alcalina (160 ± 20,45 vs. 373,25 ± 45,44 UI/L; pressão parcial de oxigênio (85,25 ± 8,1 vs. 49,9 ± 22,5 mmHg; e saturação de hemoglobina (95 ± 0,7 vs. 73,3 ± 12,07%. A lipoperoxidação e a atividade antioxidante também demonstrou diferenças entre os dois grupos LDB (controle vs. experimental: TBARS (0,87 ± 0,3 vs. 2,01 ± 0,9 nmol/mg proteína; quimiluminescência (16008,41 ± 1171,45 vs. 20250,36 ± 827,82 cps/mg proteína; e SOD (6,66 ± 1,34 vs. 16,06 ± 2,67 UI/mg proteína. No exame anatomopatológico observou-se vasodilatação pulmonar no modelo de LDB. CONCLUSÕES: Os dados sugerem que o modelo de LDB pode ser usado para outros estudos envolvendo alterações hepáticas e suas relações com o estresse oxidativo e a SHP.OBJECTIVE: The aim of this study was to identify the best experimental model in which to observe the pulmonary alterations characterizing hepatopulmonary syndrome (HPS. METHODS: Male Wistar rats, with mean weight

  5. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  6. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  7. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  8. Histopathological changes in exocrine glands of murine transplantation chimeras. II: Sjögren's syndrome-like exocrinopathy in mice without lupus nephritis. A model of primary Sjögren's syndrome

    DEFF Research Database (Denmark)

    Ussing, Anne Phaff; Prause, J.U.; Sørensen, Inger

    1992-01-01

    Autoimmune disease, primary Sjögren's syndrome, transplantation chimeras, experimental model, exocrinopathy, inbred mouse strains......Autoimmune disease, primary Sjögren's syndrome, transplantation chimeras, experimental model, exocrinopathy, inbred mouse strains...

  9. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  10. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  11. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  12. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  13. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  14. Alagille Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  15. Reye Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  16. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  17. Cushing's Syndrome

    Science.gov (United States)

    ... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

  18. Levator Syndrome

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse (See ... out other painful rectal conditions (such as thrombosed hemorrhoids , fissures , or abscesses ). The physical examination is often ...

  19. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  20. Gilbert's Syndrome

    Science.gov (United States)

    ... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

  1. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  2. Moebius Syndrome

    Science.gov (United States)

    ... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

  3. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of...

  4. Angelman Syndrome

    Science.gov (United States)

    ... therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. × Treatment There ...

  5. Joubert Syndrome

    Science.gov (United States)

    ... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

  6. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  7. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  8. Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  9. Eagle's Syndrome

    OpenAIRE

    Pinheiro,Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento,Luiz Augusto; Oliveira,Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction:?Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  10. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  11. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  12. Proteinuric diseases with sodium retention: Is plasmin the link?

    DEFF Research Database (Denmark)

    Svenningsen, Per; Skøtt, Ole; Jensen, Boye L

    2012-01-01

    1. Sodium retention in disease states characterized by proteinuria, such as nephrotic syndrome, preeclampsia, and diabetic nephropathy, occurs through poorly understood mechanism(s). 2. In the nephrotic syndrome, data from experimental and clinical studies indicate that the sodium retention...... originates in the renal cortical collecting duct and involves hyper-activity of the epithelial sodium channel (ENaC). 3. The stimulus for the increased ENaC activity does not appear to involve any of the classical sodium retaining mechanisms, such as the renin-angiotensin-aldosterone system, arginine...... and diabetic nephropathy, which are also characterized by proteinuria and sodium retention. 7. In this review, we will examine the evidence for a role of urinary serine protease activity in the development of sodium and water retention in diseases characterised by proteinuria with a focus on the nephrotic...

  13. Expansion of phenotype and genotypic data in CRB2-related syndrome.

    Science.gov (United States)

    Lamont, Ryan E; Tan, Wen-Hann; Innes, A Micheil; Parboosingh, Jillian S; Schneidman-Duhovny, Dina; Rajkovic, Aleksandar; Pappas, John; Altschwager, Pablo; DeWard, Stephanie; Fulton, Anne; Gray, Kathryn J; Krall, Max; Mehta, Lakshmi; Rodan, Lance H; Saller, Devereux N; Steele, Deanna; Stein, Deborah; Yatsenko, Svetlana A; Bernier, François P; Slavotinek, Anne M

    2016-10-01

    Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis. All reported patients have been homozygotes or compound heterozygotes for sequence variants in the Crumbs, Drosophila, Homolog of, 2 (CRB2) genes. Variants affecting CRB2 function have also been identified in four families with steroid resistant nephrotic syndrome, but without any other known systemic findings. We ascertained five, previously unreported individuals with biallelic variants in CRB2 that were predicted to affect function. We compiled the clinical features of reported cases and reviewed available literature for cases with features suggestive of CRB2-related syndrome in order to better understand the phenotypic and genotypic manifestations. Phenotypic analyses showed that ventriculomegaly was a common clinical manifestation (9/11 confirmed cases), in contrast to the original reports, in which patients were ascertained due to renal disease. Two children had minor eye findings and one was diagnosed with a B-cell lymphoma. Further genetic analysis identified one family with two affected siblings who were both heterozygous for a variant in NPHS2 predicted to affect function and separate families with sequence variants in NPHS4 and BBS7 in addition to the CRB2 variants. Our report expands the clinical phenotype of CRB2-related syndrome and establishes ventriculomegaly and hydrocephalus as frequent manifestations. We found additional sequence variants in genes involved in kidney development and ciliopathies in patients with CRB2-related syndrome, suggesting that these variants may modify the phenotype.

  14. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  15. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  16. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  17. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  18. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  19. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  20. Influence of disease remission on renal dimensions in childhood ...

    African Journals Online (AJOL)

    Background: The hallmark of Nephrotic syndrome is massive proteinuria, with associated enlarged kidneys. However the association between remission status and size of the kidneys in patients with nephrotic syndrome is not known. This study is aimed at determining the dimensions of the kidneys of children with nephrotic ...

  1. Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes.

    Science.gov (United States)

    Morello, Roy; Lee, Brendan

    2002-05-01

    In recent years, our understanding of the molecular basis of kidney development has benefited from the study of rare genetic diseases affecting renal function. This has especially been the case with the differentiation of the highly specialized podocyte in the pathogenesis of human disorders and mouse phenotypes affecting the renal filtration barrier. This filtration barrier represents the end product of a complex series of signaling events that produce a tripartite structure consisting of interdigitating podocyte foot processes with intervening slit diaphragms, the glomerular basement membrane, and the fenestrated endothelial cell. Dysregulation of unique cytoskeletal and extracellular matrix proteins in genetic forms of nephrotic syndrome has shown how specific structural proteins contribute to podocyte function and differentiation. However, much less is known about the transcriptional determinants that both specify and maintain this differentiated cell. Our studies of a skeletal malformation syndrome, nail-patella syndrome, have shown how the LIM homeodomain transcription factor, Lmx1b, contributes to transcriptional regulation of glomerular basement membrane collagen expression by podocytes. Moreover, they raise intriguing questions about more global transcriptional regulation of podocyte morphogenesis.

  2. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  3. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  4. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  5. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  6. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  7. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  8. Eagle's Syndrome

    Science.gov (United States)

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  9. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  10. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  11. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  12. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  13. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  14. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  15. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  16. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  17. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  18. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  19. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  20. Meigs' Syndrome

    International Nuclear Information System (INIS)

    Baloch, S.; Khaskheli, M.; Farooq, S.

    2006-01-01

    Meigs' syndrome is a rare clinical condition commonly considered to be associated with malignant ovarian tumour. A case of unmarried female is presented who came with a slowly increasing abdominal mass. Clinical and ultrasonic investigations revealed a mobile, solid right adenexal tumour in the lower abdomen, along with ascites and pleural effusion of the right lung. The level of CA 125 was also raised. Diagnosis of Meigs' syndrome was confirmed after surgical intervention. The tumour was successfully removed and pleural effusion disappeared 15 days after the intervention. Cytomorphologic study of both the tumour and ascitic fluid was negative for malignancy. (author)

  1. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  2. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  3. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  4. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  5. Rett Syndrome

    Science.gov (United States)

    ... loss of interest in normal play Delayed speech development or loss of previously acquired speech abilities Problem behavior or marked mood swings Any clear loss of previously gained milestones in gross motor or fine motor skills Causes Rett syndrome is a rare genetic disorder. ...

  6. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  7. Piriformis Syndrome

    Science.gov (United States)

    ... can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. Clinical Trials Throughout the U.S. ... Definition Piriformis syndrome is a rare neuromuscular disorder that ...

  8. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

    A 24 years old female presented with hypertension, haemolysis, elevated liver enzymes and thrombocytopenia in an unconscious state after undergoing an emergency caesarian section. A diagnosis of HELLP syndrome was made on the above findings. Patient made an uneventful recovery with conservative management. A brief review of the literature is included along with the case report. (author)

  9. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  10. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  11. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  12. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  13. Kounis syndrome

    African Journals Online (AJOL)

    neoplastic agents), exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome com prises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital ...

  14. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  15. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  16. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  17. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  18. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  19. [Experimental study on two-way application of traditional Chinese medicines capable of promoting blood circulation and removing blood stasis with neutral property in cold and hot blood stasis syndrome I].

    Science.gov (United States)

    Hao, Er-Wei; Deng, Jia-Gang; Du, Zheng-Cai; Yan, Ke; Zheng, Zuo-Wen; Wang, Qin; Huang, Li-Zhen; Bao, Chuan-Hong; Deng, Xiu-Qiong; Lu, Xiao-Yan; Tang, Zhi-Ling

    2012-11-01

    To study the action characteristics of "two-way application and conditioned dominance" of traditional Chinese medicines with neutral property by observing the action characteristic of 10 traditional Chinese medicines capable of promoting blood circulation and removing blood stasis with neutral property in the microcirculation in rats with heat stagnation and blood stasis syndrome. The rat model with heat stagnation and blood stasis syndrome was established by injecting carrageenan and dry yeast, and the rat model with cold stagnation and blood stasis syndrome was built by the body freezing method. Ten traditional Chinese medicines with neutral property, including 5 with hot property and 5 with cold property, were selected for intervention to observe blood flow rate and flow state indicators in rat auricles and make a comparative analysis on action characteristics of traditional Chinese medicines with neutral property. ANOVA showed that among the 10 traditional Chinese medicines with neutral property, 6 such as Typhae Pollen, Sappan Lignum and Vaccariae Semen can obviously increase the blood flow rate (P traditional Chinese medicines with cold property can increase the blood flow rate (P medicines showed no notable effect; among the 5 traditional Chinese medicines with hot property, Carthamus tinctorius and Ligusticum chuanxiong can increase the blood flow rate (P traditional Chinese medicines with natural and cold properties showed similar effect on heat stagnation and blood stasis syndrome and better effect in increasing blood flow rate than those with hot property; those with natural and hot properties showed similar effect and better effect in increasing blood flow rate than those with cold property. Under the condition of heat stagnation and blood stasis syndrome, traditional Chinese medicines with neutral property have the similar action characteristics with those with cold property; wile under the condition of cold stagnation and blood stasis syndrome

  20. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  1. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  2. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  3. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  4. Paraneoplastiske syndromer

    OpenAIRE

    Røsbekk, Stein Helge

    2007-01-01

    During the last 50 years it has become clear that malignant tumours can induce symptoms unrelated to the mechanical effects of the primary tumour itself or its metastasis. Today, the name Paraneoplastic syndrome is given to those symptom complexes that may affect the blood cells, electrolytes, coagulation system, muscle, skin, nerve and the endocrine system. Endocrine symptoms were first recognised, and different hormones were isolated from the tumour tissue. However, tumour derived hormones ...

  5. Caroli's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Numan, F; Cokyueksel, O; Camuscu, S; Demir, K; Dueren, M

    1986-07-01

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen.

  6. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  7. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  8. [PHACES syndrome].

    Science.gov (United States)

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  9. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  10. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  11. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  12. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  13. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  14. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  15. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  16. Down syndrome and ionizing radiation.

    Science.gov (United States)

    Verger, P

    1997-12-01

    This review examines the epidemiologic and experimental studies into the possible role ionizing radiation might play in Down Syndrome (trisomy 21). It is prompted by a report of a temporal cluster of cases of this chromosomal disorder observed in West Berlin exactly 9 mo after the radioactive cloud from Chernobyl passed. In approximately 90% of cases, Down Syndrome is due to the nondisjunction of chromosome 21, most often in the oocyte, which may be exposed to ionizing radiation during two separate periods: before the completion of the first meiosis or around the time of ovulation. Most epidemiologic studies into trisomies and exposure to ionizing radiation examine only the first period; the Chernobyl cluster is related to the second. Analysis of these epidemiologic results indicates that the possibility that ionizing radiation might be a risk factor in Down Syndrome cannot be excluded. The experimental results, although sometimes contradictory, demonstrate that irradiation may induce nondisjunction in oogenesis and spermatogenesis; they cannot, however, be easily extrapolated to humans. The weaknesses of epidemiologic studies into the risk factors for Down Syndrome at birth (especially the failure to take into account the trisomy cases leading to spontaneous abortion) are discussed. We envisage the utility and feasibility of new studies, in particular among women exposed to prolonged or repeated artificially-produced ionizing radiation.

  17. Acute nephritic syndrome

    Science.gov (United States)

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

  18. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  19. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  20. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

    Full Text Available Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.