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Sample records for nephrogenic fibrosing dermopathy

  1. Nephrogenic systemic fibrosis: risk factors suggested from Japanese published cases

    DEFF Research Database (Denmark)

    Tsushima, Y; Kanal, E; Thomsen, H S

    2010-01-01

    The aim of this article is to review the published cases of nephrogenic systemic fibrosis (NSF) in Japan. The Japanese medical literature database and MedLine were searched using the keywords NSF and nephrogenic fibrosing dermopathy (January 2000 to March 2009). Reports in peer-reviewed journals ...

  2. A moderate response to plasmapheresis in nephrogenic systemic fibrosis

    Directory of Open Access Journals (Sweden)

    Pelin Ustuner

    2011-11-01

    Full Text Available Nephrogenic systemic fibrosis (NSF is a recently identified idiopathic cutaneous fibrosing disorder that occurs in the setting of renal failure. The disease initially called nephrogenic fibrosing dermopathy is closely linked to exposure to gadolinium-based contrast media used during magnetic resonance imaging in patients with renal insufficiency. Although little is known about the pathogenesis of this disease, the increased expression of transforming growth factor-beta has been demonstrated recently. Herein, we present a case of NSF was partially treated due to a moderate and temporary response to plasmapheresis with no recurrence for 6 months, but returned at the end of 6th month.

  3. Nephrogenic systemic fibrosis: risk factors suggested from Japanese published cases

    DEFF Research Database (Denmark)

    Tsushima, Y; Kanal, E; Thomsen, H S

    2010-01-01

    The aim of this article is to review the published cases of nephrogenic systemic fibrosis (NSF) in Japan. The Japanese medical literature database and MedLine were searched using the keywords NSF and nephrogenic fibrosing dermopathy (January 2000 to March 2009). Reports in peer-reviewed journals...... and meeting abstracts were included, and cases with biopsy confirmation were selected. 14 biopsy-verified NSF cases were found. In seven of eight patients reported after the association between gadolinium-based contrast agent (GBCA) and NSF was proposed, GBCA administration was documented: five received only...

  4. Clinical and histological findings in nephrogenic systemic fibrosis

    International Nuclear Information System (INIS)

    Cowper, Shawn E.; Rabach, Morgan; Girardi, Michael

    2008-01-01

    Nephrogenic systemic fibrosis (NSF) is a relative newcomer to the world of medicine. NSF was introduced just over 10 years ago as nephrogenic fibrosing dermopathy, but with further investigation, its systemic nature was determined. The strict adherence to a definition requiring both clinical and pathological concordance has allowed for careful separation of this entity from other fibrosing disorders, leading eventually to the realization that gadolinium-based contrast agents were closely associated with its onset. As planned prospective studies get underway, it is of paramount importance that researchers and clinicians realize that NSF remains a very challenging diagnosis, and that both clinical and histopathological criteria must be employed to reach the most accurate diagnosis possible

  5. Nephrogenic systemic fibrosis

    International Nuclear Information System (INIS)

    Samtleben, W.

    2007-01-01

    A scleromyxedema-like disease was recognized in 1997. In 2000 this disorder was first published and termed nephrogenic fibrosing dermopathy because all patients had advanced renal failure. In 2006 it was discovered that the patients had a history of a preceding contrast-enhanced magnetic resonance imaging (MRI). All patients had acute or chronic severe renal insufficiency with a glomerular filtration rate (GFR) 2 . So far a total of about 215 patients with this new skin disorder have been reported to international registries. The skin thickening has a typical histology and begins in the peripheral extremities and progresses proximally, including also the abdominal wall and the head in some patients. NSF involves not only the skin, but also the muscles and other organs (e.g., lungs, heart, eyes) in some patients. Therefore the term nephrogenic systemic fibrosis (NSF) was introduced. Skin fibrosis and sclerosis are usually progressive with disabling contractures of involved joints (knees, hands, feet). NSF may be lethal in up to 28% of patients. Spontaneous remissions are rare. No generally accepted treatment is available. So far, the pathogenesis is not well understood. One hypothesis supposes a role of gadolinium liberated from the contrast agents. As patients with acute or chronic advanced renal failure (GFR 2 ) including those with hepatorenal dysfunctions are at high risk to develop NSF after exposure to gadolinium-based contrast agents, contrast-enhanced MRI should be avoided in this group and alternative diagnostic procedures should be used whenever possible. (orig.) [de

  6. Nephrogenic systemic fibrosis after application of gadolinium-based contrast agents - a status paper; Nephrogene systemische Fibrose nach Anwendung gadoliniumhaltiger Kontrastmittel - ein Statuspapier zum aktuellen Stand des Wissens

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    Heinrich, M.; Uder, M. [Erlangen-Nuernberg Univ., Erlangen (Germany). Inst. fuer Radiologie

    2007-06-15

    Recently the association of a rare disease named ''nephrogenic systemic fibrosis'' (NSF) with the administration of gadolinium-containing contrast media, especially gadodiamide (Omniscan, GE-Healthcare), was described. NSF is a scleroderma-like disease characterised by widespread tissue fibrosis. Until now, NSF cases were observed only in patients with kidney disease. Almost all patients were suffering from chronic renal insufficiency, 90 % of them required renal replacement therapy. The true incidence of the disease is unknown. First retrospective analyses of selected collectives of patients with end-stage renal disease showed 2 - 5 % cases of NSF after administration of Gadolinium-containing contrast agents with an odds ratio of 20 - 50 in comparison to non-exposed controls. NSF is a serious adverse reaction, which may result in severe disabilities and even death. Therefore all radiologists applying gadolinium-based contrast agents should be informed about this disease and the recent recommendations for its prevention. On the basis of the published data, Omniscan should not be used in patients with severe renal impairment (GFR < 30 ml/min/1.73 m{sup 2}) and those who have had or are undergoing liver transplantation. In neonates and infants up to 1 year of age, Omniscan should only be used after careful consideration. Also the other gadolinium-based contrast agents should be used in high-risk patients only after careful consideration using the lowest dose possible.

  7. Nephrogenic systemic fibrosis associated with gadolinium based contrast agents: A summary of the medical literature reporting

    International Nuclear Information System (INIS)

    Broome, Dale R.

    2008-01-01

    Nephrogenic systemic fibrosis (NSF) is a systemic fibrosing disorder that principally affects the skin, but can involve virtually any tissue in the human body and result in significant disability and even death. Since 2006 numerous retrospective case reports and case series have reported a very strong association of this disease with exposure to gadolinium-based contrast agents (Gd-CA) for MR imaging in the setting of severe or end-stage renal disease. The purpose of this report is to summarize the medical literature reporting of biopsy-proven NSF cases in which the authors specifically investigated patient exposure to Gd-CA. A Pub Med MEDLINE search was performed using the key words-nephrogenic systemic fibrosis and nephrogenic fibrosing dermopathy. All case reports and case series of NSF were reviewed to determine if patients had a preceding exposure to Gd-CA and which specific Gd-CA was involved. If the original reports did not clarify the specific Gd-CA, I reviewed follow-up letters to the editors or contacted the authors to clarify which specific Gd-CA were linked to the NSF cases. If several reports originated from the same institution, clarification was also obtained to avoid redundant reporting. As of February 1, 2008 there have been 190 biopsy-proven cases of NSF published in the peer-reviewed literature with the following associations: 157 gadodiamide (Omniscan, GE Healthcare), 8 gadopentetate (Magnevist, Bayer Healthcare), 3 gadoversetamide (OptiMARK, Covidien), and 18 unspecified Gd-CA, and 4 confounded cases with more than one Gd-CA. Five cases of NSF were unassociated with Gd-CA

  8. Dermopathy of Graves′ disease: Clinico-pathological correlation

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    Sagili Vijaya Bhaskar Reddy

    2012-01-01

    Full Text Available Dermopathy of Graves′ disease is a classical, but uncommon extrathyroidal manifestation of Graves′ disease. The images of a typical case of dermopathy of Graves′ disease are presented along with clinico-pathological correlation.

  9. D-penicillamine induced degenerative dermopathy

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    Sujay Khandpur

    2015-01-01

    Full Text Available D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson′s disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy manifesting as skin fragility over pressure sites and cutis laxa-like changes.

  10. Restrictive Dermopathy: Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family

    International Nuclear Information System (INIS)

    Karaminejad, A.; Goodarzi, P.; Huong, Le Thi Thanh; Wehnert, Manfred S.

    2009-01-01

    Restrictive dermopathy (RD) is an autosomal recessive lethal human genetic disorder. It is characterized by intrauterine growth retardation, tight and rigid skin with erosions, multiple joint contractures, lung hypoplasia, prominent superficial vasculature and epidermal hyperkeratosis. In the present report, we describe the first case of restrictive dermopathy in a stillborn fetus of Iranian origin, confirmed by molecular genetic diagnosis. In the index case (G-30159), a homozygous one base insertion in ZMPSTE24exon 9 (c.1085-1086insT) was identified. We believe that by increasing awareness of this disease in clinicians, gynecologists and pathologists, we may be able to help families who have had suspected cases of restrictive dermopathy be diagnosed and offer molecular testing in carriers and prenatal diagnosis to prevent the occurrence of further affected cases. (author)

  11. Diabetes insipidus - nephrogenic

    Science.gov (United States)

    Nephrogenic diabetes insipidus; Acquired nephrogenic diabetes insipidus; Congenital diabetes insipidus; NDI ... of very dilute urine. NDI is rare. Congenital diabetes insipidus is present at birth. It is a ...

  12. Application of extracellular gadolinium-based MRI contrast agents and the risk of nephrogenic systemic fibrosis; Anwendung von extrazellulaeren gadoliniumhaltigen MR-Kontrastmitteln und Risiko der Nephrogenen Systemischen Fibrose

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    Heverhagen, J.T. [Univ. Hospital Bern (Switzerland). Inst. of Diagnostic, Interventional and Pediatric Radiology, Inselspital; Krombach, G.A. [Justus Liebig Univ. Hopsital Giessen (Germany). Diagnostic and Interventional Radiology; Gizewski, E. [Medical Univ. Innsbruck (Austria). Dept. of Neuroradiology

    2014-07-15

    Nephrogenic systemic fibrosis (NSF) is a serious, sometimes fatal disease. Findings in recent years have shown that a causal association between gadolinium containing contrast media and NSF is most likely. Therefore, the regulatory authorities have issued guidelines on the use of gadolinium-containing contrast media which have reduced the number of new cases of NSF to almost zero. However, it is for precisely this reason that the greatest care must still be taken to ensure that these guidelines are complied with. The most important factors are renal function, the quantity of gadolinium administered and coexisting diseases such as inflammation. All of these factors crucially influence the quantity of gadolinium released from the chelat in the body. This free gadolinium is thought to be the trigger for NSF. Other important factors are the stability of the gadolinium complex and furthermore the route of its elimination from the body. Partial elimination via the liver might be an additional protective mechanism. In conclusion, despite the NSF risk, contrast-enhanced MRI is a safe diagnostic procedure which can be used reliably and safely even in patients with severe renal failure, and does not necessarily have to be replaced by other methods.

  13. Nephrogenic systemic fibrosis: A brief review

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    Rajesh Waikhom

    2011-01-01

    Full Text Available Nephrogenic systemic fibrosis is a fibrosing disorder of the skin that develops in patients with advanced renal failure. It mostly presents with progressive hardening or induration of the skin of the extremities. Systemic involvement is also known to occur in this entity. Exposure to gadolinium contrast for radiological evaluation has been identified as the offending agent. The condition is progressive and can be seriously disabling. Therapeutic options are limited and not rewarding in majority of the cases. Awareness of this entity is important so that proper precautionary measures can be taken at the earliest to ameliorate the condition.

  14. Nephrogenic systemic fibrosis

    Directory of Open Access Journals (Sweden)

    Bhushan Madke

    2011-01-01

    Full Text Available Nephrogenic systemic fibrosis (NSF is a relatively new fibrosing disorder which has caught the attention of various specialities in the past decade. NSF is an extremely disabling and often painful condition, affecting up to 13% of the individuals with chronic kidney disease. The administration of a gadolinium chelate contrast agent has been reported to induce the development of NSF, particularly in patients who have acute or chronic renal disease with a glomerular filtration rate (GFR lower than 30-mL/min/1.73 m 2 and in those with acute renal insufficiency. Mass spectroscopy studies have demonstrated particles of gadolinium in the lesional tissue. The exact pathogenesis of this curious sclerosing condition is unknown. The role of the aberrant targeting of ′circulating fibrocytes′ to the peripheral tissues and viscera has been hypothesized. NSF has distinct clinicopathological features in the setting of renal failure and needs to be looked upon as a new entity on the block. The condition is characterized by irregular indurated plaques, with amoeba-like projections and islands of sparing, chiefly on the trunk and extremities. Flexion contractures of fingers, knees, and elbow joints are known to occur in advanced cases of NSF. The course is frequently associated with painful episodes and loss of ambulation. Histopathology shows haphazard arrangement of thickened bundles of collagen, varying amount of mucin, and increased population of fibroblast-like cells in the dermis. Immunohistochemistry shows increased deposition of type-I procollagen and CD 34+ cells having fibroblastic activity. The condition is refractory to treatment with corticosteroids and immunosuppressive agents. Various modalities of therapy such as UVA1 phototherapy, imatinib mesylate, photodynamic therapy, plasmapheresis, extracorporeal photochemotherapy, and high-dose intravenous immunoglobulin have shown a moderate degree of improvement in skin thickness scores. A prudent

  15. Nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Marckmann, Peter

    2008-01-01

    PURPOSE OF REVIEW: The aim of this article is to outline the history of nephrogenic systemic fibrosis, a new and serious disease of patients with renal failure, and to give an update on its aetiology and prevalence. RECENT FINDINGS: Epidemiological and histochemical studies demonstrated....... Increasingly poor renal function, aberrations in calcium-phosphate metabolism and erythropoietin treatment seem to increase the risk of the disease and its severity. Up to 25-30% of patients with renal failure exposed to gadolinium-based contrast agents may develop nephrogenic systemic disease. The figure...... that gadolinium-containing contrast agents used for magnetic resonance imaging have an essential causative role in most, if not all, cases of nephrogenic systemic fibrosis. One particular agent, gadodiamide, caused the majority of cases, but gadopentetate dimeglumine has also been implicated in several cases...

  16. Nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Marckmann, Peter; Skov, Lone; Rossen, Kristian

    2006-01-01

    Nephrogenic systemic fibrosis is a new, rare disease of unknown cause that affects patients with renal failure. Single cases led to the suspicion of a causative role of gadodiamide that is used for magnetic resonance imaging. This study therefore reviewed all of the authors' confirmed cases...... of nephrogenic systemic fibrosis (n = 13) with respect to clinical characteristics, gadodiamide exposure, and subsequent clinical course. It was found that all had been exposed to gadodiamide before the development of nephrogenic systemic fibrosis. The delay from exposure to first sign of the disease was 2 to 75...... d (median 25 d). Odds ratio for acquiring the disease when gadodiamide exposed was 32.5 (95% confidence interval 1.9 to 549.2; P

  17. Nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Khurram, Misbah; Skov, Lone; Rossen, Kristian

    2007-01-01

    Nephrogenic systemic fibrosis (NSF) is a fibrotic disease seen in renal failure patients that may lead to severe physical disability. It has been demonstrated in recent studies that NSF can be caused by some gadolinium-containing MRI contrast agents. In this report we present one of a total of 26...

  18. [Nephrogenic diabetes insipidus].

    Science.gov (United States)

    Velásquez-Jones, Luis; Medeiros-Domingo, Mara

    The anti-diuretic hormone arginine-vasopressin (AVP) is released from the pituitary and regulates water reabsorption in the principal cells of the kidney collecting duct. Binding of AVP to the arginine-vasopressin receptor type-2 in the basolateral membrane leads to translocation of aquaporin-2 water channels to the apical membrane of the principal cells of the collecting duct, inducing water permeability of the membrane. This results in water reabsorption in the collecting duct of the nephron following an osmotic gradient. Nephrogenic diabetes insipidus is caused by partial or complete renal resistance to the effects of AVP. Congenital nephrogenic diabetes insipidus is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their urine. Acquired nephrogenic diabetes insipidus can be caused by electrolyte imbalances (e.g., hypercalcemia, hypokalemia), renal/extra-renal diseases and drugs (e.g., lithium toxicity). This article reviews the causes, clinical manifestations, diagnosis and treatment of patients with nephrogenic diabetes insipidus. Based on more in-depth mechanistic understanding, new therapeutic strategies are current being explored. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  19. Clinical, epidemiologic, histopathologic and molecular features of an unexplained dermopathy.

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    Pearson, Michele L; Selby, Joseph V; Katz, Kenneth A; Cantrell, Virginia; Braden, Christopher R; Parise, Monica E; Paddock, Christopher D; Lewin-Smith, Michael R; Kalasinsky, Victor F; Goldstein, Felicia C; Hightower, Allen W; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L

    2012-01-01

    Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006-2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. We identified 115 case-patients. The prevalence was 3.65 (95% CI = 2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p = .113). Case-patients had a median age of 52 years (range: 17-93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD = 12.9) and 35.45 (SD = 12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical

  20. Clinical, epidemiologic, histopathologic and molecular features of an unexplained dermopathy.

    Directory of Open Access Journals (Sweden)

    Michele L Pearson

    Full Text Available BACKGROUND: Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. METHODS: A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC during 2006-2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. RESULTS: We identified 115 case-patients. The prevalence was 3.65 (95% CI = 2.98, 4.40 cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p = .113. Case-patients had a median age of 52 years (range: 17-93 and were primarily female (77% and Caucasian (77%. Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD = 12.9 and 35.45 (SD = 12.89, respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies; skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. CONCLUSIONS: This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health

  1. Genetics Home Reference: nephrogenic diabetes insipidus

    Science.gov (United States)

    ... with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). ... gene have features of nephrogenic diabetes insipidus , including polyuria and polydipsia. A characteristic of X-linked inheritance ...

  2. Nephrogenic systemic fibrosis: epidemiology update

    DEFF Research Database (Denmark)

    Marckmann, P.

    2008-01-01

    Purpose of review The aim of this article is to outline the history of nephrogenic systemic fibrosis, a new and serious disease of patients with renal failure, and to give an update on its aetiology and prevalence. Recent findings Epidemiological and histochemical studies demonstrated....... Increasingly poor renal function, aberrations in calcium-phosphate metabolism and erythropoietin treatment seem to increase the risk of the disease and its severity. Up to 25-30% of patients with renal failure exposed to gadolinium-based contrast agents may develop nephrogenic systemic disease. The figure...... that gadolinium-containing contrast agents used for magnetic resonance imaging have an essential causative role in most, if not all, cases of nephrogenic systemic fibrosis. One particular agent, gadodiamide, caused the majority of cases, but gadopentetate dimeglumine has also been implicated in several cases...

  3. Nephrogenic diabetes insipidus.

    Science.gov (United States)

    Bockenhauer, D; Bichet, Daniel G

    2017-04-01

    In nephrogenic diabetes insipidus (NDI), the kidney is unable to concentrate urine despite elevated concentrations of the antidiuretic hormone arginine-vasopressin. In congenital NDI, polyuria and polydipsia are present from birth and should be immediately recognized to avoid severe episodes of dehydration. Unfortunately, NDI is still often recognized late after a 'diagnostic odyssey' involving false leads and dangerous treatments.Once diagnosed, appropriate treatment can be started. Moreover, laboratory studies have identified promising new compounds, which may help achieve urinary concentration independent of vasopressin. MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome.We distinguish two types of hereditary NDI: a 'pure' type with loss of water only and a complex type with loss of water and ions. Mutations in the AVPR2 or AQP2 genes, encoding the vasopressin V2 receptor and the water channel Aquaporin2, respectively, lead to a 'pure' NDI with loss of water but normal conservation of ions. Mutations in genes that encode membrane proteins involved in sodium chloride reabsorption in the thick ascending limb of Henle's loop lead to Bartter syndrome, a complex polyuric-polydipsic disorder often presenting with polyhydramnios. A new variant of this was recently identified: seven families were described with transient antenatal Bartter's syndrome, polyhydramnios and MAGED2 mutations.Multiple compounds have been identified experimentally that may stimulate urinary concentration independently of the vasopressin V2 receptor. These compounds may provide new treatments for patients with X-linked NDI. A plea for early consideration of the diagnosis of NDI, confirmation by phenotypic and/or genetic testing and appropriate adjustment of treatment in affected patients.

  4. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

    NARCIS (Netherlands)

    Navarro, Claire L.; de Sandre-Giovannoli, Annachiara; Bernard, Rafaëlle; Boccaccio, Irène; Boyer, Amandine; Geneviève, David; Hadj-Rabia, Smail; Gaudy-Marqueste, Caroline; Sillevis Smitt, Henk; Vabres, Pierre; Faivre, Laurence; Verloes, Alain; van Essen, Ton; Flori, Elisabeth; Hennekam, Raoul; Beemer, Frits A.; Laurent, Nicole; Le Merrer, Martine; Cau, Pierre; Lévy, Nicolas

    2004-01-01

    Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small

  5. Nephrogenic Systemic Fibrosis in Denmark

    DEFF Research Database (Denmark)

    Elmholdt, Tina Rask; Olesen, Anne; J�rgensen, Bettina

    2013-01-01

    Nephrogenic systemic fibrosis is a debilitating and painful disorder with an increased stimulation of the connective tissue in the skin and systemic tissues. The disease is associated with exposure to gadolinium-based contrast agent used in magnetic resonance imaging in patients with renal...

  6. Nephrogenic diabetes insipidus in children

    NARCIS (Netherlands)

    Knoers, Nine V A M; Levtchenko, Elena N.

    2015-01-01

    Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVP2R or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. In this chapter, the clinical aspects as well as the current

  7. Autoantibodies in cryptogenic fibrosing alveolitis

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    du Bois Ron

    2001-02-01

    Full Text Available Abstract The pathogenesis of cryptogenic fibrosing alveolitis (CFA involves injury, an immune/inflammatory response and fibrosis. The cause of the injury is unknown, but the identification of serum autoantibodies makes an autoimmune aetiology attractive. The core study on which this commentary is based used novel cloning and serum screening technologies in order to identify new public and private autoantibodies in sera from 12 patients with CFA. Largely negative conclusions were drawn from that study. However, we suggest that the prevalence of autoantibodies may have been underestimated, that the study was timely and that this approach is worth pursuing further.

  8. TEMPORAL RELATIONSHIP BETWEEN THE ONSET OF THYROID DERMOPATHY AND GRAVES' OPHTHALMOPATHY

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    Mohammad Pajhouhi

    1993-06-01

    Full Text Available Pretibial myxedema is an uncommon manifestation of Graves' disease and because of its rarity, information regarding its natural course and its relationship with other manifestations of Graves' disease is not sufficient."nWe reviewed 150 consecutive cases diagnosed as having pretibial myxedema in a twenty-year period in a tertiary care center. Only one patient in this group did not have ophthalmopathy, and the majority of cases had significant proptosis and ophthalmopathy, 30% required orbital decompression surgery. Dermopathy is a late manifestation of the Graves' disease and its onset is usually after the diagnosis of hyperthyroidism and ophthalmopathy. In a few patients, dermopathy preceded diagnosis of hyperthyroidism or the onset of ophthalmopathy. Fourteen patients have never had hyperthyroid, eleven patients in this group had developed spontaneous hypothyroidism."nAll cases showed the involvement of the lower extremities, and only one patient showed to have combined upper and lower extremities involvement. The most common form of thyroid dermopathy was non-pitting edema. Nodular and plaque forms were also relatively common and occurred with equal frequency. Polypoid form occurred in one patient and elephantiatic form in another. There was no consistent correlation among different types of dermopathy and severity of eye disease."nDuring a three-month to nineteen-year follow up in 120 patients, complete remission was observed only in twelve patients. Partial remission was more common and occurred more frequently in patients who had local steroid therapy. it is possible that patients with remission might have been excluded of the follow up program.Thus, the remission data should be interpreted cautiously.

  9. Nephrogenic adenoma of the ureter

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    Mustafa Burak Hoscan

    2012-04-01

    Full Text Available Nephrogenic adenoma (NA is an uncommon benign lesion of the urothelial tract. The diagnostic features that are useful in the recognition of this benign entity are: the characteristic mixture of various architectural patterns, associated stromal edema and inflammation, hyaline sheath around tubules, and lack of mitotic activity. Although NA appears with hematuria or obstruction, frequently found incidentally in endoscopy or imaging modalities.

  10. Frontal fibrosing alopecia treatment options.

    Science.gov (United States)

    Fertig, Raymond; Tosti, Antonella

    2016-11-01

    Frontal fibrosing alopecia (FFA) is a rare dermatologic disease that causes scarring and hair loss and is increasing in prevalence worldwide. FFA patients typically present with hair loss in the frontal scalp region and eyebrows which may be associated with sensations of itching or burning. FFA is a clinically distinct variant of lichen planopilaris (LPP) that affects predominantly postmenopausal women, although men and premenopausal women may also be affected. Early diagnosis and prompt treatment are necessary to prevent definitive scarring and permanent hair loss. Data from retrospective studies indicate that 5-alpha-reductase inhibitors (5aRIs) are effective in stabilizing the disease. In our clinical experience, we have seen optimal results treating FFA patients with oral finasteride in conjunction with hydroxychloroquine, topical calcineurin inhibitors (tacrolimus) and excimer laser in patients with signs of active inflammation.

  11. Renal function, nephrogenic systemic fibrosis and other adverse reactions associated with gadolinium-based contrast media.

    Science.gov (United States)

    Canga, Ana; Kislikova, Maria; Martínez-Gálvez, María; Arias, Mercedes; Fraga-Rivas, Patricia; Poyatos, Cecilio; de Francisco, Angel L M

    2014-01-01

    Nephrogenic systemic fibrosis is a fibrosing disorder that affects patients with impaired renal function and is associated with the administration of gadolinium-based contrast media used in MRI. Despite being in a group of drugs that were considered safe, report about this potentially serious adverse reaction was a turning point in the administration guidelines of these contrast media. There has been an attempt to establish safety parameters to identify patients with risk factors of renal failure. The close pharmacovigilance and strict observation of current regulations, with special attention being paid to the value of glomerular filtration, have reduced the published cases involving the use of gadolinium-based contrast media. In a meeting between radiologists and nephrologists we reviewed the most relevant aspects currently and recommendations for its prevention.

  12. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

    NARCIS (Netherlands)

    Navarro, Claire Laure; Esteves-Vieira, Vera; Courrier, Sebastien; Boyer, Amandine; Thuy Duong Nguyen, [No Value; Le Thi Thanh Huong, [No Value; Meinke, Peter; Schroeder, Winnie; Cormier-Daire, Valerie; Sznajer, Yves; Amor, David J.; Lagerstedt, Kristina; Biervliet, Martine; van den Akker, Peter C.; Cau, Pierre; Roll, Patrice; Levy, Nicolas; Badens, Catherine; Wehnert, Manfred; De Sandre-Giovannoli, Annachiara

    Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most

  13. Severity Stratification by Compression Ultrasound Examination in Lipodermatosclerosis and Diabetic Dermopathy Patients: a Report of Three Cases

    Directory of Open Access Journals (Sweden)

    Podoleanu Cristian

    2017-06-01

    Full Text Available Lipodermatosclerosis and diabetic dermopathy are low-risk skin lesions with many similar clinical features, except for venous abnormalities such as chronic venous insufficiency, but are rarely a reason for referring the patient to vascular ultrasound examination. We present 3 serial cases in which the compression ultrasound examination (CUS of the venous circulation of the affected limbs was of utmost importance in the severity stratification. Asymptomatic deep venous thrombosis (DVT was found in the first two cases, while in the third case the CUS excluded any type of vascular involvement, leading to a definite diagnosis of diabetic dermopathy. Lipodermatosclerosis may be associated with asymptomatic DVT due to chronic venous insufficiency, and early referral to CUS positively impacts further patient management.

  14. Nephrogenic adenoma. Reports of two cases

    DEFF Research Database (Denmark)

    Osther, P J; Starklint, H

    1989-01-01

    Nephrogenic adenoma is a rare lesion of the urinary tract. Two cases in the urinary bladder are described. Histologically the tumor consists of cystic and tubular structures resembling the distal part of the nephron. The etiology and pathogenesis are discussed and a new etiologic theory is presen...

  15. Nephrogenic systemic fibrosis: history and epidemiology

    DEFF Research Database (Denmark)

    Thomsen, Henrik S

    2009-01-01

    Nephrogenic systemic fibrosis (NSF) is a new disease; the first case was diagnosed in 1997. It took 9 years before an association between NSF and gadolinium-based contrast agents (Gd-CAs) was identified. Gadolinium has several advantages for use in relation to enhanced MRI, but it is also a toxic...... that the real number of patients who have NSF has not been accurately totaled; the disease seems to be underdiagnosed for various reasons....

  16. Bendamustine-induced nephrogenic diabetes insipidus
.

    Science.gov (United States)

    Derman, Benjamin A; Jain, Milli; McAninch, Elizabeth A; Gashti, Casey

    2017-01-01

    A 59-year-old man presented with polyuria and polydipsia immediately following his sixth cycle of rituximab and bendamustine for chronic lymphocytic leukemia. He initially compensated by increasing his oral fluid intake at home, but later developed septic shock and was admitted with orders to be kept nil per os (NPO). This prompted an episode of acute hypernatremia during which he exhibited continued polyuria with inappropriately dilute urine. Desmopressin challenge yielded no response in the urine osmolality, indicating a nephrogenic source of his diabetes insipidus (DI). He had no known exposure to other causative agents and had demonstrated a robust response to chemotherapy. The patient became eunatremic once oral intake was resumed and his infection was treated. Two months after presentation, he remained symptomatic. A trial with hydrochlorothiazide resulted in a significant increase in urine osmolality and subsequent decrease in urine output. To our knowledge, this is the first case of nephrogenic diabetes insipidus after rituximab and bendamustine exposure. We propose that bendamustine, similar to the alkylating agent ifosfamide, is toxic to the glomerulus and proximal tubule cells and is the most likely cause of the patient's nephrogenic DI.
.

  17. Molecular Targets for the Treatment of Fibrosing Cholangiopathies

    NARCIS (Netherlands)

    Maillette de Buy Wenniger, L. J.; Oude Elferink, R. P.; Beuers, U.

    2012-01-01

    Emerging pathophysiologic insights are leading to novel approaches to treating fibrosing cholangiopathies. The current treatment, using ursodeoxycholic acid (UDCA), may slow the progression of some chronic cholangiopathies but cannot heal them. Apart from immunosuppressive interventions aimed at

  18. Nephrogenic systemic fibrosis: chronic imaging findings and review of the medical literature

    International Nuclear Information System (INIS)

    Weigle, Jeffrey P.; Broome, Dale R.

    2008-01-01

    Nephrogenic systemic fibrosis (NSF) is a systemic fibrosing disorder which has been strongly associated with exposure to gadolinium-based contrast media (GBCM) in the setting of renal insufficiency. Although this disorder primarily affects the skin, it can result in severe joint contractures, disabilities and even death. However, to date, there have been no published studies reporting chronic imaging findings of NSF. In this report we present three biopsy-proven cases of NSF with the associated chronic MRI, radiographic and bone scintigraphy findings. Two of the patients had been exposed to gadodiamide, and one had been exposed to gadopentetate dimeglumine prior to the onset of NSF. Two are newly reported cases. One patient's subacute imaging findings have previously been reported, but significant chronic images will now be presented. This patient became severely disabled from contractures and developed long bone smooth periosteal reaction, extensive intra-articular and periarticular calcifications, musculotendinous heterotopic ossification and ankylosis of several joints. One of the patients underwent renal transplantation 6 months after GBCM exposure, with near complete resolution of the skin fibrosis. The third patient had persistent MRI findings of skin thickening, with low T1 and high T2 signal intensity 5 years after exposure to gadodiamide. A review of the medical literature is provided, emphasizing the association of NSF with various GBCM. These cases broaden our understanding of the long-term imaging findings and complications of NSF and the stratified risk of NSF with various GBCM. (orig.)

  19. Possible involvement of gadolinium chelates in the pathophysiology of nephrogenic systemic fibrosis: A critical review

    International Nuclear Information System (INIS)

    Idee, Jean-Marc; Port, Marc; Medina, Christelle; Lancelot, Eric; Fayoux, Emmanuelle; Ballet, Sebastien; Corot, Claire

    2008-01-01

    Nephrogenic systemic fibrosis (NSF) is a recently described, highly debilitating scleroderma-like disease occurring in patients with severe or end-stage renal failure. NSF is characterized by cutaneous papules and coalescing plaques ('peau d'orange' appearance) and a wooden consistency. It may ultimately cause disabling contractures of several joints, thus making many patients wheelchair-dependent. NSF has been associated to prior administration of gadolinium chelates (GC) used as contrast agents for magnetic resonance imaging. The best available treatment option at the present time is renal transplantation. The mechanism of NSF has not been fully elucidated. Several hypotheses have been proposed so far and are critically discussed in the present review article. Gadolinium has been found in skin biopsy samples of patients. The most widely accepted hypothesis is related to dechelation of less stable GC, progressively releasing free Gd 3+ which may subsequently lead to the attraction of CD34+, CD45+, pro-collagen+ circulating fibrocytes via the release of chemokines, thereby inducing systemic fibrosing disorders. Pre-existing renal failure may facilitate the process by delaying the excretion of GC. A complex interplay between gadolinium and co-factors (pro-inflammatory status, vascular injury, high dose of erythropoietin, high levels of calcium, phosphorus, etc.) may occur in patients with impaired renal function. This and other hypotheses remain to be investigated, as well as the role and independence of co-factors

  20. Nephrogenic rests mimicking Wilms' tumor on CT

    International Nuclear Information System (INIS)

    Subhas, Naveen; Siegelman, Stanley S.; Argani, Pedram; Gearhart, John P.

    2004-01-01

    Nephrogenic rests (NR) are persistent benign remnants of embryonic renal tissue. A small percentage of these may develop into Wilms' tumor (WT). Radiologic imaging is relied upon to differentiate between these entities, with the hallmark of malignant transformation being growth on serial imaging studies. There is, however, considerable overlap in their imaging characteristics. The authors present a case of two biopsy-proven NR in a 2-year-old girl with sporadic aniridia that were indistinguishable from WT on initial radiologic studies. One of the NR grew on serial imaging studies mimicking a WT, but after resection was confirmed to be a benign hyperplastic NR on pathologic examination. (orig.)

  1. Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Ronald Tan

    2016-01-01

    Full Text Available Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB. Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

  2. Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review.

    Science.gov (United States)

    Tan, Ronald; Martires, Joanne; Kamangar, Nader

    2016-01-01

    Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB). Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

  3. Genetics Home Reference: hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

    Science.gov (United States)

    ... Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis Printable PDF Open All Close All Enable Javascript ... Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary ... Lung, and Blood Institute (NHLBI): Pulmonary Function Tests National ...

  4. Fibrosing Mediastinitis: Successful Stenting of the Pulmonary Artery

    Directory of Open Access Journals (Sweden)

    Rennae Thiessen

    2008-01-01

    Full Text Available Fibrosing mediastinitis is a rare benign condition, which can cause compression of the pulmonary or systemic vessels, tracheobronchial tree, coronary arteries or esophagus, leading to disabling clinical symptoms and even death. The case of a 26-year-old woman who presented with dyspnea is described. She was found to have 80% stenosis of the right pulmonary artery secondary to fibrosing mediastinitis. The stenosis was managed successfully with an endovascular Palmaz-Schatz stent, and the patient remains symptom-free 10 years later.

  5. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    International Nuclear Information System (INIS)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings. (orig.)

  6. Idiopathic fibrosing pancreatitis: A cause of obstructive jaundice in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Atkinson, G.O. Jr.; Wyly, J.B.; Gay, B.B. Jr.; Ball, T.I.; Winn, K.J.

    1988-01-01

    Idiopathic fibrosing pancreatitis is a chronic process of unknown etiology characterized by extensive infiltration of the pancreatic parenchyma by fibrous tissue. This disease process is uncommon in the pediatric patient and is consequently rarely considered in the differential diagnosis of abdominal pain and jaundice in the child. The sonographic demonstration of a dilated biliary tree and common bile duct compressed by an enlarged pancreas may be the first suggestion of this entity. Two patients with idiopathic fibrosing pancreatitis and obstructive jaundice are reported with a review of the clinical, radiographic, and pathologic findings.

  7. Nephrogenic systemic fibrosis: late skin manifestations

    DEFF Research Database (Denmark)

    Bangsgaard, Nannie; Marckmann, Peter; Rossen, Kristian

    2009-01-01

    BACKGROUND: Nephrogenic systemic fibrosis (NSF) is a serious disease that occurs in patients with severe renal disease and is believed to be caused by gadolinium-containing contrast agents. A detailed description of the late skin manifestations of NSF is important to help dermatologists...... and nephrologists recognize the disease. OBSERVATIONS: We studied 17 patients with NSF late in the disease. All patients showed epidermal atrophy and hairlessness of the affected regions, primarily the lower legs. Affected areas were symmetrically distributed and hyperpigmented in most cases. Eleven patients showed......: This descriptive case series of patients with NSF gives a detailed clinical picture of the skin manifestations late in the disease. It demonstrates that the clinical picture in the late stage has a varied presentation and that NSF has a significant effect on the quality of life....

  8. Current status of nephrogenic systemic fibrosis

    International Nuclear Information System (INIS)

    Daftari Besheli, L.; Aran, S.; Shaqdan, K.; Kay, J.; Abujudeh, H.

    2014-01-01

    Nephrogenic systemic fibrosis (NSF) occurs in patients with advanced chronic kidney disease (CKD) or acute renal failure, most commonly following exposure to gadolinium-based contrast agents (GBCAs). NSF can be debilitating and associated with increased mortality. The putative association of NSF with GBCAs prompted the development of guidelines to limit the use of these contrast agents in at-risk patients. Indeed, the incidence of NSF has decreased dramatically following application of these guidelines, which appears to be the only effective means of decreasing NSF incidence. Thus, increasing clinician awareness of these updated guidelines is important. The present review introduces and compares updated guidelines for GBCA use and discusses the latest advances in the understanding of the pathogenic mechanisms and treatment of NSF

  9. Nephrogenic systemic fibrosis and gadolinium-based contrast media

    DEFF Research Database (Denmark)

    Thomsen, Henrik S; Morcos, Sameh K; Almén, Torsten

    2012-01-01

    PURPOSE: To update the guidelines of the Contrast Media Safety Committee (CMSC) of the European Society of Urogenital Radiology (ESUR) on nephrogenic systemic fibrosis and gadolinium-based contrast media. AREAS COVERED: Topics reviewed include the history, clinical features and prevalence of neph...... guidelines regarding gadolinium contrast agents minimises the risk of NSF • Potential long-term harm from gadolinium accumulation in the body is discussed.......PURPOSE: To update the guidelines of the Contrast Media Safety Committee (CMSC) of the European Society of Urogenital Radiology (ESUR) on nephrogenic systemic fibrosis and gadolinium-based contrast media. AREAS COVERED: Topics reviewed include the history, clinical features and prevalence...... of nephrogenic systemic fibrosis and the current understanding of its pathophysiology. The risk factors for NSF are discussed and prophylactic measures are recommended. The stability of the different gadolinium-based contrast media and the potential long-term effects of gadolinium in the body have also been...

  10. Localization fibrosing mediastinitis causing pulmonary infraction: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sur, Young Keun; Kim, Eun Young; Kang, Doo Kyoung; Park, Kyung Joo; Koh, Young Wha; Sun, Joo Sung [Ajou University School of Medicine, Suwon (Korea, Republic of)

    2016-06-15

    A 44-year-old female patient visited our emergency room for hemoptysis and refractory chest wall pain of 2 months duration. She had no history of smoking or other medical conditions. Chest CT scan showed homogenously enhancing soft tissue mass without calcification at the left pulmonary hilum. Encasing and compression of the left lower pulmonary artery by the mass had resulted in pulmonary infarction in the left lower lobe. Laboratory tests for tuberculosis, fungus, and vasculitis were all negative. The patient underwent surgical biopsy and resection of infarcted left lower lobe that was histopathologically confirmed as fibrosing mediastinitis. Herein, we reported a rare case of surgically confirmed and treated localized fibrosing mediastinitis causing pulmonary infarction.

  11. Lithium-associated primary hyperparathyroidism complicated by nephrogenic diabetes insipidus.

    Science.gov (United States)

    Aksakal, Nihat; Erçetin, Candaş; Özçınar, Beyza; Aral, Ferihan; Erbil, Yeşim

    2015-01-01

    Lithium-associated hyperparathyroidism is the leading cause of hypercalcemia in lithium-treated patients. Lithium may lead to exacerbation of pre-existing primary hyperparathyroidism or cause an increased set-point of calcium for parathyroid hormone suppression, leading to parathyroid hyperplasia. Lithium may cause renal tubular concentration defects directly by the development of nephrogenic diabetes insipidus or indirectly by the effects of hypercalcemia. In this study, we present a female patient on long-term lithium treatment who was evaluated for hypercalcemia. Preoperative imaging studies indicated parathyroid adenoma and multinodular goiter. Parathyroidectomy and thyroidectomy were planned. During the postoperative course, prolonged intubation was necessary because of agitation and delirium. During this period, polyuria, severe dehydration, and hypernatremia developed, which responded to controlled hypotonic fluid infusions and was unresponsive to parenteral desmopressin. A diagnosis of nephrogenic diabetes insipidus was apparent. A parathyroid adenoma and multifocal papillary thyroid cancer were detected on histopathological examination. It was thought that nephrogenic diabetes insipidus was masked by hypercalcemia preoperatively. A patient on lithium treatment should be carefully followed up during or after surgery to prevent life-threatening complications of previously unrecognized nephrogenic diabetes insipidus, and the possibility of renal concentrating defects on long-term lithium use should be sought, particularly in patients with impaired consciousness.

  12. Nephrogenic systemic fibrosis (NSF) and gadolinium-based contrast ...

    African Journals Online (AJOL)

    Nephrogenic systemic fibrosis (NSF), unknown before March 1997 and first described in 2000, is a systemic disorder characterised by widespread tissue fibrosis. The first known case occurred in 1997, after the use of gadolinium-based contrast agents (GBCAs) at high doses in patients with renal failure had become routine.

  13. Ventilation perfusion radionuclide imaging in cryptogenic fibrosing alveolitis

    International Nuclear Information System (INIS)

    Bourke, S.J.; Hawkins, T.; Keavey, P.M.; Gascoigne, A.D.; Corris, P.A.

    1993-01-01

    There is increasing interest in ventilation perfusion (V/Q) imaging in cryptogenic fibrosing alveolitis because of the data these scans provide on the dynamic V/Q relationships in such patients undergoing single lung transplantation. We analysed the V/Q scans of 45 consecutive patients with advanced cryptogenic fibrosing alveolitis being considered for single lung transplantation. Scans were classified according to the presence, severity and degree of matching of defects in ventilation and perfusion images and the results were compared with the data obtained from lung function tests. Ventilation images showed defects in 13 (29%) and ''washout delay'' in 15 (33%) patients; 10 (22%) patients had asymmetric distribution of ventilation with one lung receiving >60% of total ventilation. Perfusion images showed normal perfusion in 8 (18%), mild defects in 18 (40%) and major defects in 19 (42%) patients. The distribution of perfusion between lungs was significantly asymmetric in 20 (45%) patients. V/Q images were matched in 15 (33%), mildly mismatched in 15 (33%) and severely mismatched in 15 (33%) patients, but the degree of V/Q mismatch did not show a relationship to KCO, PaO 2 or A-aO 2 gradient. The appearances were atypical of pulmonary embolism in eight patients. (Author)

  14. Central pontine myelinolysis secondary to hypokalaemic nephrogenic diabetes insipidus.

    LENUS (Irish Health Repository)

    Davenport, C

    2010-01-01

    Central pontine myelinolysis (CPM) has been described in alcoholic patients and in the aftermath of rapid correction of chronic hyponatraemia. We describe a case of CPM occurring secondary to nephrogenic diabetes insipidus (DI), which developed as a consequence of severe hypokalaemia. A 63-year-old man with alcohol dependence was admitted to hospital with severe pulmonary sepsis and type 1 respiratory failure. On admission, he had euvolaemic hyponatraemia of 127 mmol\\/L, consistent with a syndrome of inappropriate antidiuretic hormone secondary to his pneumonia. Following admission, his plasma potassium dropped from 3.2 to a nadir of 2.3 mmol\\/L. Mineralocorticoid excess, ectopic adrenocorticotrophic hormone production and other causes of hypokalaemia were excluded. The hypokalaemia provoked significant hypotonic polyuria and a slow rise in plasma sodium to 161 mmol\\/L over several days. Plasma glucose, calcium and creatinine were normal. The polyuria did not respond to desmopressin, and subsequent correction of his polyuria and hypernatraemia after normalization of plasma potassium confirmed the diagnosis of nephrogenic DI due to hypokalaemia. The patient remained obtunded, and the clinical suspicion of osmotic demyelination was confirmed on magnetic resonance imaging. The patient remained comatose and passed away 10 days later. This is the first reported case of nephrogenic DI resulting in the development of CPM, despite a relatively slow rise in plasma sodium of less than 12 mmol\\/L\\/24 h. Coexisting alcohol abuse, hypoxaemia and hypokalaemia may have contributed significantly to the development of CPM in this patient.

  15. [Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].

    Science.gov (United States)

    Morin, Denis

    2014-12-01

    Congenital nephrogenic diabetes insipidus is a rare hereditary disease with mainly an X-linked inheritance (90% of the cases) but there are also autosomal recessive and dominant forms. Congenital nephrogenic diabetes insipidus is characterized by a resistance of the renal collecting duct to the action of the arginine vasopressin hormone responsible for the inability of the kidney to concentrate urine. The X-linked form is due to inactivating mutations of the vasopressin 2 receptor gene leading to a loss of function of the mutated receptors. Affected males are often symptomatic in the neonatal period with a lack of weight gain, dehydration and hypernatremia but mild phenotypes may also occur. Females carrying the mutation may be asymptomatic but, sometimes, severe polyuria is found due to the random X chromosome inactivation. The autosomal recessive and dominant forms, occurring in both genders, are linked to mutations in the aquaporin-2 gene. The treatment remains difficult, especially in infants, and is based on a low osmotic diet with increased water intake and the use of thiazides and indomethacin. The main goal is to avoid hypernatremic episodes and maintain a good hydration state. Potentially, specific treatment, in some cases of X-linked congenital nephrogenic diabetes insipidus, with pharmacological chaperones such as non-peptide vasopressin-2 receptor antagonists will be available in the future. Conversely, the nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is linked to a constitutive activation of the V(2)-receptor due to activating mutations with clinical and biological features of inappropriate antidiuresis but with low or undetectable plasma arginine vasopressin hormone levels. Copyright © 2014 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  16. Bendamustine-Induced Nephrogenic Diabetes Insipidus in a Patient With AL Amyloidosis.

    Science.gov (United States)

    Uwumugambi, Nsabimana A; Sanchorawala, Vaishali; Shelton, Anthony C; Stern, Lauren; Gordon, Craig E

    2017-02-01

    Nephrogenic diabetes insipidus is a condition characterized by polyuria with dilute urine due to the inability of the principal cells of the renal collecting ducts to respond to antidiuretic hormone and concentrate urine. Nephrogenic diabetes insipidus can be drug induced, and several chemotherapeutic agents have been reported to cause it. Bendamustine is a traditional chemotherapeutic agent being studied for treatment for relapsed systemic AL amyloidosis. We report a case of a 59-year-old man with AL amyloidosis who developed partial nephrogenic diabetes insipidus after receiving bendamustine for treatment of AL amyloidosis. The nephrogenic diabetes insipidus responded well to sodium restriction, hydrochlorothiazide, and desmopressin treatment, allowing the patient to receive subsequent bendamustine cycles without polyuria. Nephrogenic diabetes insipidus resolved shortly after completion of bendamustine therapy. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  17. Cryptogenic fibrosing alveolitis and lung cancer: the BTS study.

    Science.gov (United States)

    Harris, J M; Johnston, I D A; Rudd, R; Taylor, A J Newman; Cullinan, P

    2010-01-01

    The risk of lung cancer is often reported to be increased for patients with cryptogenic fibrosing alveolitis (CFA). Vital status was sought for all 588 members of the British Thoracic Society (BTS) cryptogenic fibrosing alveolitis (CFA) study 11 years after entry to the cohort. Observed deaths due to lung cancer were compared with expected deaths using age-, sex- and period-adjusted national rates. The roles of reported asbestos exposure and smoking were also investigated. 488 cohort members (83%) had died; 46 (9%) were certified to lung cancer (ICD9 162). The standardised mortality ratio (SMR) was 7.4 (95% CI 5.4 to 9.9). Stratified analysis showed increased lung cancer mortality among younger subjects, men and ever smokers. Using an independent expert panel, 25 cohort members (4%) were considered to have at least moderate exposure to asbestos; the risk of lung cancer was increased for these subjects (SMR 13.1 (95% CI 3.6 to 33.6)) vs 7.2 (95% CI 5.2 to 9.7) for those with less or no asbestos exposure). Ever smoking was reported by 448 (73%) of the cohort and was considerably higher in men than in women (92% vs 49%; p<0.001). Most persons who died from lung cancer were male (87%), and all but two (96%) had ever smoked. Ever smokers presented at a younger age (mean 67 vs 70 years; p<0.001) and with less breathlessness (12% smokers reported no breathlessness vs 5% never smokers; p = 0.02). These findings confirm an association between CFA and lung cancer although this relationship may not be causal. The high rate of smoking and evidence that smokers present for medical attention earlier than non-smokers suggest that smoking could be confounding this association.

  18. Nephrogenic rests mimicking Wilms' tumor on CT

    Energy Technology Data Exchange (ETDEWEB)

    Subhas, Naveen; Siegelman, Stanley S. [Russell H. Morgan Department of Radiology, The Johns Hopkins Hospital and School of Medicine, 600 N. Wolfe St., 21287, Baltimore, MD (United States); Argani, Pedram [Department of Pathology, Johns Hopkins Hospital and School of Medicine, 21287, Baltimore, MD (United States); Gearhart, John P. [Department of Pediatric Urology, Brady Urologic Institute, The Johns Hopkins Hospital and School of Medicine, 21287, Baltimore, MD (United States)

    2004-02-01

    Nephrogenic rests (NR) are persistent benign remnants of embryonic renal tissue. A small percentage of these may develop into Wilms' tumor (WT). Radiologic imaging is relied upon to differentiate between these entities, with the hallmark of malignant transformation being growth on serial imaging studies. There is, however, considerable overlap in their imaging characteristics. The authors present a case of two biopsy-proven NR in a 2-year-old girl with sporadic aniridia that were indistinguishable from WT on initial radiologic studies. One of the NR grew on serial imaging studies mimicking a WT, but after resection was confirmed to be a benign hyperplastic NR on pathologic examination. (orig.)

  19. Nephrogenic Diabetes Insipidus: A Rare Presentation in Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    Mehdi Dehghani

    2012-04-01

    Full Text Available We report a case of multiple myeloma that presented with anorexia, fatigue, high erythrocyte sedimentation rate, bone marrow plasmacytosis of more than 30%, polyuria,and low urine specific gravity. This unusual presentation was diagnosed as nephrogenic diabetes insipidus secondary to a proximal tubular dysfunction. The tubular functional disturbance appeared to be related to thepresence of lambda-type light chains. The patient was treated withdesmopressine without response. After one month of treatment with thalidomide and dexamethasone for myeloma there was a dramatic response with decreased urine output.

  20. Aldose Reductase-Deficient Mice Develop Nephrogenic Diabetes Insipidus

    Science.gov (United States)

    Ho, Horace T. B.; Chung, Sookja K.; Law, Janice W. S.; Ko, Ben C. B.; Tam, Sidney C. F.; Brooks, Heddwen L.; Knepper, Mark A.; Chung, Stephen S. M.

    2000-01-01

    Aldose reductase (ALR2) is thought to be involved in the pathogenesis of various diseases associated with diabetes mellitus, such as cataract, retinopathy, neuropathy, and nephropathy. However, its physiological functions are not well understood. We developed mice deficient in this enzyme and found that they had no apparent developmental or reproductive abnormality except that they drank and urinated significantly more than their wild-type littermates. These ALR2-deficient mice exhibited a partially defective urine-concentrating ability, having a phenotype resembling that of nephrogenic diabetes insipidus. PMID:10913167

  1. Nephrogenic systemic fibrosis symptoms alleviated by renal transplantation

    DEFF Research Database (Denmark)

    Hansen, Jesper Melchior

    2011-01-01

    are limited. Anecdotal reports have shown partial or complete resolution of NSF following successful renal transplantation early in the course of NSF. In this report, we describe alleviation of NSF symptoms in two women following successful renal transplantation more than 3 years after onset of NSF.......Nephrogenic systemic fibrosis (NSF) is a rare, serious, and life-threatening disease of patients with severe renal impairment. Gadolinium-containing contrast agents have been shown to be the crucial trigger. There is no proven medical cure for the disease, and symptomatic treatment options...

  2. Aerobic fitness in patients with fibrositis. A controlled study of respiratory gas exchange and 133-xenon clearance from exercising muscle

    International Nuclear Information System (INIS)

    Bennett, R.M.; Clark, S.R.; Goldberg, L.; Nelson, D.; Bonafede, R.P.; Porter, J.; Specht, D.

    1989-01-01

    Aerobic fitness was evaluated in 25 women with fibrositis, by having them exercise to volitional exhaustion on an electronically braked cycle ergometer. Compared with published standards, greater than 80% of the fibrositis patients were not physically fit, as assessed by maximal oxygen uptake. Compared with matched sedentary controls, fibrositis patients accurately perceived their level of exertion in relation to oxygen consumption and attained a similar level of lactic acidosis, as assessed by their respiratory quotient and ventilatory threshold. Exercising muscle blood flow was estimated by 133-xenon clearance in a subgroup of 16 fibrositis patients and compared with that in 16 matched sedentary controls; the fibrositis patients exhibited reduced 133-xenon clearance. These results indicate a need to include aerobic fitness as a matched variable in future controlled studies of fibrositis and suggest that the detraining phenomenon may be of relevance to the etiopathogenesis of the disease

  3. [Congenital nephrogenic diabetes insipidus: about a case report].

    Science.gov (United States)

    Esselmani, Hicham; Yassine, Asmaa; Bouabdellah, Mounya; Benchekroun, Laila; Handor, Najat; Elalami, Sanae; Chabraoui, Layachi

    2013-01-01

    Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.

  4. PET scanning of macrophages in patients with scleroderma fibrosing alveolitis

    Energy Technology Data Exchange (ETDEWEB)

    Branley, Howard M. [Imperial College London, Hammersmith Campus, London (United Kingdom)], E-mail: Howard.Branley@whittington.nhs.uk; Bois, Roland M. du; Wells, Athol U. [Royal Brompton Hospital, London (United Kingdom); Jones, Hazel A. [Imperial College London, Hammersmith Campus, London (United Kingdom)

    2008-11-15

    Rationale: Assessment of disease activity in fibrosing alveolitis due to systemic sclerosis (FASSc) is difficult without using invasive investigation. A repeatable noninvasive method of assessing disease at a cellular level such as with positron emission tomography (PET) could be of great value in evaluating high-resolution changes in the pathological process. Objectives: To investigate whether the level of inflammatory cell traffic and lung density in FASSc, imaged in vivo by PET, is different to controls and whether they are associated with changes in pulmonary function indices. Methods: We used PET to measure lung density and tissue uptake of {sup 11}C-[R]-PK11195, a ligand that binds to receptors found in abundance in macrophages. Fifteen patients with FASSc were compared to seven controls. Results: A trend of reduced uptake of {sup 11}C-[R]-PK11195 was observed in FASSc patients (P=.09) and correlated inversely with lung density (r=-.62; P<.05), which was significantly elevated in FASSc [0.35{+-}0.02 vs. 0.23{+-}0.02 g/cc (mean{+-}S.E.M.); P<.005]. Conclusion: These results demonstrate that inflammatory cell traffic and lung density can be imaged in vivo in FASSc using PET, and that this approach might be of potential value in understanding, in situ, components of pathogenesis that may have value for prognosis.

  5. PET scanning of macrophages in patients with scleroderma fibrosing alveolitis

    International Nuclear Information System (INIS)

    Branley, Howard M.; Bois, Roland M. du; Wells, Athol U.; Jones, Hazel A.

    2008-01-01

    Rationale: Assessment of disease activity in fibrosing alveolitis due to systemic sclerosis (FASSc) is difficult without using invasive investigation. A repeatable noninvasive method of assessing disease at a cellular level such as with positron emission tomography (PET) could be of great value in evaluating high-resolution changes in the pathological process. Objectives: To investigate whether the level of inflammatory cell traffic and lung density in FASSc, imaged in vivo by PET, is different to controls and whether they are associated with changes in pulmonary function indices. Methods: We used PET to measure lung density and tissue uptake of 11 C-[R]-PK11195, a ligand that binds to receptors found in abundance in macrophages. Fifteen patients with FASSc were compared to seven controls. Results: A trend of reduced uptake of 11 C-[R]-PK11195 was observed in FASSc patients (P=.09) and correlated inversely with lung density (r=-.62; P<.05), which was significantly elevated in FASSc [0.35±0.02 vs. 0.23±0.02 g/cc (mean±S.E.M.); P<.005]. Conclusion: These results demonstrate that inflammatory cell traffic and lung density can be imaged in vivo in FASSc using PET, and that this approach might be of potential value in understanding, in situ, components of pathogenesis that may have value for prognosis

  6. An epidemic outbreak of nephrogenic systemic fibrosis in a Danish hospital

    International Nuclear Information System (INIS)

    Marckmann, Peter

    2008-01-01

    The nephrological department of Copenhagen University Hospital Herlev experienced an epidemic accumulation of patients developing nephrogenic systemic fibrosis in the period 2002-2006. Systematic studies of these patients revealed that they all had a gadodiamide-enhanced magnetic resonance examination prior to their symptoms, and that they all had severe renal insufficiency (chronic kidney disease stage 5) at the time of their exposure to gadodiamide. Besides exposure to gadodiamide, our analyses indicated that increasing cumulative gadodiamide exposure (i.e. repeated exposures), and higher serum concentrations of ionized calcium and phosphate were cofactors that raised the risk of developing nephrogenic systemic fibrosis. Higher cumulative gadodiamide exposure, higher prescribed erythropoietin dosage at exposure, and being hemodialysis patient were three factors associated with nephrogenic systemic fibrosis in its most severe form. Retrospective reviews of patients records and patient interviews revealed the large variability in symptoms and clinical course of nephrogenic systemic fibrosis, but also highlighted that the typical initial symptoms were symmetric swelling, discoloration and pain of lower legs, whereas the typical late symptoms of severely affected patients were skin thickening, stiffness, contractures, and debilitating disabilities. In conclusion, nephrogenic systemic fibrosis is a serious iatrogenic disease of patients with renal insufficiency caused by some Gd-containing contrast agents, in particular gadodiamide. Unfortunately, there is no proven curative treatment. It is therefore essential that future cases of nephrogenic systemic fibrosis are prevented

  7. Recurrent nephrogenic adenoma in a 10-year-old boy with prune belly syndrome : a case presentation.

    Science.gov (United States)

    Vemulakonda, Vijaya M; Kopp, Ryan P; Sorensen, Mathew D; Grady, Richard W

    2008-05-01

    Nephrogenic adenoma is a rare benign lesion of the urinary tract that is associated with a history of irritation or injury of the urothelium. Predisposing factors include infection, calculi, surgery, trauma, and renal transplantation. Nephrogenic adenoma commonly presents with lower urinary tract symptoms or hematuria. We present the case of recurrent nephrogenic adenoma in a 10-year-old boy with a history of prune belly syndrome and discuss management of this disease in the pediatric population. To our knowledge this represents the first reported case of recurrent nephrogenic adenoma associated with prune belly syndrome.

  8. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Gianluca Vergine

    2018-01-01

    Full Text Available Bartter syndrome (BS type 1 (OMIM #601678 is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  9. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Vergine, Gianluca; Fabbri, Elena; Pedini, Annalisa; Tedeschi, Silvana; Borsa, Niccolò

    2018-01-01

    Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  10. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.

    Science.gov (United States)

    Milano, Serena; Carmosino, Monica; Gerbino, Andrea; Svelto, Maria; Procino, Giuseppe

    2017-11-10

    Under physiological conditions, excessive loss of water through the urine is prevented by the release of the antidiuretic hormone arginine-vasopressin (AVP) from the posterior pituitary. In the kidney, AVP elicits a number of cellular responses, which converge on increasing the osmotic reabsorption of water in the collecting duct. One of the key events triggered by the binding of AVP to its type-2 receptor (AVPR2) is the exocytosis of the water channel aquaporin 2 (AQP2) at the apical membrane the principal cells of the collecting duct. Mutations of either AVPR2 or AQP2 result in a genetic disease known as nephrogenic diabetes insipidus, which is characterized by the lack of responsiveness of the collecting duct to the antidiuretic action of AVP. The affected subject, being incapable of concentrating the urine, presents marked polyuria and compensatory polydipsia and is constantly at risk of severe dehydration. The molecular bases of the disease are fully uncovered, as well as the genetic or clinical tests for a prompt diagnosis of the disease in newborns. A real cure for nephrogenic diabetes insipidus (NDI) is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression.

  11. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update

    Directory of Open Access Journals (Sweden)

    Serena Milano

    2017-11-01

    Full Text Available Under physiological conditions, excessive loss of water through the urine is prevented by the release of the antidiuretic hormone arginine-vasopressin (AVP from the posterior pituitary. In the kidney, AVP elicits a number of cellular responses, which converge on increasing the osmotic reabsorption of water in the collecting duct. One of the key events triggered by the binding of AVP to its type-2 receptor (AVPR2 is the exocytosis of the water channel aquaporin 2 (AQP2 at the apical membrane the principal cells of the collecting duct. Mutations of either AVPR2 or AQP2 result in a genetic disease known as nephrogenic diabetes insipidus, which is characterized by the lack of responsiveness of the collecting duct to the antidiuretic action of AVP. The affected subject, being incapable of concentrating the urine, presents marked polyuria and compensatory polydipsia and is constantly at risk of severe dehydration. The molecular bases of the disease are fully uncovered, as well as the genetic or clinical tests for a prompt diagnosis of the disease in newborns. A real cure for nephrogenic diabetes insipidus (NDI is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression.

  12. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update

    Science.gov (United States)

    Milano, Serena; Carmosino, Monica; Gerbino, Andrea; Svelto, Maria

    2017-01-01

    Under physiological conditions, excessive loss of water through the urine is prevented by the release of the antidiuretic hormone arginine-vasopressin (AVP) from the posterior pituitary. In the kidney, AVP elicits a number of cellular responses, which converge on increasing the osmotic reabsorption of water in the collecting duct. One of the key events triggered by the binding of AVP to its type-2 receptor (AVPR2) is the exocytosis of the water channel aquaporin 2 (AQP2) at the apical membrane the principal cells of the collecting duct. Mutations of either AVPR2 or AQP2 result in a genetic disease known as nephrogenic diabetes insipidus, which is characterized by the lack of responsiveness of the collecting duct to the antidiuretic action of AVP. The affected subject, being incapable of concentrating the urine, presents marked polyuria and compensatory polydipsia and is constantly at risk of severe dehydration. The molecular bases of the disease are fully uncovered, as well as the genetic or clinical tests for a prompt diagnosis of the disease in newborns. A real cure for nephrogenic diabetes insipidus (NDI) is still missing, and the main symptoms of the disease are handled with s continuous supply of water, a restrictive diet, and nonspecific drugs. Unfortunately, the current therapeutic options are limited and only partially beneficial. Further investigation in vitro or using the available animal models of the disease, combined with clinical trials, will eventually lead to the identification of one or more targeted strategies that will improve or replace the current conventional therapy and grant NDI patients a better quality of life. Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression. PMID:29125546

  13. Prevalence of asymptomatic coronary disease in fibrosing idiopathic interstitial pneumonias

    International Nuclear Information System (INIS)

    Cassagnes, Lucie; Gaillard, Vianney; Monge, Emmanuel; Faivre, Jean-Baptiste; Delhaye, Cédric; Molinari, Francesco; Petyt, Grégory; Hossein-Foucher, Claude; Wallaert, Benoit; Duhamel, Alain; Remy, Jacques; Remy-Jardin, Martine

    2015-01-01

    Background: Because of growing body of interest on the association between fibrosing idiopathic interstitial pneumonias (f-IIP) and ischaemic heart disease, we initiated this prospective study to evaluate the prevalence of asymptomatic coronary artery disease (CAD) in patients with f-IIP. Methods: Forty-two patients with f-IIP underwent noninvasive screening for CAD that included (a) a chest CT examination enabling calculation of the coronary artery calcium (CAC) score, then depiction of coronary artery stenosis; and (b) stress myocardial perfusion scintigraphy (MPS). Patients with significant coronary abnormalities, defined by a CAC score >400 or coronary artery stenosis >50% at CT and/or perfusion defect >5% at MPS, were referred to the cardiologist. Coronary angiography was indicated in presence of a perfusion defect >10% at MPS or significant left main or proximal left anterior descending stenosis whatever MPS findings. Results: Combining CT and MPS, significant abnormalities were detected in 32/42 patients (76%). The cardiologist: (a) did not consider further investigation in 21 patients (CT abnormalities but no ischaemia at MPS: 12/21; false-positive findings at MPS: 3/21; poor respiratory condition: 6/21); (b) proceeded to coronary angiography in 11 patients which confirmed significant stenoses in 5 patients (5/42; 12%). In the worst-case-scenario (i.e., inclusion of 6 patients with significant coronary artery abnormalities who were not investigated due to poor respiratory condition), the prevalence of CAD reached 26% (11/42). Conclusion: In the studied population of patients with f-IIP, asymptomatic CAD ranged between 12% and 26%

  14. Measures of the inflammatory response in cryptogenic fibrosing alveolitis

    International Nuclear Information System (INIS)

    Pantin, C.F.; Valind, S.O.; Sweatman, M.; Lawrence, R.; Rhodes, C.G.; Brudin, L.; Britten, A.; Hughes, J.M.; Turner-Warwick, M.

    1988-01-01

    Cryptogenic fibrosing alveolitis (CFA) is characterized by interstitial fibrosis and parenchymal inflammation. Eleven patients with CFA (10 proved by lung biopsy) were followed over 2 yr using clinical symptoms, radiographic change, and pulmonary function tests to adjust their treatment. Lung lavage, positron camera (PET) measurements of regional extravascular lung density (Dev), pulmonary blood volume (Vb), and the metabolic rate for 18F-deoxyglucose (MRglc), clearance of 99mTc-diethylenetriaminepentacetate (99mTc-DTPA) aerosol, and lung uptake of 67Ga were measured initially and at the end of the first year to give a profile of the inflammatory response. Compared with normal subjects, there was an increased percentage of neutrophils and eosinophils in the lung lavage, increased Dev (p less than 0.002) with no significant difference in Vb, increased MRglc (p less than 0.02), 99mTc-DTPA clearance (p less than 0.002), and 67Ga uptake (p less than 0.02). The smallest increases in Dev were seen in the two patients with most destruction shown by lung biopsy. There were inverse correlations between Dev and both FVC and TLC, but a direct correlation between Vb and transfer factor. 99mTc-DTPA clearance changed concordantly with clinical status and radiographic and respiratory function changes during the first year. If glucose utilization (MRglc) remained in the normal range between the initial and first yearly assessment, the patient improved or remained stable during the second year as shown by clinical status and radiographic and respiratory function measurements. If it rose or remained high, the patient's condition deteriorated

  15. Cicatricial organising pneumonia mimicking a fibrosing interstitial pneumonia.

    Science.gov (United States)

    Churg, Andrew; Wright, Joanne L; Bilawich, AnaMaria

    2018-04-01

    Organising pneumonia (OP) is composed of loose granulation tissue plugs in distal airspaces; these disappear with steroid treatment. Recently a variant labelled 'cicatricial' OP has been described in which the granulation tissue organised to much denser fibrous tissue but still retained the usual pattern of OP. Here we report 10 patients thought to have an interstitial lung disease, and who on biopsy had a variant of cicatricial OP characterised by linear bands or small nodular masses of dense fibrous tissue that does not resemble ordinary OP. The bands/nodules were usually distributed randomly but occasionally resembled fibrotic non-specific interstitial pneumonia in local areas. Small foci of loose granulation tissue at the edge of the fibrotic bands sometimes mimicked fibroblast foci. Recognisable conventional OP was always present, but often in very small amounts. Four cases, including one patient with Ehlers-Danlos syndrome, showed formation of bone in the fibrotic bands and nodules. On computerised tomography (CT) scan of the chest some cases looked like typical OP, but some demonstrated only irregularly distributed linear opacities, sometimes with associated calcification. Follow-up imaging on six cases showed that the process either markedly improved or remained stable over time; no case had progressive disease. Cicatricial OP with this pathological pattern represents an uncommon form of OP that appears to be a generally benign process which may have persisting linear opacities on CT scan but that does not progress; however, it can be confused on biopsy and CT with a fibrosing interstitial pneumonia. © 2017 John Wiley & Sons Ltd.

  16. Prevalence of asymptomatic coronary disease in fibrosing idiopathic interstitial pneumonias

    Energy Technology Data Exchange (ETDEWEB)

    Cassagnes, Lucie; Gaillard, Vianney [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Monge, Emmanuel [Department of Pulmonology, Center of Competence for Rare Pulmonary Diseases, Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Faivre, Jean-Baptiste [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Delhaye, Cédric [Department of Cardiology, Cardiology Hospital, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Molinari, Francesco [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Petyt, Grégory; Hossein-Foucher, Claude [Department of Nuclear Medicine, Hospital Salengro, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Wallaert, Benoit [Department of Pulmonology, Center of Competence for Rare Pulmonary Diseases, Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Duhamel, Alain [Department of Medical Statistics (EA 2694), Univ Lille Nord de France, F-59000 Lille (France); Remy, Jacques [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France); Remy-Jardin, Martine, E-mail: martine.remy@chru-lille.fr [Department of Thoracic Imaging (EA 2694), Hospital Calmette, CHRU and Univ Lille 2 Nord de France, F-59000 Lille (France)

    2015-01-15

    Background: Because of growing body of interest on the association between fibrosing idiopathic interstitial pneumonias (f-IIP) and ischaemic heart disease, we initiated this prospective study to evaluate the prevalence of asymptomatic coronary artery disease (CAD) in patients with f-IIP. Methods: Forty-two patients with f-IIP underwent noninvasive screening for CAD that included (a) a chest CT examination enabling calculation of the coronary artery calcium (CAC) score, then depiction of coronary artery stenosis; and (b) stress myocardial perfusion scintigraphy (MPS). Patients with significant coronary abnormalities, defined by a CAC score >400 or coronary artery stenosis >50% at CT and/or perfusion defect >5% at MPS, were referred to the cardiologist. Coronary angiography was indicated in presence of a perfusion defect >10% at MPS or significant left main or proximal left anterior descending stenosis whatever MPS findings. Results: Combining CT and MPS, significant abnormalities were detected in 32/42 patients (76%). The cardiologist: (a) did not consider further investigation in 21 patients (CT abnormalities but no ischaemia at MPS: 12/21; false-positive findings at MPS: 3/21; poor respiratory condition: 6/21); (b) proceeded to coronary angiography in 11 patients which confirmed significant stenoses in 5 patients (5/42; 12%). In the worst-case-scenario (i.e., inclusion of 6 patients with significant coronary artery abnormalities who were not investigated due to poor respiratory condition), the prevalence of CAD reached 26% (11/42). Conclusion: In the studied population of patients with f-IIP, asymptomatic CAD ranged between 12% and 26%.

  17. Frontal fibrosing alopecia and lichen planus pigmentosus: diagnosis and therapeutic challenge.

    Science.gov (United States)

    Mulinari-Brenner, Fabiane Andrade; Guilherme, Marina Riedi; Peretti, Murilo Calvo; Werner, Betina

    2017-01-01

    Frontal fibrosing alopecia is a variant of lichen planopilaris with marginal progressive hair loss on the scalp, eyebrows and axillae. We report a case of frontal fibrosing alopecia and lichen planus pigmentosus in a postmenopausal woman, that started with alopecia on the eyebrows and then on the frontoparietal region, with periocular and cervical hyperpigmentation of difficult management. The condition was controlled with systemic corticosteroid therapy and finasteride. Lichen planus pigmentosus is an uncommon variant of lichen planus frequently associated with frontal fibrosing alopecia in darker phototipes. It should be considered in patients affected by scarring alopecia with a pattern of lichen planopilaris and areas of skin hyperpigmentation revealing perifollicular hyperpigmentation refractory to multiple treatments. This case illustrates diagnostic and therapeutic challenge in face of scarring alopecia and perifollicular hyperpigmentation.

  18. Controvérsias na fibrose cística: do pediatra ao especialista

    Directory of Open Access Journals (Sweden)

    Ribeiro Jose Dirceu

    2002-01-01

    Full Text Available Objetivos: nos últimos 70 anos, a fibrose cística emergiu da obscuridade para o reconhecimento como a mais importante doença hereditária, potencialmente letal, incidente na raça branca. Embora seja uma doença genética, na qual o defeito básico acomete células de vários órgãos, nem todos os indivíduos expressam respostas clínicas na mesma intensidade. Várias manifestações clínicas, principalmente pulmonares e digestivas, podem ocorrer durante a vida dos pacientes fibrocísticos. O objetivo deste artigo é propiciar ao pediatra geral uma visão atualizada dos principais assuntos referentes à fibrose cística. Fontes dos dados: revisão sistemática e atualizada em fonte de dados oficial (Medline. Síntese dos dados: foram revisados 79 artigos sobre fibrose cística, de periódicos internacionais, colocando, de modo atual e crítico, os principais eventos relacionados com a incidência, a fisiopatogenia, as manifestações clínicas, o diagnóstico e o tratamento da fibrose cística. Conclusões: apesar de não existir cura para essa doença, muitos conhecimentos novos sobre a etiologia e a fisiopatologia, adquiridos nas duas últimas décadas, propiciaram uma nova abordagem para o tratamento da fibrose cística. A compreensão dos mecanismos básicos da doença pulmonar, bem como das manifestações digestivas na fibrose cística, decorrente dos conhecimentos de pesquisas recentes, tem sido a chave para o aumento da sobrevida e a melhora da qualidade de vida dos pacientes.

  19. Idiopathic fibrosing pancreatitis: a rare cause of chronic obstructive jaundice in childhood

    International Nuclear Information System (INIS)

    Park, Hye Seong; Kim, Hyun Sook; Kim, Hack Hee; Kim, Ok Hwa; Kim, Choon Yul; Bahk, Yong Whee

    1992-01-01

    We report a 14-months-old infant who had obstructive jaundice caused by idiopathic fibrosing pancreatitis. Ultrasonography and abdominal computed tomography showed dilatation of the intrahepatic ducts, common bile duct, and the pancreatic duct. Diffuse swelling of the pancreas was also noted on CT. At laparotomy, the head portion of the pancreas revealed a stony hard consistency, and proliferation of fibrotic tissue was confirmed pathologically. Idiopathic fibrosing pancreatitis is a very rare disease entity in childhood, but should be considered in the differential diagnosis of obstructive jaundice in children who demonstrate bile duct and pancreatic duct dilatation and/or diffuse pancreas swelling

  20. Successful Treatment of Fibrosing Organising Pneumonia Causing Respiratory Failure with Mycophenolic Acid.

    Science.gov (United States)

    Paul, Christina; Lin-Shaw, Ammy; Joseph, Mariamma; Kwan, Keith; Sergiacomi, Gianluigi; Mura, Marco

    2016-01-01

    Organising pneumonia (OP) is usually promptly responsive to corticosteroid treatment. We describe a series of 3 cases of severe, progressive, biopsy-proven fibrosing OP causing respiratory failure. All cases presented with peribronchial and subpleural consolidations, had a fibro-inflammatory infiltrative component in the alveolar septa, and only had a partial and unsatisfactory response to corticosteroids. However, they responded to mycophenolic acid (MPA) treatment with resolution of respiratory failure as well as clinical and functional improvement. MPA as an additional treatment option for aggressive forms of fibrosing OP and interstitial lung disease needs to be further explored. © 2016 S. Karger AG, Basel.

  1. Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report.

    Science.gov (United States)

    Macau, Ricardo A; da Silva, Tiago Nunes; Silva, Joana Rego; Ferreira, Ana Gonçalves; Bravo, Pedro

    2018-01-01

    Lithium-induced nephrogenic diabetes insipidus (Li-NDI) is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series). We describe the case of a 63-year-old woman with bipolar disorder treated with lithium and no previous history of diabetes insipidus. She was hospitalized due to a bowel obstruction and developed severe dehydration after surgery when she was water deprived. After desmopressin administration and unsuccessful thiazide and amiloride treatment, acetazolamide was administrated to control polyuria and hydroelectrolytic disorders without significant side effects. To our knowledge, this is the third publication on acetazolamide use in Li-NDI patients. Treatment of lithium-induced nephrogenic diabetes insipidus might be challenging.Vasopressin, amiloride and thiazide diuretics have been used in lithium-induced nephrogenic diabetes insipidus treatment.Acetazolamide might be an option to treat lithium-induced nephrogenic diabetes insipidus patients who fail to respond to standard treatment.The use of acetazolamide in lithium-induced nephrogenic diabetes insipidus must be monitored, including its effects on glomerular filtration rate.

  2. Fibrose quística em adultos

    Directory of Open Access Journals (Sweden)

    C. Damas

    2007-05-01

    Full Text Available Resumo: Os autores efectuaram uma revisão de doentes adultos com fibrose quística (FQ, seguidos na consulta de Pneumologia no período de 1994-2004 (n=8: cinco mulheres e três homens, com idades compreendidas entre 20 e 34 anos (mediana=27 anos, cuja idade de diagnóstico variou entre os 18 meses e os 31 anos. O diagnóstico foi obtido por prova de suor (positiva em seis doentes e estudo genético (homozigotia para a mutação ΔF508 em quatro doentes. O atingimento respiratório traduziu-se por sinusite e bronquiectasias, acompanhando-se o envolvimento pulmonar por alterações funcionais e também gaso-métricas na maioria dos doentes, ainda que de gravidade variável e não relacionada com a idade de diagnóstico. Verificou-se colonização da árvore brônquica em cinco doentes: Pseudomonas aeruginosa em quatro e Staphilococcus aureus em quatro (verificando-se coloni-zação concomitante por estes agentes em três. As principais causas de exacerbação foram infecções res-piratórias e hemoptises. Quanto ao atingimento não respiratório, quatro doentes apresentavam envolvimento digestivo (com cirrose hepática num caso, um insuficiência renal em hemo-diálise, e em apenas um foi efectuado espermograma para documentação de infertilidade. Quatro doentes tinham osteopenia documentada por densitometria óssea. As medidas terapêuticas mais utilizadas foram a cine-siterapia, os broncodilatadores, a alfa-dornase, muco-líticos, suplementos vitamínicos e enzimáticos, antibio-terapia e oxigenoterapia. Relativamente à evolução, uma doente abandonou a consulta, uma doente faleceu, um doente aguardava transplante pulmonar e os restantes mantiveram as suas características clínicas habituais. Neste grupo, a gravidade da doença pulmonar não se relacionou com o diagnóstico mais tardio, o que se pode dever à diversidade de apresenta

  3. V2R mutations and nephrogenic diabetes insipidus.

    Science.gov (United States)

    Bichet, Daniel G

    2009-01-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria, with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Nephrogenic failure to concentrate urine maximally may be due to a defect in vasopressin-induced water permeability of the distal tubules and collecting ducts, to insufficient buildup of the corticopapillary interstitial osmotic gradient, or to a combination of these two factors. Thus, the broadest definition of the term NDI embraces any antidiuretic hormone-resistant urinary-concentrating defect, including medullary disease with low interstitial osmolality, renal failure, and osmotic diuresis. About 90% of patients with congenital NDI are males with X-linked recessive NDI (OMIM 304800)(1) and have mutations in the AVP receptor 2 (AVPR2) gene that codes for the vasopressin V(2) receptor; the gene is located in chromosome region Xq28. In about 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance (OMIM 222000 and 125800)(1). Mutations have been identified in the aquaporin-2 gene (AQP2, OMIM 107777)(1), which is located in chromosome region 12q13 and codes for the vasopressin-sensitive water channel. NDI is clinically distinguishable from neurohypophyseal diabetes insipidus (OMIM 125700(1); also referred to as central or neurogenic diabetes insipidus) by a lack of response to exogenous AVP and by plasma levels of AVP that rise normally with increase in plasma osmolality. Hereditary neurohypophyseal diabetes insipidus is secondary to mutations in the gene encoding AVP (OMIM 192340)(1). Neurohypophyseal diabetes insipidus is also a component of autosomal recessive Wolfram syndrome 1 or DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) (OMIM

  4. Incidence and prevalence of cryptogenic fibrosing alveolitis in a Norwegian community

    DEFF Research Database (Denmark)

    von Plessen, C; Grinde, O; Gulsvik, A

    2003-01-01

    This study assesses the incidence and prevalence of cryptogenic fibrosing alveolitis (CFA) in a well-defined and stable Norwegian population of 250,000 inhabitants during a period of 15 years. We conducted a file survey of all patients (n = 376) aged 16 years or older with a clinician's diagnosis...

  5. Dispneia expiratória restritiva em um gato com fibrose pulmonar idiopática: relato de caso

    OpenAIRE

    Pereira, C.O.; Costa, F.V.A.; Gomes, D.C.; Kasper, P.N.; Vieira, A.B.; Driemeier, D.

    2017-01-01

    RESUMO As doenças pulmonares intersticiais constituem um grupo de doenças difusas do parênquima pulmonar, no qual a fibrose pulmonar intersticial está incluída. Histologicamente, esta se caracteriza por hiperplasia de pneumócitos tipo II, hiperplasia ou hipertrofia de músculo liso e fibrose. Embora a patogenia da fibrose pulmonar intersticial não esteja bem elucidada, devido às semelhanças microscópicas encontradas nos pneumócitos tipo II em felinos e na forma familiar da doença em humanos, a...

  6. Case-control study of gadodiamide-related nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Marckmann, Peter; Skov, Lone; Rossen, Kristian

    2007-01-01

    exposed to gadodiamide develop nephrogenic systemic fibrosis. METHODS: We conducted a case-control study of 19 histologically verified cases and 19 sex- and age-matched controls. All subjects had chronic renal failure when exposed to gadodiamide. Clinical, biochemical and pharmacological data were.......02). CONCLUSIONS: Increasing cumulative gadodiamide exposure, high-dose epoietin-beta treatment, and higher serum concentrations of ionized calcium and phosphate increase the risk of gadodiamide-related nephrogenic systemic fibrosis in renal failure patients. Severe cases seem to develop primarily among patients......BACKGROUND: Nephrogenic systemic fibrosis may be caused by gadolinium (Gd)-containing magnetic resonance imaging contrast agents. Most reported cases were associated with one particular agent, gadodiamide. Yet, unidentified cofactors might explain why only a minority of renal failure patients...

  7. A case of primary aldosteronism combined with acquired nephrogenic diabetes insipidus

    Directory of Open Access Journals (Sweden)

    Kitae Kim

    2014-12-01

    Full Text Available Aldosterone-producing adrenal adenoma can induce various clinical manifestations as a result of chronic exposure to aldosterone. We report a rare case of a 37-year-old man who complained of general weakness and polyuria. He was diagnosed with aldosterone-producing adrenal adenoma and nephrogenic diabetes insipidus. Aldosterone enhances the secretion of potassium in the collecting duct, which can lead to hypokalemia. By contrast, nephrogenic diabetes insipidus, which manifests as polyuria and polydipsia, can occur in several clinical conditions such as acquired tubular disease and those attributed to toxins and congenital causes. Among them, hypokalemia can also damage tubular structures in response to vasopressin. The patient’s urine output was >3 L/d and was diluted. Owing to the ineffectiveness of vasopressin, we eventually made a diagnosis of nephrogenic diabetes insipidus. Laparoscopic adrenalectomy and intraoperative kidney biopsy were subsequently performed. The pathologic finding of kidney biopsy revealed a decrease in aquaporin-2 on immunohistochemical stain.

  8. Nephrogenic systemic fibrosis: Review of 408 biopsy-confirmed cases

    Directory of Open Access Journals (Sweden)

    Zhitong Zou

    2011-01-01

    Full Text Available Nephrogenic systemic fibrosis (NSF has now been virtually eliminated by the discovery of its association with gadolinium-based contrast agents (GBCAs and the consequent reduced use of GBCA-enhanced magnetic resonance imaging (MRI in severe renal failure patients. This review of 408 biopsy-confirmed cases shows how to minimize NSF risk when performing GBCA-enhanced MRI or magnetic resonance angiography. The absence of any NSF cases in patients less than 8 years old or greater than 87 years old suggests that infants and elderly patients are already protected. Limiting GBCA dose to a maximum of 0.1 mMol/kg, dialyzing dialysis patients quickly following GBCA administration, delaying administration of GBCA in acute renal failure until after renal function returns or dialysis is initiated, and avoiding nonionic linear GBCA in renal failure patients, especially when there are pro-inflammatory conditions, appear to have reduced NSF risk to the point where safe GBCA-enhanced MRI is possible in most patients.

  9. Congenital nephrogenic diabetes insipidus: the current state of affairs.

    Science.gov (United States)

    Wesche, Daniel; Deen, Peter M T; Knoers, Nine V A M

    2012-12-01

    The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia or hypernatremia, and regulates water reabsorption in the renal collecting duct principal cells. Binding of AVP to the arginine vasopressin receptor type 2 (AVPR2) in the basolateral membrane leads to translocation of aquaporin 2 (AQP2) water channels to the apical membrane of the collecting duct principal cells, inducing water permeability of the membrane. This results in water reabsorption from the pro-urine into the medullary interstitium following an osmotic gradient. Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. This review focuses on the current knowledge regarding the cell biological aspects of congenital X-linked, autosomal-recessive and autosomal-dominant NDI while specifically addressing the latest developments in the field. Based on deepened mechanistic understanding, new therapeutic strategies are currently being explored, which we also discuss here.

  10. Hyperosmolar nonketotic coma precipitated by lithium-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Azam, H.; Newton, R. W.; Morris, A. D.; Thompson, C. J.

    1998-01-01

    A 45-year-old man, with a 10-year history of manic depression treated with lithium, was admitted with hyperosmolar, nonketotic coma. He gave a five-year history of polyuria and polydipsia, during which time urinalysis had been negative for glucose. After recovery from hyperglycaemia, he remained polyuric despite normal blood glucose concentrations; water deprivation testing indicated nephrogenic diabetes insipidus, likely to be lithium-induced. We hypothesize that when this man developed type 2 diabetes, chronic polyuria due to nephrogenic diabetes insipidus was sufficient to precipitate hyperosmolar dehydration. PMID:9538487

  11. Failure to wean caused by cryptogenic fibrosing pleuritis and bilateral lung trapping: case report Falência do desmame em paciente com fibrose pleural idiopática e trapping pulmonar bilateral: relato de caso

    Directory of Open Access Journals (Sweden)

    Elsemiek Verweel

    2007-12-01

    Full Text Available BACKGROUND AND OBJECTIVES: Cryptogenic fibrosing pleuritis is an extremely rare disease, which can affect both lungs from a very young age. The most common finding is severe lung restriction resulting in both hypoxemic and ventilatory failure. CASE REPORT: Male patient, 26 year old with acute deterioration of chronic respiratory failure. Following admission prolonged mechanical ventilation was necessary. An atypical clinical presentation made the diagnosis difficult, but eventually cryptogenic fibrosing pleuritis and lung fibrosis were established. CONCLUSIONS: The prognostic outcome of patients with the final diagnosis of cryptogenic fibrosing pleuritis is extremely poor, especially in an advanced phase of this disease. We recommend early treatment with corticosteroids or surgical pleural decortication.JUSTIFICATIVA E OBJETIVOS: Fibrose pleural idiopática é uma doença rara e pode afetar ambos pulmões já desde uma idade precoce. O achado mais comum na fibrose pleural idiopática é uma restrição pulmonar grave que pode levar a um quadro de falência respiratória e hipoxemia. RELATO DO CASO: Paciente do sexo masculino, 26 anos, internado com reagudização de insuficiência respiratória crônica e submetido à ventilação mecânica prolongada. Após intensa investigação e uma apresentação clínica atípica, foi estabelecido o diagnóstico de fibrose pleural idiopática associado à fibrose pulmonar. CONCLUSÕES: O prognóstico de pacientes com fibrose pleural idiopática é extremamente ruim, particularmente em fase avançada da doença. Recomenda-se o tratamento precoce com corticosteróides ou decorticação pleural cirúrgica.

  12. Relação entre retinopatia diabética e dermopatia diabética em pacientes portadores de diabetes mellitus tipo 2 Relation between diabetic retinopathy and diabetic dermopathy in type 2 diabetes mellitus patients

    Directory of Open Access Journals (Sweden)

    Hugo Roberto Kurtz Lisboa

    2008-12-01

    Full Text Available OBJETIVOS: Dermopatia diabética é o marcador cutâneo mais comum de diabetes mellitus. Embora, a dermopatia e a retinopatia diabéticas sejam consideradas manifestações de microangiopatia diabética, poucos estudos foram publicados a respeito de uma possível associação. Este estudo pretendeu investigar a associação de retinopatia e dermopatia diabéticas e determinar a prevalência e os fatores de risco associados com retinopatia diabética em pacientes diabéticos do tipo 2 do Ambulatório de Diabetes da Faculdade de Medicina da Universidade de Passo Fundo no Hospital de Ensino São Vicente de Paulo. MÉTODOS: Estudo transversal de 90 pacientes diabéticos tipo 2, atendidos sucessivamente em um Ambulatório de Diabetes nos quais foi realizado exame físico dermatológico e oftalmológico. RESULTADOS: A prevalência de dermopatia diabética foi de 16,6% (n = 15 e a de retinopatia diabética foi de 34,4% (n = 31. Destes, 67,8% (n = 21 consistiam em retinopatia não-proliferativa e 32,2% (n = 10 em retinopatia proliferativa. Observou-se que a duração da doença maior do que 10 anos (p = 0,001 e idade maior que 50 anos (p = 0,014 estavam associadas à retinopatia. Não se encontrou associação entre hemoglobina glicada (p = 0,5 e glicemia de jejum (p = 0,8 com retinopatia diabética. A freqüência de retinopatia diabética em pacientes com dermopatia diabética não foi maior do que nos pacientes sem dermopatia (7,7%, 7 casos, p = 0,586. Não houve associação, estatisticamente significativa, entre retinopatia e dermopatia diabéticas. CONCLUSÃO: Não se encontrou associação entre dermopatia e retinopatia diabéticas entre estes indivíduos com diabetes mellitus do tipo 2. A presença de retinopatia diabética estava associada à duração da doença e à idade avançada dos pacientes.PURPOSE: Diabetic dermopathy is the most frequent cutaneous marker of diabetes mellitus. Although diabetic dermopathy and diabetic retinopathy are

  13. Reading First Coordinates from the Nephrogenic Zone in Human Fetal Kidney.

    Science.gov (United States)

    Minuth, Will W

    2018-01-01

    While substantial information is available on organ anlage and the primary formation of nephrons, molecular mechanisms acting during the late development of the human kidney have received an astonishing lack of attention. In healthy newborn babies, nephrogenesis takes place unnoticed until birth. Upon delivery, morphogenetic activity in the nephrogenic zone decreases, and the stem cell niches aligned beyond the organ capsule vanish by an unknown signal. However, this signal also plays a key role in preterm and low birth weight babies. Although they are born in a phase of active nephrogenesis, pathological findings illustrate that they evolve to a high incidence oligonephropathy and prematurity of renal parenchyma. Different extra- and intrauterine influences seem to be responsible, but independent from chemical nature, all of them culminate in the nephrogenic zone. One assumes that the marred development is caused either by an overshoot of metabolites, misleading signaling of morphogens, unbalanced synthesis of extracellular matrix or restricted contact between mesenchymal and epithelial stem cells. Even more surprising is that there is only a few vague morphological information of the nephrogenic zone in the human fetal kidney available and ultrastructural data is severely lacking. On this account, the first coordinates were determined by optical microscopy and morphometry. Without claiming to be complete, generated results made it possible to create schematic illustrations true to scale for orientation. It will help graduating students, young pediatricians, pathologists, and scientists working in the field of biomedicine to interpret professionally the nephrogenic zone and contained niches. © 2017 S. Karger AG, Basel.

  14. Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Kamsteeg, E.J.; Bichet, D.G.; Konings, I.B.M.; Nivet, H.; Lonergan, M.; Arthus, M.F.; Os, C.H. van; Deen, P.M.T.

    2003-01-01

    Vasopressin regulates body water conservation by redistributing aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical surface of renal collecting ducts, resulting in water reabsorption from urine. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease

  15. Amiloride blocks lithium entry through the sodium channel thereby attenuating the resultant nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Kortenoeven, M.L.A.; Li, Y.; Shaw, S.M.; Gaeggeler, H.P.; Rossier, B.C.; Wetzels, J.F.M.; Deen, P.M.T.

    2009-01-01

    Lithium therapy frequently induces nephrogenic diabetes insipidus; amiloride appears to prevent its occurrence in some clinical cases. Amiloride blocks the epithelial sodium channel (ENaC) located in the apical membrane of principal cells; hence one possibility is that ENaC is the main entry site

  16. Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Soylu, A.; Kasap, B.; Ogun, N.; Ozturk, Y.; Turkmen, M.; Hoefsloot, L.H.; Kavukcu, S.

    2005-01-01

    A 17-month-old boy presented with failure to thrive, polyuria, and vomiting. He had been diagnosed clinically with nephrogenic diabetes insipidus and treated by amiloride and hydrochlorothiazide combination without a satisfactory outcome at another center since 1 year of age. The diagnosis was

  17. alphaENaC-mediated lithium absorption promotes nephrogenic diabetes insipidus

    NARCIS (Netherlands)

    Christensen, B.M.; Zuber, A.M.; Loffing, J.; Stehle, J.C.; Deen, P.M.T.; Rossier, B.C.; Hummler, E.

    2011-01-01

    Lithium-induced nephrogenic diabetes insipidus (NDI) is accompanied by polyuria, downregulation of aquaporin 2 (AQP2), and cellular remodeling of the collecting duct (CD). The amiloride-sensitive epithelial sodium channel (ENaC) is a likely candidate for lithium entry. Here, we subjected transgenic

  18. A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2

    DEFF Research Database (Denmark)

    Hinrichs, Gitte R; Hansen, Louise H; Nielsen, Maria R

    2016-01-01

    Mutations in the vasopressin V2 receptor gene AVPR2 may cause X-linked nephrogenic diabetes insipidus by defective apical insertion of aquaporin-2 in the renal collecting duct principal cell. Substitution mutations with exchange of arginine at codon 137 can cause nephrogenic syndrome...... of inappropriate antidiuresis or congenital X-linked nephrogenic diabetes insipidus. We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins. Nephrogenic diabetes insipidus was demonstrated by water deprivation test and resistance to vasopressin...

  19. Prática fisioterapêutica no tratamento da fibrose cística

    Directory of Open Access Journals (Sweden)

    Carolina Lazzarim de Conto

    2014-08-01

    Full Text Available A fibrose cística (FC, denominada também de mucoviscidose, é uma doença genética do tipo autossômica recessiva que acomete principalmente crianças e indivíduos de raça branca. O objetivo deste estudo foi propiciar uma visão sobre a FC, assim como as possíveis formas de tratamento fisioterapêutico. A pesquisa da literatura foi realizada nas bases de dados SciELO e PubMed, no período de abril de 2002 a março de 2013, através da seleção de artigos científicos referentes à FC, utilizando como palavras-chave: “fibrose cística”, “fisioterapia em fibrose cística” e “fisioterapia respiratória”. Por meio desta revisão, pôde-se observar que, apesar da complexidade da doença, a prática fisioterapêutica, com o uso das técnicas: tapotagem, vibração, drenagem postural (DP, huffing, oscilação oral de alta frequência (OOAF, drenagem autógena (DA e o ciclo ativo da respiração (CAR, apresenta eficácia tanto no tratamento como na manutenção da qualidade de vida dos pacientes com FC.

  20. Isometric and isokinetic muscle strength in patients with fibrositis syndrome. New characteristics for a difficult definable category of patients

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Danneskiold-Samsøe, B

    1987-01-01

    A common complaint among patients with fibrositis syndrome is exhaustion and fatique. It was therefore felt desirable to evaluate the muscle strength of these patients compared with normal subjects. Maximum isometric and isokinetic strength of knee extension was measured in 15 patients and 15...... healthy matched subjects, using an isokinetic dynamometer (Cybex II). Maximum isometric strength at various knee extension angles (90 degrees, 60 degrees and 30 degrees degrees) was significantly (p less than 0.001) lower in the fibrositis group than in controls, a reduction of approximately 58......-66%. Maximum isokinetic strength at various knee extension velocities (30-240 degrees per second) was also significantly (p less than 0.01) lower in the fibrositis group than in controls, the reduction being approximately 41-51%. In conclusion, isometric and isokinetic muscle strength is found to be lower...

  1. O perfil dos cuidadores de pacientes pediátricos com fibrose cística

    OpenAIRE

    Alves, Stella Pegoraro; Bueno, Denise

    2018-01-01

    Resumo O objetivo desse estudo foi identificar o perfil do cuidador principal de pacientes pediátricos com Fibrose Cística (FC). Estudo transversal, descritivo e prospectivo, no qual foi realizado, durante consulta farmacêutica, entrevista com cuidadores de pacientes fibrocísticos acompanhados em um centro de referência de um Hospital Universitário do Sul do Brasil. Foram obtidas informações gerais sobre os cuidadores, sobre o entendimento da doença, os medicamentos em uso do paciente e a din...

  2. Fibrosing mediastinitis and thrombosis of superior vena cava associated with Behcet's disease

    International Nuclear Information System (INIS)

    Harman, Mustafa; Sayarlioglu, Mehmet; Arslan, Halil; Ayakta, Hayati; Harman, Ece

    2003-01-01

    We present CT, MRI and venography findings in 13-year boy with mediastinal fibrosis and superior vena cava (SVC) thrombosis associated with Behcet's disease. Fibrosing mediastinitis is an excessive fibrotic reaction that occurs in the mediastinum and may lead to compression of mediastinal structures (especially vascular). This condition is usually idiopathic, though many (and perhaps most) cases in the USA are thought to be caused by an abnormal immunologic response to Histoplasma capsulatum infection. SVC syndrome secondary to extrinsic compression by mediastinal fibrosis combined with Behcet's disease has rarely been described. Radiological investigations of this syndrome are necessary to avoid a useless anticoagulant therapy

  3. Lethal fibrosing mediastinitis in a child possibly due to Mycobacterium tuberculosis.

    Science.gov (United States)

    Goussard, Pierre; Gie, Robert P; Janson, Jacque

    2018-04-10

    Fibrosing mediastinitis (FM) is a rare benign disease resulting from an excessive fibro-inflammatory reaction in the mediastinum that can compress and occlude mediastinal structures. There is a granulomatous and a diffuse non-granulomatous form of FM. We present a case of granulomatous FM following possible tuberculosis in a young child who presented with severe compression of the airways, pulmonary artery and the superior vena cava (SVC), unresponsive to treatment, resulting in death. Bronchoscopic findings included concentric narrowing and mucosal hyperaemia of the tracheobronchial airways. This case raises awareness of this rare complication and the limited treatment options available. © 2018 Wiley Periodicals, Inc.

  4. Bilateral Breast Enlargement: An Unusual Presentation of Superior Vena Cava Obstruction in a Hemodialysis Patient with Fibrosing Mediastinitis

    International Nuclear Information System (INIS)

    Goo, Dong Erk; Kim, Yong Jae; Choi, Deuk Lin; Kwon, Kui Hyang; Yang, Seung Boo

    2011-01-01

    A 67-year-old woman with end-stage renal disease presented with profound edema of both breasts. The presence of a patent hemodialysis basilic transposition fistula and superior vena cava obstruction (SVC), due to fibrosing mediastinitis, was demonstrated by the use of fistulography. Endovascular treatment with a balloon and stent caused immediate resolution of the breast edema.

  5. Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.

    Science.gov (United States)

    Erdem, Beril; Schulz, Angela; Saglar, Emel; Deniz, Ferhat; Schöneberg, Torsten; Mergen, Hatice

    2018-01-01

    Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the inability to concentrate urine. While central diabetes insipidus is caused by mutations in the AVP , the reason for genetically determined nephrogenic diabetes insipidus can be mutations in AQP2 or AVPR2 After release of AVP from posterior pituitary into blood stream, it binds to AVPR2, which is one of the receptors for AVP and is mainly expressed in principal cells of collecting ducts of kidney. Receptor activation increases cAMP levels in principal cells, resulting in the incorporation of AQP2 into the membrane, finally increasing water reabsorption. This pathway can be altered by mutations in AVPR2 causing nephrogenic diabetes insipidus. In this study, we functionally characterize four mutations (R68W, ΔR67-G69/G107W, V162A and T273M) in AVPR2, which were found in Turkish patients. Upon AVP stimulation, R68W, ΔR67-G69/G107W and T273M showed a significantly reduced maximum in cAMP response compared to wild-type receptor. All mutant receptor proteins were expressed at the protein level; however, R68W, ΔR67-G69/G107W and T273M were partially retained in the cellular interior. Immunofluorescence studies showed that these mutant receptors were trapped in ER and Golgi apparatus. The function of V162A was indistinguishable from the indicating other defects causing disease. The results are important for understanding the influence of mutations on receptor function and cellular trafficking. Therefore, characterization of these mutations provides useful information for further studies addressing treatment of intracellularly trapped receptors with cell-permeable antagonists to restore receptor function in patients with nephrogenic diabetes insipidus. © 2018 The authors.

  6. Microdissecting the Genetic Events in Nephrogenic Rests and Wilms’ Tumor Development

    Science.gov (United States)

    Charles, Adrian K.; Brown, Keith W.; Berry, P. Jeremy

    1998-01-01

    Nephrogenic rests are precursor lesions associated with about 40% of Wilms’ tumors. This study identifies genetic steps occurring in the development of Wilms’ tumor. Thirty-four Wilms’ tumors with nephrogenic rests and/or areas of anaplasia were microdissected from paraffin sections to determine whether and at what stage loss of heterozygosity (LOH) occurred, using polymerase chain reaction-based polymorphic markers at 11p13, 11p15, and 16q. LOH at these loci have been identified in Wilms’ tumors and are associated with identified or putative tumor suppressor genes. Three cystic nephromas/cystic partially differentiated nephroblastomas were also examined. LOH was detected in six cases at 11p13 and in six cases at 11p15, and two of these cases had LOH at both loci. All intralobar rests showing LOH also showed LOH in the tumor. A case with a small perilobar rest showed LOH of 11p13 only in the tumor. Five cases showing LOH at 16q were identified (this was identified only in the tumor, and not in the associated rest), and three of these had recurrence of the tumor. Two cases had a WT1 mutation (one germline and the other somatic), as well as LOH in both the intralobar rest and the tumor. A cystic partially differentiated nephroblastoma showed loss at 11p13 and 11p15, as well as at 16q. This study suggests that LOH at 11p13 and 11p15 and WT1 mutations are early events but that LOH at 16q occurs late in the pathogenesis of Wilms’ tumor. Intralobar and perilobar nephrogenic rests are known to have different biological behaviors, and this study suggests that they are genetically different. A multistep model of Wilms’ tumor pathogenesis is supported by these findings. PMID:9736048

  7. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

    Science.gov (United States)

    García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga, Leire; Aguirre, Mireia; Chocron, Sara; Madrid, Alvaro; Lafita Tejedor, Francisco Javier; Gil Campos, Mercedes; Sánchez Del Pozo, Jaime; Ruiz Cano, Rafael; Espino, Mar; Gomez Vida, Jose Maria; Santos, Fernando; García Nieto, Victor Manuel; Loza, Reyner; Rodríguez, Luis Miguel; Hidalgo Barquero, Emilia; Printza, Nikoleta; Camacho, Juan Antonio; Castaño, Luis; Ariceta, Gema

    2015-10-01

    Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height -1.9 ± 2.1 and Z-weight -2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration. Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heterozygous females with clinical NDI symptoms. • In most cases (90 %), inherited nephrogenic diabetes insipidus (NDI) is an X-linked disease, caused by mutations in the AVPR2 gene. • In rare occasions (10 %), it is caused by mutations in the AQP2 gene. What is new: • In this study, we report 10 novel mutations associated with NDI. • We have detected a high presence (50 %) of heterozygous carriers with clinical NDI symptoms.

  8. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene

    DEFF Research Database (Denmark)

    Færch, Mia; Christensen, Jane H; Corydon, Thomas J

    2008-01-01

    and polyuria since infancy. Initial clinical testing confirmed a diagnosis of diabetes insipidus (DI). Urine osmolarity rose during fluid deprivation and after 20 microg of intranasal desmopressin [1-deamino-8-d-arginine-vasopressin (dDAVP)]. A similar DI phenotype was found in his brother. Methods The coding......Objective To identify the molecular basis and clinical characteristics of X-linked congenital nephrogenic diabetes insipidus (CNDI) presenting with an unusual phenotype characterized by partial resistance to AVP. Subjects The proband was admitted at the age of 4 years with a history of polydipsia...

  9. Intracranical calcification in siblings with nephrogenic diabetes insipidus: CT and MRI

    International Nuclear Information System (INIS)

    Tohyama, J.; Inagaki, M.; Koeda, T.; Ohno, K.; Takeshita, K.

    1993-01-01

    Computed tomography and magnetic resonance imaging (MRI) were used to examine three male siblings with nephrogenic diabetes insipidus (NDI). The two elder brothers had varying degrees of unusual intracranial calcification; the eldest also showed involvement of the cerebral white matter on MRI. The severity of intracranial calcification was related to the time before initiation of treatment and inversely to mental ability. Brain damage and mental retardation in NDI may be caused by a delay in initiating treatment; early detection and treatment are important to prevent brain damage. (orig.)

  10. Multifocal fibrosing thyroiditis: report of 55 cases of a poorly recognized entity.

    Science.gov (United States)

    Fellegara, Giovanni; Rosai, Juan

    2015-03-01

    During the course of our consultation activity, we have recognized a peculiar form of thyroiditis in which multiple foci of fibrosis, most of which were associated with reactive atypia of the surrounding follicles, are present. We have referred to this condition, both in our consultation reports and in the third series of A.F.I.P. Fascicle on Tumors of the Thyroid Gland, as "multifocal fibrosing thyroiditis" or (less frequently) "multifocal sclerosing thyroiditis," which are descriptive terms that highlight the benign/inflammatory nature of the process, its multiplicity, and its unknown pathogenesis. The aim of this study is to better define the morphologic features of this process and correlate it with some clinical data. With this purpose, the consultation files of one of the authors (J.R.) were searched for cases coded as multifocal fibrosing thyroiditis or multifocal sclerosing thyroiditis in a 20-year period ranging from January 1989 to December 2009. A total of 55 cases were identified that displayed the above-listed features. There were 51 (93%) female and 4 (7%) male patients (F/M=12.75), with ages ranging between 15 and 71 years (mean age, 47.03 y; median age, 44.5 y). Microscopically, multiple foci of fibrosis were identified in all cases, their number ranging from 2 to 51 per case (mean number, 16), with a mean diameter of 3 mm (range: 0.36 to 15.1 mm). Although heterogenous in shape and size, the individual foci were rather similar to each other in composition, being characterized by a fibrotic poorly cellular center that merged with a cellular peripheral zone. Some of the follicular structures present at the periphery of the scar and-to a lesser extent-those entrapped inside it underwent complex reactive and regenerative (atypical) changes that simulated malignancy. We discuss the differential diagnosis with other benign and malignant thyroid conditions and speculate about its pathogenesis and possible relationship with papillary thyroid microcarcinoma.

  11. Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus

    NARCIS (Netherlands)

    Trimpert, C.; van den Berg, D.T.; Fenton, R.A.; Klussmann, E.; Deen, P.M.T.

    2012-01-01

    Background Mutations in the aquaporin-2 (AQP2) gene cause nephrogenic diabetes insipidus (NDI), a renal disorder characterized by polyuria due to a lacking antidiuretic response to vasopressin. While most AQP2 mutants in recessive NDI are misfolded and retained in the endoplasmic reticulum,

  12. X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy

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    Janchevska A.

    2014-12-01

    Full Text Available Nephrogenic diabetes insipidus (NDI is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP/antidiuretic hormone (ADH. We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS] and height (+0.15 SDS for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p.Pro(CCC286Leu(CTC] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.

  13. Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Joyce, Emily; Ho, Jacqueline; El-Gharbawy, Areeg; Salgado, Cláudia M; Ranganathan, Sarangarajan; Reyes-Múgica, Miguel

    2017-01-01

    Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable. A 20-month-old boy presented with failure to thrive, polyuria, polydipsia, and rickets. He initially showed evidence of a renal tubular acidosis, mild renal insufficiency, and nephrogenic diabetes insipidus. His initial ophthalmologic examination did not demonstrate corneal crystals. His subsequent workup revealed phosphaturia, suggesting a partial proximal tubulopathy. Concomitantly, a renal biopsy revealed prominent podocytes with an immature glomerular appearance, and electron microscopy analysis showed numerous intracellular crystals within tubular epithelial cells. Subsequent laboratory and genetic testing confirmed a diagnosis of infantile nephropathic cystinosis. This case highlights the variability in the clinical presentation of cystinosis, resulting in an uncommon clinical picture of a rare disease. Given that treatment is available to prolong renal function and minimize the extra-renal manifestations of this disorder, early diagnosis is essential. It is important to raise the index of suspicion of cystinosis by recognizing its subtle morphological changes in young patients, and that nephrogenic diabetes insipidus can be secondary to this disorder.

  14. Exacerbação aguda da fibrose pulmonar idiopática

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    Natália Melo

    2009-03-01

    Full Text Available Resumo: Alguns doentes com fibrose pulmonar idiopática (FPI apresentam durante a sua evolução fases de agravamento clínico sem causa conhecida, designadas como “exacerbação aguda” ou “fase acelerada” da doença (EA. Caracterizam-se pelo agravamento marcado da dispneia, hipoxemia e pelo aparecimento de novas opacidades pulmonares ou pelo agravamento das já existentes no estudo imagiológico. Os achados histológicos típicos são o dano alveolar difuso (DAD sobreposto a alterações de pneumonia intersticial usual (UIP. Esta entidade clínica associa-se a uma mortalidade elevada, não havendo até ao momento nenhuma terapêutica de comprovada eficácia.Os autores descrevem os casos clínicos de cinco doentes que apresentaram alterações clínicas, funcionais e radiológicas sugestivas de EA-FPI, assim como o tratamento efectuado e a evolução observada, enquadrando-os na discussão das características normalmente apresentadas por esta entidade. Abstract: Some patients with Idiopathic Pulmonary Fibrosis (IPF have disease accelerated deterioration without identifiable cause referred as “acute exacerbation” or “accelerated stage”. It is characterized by severe worsening of dyspnea, hypoxemia and new or progressive opacities on imaging studies. The typical histological findings are diffuse alveolar damage in addition to the features of usual interstitial pneumonia pattern. Mortality in this clinical entity is very high and no efficacious therapeutic have been described.The authors describe the clinical, functional and radiological features, treatment and evolution of five patients with IPF acute exacerbation. A discussion will be carry out concerning the IPF acute exacerbation usual features comparing with the alterations noticed in those patients. Palavras-chave: Fibrose pulmonar idiopática, exacerbação aguda, Key words: Idiopathic

  15. Fibrose quística: Revisão

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    C. Damas

    2008-01-01

    Full Text Available Resumo: A fibrose quística (FQ é a doença autossómica recessiva mais frequente na raça caucasiana. Caracteriza-se por mutações na CFTR, uma proteína transmembranar responsável pelo transporte de cloretos. Esta proteína tem uma ampla distribuição epitelial, o que dá um carácter sistémico a esta doença e consequentemente múltiplas manifestações clínicas de gravidade variável. A melhoria dos cuidados de saúde, associada ao desenvolvimento do arsenal terapêutico, permitiu um aumento da sobrevida destes doentes, de tal forma que a FQ já não pode ser abordada como doença da idade pediátrica. Também a evolução técnica na transplantação abriu novas perspectivas quanto ao tratamento desta afecção.Assim, cada vez mais esta patologia implica um envolvimento multidisciplinar no qual a pneumologia tem uma parte preponderante. Abstract: Cystic Fibrosis (CF is the recessive autossomic disease more frequent in the caucasian race. The main characteristic is a mutation in CFTR, a trans-membranar protein, responsible for chlorates transportation. This protein has a diffuse epithelial distribution, which gives a multissistemic involvement to this disease, with clinical manifestations with variable degrees of severity. The development of better health care associated with new therapeutic options became responsible for an increase of survival, so CF is no longer a paediatric disease. Lung transplantation also has an important role, bringing new treatment perspectives.So, this pathology has an increased multi-disciplinary involvement in which the pulmonologist have a preponderant role. Palavras-chave: Fibrose quística, revisão, Key-words: Cystic fibrosis, review

  16. Traction bronchiectasis in cryptogenic fibrosing alveolitis: associated computed tomographic features and physiological significance

    International Nuclear Information System (INIS)

    Desai, Sujal R.; Wells, Athol U.; Bois, Roland M. du; Rubens, Michael B.; Hansell, David M.

    2003-01-01

    Our objective was to evaluate the associated CT features and physiological consequences of traction bronchiectasis in patients with cryptogenic fibrosing alveolitis (CFA). The CT scans of 212 patients with CFA (158 men, 54 women; mean age 62.2±10.6 years) were evaluated independently by two observers. The extent of fibrosis, the proportions of a reticular pattern and ground-glass opacification and the extent of emphysema were scored at five levels. The predominant CT pattern, coarseness of a reticular pattern and severity of traction bronchiectasis were graded semiquantitatively. Physiological indices were correlated with CT features. There was traction bronchiectasis on CT in 202 of 212 (95%) patients. Increasingly severe traction bronchiectasis was independently associated with increasingly extensive CFA (p CO (p 2 (p<0.0005), but not indices of air-flow obstruction. In CFA, traction bronchiectasis increases with more extensive disease, a lower proportion of ground-glass opacification and a coarser reticular pattern, but it decreases with concurrent emphysema. Increasingly severe traction bronchiectasis is associated with additional physiological impairment for a given extent of pulmonary fibrosis and emphysema. (orig.)

  17. Multifocal fibrosing thyroiditis and its association with papillary thyroid carcinoma using BRAF pyrosequencing.

    Science.gov (United States)

    Frank, Renee; Baloch, Zubair W; Gentile, Caren; Watt, Christopher D; LiVolsi, Virginia A

    2014-09-01

    Multifocal fibrosing thyroiditis (MFT) is characterized by numerous foci of fibrosis in a stellate configuration with fibroelastotic and fibroblastic centers entrapping epithelial structures. MFT has been proposed as a risk factor for papillary thyroid carcinoma (PTC) development. We attempted to identify whether MFT showed such molecular changes and could possibly be related to PTC. We identified seven cases of PTC with MFT in our institutional pathology database and personal consult service of one of the authors (VAL) for the years 1999 to 2012. Areas of PTC, MFT, and normal tissue were selected for BRAF analysis. Macro-dissection, DNA extraction and PCR amplification, and pyrosequencing were performed to detect BRAF mutations in codon 600. All of the MFT lesions and normal thyroid tissue were negative for BRAF mutations. Of the seven PTCs analyzed, five (71 %) were negative for BRAF mutations, while two cases were positive. In our study, none of the MFT lesions harbored BRAF mutations, whereas 29 % (two of seven) PTCs in the same gland were positive. Hence, in this small study, we found no evidence that the MFT lesion is a direct precursor to PTC. It is likely an incidental bystander in the process and a reflection of the background thyroiditis.

  18. Traction bronchiectasis in cryptogenic fibrosing alveolitis: associated computed tomographic features and physiological significance

    Energy Technology Data Exchange (ETDEWEB)

    Desai, Sujal R. [Department of Radiology, King' s College Hospital, Denmark Hill, SE5 9RS, London (United Kingdom); Wells, Athol U.; Bois, Roland M. du [Interstitial Lung Disease Unit, Royal Brompton Hospital, Emmanuel Kaye Building, Manresa Road, Fulham, SW6 6LR, London (United Kingdom); Rubens, Michael B.; Hansell, David M. [Department of Radiology, Royal Brompton Hospital, Sydney Street, SW3 6NP, London (United Kingdom)

    2003-08-01

    Our objective was to evaluate the associated CT features and physiological consequences of traction bronchiectasis in patients with cryptogenic fibrosing alveolitis (CFA). The CT scans of 212 patients with CFA (158 men, 54 women; mean age 62.2{+-}10.6 years) were evaluated independently by two observers. The extent of fibrosis, the proportions of a reticular pattern and ground-glass opacification and the extent of emphysema were scored at five levels. The predominant CT pattern, coarseness of a reticular pattern and severity of traction bronchiectasis were graded semiquantitatively. Physiological indices were correlated with CT features. There was traction bronchiectasis on CT in 202 of 212 (95%) patients. Increasingly severe traction bronchiectasis was independently associated with increasingly extensive CFA (p<0.0005), a coarser reticular pattern (p<0.001), a lower proportion of ground-glass opacification (p<0.005) and less extensive emphysema (p<0.0005). Increasingly severe traction bronchiectasis was independently related to depression of DL{sub CO} (p<0.005), FVC (p=0.02) and pO{sub 2} (p<0.0005), but not indices of air-flow obstruction. In CFA, traction bronchiectasis increases with more extensive disease, a lower proportion of ground-glass opacification and a coarser reticular pattern, but it decreases with concurrent emphysema. Increasingly severe traction bronchiectasis is associated with additional physiological impairment for a given extent of pulmonary fibrosis and emphysema. (orig.)

  19. Nephrogenic diabetes insipidus with intracranial calcification in a child with thalassemia minor.

    Science.gov (United States)

    Dimple, Jain; Alka, Jadhav; Mona, Gajre; Atul, Deshmukh

    2013-09-01

    There are numerous causes for intracranial calcification in children. We describe an unusual cause of intracranial calcification in a child, namely, nephrogenic diabetes insipidus (NDI). A 12-year-old boy presented with seizures and developmental delay. MRI of the brain revealed intracranial calcification. Evaluation showed findings suggestive of NDI. The lack of evidence of any other metabolic defect suggests that these calcifications were secondary to NDI. He also had anemia for which he was investigated and diagnosed as thalassemia minor. Detailed literature review failed to reveal any reported association between NDI and thalassemia minor. We report this case to emphasize the importance of early diagnosis and treatment of NDI to prevent organic brain damage.

  20. Long-Term Outcomes in a Family with Nephrogenic Syndrome of Inappropriate Antidiuresis

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    Yoon Hi Cho

    2009-01-01

    Full Text Available We report a familial case of the nephrogenic syndrome of inappropriate antidiuresis (NSIAD, including 30-year followup data on two patients. The proband and one maternal uncle presented in their infancy with severe recurrent hyponatremia, and clinical pictures consistent with the syndrome of inappropriate antidiuretic hormone (SIADH in the absence of an elevated ADH level. They were both confirmed to be hemizygous for the R137C mutation on the V2R gene (AVPR2, the same locus of the gain of function mutation demonstrated in the original reports of this condition. The proband's mother was identified as an asymptomatic carrier of this X-linked condition. Our case describes a favourable long-term outcome for NSIAD, in particular, successful treatment with oral urea during the infancy period, and with self-regulated precautions on fluid intake into adult life.

  1. Long-Term Outcomes in a Family with Nephrogenic Syndrome of Inappropriate Antidiuresis

    Directory of Open Access Journals (Sweden)

    Rosenthal Stephen

    2009-12-01

    Full Text Available We report a familial case of the nephrogenic syndrome of inappropriate antidiuresis (NSIAD, including 30-year followup data on two patients. The proband and one maternal uncle presented in their infancy with severe recurrent hyponatremia, and clinical pictures consistent with the syndrome of inappropriate antidiuretic hormone (SIADH in the absence of an elevated ADH level. They were both confirmed to be hemizygous for the R137C mutation on the V2R gene (AVPR2, the same locus of the gain of function mutation demonstrated in the original reports of this condition. The proband's mother was identified as an asymptomatic carrier of this X-linked condition. Our case describes a favourable long-term outcome for NSIAD, in particular, successful treatment with oral urea during the infancy period, and with self-regulated precautions on fluid intake into adult life.

  2. Gadolinium-induced nephrogenic systemic fibrosis: the rise and fall of an iatrogenic disease

    DEFF Research Database (Denmark)

    Bennett, Charles L; Qureshi, Zaina P; Sartor, A Oliver

    2012-01-01

    BACKGROUND.: In 2006, nephrologists in Denmark unexpectedly identified chronic kidney disease (CKD) patients with a new syndrome, nephrogenic systemic fibrosis (NSF). Subsequently, 1603 NSF patients were reported to the Food and Drug Administration. Sixty hospitals in the USA account for 93......% of these cases, and two hospitals in Denmark account for 4% of these reports. We review Denmark's identification and subsequent rapid eradication of NSF. METHODS.: NSF reports from clinicians, the Danish Medicines Agency (DMA) and gadolinium-based contrast agents (GBCAs) manufacturers were reviewed (2002...... at Skejby Hospital and Herlev Hospital, respectively, began performing gadodiamide-enhanced magnetic resonance angiography scans (0.3 mmol/kg) of CKD patients. In 2005, Herlev clinicians requested assistance in evaluating etiological causes of NSF occurring among 10 CKD patients who had developed NSF...

  3. Hyperactivation of Nrf2 in early tubular development induces nephrogenic diabetes insipidus

    Science.gov (United States)

    Suzuki, Takafumi; Seki, Shiori; Hiramoto, Keiichiro; Naganuma, Eriko; Kobayashi, Eri H.; Yamaoka, Ayaka; Baird, Liam; Takahashi, Nobuyuki; Sato, Hiroshi; Yamamoto, Masayuki

    2017-01-01

    NF-E2-related factor-2 (Nrf2) regulates cellular responses to oxidative and electrophilic stress. Loss of Keap1 increases Nrf2 protein levels, and Keap1-null mice die of oesophageal hyperkeratosis because of Nrf2 hyperactivation. Here we show that deletion of oesophageal Nrf2 in Keap1-null mice allows survival until adulthood, but the animals develop polyuria with low osmolality and bilateral hydronephrosis. This phenotype is caused by defects in water reabsorption that are the result of reduced aquaporin 2 levels in the kidney. Renal tubular deletion of Keap1 promotes nephrogenic diabetes insipidus features, confirming that Nrf2 activation in developing tubular cells causes a water reabsorption defect. These findings suggest that Nrf2 activity should be tightly controlled during development in order to maintain renal homeostasis. In addition, tissue-specific ablation of Nrf2 in Keap1-null mice might create useful animal models to uncover novel physiological functions of Nrf2. PMID:28233855

  4. Congenital Nephrogenic Diabetes Insipidus Presented With Bilateral Hydronephrosis and Urinary Infection: A Case Report.

    Science.gov (United States)

    Zheng, Kewen; Xie, Yi; Li, Hanzhong

    2016-05-01

    Nephrogenic diabetes insipidus (NDI) is a condition resulting from the kidney's impaired response to circulating antidiuretic hormone (ADH), leading to polydipsia and polyuria. Urinary tract dilatation caused by NDI is a rare situation. Here, we report a case of congenital NDI presented with bilateral hydronephrosis.A 15-year-old boy complaining a history of intermittent fever was admitted to Peking Union Medical College Hospital. He voided 10 to 15 L of urine daily. Radiographic examination revealed severe dilatation of bilateral renal pelvis, ureter, and bladder. Urinalysis shows hyposthenuria.He was diagnosed NDI since born. Transient insertion of a urethral catheter helped to relieve fever. Medical therapy of hydrochlorothiazide and amiloride was prescribed and effective.Dilatation of urinary tract caused by diabetes insipidus is rare, but may be present in severe condition. Therefore, it is crucial for clinicians to perform early treatment to avoid impairment of renal function.

  5. Use of acetazolamide in lithium-induced nephrogenic diabetes insipidus: a case report

    Directory of Open Access Journals (Sweden)

    Ricardo A Macau

    2018-02-01

    Full Text Available Lithium-induced nephrogenic diabetes insipidus (Li-NDI is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series. We describe the case of a 63-year-old woman with bipolar disorder treated with lithium and no previous history of diabetes insipidus. She was hospitalized due to a bowel obstruction and developed severe dehydration after surgery when she was water deprived. After desmopressin administration and unsuccessful thiazide and amiloride treatment, acetazolamide was administrated to control polyuria and hydroelectrolytic disorders without significant side effects. To our knowledge, this is the third publication on acetazolamide use in Li-NDI patients.

  6. Nephrogenic diabetes insipidus (NDI: clinical, laboratory and genetic characterization of five Brazilian patients

    Directory of Open Access Journals (Sweden)

    Maria Helena Vaisbich

    2009-05-01

    Full Text Available INTRODUCTION: Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. Manifestations include polyuria, polydipsia, hyposthenuria, recurrent episodes of dehydration and fever and growth failure. Most cases are caused by mutations in the AVPR2 gene. The mutant receptors are trapped intracellularly. METHOD: We studied five boys using clinical, laboratory and molecular data. The mean age at diagnosis was 14.6 months (range 6 to 24 and 12.2 years (7.8 to 19 after the follow-up period. The mean period of follow-up was 132.2 ± 50.9 months. RESULTS: The geometric means of the z-scores of weight and stature were -4.5 and -3.6, respectively, at diagnosis. At the last medical appointment, the z-scores of weight and stature were -0.3 and -0.9, respectively. Three patients were diagnosed with ureterohydronephrosis and exhibited increased post-void urine volume. Mutations in the AVPR2 gene were found in all patients, and the carrier status was confirmed in four of five cases. Two unrelated children presented identical mutations (S167L in arginine vasopressin R2. Two of the patients had a mutation that has already been described in other Brazilian families (R337X, and one patient showed a de novo mutation (Y128D in arginine vasopressin R2, since his mother's molecular analysis was normal. The recurrence risk for this family was significantly reduced. CONCLUSION: This study reports the clinical and laboratory characterization of Nephrogenic diabetes insipidus and reiterates the importance of the genetic basis that underlies the disease diagnosis and genetic counseling.

  7. Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-10-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

  8. Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests.

    Science.gov (United States)

    Jain, D; Hui, P; McNamara, J; Schwartz, D; German, J; Reyes-Múgica, M

    2001-01-01

    The triad of small body size, immunodeficiency, and sun-sensitive facial erythema characterizes the phenotype Bloom syndrome (BS), a rare autosomal recessive disorder with a striking predisposition to multiple types of cancers that arise earlier than expected in the general population. Here we report two sibs with BS. The older, a 15-year-old-girl, developed a hepatocellular carcinoma, a neoplasm not yet reported in association with BS. Her younger brother developed an anaplastic Wilms tumor (WT) associated with nephrogenic rests at the age of 31/2 years, and this was followed by a myelodysplastic syndrome. Complex cytogenetic abnormalities were identified in all three neoplasms. These examples expand the spectrum of malignancies occurring in BS to include liver cell neoplasms, and confirm the association of nephrogenic rests with WT, even in the setting of BS.

  9. Nephrogenic adenoma of the bladder in a prune belly syndrome patient: case report and review of the literature.

    Science.gov (United States)

    Broecker, Justine S; Steelman, Charlotte K; Broecker, Bruce H; Shehata, Bahig M

    2011-01-01

    Nephrogenic adenoma (NA) is a rare lesion of the urinary tract widely considered to be a metaplastic response to urothelial injury. Herein, we present the case of an 8-year-old male with prune belly syndrome who presented with gross hematuria. Investigation revealed a bladder mass; however, upon cystoscopic examination, multiple polypoid lesions were identified. Microscopic examination revealed NA of the bladder. To our knowledge, this is the second reported case of NA of the bladder in association with prune belly syndrome.

  10. Nephrogenic tumors

    International Nuclear Information System (INIS)

    Wiesbauer, P.

    2008-01-01

    Nephroblastomas are the most common malignant renal tumors in childhood. According to the guidelines of the SIOP (Societe Internationale d'Oncologie Pediatrique) and GPOH (Gesellschaft fuer Paediatrische Onkologie und Haematologie) pre-operative chemotherapy can be started without histological confirmation and thus initial imaging studies, in particular ultrasound, play an outstanding role for diagnostic purposes

  11. Histopathologic Overlap between Fibrosing Mediastinitis and IgG4-Related Disease

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    Tobias Peikert

    2012-01-01

    Full Text Available Fibrosing mediastinitis (FM and IgG4-related disease (IgG4-RD are two fibroinflammatory disorders with potentially overlapping clinical and radiological features. In this paper, we looked for histopathologic features of IgG4-RD and enumerated infiltrating IgG4-positive plasma cells within mediastinal tissue biopsies from FM patients. We identified 15 consecutive FM surgical mediastinal tissue biopsies between 1985 and 2006. All patients satisfied the clinical and radiological diagnostic criteria for FM. All patients had either serological or radiological evidence of prior histoplasmosis or granulomatous disease, respectively. Formalin-fixed paraffin-embedded tissue sections of all patients were stained for H&E, IgG, and IgG4. Three samples met the predefined diagnostic criteria for IgG4-RD. In addition, characteristic histopathologic changes of IgG4-RD in the absence of diagnostic numbers of tissue infiltrating IgG4-positive plasma cells were seen in a number of additional cases (storiform cell-rich fibrosis in 11 cases, lymphoplasmacytic infiltrate in 7 cases, and obliterative phlebitis/arteritis in 2 cases. We conclude that up to one-third of histoplasmosis or granulomatous-disease-associated FM cases demonstrate histopathological features of IgG4-RD spectrum. Whether these changes occur as the host immune response against Histoplasma or represent a manifestation of IgG4-RD remains to be determined. Studies to prospectively identify these cases and evaluate their therapeutic responses to glucocorticoids and/or other immunosuppressive agents such as rituximab are warranted.

  12. Morphologic and molecular study of lung cancers associated with idiopathic pulmonary fibrosis and other pulmonary fibroses.

    Science.gov (United States)

    Guyard, Alice; Danel, Claire; Théou-Anton, Nathalie; Debray, Marie-Pierre; Gibault, Laure; Mordant, Pierre; Castier, Yves; Crestani, Bruno; Zalcman, Gérard; Blons, Hélène; Cazes, Aurélie

    2017-06-15

    Primitive lung cancers developed on lung fibroses are both diagnostic and therapeutic challenges. Their incidence may increase with new more efficient lung fibrosis treatments. Our aim was to describe a cohort of lung cancers associated with idiopathic pulmonary fibrosis (IPF) and other lung fibrotic disorders (non-IPF), and to characterize their molecular alterations using immunohistochemistry and next-generation sequencing (NGS). Thirty-one cancer samples were collected from 2001 to 2016 in two French reference centers for pulmonary fibrosis - 18 for IPF group and 13 for non-IPF group. NGS was performed using an ampliseq panel to analyze hotspots and targeted regions in 22 cancer-associated genes. ALK, ROS1 and PD-L1 expressions were assessed by immunohistochemistry. Squamous cell carcinoma was the most frequent histologic subtype in the IPF group (44%), adenocarcinoma was the most frequent subtype in the non-IPF group (62%). Forty-one mutations in 13 genes and one EGFR amplification were identified in 25 samples. Two samples had no mutation in the selected panel. Mutations were identified in TP53 (n = 20), MET (n = 4), BRAF (n = 3), FGFR3, PIK3CA, PTEN, STK11 (n = 2), SMAD4, CTNNB1, DDR2, ERBB4, FBXW7 and KRAS (n = 1) genes. No ALK and ROS1 expressions were identified. PD-L1 was expressed in 10 cases (62%) with only one (6%) case >50%. This extensive characterization of lung fibrosis-associated cancers evidenced molecular alterations which could represent either potential therapeutic targets either clues to the pathophysiology of these particular tumors. These findings support the relevance of large molecular characterization of every lung fibrosis-associated cancer.

  13. Fibrosing variant of Hashimoto thyroiditis is an IgG4 related disease.

    Science.gov (United States)

    Deshpande, Vikram; Huck, Amelia; Ooi, Esther; Stone, John H; Faquin, William C; Nielsen, G Petur

    2012-08-01

    Hashimoto thyroiditis (HT) and the fibrosing variant of Hashimoto thyroiditis (FVHT) are immune-mediated tumefactive lesions of the thyroid. Immunoglobulin G4-related disease (IgG4-RD) is now a widely recognised multi-organ system disease characterised by elevated serum and tissue concentrations of IgG4. In this study, the authors address several unresolved questions pertaining to the relationship between HT and FVHT, and the association of each of these diseases with IgG4-RD. The authors evaluated 28 consecutive cases of HT and nine cases of FVHT. The clinical, demographic and serological data were recorded. The slides were stained immunohistochemically using antibodies to IgG4 and IgG and the quantitative analysis was recorded. Data on thyroid function tests were available on seven cases of FVHT and 14 cases of HT. Based on the availability of data, hypothyroidism was noted in 62% (9/14) of HT and 86% of FVHT (6/7). FVHT demonstrated an exaggerated lobular pattern with lobules separated by cellular storiform-type fibrosis, resembling fibrosis seen in other forms of IgG-RD. The median IgG4 counts per high power field (×40) in HT and FVHT were 2.3 and 22, respectively. The median IgG4:IgG ratios in HT and FVHT were 0.11 and 0.58, respectively. The authors propose that FVHT belongs to the spectrum of IgG4-RD. Although a proportion of cases of HT show elevated numbers of IgG4 positive plasma cells, these cases lack the histological features typically associated with IgG4-RD, and thus the relationship between HT and IgG4-RD remains unproven.

  14. ESTUDO BIOQUÍMICO DO POTENCIAL DA MEMBRANA AMNIÓTICA NA FIBROSE HEPÁTICA INDUZIDA EM RATOS

    Directory of Open Access Journals (Sweden)

    Shaine Silva Maciel

    2016-11-01

    Full Text Available A fibrose hepática causada por obstrução do ducto biliar induz alterações tanto na estrutura como na função do fígado, e pode levar a cirrose e insuficiência hepática, quando não tradada. A membrana amniótica humana (MA devido às suas propriedades anti-inflamatórias e anti-fibróticas pode ser uma terapia alternativa. A proposta desse trabalho é analisar as alterações nos níveis séricos das principais enzimas celulares e da albumina, na fibrose hepática induzida pela ligadura do ducto biliar (LDB e após o tratamento com a MA. Dez ratos foram divididos nos grupos LDB e LDB+MA, e eutanasiados após 9 semanas da LDB. As amostras de sangue foram processadas bioquimicamente para análise da albumina (ALB, fosfatase alcalina (FA e transaminases (TGP e TGO.  Comparando os grupos experimentais verificou-se que no grupo LDB+MA houve a diminuição da ALB e TGP e no grupo LDB houve a diminuição da FA e TGO, entretanto sem apresentar diferença significante entre os grupos. Conclui-se que a MA, quando aplicada ao fígado no mesmo momento da indução da fibrose, parece não ter exercido efeito significativo na função hepática.

  15. Fibrose idiopática do mediastino: A propósito de um caso clínico

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    Maria João Canotilho

    2005-03-01

    Full Text Available Resumo: Descreve-se o caso clínico de um doente do sexo masculino com uma massa mediastínica de crescimento lento. Após terem-se efectuado vários exames complementares, foi através de cirurgia que se confirmou o diagnóstico de fibrose idiopática do mediastino. A remoção parcial da massa permitiu uma estabilização transitória das suas dimensões. Cerca de quatro anos depois, verificou-se um crescimento marcado com repercurssões importantes, através da inevitável compressão de estruturas vitais, que conduziram a hipertensão pulmonar grave. A fibrose idiopática do mediastino é uma entidade extremamente rara, estando descritas associações a outras patologias, mais frequentemente às auto-imunes, mas apresenta sempre um curso fatal quando não é possível a cirurgia.Rev Port Pneumol 2005; XI (2: 155-163 Abstract: We herein report a case of a male patient, who presented a mediastinal mass that had a slow growth over the years. After surgery, that made the diagnosis of idiopathic mediastinal fibrosis, the growth stabilized. Four years latter it was observed a substantial increase which lead to the inevitable compression of vital structures which, in turn, led to pulmonary hypertension. Idiopathic mediastinal fibrosis is an extremely rare pathology. There are same cases in which it is associated with other pathologies but has always a fatal prognosis when surgery is not an option.Rev Port Pneumol 2005; XI (2: 155-163 Palavras-chave: Fibrose do mediastino, síndroma da veia cava superior, hipertensão pulmonar, mediastinite fibrosante, Key words: Mediastinal fibrosis, superior vena cava syndrome, pulmonary hypertension, fibrosis mediastinites

  16. Síndrome mieloproliferativa transitória associada à trissomia do 21 e fibrose hepática

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    Sant'Anna Anna L.

    2002-01-01

    Full Text Available Recém-nascidos com Síndrome de Down (SD podem apresentar uma proliferação transitória de células imaturas no sangue periférico e medula óssea. A leucometria pode estar muito elevada, impossibilitando o diagnóstico diferencial com leucemia mielóide aguda (LMA. Em contraste com a LMA, a SMT regride espontaneamente em quatro a oito semanas. Objetivo: Apresentar uma criança com SD, SMT e fibrose hepática, que resultou num prognóstico desfavorável. Relato do Caso: D.M.S., masculino, estigmas da SD, hepatoesplenomegalia, sopro sistólico. Hemograma: 95.000 leucócitos/mm³, 19% blastos, 170.000 plaquetas/mm³, hemoglobina 16,2g/dL. Bilirrubina total 35,86 mg/dL, GOT 184 UI, GPT 122 UI. Ecocardiograma: canal átrio-ventricular total, hipertensão pulmonar, persistência do canal arterial. Sorologias negativas. Biópsia hepática: colestase, fibrose portal e sinusoidal, elementos mielóides imaturos. Após normalização da leucometria, manteve plaquetopenia e disfunção hepática. No 50º dia de vida, quimioterapia com Daunoblastina e Citarabina. Evoluiu com pneumonia e insuficiência renal. Óbito no 61ºdia. Comentários: A história natural da SMT gera questões intrigantes a respeito de sua origem, evolução e desenvolvimento de leucemia subseqüente. A disfunção hepática e a fibrose têm impacto prognóstico. Em relato anterior, de cada oito casos de SMT com disfunção hepática, seis evoluíram para óbito, sendo que fibrose hepática difusa, associada a eritropoese extra-medular, foi encontrada em quatro casos. Acredita-se que a lesão hepática resulta da produção de citocinas pelos megacariócitos, por ser o fígado o segundo órgão hematopoético de células anormais, após a medula óssea.

  17. Fibrose cística: uma abordagem clínica e nutricional Cystic fibrosis: a clinical and nutritional approach

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    Fernanda Ribeiro Rosa

    2008-12-01

    Full Text Available A fibrose cística é a doença genética letal mais comum em populações caucasianas e é caracterizada por infecções crônicas e recorrentes do pulmão, insuficiência pancreática e elevados níveis de cloro no suor. É uma doença de herança autossômica recessiva causada pela mutação no gene do Regulador da Condutância Transmembrana da Fibrose Cística, que induz o organismo a produzir secreções espessas e viscosas que obstruem os pulmões, o pâncreas e o ducto biliar. Muitos pacientes apresentam insuficiência pancreática, que leva a má-absorção de nutrientes especialmente de proteínas e lipídeos e a complicações gastrintestinais tais como prolapso retal, síndrome da obstrução intestinal, constipação e cirrose hepática. A fibrose cística normalmente é diagnosticada na infância, pelos programas de triagem neonatal ou pelo teste do suor. Devido aos vários sistemas envolvidos e à variabilidade e cronicidade da doença, uma abordagem multidisciplinar é essencial para auxiliar o paciente e sua família a compreenderem a doença e aderirem ao tratamento. A terapia atual da fibrose cística inclui a manutenção do estado nutricional, a remoção das secreções das vias aéreas com fisioterapia e mucolíticos, o uso de antibióticos para prevenção e tratamento de infecções, a prescrição de suplementos energéticos, dietas hiperlípidicas e hiperprotéicas, bem como a suplementação de minerais e vitaminas lipossolúveis. O objetivo deste trabalho foi realizar breve revisão de literatura sobre os aspectos clínicos e nutricionais da fibrose cística.Cystic fibrosis is the most common, lethal, genetic disease in Caucasian populations and is characterized by chronic and recurrent lung infections, pancreatic insufficiency and high sweat chloride levels. It is an autosomal recessive hereditary disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene which induces the body to

  18. Fibrose pulmonar idiopática: uma década de progressos Idiopathic pulmonary fibrosis: a decade of progress

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    Jeffrey J. Swigris

    2006-06-01

    Full Text Available Embora diagnósticos de fibrose pulmonar idiopática continuem sendo devastadores, avanços recentes têm melhorado nossa compreensão a respeito de muitas das facetas desta doença. Estas descobertas, juntamente com o aumento da disponibilidade geral de ensaios terapêuticos, encerram a promessa de um futuro mais promissor para pacientes com fibrose pulmonar idiopática. Por exemplo, nós temos agora uma compreensão mais abrangente a respeito dos critérios diagnósticos e da história natural da doença. Vários estudos têm mostrado que a mensuração simples da fisiologia pulmonar ou troca gasosa pode ser usada para prever a sobrevida do paciente. Através da identificação de várias vias moleculares que têm papéis importantes na patogênese da fibrose pulmonar idiopática, os pesquisadores têm produzido uma lista crescente de possíveis novos alvos terapêuticos para a doença. Vários ensaios terapêuticos prospectivos e controlados têm sido realizados. Outros estão em andamento ou ainda estão em fase de planejamento. Estes esforços têm avançado nosso conhecimento atual sobre fibrose pulmonar idiopática e levantado novas questões importantes, assim como têm gerado o interesse e o impulso necessários para avançar terreno na luta contra esta doença desafiadora. Este artigo oferece ao leitor um panorama dos avanços recentes nas pesquisas sobre fibrose pulmonar idiopática, tendo como foco a história natural, patogênese e tratamento.Although idiopathic pulmonary fibrosis remains a devastating diagnosis, recent advances have improved our understanding of many facets of this disease. These breakthroughs, combined with the increased general availability of therapeutic trials, hold the promise of a brighter future for idiopathic pulmonary fibrosis patients. For example, we now have a more comprehensive understanding of the diagnostic criteria and natural history of the disease. Several studies have shown that simple

  19. Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD

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    Jennifer Hague

    2018-01-01

    Full Text Available Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD. NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotonia, irritability, vomiting and/or seizures. Symptoms in later life are often less specific and include malaise, dizziness, confusion, tiredness and headache. NSIAD is a rare X-linked condition, which is associated with a variable phenotype in males, of whom some present in infancy but others do not become symptomatic until adulthood, or occasionally, never. Female carriers may present with episodes of hyponatremia, usually found incidentally. Literature in this field is limited; namely, two clinical reports describing a female proband, both diagnosed in infancy. We describe, for the first time, the case of an adult female proband with NSIAD, who had longstanding associated symptoms of tiredness, headache, temporary memory loss and mood changes as well as hyponatremia and decreased serum osmolality. A water load test demonstrated an inability to dilute urine and gene sequencing confirmed a recurrent activating mutation in AVPR2. The variant was inherited from the proband’s mother who had had longstanding episodes of transient asymptomatic hyponatremia. This is the third report of a female proband with NSIAD and is the first female reported who sought medical treatment for chronic symptoms from adulthood. This case acts as a reminder of the importance of considering NSIAD as a diagnosis in females of all ages with unexplained hyponatremia.

  20. An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter.

    Science.gov (United States)

    Giri, Dinesh; Hart, Rachel; Jones, Caroline; Ellis, Ian; Ramakrishnan, Renuka

    2016-01-01

    Hereditary nephrogenic diabetes iInsipidus (HNDI) is an uncommon disorder due to a resistance to anti-diuretic hormone leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes. We report a mother and daughter in the same family with HNDI due to a heterozygous deletion in exon 1 of the AVPR2 gene, not previously described in the literature. A 5-year-old girl was referred for investigation of polyuria and polydipsia. The patient had a water deprivation test elsewhere at the age of 3 that was inconclusive. A degree of water restriction was imposed leading to headaches. The thyroid, cortisol, renal, and calcium profiles were normal. Her mother showed similar symptoms that had not been previously investigated. AQP2 (Aquaporin) and initial AVPR2 gene sequencing had not identified a mutation, but subsequent quantitative polymerase chain reaction analysis revealed a heterozygous large exon 1 deletion of the AVPR2 gene. The same deletion was also found in the child's mother. The patient's symptoms have significantly improved on appropriate treatment. Further analysis revealed skewed X inactivation in mother and daughter.

  1. Nephrogenic Diabetes Insipidus: Essential Insights into the Molecular Background and Potential Therapies for Treatment

    Science.gov (United States)

    Rittig, Søren

    2013-01-01

    The water channel aquaporin-2 (AQP2), expressed in the kidney collecting ducts, plays a pivotal role in maintaining body water balance. The channel is regulated by the peptide hormone arginine vasopressin (AVP), which exerts its effects through the type 2 vasopressin receptor (AVPR2). Disrupted function or regulation of AQP2 or the AVPR2 results in nephrogenic diabetes insipidus (NDI), a common clinical condition of renal origin characterized by polydipsia and polyuria. Over several years, major research efforts have advanced our understanding of NDI at the genetic, cellular, molecular, and biological levels. NDI is commonly characterized as hereditary (congenital) NDI, arising from genetic mutations in the AVPR2 or AQP2; or acquired NDI, due to for exmple medical treatment or electrolyte disturbances. In this article, we provide a comprehensive overview of the genetic, cell biological, and pathophysiological causes of NDI, with emphasis on the congenital forms and the acquired forms arising from lithium and other drug therapies, acute and chronic renal failure, and disturbed levels of calcium and potassium. Additionally, we provide an overview of the exciting new treatment strategies that have been recently proposed for alleviating the symptoms of some forms of the disease and for bypassing G protein-coupled receptor signaling. PMID:23360744

  2. Membrane Protein Stability Analyses by Means of Protein Energy Profiles in Case of Nephrogenic Diabetes Insipidus

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    Florian Heinke

    2012-01-01

    Full Text Available Diabetes insipidus (DI is a rare endocrine, inheritable disorder with low incidences in an estimated one per 25,000–30,000 live births. This disease is characterized by polyuria and compensatory polydypsia. The diverse underlying causes of DI can be central defects, in which no functional arginine vasopressin (AVP is released from the pituitary or can be a result of defects in the kidney (nephrogenic DI, NDI. NDI is a disorder in which patients are unable to concentrate their urine despite the presence of AVP. This antidiuretic hormone regulates the process of water reabsorption from the prourine that is formed in the kidney. It binds to its type-2 receptor (V2R in the kidney induces a cAMP-driven cascade, which leads to the insertion of aquaporin-2 water channels into the apical membrane. Mutations in the genes of V2R and aquaporin-2 often lead to NDI. We investigated a structure model of V2R in its bound and unbound state regarding protein stability using a novel protein energy profile approach. Furthermore, these techniques were applied to the wild-type and selected mutations of aquaporin-2. We show that our results correspond well to experimental water ux analysis, which confirms the applicability of our theoretical approach to equivalent problems.

  3. Effect of embelin on lithium-induced nephrogenic diabetes insipidus in albino rats

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    Ashish K Sahu

    2012-10-01

    Full Text Available Objective: To evaluate the nephroprotective and anti-polyuric role of embelin on lithium induced nephrogenic diabetes insipidus (NDI in albino rats. Methods: NDI induced by lithium chloride (4 meq/kg/day, i.p. for 6 days which leads to huge amount of urine excretion. After induction of NDI, embelin (50 and 100mg/kg was administered orally, once daily for 21 day in rats and N-acetyl cysteine (10mg/kg, twice daily, i.p. was used as a standard drug for treatment of NDI. The body weight, urine protein, urine creatinine, plasma creatinine, blood urea nitrogen were assessed at 0, 7, 14 and 21 day. At the end of the study glutathione (GSH content in kidney was assessed and histopathology of kidney was performed. Results: Embelin 50 and 100 mg/ kg showed increase in the body weight and decrease in plasma and urine creatinine, blood urea nitrogen levels, and urine protein level. Embelin acts as a potent antioxidant; it increases the level of glutathione in kidney. Histopathological examination of the kidney indicated that embelin 50 and 100 mg/kg were reduced the vascular degeneration of tubules as well as slight degeneration and dilatation of renal tubules, however N-actyl cysteine (NAC treated rats showed normal glomeruli and renal tubule with slight degeneration. Conclusions: Embelin seemed to be effective in NDI by its predominant effect on promoting antioxidant status and decrease the urine excretion may be due to the blocking of sodium channels.

  4. Pre- and post-treatment urinary tract findings in children with nephrogenic diabetes insipidus.

    Science.gov (United States)

    Caletti, María Gracia; Balestracci, Alejandro; Di Pinto, Diana

    2014-03-01

    Nephrogenic diabetes insipidus (NDI) is characterized by the kidney's inability to concentrate urine, which causes intense polyuria that may lead to urinary tract dilation. We report the morphological findings of the urinary tract in ten boys with NDI specifically addressing the presence and changes of urinary tract dilation during treatment. Patients were diagnosed at a median age of 1.6 years (range, 0.16-6.33 years) and treated with a low osmotic diet, hydrochlorothiazide-amiloride and indomethacin, which decreased the diuresis from a median of 10.5 ml/kg/h to 4.4 ml/kg/h (p < 0.001). Three patients showed normal renal ultrasound before treatment until last control, while the remaining seven showed urinary tract dilation. In this second group, dilation was reduced with treatment in four patients and disappeared in the remaining three. Children without dilation or in whom the dilation disappeared were diagnosed and treated earlier than those with persistent dilation (median 1.66 versus 4.45 years, respectively). After a median of 10.4 (range, 2.3-20.3) years of follow-up, no patients showed urological complications. Medical treatment of the disease improved the dilation in all cases, preventing its potential complications. Regardless of the good outcome of our patients, periodic urologic follow-up is recommended in NDI patients.

  5. Nephrogenic systemic fibrosis after application of gadolinium-based contrast agents - a status paper

    International Nuclear Information System (INIS)

    Heinrich, M.; Uder, M.

    2007-01-01

    Recently the association of a rare disease named ''nephrogenic systemic fibrosis'' (NSF) with the administration of gadolinium-containing contrast media, especially gadodiamide (Omniscan, GE-Healthcare), was described. NSF is a scleroderma-like disease characterised by widespread tissue fibrosis. Until now, NSF cases were observed only in patients with kidney disease. Almost all patients were suffering from chronic renal insufficiency, 90 % of them required renal replacement therapy. The true incidence of the disease is unknown. First retrospective analyses of selected collectives of patients with end-stage renal disease showed 2 - 5 % cases of NSF after administration of Gadolinium-containing contrast agents with an odds ratio of 20 - 50 in comparison to non-exposed controls. NSF is a serious adverse reaction, which may result in severe disabilities and even death. Therefore all radiologists applying gadolinium-based contrast agents should be informed about this disease and the recent recommendations for its prevention. On the basis of the published data, Omniscan should not be used in patients with severe renal impairment (GFR 2 ) and those who have had or are undergoing liver transplantation. In neonates and infants up to 1 year of age, Omniscan should only be used after careful consideration. Also the other gadolinium-based contrast agents should be used in high-risk patients only after careful consideration using the lowest dose possible

  6. Autophagic degradation of aquaporin-2 is an early event in hypokalemia-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Khositseth, Sookkasem; Uawithya, Panapat; Somparn, Poorichaya; Charngkaew, Komgrid; Thippamom, Nattakan; Hoffert, Jason D; Saeed, Fahad; Michael Payne, D; Chen, Shu-Hui; Fenton, Robert A; Pisitkun, Trairak

    2015-12-17

    Hypokalemia (low serum potassium level) is a common electrolyte imbalance that can cause a defect in urinary concentrating ability, i.e., nephrogenic diabetes insipidus (NDI), but the molecular mechanism is unknown. We employed proteomic analysis of inner medullary collecting ducts (IMCD) from rats fed with a potassium-free diet for 1 day. IMCD protein quantification was performed by mass spectrometry using a label-free methodology. A total of 131 proteins, including the water channel AQP2, exhibited significant changes in abundance, most of which were decreased. Bioinformatic analysis revealed that many of the down-regulated proteins were associated with the biological processes of generation of precursor metabolites and energy, actin cytoskeleton organization, and cell-cell adhesion. Targeted LC-MS/MS and immunoblotting studies further confirmed the down regulation of 18 selected proteins. Electron microscopy showed autophagosomes/autophagolysosomes in the IMCD cells of rats deprived of potassium for only 1 day. An increased number of autophagosomes was also confirmed by immunofluorescence, demonstrating co-localization of LC3 and Lamp1 with AQP2 and several other down-regulated proteins in IMCD cells. AQP2 was also detected in autophagosomes in IMCD cells of potassium-deprived rats by immunogold electron microscopy. Thus, enhanced autophagic degradation of proteins, most notably including AQP2, is an early event in hypokalemia-induced NDI.

  7. C14. Um caso de polimiosite, fibrose pulmonar e cancro do pulmão

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    Carlos Lopes

    2003-11-01

    Full Text Available Os autores apresentam o caso clínico de um doente do sexo masculino, de 67 anos, fumador (50 UMA. Trabalhou na marinha durante 30 anos, onde esteve exposto a fibras de asbestos.Aparentemente estável até aos 62 anos, altura em que refere início de quadro clínico de dispneia de esforço, de agravamento progressivo. Um ano depois episódio de febre, tosse produtiva e mialgias.Ao exame objectivo eram evidentes hipocratismo digital e fervores subcrepitantes em ambas as bases, na auscultação torácica.Os aspectos vizualizados na TC Torácica eram compatíveis com Pneumonia Intersticial Usual e o lavado broncoalveolar excluiu outras doenças.O estudo da função respiratória mostrou um síndrome restritivo com diminuição da capacidade de difusão do CO.Foi administrada terapêutica com Deflazacort, acetilcisteína e azatioprina. Devido a agravamento clínico e funcional, azatioprina foi substituída por ciclofosfamida. Dois anos depois foi iniciada terapêutica com Interferão Gamma 1b, com melhoria clínica e funcional, durante um ano.Foi então feito o diagnóstico de Polimiosite e recebeu terapêutica com imunoglobulina.Doze meses depois foi internado com quadro clínico de febre intermitente, tosse seca, dispneia de esforço de agravamento progressivo e mialgias. A TC Torácica revelou pulmão em favo e bronquiectasias. No lobo inferior esquerdo foi detectado um nódulo periférico. O doente foi submetido a biópsia aspirativa transtorácica, o padrão imunohistoquímico do tecido revelou Cancro do Pulmão de Pequenas Células. No estadiamento foram identificadas adenopatias hilares e mediastínicas e múltiplas metástases hepáticas. Apenas foi efectuada uma administração de quimioterapia (carboplatinum e etoposido, sem qualquer tipo de resposta. O doente faleceu duas semanas depois.Está documentada a associação de Polimiosite com várias Neoplasias, neste caso clínico, o doente desenvolveu fibrose pulmonar antes de ter sido feito

  8. Two different trichoscopic patterns of mid-frontal scalp in patients with frontal fibrosing alopecia and clinical features of androgenetic alopecia

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    Adriana Rakowska

    2017-03-01

    Full Text Available Introduction . Frontal fibrosing alopecia is a primary lymphocytic cicatricial alopecia with progressive frontotemporal hairline recession. In some cases, hair loss in the mid-frontal scalp, similar to female pattern hair loss, may be observed. Objective. Assessment of the trichoscopic pattern of mid-frontal scalp hair loss in patients diagnosed with frontal fibrosing alopecia. Material and methods. The retrospective analysis included 31 women diagnosed with frontal fibrosing alopecia and hair loss in the mid-frontal scalp and 36 women diagnosed with female pattern hair loss. Results . In patients with frontal fibrosing alopecia two different trichoscopic patterns in the mid-frontal scalp were identified. In 68% of patients (21/31 we observed a diffuse fibrotic pattern. It was characterized by irregular arrangement of follicular units with small areas with loss of follicular units, an increased percentage of follicular units with one hair and a decreased percentage of follicular units with three hairs, normal hair shaft thickness and presence of mild perifollicular scaling. The androgenetic alopecia pattern was present in 32% of patients (10/31. It was characterized by hair shaft thickness diversity (20% or more, a percentage of vellus hairs higher than 10%, presence of yellow dots, an increased percentage of follicular units with one hair and a decreased percentage of follicular units with three hairs. Conclusions. In patients with frontal fibrosing alopecia and coexisting mid-frontal scalp hair loss, we identified two different patterns of this area in trichoscopy: the diffuse fibrotic pattern (more common and the androgenetic alopecia pattern. This observation may have therapeutic and prognostic implications.

  9. COX2 inhibition during nephrogenic period induces ANG II hypertension and sex-dependent changes in renal function during aging.

    Science.gov (United States)

    Reverte, Virginia; Tapia, Antonio; Loria, Analia; Salazar, Francisco; Llinas, M Teresa; Salazar, F Javier

    2014-03-01

    This study was performed to test the hypothesis that ANG II contributes to the hypertension and renal functional alterations induced by a decrease of COX2 activity during the nephrogenic period. It was also examined whether renal functional reserve and renal response to volume overload and high sodium intake are reduced in 3-4- and 9-11-mo-old male and female rats treated with vehicle or a COX2 inhibitor during nephrogenic period (COX2np). Our data show that this COX2 inhibition induces an ANG II-dependent hypertension that is similar in male and female rats. Renal functional reserve is reduced in COX2np-treated rats since their renal response to an increase in plasma amino acids levels is abolished, and their renal ability to eliminate a sodium load is impaired (P renal excretory ability is similar in both sexes during aging but does not induce the development of a sodium-sensitive hypertension. However, the prolonged high-sodium intake at 9-11 mo of age leads to a greater proteinuria in male than in female (114 ± 12 μg/min vs. 72 ± 8 μg/min; P Renal hemodynamic sensitivity to acute increments in ANG II is unaltered in both sexes and at both ages in COX2np-treated rats. In summary, these results indicate that the reduction of COX2 activity during nephrogenic period programs for the development of an ANG II-dependent hypertension, reduces renal functional reserve to a similar extent in both sexes, and increases proteinuria in males but not in females when there is a prolonged increment in sodium intake.

  10. Fibrose quística em adultos Cystic fibrosis in adults

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    C Damas

    2007-05-01

    Full Text Available Os autores efectuaram uma revisão de doentes adultos com fibrose quística (FQ, seguidos na consulta de Pneumologia no período de 1994-2004 (n=8: cinco mulheres e três homens, com idades compreendidas entre 20 e 34 anos (mediana = 27 anos, cuja idade de diagnóstico variou entre os 18 meses e os 31 anos. O diagnóstico foi obtido por prova de suor (positiva em seis doentes e estudo genético (homozigotia para a mutação ÄF508 em quatro doentes. O atingimento respiratório traduziu-se por sinusite e bronquiectasias, acompanhando-se o envolvimento pulmonar por alterações funcionais e também gasométricas na maioria dos doentes, ainda que de gravidade variável e não relacionada com a idade de diagnóstico. Verificou-se colonização da árvore brônquica em cinco doentes: Pseudomonas aeruginosa em quatro e Staphilococcus aureus em quatro (verificando-se colonização concomitante por estes agentes em três. As principais causas de exacerbação foram infecções respiratórias e hemoptises. Quanto ao atingimento não respiratório, quatro doentes apresentavam envolvimento digestivo (com cirrose hepática num caso, um insuficiência renal em hemodiálise, e em apenas um foi efectuado espermograma para documentação de infertilidade. Quatro doentes tinham osteopenia documentada por densitometria óssea. As medidas terapêuticas mais utilizadas foram a cinesiterapia, os broncodilatadores, a alfa-dornase, mucolíticos, suplementos vitamínicos e enzimáticos, antibioterapia e oxigenoterapia. Relativamente à evolução, uma doente abandonou a consulta, uma doente faleceu, um doente aguardava transplante pulmonar e os restantes mantiveram as suas características clínicas habituais. Neste grupo, a gravidade da doença pulmonar não se relacionou com o diagnóstico mais tardio, o que se pode dever à diversidade de apresentação fenotípica da FQ na idade adulta.The authors reviewed adult cystic fibrosis patients followed in the Pulmonology

  11. Estado nutricional em pacientes atendidos por um programa de adultos para fibrose cística

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    Bruna Ziegler

    2008-02-01

    Full Text Available Introdução: Na fibrose cística (FC, o estado nutricional está associado com o crescimento, função pulmonar e índices de so-brevida. Objetivo: Avaliar o estado nutricional em adultos com FC e correlacionar com escore clínico, escore radiológico, pressões respiratórias estáticas máximas, capacidade submáxima de exercício e função pulmonar. Metodologia: O estudo realizado foi transver-sal e prospectivo, em pacientes (16 anos ou mais, atendidos em um programa para adultos com FC. Os pacientes foram submetidos a uma avaliação nutricional e clínica, ao teste de caminhada de seis minutos (TC6, à medida das pressões respiratórias máximas, a espirometria e exame radiológico do tórax. Resultados: O estudo incluiu 41 pacientes com media de idade de 23,7 ± 6,5 anos e média de índice de massa corporal (IMC de 20,2 ± 2,2 Kg/m2. Vinte e seis pacientes (63,4% foram classificados como bem nutridos (IMC = 21,7 ± 2,0 Kg/m2, 6 (14,6% como risco nutricional (IMC = 19,4 ± 0,5 Kg/m2 e 9 (22% como desnutridos (IMC = 17,6 ± 0,8 Kg/m2. Não houve correlação significativa entre IMC e a idade (r = 0,24; P = 0,13, idade do diagnóstico (r = -0,04; P = 0,81, escore clínico (r = 0,13; P = 0,40 e radiográfico (r = -0,22; P = 0,17, distância percorrida no TC6 (r = 0,20; P = 0,20, VEF1 % (r = 0,11; P = 0,50 e CVF % (r = 0,06; P = 0,72. Também não houve associação entre o declínio do estado nutricional e essas variáveis. Conclusão: Este estudo mos-trou que a maioria dos pacientes com FC (16 anos ou mais tem um adequado estado nutricional (63,4%, mas uma porcentagem signi-ficante (36,6% tem depleção nutricional. Não houve associação entre o estado nutricional e a função pulmonar, pressões respiratórias máximas, escore clínico e radiográfico e a capacidade submáxima de exercício.

  12. Uterine prolapse with endometrial eversion in association with an unusual diffuse, polypoid, fibrosing perimetritis and parametritis in a cat.

    Science.gov (United States)

    Valentine, Matthew J; Porter, Susan; Chapwanya, Aspinas; Callanan, John J

    2016-01-01

    This case describes a young non-pregnant cat that presented with uterine prolapse in association with an unusual diffuse, polypoid, fibrosing perimetritis and parametritis. Following ovariohysterectomy the cat recovered fully. No intra-abdominal complications were seen on ultrasound examination 3 months postsurgery. At the time of writing, the cat remains healthy. Uterine prolapse in the cat is relatively rare and usually associated with the periparturient period. Inflammatory polypoid perimetritis and parametritis have not previously been documented in cats, and in dogs have only been reported in association with the administration of oestrogenic compounds. The polypoid inflammation affecting the uterus and parametrium may have contributed to increased laxity of the uterine ligaments and predisposed to the development of uterine prolapse.

  13. Recurrent Pneumonia due to Fibrosing Mediastinitis in a Teenage Girl: A Case Report with Long-Term Follow-Up

    Directory of Open Access Journals (Sweden)

    Avigdor Hevroni

    2018-01-01

    Full Text Available A teenage girl was evaluated for recurrent right pneumonia. The evaluation revealed a calcified mediastinal mass that compressed the right intermediate and middle lobar bronchi, as well as the right pulmonary artery and veins. The clinical picture together with imaging studies and borderline positive serology testing suggested a diagnosis of fibrosing mediastinitis associated with histoplasmosis. This rare condition is characterized by the local proliferation of invasive fibrous tissue within the mediastinum due to a hyperimmune reaction to Histoplasma capsulatum. Antifungal and anti-inflammatory therapies are usually ineffective, and surgical intervention contains a high morbidity risk. Palliative surgery and stenting of the compressed airway have been suggested. In the past, the prognosis was thought to be poor, but recent studies demonstrate a more positive outcome. Our patient had been radiologically and functionally stable under follow-up for over thirteen years and has married and delivered two healthy children, both following an uneventful pregnancy.

  14. Nephrogenic systemic fibrosis: UK survey of the use of gadolinium-based contrast media

    International Nuclear Information System (INIS)

    Rees, O.; Agarwal, S.K.

    2010-01-01

    Aim: To identify the current practice of administration of gadolinium-based contrast media (Gd-CM) within the UK with respect to the European Society of Urogenital Radiology (ESUR) guidelines on nephrogenic systemic fibrosis (NSF). Materials and methods: One hundred and fifty-two institutions were contacted to request details regarding the use of Gd-CM at their institution, their awareness of NSF, and of the ESUR guidelines, and their departmental policy on the administration of Gd-CM agents associated with NSF (high-risk agents) in patients with diminished renal function. Results: Of the 100 institutions that replied, 72% used a cyclic agent as a first-line Gd-CM. The majority of institutions used more than one Gd-CM, and 57% used a high-risk Gd-CM. Seventy percent were aware of the ESUR guidelines, and of the 57% that used a high-risk Gd-CM, 9% did not check renal function at all prior to administration. The course of action of the remaining 48% was varied in patients with diminished renal function with some changing to a low-risk Gd-CM and others electing not to use Gd-CM at all. Five percent continued to use a high-risk Gd-CM with an estimated glomerular filtration rate <30 ml/min. Conclusion: The present survey shows that the majority of institutions use a low-risk Gd-CM as a first-line agent; however, a number of institutions do use a high-risk Gd-CM and their course of action for patients with diminished renal function is varied. Given current evidence, it is advisable to use a low-risk Gd-CM, such as a cyclic agent, in patients with diminished renal function.

  15. Fanconi's syndrome and nephrogenic diabetes insipidus in an adult treated with ifosfamide.

    Science.gov (United States)

    Ingemi, Amanda I; Bota, Vasile M; Peguero, Anyeri; Charpentier, Margaret

    2012-01-01

    Fanconi's syndrome is a serious condition characterized by type II proximal renal tubular dysfunction, with urinary loss of glucose, amino acids, phosphate, bicarbonate, and potassium. Ifosfamide-induced Fanconi's syndrome is reported in about 1.4-5% of children being treated for solid tumors, yet only a few cases have been reported in adults. We describe a 54-year-old man who came to the hospital with symptoms of neutropenic fever 4 days after his fourth cycle of ifosfamide and doxorubicin treatment for recurrent sarcoma with metastases to the lung. During admission, he was noted to have severe renal tubular dysfunction; ifosfamide-induced nephrogenic diabetes insipidus and Fanconi's syndrome were suspected. He received supportive therapy that resulted in incomplete resolution of signs and symptoms. The patient was discharged after a 5-day hospital stay when his white blood cell count increased from 0.1-2.5 × 10(3) /mm(3) and his fever had resolved. Use of the Naranjo adverse drug reaction probability scale indicated a probable relationship (score of 7) between the patient's development of diabetes insipidus and Fanconi's syndrome and his use of ifosfamide. This dual diagnosis of diabetes insipidus and Fanconi's syndrome in an adult makes this case unusual, as well as therapeutically challenging. We conducted a review of the existing literature regarding ifosfamide-induced Fanconi's syndrome and describe the proposed mechanisms and therapeutic options. This case suggests that patients treated with ifosfamide should be monitored closely for renal function to identify, and perhaps prevent, these rare adverse events. Preliminary animal models show promise for adding N-acetylcysteine to ifosfamide treatment, but more research is necessary before using this drug as a therapeutic option. © 2012 Pharmacotherapy Publications, Inc.

  16. Aliskiren increases aquaporin-2 expression and attenuates lithium-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Lin, Yu; Zhang, Tiezheng; Feng, Pinning; Qiu, Miaojuan; Liu, Qiaojuan; Li, Suchun; Zheng, Peili; Kong, Yonglun; Levi, Moshe; Li, Chunling; Wang, Weidong

    2017-10-01

    The direct renin inhibitor aliskiren has been shown to be retained and persist in medullary collecting ducts even after treatment is discontinued, suggesting a new mechanism of action for this drug. The purpose of the present study was to investigate whether aliskiren regulates renal aquaporin expression in the collecting ducts and improves urinary concentrating defect induced by lithium in mice. The mice were fed with either normal chow or LiCl diet (40 mmol·kg dry food -1 ·day -1 for 4 days and 20 mmol·kg dry food -1 ·day -1 for the last 3 days) for 7 days. Some mice were intraperitoneally injected with aliskiren (50 mg·kg body wt -1 ·day -1 in saline). Aliskiren significantly increased protein abundance of aquaporin-2 (AQP2) in the kidney inner medulla in mice. In inner medulla collecting duct cell suspension, aliskiren markedly increased AQP2 and phosphorylated AQP2 at serine 256 (pS256-AQP2) protein abundance, which was significantly inhibited both by adenylyl cyclase inhibitor MDL-12330A and by PKA inhibitor H89, indicating an involvement of the cAMP-PKA signaling pathway in aliskiren-induced increased AQP2 expression. Aliskiren treatment improved urinary concentrating defect in lithium-treated mice and partially prevented the decrease of AQP2 and pS256-AQP2 protein abundance in the inner medulla of the kidney. In conclusion, the direct renin inhibitor aliskiren upregulates AQP2 protein expression in inner medullary collecting duct principal cells and prevents lithium-induced nephrogenic diabetes insipidus likely via cAMP-PKA pathways. Copyright © 2017 the American Physiological Society.

  17. Prasugrel suppresses development of lithium-induced nephrogenic diabetes insipidus in mice.

    Science.gov (United States)

    Zhang, Yue; Peti-Peterdi, János; Brandes, Anna U; Riquier-Brison, Anne; Carlson, Noel G; Müller, Christa E; Ecelbarger, Carolyn M; Kishore, Bellamkonda K

    2017-06-01

    Previously, we localized ADP-activated P2Y 12 receptor (R) in rodent kidney and showed that its blockade by clopidogrel bisulfate (CLPD) attenuates lithium (Li)-induced nephrogenic diabetes insipidus (NDI). Here, we evaluated the effect of prasugrel (PRSG) administration on Li-induced NDI in mice. Both CLPD and PRSG belong to the thienopyridine class of ADP receptor antagonists. Groups of age-matched adult male B6D2 mice (N = 5/group) were fed either regular rodent chow (CNT), or with added LiCl (40 mmol/kg chow) or PRSG in drinking water (10 mg/kg bw/day) or a combination of LiCl and PRSG for 14 days and then euthanized. Water intake and urine output were determined and blood and kidney tissues were collected and analyzed. PRSG administration completely suppressed Li-induced polydipsia and polyuria and significantly prevented Li-induced decreases in AQP2 protein abundance in renal cortex and medulla. However, PRSG either alone or in combination with Li did not have a significant effect on the protein abundances of NKCC2 or NCC in the cortex and/or medulla. Immunofluorescence microscopy revealed that PRSG administration prevented Li-induced alterations in cellular disposition of AQP2 protein in medullary collecting ducts. Serum Li, Na, and osmolality were not affected by the administration of PRSG. Similar to CLPD, PRSG administration had no effect on Li-induced increase in urinary Na excretion. However, unlike CLPD, PRSG did not augment Li-induced increase in urinary arginine vasopressin (AVP) excretion. Taken together, these data suggest that the pharmacological inhibition of P2Y 12 -R by the thienopyridine group of drugs may potentially offer therapeutic benefits in Li-induced NDI.

  18. Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Kamsteeg, E.J.; Stoffels, M.; Tamma, G.; Siemerink-Konings, I.B.M.; Deen, P.M.T.

    2009-01-01

    Regulation of body water homeostasis occurs by the vasopressin-dependent sorting of aquaporin-2 (AQP2) water channels to and from the apical membrane of renal principal cells. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease that renders the kidney unresponsive to

  19. High prevalence of nephrogenic systemic fibrosis in chronic renal failure patients exposed to gadodiamide, a gadolinium-containing magnetic resonance contrast agent

    DEFF Research Database (Denmark)

    Rydahl, Casper; Thomsen, Henrik S; Marckmann, Peter

    2008-01-01

    OBJECTIVE: Nephrogenic systemic fibrosis (NSF) is a serious disease affecting renal failure patients. It may be caused by some gadolinium (Gd)-containing contrast agents, including gadodiamide. The study aimed at estimating the prevalence of NSF after gadodiamide exposure for patients with chronic...

  20. Relação entre Fibrose e Arritmias Ventriculares na Cardiopatia Chagásica sem Disfunção Ventricular

    OpenAIRE

    Eduardo Marinho Tassi; Marcelo Abramoff Continentino; Emília Matos do Nascimento; Basílio de Bragança Pereira; Roberto Coury Pedrosa

    2014-01-01

    Fundamento: Pacientes com doença de Chagas com alteração segmentar apresentam pior prognóstico independentemente da fração de ejeção ventricular esquerda. A ressonância magnética cardíaca é atualmente o melhor método para detecção de alteração segmentar e para avaliação de fibrose miocárdica. Objetivo: Quantificar a fibrose, por meio do realce tardio, pela ressonância magnética cardíaca, em pacientes com doença de Chagas com fração de ejeção ventricular esquerda preservada ou minimamente ...

  1. O luto pela perda da saúde: vivências de ser mãe de uma criança com Fibrose Cística

    OpenAIRE

    ALMEIDA, Nancy Limeira de

    2012-01-01

    Este estudo tem por objetivo compreender como as mães da criança com Fibrose Cística (FC) vivenciam o luto pela perda da saúde do seu filho, considerando que esta ocorrência representa uma ameaça de morte continua à vida da criança, quando da ausência da adesão do tratamento. A Fibrose Cística é uma doença crônica, genética, sem cura e potencialmente letal, com prognóstico reservado, que demanda tratamento de alto impacto e intenso cuidado. A estratégia metodológica fundamen...

  2. Diabetes melito: uma importante co-morbidade da fibrose cística Diabetes mellitus in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Crésio de Aragão Dantas Alves

    2007-04-01

    Full Text Available Diabetes melito relacionado à fibrose cística (DMFC é a principal complicação extrapulmonar da fibrose cística. Atualmente, ele afeta 15-30% dos adultos com fibrose cística e sua prevalência tende a aumentar com o aumento da expectativa de vida desses pacientes. Esse trabalho tem por objetivo rever a fisiopatologia, morbidade, manifestações clínicas, diagnóstico e tratamento do DMFC. Uma pesquisa bibliográfica utilizou os bancos de dados Medline e Literatura Latino-Americana e do Caribe em Ciências da Saúde, selecionando artigos publicados nos últimos vinte anos. A insulinopenia secundária à destruição de células beta pancreáticas é o principal mecanismo causal, embora a resistência insulínica também possa estar presente. O DMFC apresenta características do diabetes melito tipo 1 e tipo 2 e tem início, em média, aos 20 anos de idade. Ele pode cursar com hiperglicemia em jejum, pós-prandial ou intermitente. As alterações do metabolismo glicêmico agravam o estado nutricional, aumentam a morbidade, diminuem a sobrevida e pioram a função pulmonar. As complicações microvasculares estão presentes, porém raramente observam-se as macrovasculares. A triagem para o DMFC deve ser anual, a partir dos 10 anos de idade, através do teste de tolerância oral à glicose e, em qualquer faixa etária, se houver perda ponderal inexplicada ou sintomatologia de diabetes. Pacientes hospitalizados também devem ser investigados e receber terapia insulínica se a hiperglicemia em jejum persistir além de 48 h. A insulina é o tratamento de escolha para o diabetes com hiperglicemia em jejum. Não existe consenso quanto ao tratamento do diabetes intermitente ou sem hiperglicemia de jejum. Não há orientações de restrições alimentares. O acompanhamento deve ser multidisciplinar.Cystic fibrosis-related diabetes (CFRD is the principal extra-pulmonary complication of cystic fibrosis, occurring in 15-30% of adult cystic fibrosis

  3. Low vascularization of the nephrogenic zone of the fetal kidney suggests a major role for hypoxia in human nephrogenesis.

    Science.gov (United States)

    Gerosa, C; Fanni, D; Faa, A; Van Eyken, P; Ravarino, A; Fanos, V; Faa, G

    2017-09-01

    CD31 reactivity is generally utilized as a marker of endothelial cells. CD31 immunoreactivity in the developing human kidney revealed that fetal glomerular capillary endothelial cells change their immunohistochemical phenotype during maturation. The aim of this study was to analyze CD31 reactivity in the fetal human kidney in the different stages of intrauterine development: We observed different distribution of CD31-reactive vascular progenitors in the different areas of the developing kidney. In particular, the nephrogenic zone and the renal capsule were characterized by a scarcity of CD31-reactive cells at all gestational ages. These data suggest the hypothesis that nephrogenesis does not need high oxygen levels and confirms a major role of hypoxia in nephrogenesis.

  4. Dermal inorganic gadolinium concentrations: evidence for in vivo transmetallation and long-term persistence in nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Abraham, J L; Thakral, C; Skov, L

    2008-01-01

    BACKGROUND: Gadolinium (Gd)-based magnetic resonance contrast agents (GBMCA), including gadodiamide, have been identified as the probable causative agents of the serious disease, nephrogenic systemic fibrosis (NSF). OBJECTIVES: To investigate retained Gd-containing deposits in skin biopsies from...... patients with NSF and to determine their relative concentrations over time from administration of GBMCA. METHODS: An investigator-blinded retrospective study, analysing 43 skin biopsies from 20 patients with gadodiamide-related NSF and one NSF-negative gadodiamide-exposed dialysis patient, ranging from 16...... days to 1991 days after Gd contrast dose. Utilizing automated quantitative scanning electron microscopy/energy-dispersive X-ray spectroscopy we determined the concentration of Gd and associated elements present as insoluble deposits in situ in the tissues. RESULTS: We detected Gd in skin lesions of all...

  5. Nephrogenic systemic fibrosis and class labeling of gadolinium-based contrast agents by the Food and Drug Administration.

    Science.gov (United States)

    Yang, Lucie; Krefting, Ira; Gorovets, Alex; Marzella, Louis; Kaiser, James; Boucher, Robert; Rieves, Dwaine

    2012-10-01

    In 2007, the Food and Drug Administration requested that manufacturers of all approved gadolinium-based contrast agents (GBCAs), drugs widely used in magnetic resonance imaging, use nearly identical text in their product labeling to describe the risk of nephrogenic systemic fibrosis (NSF). Accumulating information about NSF risks led to revision of the labeling text for all of these drugs in 2010. The present report summarizes the basis and purpose of this class-labeling approach and describes some of the related challenges, given the evolutionary nature of the NSF risk evidence. The class-labeling approach for presentation of product risk is designed to decrease the occurrence of NSF and to enhance the safe use of GBCAs in radiologic practice. © RSNA, 2012.

  6. A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.

    Science.gov (United States)

    Schernthaner-Reiter, Marie Helene; Adams, David; Trivellin, Giampaolo; Ramnitz, Mary Scott; Raygada, Margarita; Golas, Gretchen; Faucz, Fabio R; Nilsson, Ola; Nella, Aikaterini A; Dileepan, Kavitha; Lodish, Maya; Lee, Paul; Tifft, Cynthia; Markello, Thomas; Gahl, William; Stratakis, Constantine A

    2016-05-01

    X-linked nephrogenic diabetes insipidus (NDI, OMIM#304800) is caused by mutations in the arginine vasopressin (AVP, OMIM*192340) receptor type 2 (AVPR2, OMIM*300538) gene. A 20-month-old boy and his 8-year-old brother presented with polyuria, polydipsia, and failure to thrive. Both boys demonstrated partial DDAVP (1-desamino-8-D AVP or desmopressin) responses; thus, NDI diagnosis was delayed. While routine sequencing of AVPR2 showed a potential splice site variant, it was not until exome sequencing confirmed the AVPR2 splice site variant and did not reveal any more likely candidates that the patients' diagnosis was made and proper treatment was instituted. Both patients were hemizygous for two AVPR2 variants predicted in silico to affect AVPR2 messenger RNA (mRNA) splicing. A minigene assay revealed that the novel AVPR2 c.276A>G mutation creates a novel splice acceptor site leading to 5' truncation of AVPR2 exon 2 in HEK293 human kidney cells. Both patients have been treated with high-dose DDAVP with a remarkable improvement of their symptoms and accelerated linear growth and weight gain. We present here a unique case of partial X-linked NDI due to an AVPR2 splice site mutation; patients with diabetes insipidus of unknown etiology may harbor splice site mutations that are initially underestimated in their pathogenicity on sequence analysis. • X-linked nephrogenic diabetes insipidus is caused by AVPR2 mutations, and disease severity can vary depending on the functional effect of the mutation. What is New: • We demonstrate here that a splice site mutation in AVPR2 leads to partial X-linked NDI in two brothers. • Treatment with high-dose DDAVP led to improvement of polyuria and polydipsia, weight gain, and growth.

  7. Relação entre Fibrose e Arritmias Ventriculares na Cardiopatia Chagásica sem Disfunção Ventricular

    Directory of Open Access Journals (Sweden)

    Eduardo Marinho Tassi

    2014-06-01

    Full Text Available Fundamento: Pacientes com doença de Chagas com alteração segmentar apresentam pior prognóstico independentemente da fração de ejeção ventricular esquerda. A ressonância magnética cardíaca é atualmente o melhor método para detecção de alteração segmentar e para avaliação de fibrose miocárdica. Objetivo: Quantificar a fibrose, por meio do realce tardio, pela ressonância magnética cardíaca, em pacientes com doença de Chagas com fração de ejeção ventricular esquerda preservada ou minimamente comprometida (> 45% e detectar padrões de dependência entre fibrose, alteração segmentar e fração de ejeção ventricular esquerda na presença de arritmia ventricular. Métodos: Foram realizados eletrocardiograma, teste ergométrico, Holter e ressonância magnética cardíaca em 61 pacientes, separados em três grupos: (1 eletrocardiograma normal e ressonância magnética cardíaca sem alteração segmentar; (2 eletrocardiograma alterado e ressonância magnética cardíaca sem alteração segmentar; e (3 ressonância magnética cardíaca com alteração segmentar independentemente de alteração no eletrocardiograma. Resultados: O número de pacientes com arritmia ventricular em relação ao número total de pacientes em cada grupo, a porcentagem de fibrose e a fração de ejeção ventricular esquerda foram, respectivamente: no primeiro grupo, 4/26, 0,74% e 74,34%; no segundo grupo, 4/16, 3,96% e 68,5%; e no terceiro grupo, 11/19, 14,07% e 55,59%. Arritmia ventricular foi encontrada em 31,1% dos pacientes. Aqueles com e sem arritmia ventricular apresentaram fração de ejeção ventricular esquerda média de 59,87% e 70,18%, respectivamente, e fibrose de 11,03% e 3,01%, respectivamente. Das variáveis alteração segmentar, grupos, idade, fração de ejeção ventricular esquerda e fibrose, a última foi a única significativa para a presença de arritmia ventricular, com ponto de corte de 11,78% para massa fibrosada (p < 0

  8. Frontal fibrosing alopecia: possible association with leave-on facial skin care products and sunscreens; a questionnaire study.

    Science.gov (United States)

    Aldoori, N; Dobson, K; Holden, C R; McDonagh, A J; Harries, M; Messenger, A G

    2016-10-01

    Since its first description in 1994, frontal fibrosing alopecia (FFA) has become increasingly common, suggesting that environmental factors are involved in the aetiology. To identify possible causative environmental factors in FFA. A questionnaire enquiring about exposure to a wide range of lifestyle, social and medical factors was completed by 105 women with FFA and 100 age- and sex-matched control subjects. A subcohort of women with FFA was patch tested to an extended British standard series of allergens. The use of sunscreens was significantly greater in the FFA group compared with controls. Subjects with FFA also showed a trend towards more frequent use of facial moisturizers and foundations but, compared with controls, the difference in frequencies just failed to reach statistical significance. The frequency of hair shampooing, oral contraceptive use, hair colouring and facial hair removal were significantly lower in the FFA group than in controls. Thyroid disease was more common in subjects with FFA than controls and there was a high frequency of positive patch tests in women with FFA, mainly to fragrances. Our findings suggest an association between FFA and the use of facial skin care products. The high frequency of sunscreen use in patients with FFA, and the fact that many facial skin care products now contain sunscreens, raises the possibility of a causative role for sunscreen chemicals. The high frequency of positive patch tests in women with FFA and the association with thyroid disease may indicate a predisposition to immune-mediated disease. © 2016 British Association of Dermatologists.

  9. A intersubjetividade no contexto da família de pessoas com fibrose cística

    Directory of Open Access Journals (Sweden)

    Geisa Santos Luz

    2012-04-01

    Full Text Available Trata-se de uma investigação qualitativa, com aproximação fenomenológica, que objetivou desvelar os processos intersubjetivos no contexto da família de pessoas com Fibrose Cística (FC. Desenvolveu-se entrevista com 14 famílias com portadores de FC, cadastrados na Associação Paranaense de Assistência à Mucoviscidose (AAMPR, residentes nas regiões Norte e Noroeste do estado do Paraná (PR, Brasil. Das suas falas foram apreendidas unidades de significado, agrupadas em três categorias: Família, portador de FC e o outro; Aspectos religiosos na vivência da FC na família; Portador de FC na vida escolar, afetiva e profissional. Os resultados evidenciaram que a experiência das famílias compartilhada com o outro foi crucial para o enfrentamento da doença. Conhecer os processos intersubjetivos que perpassam o âmago da família de pessoas acometidas pela FC possibilita um novo modo de atuar em Enfermagem.

  10. Idiopathic Fanconi's syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets--a case report and review of literature.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-01-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and a child mainly presents with dehydration and hypernatremia. We report the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus (NDI) in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi's syndrome. We hypothesized that the NDI may be due to severe hypokalemia induced tubular dysfunction. The child was treated for hypophosphatemic rickets with severe metabolic acidosis and the treatment for NDI was also given. Now he has healed rickets and normal blood pH, sodium and osmolarity.

  11. A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2014-05-01

    Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and children mainly present with dehydration and hypernatremia. We are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us with vitamin D resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus (NDI) associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to to severe hypokalemia induced tubular dysfunction.

  12. O impacto da fibrose cística no perfil imunológico de pacientes pediátricos

    Directory of Open Access Journals (Sweden)

    Daniela M. Bernardi

    2013-02-01

    Full Text Available OBJETIVO: Comparar o estado imunológico de 44 pacientes pediátricos com fibrose cística (FCa umgrupo-controle formado por 16 indivíduos saudáveis. MÉTODOS: Foram selecionados para o estudo pacientes com FC com idade entre 3 e 12 anos, apresentando um escore clínico moderado e bom. Foram avaliados a glutationa eritrocitária, a produção de espécies reativas de oxigênio, citocinas (TNF-α, IFN-γ, IL-8, IL-6, IL-10 em culturas de células mononucleares do sangue periférico em condições espontâneas e estimuladas por BCG ou PHA, a concentração sérica de TGF-β2, IgA, IgG, IgM, IgE e IgA salivar. RESULTADOS :A produção espontânea de TNF-α, IL-6 e IL-10, a produção de IL-6 estimulada por PHA e TGF-β2, IgA e IgG séricas aumentaram em amostras de pacientes com FC. Indivíduos saudáveis tiveram uma produção mais elevada de TNF-α em resposta a BCG. CONCLUSÃO: Apesar de os pacientes com FC parecerem clinicamente estáveis, os resultados de seus exames de sangue periférico mostraram que houve um impacto sobre o sistema imunológico.

  13. Exacerbação aguda da fibrose pulmonar idiopática Acute exacerbation of idiopathic pulmonary fibrosis

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    Natália Melo

    2009-03-01

    Full Text Available Alguns doentes com fibrose pulmonar idiopática (FPI apresentam durante a sua evolução fases deagravamento clínico sem causa conhecida, designadas como “exacerbação aguda” ou “fase acelerada” da doença (EA. Caracterizam -se pelo agravamento marcado da dispneia, hipoxemia e pelo aparecimento de novas opacidades pulmonares ou pelo agravamento das já existentes no estudo imagiológico. Os achados histológicos típicos são o dano alveolar difuso (DAD sobreposto a alterações de pneumonia intersticial usual (UIP. Esta entidade clínica associa -se a uma mortalidade elevada, não havendo até ao momento nenhuma terapêutica de comprovada eficácia. Os autores descrevem os casos clínicos de cinco doentes que apresentaram alterações clínicas, funcionais e radiológicas sugestivas de EA-FPI, assim como o tratamento efectuado e a evolução observada, enquadrando-os na discussão das características normalmente apresentadas por esta entidade.Some patients with Idiopathic Pulmonary Fibrosis (IPF have disease accelerated deterioration without identifiable cause referred as “acute exacerbation” or “accelerated stage”. It is characterized by severe worsening of dyspnea, hypoxemia and new or progressive opacities on imaging studies. The typical histological findings are diffuse alveolar damage in addition to the features of usual interstitial pneumonia pattern. Mortality in this clinical entity is very high and no efficacious therapeutic have been described. The authors describe the clinical, functional and radiological features, treatment and evolution of five patients with IPF acute exacerbation. A discussion will be carry out concerning the IPF acute exacerbation usual features comparing with the alterations noticed in those patients.

  14. Combination of secretin and fluvastatin ameliorates the polyuria associated with X-linked nephrogenic diabetes insipidus in mice.

    Science.gov (United States)

    Procino, Giuseppe; Milano, Serena; Carmosino, Monica; Barbieri, Claudia; Nicoletti, Maria C; Li, Jian H; Wess, Jürgen; Svelto, Maria

    2014-07-01

    X-linked nephrogenic diabetes insipidus (X-NDI) is a disease caused by inactivating mutations of the vasopressin (AVP) type 2 receptor (V2R) gene. Loss of V2R function prevents plasma membrane expression of the AQP2 water channel in the kidney collecting duct cells and impairs the kidney concentration ability. In an attempt to develop strategies to bypass V2R signaling in X-NDI, we evaluated the effects of secretin and fluvastatin, either alone or in combination, on kidney function in a mouse model of X-NDI. The secretin receptor was found to be functionally expressed in the kidney collecting duct cells. Based on this, X-NDI mice were infused with secretin for 14 days but urinary parameters were not altered by the infusion. Interestingly, secretin significantly increased AQP2 levels in the collecting duct but the protein primarily accumulated in the cytosol. Since we previously reported that fluvastatin treatment increased AQP2 plasma membrane expression in wild-type mice, secretin-infused X-NDI mice received a single injection of fluvastatin. Interestingly, urine production by X-NDI mice treated with secretin plus fluvastatin was reduced by nearly 90% and the urine osmolality was doubled. Immunostaining showed that secretin increased intracellular stores of AQP2 and the addition of fluvastatin promoted AQP2 trafficking to the plasma membrane. Taken together, these findings open new perspectives for the pharmacological treatment of X-NDI.

  15. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

    Science.gov (United States)

    Bichet, Daniel G; Bockenhauer, Detlef

    2016-03-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

  16. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.

    Science.gov (United States)

    Guo, Wei-Hong; Li, Qiang; Wei, Hong-Yan; Lu, Hong-Yan; Qu, Hui-Qi; Zhu, Mei

    2016-10-01

    Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 ( AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symptoms. The proband was diagnosed with diabetes insipidus using a water-deprivation and arginine vasopressin stimulation test. Genomic DNA from the patient and his family members was extracted and the AVPR2 gene was sequenced. A novel missense mutation of a cytosine to guanine transition at position 972 (c.972C > G) was found, which resulted in the substitution of isoleucine for methionine at amino acid position 324 (p.I324M) in the seventh transmembrane domain of the protein. The proband's mother and daughter were heterozygous for this mutation. The novel mutation of the AVPR2 gene further broadens the phenotypic spectrum of the AVPR2 gene.

  17. Nephrogenic Systemic Fibrosis Risk After Liver Magnetic Resonance Imaging With Gadoxetate Disodium in Patients With Moderate to Severe Renal Impairment

    Science.gov (United States)

    Lauenstein, Thomas; Ramirez-Garrido, Francisco; Kim, Young Hoon; Rha, Sung Eun; Ricke, Jens; Phongkitkarun, Sith; Boettcher, Joachim; Gupta, Rajan T.; Korpraphong, Pornpim; Tanomkiat, Wiwatana; Furtner, Julia; Liu, Peter S.; Henry, Maren; Endrikat, Jan

    2015-01-01

    Objective The objective of this study was to assess the risk of gadoxetate disodium in liver imaging for the development of nephrogenic systemic fibrosis (NSF) in patients with moderate to severe renal impairment. Materials and Methods We performed a prospective, multicenter, nonrandomized, open-label phase 4 study in 35 centers from May 2009 to July 2013. The study population consisted of patients with moderate to severe renal impairment scheduled for liver imaging with gadoxetate disodium. All patients received a single intravenous bolus injection of 0.025-mmol/kg body weight of liver-specific gadoxetate disodium. The primary target variable was the number of patients who develop NSF within a 2-year follow-up period. Results A total of 357 patients were included, with 85 patients with severe and 193 patients with moderate renal impairment, which were the clinically most relevant groups. The mean time period from diagnosis of renal disease to liver magnetic resonance imaging (MRI) was 1.53 and 5.46 years in the moderate and severe renal impairment cohort, respectively. Overall, 101 patients (28%) underwent additional contrast-enhanced MRI with other gadolinium-based MRI contrast agents within 12 months before the start of the study or in the follow-up. No patient developed symptoms conclusive of NSF within the 2-year follow-up. Conclusions Gadoxetate disodium in patients with moderate to severe renal impairment did not raise any clinically significant safety concern. No NSF cases were observed. PMID:25756684

  18. Condutividade e teste quantitativo coulométrico na triagem neonatal para fibrose cística

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    Mouseline Torquato Domingos

    2015-12-01

    Full Text Available Resumo Objetivo Comparar os resultados obtidos no teste do suor pelo método da condutividade e a dosagem coulométrica de cloreto no suor em recém0nascidos (RN suspeitos da triagem neonatal para fibrose cística (FC. Métodos O teste do suor foi feito simultaneamente pelos dois métodos em crianças com e sem FC. Os valores de corte para confirmar FC foram na condutividade > 50 mmol/L e no teste coulométrico > 60 mmol/L. Resultados Fizeram o teste do suor por condutividade e dosagem coulométrica simultaneamente 444 RN sem FC (185 do sexo masculino, 234 do feminino e 24 não informado e obtiveram resultado mediano de 32 mmol/L e 12 mmol/L respectivamente. Para os noventa RN com FC os valores medianos de condutividade e dosagem coulométrica foram 108 mmol/L e 97 mmol/L respectivamente. O índice de falso positivo para condutividade foi de 16,7% e em todos os pacientes FC foi superior a 50 mmol/L, o que confere ao método 100% de sensibilidade (IC 95% = 93,8 a 97,8, especificidade de 96,2% (IC 95% = 93,8 a 97,8, valor preditivo positivo 83,3 (IC 95% = 74,4 a 91,1, valor preditivo negativo 100% (IC 95% = 90,5 a 109,4 e acurácia 9,8%. A correlação entre os métodos foi de r = 0,97 (p > 0,001.O melhor valor de corte sugerido foi de 69,0 mmol/L, coeficiente de kappa = 0,89. Conclusão O teste da condutividade apresentou excelente correlação com o quantitativo coulométrico, alta sensibilidade e especificidade e pode ser usado no diagnóstico da FC em crianças detectadas pela triagem neonatal.

  19. Stigma and cystic fibrosis Estigma y fibrosis cística Estigma e fibrose c��stica

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    Tainá Maues Peluci Pizzignacco

    2010-02-01

    Full Text Available Cystic Fibrosis (CF, also known as Mucoviscidosis, is a chronic disease of autosomal recessive origin and so far incurable. This analysis considers some characteristics of patients and family members that indicate it is a stigmatizing disease. The CF stigma’s impact on the lives of children and adolescents can affect treatment adherence, socialization, family relationships and the formation of their life histories, with direct consequences on their quality of life.La fibrosis cística (FC, también conocida como mucoviscidosis, es una enfermedad crónica de origen autosómica recesiva y, hasta el momento, incurable. La presente reflexión presenta consideraciones a respecto de algunas características que acompañan a pacientes y familiares, permitiendo comprenderla como enfermedad que estigmatiza. Las repercusiones del estigma en la vida de niños y adolescentes con FC pueden interferir en la adhesión al tratamiento, en el proceso de socialización, en la relación con los familiares y en la formación de su biografía, con reflejo directo en la calidad de vida.A fibrose cística (FC, também conhecida como mucoviscidose, é doença crônica de origem autossômica recessiva e, até o momento, incurável. A presente reflexão traz considerações a respeito de algumas características que acompanham pacientes e familiares, permitindo compreendê-la como doença estigmatizante. As repercussões do estigma na vida de crianças e adolescentes com FC podem implicar na adesão ao tratamento, no processo de socialização, na relação com os familiares e na formação de sua biografia, com reflexo direto em sua qualidade de vida.

  20. Fibrose cardíaca associada à intoxicação por Amorimia septentrionalis em bovinos

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    Samuel S.C. Albuquerque

    2014-05-01

    Full Text Available Amorimia septentrionalis contém monofluoracetato de sódio e quando consumida por ruminantes provoca morte súbita. Este estudo teve o objetivo de relatar a epidemiologia, os sinais clínicos e patológicos de surtos de morte súbita em bovinos provocadas por Amorimia septentrionalis nos Estados de Pernambuco e Paraíba. Para isso, realizaram-se visitas técnicas em diversas propriedades nas Microrregiões do Médio Capibaribe/PE e Itabaiana/PB. Oito bovinos foram necropsiados. Coletaram-se tecidos das cavidades abdominal e torácica, além do encéfalo e medula espinhal. As alterações clínicas consistiram em lentidão, decúbito esternal prolongado, relutância em se movimentar quando em estação, cansaço, taquipneia, taquicardia e pulso venoso positivo. Os bovinos que foram forçados a se movimentar apresentaram instabilidade, tremores musculares e queda repentina seguida de vocalizações, movimentos de pedalagem e morte súbita em cerca de 5 a 7 minutos. As principais alterações macroscópicas consistiram em edema pulmonar, coração com aspecto globular com áreas esbranquiçadas, petéquias e equimoses no epicárdio, miocárdio e músculos papilares. À microscopia observou-se aumento da eosinofilia do citoplasma dos cardiomiócitos, núcleos picnóticos, cariorrexia, cariólise, perda das estriações, edema intersticial, infiltrado inflamatório intersticial mononuclear e áreas multifocais de fibrose cardíaca. Nos rins, constatou-se degeneração hidrópico vacuolar e necrose das células epiteliais em túbulos contorcidos. Os sinais clínicos foram semelhantes aos sinais clínicos já descritos em bovinos por plantas que contém MFA. As lesões macro e microscópicas descritas no coração e rins são de grande valor diagnóstico. A. septentrionalis é a principal planta tóxica de interesse pecuário nas microrregiões do Médio Capibaribe e Itabaiana devido às perdas econômicas diretas e indiretas que provoca na pecu

  1. Fibrose Cística: Análise da Coorte de 10 Anos de um Programa para Adultos

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    Paulo de Tarso Roth Dalcin

    2011-07-01

    Full Text Available Introdução: A fibrose cística (FC que já foi considerada doença da criança é agora doença do adulto e requer programa para adultos. Objetivo: definir características clínicas de uma coorte de 10 anos de um programa para adultos com FC e determinar as características associadas com desfechos clínicos. Métodos: coorte retrospectiva de pacientes com FC (idade ≥ 10 anos atendida pelo Programa para Adultos do Hospital de Clínicas de Porto Alegre, de outubro de 1998 a outubro de 2008. Foram coletados dados demográficos, dados clínicos, status nutricional, função pulmonar, testes laboratoriais e microbiologia do escarro. Foram definidos como desfechos clínicos: sobrevivência, sobrevivência com transplante pulmonar e óbito. Resultados: foram atendidos 94 pacientes pelo programa para adultos. A média de idade foi 24,0±7,4 anos e a média do volume expiratório forçado no primeiro segundo (VEF1 foi 56,4±28,8%. Setenta e sete pacientes foram sobreviventes, 6 sobreviventes com transplante pulmonar e 11 morreram. Na análise univariada, etnia caucasiana (p=0,016, mutação F508del (p=0,04, escore clínico (p<0,001, índice de massa corporal (p<0,001,  oxigenoterapia (p<0,001, capacidade vital forçada (p=0,023 e VEF1 (p<0,001 se associaram com os desfechos clínicos. A análise de regressão logística identificou fatores associados com desfecho precário: VEF1 (RC=0,.72, ICI=0,54-0,94, p=0,017 e escore clínico  (RC = 0,70, IC=0,50-0,97, p = 0,034. Insuficiência respiratória crônica exacerbada por infecção respiratória aguda foi causa imediata de morte na maioria dos casos. Conclusão: Este estudo descreveu uma coorte de 94 pacientes com FC atendidos por um programa de adultos. VEF1 e escore clinico se associaram com os desfechos clínicos.

  2. Fibrose cística no adulto: aspectos diagnósticos e terapêuticos Cystic fibrosis in adults: diagnostic and therapeutic aspects

    Directory of Open Access Journals (Sweden)

    Paulo de Tarso Roth Dalcin

    2008-02-01

    Full Text Available A fibrose cística, que já foi considerada uma doença da infância, é agora também uma doença do adulto. O aumento da longevidade resultou em mais problemas médicos relacionados com a idade e com a própria doença. O crescente número de adultos com fibrose cística resultou em aumento da necessidade de cuidados médicos. Essa necessidade tem sido suprida por um crescente número de pneumologistas de adultos e outros especialistas. O objetivo dessa revisão é sumarizar o conhecimento corrente sobre o diagnóstico e tratamento no adulto com fibrose cística. Na maioria dos casos, o diagnóstico é sugerido por manifestações de doença sinopulmonar crônica e insuficiência pancreática exócrina, e, então, confirmado por um teste do suor positivo. Pacientes adultos podem, entretanto, apresentar suficiência pancreática e características clínicas atípicas, às vezes, associadas com teste do suor normal ou limítrofe. Em tais casos, a possibilidade de realizar pesquisa de mutações para fibrose cística e de medir a diferença de potencial nasal pode ser de utilidade diagnóstica. A abordagem terapêutica padrão para a doença pulmonar inclui: antibióticos, higiene das vias aéreas, exercício, mucolíticos, broncodilatadores, oxigênio, agentes anti-inflamatórios e suporte nutricional. A utilização adequada dessas terapias resulta em mais pacientes com fibrose cística sobrevivendo na vida adulta com uma aceitável qualidade de vida.Once considered a childhood disease, cystic fibrosis is now also a disease of adults. Increased longevity has resulted in the aging of the cystic fibrosis population. The consequent age-related medical problems among adults with cystic fibrosis have increased medical care needs. These needs are being met by a growing number of non-pediatric pulmonologists and other non-pediatric specialists. The objective of this review was to summarize the current knowledge about diagnosis and treatment in adult

  3. X-ray endovascular repair of the venous bed of the pyelonephritically contracted kidney in the treatment of nephrogenic and chronic renal failure

    International Nuclear Information System (INIS)

    Galkin, E.V.; Gladkov, V.V.; Inozemtsev, G.S.

    2000-01-01

    For compensation for chronic ischemia of the pyelonephritically contracted kidney the X-ray endovascular venous revascularization was used for the first time. The surgical intervention was to stenosis the subsegmental veins of the diseased kidney resulting in recanalization of the arterial system. Outcomes of X-ray treatment were analyzed in 38 patients with chronic degree I-II renal failure and nephrogenic hypertension. In 35 (92.1 %) patients of them, there was improvement in the clinical picture of the underlying disease and in the filtrating and reabsorbing function of the kidney operated on, an increase in its sizes, and decrease in systemic blood pressure [ru

  4. Nephrogenic systemic fibrosis versus contrast-induced nephropathy: risks and benefits of contrast-enhanced MR and CT in renally impaired patients

    DEFF Research Database (Denmark)

    Martin, Diego R; Semelka, Richard C; Chapman, Arlene

    2009-01-01

    -sectional imaging modality. Factors to consider include the relative risks of the contrast agent. Other factors include the relative procedural risks, including radiation risks and the relative expected diagnostic yield of the examination technique (12). In this review we describe both nephrogenic systemic fibrosis...... and contrast-induced nephropathy to compare the implications with regard to relative risks and benefits of contrast-enhanced MRI or CT in patients with impaired renal function. J. Magn. Reson. Imaging 2009;30:1350-1356. (c) 2009 Wiley-Liss, Inc....

  5. "Antifibrotic effect after low-dose imatinib mesylate treatment in patients with nephrogenic systemic fibrosis: An open-label non-randomized, uncontrolled clinical trial"

    DEFF Research Database (Denmark)

    Elmholdt, Tina Rask; Olesen, Anne Braae

    2011-01-01

    Background Nephrogenic systemic fibrosis is a disease affecting the connective tissue of the skin and internal organs in patients with renal failure. No effective treatments are available. Objectives To investigate if the tyrosine kinase inhibitor, imatinib mesylate was effective in patients...... Imatinib mesylate may be an effective drug in the treatment of skin fibrosis in moderate to severe NSF cases, even at reduced doses. We found a positive clinical effect on the skin, but no convincing improvement of the joint mobility. Only few patients could be recruited limiting the interpretation...

  6. Republished: Fibrosing organising pneumonia.

    Science.gov (United States)

    Beardsley, Brooke; Rassl, Doris

    2014-08-01

    Organising pneumonia (otherwise referred to as bronchiolitis obliterans organising pneumonia) is characterised histologically by plugs of granulation tissue, which are present predominantly within small airways, alveolar ducts and peri-bronchiolar alveoli. This pattern is not specific for any disorder or cause, but is one type of inflammatory response to pulmonary injury, which may be seen in a wide variety of clinical conditions. Typically, organising pneumonia responds very well to corticosteroid treatment; however, a small percentage of patients appear to develop progressive fibrosis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  7. Fibrosing organising pneumonia.

    Science.gov (United States)

    Beardsley, Brooke; Rassl, Doris

    2013-10-01

    Organising pneumonia (otherwise referred to as bronchiolitis obliterans organising pneumonia) is characterised histologically by plugs of granulation tissue, which are present predominantly within small airways, alveolar ducts and peri-bronchiolar alveoli. This pattern is not specific for any disorder or cause, but is one type of inflammatory response to pulmonary injury, which may be seen in a wide variety of clinical conditions. Typically, organising pneumonia responds very well to corticosteroid treatment; however, a small percentage of patients appear to develop progressive fibrosis.

  8. Acroqueratodermia aquagénica associada a uma mutação do gene da fibrose quística

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    V. Coelho-Macias

    2013-05-01

    Full Text Available Resumo: Descrita em 1996, a acroqueratodermia aquagénica é uma entidade rara, caracterizada pelo aparecimento de pápulas edematosas palmares após contacto com água. Múltiplas associações foram enumeradas mas, recentemente, a associação a mutações do gene da fibrose quística foi demonstrada.Descreve-se o caso de uma mulher de 18 anos, saudável, com prurido e edema palmar após imersão em água. O exame objetivo inicial não mostrava alterações mas, 5 min após imersão em água, observavam-se múltiplas pápulas esbranquiçadas palmares. O estudo do gene da fibrose quística (CFTR revelou uma mutação F508del num dos alelos. A doente negava outras queixas ou história familiar relevante.A acroqueratodermia aquagénica é uma entidade provavelmente subdiagnosticada que poderá constituir uma manifestação de mutações do gene CFTR, o que possibilitaria a identificação de portadores e aconselhamento genético. Abstract: Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR has been highlighted.The authors describe an 18 year-old female, with one-month complaints of pruritus and swelling of palmar skin after water immersion. On examination, palmar skin was unremarkable but, 5 minutes after water immersion, multiple whitish papules became apparent. CFTR genotype study showed a F508del mutation in one alelle. She had no other symptoms and no relevant family history.Aquagenic keratoderma is probably an under-diagnosed entity that might represent a manifestation of CFTR mutations, making carrier state identification and genetic counseling possible. Palavras-chave: Acroqueratodermia aquagénica, Fibrose quística, Aconselhamento genético, Keywords: Aquagenic keratoderma, Cystic

  9. Achados histológicos e sobrevida na fibrose pulmonar idiopática Histological features and survival in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Ester Nei Aparecida Martins Coletta

    2003-12-01

    Full Text Available INTRODUÇÃO: A fibrose pulmonar idiopática foi recentemente redefinida como pneumonia intersticial usual de etiologia desconhecida. O valor prognóstico dos achados histológicos deve ser reavaliado. OBJETIVO: Neste estudo foram correlacionados os achados histológicos e alguns dados clínicos e funcionais (duração dos sintomas, capacidade vital forçada, idade, sexo, hábito de fumar com a sobrevida. MÉTODO: Foram estudados 51 pacientes portadores de fibrose pulmonar idiopática. A média de idade foi de 66 ± 8 anos. Vinte e um pacientes eram do sexo feminino; 26 eram fumantes ou ex-fumantes. Todos apresentavam quadro de pneumonia intersticial usual na histologia. Grau de faveolamento, fibrose estabelecida, descamação, celularidade, espessamento vascular miointimal e focos fibroblásticos foram graduados por método semiquantitativo. RESULTADOS: A mediana do tempo de sintomas foi de 12 meses e a capacidade vital forçada inicial foi de 72 ± 21%. Por análise de risco proporcional de Cox, a sobrevida correlacionou-se, de maneira significativa (p BACKGROUND: Idiopathic pulmonary fibrosis was recently redefined as usual interstitial pneumonia of unknown etiology. Consequently, the prognostic value of histological findings needs to be reassessed. OBJECTIVE: To correlate clinical, functional and histological findings with survival in patients with idiopathic pulmonary fibrosis. METHOD: Patients (n = 51; mean age: 66 ± 8 years; gender: 21 females/30 males were evaluated. Of the 51, 26 were smokers or ex-smokers. Duration of symptoms, forced vital capacity and smoking habits were recorded. All patients presented usual interstitial pneumonia verified through histology. Degree of honeycombing, established fibrosis, desquamation, cellularity, myointimal thickening of blood vessels and number of fibroblastic foci were graded according to the semiquantitative method. RESULTS: Median duration of symptoms was 12 months and initial forced vital

  10. Retrospective analysis of patients for development of nephrogenic systemic fibrosis following conventional angiography using gadolinium-based contrast agents.

    Science.gov (United States)

    Hoppe, Hanno; Spagnuolo, Sara; Froehlich, Johannes M; Nievergelt, Helga; Dinkel, Hans-Peter; Gretener, Silvia; Thoeny, Harriet C

    2010-03-01

    The purpose was to retrospectively review the data of 27 patients with renal insufficiency who underwent conventional angiography with gadolinium-based contrast agents (GDBCA) as alternative contrast agents and assess the occurrence of nephrogenic systemic fibrosis (NSF) together with associated potential risk factors. This HIPAA-compliant study had institutional review board approval, and informed consent was waived. Statistical analysis was performed for all available laboratory and clinical data, including dermatology reports. Type and amount of the GDBCA used were recorded for angiography and additional MRI studies, if applicable. Serum creatinine levels (SCr) pre- and post-angiography were recorded, and estimated glomerular filtration rates (eGFR) were calculated. Ten female and 17 male patients who underwent angiography with GDBCA were included. The mean amount of GDBCA administered was 44 +/- 15.5 ml (range 15-60 ml) or 0.24 + 0.12 mmol/kg (range 0.1-0.53 mmol/kg). At the time of angiography all patients had renal insufficiency (eGFR <60 ml/min/1.73 m(2)). Mean eGFR pre-angiography was 26 ml/min/1.73 m(2) and 33 ml/min/1.73 m(2) post-angiography. The mean follow-up period covers 28 months, range 1-84 months. Additional MRI studies with GDBCA administration were performed in 15 patients. One patient with typical skin lesions had developed biopsy-confirmed NSF. Conventional arterial angiography with GDBCA may play a role in the development of NSF in patients with renal insufficiency. Alternative contrast agents, such as CO(2) angiography or rather the use of low doses of iodinated contrast agents, should be considered in these patients.

  11. Retrospective analysis of patients for development of nephrogenic systemic fibrosis following conventional angiography using gadolinium-based contrast agents

    International Nuclear Information System (INIS)

    Hoppe, Hanno; Spagnuolo, Sara; Froehlich, Johannes M.; Thoeny, Harriet C.; Nievergelt, Helga; Dinkel, Hans-Peter; Gretener, Silvia

    2010-01-01

    The purpose was to retrospectively review the data of 27 patients with renal insufficiency who underwent conventional angiography with gadolinium-based contrast agents (GDBCA) as alternative contrast agents and assess the occurrence of nephrogenic systemic fibrosis (NSF) together with associated potential risk factors. This HIPAA-compliant study had institutional review board approval, and informed consent was waived. Statistical analysis was performed for all available laboratory and clinical data, including dermatology reports. Type and amount of the GDBCA used were recorded for angiography and additional MRI studies, if applicable. Serum creatinine levels (SCr) pre- and post-angiography were recorded, and estimated glomerular filtration rates (eGFR) were calculated. Ten female and 17 male patients who underwent angiography with GDBCA were included. The mean amount of GDBCA administered was 44 ± 15.5 ml (range 15-60 ml) or 0.24 + 0.12 mmol/kg (range 0.1-0.53 mmol/kg). At the time of angiography all patients had renal insufficiency (eGFR 2 ). Mean eGFR pre-angiography was 26 ml/min/1.73 m 2 and 33 ml/min/1.73 m 2 post-angiography. The mean follow-up period covers 28 months, range 1-84 months. Additional MRI studies with GDBCA administration were performed in 15 patients. One patient with typical skin lesions had developed biopsy-confirmed NSF. Conventional arterial angiography with GDBCA may play a role in the development of NSF in patients with renal insufficiency. Alternative contrast agents, such as CO 2 angiography or rather the use of low doses of iodinated contrast agents, should be considered in these patients. (orig.)

  12. Retrospective analysis of patients for development of nephrogenic systemic fibrosis following conventional angiography using gadolinium-based contrast agents

    Energy Technology Data Exchange (ETDEWEB)

    Hoppe, Hanno; Spagnuolo, Sara; Froehlich, Johannes M.; Thoeny, Harriet C. [University Hospital Bern, Institute of Diagnostic, Interventional, and Pediatric Radiology, Inselspital, Bern (Switzerland); Nievergelt, Helga [University Hospital Bern, Clinic of Dermatology, Bern (Switzerland); Dinkel, Hans-Peter [Hospital Landshut, Institute of Diagnostic and Interventional Radiology, Landshut (Germany); Gretener, Silvia [University Hospital of Bern, Division of Vascular Medicine, Swiss Cardiovascular Center, Bern (Switzerland)

    2010-03-15

    The purpose was to retrospectively review the data of 27 patients with renal insufficiency who underwent conventional angiography with gadolinium-based contrast agents (GDBCA) as alternative contrast agents and assess the occurrence of nephrogenic systemic fibrosis (NSF) together with associated potential risk factors. This HIPAA-compliant study had institutional review board approval, and informed consent was waived. Statistical analysis was performed for all available laboratory and clinical data, including dermatology reports. Type and amount of the GDBCA used were recorded for angiography and additional MRI studies, if applicable. Serum creatinine levels (SCr) pre- and post-angiography were recorded, and estimated glomerular filtration rates (eGFR) were calculated. Ten female and 17 male patients who underwent angiography with GDBCA were included. The mean amount of GDBCA administered was 44 {+-} 15.5 ml (range 15-60 ml) or 0.24 + 0.12 mmol/kg (range 0.1-0.53 mmol/kg). At the time of angiography all patients had renal insufficiency (eGFR <60 ml/min/1.73 m{sup 2}). Mean eGFR pre-angiography was 26 ml/min/1.73 m{sup 2} and 33 ml/min/1.73 m{sup 2} post-angiography. The mean follow-up period covers 28 months, range 1-84 months. Additional MRI studies with GDBCA administration were performed in 15 patients. One patient with typical skin lesions had developed biopsy-confirmed NSF. Conventional arterial angiography with GDBCA may play a role in the development of NSF in patients with renal insufficiency. Alternative contrast agents, such as CO{sub 2} angiography or rather the use of low doses of iodinated contrast agents, should be considered in these patients. (orig.)

  13. Evaluation of the incidence of nephrogenic systemic fibrosis in patients with moderate renal insufficiency administered gadobenate dimeglumine for MRI

    International Nuclear Information System (INIS)

    Bryant, B.J.; Im, K.; Broome, D.R.

    2009-01-01

    Aim: To determine the incidence of nephrogenic systemic fibrosis (NSF) in stage 3 chronic kidney disease patients following intravenous exposure to gadobenate dimeglumine. Materials and methods: A prospective study was performed on 168 consecutive patients at a single institution with stage 3 chronic kidney disease who underwent clinically-indicated contrast-enhanced magnetic resonance imaging (MRI) examinations with gadobenate dimeglumine from January 2007 to March 2008. All patients were contacted by phone by investigators 3 months after MRI to verify the presence or absence of NSF signs or symptoms. If signs or symptoms suggestive of NSF developed, dermatologic referral was made and confirmatory skin biopsy performed if indicated. Results: One hundred and eighty contrast-enhanced MRI examinations with gadobenate dimeglumine were performed on the 168 patients. Twenty patients were lost to follow-up, but 160 incidents of contrast medium exposure were followed up for 3-months and 105 incidents were followed up for 6 months. The mean contrast medium dose per weight was 0.093 mmol/kg (range 0.042-0.153 mmol/kg). The mean estimated creatinine clearance was 50.4 ml/min/1.73 m 2 (range from 30-59 ml/min/1.73 m 2 ). Ten patients developed skin rashes during the 3-month follow-up period, but none were confirmed to represent NSF (0% prevalence rate). No other signs or symptoms of NSF were reported. Conclusion: Based on this limited study, NSF does not appear to occur in patients with stage 3 chronic kidney disease exposed to intravenous gadobenate dimeglumine for MRI at standard dosing of ∼0.1 mmol/kg.

  14. Fatores prognósticos em fibrose pulmonar idiopática Prognostic factors in idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    ADALBERTO SPERB RUBIN

    2000-09-01

    Full Text Available Com o objetivo de avaliar quais fatores prognósticos são significativos na sobrevida de pacientes com fibrose pulmonar idiopática (FPI, foram estudados 117 casos com comprovação histológica da doença, internados no Pavilhão Pereira Filho entre 1970 e 1996. Todos os pacientes realizaram radiologia convencional de tórax, espirometria e preencheram um questionário padronizado no momento da internação. Foram também realizados medida da difusão (34 casos, capacidade pulmonar total (28, gasometria (106, lavado broncoalveolar (39, provas reumatismais (45 e tomografia computadorizada de tórax (24. Para uma análise mais específica, os pacientes foram dividos em dois grupos: grupo A (sobrevida até dois anos - 55 pacientes e grupo B (sobrevida maior que cinco anos - 24 pacientes, sendo estas características também analisadas de acordo com a significância em relação à sobrevida. Foram considerados fatores indicativos de pior prognóstico a idade avançada, a duração prolongada de sintomas, a gravidade da dispnéia, a redução da CVF, da DCO, da PaO2 e da SaO2, a intensidade do faveolamento e o grau de profusão do padrão reticular na TCAR. Estiveram também associados à menor sobrevida os valores menores de VEF1 e CPT. A utilização destes critérios de gravidade que apresentaram significância estatística, quando utilizados em conjunto, pode determinar uma avaliação prognóstica mais apurada em pacientes portadores de FPI, com implicações terapêuticas e sociais relevantes para seu manejo e acompanhamento.In order to evaluate which prognostic factors were significant to the survival of patients with idiopathic pulmonary fibrosis (IPF, 121 histologically confirmed cases of the disease were studied at the Pereira Filho Hospital from 1970 to 1996. All patients were submitted to a standard thorax X-ray and spirometry and answered a standardized questionnaire when admitted to hospital. They also underwent diffusion tests (34

  15. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

    NARCIS (Netherlands)

    Boccalandro, C.; Mattia, F.P. de; Guo, D.C.; Xue, L.; Orlander, P.; King, T.M.; Gupta, P.; Deen, P.M.T.; Lavis, V.R.; Milewicz, D.M.

    2004-01-01

    A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family's town of origin in Mexico. Affected individuals with profound polyuria

  16. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

    Science.gov (United States)

    Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Figarella-Branger, Dominique; Fleurence, Emmanuelle; Ganapathi, Mythily; Gherardi, Romain; Goldenberg, Alice; Hamel, Antoine; Igual, Jeanine; Irvine, Alan D; Israël-Biet, Dominique; Kannengiesser, Caroline; Laboisse, Christian; Le Caignec, Cédric; Mahé, Jean-Yves; Mallet, Stéphanie; MacGowan, Stuart; McAleer, Maeve A; McLean, Irwin; Méni, Cécile; Munnich, Arnold; Mussini, Jean-Marie; Nagy, Peter L; Odel, Jeffrey; O'Regan, Grainne M; Péréon, Yann; Perrier, Julie; Piard, Juliette; Puzenat, Eve; Sampson, Jacinda B; Smith, Frances; Soufir, Nadem; Tanji, Kurenai; Thauvin, Christel; Ulane, Christina; Watson, Rosemarie M; Khumalo, Nonhlanhla P; Mayosi, Bongani M; Barbarot, Sébastien; Bézieau, Stéphane

    2015-10-15

    Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes. HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.

  17. Estado nutricional e distribuição de gordura corporal em crianças e adolescentes com Fibrose Cística

    Directory of Open Access Journals (Sweden)

    Célia Regina Moutinho de Miranda Chaves

    2015-11-01

    Full Text Available O objetivo deste estudo é avaliar o estado nutricional e a distribuição da gordura corporal em crianças e adolescentes com fibrose cística. Foram realizadas avaliação da distribuição de gordura corporal por meio da absorciometria de duplo feixe de energia, do estado nutricional por estatura/idade e índice de massa corporal/idade e a ingestão dietética pelo recordatório alimentar de 24horas, em 56 pacientes com idade entre 8 e 18 anos. Aproximadamente 50% da amostra apresentou estado nutricional adequado. A maioria apresentou a ingestão calórica e de lipídios inadequadas. O IMC/I foi o indicador nutricional que melhor evidenciou o aumento do percentual de gordura do tronco, razão androide/ginecoide e razão gordura tronco/gordura total. Os pacientes com Insuficiência Pancreática e os eutróficos apresentaram razão mediana androide/ginecoide maior. O aumento da adiposidade abdominal foi evidenciado pela DXA. O IMC/I não identificou a diminuição da massa magra corporal, mas quando aumentado foi significativo para adiposidade abdominal. Pacientes com fibrose cística devem associar a avaliação antropométrica à composição corporal e à distribuição de gordura corporal para um diagnóstico mais precoce de desnutrição e fatores de risco cardiometabólico.

  18. Fibrose cística em adultos: aspectos clínicos e espirométricos Cystic fibrosis in adults clinical and spirometric aspects

    Directory of Open Access Journals (Sweden)

    Antônio Carlos M. Lemos

    2004-02-01

    Full Text Available INTRODUÇÃO: A fibrose cística é diagnosticada usualmente na infância. No Brasil, poucos estudos abordam seu diagnóstico na idade adulta. OBJETIVO: Descrever as características demográficas, clínicas e os achados de espirometria dos pacientes com fibrose cística diagnosticados na idade adulta, na Bahia (Brasil. MÉTODO: Foram avaliados 28 pacientes com fibrose cística diagnosticada na idade adulta no Centro de Referência de Fibrose Cística do Estado da Bahia. As variáveis de interesse foram: idade, gênero, cor, índice de massa corpórea (IMC, cultivo do escarro, porcentagem do previsto da capacidade vital forçada (% CVF, porcentagem do previsto do volume expiratório forçado no primeiro segundo (% VEF1 e resposta ao broncodilatador. RESULTADOS: A média de idade dos pacientes foi de 31,1±12,4 anos. A proporção de negros e mulatos foi de 53,7%, e a média de IMC foi 18,7±3,0Kg/m2. Em doze pacientes (43% foi confirmada P. aeruginosa no escarro. As médias ±DP dos percentuais do previsto da CVF e do VEF1 foram de 58,9±21,6% e 44,1±23% respectivamente. No grupo colonizado por P. aeruginosa as médias dos parâmetros espirométricos foram inferiores às do grupo não colonizado. Entretanto, somente em relação à CVF esta diferença alcançou significância estatística (p= 0,007. CONCLUSÃO: Concordante com a literatura, este estudo reforça que o diagnóstico de fibrose cística deve ser investigado em pacientes com infecções respiratórias de repetição, sinusite e bronquiectasias, mesmo na idade adulta. Os valores dos percentuais da CVF e VEF1 em relação ao previsto foram menores nos pacientes colonizados por P aeruginosa, evidenciando uma maior deterioração da função pulmonar.INTRODUCTION: Cystic Fibrosis is usually diagnosed in childhood. In Brazil, few studies have approached CF diagnosed in adulthood. OBJECTIVE: The aim of this study was to describe demographic and clinical characteristics and spirometric

  19. A longitudinal study of whole body, tissue, and cellular physiology in a mouse model of fibrosing NASH with high fidelity to the human condition.

    Science.gov (United States)

    Krishnan, Anuradha; Abdullah, Tasduq Sheikh; Mounajjed, Taofic; Hartono, Stella; McConico, Andrea; White, Thomas; LeBrasseur, Nathan; Lanza, Ian; Nair, Sreekumaran; Gores, Gregory; Charlton, Michael

    2017-06-01

    The sequence of events that lead to inflammation and fibrosing nonalcoholic steatohepatitis (NASH) is incompletely understood. Hence, we investigated the chronology of whole body, tissue, and cellular events that occur during the evolution of diet-induced NASH. Male C57Bl/6 mice were assigned to a fast-food (FF; high calorie, high cholesterol, high fructose) or standard-chow (SC) diet over a period of 36 wk. Liver histology, body composition, mitochondrial respiration, metabolic rate, gene expression, and hepatic lipid content were analyzed. Insulin resistance [homeostasis model assessment-insulin resistance (HOMA-IR)] increased 10-fold after 4 wk. Fibrosing NASH was fully established by 16 wk. Total hepatic lipids increased by 4 wk and remained two- to threefold increased throughout. Hepatic triglycerides declined from sixfold increase at 8 wk to threefold increase by 36 wk. In contrast, hepatic cholesterol levels steadily increased from baseline at 8 wk to twofold by 36 wk. The hepatic immune cell population altered over time with macrophages persisting beyond 16 wk. Mitochondrial oxygen flux rates of FF mice diet were uniformly lower with all the tested substrates (13-276 pmol·s -1 ·ml -1 per unit citrate synthase) than SC mice (17-394 pmol·s -1 ·ml -1 per unit citrate synthase) and was accompanied by decreased mitochondrial:nuclear gene copy number ratios after 4 wk. Metabolic rate was lower in FF mice. Mitochondrial glutathione was significantly decreased at 24 wk in FF mice. Expression of dismutases and catalase was also decreased in FF mice. The evolution of NASH in the FF diet-induced model is multiphasic, particularly in terms of hepatic lipid composition. Insulin resistance precedes hepatic inflammation and fibrosis. Mitochondrial dysfunction and depletion occur after the histological features of NASH are apparent. Collectively, these observations provide a unique overview of the sequence of changes that coevolve with the histological evolution of

  20. Diabetic mice are protected from normally lethal nephrotoxicity of S-1,2-dichlorovinyl-L-cysteine (DCVC): role of nephrogenic tissue repair

    International Nuclear Information System (INIS)

    Dnyanmote, Ankur V.; Sawant, Sharmilee P.; Lock, Edward A.; Latendresse, John R.; Warbritton, Alan A.; Mehendale, Harihara M.

    2006-01-01

    Streptozotocin (STZ)-induced diabetic (DB) rats are protected from nephrotoxicity of gentamicin, cisplatin and mercuric chloride, although the mechanisms remain unclear. Ninety percent of DB mice receiving a LD90 dose (75 mg/kg, ip) of S-1,2-dichlorovinyl-L-cysteine (DCVC) survived in contrast to only 10% of the nondiabetic (NDB) mice surviving the same dose. We tested the hypothesis that the mechanism of protection is upregulated tissue repair. In the NDB mice, DCVC produced steep temporal increases in blood urea nitrogen (BUN) and plasma creatinine, which were associated with proximal tubular cell (PTC) necrosis, acute renal failure (ARF), and death within 48 h. In contrast, in the DB mice, BUN and creatinine increased less steeply, declining after 36 h to completely resolve by 96 h. HPLC analysis of plasma and urine revealed that DB did not alter the toxicokinetics of DCVC. Furthermore, activity of renal cysteine conjugate β-lyase, the enzyme that bioactivates DCVC, was unaltered in DB mice, undermining the possibility of lower bioactivation of DCVC leading to lower injury. [3H]-thymidine pulse labeling and PCNA analysis indicated an early onset and sustained nephrogenic tissue repair in DCVC-treated DB mice. BRDU immunohistochemistry revealed a fourfold increase in the number of cells in S-phase in the DB kidneys even without exposure to DCVC. Blocking the entry of cells into S-phase by antimitotic intervention using colchicine abolished stimulated nephrogenic tissue repair and nephroprotection. These findings suggest that preplacement of S-phase cells in the kidney due to diabetes is critical in mitigating the progression of DCVC-initiated renal injury by upregulation of tissue repair, leading to survival of the DB mice by avoiding acute renal failure

  1. A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.

    Science.gov (United States)

    Abaci, Ayhan; Wood, Kent; Demir, Korcan; Büyükgebiz, Atilla; Böber, Ece; Kopp, Peter

    2010-01-01

    To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation. We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation [SD]), his weight 10.5 kg (-2.67 SD), and he had motor and mental retardation. His maternal great-grandfather also had polyuria and polydipsia (but not diabetes mellitus), suggesting X-linked nephrogenic diabetes insipidus as the underlying cause. The patient underwent a water deprivation-desmopressin test. The coding region of the AVPR2 gene was amplified by polymerase chain reaction and submitted to direct sequence analysis. The water deprivation test confirmed the diagnosis of diabetes insipidus, and administration of desmopressin did not diminish his water secretion. Direct sequencing of the AVPR2 gene revealed a novel deletion of adenine at position 222 (222delA) in exon 2. This mutation is predicted to lead to a frameshift beginning at amino acid 75 and a premature stop codon at position 115 (FS75>115X). His height and weight, as well as his motor skills, improved after initiation of therapy with hydrochlorothiazide and amiloride. Growth delay can be associated with diabetes insipidus. The X-linked nephrogenic diabetes insipidus in this boy is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein.

  2. Avaliação do uso do captopril na fibrose peritoneal induzida em ratos pelo uso de solução de glicose a 4,25%

    Directory of Open Access Journals (Sweden)

    Adriana Fátima Menegat Schuinski

    2013-12-01

    Full Text Available INTRODUÇÃO: A Insuficiência Renal Crônica (IRC tem incidência alarmante neste século. A diálise peritoneal, uma das modalidades de terapia renal pode ter complicações, e entre estas a fibrose peritoneal, que ocorre com o decorrer dos anos nestes pacientes. Sua forma mais grave é a chamada peritonite esclerosante encapsulante, levando à mudança de terapia dialítica. OBJETIVO: Estudar a influência do uso do captopril na fibrose peritoneal induzida em ratos pelo uso de solução de glicose a 4,25 %. MÉTODOS: Estudo prospectivo controlado, em ratos Wistar não urêmicos. Foram estudados 20 animais. Os animais foram submetidos diariamente à punção abdominal, sendo infundida solução de diálise peritoneal com glicose a 4,25% na dose de 10 ml/100 g de peso. Os animais foram divididos em 2 grupos: experimental e controle. O grupo experimental recebeu captopril na dose de 30 mg/kg/dia por gavagem. O grupo controle não recebeu nenhuma droga. Foram acompanhados por 21 e 49 dias. Ao final do período foram submetidos à procedimento cirúrgico para retirada de peritônio parietal e visceral. As amostras obtidas foram analisadas histologicamente, usando-se coloração Hematoxilina - Eosina e Sirius Red, para avaliação do grau de fibrose. RESULTADOS: A análise mostrou que a intensidade da fibrose, a espessura do peritônio e o número de células não atingiram diferença estatisticamente significante entre os grupos experimental e controle. CONCLUSÃO: O estudo mostrou que o uso do captopril não foi capaz de alterar a intensidade da fibrose peritoneal induzida pelo uso de solução de diálise em ratos.

  3. Expression and distribution of connexin 32 in rat liver with experimentally induced fibrosis Expressão e distribuição da conexina 32 em fígados de ratos com fibrose induzida experimentalmente

    Directory of Open Access Journals (Sweden)

    Alexandro dos S. Rodrigues

    2009-04-01

    Full Text Available The connexin 32 (Cx32 is a protein that forms the channels that promote the gap junction intercellular communication (GJIC in the liver, allowing the diffusion of small molecules through cytosol from cell-to-cell. Hepatic fibrosis is characterized by a disruption of normal tissue architeture by cellular lesions, and may alter the GJIC. This work aimed to study the expression and distribution of Cx32 in liver fibrosis induced by the oral administration of dimethylnitrosamine in female Wistar rats. The necropsy of the rats was carried out after five weeks of drug administration. They presented a hepatic fibrosis state. Sections from livers with fibrosis and from control livers were submitted to immunohistochemical, Real Time-PCR and Western-Blot analysis to Cx32. In fibrotic livers the Cxs were diffusely scattered in the cytoplasm, contrasting with the control livers, where the Cx32 formed junction plaques at the cell membrane. Also it was found a decrease in the gene expression of Cx32 without reduction in the protein quantity when compared with controls. These results suggest that there the mechanism of intercellular communication between hepatocytes was reduced by the fibrotic process, which may predispose to the occurrence of a neoplastic process, taken in account that connexins are considered tumor suppressing genes.A conexina 32 (Cx32 é uma proteína que constitui os canais que promovem as comunicações intercelulares via junções comunicantes (CIJC no fígado, permitindo difusão de pequenas moléculas citoplasmáticas de uma célula à outra. A fibrose hepática caracteriza-se pela alteração da arquitetura normal do fígado e podem alterar as CIJCs. O objetivo deste trabalho foi estudar a expressão e distribuição de Cx32 na fibrose hepática. O objetivo do presente trabalho foi estudar a expressão e distribuição da Cx32 em fígados com fibrose induzida pela administração oral de dimetilnitrosamina em fêmeas de ratos Wistar. A

  4. Perfil de citocinas da polipose nasossinusal na Fibrose Cística comparado com indivíduos sem doenças nasossinusais Cytokine profile in subjects with Cystic Fibrosis and nasal polyposis compared to patients with no nasal disorders

    Directory of Open Access Journals (Sweden)

    Flávio Barbosa Nunes

    2010-02-01

    Full Text Available Embora o perfil das citocinas na polipose nasossinusal seja bem documentado, pouco se sabe sobre estas proteínas quando associadas à Fibrose Cística. OBJETIVOS: Avaliar a expressão das citocinas IL¬4, IL¬5, IL¬6, IL¬8, GM¬C-SF e IFN--y analisada pela RT¬-PCR, nos pólipos de pacientes com Fibrose Cística. MATERIAL E MÉTODO: Estudo transversal, prospectivo, de 24 pacientes, 13 com Fibrose Cística e polipose nasossinusal (Grupo Fibrose Cística e 11 com exame otorrinolaringológico normal (Grupo Controle. A média de idade foi de 21 anos (3¬-57, 12 eram do sexo masculino e 12 do sexo feminino. O perfil das citocinas foi pesquisado nos fragmentos de mucosa (Grupo Controle ou pólipo nasal (Grupo Fibrose Cística através da RT-¬PCR. Foram estudadas as transcrições para as citocinas IL¬4, IL¬5, IL¬6, IL¬8, IFN¬y e GM¬-CSF ajustadas pelo valor da β¬ actina. RESULTADOS: As interleucinas 5, 6, 8 e GM¬-CSF foram semelhantes nos dois grupos (p>0,05. Menores valores de IFNy¬ (p=0,03 e forte tendência de aumento de IL¬4 (p=0,06 foram observados no grupo Fibrose Cística. CONCLUSÃO: As células inflamatórias e estruturais podem produzir RNA mensageiro para IL¬4, bloqueando a produção de outras citocinas com IFN-y¬, sugerindo a participação destes mecanismos na formação dos pólipos da Fibrose Cística.Although the cytokine profile in nasal polyposis is well documented, little is known about cytokines associated to cystic fibrosis. AIM: Assess the expression of cytokines IL¬4, IL¬5, IL¬6, IL¬8, GM¬-CSF and IFN¬-y, analyzed through RT-PCR, in the polyps of patients with cystic fibrosis. MATERIALS AND METHODS: A cross-sectional, prospective study was carried out with 24 patients, 13 of whom had cystic fibrosis and nasal polyposis (Cystic Fibrosis Group and 11 had normal otorhinolaryngological exams (Control Group. The average age was 21 years (3¬57; 12 participants were males and 12 were females. The cytokine

  5. Nephrogenic systemic fibrosis.

    LENUS (Irish Health Repository)

    Kennedy, C

    2010-11-05

    Nephroaenic systemic fibrosis (NSF) is a potentiallv fatal dermatiological condition found exclusively in patients with advanced renal I failure. There is minimal literature regarding the epidemiology and outcomes of patients with NSF in Ireland. A retrospective chart review was performed for all patients with NSF in Ireland. Ireland\\'s experience with the disease was examined in light of international reports. There have been three cases of NSF in Ireland; an area which serves 1915 dialysis patients--giving a point prevalence among Irish end-stage kidney disease patients of 0.002. There was a large variation in disease severity between the three patients. All three patients had significant exposure to gadolinium chelate. Caution with gadolinium administration must be exercised in patients with advanced renal failure.

  6. Associação entre postura, função pulmonar e capacidade funcional na fibrose quística

    Directory of Open Access Journals (Sweden)

    J.T.S. Penafortes

    2013-01-01

    Full Text Available Resumo: Objetivos: Avaliar as correlações entre função pulmonar, capacidade funcional e postura em pacientes adultos portadores de fibrose quística (FQ. Como segundo objetivo, avaliar a correlação entre a qualidade de vida e as variáveis obtidas na avaliação postural destes pacientes. Métodos: Foi realizado um estudo transversal em que 14 portadores de FQ se submeteram à avaliação da análise postural (software de avaliação postural e provas de função pulmonar (espirometria, pletismografia de corpo inteiro e medição da capacidade de difusão do CO e capacidade funcional (teste da caminhada de 6 min. Todos os pacientes responderam ao Questionário de Fibrose Quística com Versão Revisada (QFQ-R. Resultados: A maioria dos pacientes era do sexo masculino (57%, com mediana da idade de 24,5 anos (22-34 anos. Foram observadas correlações significantes de volume expiratório máximo no primeiro segundo, distância da caminhada dos 6 min, capacidade pulmonar total e resistência de vias aéreas com o alinhamento vertical do tronco (ρ = −0,57, p < 0,05; ρ = −0,65, p < 0,01; ρ = 0,54, p < 0,05; e ρ = 0,67, p < 0,01, respetivamente. Foram observadas correlações estatisticamente significantes entre o domínio «físico» do QFQ-R e o alinhamento vertical do tórax (ρ = −0,74, p < 0,01, e entre o domínio «limitações» do QFQ-R e o ângulo do quadril (ρ = −0,55, p < 0,05. Conclusões: O presente trabalho mostra que as anormalidades na função pulmonar e na capacidade funcional se associam às alterações posturais em adultos portadores de FQ. Entretanto, a gravidade das anormalidades posturais não influenciam negativamente os domínios do QFQ-R. Abstract: Aim: The purpose of this study was to evaluate the

  7. Seguimento nutricional de pacientes com fibrose cística: papel do aconselhamento nutricional Nutritional follow-up of cystic fibrosis patients: the role of nutrition education

    Directory of Open Access Journals (Sweden)

    Fabíola V. Adde

    2004-12-01

    Full Text Available OBJETIVO: Avaliar o estado nutricional de um grupo de pacientes com fibrose cística e analisar a repercussão do aconselhamento nutricional através de um estudo comparativo pré- e pós-intervenção. MÉTODOS: Todos os pacientes com fibrose cística em seguimento regular no ambulatório de pneumologia do Instituto da Criança no período de 1996-99 foram prospectivamente acompanhados durante 3,5 anos. Em quatro etapas (I = inicial, II = 7 meses, III = 13 meses, IV = 43 meses, foi realizada uma avaliação nutricional que consistia de medidas de peso, estatura/comprimento, circunferência do braço e pregas cutâneas, e cálculos de escores z para peso/idade, estatura/idade, peso/estatura, circunferência do braço e da prega cutânea tricipital, porcentagem de peso/estatura e porcentagem de gordura corpórea. Era feita verificação do uso das enzimas pancreáticas e do uso de suplementos nutricionais. Aconselhamento nutricional verbal e através de uma cartilha explicativa foi realizado em todos os pacientes. RESULTADOS: Foram avaliados 74 pacientes, 38 do sexo feminino e 36 do masculino, com idades de 6 meses a 18,4 anos. Na etapa inicial, os dados antropométricos revelaram: porcentagem de peso/estatura = 94±13, porcentagem de gordura corpórea = 15±7,1, escore z peso/idade = -1,13±1,3, escore z estatura/idade = -0,94±1,2, escore z peso/estatura = -0,69±,1, escore z circunferência do braço = -1,35±1,3, escore z prega cutânea tricipital = -0,74±0,9. A aderência ao uso de enzimas e suplementos melhorou durante o estudo. Houve um aumento significativo no escore z de peso/idade e da prega tricipital e na porcentagem de gordura corpórea durante todo o período de estudo. Dividindo-se os pacientes em três grupos etários, a melhora antropométrica só foi significativa nos menores de 5 anos. CONCLUSÕES: Desnutrição leve estava presente nesse grupo de pacientes com fibrose cística. O aconselhamento nutricional realizado

  8. Fibrose quística – Caracterização clínica de uma amostra de doentes portugueses

    Directory of Open Access Journals (Sweden)

    Micaela Guardiano

    2005-07-01

    Full Text Available Resumo: Apesar dos rápidos avanços na compreensão dos determinantes moleculares da fibrose quística, esta continua a ser uma das doenças recessivas letais mais comuns na população caucasiana em todo o mundo. A realidade dos doentes portugueses continua a ser pouco conhecida, pela escassez de trabalhos publicados referentes à nossa população.Este trabalho tem como objectivos: fazer uma avaliação clínica de um grupo de doentes portugueses com fibrose quística, com 2 mutações identificadas e comparar a apresentação clínica de um grupo de doentes homozigóticos para a mutação F508del com doentes não homozigóticos para esta mutação.Para tal, seleccionou-se um grupo de doentes em seguimento na Consulta de Pneumologia Pediátrica do HSJ que foram caracterizados do ponto de vista fenotípico e classificados de acordo com critérios de gravidade.Todos os doentes desta amostra apresentaram mutações de classe I e/ou II, que se associam, classicamente, a fenótipo mais grave. Em conformidade com a gravidade genotípica, todos os doentes apresentaram um fenótipo de insuficiência pancreática mas com maior variabilidade de manifestações pulmonares.Não se encontraram variações significativas em termos de idade de diagnóstico, formas de apresentação e gravidade da doença entre doentes homozigóticos F508del e restantes doentes. Em contrapartida, doentes com o mesmo genótipo (homozigóticos F508del apresentaram diferentes espectros de manifestações clínicas e de gravidade fenotípica. Tanto ou mais do que a caracterização genotípica, o tempo de evolução da doença e os factores externos (nomeadamente a sujeição a estímulos infecciosos deverão interferir na gravidade do fenótipo num dado momento.Rev Port Pneumol 2005; XI (4: 381-406 Abstract: Even though there have been rapid advances in

  9. Preclinical investigation to compare different gadolinium-based contrast agents regarding their propensity to release gadolinium in vivo and to trigger nephrogenic systemic fibrosis-like lesions

    International Nuclear Information System (INIS)

    Sieber, Martin A.; Frenzel, Thomas; Golfier, Sven; Weinmann, Hanns-Joachim; Pietsch, Hubertus; Lengsfeld, Philipp; Schmitt-Willich, Heribert; Siegmund, Fred; Walter, Jakob

    2008-01-01

    Recent reports suggest that nephrogenic systemic fibrosis (NSF) is associated with the administration of gadolinium (Gd)-based contrast agents (GBCAs) and in particular with the stability of the Gd-complex. The aim of this investigation was to compare GBCAs and their potential to trigger NSF. Forty-two healthy male rats received repeated intravenous injections of six different GBCAs at high doses to simulate the exposure seen in patients with severe renal dysfunction. Histopathological and immunohistochemical analysis of the skin was performed, and the concentrations of Gd, zinc and copper were measured in several tissues by inductive coupled plasma atomic emission spectroscopy. Macroscopic and histological skin changes similar to those seen in NSF patients were only observed in rats receiving Omniscan. In addition, very high concentrations of Gd were observed in the animals treated with Omniscan, and, to a lesser extent, in animals treated with OptiMARK. Significantly lower levels of Gd were found after the treatment with ionic linear agents and even less after the treatment with macrocyclic agents. The data in this investigation strongly suggest that the stability of the Gd-complex is a key factor for the development of NSF-like symptoms in this experimental setting. (orig.)

  10. In an animal model nephrogenic systemic fibrosis cannot be induced by intraperitoneal injection of high-dose gadolinium based contrast agents

    International Nuclear Information System (INIS)

    Langer, R.D.; Lorke, D.E.; Neidl van Gorkom, K.F.; Petroianu, G.; Azimullah, S.; Nurulain, S.M.; Singh, S.; Fuchsjäger, M.

    2012-01-01

    Aim and objective: Nephrogenic systemic fibrosis (NSF) has been reported in humans to be most likely induced by gadolinium based contrast agents (GBCA), namely by gadodiamide, gadopentetate dimeglumine, and gadoversetamide, rarely by other GBCA. The pathogenesis of NSF remains unclear; different hypotheses are under discussion. The objective of the study is to assess if in the animal model human-like NSF changes can be induced by high-dose, intraperitoneal GBCA injections over four weeks. Materials and methods: After approval by the institutional animal ethics committee, six rats each were randomly assigned to groups, and treated with seven different GBCA. Intraperitoneal (IP) injections – proven in the animal model to be effective – were chosen to prolong the animals’ exposure to the respective GBCA. GBCA doses of previous intravenous (IV) animal studies were applied. After five weeks all rats were sacrificed. Sham controls were treated with IP saline injections, employing the same regimen. Results: No findings comparable with human NSF were observed in all animals after IP treatment with all seven GBCA at daily doses of 2.5 and 5.0 mmol/kg body weight (BW). No histopathological abnormalities of all examined organs were noted. Weight loss was stated in weeks three and four with GBCA injections at doses of 5.0 mmol/kg BW, but rats regained weight after cessation of GBCA treatment. Conclusions: NSF-comparable pathological findings could not be induced by high dose intraperitoneal injection of seven GBCA

  11. Preclinical investigation to compare different gadolinium-based contrast agents regarding their propensity to release gadolinium in vivo and to trigger nephrogenic systemic fibrosis-like lesions

    Energy Technology Data Exchange (ETDEWEB)

    Sieber, Martin A.; Frenzel, Thomas; Golfier, Sven; Weinmann, Hanns-Joachim; Pietsch, Hubertus [Bayer Schering Pharma AG, TRG Diagnostic Imaging, Berlin (Germany); Lengsfeld, Philipp [Bayer Schering Pharma AG, GMA DG Diagnostic Imaging, Berlin (Germany); Schmitt-Willich, Heribert [Bayer Schering Pharma AG, GDD Diagnostic Imaging, Berlin (Germany); Siegmund, Fred; Walter, Jakob [Bayer Schering Pharma AG, Nonclinical Drug Safety, Berlin (Germany)

    2008-10-15

    Recent reports suggest that nephrogenic systemic fibrosis (NSF) is associated with the administration of gadolinium (Gd)-based contrast agents (GBCAs) and in particular with the stability of the Gd-complex. The aim of this investigation was to compare GBCAs and their potential to trigger NSF. Forty-two healthy male rats received repeated intravenous injections of six different GBCAs at high doses to simulate the exposure seen in patients with severe renal dysfunction. Histopathological and immunohistochemical analysis of the skin was performed, and the concentrations of Gd, zinc and copper were measured in several tissues by inductive coupled plasma atomic emission spectroscopy. Macroscopic and histological skin changes similar to those seen in NSF patients were only observed in rats receiving Omniscan. In addition, very high concentrations of Gd were observed in the animals treated with Omniscan, and, to a lesser extent, in animals treated with OptiMARK. Significantly lower levels of Gd were found after the treatment with ionic linear agents and even less after the treatment with macrocyclic agents. The data in this investigation strongly suggest that the stability of the Gd-complex is a key factor for the development of NSF-like symptoms in this experimental setting. (orig.)

  12. In an animal model nephrogenic systemic fibrosis cannot be induced by intraperitoneal injection of high-dose gadolinium based contrast agents

    Energy Technology Data Exchange (ETDEWEB)

    Langer, R.D., E-mail: rlanger@uaeu.ac.ae [Faculty of Medicine and Health Sciences (FMHS), United Arab Emirates University, Al Ain (United Arab Emirates); Lorke, D.E. [Florida International University, Miami, FL (United States); Neidl van Gorkom, K.F. [Faculty of Medicine and Health Sciences (FMHS), United Arab Emirates University, Al Ain (United Arab Emirates); Petroianu, G. [Florida International University, Miami, FL (United States); Azimullah, S.; Nurulain, S.M.; Singh, S. [Faculty of Medicine and Health Sciences (FMHS), United Arab Emirates University, Al Ain (United Arab Emirates); Fuchsjäger, M. [Al Ain Hospital, MUV-VAMED, Al Ain (United Arab Emirates)

    2012-10-15

    Aim and objective: Nephrogenic systemic fibrosis (NSF) has been reported in humans to be most likely induced by gadolinium based contrast agents (GBCA), namely by gadodiamide, gadopentetate dimeglumine, and gadoversetamide, rarely by other GBCA. The pathogenesis of NSF remains unclear; different hypotheses are under discussion. The objective of the study is to assess if in the animal model human-like NSF changes can be induced by high-dose, intraperitoneal GBCA injections over four weeks. Materials and methods: After approval by the institutional animal ethics committee, six rats each were randomly assigned to groups, and treated with seven different GBCA. Intraperitoneal (IP) injections – proven in the animal model to be effective – were chosen to prolong the animals’ exposure to the respective GBCA. GBCA doses of previous intravenous (IV) animal studies were applied. After five weeks all rats were sacrificed. Sham controls were treated with IP saline injections, employing the same regimen. Results: No findings comparable with human NSF were observed in all animals after IP treatment with all seven GBCA at daily doses of 2.5 and 5.0 mmol/kg body weight (BW). No histopathological abnormalities of all examined organs were noted. Weight loss was stated in weeks three and four with GBCA injections at doses of 5.0 mmol/kg BW, but rats regained weight after cessation of GBCA treatment. Conclusions: NSF-comparable pathological findings could not be induced by high dose intraperitoneal injection of seven GBCA.

  13. Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.

    Science.gov (United States)

    Bai, Ying; Chen, Yibing; Kong, Xiangdong

    2018-02-02

    It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI. A novel 22,110 bp deletion comprising AVPR2 and ARH4GAP4 genes was identified by PCR mapping, long range PCR and sanger sequencing. The deletion happened perhaps due to the 4-bp homologous sequence (TTTT) at the junctions of both 5' and 3' breakpoints. The gross deletion co-segregates with NDI. After analyzing available data of putative clinical signs of AVPR2 and ARH4GAP4 deletion, we reconsider the potential role of AVPR2 deletion in short stature. We identified a novel 22.1-kb deletion leading to X-linked NDI in a Chinese pedigree, which would increase the current knowledge in AVPR2 mutation.

  14. Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.

    Science.gov (United States)

    Knops, Noël B B; Bos, Krista K; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J

    2008-07-15

    We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism. 2008 Wiley-Liss, Inc.

  15. SIMS imaging of gadolinium isotopes in tissue from Nephrogenic Systemic Fibrosis patients: Release of free Gd from magnetic resonance imaging (MRI) contrast agents

    Energy Technology Data Exchange (ETDEWEB)

    Abraham, Jerrold L. [Department of Pathology, SUNY Upstate Medical University, Syracuse, New York (United States); Chandra, Subhash [Cornell SIMS Laboratory, Department of Earth and Atmospheric Sciences, Cornell University, Ithaca, NY 14853 (United States)], E-mail: sc40@cornell.edu; Thakral, Charu [Department of Pathology, SUNY Upstate Medical University, Syracuse, New York (United States); Abraham, Joshua M. [Cornell SIMS Laboratory, Department of Earth and Atmospheric Sciences, Cornell University, Ithaca, NY 14853 (United States)

    2008-12-15

    Recently, Gd-based magnetic resonance imaging (MRI) contrast agents (GBMCA) have been linked to a new disease, Nephrogenic Systemic Fibrosis (NSF), with skin and systemic toxicity and death in certain patients with renal failure. Due to widespread use of GBMCA in diagnostic MRI, it is essential to study their excretion, metabolism, and target sites in cells and tissues. A CAMECA IMS-3f SIMS ion microscope and scanning electron microscopy (SEM) with energy dispersive X-ray spectroscopy (EDS) were used for imaging Gd isotopes in relation to calcium distributions in histologic sections of human tissues. SIMS imaging revealed two types of Gd localization in skin biopsies of patients who received GBMCA. The Gd was present in micrometer size deposits in association with calcium, and in detectable amounts in a more diffuse cellular distribution. Only the Gd-containing deposits associated with Ca and P were detectable using SEM/EDS. As only insoluble deposits remain in the biopsy tissues after aqueous and organic solvent processing of the tissue, our observations support release of free Gd from the GBMCA and selective localization of insoluble Gd in the target tissue from patients with NSF. This study opens new novel applications of SIMS for characterization of the safety of GBMCA.

  16. Capnografia volumétrica como meio de detectar obstrução pulmonar periférica precoce em pacientes com fibrose cística

    Directory of Open Access Journals (Sweden)

    Maria Ângela G. O. Ribeiro

    2012-12-01

    Full Text Available OBJETIVO: Comparar a espirometria e a capnografia volumétrica (CapV para determinar se os valores amostrados pela capnografia acrescentam informações sobre doenças pulmonares precoces em pacientes com fibrose cística (FC. MÉTODOS: Este foi um estudo do tipo corte transversal envolvendo pacientes com FC: Grupo I (42 pacientes, 6-12 anos de idade e Grupo II (22 pacientes, 13-20 anos de idade. Os grupos controle correspondentes eram formados por 30 e 50 indivíduos saudáveis, respectivamente. A capacidade vital forçada (CVF, o volume expiratório forçado no primeiro segundo (VEF1 e a relação VEF1/CVF foram determinados pela espirometria. Através da CapV, medimos a saturação periférica de oxigênio (SpO2, a frequência respiratória (FR, o tempo inspiratório (TI, o tempo expiratório (TE e o slope da fase III normalizado pelo volume corrente (slope da fase III/Vc. RESULTADOS: Em comparação com os grupos controle, todos os pacientes com FC apresentaram valores de slope da fase III/Vc (p < 0,001 mais altos independentemente do estágio de doença pulmonar. O slope da fase III/Vc foi significantemente mais alto nos 24 pacientes que tiveram resultados normais de espirometria (p = 0,018. Os pacientes do Grupo II apresentaram valores de CVF, VEF1, VEF1/CVF (p < 0,05 e SpO2 (p < 0,001 mais baixos que os pacientes do Grupo I. Os pacientes do Grupo II, comparados com os do Grupo Controle II, apresentaram FR (p < 0,001 mais alta e valores de TI e TE (p < 0,001 mais baixos. CONCLUSÕES: Todos os pacientes com FC mostraram ter valores mais altos de slope da fase III/Vc quando comparados com os pacientes dos grupos controle. A CapV identificou a heterogeneidade da distribuição da ventilação nas vias aéreas periféricas dos pacientes com FC que apresentaram espirometria normal.

  17. Colonização por Staphylococcus aureus resistente à meticilina: Que impacto na morbilidade de doentes pediátricos com fibrose quística?

    Directory of Open Access Journals (Sweden)

    Joana Fermeiro

    2010-07-01

    Full Text Available Resumo: Introdução: Ao Staphylococcus aureus resistente à meticilina (MRSA é classicamente reconhecido um papel patogénico no âmbito da fibrose quística (FQ.Objectivos: Avaliação da evolução da prevalência e incidência da colonização por MRSA, impacto clínico no ano após o primeiro isolamento, factores de risco e padrão de resistência antimicrobiana.Métodos: Estudo retrospectivo dos doentes pediátricos colonizados por MRSA seguidos no centro de FQ do Hospital de Santa Maria de 2003 a 2007.Resultados: O MRSA foi isolado em secreções respiratórias de 12 dos 60 doentes seguidos durante este período (colonização crónica em 3 doentes. A idade média à data do primeiro isolamento foi de 9 anos e 10 meses e o tempo médio entre o diagnóstico de FQ e a aquisição de MRSA de 5 anos e 7 meses.Verificou-se um aumento da prevalência e incidência de colonização por MRSA, com um máximo atingido em 2007 (prevalência 14,3% e incidência 8,9%. Quatro doentes cumpriram antibioticoterapia profiláctica antiestafilocócica com flucloxacilina.No ano após o primeiro isolamento de MRSA, constatou-se um aumento do número de dias de internamento em 4 doentes (2 com colonização crónica e deterioração da função pulmonar em 5, incluindo a totalidade dos doentes com colonização crónica. Apenas um doente apresentou diminuição de percentil de índice de massa corporal.As resistências mais frequentemente encontradas foram à rifampicina e à clindamicina.Conclusões: Este estudo revelou ocorrência de deterioração clínica relevante em doentes com colonização crónica por MRSA, reforçando a importância da implementação de estratégias eficazes e precoces de erradicação.Rev Port Pneumol 2010; XVI (4: 527-542 Abstract: Background: Methicillin-resistant Staphylococcus aureus (MRSA plays a well-recognised pathogenic role in cystic fibrosis (CF.Aims: To evaluate the prevalence and incidence of colonisation by MRSA

  18. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

    Science.gov (United States)

    Demura, Masashi; Takeda, Yoshiyu; Yoneda, Takashi; Furukawa, Kenji; Usukura, Mikiya; Itoh, Yuji; Mabuchi, Hiroshi

    2002-01-01

    Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5'-TGAAGG-3') and polypurine runs, known as the arrest site of polymerase alpha, were detected in the vicinity of the deletion junction. Inverted repeats (7/8 matches), believed to potentiate DNA loop formation, flank the deletion breakpoint. We propose this deletion to be the result of slipped mispairing during DNA replication. In the case of the 26.3 kb deletion, the 12,945 bp inverted region with the 10,003 bp internal deletion was accompanied with the 2,509 bp deletion in the 5'-side and the 13,785 bp deletion in the 3'-side. We defined three deletion junctions in this rearrangement (DJ1, DJ2, and DJ3) from the 5'-side. The surrounding sequence of DJ1 (5'-CCC-3') closely resembled that of DJ3 (5'-AGGG-3') (DJ1; 5'-cCCCgaggg-3', DJ3; 5'-ccccAGGG-3'), and DJ1 was located in the 5'-side of DJ3 without any overlapping in sequence. The immunoglobulin class switch (ICS) motif (5'-TGGGG-3') was found around the complementary sequence of DJ3. There was a 10-base palindrome (5'-aGACAtgtct-3') in the alignment of the DJ2 (5'-GACA-3') region. From these findings, we propose a novel mutation process with the rearrangement probably resulting from stem-loop induced non-homologous recombination in an ICS-like fashion. Both patients, despite lacking ARHGAP4, had no morphological, clinical, or laboratory abnormalities except for those usually found in patients with NDI. Copyright 2001 Wiley-Liss, Inc.

  19. Adrenal and nephrogenic hypertension: an image quality study of low tube voltage, low-concentration contrast media combined with adaptive statistical iterative reconstruction.

    Science.gov (United States)

    Li, Zhen; Li, Qiong; Shen, Yaqi; Li, Anqin; Li, Haojie; Liang, Lili; Hu, Yao; Hu, Xuemei; Hu, Daoyu

    2016-09-01

    The aim of this study was to investigate the effect of using low tube voltage, low-concentration contrast media and adaptive statistical iterative reconstruction (ASIR) for reducing the radiation and iodine contrast doses in adrenal and nephrogenic hypertension patients. A total of 148 hypertension patients who were suspected for adrenal lesions or renal artery stenoses were assigned to two groups and. Group A (n=74) underwent a low tube voltage, low molecular weight dextran enhanced multi-detector row spiral CT (MDCT) (80 kVp, 270 mg I/mL contrast agent), and the raw data were reconstructed with standard filtered back projection (FBP) and ASIR at four different levels of blending (20%, 40%, 60% and 80%, respectively). The control group (Group B, n=74) underwent conventional MDCT (120 kVp, 370 mg I/mL contrast agent), and the data were reconstructed with FBP. The CT values, standard deviation (SD), signal-noise-ratio (SNR) and contrast-noise-ratio (CNR) were measured in the renal vessels, normal adrenal tissue, adrenal neoplasms and subcutaneous fat. The volume CT dose index (CTDIvol ) and dose length product (DLP) were recorded, and an effective dose (ED) was obtained. Two-tailed independent t-tests, paired Chi-square tests and Kappa consistency tests were used for statistical analysis of the data. The CTDIvol , DLP and total iodine dose in group A were decreased by 47.8%, 49.0% and 26.07%, respectively, compared to group B (Pcontrast media and 60% ASIR provides similar enhancement and image quality with a reduced radiation dose and contrast iodine dose. © 2016 John Wiley & Sons Ltd.

  20. P2Y12 Receptor Localizes in the Renal Collecting Duct and Its Blockade Augments Arginine Vasopressin Action and Alleviates Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Zhang, Yue; Peti-Peterdi, Janos; Müller, Christa E; Carlson, Noel G; Baqi, Younis; Strasburg, David L; Heiney, Kristina M; Villanueva, Karie; Kohan, Donald E; Kishore, Bellamkonda K

    2015-12-01

    P2Y12 receptor (P2Y12-R) signaling is mediated through Gi, ultimately reducing cellular cAMP levels. Because cAMP is a central modulator of arginine vasopressin (AVP)-induced water transport in the renal collecting duct (CD), we hypothesized that if expressed in the CD, P2Y12-R may play a role in renal handling of water in health and in nephrogenic diabetes insipidus. We found P2Y12-R mRNA expression in rat kidney, and immunolocalized its protein and aquaporin-2 (AQP2) in CD principal cells. Administration of clopidogrel bisulfate, an irreversible inhibitor of P2Y12-R, significantly increased urine concentration and AQP2 protein in the kidneys of Sprague-Dawley rats. Notably, clopidogrel did not alter urine concentration in Brattleboro rats that lack AVP. Clopidogrel administration also significantly ameliorated lithium-induced polyuria, improved urine concentrating ability and AQP2 protein abundance, and reversed the lithium-induced increase in free-water excretion, without decreasing blood or kidney tissue lithium levels. Clopidogrel administration also augmented the lithium-induced increase in urinary AVP excretion and suppressed the lithium-induced increase in urinary nitrates/nitrites (nitric oxide production) and 8-isoprostane (oxidative stress). Furthermore, selective blockade of P2Y12-R by the reversible antagonist PSB-0739 in primary cultures of rat inner medullary CD cells potentiated the expression of AQP2 and AQP3 mRNA, and cAMP production induced by dDAVP (desmopressin). In conclusion, pharmacologic blockade of renal P2Y12-R increases urinary concentrating ability by augmenting the effect of AVP on the kidney and ameliorates lithium-induced NDI by potentiating the action of AVP on the CD. This strategy may offer a novel and effective therapy for lithium-induced NDI. Copyright © 2015 by the American Society of Nephrology.

  1. A musculatura epaxial e a fibrose epidural na compressão medular em cães submetidos à laminectomia dorsal modificada

    Directory of Open Access Journals (Sweden)

    Diego V. Beckmann

    2010-02-01

    Full Text Available O objetivo deste experimento foi isolar a musculatura epaxial da medula espinhal de cães submetidos à laminectomia dorsal modificada (LDM e averiguar se os músculos influenciaram na formação da fibrose epidural, na compressão medular e no aparecimento dos sinais neurológicos. Para isso, dez cães hígidos foram submetidos à LDM entre as vértebras T13 e L1 e distribuídos aleatoriamente em dois grupos denominados controle (I onde a medula espinhal permaneceu exposta sem a presença de implante, e tratado (IIonde foi colocado um im-plante a base de alumínio entre a musculatura epaxial adjacente e a medula espinhal exposta pela LDM. As avaliações constaram de exames neurológicos diários até 180 dias de pós-operatório (PO; mielografia, decorridos 15, 30 e 60 dias de PO; e avaliação macroscópica mediante a reintervenção cirúrgica. Não houve diferença durante as avaliações neurológicas. Aos 15 dias de PO, foi verificado na mielografia, que o grau de compressão da linha de contraste foi maior no grupo tratado (PThe purpose of this study was to isolate the adjacent epaxial musculature from exposed spinal cord by modified dorsal laminectomy in dogs with aluminum implant and to verify whether the muscles contribute to form epidural fibrosis, spinal cord compression, and development of neurological signs. Ten dogs were submitted to modified dorsal laminectomy between T13 and L1 and then distributed along two groups. Dogs in the group 1 remained with the spinal cord exposed without the implant; dogs in the group 2 had an aluminum implant inserted between the epaxial muscles and the exposed spinal cord. Neurological examination was daily performed until 180 days post surgery. Additionally, myelography at 15, 30, and 60 days post surgery and macroscopic evaluation of the implant at six months post surgery were done. There was no difference between groups in the neurological examination. A statistical difference in the degree of

  2. Estado de Nutrição, Hábitos Alimentares e Dispêndio Energético em Crianças com Fibrose Quística

    OpenAIRE

    Guerra, Paula; Almeida, João; Rego, Carla; Nunes, Teresa; G. Vaz, Luisa; Silva, Diana; Lourenço, Susana; Ribeiro, Laura; M. Guerra, António J.

    2014-01-01

    O presente trabalho tem como objectivo avaliar o estado de nutrição, a composição corporal e a função respiratória de um grupo de crianças com fibrose quística sem evidência clínica ou laboratorial de infecção recente, assim como o de conhecer os seus hábitos alimentares e determinar o valor do dispêndio energético de repouso medido por calorimetria indirecta e o avaliado pelas equações de Schofield, da Organização Mundial de Saúde e de Fleish.População e métodos: a população é constituída po...

  3. Os pacientes invisíveis: transtorno de estresse pós-traumático em pais de pacientes com fibrose cística The invisible patients: posttraumatic stress disorder in parents of individuals with cystic fibrosis

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    Mariana Cabizuca

    2010-01-01

    Full Text Available CONTEXTO: Apesar do crescente reconhecimento da relevância do transtorno de estresse pós-traumático (TEPT secundário a doenças médicas, ainda não existem estudos em fibrose cística. OBJETIVO: Verificar a prevalência de TEPT e dos três grupos de sintomas de estresse pós-traumático em pais de pacientes com fibrose cística. MÉTODOS: Pais de pacientes com fibrose cística (idade média: 2 a 33 anos foram recrutados da Associação Carioca de Mucoviscidose. Neste estudo transversal, os pais preencheram um questionário sociodemográfico e foram entrevistados por meio do módulo de TEPT do Structured Clinical Interview for DSM-IV. RESULTADOS: A amostra era composta de 62 indivíduos (46 mães e 16 pais. A prevalência atual de TEPT foi 6,5% e de TEPT parcial, de 19,4%. Os pais com e sem sintomas de TEPT diferiram significativamente em dois aspectos psicossociais: os primeiros relataram mais problemas emocionais (p = 0,001 e reconheceram mais frequentemente a necessidade de tratamento psiquiátrico ou psicológico (p = 0,002 que os últimos. Entretanto, somente 6,3% dos pais com sintomas de TEPT estavam em tratamento psiquiátrico/psicológico. CONCLUSÕES: Este estudo preliminar demonstrou que a frequência dos sintomas de TEPT é bem elevada em pais de pacientes com fibrose cística e, apesar de esses pais reconheceram que tem problemas emocionais e precisam de tratamento psiquiátrico/psicológico, seu sofrimento permanece invisível para o sistema médico, levando ao subdiagnóstico e ao subtratamento.BACKGROUND: Besides the growing acknowledgment of the relevance of posttraumatic stress disorder (PTSD related to medical illness, there is no study in cystic fibrosis yet. OBJECTIVE: To assess the prevalence of PTSD and the three clusters of posttraumatic stress symptoms (PTSS in parents of patients with cystic fibrosis. METHODS: Parents of patients with cystic fibrosis (age range: 2 to 33 years were drawn from the Cystic Fibrosis

  4. Avaliação de parâmetros histológicos na pneumonia intersticial usual (fibrose pulmonar idiopática Evaluation of the histological parameters in usual interstitial pneumonia (idiopathic pulmonary fibrosis

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    RIMARCS GOMES FERREIRA

    2000-12-01

    Full Text Available A fibrose pulmonar idiopática (alveolite fibrosante criptogênica é uma doença pulmonar intersticial progressiva de etiologia desconhecida, morfologicamente reconhecida como pneumonia intersticial usual. Desde a publicação de Hamman e Rich (1944 até os dias atuais, uma das grandes preocupações foi a tentativa de encontrar um marcador histológico para correlacionar com prognóstico e resposta terapêutica. A busca desta situação não tem sido muito alentadora, pois existem vários pontos duvidosos na patogênese desta doença. Admite-se que a resposta terapêutica desta entidade se relaciona com a celularidade e fibrose presentes no tecido. A proposta deste estudo é descrever os resultados de método semiquantitativo segundo a avaliação independente de dois patologistas, das alterações exsudativo-inflamatórias, reparativo-fibróticas e de vias aéreas, em 24 pacientes com diagnóstico de fibrose pulmonar idiopática, submetidos à biópsia a céu aberto. Foram analisados 14 parâmetros histológicos segundo escala de 0 a 5 para as alterações intersticiais e de 0 a 2 para o comprometimento de vias aéreas e de espaços aéreos. Da análise independente realizada pelos dois observadores constatou-se concordância significante em todas as variáveis histológicas com Kw (teste de Kappa indo de 0,47 a 0,92. Apenas na análise da intensidade da inflamação septal as discordâncias também foram significantes, sugerindo que para este parâmetro a percentagem de comprometimento tecidual deve ser previamente discutida entre os observadores. O método utilizado demonstrou ser rápido e eficiente.Idiopathic pulmonary fibrosis (cryptogenic fibrosing alveolitis is a progressive interstitial pulmonary disease of unknown etiology. Since Hamman's and Rich's (1944 reports, many studies have tried to find a histological marker for the correlation between prognosis and response to therapy. However, there are many doubts regarding pathogenesis

  5. Fibrose pulmonar idiopática simultânea a enfisema em pacientes tabagistas Idiopathic pulmonary fibrosis and emphysema in smokers

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    Denise Rossato Silva

    2008-10-01

    Full Text Available OBJETIVO: Descrever os achados clínicos e funcionais de pacientes com enfisema em lobos superiores e fibrose pulmonar idiopática (FPI em lobos inferiores, recentemente descrita na literatura. MÉTODOS: Um grupo de 11 pacientes com a presença simultânea de enfisema e FPI foi identificado retrospectivamente. Todos os pacientes realizaram tomografia computadorizada de tórax com alta resolução e provas de função pulmonar. RESULTADOS: Entre os 11 pacientes identificados, havia 8 homens e 3 mulheres, com média de idade de 70,7 ± 7,2 anos (variação, 61-86 anos. Todos os pacientes eram tabagistas (carga tabágica, 61,5 ± 43,5 anos-maço. As médias da capacidade vital forçada (CVF, do volume expiratório forçado no primeiro segundo (VEF1 e da relação VEF1/CVF foram 72,1% ± 12,7%, 68,2% ± 11,9% e 74,4 ± 10,8, respectivamente. Os volumes pulmonares foram normais em 7 pacientes. Um padrão restritivo foi observado em 3 pacientes e hiperinsuflação estava presente em um. A capacidade de difusão pulmonar apresentou redução moderada a grave em todos os pacientes (média, 27,7% ± 12,9% do previsto. No teste da caminhada de seis minutos, realizado por 10 pacientes, a distância caminhada média foi de 358,4 ± 143,1 m, ocorrendo dessaturação >4% em 9 pacientes. Achados ecocardiográficos sugestivos de hipertensão pulmonar estavam presentes em 4 pacientes (média da pressão sistólica da artéria pulmonar, 61,8 mmHg; variação, 36-84 mmHg. CONCLUSÕES: A presença simultânea de enfisema e FPI causa alterações características nas provas de função pulmonar. O achado mais importante é a discrepância entre a capacidade de difusão e a espirometria.OBJECTIVE: To describe the clinical and functional findings recently reported in the medical literature for patients diagnosed with emphysema involving the upper lobes and idiopathic pulmonary fibrosis (IPF involving the lower lobes. METHODS: Eleven patients with emphysema and IPF

  6. Valor preditivo de marcadores séricos de fibrose hepática em pacientes portadores de hepatite crônica viral C Predictive value of serum markers of hepatic fibrosis in patients with chronic hepatitis C

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    Leila Maria Soares Tojal de Barros Lima

    2008-06-01

    Full Text Available INTRODUÇÃO: Os marcadores séricos têm sido empregados na avaliação da fibrose hepática em pacientes portadores de hepatite crônica C (HCC. OBJETIVOS: Avaliar a capacidade do índice aspartato aminotransferase (AST/alanina aminotransferase (ALT, dos níveis séricos de gama-glutamiltransferase (GGT, contagem de plaquetas, do índice AST/plaquetas (APRI e do ácido hialurônico (AH em predizer a intensidade da fibrose hepática na HCC e a variação desses marcadores após tratamento com interferon. PACIENTES E MÉTODOS: Em 72 pacientes portadores de hepatite C determinamos no soro o índice AST/ALT, GGT, plaquetas, índice APRI (obtido pelo quociente AST/plaquetas e o AH, que foram comparados ao estadiamento histológico, segundo os critérios de METAVIR. Receberam tratamento com interferon e ribavirina 65 pacientes. Os indivíduos que concluíram o tratamento (n = 33 realizaram nova dosagem dos marcadores séricos de fibrose para comparar com os níveis pré-tratamento. RESULTADOS: Observamos que a GGT, a contagem de plaquetas, o índice APRI e o AH se correlacionaram com estádio de doença hepática (p INTRODUCTION: Serum markers have been used in the assessment of liver fibrosis in patients with chronic hepatitis C (CHC. AIMS: We evaluated the capacity of aspartate aminotransferase (AST/alanine aminotransferase (ALT ratio, gama-glutamyltransferase (GGT levels, platelet count, the AST to platelet ratio index (APRI and serum hyaluronic acid (HA to predict the intensity of hepatic fibrosis in patients with CHC and the variation of these markers after therapy with interferon. PATIENTS AND METHODS: In 72 patients with hepatitis C, AST/ALT ratio, GGT levels, platelet count, the APRI index (calculated as the ratio of AST to platelets and serum HA concentration were determined and compared to histological staging according to the scoring system of METAVIR. Sixty-five patients received interferon and ribavirin therapy. The individuals that

  7. Avaliação e recomendações nutricionais para crianças e adolescentes com fibrose cística Nutritional assessment and recommendations for children and adolescents with cystic fibrosis

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    Célia Regina M. M. Chaves

    2012-01-01

    Full Text Available OBJETIVO: Revisar e discutir evidências sobre a avaliação do estado nutricional e as recomendações para o tratamento nutricional de crianças e adolescentes com fibrose cística. FONTES DE DADOS: Bancos de dados MEDLINE (versão PubMed e Latin American and Caribbean Center on Health Sciences Information (LILACS, entre 1984 a 2009. Aplicou-se a combinação dos seguintes descritores: fibrose cística, estado nutricional, criança e adolescente - em inglês e português. SÍNTESE DOS DADOS: A fibrose cística é uma doença genética, de evolução crônica, progressiva e fatal. Resulta do defeito na proteína reguladora transmembrana que regula a condução de cloro e, consequentemente, o fluxo de sódio e água através da membrana apical das células epiteliais. Pacientes fibrocísticos são vulneráveis à desnutrição, que resulta do desequilíbrio entre ingestão alimentar, gasto e perdas energéticas. Novos conhecimentos sobre a fisiopatologia da doença, adquiridos nas últimas décadas, resultaram em mudanças significativas nas atuais recomendações energéticas e principalmente de lipídeos. A importância da nutrição no bem-estar e sobrevida dos fibrocísticos está bem estabelecida, assim como a associação entre a desnutrição e a deterioração da função pulmonar. Existem múltiplos fatores inter-relacionados que afetam o estado nutricional, tais como, mutação genética, insuficiência pancreática, ressecção intestinal, perda de sais e ácidos biliares, refluxo gastroesofágico, inflamação e infecções pulmonares, diabetes e condições emocionais. CONCLUSÕES: O monitoramento nutricional e o aconselhamento dietético são elementos chave no manejo de crianças e adolescentes com fibrose cística com o intuito de controlar a sintomatologia e a progressão da doença, proporcionando melhor qualidade de vida.OBJECTIVE: To review and discuss evidence on the nutritional status assessment and recommendations for

  8. Forma acelerada da fibrose pulmonar idiopática no pulmão nativo após transplante pulmonar unilateral Accelerated form of interstitial pulmonary fibrosis in the native lung after single lung transplantation

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    Rogério Rufino

    2007-12-01

    Full Text Available Relatamos o caso de um paciente de 56 anos submetido a transplante pulmonar unilateral esquerdo em decorrência de fibrose pulmonar idiopática (FPI. No pós-operatório imediato, sob intensa imunossupressão, houve progressão rápida da FPI no pulmão nativo direito, confirmada pela biópsia pulmonar videotoracoscópica, necessitando de ventilação mecânica durante 104 dias até a realização de outro transplante pulmonar à direita. Obteve alta hospitalar após o 26º dia do segundo pós-operatório.We report the case of a 56-year-old patient who underwent left single lung transplantation for idiopathic pulmonary fibrosis (IPF. Despite the high level of immunosuppression after the surgery, there was rapid progression to IPF in the native (right lung as demonstrated by thoracoscopic lung biopsy. After 104 days on mechanical ventilation (MV, the patient underwent right lung transplant and was discharged from the hospital on postoperative day 26.

  9. EVOLUÇÃO DA FIBROSE BILIAR SECUNDÁRIA EM RATOS TRATADOS MEDIANTE DERIVAÇÃO BÍLIO-DUODENAL OU BÍLIO-JEJUNAL COM AL��A DE ROUX MEDINDO 5, 10 E 15 CM

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    Pandolfi Jr. H.

    2001-01-01

    Full Text Available A modalidade de derivação bílio-digestiva empregada no tratamento da colestase extra-hepática crônica pode influenciar na reparação das lesões hepáticas. Avaliou-se o desempenho das derivações bílio-duodenal e bílio-jejunal em Y de Roux com alça exclusa de diferentes comprimentos na reparação das lesões morfológicas e funcionais do fígado de ratos com fibrose biliar secundária. Foram utilizados ratos Wistar, com 15 dias de obstrução biliar, alocados em 5 grupos de 6 animais. O grupo OB caracterizou as alterações da fibrose biliar. Os animais remanescentes foram tratados mediante derivação com o duodeno (grupo DBD, e com o jejuno, em alça exclusa de 5cm (grupo DBJ5, 10cm (grupo DBJ10 e 15cm (grupo DBJ15, sendo reavaliados 3 meses depois. Outros 6 animais foram submetidos à intervenção simulada e considerados grupo controle (IS. Todos animais foram submetidos à avaliação morfométrica do fígado, análise bioquímica do sangue e microbiológica da bile, estudo da função mitocondrial hepática e verificação do peso úmido do fígado e do baço. Na análise estatística adotou-se o nível de significância de 5%. Houve aumento significativo do peso estimado, em g/Kg de peso corporal, dos ductos biliares, da fibrose e dos hepatócitos nos animais do grupo OB (medianas de 1,30; 10,03 e 37,0 em relação aos animais controles (IS (medianas de 0,03; zero e 29,37. Após tratamento, ocorreu regressão significativa do peso estimado dos ductos biliares e da fibrose, com valores medianos de 0,22 e 0,22 para o grupo DBD, 0,45 e 3,31 para o grupo DBJ5 e 0,22 e 5,0 para o grupo DBJ15. Houve regressão significativa do peso estimado dos hepatócitos apenas nos grupos derivados com o jejuno, com valores medianos de 31,93; 24,46 e 28,52. Ocorreu aumento significativo do peso úmido do fígado e do baço no grupo OB (medianas em g/Kg de peso corporal de 49,85 e 5,71 em relação ao grupo IS (30,0 e 3,04. Houve regress

  10. Prevalência de doença mineral óssea em adolescentes com fibrose cística Prevalence of bone mineral disease among adolescents with cystic fibrosis

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    Reinaldo José do Amaral Caldeira

    2008-02-01

    Full Text Available OBJETIVO: Avaliar a prevalência de doença mineral óssea em adolescentes com fibrose cística e associar os achados com as variáveis estudadas. MÉTODOS: Foram selecionados 37 adolescentes, dos quais foram avaliados: estado nutricional pelos índices de altura/idade e massa corporal/idade; densidade mineral óssea da coluna lombar e corpo inteiro por densitometria com emissão de raio X de dupla energia; ingestão dietética diária pelo registro alimentar de 3 dias; e prova de função pulmonar pelo volume expiratório forçado no primeiro segundo. RESULTADOS: A média de idade foi de 13,2 (±2,8 anos. O estado nutricional adequado foi de 70,3 e 75,7% pelos índices de altura/idade e de massa corporal/idade, respectivamente; 54,1% dos pacientes apresentaram redução da densidade mineral óssea para coluna lombar e 32,5% para corpo inteiro. Houve correlação positiva entre densidade mineral óssea e índice de massa corporal (p = 0,04. A doença pulmonar e a insuficiência pancreática apresentaram correlação com a alteração da densidade mineral óssea. O inquérito alimentar revelou percentuais de adequação para o cálcio, fósforo e calorias, de acordo com a recomendação nutricional preconizada pelo Consenso Europeu de Fibrose Cística. Essas variáveis não se mostraram estatisticamente significantes na análise multivariada. CONCLUSÃO: A prevalência de doença mineral óssea é alta na adolescência. O estado nutricional adequado, a reposição de enzimas pancreáticas e o controle da doença pulmonar podem ter efeito protetor para a massa óssea.OBJECTIVE: To evaluate the prevalence of bone mineral disease among adolescents with cystic fibrosis and to relate the findings with the variables studied. METHODS: The study enrolled 37 adolescents who were assessed for: nutritional status according to height/age and body mass/age ratios; bone mineral density of the lumbar spine and entire body by densitometry with dual emission X

  11. Fibrose pulmonar secundária à amiodarona – A propósito de um caso clínico

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    Marta N. Silva

    2006-11-01

    Full Text Available Resumo: A amiodarona é um eficaz fármaco anti-arrítmico usado para tratar arritmias ventriculares e supra-ventriculares, mas não isento de reacções adversas. A toxicidade pulmonar é uma delas, relativamente rara (5 a 10% dos casos, e pode ser fatal. Há vários factores que aumentam a susceptibilidadade para esta toxicidade, tais como a idade avançada e a doença pulmonar preexistente.Apresentamos um caso clínico de toxicidade pulmonar induzida pela amiodarona (fibrose pulmonar num doente do sexo masculino, de 81 anos. Estava medicado com este fármaco, desde há 5 anos, com uma dose diária de 200 mg.Após a suspensão do fármaco e tratamento com corticosteróides sistémicos, houve melhoria clínica, funcional e radiológica.Este caso clínico realça a necessidade de uma monitorização e diagnóstico precoce dos efeitos adversos do tratamento com a amiodarona e a dificuldade no seu diagnóstico, devido à inespecificidade dos sintomas, das manifestações clínicas e dos resultados dos exames complementares de diagnóstico.Rev Port Pneumol 2006; XII (6: 725-730 Abstract: Amiodarone is an antiarrhytmic drug and it is used to treat supraventricular or ventricular rhythm disturbances. Nevertheless it is not free of side effects. Amiodarone-induced pulmonary toxicity is one of them and is relatively rare (5 to 10% of cases and can be fatal. There are several cumulative factors that may enhance susceptibility to pulmonary toxicity, such as advanced age and pre-existing pulmonary dysfunction.We present a case study of amiodarone-induced toxicity (pulmonary fibrosis in an 81-year-old man. The patient had been treated with amiodarone for five years in daily dose 200 mg/day.After withdrawing the drug and systemic corticoste-roid therapy, clinical, functional and radiological improvement was observed.This case confirms the needs of a vigilant monitoring and early diagnosis of

  12. Fibrose maciça progressiva em trabalhadores expostos à sílica: achados na tomografia computadorizada de alta resolução Progressive massive fibrosis in silica-exposed workers: high-resolution computed tomography findings

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    Ângela Santos Ferreira

    2006-12-01

    Full Text Available OBJETIVO: Avaliar as características radiológicas das massas conglomeradas pela tomografia computadorizada de alta resolução de tórax. MÉTODOS: Foram selecionados 75 pacientes silicóticos, a maioria jateadores de areia, portadores de fibrose maciça progressiva, atendidos no Hospital Universitário Antônio Pedro entre 1986 e 2004. Os pacientes foram submetidos a avaliação clínica, radiografia simples de tórax e tomografia computadorizada de alta resolução. RESULTADOS: Mais da metade dos pacientes com silicose complicada mostrou na radiografia de tórax grandes opacidades dos tipos B e C, denotando a gravidade da doença nesses pacientes. Dos 75 casos, apenas um apresentou massa unilateral simulando câncer de pulmão. Quarenta e quatro pacientes realizaram tomografia computadorizada de alta resolução do tórax. As massas predominaram nos terços superiores e posteriores (88,6%. Broncograma aéreo e calcificações no interior das massas foram observados em 70,4% e 63,8% dos casos, respectivamente. História de tuberculose foi relatada em 52% dos pacientes estudados. CONCLUSÃO: Na grande maioria dos casos as massas eram bilaterais, predominando nas regiões póstero-superiores dos pulmões, com broncogramas aéreos e calcificações de permeio. Associação com calcificações linfonodais foi um achado freqüente. A exposição a elevadas concentrações de poeira e a tuberculose foram consideradas fatores de risco para o desenvolvimento da fibrose maciça progressiva.OBJECTIVE: To evaluate the radiological characteristics of conglomerate masses using high-resolution computed tomography of the chest. METHODS: From among the patients treated between 1986 and 2004 at the Antonio Pedro University Hospital, 75 patients with silicosis and massive fibrosis, most working in the field of sandblasting, were selected for study. These patients were submitted to a clinical evaluation, chest X-ray and high-resolution computed tomography of

  13. Kwashiorkor e distúrbio de coagulação: apresentação atípica de fibrose cística Kwashiorkor and coagulation disturbance: atypical presentation of cystic fibrosis

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    Michelle de Oliveira T. Sundell

    2012-01-01

    Full Text Available OBJETIVO: Enfatizar a apresentação clínica precoce da fibrose cística (FC em lactente com Kwashiorkor e distúrbio de coagulação, decorrente de hipovitaminose K. DESCRIÇÃO DO CASO: Paciente com três meses e meio, sexo feminino, nascida a termo, peso de 2655g, estatura de 46cm, foi encaminhada para investigação de lesões perineais associadas à monilíase de difícil controle, refratária a diversos antifúngicos e corticoides. Quadro geral caracterizado por baixo ganho ponderal, edema e diarreia. Admissão hospitalar para investigação com hipótese diagnóstica de Kwashiorkor de origem primária ou secundária. Paciente mantida em aleitamento materno exclusivo, sendo observadas perda ponderal e persistência da diarreia. Na internação, foi iniciado tratamento de infecção do trato urinário. A paciente evoluiu com hemorragia digestiva alta e sangramento pela flebotomia em safena direita, sendo identificada coagulopatia responsiva à vitamina K e plasma fresco congelado. Na evolução, foi confirmada esteatorreia e hipoalbuminemia; as sorologias para sífilis, toxoplasmose, mononucleose, citomegalovírus, rubéola, HIV e hepatite B, apresentaram resultado negativo e a pesquisa da mutação ∆F508 heterozigoto para FC foi positiva. A paciente apresentou piora do estado geral com sinais de sepse, evoluindo para óbito. O laudo necroscópico evidenciou elementos característicos de choque séptico com infecção pulmonar, sinais acentuados de desnutrição e fibrose cística do pâncreas. COMENTÁRIOS: A FC pode manifestar-se com quadro de Kwashiorkor e distúrbio de coagulação por deficiência de vitamina K. Os profissionais de saúde devem estar atentos à possibilidade de FC no diagnóstico diferencial dessa situação.OBJECTIVE: To address the clinical presentation of cystic fibrosis (CF in an infant presenting Kwashiorkor along with coagulation disturbance due to vitamin K deficiency. CASE DESCRIPTION: A female baby aged

  14. Nebulizadores: fonte de contaminação bacteriana em pacientes com fibrose cística? Nebulizers in cystic fibrosis: a source of bacterial contamination in cystic fibrosis patients?

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    Lorena Xavier Costa Brzezinski

    2011-06-01

    Full Text Available OBJETIVO: Determinar se os nebulizadores de pacientes com fibrose cística são fonte de contaminação microbiana e verificar se a técnica e a frequência de desinfecção dos nebulizadores é apropriada. MÉTODOS: Estudo de corte transversal observacional, sem grupo controle. Foram coletadas amostras de 28 pacientes com fibrose cística, no domicílio do paciente, sem aviso prévio sobre o motivo da visita. Foram colhidas três amostras por paciente: do reservatório do nebulizador, da máscara/bocal e do próprio paciente (swab da orofaringe/escarro. As amostras foram acondicionadas adequadamente e levadas para análise. Os pacientes, seus pais ou responsáveis preencheram um questionário sobre métodos de limpeza e desinfecção dos nebulizadores. RESULTADOS: Foram obtidas 84 amostras dos 28 pacientes. Destes, 15 (53,5% eram do gênero masculino. A mediana de idade foi de 11 anos (variação: 1-27 anos. Dos 28 pacientes, 15 apresentaram culturas de escarro/orofaringe positivas. As bactérias encontradas com maior frequencia foram Streptococcus aureus (8/15 e Pseudomonas aeruginosa (4/15. A cultura obtida dos nebulizadores identificou diversos patógenos, sem nenhum predominante. Não houve associações entre os resultados das culturas obtidas dos nebulizadores e aquelas dos pacientes em 27 casos (96,7%. A limpeza e a desinfecção não eram realizadas de forma adequada em 22 casos (78,6%. CONCLUSÕES: Nesta amostra de pacientes, apesar das técnicas de desinfecção inadequadas, os nebulizadores não foram uma fonte de contaminação microbianaOBJECTIVE: To determine whether nebulizers are a source of microbial contamination in patients with cystic fibrosis, as well as whether the technique and frequency of disinfection of these devices is appropriate. METHODS: This was a cross-sectional, uncontrolled observational study. Samples were collected from 28 patients with cystic fibrosis. Samples were collected at the homes of the patients, who

  15. Estudo de mutações do gene CFTR e da concentração sérica da lectina ligante de manose (MBL) em crianças com fibrose cística identificadas pela triagem neonatal

    OpenAIRE

    Ribas, Danieli Isabel Romanovitch

    2014-01-01

    Orientador: Prof. Dr. Nelson Augusto Rosário Filho Co-orientadora: Profª. Drª. Lilian Pereira Ferrari Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Medicina Interna. Defesa : Curitiba, 19/12/2014 Inclui referências Resumo: A fibrose cística é uma doença hereditária autossômica recessiva, causada por mutações no gene CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). Apresenta grande variação clínica, mesm...

  16. Perfil epidemiológico das infecções bacterianas do aparelho respiratório em doentes com fibrose quística

    Directory of Open Access Journals (Sweden)

    Sofia Quintas

    2003-07-01

    Full Text Available RESUMO: Com o intuito de caracterizar a evolução do perfil epidemiológico das infecções bacterianas do aparelho respiratório dos doentes com Fibrose Quística (FQ, os autores realizaram um estudo retrospectivo da prevalência e incidência das mesmas em 78 doentes com FQ seguidos no Centro Especializado de FQ da Clínica Universitária de Pediatria do Hospital de Santa Maria, Lisboa durante um período de 5 anos (1995-1999.A Pseudomonas aeruginosa foi a bactéria mais frequentemente isolada nos três primeiros anos do estudo (60-73%, sendo ultrapassada nos dois anos seguintes pelo Staphylococcus aureus. No entanto, a Pseudomonas aeruginosa constituiu sempre o principal agente de colonização crónica (44-59%, com um pico de início da mesma entre os 0 e os 5 anos (34%. Verificou-se ao longo dos 5 anos um aumento significativo da prevalência de colonização intermitente e crónica por Staphylococcus aureus (48% para 83% e 32% para 54%. A prevalência de isolamentos de Staphylococcus aureus resistente à meticilina e de Burkholderia cepacia quase que duplicou neste período. As taxas de isolamento e de colonização crónica por Alcaligenes xylosoxidans aumentaram bruscamente a partir de 1997 (de 3% e 0% em 1996 para 7% e 5% em 1997 e 10% e 7% em 1999. A colonização crónica por Haemophilus influenzae manteve uma prevalência média de 22%, apesar dum aumento dos isolamentos (de 42% para 61%. Em 55% dos doentes observou-se colonização crónica por dois ou mais agentes.Em função destes resultados são discutidos os esquemas terapêuticos e as medidas de prevenção de contágios que têm sido preconizados nos doentes com FQ do nosso centro.REV PORT PNEUMOL 2003; IX (4: 337-352 ABSTRACT: With the aim of characterizing the evolution of the epidemiological profile of respiratory bacterial infections of patients having Cystic Fibrosis (CF, the authors

  17. Biofilm ved kronisk rhinosinuitis og cystisk fibrose

    DEFF Research Database (Denmark)

    Fisker, Jacob; Buchwald, Christian von; Johansen, Helle Krogh

    2011-01-01

    Microbial biofilms are known to cause persistent foreign-body infections and have recently been acknowledged as involved in more than 65% of all human infections. Microbial biofilms have been detected in chronic rhinosinusitis, and chronic rhinosinusitis is mandatory in patients with cystic...

  18. Idiopatisk pulmonal fibrose er en overset sygdom

    DEFF Research Database (Denmark)

    Bendstrup, Elisabeth; Kronborg-White, Sissel; Prior, Thomas Skovhus

    2017-01-01

    Idiopathic pulmonary fibrosis is a chronic, progressive and fatal disease which primarily occurs in male patients over 60 years with a smoking history. Cryobiopsy is a new promising method for obtaining lung tissue for histologic analysis with fewer complications than surgical lung biopsy...

  19. Imaging pulmonary fibrosis; Imagerie des fibroses pulmonaires

    Energy Technology Data Exchange (ETDEWEB)

    Brauner, M.W.; Rety, F.; Naccache, J.M.; Girard, F.; Valeyre, D.F. [Hopital Avicenne, 93 - Bobigny (France). Service de radiologie et de pneumologie

    2001-02-01

    Localized fibrosis of the lung is usually scar tissue while diffuse pulmonary fibrosis is more often a sign of active disease. Chronic infiltrative lung disease may be classified into four categories: idiopathic pneumonitis, collagen diseases, granulomatosis (sarcoidosis), and caused by known diseases (pneumoconiosis, hypersensitivity pneumonitis, drug-induced lung disease, radiation). (authors)

  20. Morphometric study of the fibrosis and mast cell count in the circular colon musculature of chronic Chagas patients with and without megacolon Estudo morfométrico da fibrose e do número de mastócitos na muscular circular do cólon de chagásicos crônicos com e sem megacólon

    Directory of Open Access Journals (Sweden)

    Simone Wanderley Pinheiro

    2003-07-01

    Full Text Available A morphometric study of the circular colon musculature was performed, in which the mast cell count was determined and the connective fibrous tissue in this layer was measured. The objective was to gain better understanding of Chagas megacolon morphology and contribute towards the knowledge of fibrosis pathogenesis in Chagas megas. An evaluation was made of 15 distal sigmoid rings from Chagas patients with megacolon (MCC, 15 without megacolon (CSMC and 15 non-Chagas patients (NC. The rings were fixed in formol, embedded in paraffin, and 7mm thick sections were cut and stained using Azan-Heidenhain and Giemsa. The mast cell count and fibrosis were greater in the MCC group than in the CSMC and NC groups (p Com os objetivos de conhecer melhor a morfologia do megacólon chagásico e contribuir para o conhecimento da patogênese da fibrose dos megas, realizou-se estudo morfométrico na muscular circular do cólon, contando-se o número de mastócitos e medindo o conjuntivo fibroso nessa camada. Foram avaliados anéis do sigmóide distal de 15 chagásicos com megacólon (MCC, 15 sem megacólon (CSMC e 15 não chagásicos (NC. Os anéis foram fixados em formol, incluídos em parafina, cortados com 7mm de espessura e corados por Azan-Heidenhain e Giemsa. O número de mastócitos e a fibrose foram maiores no grupo com MCC em relação ao CSMC e NC (p < 0,05; teste de Kruskal-Wallis; não houve diferença significante entre os dois últimos grupos. Diante destes achados, é possível, que haja relação entre mastocitose e fibrose no megacólon chagásico, como já se demonstrou em outras doenças.

  1. Incidência e evolução da polipose nasal em crianças e adolescentes com fibrose cística Incidence and evolution of nasal polyps in children and adolescents with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Silke Anna Thereza Weber

    2008-02-01

    Full Text Available A polipose nasal é manifestação clínica de alerta para investigação de fibrose cística (FC. OBJETIVO: Avaliar incidência de pólipos nasais em crianças e adolescentes com FC, sua associação com idade, sexo, sintomas clínicos, achados laboratoriais e genótipo, e sua evolução com corticoterapia tópica. CASUÍSTICA E MÉTODOS: Foram avaliados sintomas clínicos, níveis de cloro no suor e mutações genéticas de 23 pacientes com FC. A polipose nasal foi investigada por exame endoscópico e quando presente, o paciente recebeu 6 meses de tratamento com corticosteróide tópico e foi realizada nova endoscopia depois. Para análise estatística utilizou-se média, desvio padrão e Teste de Fisher. RESULTADOS: 39,1% dos pacientes apresentaram polipose nasal (cinco bilateral, quatro unilateral, todos com mais de seis anos, 82,6%, pneumonias recorrentes, 87%, insuficiência pancreática e 74%, desnutrição. Não houve associação entre polipose e nível de cloro no suor, genótipo, fenótipo clínico e sintomas nasais. Houve melhora da polipose com tratamento clínico em sete pacientes, com regressão completa em seis. CONCLUSÃO: O estudo mostrou elevada incidência de polipose em crianças com FC, sendo encontrada em todos os espectros de gravidade clínica, mesmo na ausência de sintomas nasais. O tratamento com corticosteróide tópico mostrou-se eficaz. A interação de pneumopediatra e do otorrinolaringologista é fundamental para diagnóstico e seguimento.Nasal polyps are a clinical sign of alert for investigating Cystic Fibrosis (CF. AIMS: To study the incidence of nasal polyps in children and adolescents with cystic fibrosis, its possible association with age, gender, clinical manifestations, genotype and sweat chlorine level, and its evolution with topical steroid therapy. METHODS: Clinical symptoms, sweat chlorine level and genotype were studied in 23 cystic fibrosis patients. Nasal polyps were diagnosed by nasal endoscopy

  2. Prevalência da doença do refluxo gastroesofágico em pacientes com fibrose pulmonar idiopática Prevalence of gastroesophageal reflux disease in patients with idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Cristiane Dupont Bandeira

    2009-12-01

    Full Text Available OBJETIVO: Determinar a prevalência da doença do refluxo gastroesofágico (DRGE e sua apresentação clínica, além do perfil funcional do esôfago em pacientes com fibrose pulmonar idiopática (FPI. MÉTODOS: Foram avaliados prospectivamente 28 pacientes com FPI. Os pacientes foram submetidos à esofagomanometria estacionária, pHmetria de 24 h e testes de função pulmonar, assim como responderam a questionários sobre sintomas e qualidade de vida em DRGE. RESULTADOS: A prevalência de DRGE foi de 35,7%. Os pacientes foram divididos em dois grupos: grupo DRGE+ (pHmetria anormal; n = 10, e grupo DRGE- (pHmetria normal; n = 18. No grupo DRGE+, 77,7% dos pacientes apresentavam pelo menos um sintoma típico de DRGE. Nesse grupo de pacientes, 8 (80% apresentaram refluxo em posição supina, e 5 (50% apresentaram refluxo exclusivamente nessa posição. Nos grupos DRGE+ e DRGE-, respectivamente, 5 (50,0% e 7 (38,8% dos pacientes apresentaram hipotonia do esfíncter esofágico inferior, assim como 7 (70,0% e 10 (55,5% apresentaram hipomotilidade esofágica. Não houve diferenças significativas entre os grupos quanto a características demográficas, função pulmonar, apresentação clínica ou achados manométricos. CONCLUSÕES: A prevalência de DRGE nos pacientes comOBJECTIVE: To determine the prevalence of gastroesophageal reflux disease (GERD and to evaluate its clinical presentation, as well as the esophageal function profile in patients with idiopathic pulmonary fibrosis (IPF. METHODS: In this prospective study, 28 consecutive patients with IPF underwent stationary esophageal manometry, 24-h esophageal pH-metry and pulmonary function tests. All patients also completed a symptom and quality of life in GERD questionnaire. RESULTS: In the study sample, the prevalence of GERD was 35.7%. The patients were then divided into two groups: GERD+ (abnormal pH-metry; n = 10 and GERD- (normal pH-metry; n = 18. In the GERD+ group, 77.7% of the patients

  3. Padrões ventilatórios na espirometria em pacientes adolescentes e adultos com fibrose cística Respiratory patterns in spirometric tests of adolescents and adults with cystic fibrosis

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    Bruna Ziegler

    2009-09-01

    Full Text Available OBJETIVO: Avaliar os padrões dos distúrbios ventilatórios observados na espirometria em pacientes com fibrose cística (FC e suas relações com a gravidade funcional e com o comportamento dos fluxos máximos expiratórios a baixos volumes. MÉTODOS: Estudo transversal e retrospectivo, incluindo pacientes adolescentes e adultos com FC. Todos os pacientes foram submetidos à espirometria. Os pacientes foram classificados como tendo função ventilatória preservada, distúrbio ventilatório obstrutivo (DVO, DVO com CVF reduzida, sugestivo de distúrbio ventilatório restritivo (DVR ou distúrbio ventilatório combinado (DVC. Os fluxos máximos expiratórios a baixos volumes foram avaliados utilizando-se FEF25-75%, FEF75%e FEF75%/CVF. O grupo controle incluiu 65 indivíduos normais, também submetidos à espirometria. RESULTADOS: Foram incluídos 65 pacientes no grupo de estudo: 8 (12,3% com função pulmonar preservada, 18 (27,7% com DVO, 24 (36,9% com DVO com CVF reduzida, 5 (7,7% com padrão sugestivo de DVR e 10 (15,4% com DVC. O VEF1 foi significativamente menor nos grupos DVO com CVF reduzida e DVC, comparados com os outros grupos (p OBJECTIVE: To evaluate spirometric patterns of respiratory disorders and their relationship with functional severity and maximal expiratory flows at low lung volumes in patients with cystic fibrosis (CF. METHODS: A retrospective cross-sectional study including adolescents and adults with CF. All of the patients were submitted to spirometry. Patients were classified as having preserved respiratory function, obstructive lung disease (OLD, OLD with reduced FVC, presumptive restrictive lung disease (RLD or mixed obstructive and restrictive lung disease (MORLD. Maximal expiratory flows at low lung volumes were assessed using FEF25-75%, FEF75% and FEF75%/FVC. We included 65 normal subjects, also submitted to spirometry, as a control group. RESULTS: The study group included 65 patients: 8 (12.3% with preserved lung

  4. Percepção da gravidade da doença em pacientes adultos com fibrose cística Perception of disease severity in adult patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Paulo de Tarso Roth Dalcin

    2009-01-01

    Full Text Available OBJETIVO: Avaliar a percepção da gravidade da doença em pacientes com fibrose cística (FC, investigando sua relação com escore clínico, escore radiológico, testes de função pulmonar, adesão ao tratamento e percepção de autocuidado. MÉTODOS: Estudo transversal, prospectivo, envolvendo pacientes com FC atendidos em um programa para adultos com FC. A percepção da gravidade da doença, a adesão ao tratamento e o relato de autocuidado foram avaliados por questionários. Foram obtidos de todos os pacientes dados clínicos, escore clínico de Shwachman-Kulczycki, escore radiológico de Brasfield e espirometria. RESULTADOS: De 38 pacientes estudados, 3 (7,9% relataram percepção de sua saúde como muito abaixo da média; 5 (13,2%, como abaixo da média; 15 (39,5%, como na média; 10 (26.3%, como acima da média; e 5 (13,2%, como muito acima da média. A percepção da gravidade da doença correlacionou-se significativamente com o escore clínico (r = 0,43, p = 0,007, CVF (r = 0,34, p = 0,034, VEF1 (r = 0,38, p = 0,019 e com relato de autocuidado (r = 0,33, p = 0,044, mas não com o grau de adesão (r = -0,03, p = 0,842 e escore radiológico (r = 0,33, p = 0,51. CONCLUSÕES: A percepção da gravidade da doença se relacionou com medidas objetivas de gravidade da doença (escore clínico e testes de função pulmonar e com relato de autocuidado, mas não com a adesão ao tratamento.OBJECTIVE: To evaluate the perception of disease severity in patients with cystic fibrosis (CF, investigating its relationship with clinical score, radiographic score, respiratory function tests, adherence to treatment and perception of self-care practices. METHODS: Prospective, cross-sectional study involving CF patients treated in a program for adults with CF. The perception of disease severity, adherence to treatment and reported self-care practices were evaluated by means of questionnaires. Clinical data, Shwachman-Kulczycki clinical score, Brasfield

  5. Análise descritiva dos pacientes com fibrose cística em acompanhamento na Unidade de Pneumologia Pediátrica de um hospital universitário em Porto Alegre-RS = Descriptive analysis of cystic fibrosis patients followed by the Pediatric Pulmonology Unit of a university hospital in Porto Alegre-RS

    Directory of Open Access Journals (Sweden)

    Chakr, Valentina Coutinho Baldoto Gava

    2006-01-01

    Full Text Available Objetivos: Descrever o perfil de pacientes acompanhados num centro de tratamento de médio porte, especializado em fibrose cística, e comparar os dados obtidos com os encontrados na literatura atual. Métodos: Foram analisados e correlacionados dados de importância para o seguimento clínico dos pacientes com fibrose cística obtidos no banco de dados de acompanhamento dos mesmos pacientes. Os resultados foram expressos em médias ± desvio padrão (DP ou medianas e amplitude interquartil 25-75%, conforme a distribuição das variáveis. Resultados: Foram estudados 26 pacientes do sexo masculino e 22 do feminino. A idade mediana do diagnóstico foi de 0,98 anos. Dos 48 pacientes, 89,6% apresentam insuficiência pancreática e 29,1% mostraram pelo menos uma cultura positiva para Pseudomonas aeruginosa nos últimos 6 meses. Apresentavam redução dos parâmetros de função pulmonar o grupo com insuficiência pancreática (84 versus 112%; p = 0,005 e os portadores de infecção crônica por P. aeruginosa (75 versus 85%; p = 0,006. Conclusões: Os dados obtidos em nosso estudo mostram que este grupo de pacientes se apresenta de maneira concordante aos dados disponíveis na literatura quanto às características analisadas da doença. Contudo, há uma exceção marcante quanto ao diagnóstico da mesma, ainda muito tardiamente realizado no Brasil

  6. Características funcionais pulmonares e uso de broncodilatador em pacientes com fibrose cística Pulmonary function parameters and use of bronchodilators in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Lucia Harumi Muramatu

    2013-02-01

    Full Text Available OBJETIVO: Analisar as características funcionais pulmonares, a resposta farmacodinâmica a um broncodilatador e sua prescrição em pacientes com diagnóstico de fibrose cística (FC. MÉTODOS: Estudo de coorte retrospectivo de pacientes (6-18 anos com diagnóstico de FC acompanhados em um centro de referência, capazes de realizar testes de função pulmonar (TFP entre 2008 e 2010. Foram analisados CVF, VEF1 e FEF25-75%, em percentual do previsto, antes e após prova broncodilatadora (pré-BD e pós-BD, respectivamente de 312 TFP. Foram realizadas ANOVA para medidas repetidas e comparações múltiplas. RESULTADOS: Foram incluídos no estudo 56 pacientes. Desses, 37 e 19, respectivamente, tinham resultados de TFP entre 2008 e 2010 e apenas em 2009-2010, formando dois grupos. No grupo com TFP nos três anos estudados, houve redução significativa em VEF1 pós-BD em 2008-2010 (p = 0,028 e 2009-2010 (p = 0,036 e em FEF25-75% pré-BD e pós-BD em todas as comparações múltiplas (2008 vs. 2009; 2008 vs. 2010; e 2009 vs. 2010. No grupo com TFP apenas em 2009-2010, não houve diferenças significativas em nenhuma das comparações das variáveis estudadas. Dos 312 TFP, somente 24 (7,7% apresentaram resposta significativa ao broncodilatador e pertenciam a pacientes sem prescrição de broncodilatador durante o período estudado. CONCLUSÕES: Houve perda funcional, com indicação de doença pulmonar progressiva, nos pacientes com FC estudados. Houve maiores alterações no FEF25-75%, sugerindo o comprometimento inicial de vias aéreas menores.OBJECTIVE: To analyze pulmonary function parameters and pharmacodynamic response to a bronchodilator, as well as the prescription of bronchodilators, in cystic fibrosis (CF patients. METHODS: This was a retrospective cohort study involving patients 6-18 years of age, diagnosed with CF, and followed at a referral center between 2008 and 2010. We evaluated only those patients who were able to perform pulmonary

  7. Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator em pacientes com fibrose cística em um centro de referência no Brasil Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center

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    Andréia Marisa Bieger

    2012-12-01

    Full Text Available OBJETIVO: Verificar a presença da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator na população de pacientes com fibrose cística, diagnosticados pelo teste de sódio e cloro no suor, em acompanhamento no Ambulatório de Pneumologia Pediátrica da Universidade Estadual de Campinas, centro de referência no tratamento da fibrose cística. MÉTODOS: Foram analisadas 167 amostras de DNA de pacientes com fibrose cística. O genótipo dos pacientes foi determinado pela técnica de reação da polimerase e realizado cálculo para a frequência dos alelos e genótipos da mutação ΔF508. RESULTADOS: A frequência genotípica encontrada foi, respectivamente, para os genótipos -/-, ΔF508/- e ΔF508/ΔF508: 43,7% (73 pacientes, 32,9% (55 pacientes e 23,4% (39 pacientes. Do total de 334 alelos analisados, foi observada a frequência de 201 (60,18% alelos para a ausência da mutação ΔF508 e de 133 (39,82% para a presença da mutação ΔF508. O cálculo do equilíbrio de Hardy-Weinberg foi realizado, e obtivemos o valor de qui-quadrado = 16,34 (p OBJECTIVE: To verify the presence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among patients with cystic fibrosis diagnosed by the sweat test for sodium and chlorine and followed at the Pediatric Pneumology Outpatient Clinic of Universidade Estadual de Campinas, Brazil, a referral center for the treatment of cystic fibrosis. METHODS: The study analyzed 167 DNA samples from cystic fibrosis patients. Patients' genotype was determined by polymerase chain reaction, and allele and genotype frequencies of ΔF508 mutation were calculated. RESULTS: The genotype frequencies found for -/-, ΔF508/-, and ΔF508/ΔF508 genotypes were respectively: 43.7% (73 patients, 32.9% (55 patients, and 23.4% (39 patients. Of the 334 alleles analyzed, we observed a frequency of 201 (60.18% alleles for the absence of ΔF508 mutation and of 133 (39.82% for the

  8. Exercício aeróbico, treinamento de força muscular e testes de aptidão física para adolescentes com fibrose cística: revisão da literatura Exercise testing, aerobic and strength training for adolescents with cystic fibrosis: a literature review

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    Celia Regina Moutinho de Miranda Chaves

    2007-09-01

    Full Text Available São reconhecidos os benefícios da prática do exercício físico regular para pacientes com fibrose cística. Entretanto, poucos estudos envolvem pacientes adolescentes. O objetivo deste artigo foi revisar os efeitos da prática regular de exercícios aeróbicos e de força e resistência muscular para adolescentes com fibrose cística. Os principais testes de aptidão física para esta faixa etária e a importância deles para melhora do prognóstico e tratamento da doença também foram avaliados. As informações foram coletadas a partir de livro-texto e artigos publicados na literatura nacional e estrangeira nas seguintes bases de dados: LILACS, MEDLINE/PubMed, Biblioteca Cochrane e SciELO, abrangendo o período de 1994 a 2004. Foram utilizados os termos "exercise" e "cystic fibrosis" para seleção dos artigos. Esta pesquisa demonstrou que a prática de exercício aeróbico e treinamento de força muscular melhoram a desobstrução da árvore brônquica, diminuem a queda progressiva da função pulmonar, aumentam a massa muscular e a resistência ao exercício, promovem o desenvolvimento ósseo e melhoram a auto-estima e a qualidade de vida. Os melhores resultados foram obtidos com os programas de treinamento assistido, devido a sua maior regularidade.The benefits of regular physical exercises for cystic fibrosis patients are well known. Nevertheless, few studies involve adolescent patients. The objective of this article was to review the effects of regular practice of aerobic exercises, strength exercises and muscular exercises in adolescents with cystic fibrosis. The main physical fitness tests for this age bracket and their value in improving prognosis and treatment were assessed as well. Information was collected from text books and articles published in the national and foreign literature in the following databases: LILACS, MEDLINE/PubMed, Cochrane Library and SciELO, comprising the period of 1994 to 2004. The terms "exercise" and

  9. Nephrogenic systemic fibrosis: clinical picture and treatment

    DEFF Research Database (Denmark)

    Marckmann, Peter; Skov, Lone

    2009-01-01

    , and the histology of deep skin biopsies. Symptomatic treatment with intensive physiotherapy and painkillers is important, but there is no known curative medical treatment. Spontaneous remission of NSF symptoms may occur with recovery of renal function after an episode of acute renal failure, or with kidney...

  10. Validação do escore ultra-sonográfico de Williams para o diagnóstico da hepatopatia da fibrose cística Validation of the Williams ultrasound scoring system for the diagnosis of liver disease in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Eleonora D. T. Fagundes

    2004-01-01

    Full Text Available OBJETIVOS: Descrever as alterações hepáticas observadas ao exame ultra-sonográfico de fibrocísticos do Ambulatório de Fibrose Cística do Hospital das Clínicas da UFMG, comparar os achados ultra-sonográficos com critérios clínicos e bioquímicos e validar o escore de Williams para o diagnóstico de hepatopatia associada à fibrose cística. MÉTODOS: Setenta fibrocísticos foram acompanhados prospectivamente e submetidos a exame clínico, bioquímico e ultra-sonográfico. Os achados ultra-sonográficos foram comparados com os resultados do exame clínico e bioquímico. Para a validação do escore ultra-sonográfico de Williams, os critérios clínicos e bioquímicos foram utilizados como padrão-ouro. Foram calculados sensibilidade, especificidade, valor preditivo positivo e valor preditivo negativo do escore de Williams. Para os cálculos, os pacientes foram divididos em dois grupos: normal ao exame ultra-sonográfico (escore = 3 ou alterado (escore > 3. RESULTADOS: Dez pacientes preencheram os critérios clínicos e/ou bioquímicos para hepatopatia (14,3%. Todos os pacientes hepatopatas segundo os critérios clínicos e/ou bioquímicos apresentavam alguma alteração ao exame ultra-sonográfico. As alterações do parênquima hepático, borda hepática e fibrose periportal foram encontradas mais freqüentemente entre os hepatopatas, com diferença estatisticamente significativa. O escore de Williams apresentou alta especificidade (91,7%; IC 80,9-96,9, mas baixa sensibilidade (s = 50%; IC 20,1-79,9 para o diagnóstico da hepatopatia. CONCLUSÕES: O escore de Williams não constituiu um bom exame de triagem quando comparado ao exame clínico e bioquímico. Uma vez que ainda não há nenhum teste que, utilizado isoladamente, apresente sensibilidade adequada, é recomendável a utilização conjunta dos exames clínico, bioquímico e ultra-sonográfico no diagnóstico da hepatopatia associada à fibrose cística, sempre em avalia

  11. Fibrose miocárdica em pacientes com cardiomiopatia hipertrófica com alto risco para morte súbita cardíaca Fibrosis miocárdica en pacientes con cardiomiopatía hipertrófica con alto riesgo para muerte súbita cardíaca Myocardial fibrosis in patients with hypertrophic cardiomyopathy and high risk for sudden death

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    Afonso Akio Shiozaki

    2010-04-01

    Full Text Available FUNDAMENTO: A estratificação de risco para morte súbita na cardiomiopatia hipertrófica (CMH, continua a ser um verdadeiro desafio devido à grande heterogeneidade da sua apresentação, em que a maioria dos indivíduos permanecem assintomáticos por toda sua vida e outros apresentam a morte súbita como primeiro sintoma. Recentes trabalhos vêm sugerindo que a fibrose miocárdica pode constituir-se em um importante substrato para as arritmias ventriculares malignas, responsáveis pela morte súbita nesta doença. OBJETIVO: Avaliação da prevalência e quantificação da fibrose miocárdica (FM, em pacientes com CMH com alto risco ou recuperados de morte súbita, portadores de cardiodesfibrilador implantável (CDI. MÉTODOS: Vinte e oito pacientes com CMH portadores de CDI foram submetidos à tomografia computadorizada com múltiplos detectores, para realização da técnica de realce tardio, e avaliação da fibrose miocárdica. RESULTADOS: 96% dos pacientes apresentavam fibrose miocárdica (20,38 ± 15,55 gramas correspondendo a 15,96 ± 10,20% da massa miocárdica total. A FM foi significativamente mais prevalente que os demais fatores de risco clássicos para morte súbita. CONCLUSÃO: Concluímos que existe uma alta prevalência de fibrose miocárdica em pacientes com cardiomiopatia hipertrófica de alto risco ou recuperados de morte súbita, como neste grupo - portadores de cardiodesfibrilador implantável. A maior prevalência da fibrose miocárdica comparada aos fatores de risco de pior prognóstico levantam a hipótese de que a fibrose miocárdica possa ser um importante substrato potencialmente necessário na gênese das arritmias desencadeadoras da morte súbita.FUNDAMENTO: La estratificación de riesgo para muerte súbita en la cardiomiopatía hipertrófica (CMH, sigue siendo un verdadero reto debido a la gran heterogeneidad de su presentación, cuya mayoría de los individuos permanecen asintomáticos por toda su vida y otros

  12. O que é ser mãe de uma criança com fibrose cística Qué significa ser madre de un niño con fibrosis quística What is being a mother of a child with cystic fibrosis

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    Keila Okuda Tavares

    2010-12-01

    Full Text Available Conhecer o que é ser mãe de uma criança que apresenta fibrose cística é fundamental para o cuidado desses indivíduos, pois geralmente ela divide as responsabilidades relacionadas ao tratamento com o filho que apresenta essa doença grave e sem cura. Nesse sentido, este estudo teve como objetivo conhecer a vivência de ser mãe de uma criança com fibrose cística. Trata-se de um estudo descritivo-exploratório, qualitativo, de caráter fenomenológico. Foram entrevistadas 14 mulheres e a coleta de dados foi realizada por meio de uma entrevista semiestruturada. A análise das falas transcritas na íntegra seguiu direcionamentos propostos pela fenomenologia. Essa é uma experiência que a tristeza, angústia, dúvidas, sofrimento e medo estão presentes, levando essas mulheres a refletirem sobre suas vidas e a de seus filhos, promovendo mudanças em seu mundo vida e uma reorganização de toda a família.Conocer o que es ser madre de un niño con fibrosis quística es esencial para el cuidado de estas personas, porque generalmente ella divide las responsabilidades relacionadas con el tratamiento, con el niño que tiene esta enfermedad grave y sin cura. Este estudio tuvo como objetivo conocer la vivencia de ser madre de un niño con fibrosis quística. Se trata de un estudio descriptivo-exploratorio, cualitativo, fenomenológico. Fueron entrevistadas 14 mujeres y la colecta de datos se realizó por medio de una entrevista semiestructurada. El análisis de las elocuciónes transcriptas en la íntegra siguió direcciones propuestas por la fenomenologia. Esta es una experiencia donde la tristeza, angustia, dudas, sufrimiento y el temor están presentes, haciendo que esas mujeres reflexionen a respecto de sus vidas y la de sus hijos, promoviendo cambios en su mundo vida y una reorganización de toda familia.Knowing what is being a mother of a child with cystic fibrosis is essential to the care of these individuals, because she usually divides the

  13. Análise descritiva dos pacientes com fibrose cística em acompanhamento na Unidade de Pneumologia Pediátrica de um hospital universitário em Porto Alegre-RS =Descriptive analysis of cystic fibrosis patients followed by the Pediatric Pulmonology Unit of a university hospital in Porto Alegre-RS

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    Chakr, Valentina Coutinho Baldoto Gava et al.

    2006-01-01

    Full Text Available Objetivos: Descrever o perfil de pacientes acompanhados num centro de tratamento de médio porte, especializado em fibrose cística, e comparar os dados obtidos com os encontrados na literatura atual. Métodos: Foram analisados e correlacionados dados de importância para o seguimento clínico dos pacientes com fibrose cística obtidos no banco de dados de acompanhamento dos mesmos pacientes. Os resultados foram expressos em médias ± desvio padrão (DP ou medianas e amplitude interquartil 25-75%, conforme a distribuição das variáveis. Resultados: Foram estudados 26 pacientes do sexo masculino e 22 do feminino. A idade mediana do diagnóstico foi de 0,98 anos. Dos 48 pacientes, 89,6% apresentam insuficiência pancreática e 29,1% mostraram pelo menos uma cultura positiva para Pseudomonas aeruginosa nos últimos 6 meses. Apresentavam redução dos parâmetros de função pulmonar o grupo com insuficiência pancreática (84 versus 112%; p = 0,005 e os portadores de infecção crônica por P. aeruginosa (75 versus 85%; p = 0,006. Conclusões: Os dados obtidos em nosso estudo mostram que este grupo de pacientes se apresenta de maneira concordante aos dados disponíveis na literatura quanto às características analisadas da doença. Contudo, há uma exceção marcante quanto ao diagnóstico da mesma, ainda muito tardiamente realizado no Brasil. Aims: To provide a descriptive analysis of patients followed in a local cystic fibrosis treatment center and compare the collected data with those found in the literature. Methods: Relevant data for clinical follow-up of cystic fibrosis patients were used for analysis and correlation. Results: Twenty six male and twenty two female patients were studied. From 48 patients, 89,6% presented with pancreatic insufficiency and 29,1% had at least one positive culture to Pseudomonas aeruginosa in the last 6 months. The patients colonized by P. aeruginosa and the ones with pancreatic insufficiency presented with

  14. A hospitalização e o adoecimento pela perspectiva de crianças e jovens portadores de fibrose cística e osteogênese imperfeita The hospitalization and the process of becoming ill through the children's and adolescents' perspective with cystic fibrosis and osteogenesis imperfecta

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    Daniele Borges de Mello

    2010-03-01

    Full Text Available O presente artigo visa discutir os resultados de uma pesquisa realizada em um hospital localizado no município do Rio de Janeiro, considerado referência em saúde da criança, do adolescente e da mulher. Analisamos os significados da hospitalização e do adoecimento crônico na infância e adolescência pela perspectiva de crianças e adolescentes com fibrose cística e osteogênese imperfeita durante suas internações hospitalares com vistas a explorar suas vivências e suas possibilidades de expressão enquanto sujeitos de conhecimento. Para tanto, privilegiamos a observação e a construção de suas produções mediadas pelo suporte lúdico, utilizando o desenho e/ou história como relevantes vias de acesso aos conteúdos infanto-juvenis. Os dados advindos desse estudo apontam para a capacidade de aquisição e produção de conhecimento que crianças e jovens possuem acerca de sua situação de adoecimento.The present article intends to discuss the results of a study completed in a hospital located in the municipal district of Rio de Janeiro, considered most prominent for child, adolescent and woman's health. We analyzed the meanings of hospitalization and chronic illness in childhood and adolescence through the perspective of children and adolescents with cystic fibrosis and osteogenesis imperfecta during their hospitalizations in order to explore their experience and communicative possibilities as knowledgeable informants. Hence, we privileged the observation and the construction of their productions through games, using drawings and/or story-telling as a relevant approach to childhood and adolescence contents. The data collected signify the acquisition and knowledge production capacity of children and adolescents concerning their illness processes.

  15. Programa de triagem neonatal para fibrose cística no estado do Paraná: avaliação após 30 meses de sua implantação Neonatal cystic fibrosis screening program in the state of Paraná: evaluation 30 months after implementation

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    Grégor P. Chermikoski Santos

    2005-06-01

    Full Text Available OBJETIVOS: Apresentar e analisar os resultados da implantação do Programa Nacional de Triagem Neonatal em Fibrose Cística, no Paraná, após 30 meses do seu início. MÉTODOS: Foi realizado um estudo descritivo com análise dos dados da triagem feita em aproximadamente 98% dos recém-nascidos entre setembro de 2001 e abril de 2004 no laboratório do Serviço de Triagem Neonatal da Fundação Ecumênica de Proteção ao Excepcional do Paraná. As amostras de sangue para o "teste do pezinho" foram coletadas na alta hospitalar, idealmente entre o segundo e sexto dias de vida, com o envio dos papéis-filtro para a dosagem de tripsina imunorreativa por imunofluorimetria. Crianças com valores da dosagem de tripsina imunorreativa > 70 ng/ml em duas amostras distintas, nos primeiros 30 dias de vida, foram submetidas à determinação da condutividade do suor pelo método de Wescor. Com o resultado maior que 50 mMol/l procedeu-se à dosagem quantitativa de cloro e/ou sódio no suor (iontoforese por pilocarpina. RESULTADOS: De 456.982 exames realizados, 4.028 (0,9% crianças apresentaram a primeira dosagem de tripsina imunorreativa acima do ponto de corte estabelecido. Dessas, 478 (12,5% tiveram uma segunda amostra de sangue com dosagem de tripsina imunorreativa acima de 70 ng/ml, das quais, após a realização do teste de suor por condutividade, 56 (11,7% crianças foram encaminhadas para ambulatórios especializados com resultado acima de 50 mMol/l e 48 (0,01% do total de triagens tiveram o diagnóstico de fibrose cística confirmado. A incidência foi de 1:9.520 em nosso estado, embora algumas crianças ainda não tenham completado a investigação. CONCLUSÕES: A triagem neonatal para fibrose cística no estado do Paraná, de acordo com as normas do Ministério da Saúde, foi uma iniciativa pioneira no Brasil. Realizou-se o diagnóstico precocemente em muitos pacientes, mesmo os assintomáticos, fato que representa um desafio à melhora no progn

  16. Socialization of children and adolescents with cystic fibrosis: support for nursing care El proceso de socialización de niños y adolescentes con fibrosis quística: apoyo para la atención de enfermería O processo de socialização de crianças e adolescentes com fibrose cística: subsídios para o cuidado de enfermagem

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    Tainá Maués Pelúcio Pizzignacco

    2006-08-01

    salud conozcan esas demandas y las incorporen al plan de cuidados, con vistas a intervenciones efectivas que promuevan el crecimiento y desarrollo infanto-juvenil.O presente estudo tem por objetivo conhecer o dia-a-dia (escola, trabalho, atividades de lazer e interações com a família e amigos da criança e do adolescente com Fibrose Cística (FC, a partir de suas próprias vivências, bem como identificar situações que possam interferir nesse cotidiano. Os sujeitos da pesquisa são crianças e adolescentes portadores de Fibrose Cística em acompanhamento num hospital-escola do interior do estado de São Paulo. Trata-se de pesquisa com abordagem qualitativa, com coleta de dados empíricos realizada mediante análise de prontuários e entrevista aberta. Dos dados, emergiram os seguintes temas: conhecimento equivocado sobre a doença; preocupação com a auto-imagem; busca pelo autocuidado e esperança de melhorias no futuro. Os resultados evidenciam as repercussões da Fibrose Cística no processo de socialização desses pacientes, salientando a importância dos profissionais de saúde conhecerem essas demandas e incorporarem-nas ao plano de cuidados, visando a intervenções efetivas que promovam o crescimento e o desenvolvimento infanto-juvenil.

  17. Análise semiquantitativa de biópsias cirúrgicas de diferentes lobos pulmonares de pacientes com pneumonia intersticial usual/fibrose pulmonar idiopática Semiquantitative analysis of surgical biopsies of distinct lung lobes of patients with usual interstitial pneumonia/idiopathic pulmonary fibrosis

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    José Júlio Saraiva Gonçalves

    2009-07-01

    Full Text Available OBJETIVO: Avaliar as diferenças histológicas da pneumonia intersticial usual entre biópsias cirúrgicas de lobos pulmonares distintos, utilizando um escore semiquantitativo. MÉTODOS: Foram selecionados todos os pacientes com o diagnóstico de fibrose pulmonar idiopática e submetidos à biópsia cirúrgica em dois lobos distintos no Hospital São Paulo e em hospitais afiliados da Universidade Federal de São Paulo, no período entre 1995 e 2005. Foi utilizado um método semiquantitativo na avaliação histológica dos espécimes, com base em estudos prévios, aplicando-se um escore para cada local submetido à biópsia. RESULTADOS: Nenhuma diferença estatisticamente significante foi encontrada nesta amostra de pacientes que viesse alterar o estágio da doença, com base no escore utilizado. Este achado foi independente do local da biópsia (lobo médio ou segmento lingular. CONCLUSÕES: Não foram observadas diferenças histológicas significantes entre os lobos pulmonares estudados. O diagnóstico histológico definitivo de pneumonia intersticial usual não alterou o estágio da doença.OBJECTIVE: To evaluate the differences between surgical biopsies of distinct lung lobes in terms of the histopathological features of usual interstitial pneumonia, using a semiquantitative score. METHODS: We selected all of the patients diagnosed with idiopathic pulmonary fibrosis and submitted to surgical biopsy in two distinct lobes between 1995 and 2005 at the Hospital São Paulo and other hospitals operated by the Federal University of São Paulo. In the histological evaluation of the specimens, we used a semiquantitative method based on previous studies, assigning a score to each of the biopsied sites. RESULTS: In this sample of patients, we found no statistically significant differences that would alter the stage of the disease, based on the score used. This finding was independent of the biopsy site (middle lobe or lingular segment. CONCLUSIONS: No

  18. The vitamin E reduces liver lipoperoxidation and fibrosis in a model of nonalcoholic steatohepatitis A vitamina E reduz a lipoperoxidação hepática e a fibrose em modelo experimental de esteatohepatite não-alcoólica

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    Idilio Zamin Jr

    2010-03-01

    colina, bem como avaliar o papel do metformina, da vitamina E e da sinvastatina na evolução da esteatohepatite não-alcoólica. MÉTODOS: Foram estudados prospectivamente 50 ratos da linhagem Wistar, por um período de 90 dias, sendo os mesmos divididos em cinco grupos de 10 ratos. Um grupo recebeu ração convencional e os demais a dieta deficiente em metionina e colina. Dentre os quatro grupos que receberam a dieta, para um foi administrado soro fisiológico e para os demais o metformina, a vitamina E e a sinvastatina. Após o período de estudo os animais foram mortos, sendo colhido sangue para análise bioquímica e removido o fígado para análise da lipoperoxidação através do teste de substâncias reativas ao ácido tiobarbitúrico e para a realização dos exames histológicos. RESULTADOS: A dieta deficiente em metionina e colina foi capaz de induzir esteatose em 100% dos animais enquanto que esteatohepatite não-alcoólica foi diagnosticada em 27 (69,2%. Os níveis da ALT foram significativamente maiores no grupo da sinvastatina. Os níveis de AST também foram maiores no grupo da sinvastatina, mas apenas foram estatisticamente significantes em relação ao grupo da ração. Quando se compararam os valores de lipoperoxidação, os grupos da ração convencional e da vitamina E apresentaram índices significativamente menores que os demais. A presença de fibrose foi significativamente menor no grupo que recebeu a vitamina E. CONCLUSÕES: A dieta utilizada foi capaz de induzir esteatose e esteatohepatite não-alcoólica, sendo que a vitamina E demonstrou reduzir o estresse oxidativo hepático, bem como o desenvolvimento de fibrose

  19. Diagnóstico de ABPA em pacientes portadores de fibrose cística: utilidade clínica da pesquisa de IgE específica contra alérgenos recombinantes do Aspergillus fumigatus ABPA diagnosis in cystic fibrosis patients: the clinical utility of IgE specific to recombinant Aspergillus fumigatus allergens

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    Marina B. Almeida

    2006-06-01

    Full Text Available OBJETIVO: A aspergilose broncopulmonar alérgica (ABPA é um fator complicador da fibrose cística que pode determinar uma combinação devastadora na evolução da doença pulmonar. A sobreposição de sinais e sintomas das duas enfermidades dificulta o diagnóstico, mesmo aplicando critérios padronizados. O objetivo deste trabalho foi identificar, em grupo de portadores de fibrose cística, os casos de ABPA através da detecção de IgE específica contra os alérgenos recombinantes do Aspergillus fumigatus e confrontar esse método com os critérios preconizados pela Cystic Fibrosis Foundation. MÉTODOS: Cinqüenta e quatro pacientes de 2 a 20 anos, com características que poderiam estar isoladamente presentes na ABPA, foram avaliados sistematicamente, incluindo: dados clínicos, tomografia computadorizada de tórax, teste cutâneo de hipersensibilidade imediata para A. fumigatus; dosagem de IgE sérica total, RAST para A. fumigatus, e IgE sérica específica para alérgenos recombinantes r Asp f1, f2, f3, f4 e f6. RESULTADOS: Foram elegíveis para o estudo 39 pacientes. Destes, 32 foram investigados. Houve sensibilização ao A. fumigatus em 34%. Ambos os métodos, o critério da Cystic Fibrosis Foundation e a pesquisa de IgE específica contra antígenos recombinantes, determinaram três casos de ABPA; entretanto, o diagnóstico foi concordante em apenas dois pacientes. CONCLUSÃO: A detecção de IgE específica contra antígenos recombinantes do A. fumigatus foi ferramenta útil para detecção precoce da sensibilização e diagnóstico de ABPA. No entanto, a confirmação diagnóstica não pôde ser desvinculada da condição clínica, e sua utilização para diagnóstico, detecção de recidivas e critério de cura ainda requer estudos longitudinais, envolvendo maior número de pacientes.OBJECTIVE: Allergic bronchopulmonary aspergillosis (ABPA is a complicating factor of cystic fibrosis which can result in a devastating combination as

  20. Noninvasiv vurdering af fibrose ved kronisk viral hepatitis

    DEFF Research Database (Denmark)

    Risum, Malene; Barfod, Toke Seierøe; Lindhardt, Bjarne Orskov

    2013-01-01

    In chronic viral hepatitis the liver biopsy helps the clinician to decide when to start treatment and plan follow-up. However, the execution of a liver biopsy is associated with discomfort, and sampling error can lead to misinterpretation. Serum markers and transient elastography (TE) are being...

  1. Rekombinant humant deoxyribonuklease til andet end cystisk fibrose

    DEFF Research Database (Denmark)

    Kristensen, Kim

    2010-01-01

    be associated with increased need for supplemental oxygen. In adults with idiopathic bronchiectasis, treatment with rhDNase leads to more pulmonary exacerbations and a greater decline in pulmonary function tests. There are no controlled studies on rhDNase in primary ciliary dyskinesia or atelectasis.......Recombinant human DNase (rhDNase) reduces viscosity of sputum. Effect has been documented in cystic fibrosis and postoperatively in paediatric heart disease. Single dose treatment with rhDNase in paediatric asthma has no effect. In respiratory syncytial virus infection, treatment with rhDNase may...

  2. Rekombinant humant deoxyribonuklease til andet end cystisk fibrose

    DEFF Research Database (Denmark)

    Kristensen, Kim

    2010-01-01

    be associated with increased need for supplemental oxygen. In adults with idiopathic bronchiectasis, treatment with rhDNase leads to more pulmonary exacerbations and a greater decline in pulmonary function tests. There are no controlled studies on rhDNase in primary ciliary dyskinesia or atelectasis....

  3. Prevalência de hipertensão pulmonar avaliada por ecocardiografia Doppler em uma população de pacientes adolescentes e adultos com fibrose cística Prevalence of pulmonary hypertension evaluated by Doppler echocardiography in a population of adolescent and adult patients with cystic fibrosis

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    Paula Maria Eidt Rovedder

    2008-02-01

    Full Text Available OBJETIVO: Determinar a prevalência de hipertensão pulmonar (HP em pacientes com fibrose cística (FC, comparar características clínicas, escore radiológico, função pulmonar e parâmetros ecocardiográficos nos grupos com e sem HP e correlacionar achados ecocardiográficos com características clínicas, escore radiológico e função pulmonar. MÉTODOS: Estudo transversal prospectivo em pacientes clinicamente estáveis (idade > 16 anos atendidos por um programa de adultos para FC. Os pacientes foram submetidos a avaliação clínica, ecocardiografia Doppler, testes de função pulmonar e exame radiológico do tórax. RESULTADOS: Obteve-se a velocidade de regurgitação tricúspide (VRT em 37 dos 40 pacientes estudados. A prevalência de HP foi de 49% com um ponte de corte da VRT de 2,5 m/s (18 pacientes e de 30% com um ponte de corte da VRT de 2,8 m/s (11 pacientes. Os valores de saturação periférica de oxigênio (SpO2 em repouso, escore clínico, volume expiratório forçado no primeiro segundo (VEF1 e capacidade vital forçada (CVF foram significativamente menores no grupo com HP. A VRT correlacionou-se significativamente com SpO2 em repouso (p OBJECTIVE: To determine the prevalence of pulmonary hypertension (PH in patients with cystic fibrosis (CF, to compare clinical characteristics, radiographic scores, pulmonary function, and echocardiographic parameters in patients with and without PH, and to correlate echocardiographic findings with clinical characteristics, radiographic scores, and pulmonary function. METHODS: This was a prospective, cross-sectional study involving clinically stable patients (aged 16 or older enrolled in an adult CF program. The patients were submitted to clinical evaluation, Doppler echocardiography, pulmonary function tests, and chest X-rays. RESULTS: Tricuspid regurgitant jet velocity (TRV was obtained in 37 of the 40 patients studied. The prevalence of PH was 49% with a TRV cut-off of 2.5 m/s (18 patients

  4. Correlação dos achados tomográficos com parâmetros de função pulmonar na fibrose pulmonar idiopática em não fumantes Correlation of tomographic findings with pulmonary function parameters in nonsmoking patients with idiopathic pulmonary fibrosis

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    Agnaldo José Lopes

    2007-12-01

    Full Text Available OBJETIVO: Correlacionar os achados tomográficos com os parâmetros de função pulmonar em portadores de fibrose pulmonar idiopática (FPI. MÉTODOS: Foi realizado um estudo de corte transversal, em que foram avaliados 30 pacientes não tabagistas, portadores de FPI. Utilizando um sistema de escore semiquantitativo, os seguintes achados na tomografia computadorizada de alta resolução (TCAR foram quantificados: extensão total da doença intersticial (Tot, infiltrado reticular e faveolamento (Ret+Fav, e opacidade em vidro fosco (Vif. As variáveis funcionais foram mensuradas através de espirometria, técnica de oscilações forçadas (TOF, método da diluição com hélio e método da respiração única para medir a capacidade de difusão do monóxido de carbono (DLCO. RESULTADOS: Dos 30 pacientes estudados, 18 eram mulheres e 12 eram homens, com média de idade de 70,9 anos. Foram encontradas correlações significativas de Tot e Ret+Fav com as medidas de capacidade vital forçada (CVF, capacidade pulmonar total (CPT, DLCO e complacência dinâmica do sistema respiratório (correlações negativas, e de Vif com volume residual/CPT (correlação positiva. A relação fluxo expiratório forçado entre 25 e 75% da CVF/CVF (FEF25-75%/CVF correlacionou-se positivamente com Tot, Ret+Fav e Vif. CONCLUSÕES: Em portadores de FPI, as medidas de volume, difusão e complacência dinâmica são as variáveis fisiológicas que melhor refletem a extensão da doença intersticial na TCAR.OBJECTIVE: To correlate tomographic findings with pulmonary function parameters in patients with idiopathic pulmonary fibrosis (IPF. METHODS: A cross-sectional study was carried out, in which 30 nonsmoking patients with IPF were evaluated. Using a semiquantitative scoring system, the following high-resolution computerized tomography (HRCT findings were quantified: total interstitial disease (TID, reticular abnormality/honeycombing, and ground-glass opacity (GGO. The

  5. Capnografia volumétrica como meio de detectar obstrução pulmonar periférica precoce em pacientes com fibrose cística Volumetric capnography as a tool to detect early peripheric lung obstruction in cystic fibrosis patients

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    Maria Ângela G. O. Ribeiro

    2012-12-01

    Full Text Available OBJETIVO: Comparar a espirometria e a capnografia volumétrica (CapV para determinar se os valores amostrados pela capnografia acrescentam informações sobre doenças pulmonares precoces em pacientes com fibrose cística (FC. MÉTODOS: Este foi um estudo do tipo corte transversal envolvendo pacientes com FC: Grupo I (42 pacientes, 6-12 anos de idade e Grupo II (22 pacientes, 13-20 anos de idade. Os grupos controle correspondentes eram formados por 30 e 50 indivíduos saudáveis, respectivamente. A capacidade vital forçada (CVF, o volume expiratório forçado no primeiro segundo (VEF1 e a relação VEF1/CVF foram determinados pela espirometria. Através da CapV, medimos a saturação periférica de oxigênio (SpO2, a frequência respiratória (FR, o tempo inspiratório (TI, o tempo expiratório (TE e o slope da fase III normalizado pelo volume corrente (slope da fase III/Vc. RESULTADOS: Em comparação com os grupos controle, todos os pacientes com FC apresentaram valores de slope da fase III/Vc (p OBJECTIVE: To compare spirometry and volumetric capnography (VCap to determine if the capnographic values add more information about early lung disease in cystic fibrosis (CF patients. METHODS: This was a cross-sectional study involving CF patients: Group I (42 patients, 6-12 years of age; and Group II (22 patients, 13-20 years of age. The corresponding control groups were comprised of 30 and 50 healthy subjects, respectively. Forced vital capacity (FVC, forced expiratory volume in one second (FEV1, and the FEV1/FVC ratio was determined by spirometry. Using VCap, we measured peripheral oxygen saturation (SpO2, respiratory rate (RR, inspiratory time (IT, expiratory time (ET, and the phase III slope normalized by expiratory volume (phase III slope/Ve. RESULTS: In comparison with control groups, all CF patients presented higher phase III slope/Ve values (p < 0.001 independent of the pulmonary disease stage. The phase III slope/Ve was significantly

  6. Deve-se extrapolar o tratamento de bronquiectasias em pacientes com fibrose cística para aqueles com bronquiectasias de outras etiologias? Should the bronchiectasis treatment given to cystic fibrosis patients be extrapolated to those with bronchiectasis from other causes?

    Directory of Open Access Journals (Sweden)

    Rodrigo Abensur Athanazio

    2010-08-01

    Full Text Available OBJETIVO: Conhecer o perfil de pacientes adultos com bronquiectasias, comparando portadores de fibrose cística (FC com aqueles com bronquiectasias de outra etiologia, a fim de determinar se é racional extrapolar terapêuticas instituídas em fibrocísticos para aqueles com bronquiectasias de outras etiologias. MÉTODOS: Análise retrospectiva dos prontuários de 87 pacientes adultos com diagnóstico de bronquiectasia em acompanhamento em nosso serviço. Pacientes com doença secundária a infecção por tuberculose corrente ou no passado foram excluídos. Foram avaliados dados clínicos, funcionais e terapêuticos dos pacientes. RESULTADOS: Dos 87 pacientes com bronquiectasias, 38 (43,7% tinham diagnóstico confirmado de FC através de dosagem de sódio e cloro no suor ou análise genética, enquanto 49 (56,3% apresentavam a doença por outra etiologia, 34 (39,0% desses com bronquiectasia idiopática. Os pacientes com FC apresentavam média de idade ao diagnóstico mais baixa (14,2 vs. 24,2 anos; p OBJECTIVE: To profile the characteristics of adult patients with bronchiectasis, drawing comparisons between cystic fibrosis (CF patients and those with bronchiectasis from other causes in order to determine whether it is rational to extrapolate the bronchiectasis treatment given to CF patients to those with bronchiectasis from other causes. METHODS: A retrospective analysis of the medical charts of 87 patients diagnosed with bronchiectasis and under follow-up treatment at our outpatient clinic. Patients who had tuberculosis (current or previous were excluded. We evaluated the clinical, functional, and treatment data of the patients. RESULTS: Of the 87 patients with bronchiectasis, 38 (43.7% had been diagnosed with CF, through determination of sweat sodium and chloride concentrations or through genetic analysis, whereas the disease was due to another etiology in 49 (56.3%, of whom 34 (39.0% had been diagnosed with idiopathic bronchiectasis. The mean

  7. Fibrose pulmonar idiopática: características clínicas e sobrevida em 132 pacientes com comprovação histológica Pulmonary idiopathic fibrosis: clinical findings and survival in 132 histologically-proven patients

    Directory of Open Access Journals (Sweden)

    ADALBERTO SPERB RUBIN

    2000-04-01

    Full Text Available Com o objetivo de avaliar as características clínicas e sobrevida de pacientes portadores de fibrose pulmonar idiopática, foram analisados 132 casos com confirmação histológica, internados no Pavilhão Pereira Filho entre 1970 e 1996. O diagnóstico foi realizado em 120 casos por biópsia a céu aberto e em 12 casos por biópsia transbrônquica. A idade média do grupo estudado foi de 56 anos; 78 eram do sexo masculino; 126 eram brancos e 6, negros. O tabagismo estava presente em 61 casos. A duração média dos sintomas antes do diagnóstico foi de 22,7 meses. O hipocratismo digital esteve presente em 75 pacientes e estertores teleinspiratórios foram verificados em 100 casos. Dispnéia só não foi constatada em dois pacientes e tosse esteve presente em 89 casos. As provas de função pulmonar apresentaram os seguintes valores médios: CVF, 62%; VEF1, 70%; DCO, 43,4%; CPT, 76,7%; PaO2, 67,3mmHg; PaCO2, 39,1mmHg e SaO2, 92,3%. O lavado broncoalveolar apresentou os seguintes valores médios: macrófagos, 83,8%; neutrófilos, 9,1%; linfócitos; 6,1% e eosinófilos, 0,6%. Na radiologia convencional de tórax, foi observado faveolamento em 79 casos, redução da capacidade pulmonar total em 107 e alargamento da traquéia intratorácica em 50. Na TC de tórax, o grau médio de profusão do padrão reticular foi de 42,3% e do padrão de granularidade, de 43,6%. O padrão histológico usual esteve presente em 128 casos, sendo apenas quatro pacientes portadores de padrão descamativo. Em 121 casos foram obtidas informações quanto à sobrevida em dezembro de 1997. A sobrevida média total desta série foi de 28 meses, sendo de 24 meses para os pacientes que foram a óbito. Os pacientes desta série apresentaram características associadas a um estágio avançado da doença. Este fato, mais a presença maciça de pacientes com padrão usual e a rígida seleção de casos muito provavelmente contribuíram para os resultados encontrados quanto

  8. Quadro clínico e nutricional de pacientes com fibrose cística: 20 anos de seguimento no HC-UFMG Clinical and nutritional aspects of a Center of Cystic Fibrosis-HC-UFMG: 20 years of follow-up

    Directory of Open Access Journals (Sweden)

    F. J. C. Reis

    2000-10-01

    Full Text Available OBJETIVOS: A fibrose cística (FC é a doença genética letal, de herança autossômica recessiva, mais comum entre pacientes de cor branca. O presente estudo foi realizado com o objetivo de identificar o quadro clínico e nutricional à admissão dos pacientes no Centro de Tratamento de FC do HC-UFMG e avaliar a sobrevida a longo prazo. PACIENTES E MÉTODOS: Em um período de 20 anos, 127 pacientes portadores de FC foram acompanhados longitudinalmente e submetidos a protocolo previamente estabelecido, após confirmação do diagnóstico pelo teste do suor. Foram obtidos na admissão dados demográficos, da apresentação clínica, nutricionais e laboratoriais. O genótipo foi obtido de 106 pacientes pela técnica do PCR. Os pacientes foram seguidos por mediana de 44 meses. A análise de sobrevida foi realizada utilizando-se o método de Kaplan-Meier. RESULTADOS: A mediana da idade do diagnóstico da FC foi de 33 meses. A manifestação clínica predominante na época do diagnóstico foi a associação de sintomas respiratórios e gastrointestinais crônicos, presentes em 61% das crianças. A mutação mais freqüente encontrada foi a deltaF508: 17 pacientes (16% eram homozigotos para essa mutação e 30 (28% eram heterozigotos. Houve uma prevalência de desnutrição à admissão de 63% tendo sido reduzida para 45% ao final do seguimento. Um total 20 pacientes (15,7% evoluiu para o óbito. A probabilidade estimada de sobrevida nos primeiros 12 meses após o diagnóstico foi de 96% e após 5 anos de seguimento de 80%. CONCLUSÕES: O diagnóstico da FC é ainda tardio em nosso meio e a sobrevida é menor quando comparada a dados internacionais. O seguimento desses pacientes em centro especializado permitiu uma melhora no estado nutricional apesar da inerente evolução da doença.BACKGROUND: Cystic fibrosis (CF is the most common severe autosomal recessive disease in caucasian population. The life expectancy of patients with CF has improved

  9. Densidade mineral óssea, função pulmonar, idade cronológica e idade de diagnóstico em crianças e adolescentes com fibrose cística Bone mineral density, pulmonary function, chronological age, and age at diagnosis in children and adolescents with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Márcio V.F. Donadio

    2013-04-01

    Full Text Available OBJETIVO: Avaliar a densidade mineral óssea de pacientes com fibrose cística (FC e correlacioná-la com possíveis variáveis intervenientes. MÉTODOS: Foram incluídos crianças e adolescentes com diagnóstico clínico de FC, idade entre seis e dezoito anos, e em acompanhamento ambulatorial. Primeiramente, foram coletados os dados demográficos, para posterior realização do teste espirométrico. Todos os pacientes responderam ao questionário de qualidade de vida em FC (QFC e realizaram o teste de caminhada dos seis minutos (TC6 e o exame de densitometria óssea (DXA. RESULTADOS: Foram incluídos 25 pacientes fibrocísticos, sendo 56% do sexo masculino. A média de idade foi de 12,3 ± 3,4 anos, altura de 149,2 ± 14,4 cm e peso de 44,4 ± 13,9 kg. A maioria dos dados de função pulmonar e de densidade mineral óssea (DMO encontrou-se dentro dos limites de normalidade. A média do volume expiratório forçado no primeiro segundo (VEF1 foi de 92,5 ± 23,6 (% do previsto, capacidade vital forçada (CVF de 104,4 ± 21,3 (% do previsto e o escore z da DMO de 0,1 ± 1,0. A DMO correlacionou-se de forma moderada com o VEF1 (r = 0,43; p = 0,03 e com a CVF (r = 0,57; p = 0,003. Em relação à idade cronológica e à idade de diagnóstico, também foi encontrada uma correlação moderada e inversa (r = -0,55; p = 0,004 /r = -0,57; p = 0,003, respectivamente. Entretanto, não foram encontradas correlações significativas com os dados do QFC, TC6 e índice de massa corporal. CONCLUSÃO: A maioria dos pacientes avaliados apresenta DMO dentro dos limites de normalidade e possui correlação positiva com a função pulmonar e negativa com a idade cronológica e a idade de diagnóstico.OBJECTIVE: To assess bone mineral density in patients with cystic fibrosis (CF, and to correlate it with possible intervening variables. METHODS: Children and adolescents diagnosed with CF, aged 6 to 18 years, followed at the outpatient clinic were included in the study

  10. TRPV4 is associated with central rather than nephrogenic osmoregulation.

    NARCIS (Netherlands)

    Janas, S.; Seghers, F.; Schakman, O.; Alsady, M.; Deen, P.M.; Vriens, J.; Tissir, F.; Nilius, B.; Loffing, J.; Gailly, P.; Devuyst, O.

    2016-01-01

    TRPV4 is a polymodal cation channel expressed in osmosensitive neurons of the hypothalamus and in the mammalian nephron. The segmental distribution and role(s) of TRPV4 in osmoregulation remain debated. We investigated the renal distribution pattern of TRPV4 and the functional consequences of its

  11. Clinical manifestations of gadodiamide-related nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Marckmann, P.; Skov, L.; Rossen, K.

    2008-01-01

    and other neuropathic symptoms localized to the lower legs. First sign appeared in a median of 14 days (range 0 - 53 days) after gadodiamide exposure. Associated early symptoms included sleeplessness and transient, diffuse hair loss. The predominant late symptom was symmetrical skin stiffness of extremities...

  12. Deposição pulmonar de tobramicina inalatória antes e após fisioterapia respiratória e uso de salbutamol inalatório em pacientes com fibrose cística colonizados por Pseudomonas aeruginosa Pulmonary deposition of inhaled tobramycin prior to and after respiratory therapy and use of inhaled albuterol in cystic fibrosis patients colonized with Pseudomonas aeruginosa

    Directory of Open Access Journals (Sweden)

    Milena Baptistella Grotta

    2009-01-01

    Full Text Available OBJETIVO: Avaliar se a fisioterapia respiratória seguida do uso de salbutamol inalatório modifica a deposição pulmonar de tobramicina inalatória em pacientes com fibrose cística (FC e se a deposição pulmonar apresenta correlação com a gravidade da doença ou com o genótipo. MÉTODOS: Um estudo prospectivo foi realizado com pacientes com FC maiores de 6 anos e colonizados por Pseudomonas aeruginosa. Os critérios de exclusão foram exacerbação pulmonar, mudança terapêutica entre as fases do estudo e FEV1 OBJECTIVE: To evaluate whether respiratory therapy followed by the use of inhaled albuterol modifies the pulmonary deposition of inhaled tobramycin in patients with cystic fibrosis (CF and whether pulmonary deposition correlates with disease severity or genotype. METHODS: A prospective study was carried out including patients with CF older than 6 years of age and colonized with Pseudomonas aeruginosa. Exclusion criteria were pulmonary exacerbation, changes in therapy between the study phases and FEV1 < 25%. All patients were submitted to pulmonary scintigraphy by means of a scintillation camera equipped with a low energy all purpose collimator in order to evaluate drug penetration following the administration of inhaled 99mTc-tobramycin, as well as to pulmonary perfusion with 99mTc-macroaggregated albumin (phase 1. One month later, the same procedure was performed following respiratory therapy and administration of inhaled albuterol (phase 2. RESULTS: We included 24 patients (12 males aged 5-27 years (mean ± SD: 12.85 ± 6.64 years. The Shwachman score (SS was excellent/good in 8 patients, moderate/fair in 16 and poor in 0. Genotyping revealed that 7 patients were ΔF508 homozygotes, 13 were ΔF508 heterozygotes; and 4 presented other mutations. In all patients, lung deposition of tobramycin decreased in phase 2, especially in those with moderate/fair SS (p = 0.017 and in heterozygotes (p = 0.043. CONCLUSIONS: The use of a

  13. Influência da infecção pregressa pelo vírus da hepatite B na fibrose hepática em portadores de hepatite C crônica: avaliação retrospectiva de uma série de casos Influence of previous hepatitis B virus infection on liver fibrosis in patients with chronic hepatitis C: a retrospective case series evaluation

    Directory of Open Access Journals (Sweden)

    Gaspar Lisboa Neto

    2010-08-01

    Full Text Available INTRODUCÃO: A hepatite C é uma das principais causas de doença hepática em todo mundo. Apresenta um curso evolutivo dinâmico e influenciável por diversos co-fatores. Dentre eles, a infecção pregressa pelo vírus B (anti-HBcAg [+] e HBsAg [-] tem se associado a pior prognóstico histológico e terapêutico. Este trabalho teve como objetivo analisar a associação entre a infecção pregressa pelo vírus B e fibrose hepática em portadores de hepatite C crônica, de maneira independente. MÉTODOS: Foram revistos retrospectivamente prontuários médicos de pacientes infectados cronicamente pelo vírus C, atendidos consecutivamente durante um ano no ambulatório de Doenças Infecciosas e Parasitárias - HC FMUSP, quanto aos dados epidemiológicos, clínicos, laboratoriais e histológicos. A análise de independência do impacto da infecção pregressa pelo vírus B foi realizada através de modelo estatístico de regressão logística multivariado, considerando a detecção do anti-HBcAg como variável de exposição, sendo o desfecho a alteração estrutural histopatológica graus 3 e 4 (septos com formação de nódulos e cirrose.0 RESULTADOS: 145 indivíduos foram avaliados pelo estudo, 47.2% com anti-HBcAg (+. O fator de risco mais comumente relatado foi transfusão de sangue e hemoderivados (35,9%. Embora necrose em saca-bocado tenha sido encontrada com maior frequência no grupo de infecção pregressa, a sorologia anti-HBcAg (+ não se associou à fibrose hepática avançada. CONCLUSÕES: A infecção pregressa pelo vírus B não parece acentuar a lesão estrutural desencadeada pela hepatite C crônica, após controle estatístico para outros co-fatores sabidamente capazes de influenciar a história natural desta infecção.INTRODUCTION: Hepatitis C is a major cause of liver disease worldwide. Its evolutionary course is dynamics and may be influenced by several cofactors. Among them, previous hepatitis B virus infection (anti

  14. O cotidiano da família com filhos portadores de fibrose cística: subsídios para a enfermagem pediátrica El cotidiano de la familia con hijos portadores de fibrosis quística: aportes para la enfermería pediátrica The routine of families with children bearing cystic fibrosis: subsidies for pediatric nursing

    Directory of Open Access Journals (Sweden)

    Maria Cândida de Carvalho Furtado

    2003-02-01

    Full Text Available A fibrose cística é uma doença genética caracterizada pelo aumento na produção de muco que, depositado em alguns órgãos, causa: doença pulmonar obstrutiva crônica, insuficiência pancreática e nível elevado de eletrólitos no suor. Pretende-se, neste estudo, descrever o cotidiano de famílias com filhos portadores de fibrose cística nos aspectos relacionados à repercussão da doença crônica na dinâmica familiar. Para tanto, realizou-se um estudo qualitativo, com coleta de dados empíricos a partir de entrevistas com 14 famílias de pacientes menores de 18 anos em tratamento no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, da Universidade de São Paulo. Dos dados emergiram os seguintes temas: envolvimento da família, aceitação/entendimento da doença e enfrentando desafios. Identificamos uma vida de dependência relacionada à doença, com desgaste físico e emocional, tanto da criança quanto da família. Implicações para a enfermagem: constituição de modelos assistenciais que tenham a família como foco de atenção, considerando meio ambiente, estilo de vida e promoção à saúde como seus fundamentos básicos.La fibrosis quística es una enfermedad genética caracterizada por el aumento en la producción de moco que es depositado en algunos órganos causando: enfermedad pulmonar obstructiva crónica, insuficiencia pancreática y nivel elevado de electrolitos en el sudor. El objetivo de este estudio es describir el cotidiano de las familias con hijos portadores de fibrosis quística en los aspectos relacionados a la repercusión de la enfermedad crónica en la dinámica familiar. Por lo tanto, se realizó un estudio cualitativo, a través de la recolección de datos empíricos a partir de entrevistas con 14 familias de pacientes menores de 18 años en tratamiento en el Hospital Clínicas de la Facultad de Medicina de Ribeirão Preto de la Universidad de São Paulo. De los datos emergieron los

  15. USING OF MSC WITH DIFFERENT ONTOGENETIC MATURITY FOR CORRECTION OF CHRONIC FIBROSING LIVER DAMAGE

    Directory of Open Access Journals (Sweden)

    M. Y. Shagidulin

    2013-01-01

    Full Text Available Aim. To compare the effectiveness of MSC with different degree of ontogenetic maturity (MSC bone marrow – MSC BM and MSC umbilical cord – MSC UC on regenerative processes in injured liver. Methods. In 4 groups of experiments on Wistar rats (n = 80 with a model of fibrotic toxic liver damage (FLD it was studied the effect of MSCs with different degree of ontogenetic maturity on recovery processes at the regeneration of damaged liver: 1 gr. – Control, 2 gr. and 3 gr. introduction of MSC BM, included in Sphero®GEL-long in doses of 2.5 ×106 and 5.0 x 106 cells, respectively, and 4 gr. – introduction of MSC UC in the form of cell-spheroids (8–10 × 105 cells. The cells were injected into the damaged liver in 7 days after the end of FDL-modeling. The effect of cell therapy was studied during 180 days. The effectiveness of corrective therapy was evaluated by the results of functional and morphological investigations of livers (histological control of parenchymal and nonparenchy- mal liver tissue. Results. MSC BM in both doses and MSC UC contributed to a more rapid normalization of liver enzyme indices compared with the control (1 gr., but the differences in the rate of recovery of disturbed enzymatic liver functions between groups 2, 3 and 4 – were absent. In 90 days after the cell application it was determined a more pronounced recovery activity of cells in groups 3 and 4; in 180 days the more pronounced activation of recovery processes was observed in group 3; but in group 4 the sclerotic processes were more pro- nounced in this period. Conclusion. For the induction of recovery processes in damage liver it is advisable not to use the MSC UC, but to use MSC BM in the Sphero®GEL, because MSC BM exert not only local but also systemic immune-regulatory effect, increasing the pool of T-reg. cells, which are additional carriers of regenera- tion information in organism. 

  16. Catheter-based intervention for pulmonary vein stenosis due to fibrosing mediastinitis: The Mayo Clinic experience

    Directory of Open Access Journals (Sweden)

    Shiva P. Ponamgi

    2015-09-01

    Conclusions: We describe the largest reported case series of catheter-based intervention for PV stenosis in FM. Although catheter-based therapy improved hemodynamics, short-term vascular patency, and patient symptoms, the rate of life-threatening complications, restenosis, and mortality associated with these interventions was found to be high. Despite these associated risks, catheter-based intervention is the only palliative option available to improve quality of life in severely symptomatic patients with PV stenosis and FM. Patients with PV stenosis and FM (especially those with bilateral disease have an overall poor prognosis in spite of undergoing these interventions due to the progressive and recalcitrant nature of the disease. This underscores the need for further innovative approaches to manage this disease.

  17. Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

    NARCIS (Netherlands)

    Hengst, M. (Meike); Naehrlich, L. (Lutz); P. Mahavadi (Poornima); Grosse-Onnebrink, J. (Joerg); Terheggen-Lagro, S. (Suzanne); Skanke, L.Hø. (Lars Høsøien); Schuch, L.A. (Luise A.); Brasch, F. (Frank); A. Guenther (Andreas); S. Reu (Simone); Ley-Zaporozhan, J. (Julia); Griese, M. (Matthias)

    2018-01-01

    textabstractBackground: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in

  18. Prova do Suor no Diagnóstico Laboratorial da Fibrose Quistica

    OpenAIRE

    Costa, Alcina; Batalha, Lídia; Almeida, Suza; Vilares, Arminda; Pacheco, Paula; Silva, Conceição; Miranda, Armandina

    2014-01-01

    Objectivo: Apresentar a casuística da Prova do Suor, no período de 2009 a 2013 da UDR do DPS do INSA, I.P. Lisboa , e o estudo do gene CFTR, efetuado na Unidade de Genética Molecular, Departamento de Genética Humana, INSA, I.P. Lisboa.

  19. IMPACT OF ANTIVIRAL THERAPY FOR CHRONIC HEPATITIS C ON CYTOKINE SYNTHESIS AND HEPATIC FIBROSING PROCESSES

    Directory of Open Access Journals (Sweden)

    V. V. Shchekotov

    2015-01-01

    Full Text Available Objective: to estimate the time course of changes in the levels of tumor necrosis factor-α (TNF-α, interleukin-4 (IL-4, IL-6, and the hepatic fibrosis indicators hyaluronic acid (HA and liver elasticity index during combined antiviral therapy (AVT with interferon alpha-2b and ribavirin in patients with chronic hepatitis C (CHC. Subjects and methods. Fifty patients with CHC were examined. Serum TNF-α, IL-6, IL-4, and HA were estimated using an enzyme immunoassay. The stage of hepatic fibrosis was determined by fibroelastography with the liver elastic index being measured; the time course of changes in the indicators was assessed in 20 patients at the end of AVT. A virological response was monitored at therapy completion and 6 months later. Results. The patients with CHC in the reactivation phase were found to have enhanced TNF-α, IL-6, and IL-4 activities in 84, 60, and 100 % of the cases, respectively (р < 0.001, р = 0.01, р < 0.001, respectively. The median serum concentration of HA in CHC was 1.8-fold higher than that in the control group (p = 0.03; the liver elastic index averaged 6.5 kPa. TNF-α and IL-6 levels correlated with viremia, transaminases, and hepatic fibrosis indicators. At combined AVT completion, the virological response rate was as high as 85 %, which was attended by a considerable reduction in cytolysis, HA concentrations, and liver density index to 5.4 kPa (3.6–6.8 kPa (p < 0.04, and in the activity of the examined cytokines. The sustained virological response rate was 80 %. Only IL-4 levels decreased and TNF-α and IL-6 concentration remained at the baseline level in patients unresponsive to AVT. Conclusion. It is expedient to monitor TNF-α, IL-4, IL-6, and HA to evaluate the severity of liver involvement in CHC and to predict the efficiency of AVT.

  20. How to avoid nephrogenic systemic fibrosis: current guidelines in Europe and the United States

    DEFF Research Database (Denmark)

    Thomsen, Henrik S

    2009-01-01

    in patients who have a GFR between 30 and 60 mL/min. Similar restrictions have not been introduced for the other six gadolinium-based contrast agents available in the European market. In the United States, the US Food and Drug Administration introduced a class ban and warned about the use of gadolinium...

  1. Role of adenylyl cyclase 6 in the development of lithium-induced nephrogenic diabetes insipidus

    DEFF Research Database (Denmark)

    Poulsen, Søren Brandt; Kristensen, Tina Bøgelund; Brooks, Heddwen L

    2017-01-01

    knockout (AC6(loxloxCre)) mice had approximately 50% lower urine osmolality and doubled water intake under baseline conditions compared with controls. Dietary Li(+) administration increased water intake and reduced urine osmolality in control, AC6(-/-), and AC6(loxloxCre) mice. Consistent with AC6......(-/-) mice, medullary AQP2 and pS256-AQP2 abundances were lower in AC6(loxloxCre) mice compared with controls under standard conditions, and levels were further reduced after Li(+) administration. AC6(loxloxCre) and control mice had a similar increase in the numbers of proliferating cell nuclear antigen......-positive cells in response to Li(+). However, AC6(loxloxCre) mice had a higher number of H(+)-ATPase B1 subunit-positive cells under standard conditions and after Li(+) administration. Collectively, AC6 has a minor role in Li-NDI development but may be important for determining the intercalated cell...

  2. [Nursing care of a patient with bipolar disorder and lithium-induced nephrogenic diabetes insipidus].

    Science.gov (United States)

    García de la Orden, Lucía; García Carretero, Rafael

    2015-01-01

    Bipolar disorder is one of the most common, severe and persistent mental disorders. The evaluation of all data and variables related to bipolar disorder is a difficult task, because there is no clear agreement on what should be included in this category. One of the traditional treatments for this disease is the lithium metal that is administered in the form of lithium salt. Lithium has a narrow therapeutic window and there is a significant risk of complications arising from its use, mainly neurological and renal. In the case presented, the preparation of a care plan is described for a patient diagnosed with bipolar disorder who suffered a complication with lithium treatment. To do this, it was decided to use a standardized care plan and later completed it with diagnostic, objectives and interventions to the specific needs of the patient, aimed at achieving optimal levels of independence. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  3. The value of HASTE MR urography in the diagnosis of the chronic nephrogenic flank pain

    International Nuclear Information System (INIS)

    Werel, D.; Tarasow, E.; Dzienis, W.; Ustymowicz, A.; Orzechowska-Bobkiewicz, A.; Walecki, J.; Darewicz, B.

    2004-01-01

    To asses the usefulness of the projectional HASTE sequence in the diagnosis of chronic flank pain caused by obstructive uropathy in comparison with conventional urography. 28 patients with chronic flank pain and hydronephrosis on ultrasound underwent conventional urography and HASTE sequence of static MR urography. The methods were evaluated for image quality, presence, agree, level and cause of urinary tract dilatation. The image quality of the urinary tract on HASTE was good in 57.1% and satisfactory in 42.9%; in conventional urography - good in 28.6%, satisfactory in 42.8% and poor in 28.6%. HASTE demonstrated hydronephrosis and degree of hydronephrosis in all the cases and conventional urography in 25 (83.3%). HASTE identified correctly the site of obstruction in 29 cases (96.7%), and conventional urography in 21 cases (70%). The sensitivity of HASTE in diagnosis of the intrinsic and extrinsic causes of obstruction was 73.7% and 80%, accuracy 73.3% and that of conventional urography 68.4%, 40% and 56.7%, respectively. HASTE is a valuable method in the diagnostics of chronic obstructive uropathy. It allows to evaluate the degree of hydronephrosis, the level and in many cases the cause of obstruction. When the urinary tract is not visualized in conventional urography, static MR urography is especially useful. (author)

  4. Tamoxifen attenuates development of lithium-induced nephrogenic diabetes insipidus in rats

    DEFF Research Database (Denmark)

    Tingskov, Stine Julie; Hu, Shan; Frøkiær, Jorgen

    2018-01-01

    of aquaporin-2 (AQP2), which are essential for water reabsorption of tubular fluid in the collecting duct. Sex hormones have previously been shown to affect the regulation of AQP2, so we tested whether tamoxifen (TAM), a selective estrogen receptor modulator, would attenuate lithium-induced alterations...... on renal water homeostasis. Rats were treated for 14 days with lithium and TAM treatment was initiated one week after onset of lithium administration. Lithium treatment resulted in severe polyuria and reduced AQP2 expression, which was ameliorated by TAM. Consistent with this, TAM attenuated downregulation...... of AQP2 and increased phosphorylation of the cAMP responsive element binding protein (CREB), which induced AQP2 expression, in freshly isolated inner medullary collecting duct suspension prepared from lithium-treated rats. In conclusion, TAM attenuated dose-dependently polyuria, impaired urine...

  5. Nephrogenic factors of resistance to antihypertensive treatment in patients with essential hypertension

    Directory of Open Access Journals (Sweden)

    N. V. Teplova

    2015-01-01

    Full Text Available Aim. To study the prevalence of renal and renovascular disorders in the development and progression of primary arterial hypertension (HT resistant to combination antihypertensive therapy (AHT in cardiac and therapeutic patients of general hospital.Material and methods. 286 patients with essential HT stages 1-3, including 105 patients with stages 2-3 with the signs of treatment resistance were included into the study. All patients were treated with personalized AHT in accordance with current guidelines for the management of HT. Laboratory and instrumental assessment of a functional status of kidneys was performed.Results. A group of patients with resistant HT made 36.7% of the total number of examined patients. The most significant distinction in patients with resistant HT was a high incidence of changes in renal vessels and infrarenal aorta. Deformation of the abdominal aorta (9.7%, renal arteries tortuosity (7.3%, vasourethral conflict (4.8% were detected in this group significantly more often.Conclusion. Congenital and acquired lesions of renal arteries are detected several times more often in patients with resistant essential HT.

  6. Nephrogenic factors of resistance to antihypertensive treatment in patients with essential hypertension

    Directory of Open Access Journals (Sweden)

    N. V. Teplova

    2015-12-01

    Full Text Available Aim. To study the prevalence of renal and renovascular disorders in the development and progression of primary arterial hypertension (HT resistant to combination antihypertensive therapy (AHT in cardiac and therapeutic patients of general hospital.Material and methods. 286 patients with essential HT stages 1-3, including 105 patients with stages 2-3 with the signs of treatment resistance were included into the study. All patients were treated with personalized AHT in accordance with current guidelines for the management of HT. Laboratory and instrumental assessment of a functional status of kidneys was performed.Results. A group of patients with resistant HT made 36.7% of the total number of examined patients. The most significant distinction in patients with resistant HT was a high incidence of changes in renal vessels and infrarenal aorta. Deformation of the abdominal aorta (9.7%, renal arteries tortuosity (7.3%, vasourethral conflict (4.8% were detected in this group significantly more often.Conclusion. Congenital and acquired lesions of renal arteries are detected several times more often in patients with resistant essential HT.

  7. Fibrosing gastrointestinal leiomyositis as a cause of chronic intestinal pseudo-obstruction in an 8-month-old dog.

    Science.gov (United States)

    Johnson, C S; Fales-Williams, A J; Reimer, S B; Lotsikas, P J; Haynes, J S

    2007-01-01

    An 8-month-old, female, mixed-breed dog presented to the Iowa State University Veterinary Teaching Hospital with a 1-month history of vomiting and diarrhea. An exploratory laparotomy was performed revealing markedly distended and fluid-filled small and large intestines that were not obstructed. The clinical condition of the dog did not improve subsequent to exploratory surgery, and it was euthanized. At necropsy, both the small and large intestines were distended (approximately 4 cm in diameter) and fluid-filled, and the wall was thin. The abdominal cavity contained approximately 500 ml of a brownish clear fluid. Microscopic lesions of the intestines were confined to the intestinal tunica muscularis and muscularis mucosae and consisted of locally extensive-to-diffuse replacement of the smooth muscle by fibrous tissue and multifocal infiltration by a moderately dense mononuclear inflammatory infiltrate. A unique finding was the presence of similar microscopic lesions in the tunica muscularis of the urinary bladder and stomach.

  8. Oxidative Stress Markers in Exhaled Breath Condensate in Lung Fibroses Are Not Significantly Affected by Systemic Diseases

    Czech Academy of Sciences Publication Activity Database

    Pelclová, D.; Fenclová, Z.; Syslová, K.; Vlčková, Š.; Lebedová, J.; Pecha, O.; Běláček, J.; Navrátil, Tomáš; Kuzma, Marek; Kačer, P.

    2011-01-01

    Roč. 49, č. 6 (2011), s. 746-754 ISSN 0019-8366 Institutional research plan: CEZ:AV0Z40400503; CEZ:AV0Z50200510 Keywords : 8-iso-prostaglandin F-2 alpha * 4-hydroxy-trans-2-nonenale * Malondialdehyde Subject RIV: CF - Physical ; Theoretical Chemistry Impact factor: 0.940, year: 2011

  9. Fibrose hépatique : lien force mécanique et génotoxicité

    OpenAIRE

    Langouët , Sophie

    2014-01-01

    En 2012, en France, il y a eu 6.867 nouveaux cas de cancer du foie chez l’homme et 1.586 chez la femme. On soupçonne que les maladies du foie sont associées à un dysfonctionnement sévère des fonctions hépatiques et susceptibles d’entraîner une sensibilité accrue des patients vis-à-vis des contaminants environnementaux. Comment évaluer cette susceptibilité individuelle au cours de maladies chroniques, qui se prolongent dans le temps ? L’objectif du projet Mécagénotox est de caractériser et mod...

  10. Malignant transformation of a rat fibroma by the treatment with an anti-fibrosing drug: CY-168F (Plastenan

    Directory of Open Access Journals (Sweden)

    Sonia G. Andrade

    1981-09-01

    Full Text Available Fifteen albino (Sprague Dawley rats with subcutaneous transplanted fibromas was used in the present study. The tumour was formed by typical fibroblasts in a dense collagen matrix and was provenient from a fibroma that appeared spontaneously in an albino rat of the same strain. Ultrastructurally collagen disclosed normal periodicity and the fibroblasts showed irregular notched nuclei with irregular distribution of chromatin, that suggests transitional aspects to fibrosarcoma. The 15 animals, from different passage groups, were divided into: 8 animals submitted to treatment with the drug acexamic acid (CY-168F - N acetyl-amino-6-hexanoic acid (plastenan and 7 untreated control animals. Three of the treated animals showed a malignant transformation to fibrosarcoma. transitional histological features from typical fibroma to highly indifferentiated fibrosarcoma could be detected in come animal subjected to repeated biopsies. Ultrastructural study disclosed nuclear alterations and hyperactive ergastoplasm and collagen containing inclusions into the cytoplasm of fibroblasts. In the group of 7 untreated naimals, no malignant transformation could be detected histologically. Two aspects deserve attention: the malignant potential of a typical fibroma and the apparent effect of an antifibrosing drug in inducing malignization of this tumour.Foram utilizados no presente estudo, quinze ratos albinos (Sprague Dawley portadores de fibronas transplantados no tecido subcutâneo da parede abdominal. O tumor era constituído por fibroblastos típicos, em uma densa matriz colagênica e eram provenientes de um fibroma que apareceu espontaneamente em um rato albino da mesma linhagem. Ultraestruturalmente o colágeno mostrava periodicidade normal e os fibroblastos mostravam núcleo irregularmente denteado, com cromatina irregularmente distribuída, sugerindo aspectos transicionais para um fibrossarcoma. Os quinze animais, de diferentes grupos de passagem do tumor, foram divididos em: oito animais submetidos a tratamento com a droga CY-168F (Plastenan e sete animais controles não tratados. Três dos animais tratados mostraram uma transformação malígna para um fibrossarcoma. Em um dos animais emque foram feitas biópsias sucessivas, foram observados aspectos histológicos transicionais de um fibroma típico até um fibrossarcoma altamente indiferenciado. O estudo ultraestrutural demonstrou alterações nucleares, ergastoplasma hiperativo e inclusções contendo colágeno, no citoplasma dos fibroblastos. No grupo dos sete animais não tratados, não foi verificada transformação malígna do tumor. Dois aspectos merecem atenção neste estudo; o potencial malígno de um fibroma típico e o aparente efeito de um antifibrosante na indução da malignização deste tumor.

  11. Dermal inorganic gadolinium concentrations: evidence for in vivo transmetallation and long-term persistence in nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Abraham, J.L.; Thakral, C.; Skov, L.

    2008-01-01

    patients with NSF and to determine their relative concentrations over time from administration of GBMCA. Methods An investigator-blinded retrospective study, analysing 43 skin biopsies from 20 patients with gadodiamide-related NSF and one NSF-negative gadodiamide-exposed dialysis patient, ranging from 16...... days to 1991 days after Gd contrast dose. Utilizing automated quantitative scanning electron microscopy/energy-dispersive X-ray spectroscopy we determined the concentration of Gd and associated elements present as insoluble deposits in situ in the tissues. Results We detected Gd in skin lesions of all...... contained phosphorus, calcium and sodium. The ratio of Gd to calcium in tissue deposits correlated positively with the gadodiamide dose and with serum ionized calcium at the time of Gd exposure. Conclusions These findings demonstrate the in vivo release (through transmetallation) of the toxic free Gd3+ from...

  12. Effect of the cGMP pathway on AQP2 expression and translocation: potential implications for nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Boone, M.; Kortenoeven, M.L.A.; Robben, J.H.; Deen, P.M.T.

    2010-01-01

    BACKGROUND: Arginine vasopressin (AVP) binding to the V2 receptor (V2R) in renal collecting duct principal cells induces a cAMP signalling cascade resulting in the activation of protein kinase A (PKA), translocation of aquaporin-2 (AQP2) to the apical membrane and an increase in AQP2 expression.

  13. Multiorgan gadolinium (Gd) deposition and fibrosis in a patient with nephrogenic systemic fibrosis--an autopsy-based review

    DEFF Research Database (Denmark)

    Sanyal, Soma; Marckmann, Peter; Scherer, Susanne

    2011-01-01

    tissues of NSF patients, predominantly at the bulk chemical level. The distribution of Gd at the histologic level of organs other than skin has not been reported previously. METHODS: We analysed tissues from an autopsy case with verified advanced NSF by light microscopy and scanning electron microscopy......), kidney, lymph node, skeletal muscle, dura mater and cerebellum of the NSF autopsy case, primarily in vascular walls. Some, but not all, Gd deposits were seen in fibrotic areas. Literature review highlighted that non-specific tissue fibrosis and calcification are frequent findings in tissues of patients...

  14. Disease: H00252 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00252 Congenital nephrogenic diabetes insipidus (NDI) Nephrogenic diabetes insipi...HORS ... Linshaw MA ... TITLE ... Back to basics: congenital nephrogenic diabetes insipidus. ... JOURNAL ... Pediatr...lecular and cellular defects in nephrogenic diabetes insipidus. ... JOURNAL ... Pediatr Nephrol 16:1146-52 (2001) DOI:10.1007/s004670100051

  15. Automated scanning electron microscopy and x-ray microanalysis for in situ quantification of gadolinium deposits in skin

    International Nuclear Information System (INIS)

    Thakral, Charu; Abraham, Jerrold L.

    2007-01-01

    Gadolinium (Gd) has been identified as a possible causative agent of an emerging cutaneous and systemic fibrosing disorder, nephrogenic systemic fibrosis (NSF), which can cause serious disability and even death. To date, there are only two known associations with this disorder - renal insufficiency and Gd enhanced magnetic resonance imaging (MRI). We developed an automated quantitative scanning electron microscopy (SEM) and Energy dispersive x-ray spectroscopy (EDS) method for Gd in tissue of NSF patients. Freshly cut paraffin block surfaces examined using the variable pressure mode under standardized conditions and random search of the tissue area allow in situ detection and semiquantitative morphometric (volumetric) analysis of insoluble higher atomic number features using backscattered electron imaging. We detected Gd ranging from 1 to 2270 cps/mm 2 in 57 cutaneous biopsies of NSF. Gd was associated with P, Ca, and usually Na in tissue deposits. Our method reproducibly determines the elemental composition, relative concentration, and spatial distribution of detected features within the tissue. However, we cannot detect features below our spatial resolution, nor concentrations below the detection limit of our SEM/EDS system. The findings confirm transmetallation and release of toxic Gd ions in NSF and allow dose-response analysis at the histologic level. (author)

  16. Aberrant immune response with consequent vascular and connective tissue remodeling - causal to scleroderma and associated syndromes such as Raynaud phenomenon and other fibrosing syndromes?

    Science.gov (United States)

    Durmus, Nedim; Park, Sung-Hyun; Reibman, Joan; Grunig, Gabriele

    2016-11-01

    Scleroderma and other autoimmune-induced connective tissue diseases are characterized by dysfunctions in the immune system, connective tissue and the vasculature. We are focusing on systemic sclerosis (SSc)-associated pulmonary hypertension, which remains a leading cause of death with only a 50-60% of 2-year survival rate. Much research and translational efforts have been directed at understanding the immune response that causes SSc and the networked interactions with the connective tissue and the vasculature. One of the unexpected findings was that in some cases the pathogenic immune response in SSc resembles the immune response to helminth parasites. During coevolution, means of communication were developed which protect the host from over-colonization with parasites and which protect the parasite from excessive host responses. One explanation for the geographically clustered occurrence of SSc is that environmental exposures combined with genetic predisposition turn on triggers of molecular and cellular modules that were once initiated by parasites. Future research is needed to further understand the parasite-derived signals that dampen the host response. Therapeutic helminth infection or treatment with parasite-derived response modifiers could be promising new management tools for autoimmune connective tissue diseases.

  17. Comparative study of Candida in oral submucous fibrosis and healthy individuals = Estudo comparativo de Candida em fibrose submucosa oral e indivíduos saudáveis

    Directory of Open Access Journals (Sweden)

    Anila, K.

    2011-01-01

    Conclusão: A incidência e intensidade de Candida (primariamente C. albicans foi maior nos pacientes com FSO que nos sujeitos controle, mas estes achados estavam dentro dos limites normais (3-47%. Portanto, Candida pode não ser um fator etiológico na transformação maligna. Entretanto, ainda há controvérsias se o hábito de mascar ‘betel’ em casos de FSO teria um efeito inibidor ou promoveria a aderência e invasão de Candida

  18. Comparative study of Candida in oral submucous fibrosis and healthy individuals = Estudo comparativo de Candida em fibrose submucosa oral e indivíduos saudáveis

    Directory of Open Access Journals (Sweden)

    Anila, K.

    2011-01-01

    Conclusão: A incidência e intensidade de Candida (primariamente C. albicans foi maior nos pacientes com FSO que nos sujeitos controle, mas estes achados estavam dentro dos limites normais (3-47%. Portanto, Candida pode não ser um fator etiológico na transformação maligna. Entretanto, ainda há controvérsias se o hábito de mascar ‘betel’ em casos de FSO teria um efeito inibidor ou promoveria a aderência e invasão de Candida.

  19. Photobiomodulation therapy alleviates tissue fibroses associated with chronic Graft-Versus-Host Disease : Two case reports and putative anti-fibrotic roles of TGF-β

    NARCIS (Netherlands)

    Epstein, J.B.; Raber-Durlacher, J.E.; Huysmans, M.C.; Schoordijk, M.C.E.; Cheng, J.E.; Bensadoun, R.J.; Arany, P.R.

    2018-01-01

    Objective: Patients who receive allogeneic hematopoietic stem cell transplantation may experience oral complications due to chronic graft-versus-host disease (cGVHD). The manifestations may include progressive sclerosis-like changes that may involve various body sites, including the oropharynx.

  20. Photobiomodulation Therapy Alleviates Tissue Fibroses Associated with Chronic Graft-Versus-Host Disease: Two Case Reports and Putative Anti-Fibrotic Roles of TGF-

    NARCIS (Netherlands)

    Epstein, Joel B.; Raber-Durlacher, Judith E.; Huysmans, Marie-Charlotte; Schoordijk, Maria C. E.; Cheng, Jerry E.; Bensadoun, Rene-Jean; Arany, Praveen R.

    2018-01-01

    Objective: Patients who receive allogeneic hematopoietic stem cell transplantation may experience oral complications due to chronic graft-versus-host disease (cGVHD). The manifestations may include progressive sclerosis-like changes that may involve various body sites, including the oropharynx.

  1. Application of new therapies in Graves' disease and thyroid-associated ophthalmopathy: animal models and translation to human clinical trials

    DEFF Research Database (Denmark)

    Banga, J Paul; Nielsen, Claus H; Gilbert, Jacqueline A

    2008-01-01

    Most current approaches for treating Graves' disease are based essentially upon regimes developed nearly 50 years ago. Moreover, therapeutic approaches for complications such as thyroid-associated ophthalmopathy (TAO) and dermopathy are singularly dependent on conventional approaches of nonspecif...

  2. Application of new therapies in Graves' disease and thyroid-associated ophthalmopathy: animal models and translation to human clinical trialsTumor necrosis factor-alpha binding capacity and anti-infliximab antibodies measured by fluid-phase radioimmunoassays as predictors of clinical efficacy

    DEFF Research Database (Denmark)

    Banga, J.P.; Gilbert, J.A.; El, Fassi D.

    2008-01-01

    Most current approaches for treating Graves' disease are based essentially upon regimes developed nearly 50 years ago. Moreover, therapeutic approaches for complications such as thyroid-associated ophthalmopathy (TAO) and dermopathy are singularly dependent on conventional approaches of nonspecif...

  3. Morgellons disease: a filamentous borrelial dermatitis

    OpenAIRE

    Middelveen, Marianne J; Stricker, Raphael B

    2016-01-01

    Marianne J Middelveen, Raphael B Stricker International Lyme and Associated Diseases Society, Bethesda, MD, USA Abstract: Morgellons disease (MD) is a dermopathy characterized by multicolored filaments that lie under, are embedded in, or project from skin. Although MD was initially considered to be a delusional disorder, recent studies have demonstrated that the dermopathy is associated with tickborne infection, that the filaments are composed of keratin and collagen, and that they resu...

  4. A Cutaneous Lupus Erythematosus-Like Eruption Induced by Hydroxyurea.

    Science.gov (United States)

    Yanes, Daniel A; Mosser-Goldfarb, Joy L

    2017-01-01

    Hydroxyurea is a medication with many well-described cutaneous side effects, notably the dermatomyositis-like eruption known as hydroxyurea dermopathy. Although systemic lupus erythematosus has been reported with hydroxyurea use, cutaneous lupus has not. We report a novel case of chronic cutaneous lupus induced by hydroxyurea and propose that this is a side effect that is distinct from hydroxyurea dermopathy. © 2016 Wiley Periodicals, Inc.

  5. Clinical, biological, and skin histopathologic effects of ionic macrocyclic and nonionic linear gadolinium chelates in a rat model of nephrogenic systemic fibrosis.

    Science.gov (United States)

    Fretellier, Nathalie; Idée, Jean-Marc; Guerret, Sylviane; Hollenbeck, Claire; Hartmann, Daniel; González, Walter; Robic, Caroline; Port, Marc; Corot, Claire

    2011-02-01

    the purpose of this study was to compare the clinical, pathologic, and biochemical effects of repeated administrations of ionic macrocyclic or nonionic linear gadolinium chelates (GC) in rats with impaired renal function. rats submitted to subtotal nephrectomy were allocated to single injections of 2.5 mmol/kg of gadodiamide (nonionic linear chelate), nonformulated gadodiamide (ie, without the free ligand caldiamide), gadoterate (ionic macrocyclic chelate), or saline for 5 consecutive days. Blinded semi-quantitative histopathologic and immunohistochemical examinations of the skin were performed, as well as clinical, hematological, and biochemical follow-up. Rats were killed at day 11. Long-term (up to day 32) follow-up of rats was also performed in an auxiliary study. epidermal lesions (ulcerations and scabs) were found in 4 of the 10 rats treated with nonformulated gadodiamide. Two rats survived the study period. Inflammatory signs were observed in this group. No clinical, hematological, or biochemical signs were observed in the saline and gadoterate- or gadodiamide-treated groups. Plasma fibroblast growth factor-23 levels were significantly higher in the gadodiamide group than in the gadoterate group (day 11). Decreased plasma transferrin-bound iron levels were measured in the nonformulated gadodiamide group. Histologic lesions were in the range: nonformulated gadodiamide (superficial epidermal lesions, inflammation, necrosis, and increased cellularity in papillary dermis) > gadodiamide (small superficial epidermal lesions and signs of degradation of collagen fibers in the dermis) > gadoterate (very few pathologic lesions, similar to control rats). repeated administration of the nonionic linear GC gadodiamide to renally impaired rats is associated with more severe histologic lesions and higher FGF-23 plasma levels than the macrocyclic GC gadoterate.

  6. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.

    NARCIS (Netherlands)

    Mattia, F.P. de; Savelkoul, P.J.M.; Kamsteeg, E.J.; Konings, I.B.M.; Sluijs, P. van der; Mallmann, R.; Oksche, A.; Deen, P.M.T.

    2005-01-01

    Water homeostasis in humans is regulated by vasopressin, which induces the translocation of homotetrameric aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical membrane of renal principal cells. For this process, phosphorylation of AQP2 at S256 by cAMP-dependent protein kinase

  7. Nephrogenic diabetes insipidus in a patient with L1 syndrome : A new report of a contiguous gene deletion syndrome including L1CAM and AVPR2

    NARCIS (Netherlands)

    Knops, Noel B. B.; Bos, Krista K.; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J.

    2008-01-01

    We report on.in infant boy \\vitli congenital hydrocephatLis CILle to 1.1 syndrorne and p0lyUria dne to diabetes itisipidtis. We initially believed Ins excessive Lirine loss was froin central diabetes insipidLIS and diat the cerebral inalforniation caused a secondary insufficient pitnitary

  8. Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.

    Science.gov (United States)

    Ferreli, Caterina; Gasparini, Giulia; Parodi, Aurora; Cozzani, Emanuele; Rongioletti, Franco; Atzori, Laura

    2017-12-01

    Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct

  9. Connective tissue growth factor in renal development and injury

    NARCIS (Netherlands)

    Ito, Y.

    2011-01-01

    Langdurige weefselbeschadiging leidt vaak tot functieverlies van het betreffende orgaan door het ontstaan van veel littekens (fibrose). Yasuhiko Ito ontdekte dat genexpressie van de factor CTGF sterk is verhoogd bij veelvoorkomende nierziekten waarbij fibrose optreedt. De hoeveelheid CTGF in de

  10. Attenuating fibrosis : Modulation of myofibroblast formation and extracellular matrix synthesis

    NARCIS (Netherlands)

    Mia, Md Masum

    2016-01-01

    Fibrose behelst het verlittekenen van weefsels en organen. Daardoor kunnen vitale functies uitvallen, met de dood tot gevolg. Fibrose is in veel gevallen dan ook een zeer ernstige aandoening. Toch bestaat er geen enkel effectief medicijn tegen. Hét kenmerk van fibrose is de excessieve productie van

  11. Identificação de bactérias não fermentadoras isoladas de pacientes com fibrose cística e em hemoculturas de pacientes internados no HC da Unicamp

    OpenAIRE

    Élio Barreto de Carvalho Filho

    2015-01-01

    Resumo: Introdução: Bacilos gram-negativos não fermentadores (BGN-NFs) são microrganismos que se caracterizam pela incapacidade de utilizar a glicose como fonte de energia pela fermentação, degradando-a pela via oxidativa. A identificação dos BGN-NFs continua sendo um desafio para os laboratórios de rotina em microbiologia pela dificuldade de identificação, em virtude, da baixa ocorrência em amostras ambulatoriais, assim como, pela falta de recursos rápidos, eficientes e pela complexidade e ...

  12. Fibrose congênita de reto inferior atípica com hipotonia muscular generalizada: relato de um caso Atipical inferior rectus congenital fibrosis with generalizated muscular hypotonia: case report

    Directory of Open Access Journals (Sweden)

    Ezon Vinicius Alves Pinto Ferraz

    1999-10-01

    Full Text Available O caso descrito apresentava uma hipotropia pouco severa com acuidade visual normal e binocularidade em infra-versão; além de uma hipotonia muscular generalizada, ao contrário da severa hipotropia e ambliopia encontrada nessa afecção. O procedimento cirúrgico levou estes fatos em consideração, tendo-se optado por um retrocesso pequeno do reto inferior para que se corrigisse o torcicolo sem interferir na posição de leitura. Os resultados pós-operatórios foram satisfatórios.A case report of an atipical inferior rectus congenital fibrosis associated with a generalized muscular hypotonia is presented. It shows mild hipotropia with a normal visual acuity and binocularity in infraversion position contrasting with the severe hipotropia and ambliopy found. The surgical procedure took these facts into consideration, so we performed a small retrocess of the muscle with the objective to correct the head position without changes in the reading position. The postoperative results were satisfactory.

  13. Diagnóstico ecodopplercardiográfico da fibrose crônica da válvula mitral em cão Echodopplercardiographic diagnostic of mitral chronic valvular fibrosis in dog

    Directory of Open Access Journals (Sweden)

    R.A.L. Muzzi

    1999-12-01

    Full Text Available A ten year-old male Poodle dog, weighing 3kg, was referred to the Veterinary Hospital of UFMG due to nocturnal coughing, exercise intolerance, weakness and weight loss. Physical examination revealed pale mucous membranes, prolonged capillary refill time, holosystolic regurgitant murmur at left apex and signs of congestive heart failure. M-mode, two-dimensional, and Doppler echocardiography revealed mitral chronic valvular disease

  14. MRI-based flow measurements in the main pulmonary artery to detect pulmonary arterial hypertension in patients with cystic fibrosis; MRT-basierte Flussmessungen im Truncus pulmonalis zur Detektion einer pulmonal-arteriellen Hypertonie in Patienten mit zystischer Fibrose

    Energy Technology Data Exchange (ETDEWEB)

    Wolf, T.; Anjorin, A.; Abolmaali, N. [TU Dresden (Germany). OncoRay, Biologisches und Molekulares Imaging; Posselt, H. [Frankfurt Univ. (Germany). Klinik fuer Paediatrie I, Muskoviszidoseambulanz; Smaczny, C. [Frankfurt Univ. (Germany). Medizinische Klinik I, Pneumologie und Allergologie; Vogl, T.J. [Frankfurt Univ. (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie

    2009-02-15

    Development of pulmonary arterial hypertension (PH) is a common problem in the course of patients suffering from cystic fibrosis (CF). This study was performed to evaluate MRI based flow measurements (MR{sub venc}; Velocity ENCoding) to detect signs of an evolving PH in patients suffering from CF. 48 patients (median age: 16 years, range: 10 - 40 years, 25 female) suffering from CF of different severity (mean FEV1: 74 % {+-} 23, mean Shwachman-score: 63 {+-} 10) were examined using MRI based flow measurements of the main pulmonary artery (MPA). Phase-contrast flash sequences (TR: 9.6 ms, TE: 2.5 ms, bandwidth: 1395 Hertz/Pixel) were utilized. Results were compared to an age- and sex-matched group of 48 healthy subjects. Analyzed flow data where: heart frequency (HF), cardiac output (HZV), acceleration time (AT), proportional acceleration time related to heart rate (ATr), mean systolic blood velocity (MFG), peak velocity (Peak), maximum flow (Fluss{sub max}), mean flow (Fluss{sub mitt}) and distensibility (Dist). The comparison of means revealed significant differences only for MFG, Fluss{sub max} and Dist, but overlap was marked. However, using a scatter-plot of AT versus MFG, it was possible to identify five CF-patients demonstrating definite signs of PH: AT = 81 ms {+-} 14, MFG = 46 {+-} 11 cm/s, Dist = 41 % {+-} 7. These CF-patients where the most severely affected in the investigated group, two of them were listed for complete heart and lung transplantation. The comparison of this subgroup and the remaining CF-patients revealed a highly significant difference for the AT (p = 0.000001) without overlap. Screening of CF-patients for the development of PH using MR{sub venc} of the MPA is not possible. In later stages of disease, the quantification of AT, MFG and Dist in the MPA may be useful for the detection, follow-up and control of therapy of PH. MR{sub venc} of the MPA completes the MRI-based follow-up of lung parenchyma damage in patients suffering from CF. (orig.)

  15. {sup 18}F-F.D.G. PET imaging of infection and inflammation: intestinal, prosthesis replacements, fibrosis, sarcoidosis, tuberculosis..; La TEP au {sup 18}F-FDG dans la pathologie inflammatoire et infectieuse: intestinale, prothetique, fibrose, sarcoidose, tuberculose..

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez, A.; Cortes, M.; Caresia, A.P.; Juan, R. de; Vidaller, A.; Mana, J.; Martinez-Yelamos, S.; Gamez, C. [Hospital Universitari de Bellvitge, Service TEP-Centre IDI, Services de Medecine Interne, Barcelone (Spain)

    2008-10-15

    Nuclear medicine plays an important role in the evaluation of infection and inflammation. A variety of diagnostic methods are available for imaging this inflammation and infection, most notably computed tomography, {sup 68}Ga scintigraphy or radionuclide labeled leucocytes. Fluorine 18 fluorodeoxyglucose ({sup 18}F-F.D.G.) is a readily available radiotracer that offers rapid, exquisitely sensitive high-resolution images by positron emission tomography (PET). Inflammation can be acute or chronic, the former showing predominantly neutrophilic granulocyte infiltrates, whereas in the latter, macrophages predominate. F.D.G. uptake in infection is based on the fact that mononuclear cells and granulocytes use large quantities of glucose by way of the hexose monophosphate shunts. {sup 18}F-F.D.G. PET accurately helps diagnose spinal osteomyelitis, diabetic foot and in inflammatory conditions such as sarcoidosis and tuberculosis.(it appears to be useful for defining the extent of disease and monitoring response to treatment). {sup 18}F-F.D.G. PET can also help localize the source of fever of undetermined origin, thereby guiding additional testing. {sup 18}F-F.D.G. PET may be of limited usefulness in postoperative patients and in patients with a failed joint prosthesis or bowel inflammatory disease. In this review, we will focus on the role of {sup 18}F-F.D.G. PET in the management of patients with inflammation or suspected or confirmed infection.

  16. Diagnosis of chronic rhino sinusitis in patients with cystic fibrosis: correlation between anamnesis, nasal endoscopy and computed tomography; Diagnostico de rinossinusite cronica em pacientes com fibrose cistica: correlacao entre anamnese, nasofibroscopia e tomografia computadorizada

    Energy Technology Data Exchange (ETDEWEB)

    Boari, Leticia; Castro Junior, Ney Penteado de [Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, SP (Brazil)]. E-mail: curyboari@uol.com.br

    2005-11-15

    The sinonasal involvement is one of the most common manifestations in cystic fibrosis. Data show a high incidence of chronic rhino sinusitis in these patients. Although it has been found radiographic opacification of the sinus in more than 90% of cases, few are symptomatic. So that, it is difficult to recognize nasossinusal disease in patients with cystic fibrosis. Questionnaire, nasal endoscopy and CT-scan are very important methods in this approach. Aim: to evaluate the diagnosis of chronic rhino sinusitis in patients with cystic fibrosis by anamnesis, nasal endoscopy and CT-scan and compare those results.Study Design: Clinical prospective. Material and method: evaluation of 34 patients - older than 6 years and with a confirmed diagnoses of cystic fibrosis - by anamnesis (questionnaire), nasal endoscopy (score Lund-Kennedy) and CT-scan (score Lund-Mackay). Results: chronic rhino sinusitis was confirmed in: 20,58% of cases by the questionnaire, 73,52% of the cases by the nasal endoscopy and in 93,54% of the cases by the CT-scan. The results showed significant differences. The correlation between nasal endoscopy score (Lund-Kennedy score) and CT-scan score (Lund-Mackay score) was statistically significant. Conclusion: the diagnosis of chronic rhino sinusitis was statistically different between the three methods. It was higher in imaging analysis and lower in questionnaire. The nasal endoscopy is an excellent method to evaluate nasossinusal disease in cystic fibrosis. (author)

  17. Clinical study of diabetic dermoangiopathy

    Directory of Open Access Journals (Sweden)

    MPS Sawhney

    1990-01-01

    Full Text Available One hundred and twenty three diabetic patients and 100 non- diabetic controls were examined for lesions of diabetic dermoangiopathy. Twenty two (17.9% lesions, while simildr lesions were found in only 2 (2% controls. Age of the patients with opathy was sipifirandy higher than those derm without dermopathy, and it was more common in the fifth to the seventh decade. No statistically siicant relationship could be established with the sex, type, serverity control or duration of diabetes, diatetic neuropathy, larize vessel disease like CAD, PVD or CVA or with metabolic complications of diabetes. However, a higher percentage (59.1% of patients with dermopathy were found to have a poor control of their diabetes as compared to those without microangiopathy (50.7%. Dermopathy was also more common (23% 9 the duration of diabetes was more than 5 years, than if it was less than 5 years (14.1%. The percentage (33.3% of patients with retinopathy having dermopathy. Rubeosis was seen in 4 (3.2% patients.

  18. Intracranial calcification in central diabetes insipidus

    International Nuclear Information System (INIS)

    Al-Kandari, Salwa R.; Pandey, Tarun; Badawi, Mona H.

    2008-01-01

    Intracranial calcification is a known but extremely rare complication of diabetes insipidus. To date, only 16 patients have been reported and all had the peripheral (nephrogenic) type of diabetes insipidus. We report a child with intracranial calcification complicating central diabetes insipidus. We also report a child with nephrogenic diabetes insipidus, and compare the patterns of intracranial calcification. (orig.)

  19. Intracranial calcification in central diabetes insipidus

    Energy Technology Data Exchange (ETDEWEB)

    Al-Kandari, Salwa R. [Al Razi Hospital, Department of Clinical Radiology, Kuwait (Kuwait); Pandey, Tarun [Al Razi Hospital, Department of Clinical Radiology, Kuwait (Kuwait); University of Arkansas for Medical Sciences, Radiology Department, Little Rock, AR (United States); Badawi, Mona H. [Al-Adan Hospital, Department of Paediatrics, Kuwait (Kuwait)

    2008-01-15

    Intracranial calcification is a known but extremely rare complication of diabetes insipidus. To date, only 16 patients have been reported and all had the peripheral (nephrogenic) type of diabetes insipidus. We report a child with intracranial calcification complicating central diabetes insipidus. We also report a child with nephrogenic diabetes insipidus, and compare the patterns of intracranial calcification. (orig.)

  20. Disease: H01906 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01906 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and... pulmonary fibrosis Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fi...ies especially on the face and sun-exposed areas. Scalp hair, eyelashes, and eyebrows are typically sparse. Tendon contract

  1. Morgellons disease: a filamentous borrelial dermatitis.

    Science.gov (United States)

    Middelveen, Marianne J; Stricker, Raphael B

    2016-01-01

    Morgellons disease (MD) is a dermopathy characterized by multicolored filaments that lie under, are embedded in, or project from skin. Although MD was initially considered to be a delusional disorder, recent studies have demonstrated that the dermopathy is associated with tickborne infection, that the filaments are composed of keratin and collagen, and that they result from proliferation of keratinocytes and fibroblasts in epithelial tissue. Culture, histopathological and molecular evidence of spirochetal infection associated with MD has been presented in several published studies using a variety of techniques. Spirochetes genetically identified as Borrelia burgdorferi sensu stricto predominate as the infective agent in most of the Morgellons skin specimens studied so far. Other species of Borrelia including Borrelia garinii , Borrelia miyamotoi , and Borrelia hermsii have also been detected in skin specimens taken from MD patients. The optimal treatment for MD remains to be determined.

  2. Magnetic resonance imaging of head and neck vascular anomalies ...

    African Journals Online (AJOL)

    can provide a useful tool for assessing the response to therapy in the follow-up of ..... outweigh the possible risk for nephrogenic systemic fibrosis. In addition, performing MRI .... malformations and vascularized tumors. Pediatr Radiol 2012 ...

  3. Characterization of V71M mutation in the aquaporin-2 gene causing ...

    Indian Academy of Sciences (India)

    Introduction. The aquaporin-2 (AQP2) water channel plays an important ... X-ray structure of lens aquaporin-0 open form (Lens Mip) as template (pdb. Keywords. AQP2 gene; nephrogenic diabetes insipidus; mutation; structural modelling.

  4. Persistent severe polyuria after renal transplant

    OpenAIRE

    Wong, Timothy; Laing, Chris; Ekong, Rosemary; Povey, Sue; Unwin, Robert J.

    2015-01-01

    Polydipsia and polyuria are common symptoms in patients with diabetes insipidus (DI), which can be due to inadequate vasopressin production (cranial DI) or vasopressin insensitivity (nephrogenic DI). Clinical diagnosis of the subtypes of DI can be tricky. We present a 44-year-old man with a strong family history of DI who had been diagnosed with autosomal dominant nephrogenic DI from infancy. At the age of 40, he had progressed to end-stage renal failure. When he experienced unresolving sever...

  5. Radioinduced intestinal fibrosis: from molecular mechanisms to therapy applications. Contribution of the TGF--{beta}1, of the CTGF and of the transduction pathway of the Rho/ROCK signal; La fibrose intestinale radio-induite: des mecanismes moleculaires aux applications therapeutiques. Roles du TGF-{beta}1, du CTGF et de la voie de transduction du signal Rho/ROCK

    Energy Technology Data Exchange (ETDEWEB)

    Haydont, V

    2006-12-15

    Delayed radiation enteritis is an intestinal fibrosis induced by accidental or therapeutic radiation for pelvic and abdominal cancer treatments. Studies of molecular mechanisms involved in the development and maintenance of fibrosis have showed the respective contribution of CTGF, low TGF-{beta}1 concentrations and Rho/ROCK pathway. Thus, based on the relationship between CTGF, TGF-{beta}1 and Rho pathway, 2 therapeutics strategies have been develop. First, a pravastatin curative gift leads to a fibro-lysis involving an inhibition of Rho and in cascade a reduction of CTGF expression and extracellular matrix deposition. The data suggest that reversal of established radiation fibrosis in the gut is possible. Second, a pravastatin prophylactic gift prevents the installation of a chronic fibrosis but does not protect the tumor. On the base of these results, the radiation therapy department of the Institut Gustave Roussy will soon initiate 2 clinical trials. (author)

  6. Sarcoidosis and Histoplasmosis: Is One a Consequence of the Other? A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Anupam Bansal

    2015-01-01

    Full Text Available Sarcoidosis involves abnormal collections of inflammatory cells (granulomas which may form as nodules in multiple organs. 90% of affected patients have respiratory tract abnormalities. We present a 61-year-old male with sarcoidosis who was admitted for respiratory distress. Fibrosing mediastinitis was seen in the chest computograph. Management was conservative and included steroids, antibiotics, and oxygen therapy. Sarcoidosis and fibrosing mediastinitis are rare. Fibrosing mediastinitis is more commonly seen with histoplasmosis. We explore the clinical similarities between histoplasmosis and sarcoidosis. We also explore the potential cause and effect relationship and workup for each disease entity.

  7. The Emerging Role of Soluble Adenylyl Cyclase in Primary Biliary Cholangitis

    NARCIS (Netherlands)

    Chang, Jung-Chin; Beuers, Ulrich; Oude Elferink, Ronald P. J.

    2017-01-01

    Primary biliary cholangitis (PBC; previously referred to as primary biliary cirrhosis) is a chronic fibrosing cholangiopathy with the signature of an autoimmune disease and features of intrahepatic cholestasis. Immunosuppressing treatments are largely unsuccessful. Responsiveness to ursodeoxycholic

  8. Loss of heterozygosity at 11p13 and 11p15 in Wilms tumor: a study of 22 cases from India.

    Science.gov (United States)

    Sigamani, Elanthenral; Wari, Mohammad Nahidul; Iyer, Venkateswaran K; Agarwala, Sandeep; Sharma, Arundhati; Bakhshi, Sameer; Dinda, Amit

    2013-03-01

    11p13 and 11p15 loss of heterozygosity (LOH) in Wilms tumor (WT), the commonest molecular pathogenetic event in WT, shows variation in different parts of the world. The present study looked for the presence of 11p13 and 11p15 LOH as well as nephrogenic rests in WT occurring in India. Twenty-two cases of WT were subjected to thorough pathological examination for presence of nephrogenic rests. Fresh frozen tissue was evaluated for LOH at 11p13 and 11p15, using PCR for microsatellite markers. Among twenty-two consecutive cases of WT, 20 were unilateral and 2 were bilateral. 6/22 showed LOH at 11p13 (27.7 %) and 1/22 showed LOH at 11p15 (4.54 %). 2/22 cases showed presence of nephrogenic rests. One of the cases with LOH at 11p13 had intralobar nephrogenic rest in the adjacent kidney. One specimen had perilobar nephrogenic rest in the adjacent kidney but did not show LOH for either 11p13 or 11p15 in the tumor. LOH at 11p13 is seen in 27.27 % of WT in India, which is similar to reports in the English language literature. LOH at 11p15 was seen in 4.54 % of WT, which is lower than that reported from Western subjects.

  9. [Growth in children with diabetes insipidus].

    Science.gov (United States)

    Morla Báez, E; Dorantes Alvarez, L M; Chavarría Bonequi, C

    1980-01-01

    Commercial preparations of vasopressin for the treatment of diabetes insipidus are not available in Mexico. Besides, the hormone is useless in the nephrogenic variety. In the department of Endocrinology at the Hospital Infantil de Mexico, a preparation containing hydrochlorothiazide, aminopyrine and potassium chloride, which reduces urinary volumes in about two thirds, is employed in all varieties of the disease. Growth in stature was investigated in 44 patients under treatment, attending the Endocrine Outpatient Clinic since 1967 for a period of 2 to 12 years. Clinical material included 29 males and 15 females. There were 23 idiopathic, 7 histiocytosis, 5 nephrogenic, 4 craniopharyngiomas, 2 psychogenic polydipsia, 2 traumatic and 1, as a sequel of tuberculous meningoencephalitis. Six idiopathic, 2 nephrogenic, 2 traumatic, 1 histiocytosis, and 1 psychogenic proceeded between percentiles 3 and 97, parallel to the nearest line of reference along the whole period of study. Two nephrogenic, 2 histiocytosis, 1 psychogenic, 1 post-meningoencephalitis and 14 idiopathic, grew below the third percentile, but parallel to it. One nephrogenic, 4 histiocytosis, 4 craniopharyngioma and 3 idiopathic progressively departed from the initial centile. Two of the latter had growth hormone deficiency, and 1 had been very irregularly treated. It is concluded that the therapy employed limits stature impairment but does not produce catch-up growth. Accordingly, it is proposed that the treatment of diabetes insipidus should be started as early as possible, and that if progress in stature is appreciably deteriorated, the presence of additional pathology should be suspected.

  10. Application of new therapies in Graves' disease and thyroid-associated ophthalmopathy: animal models and translation to human clinical trials

    DEFF Research Database (Denmark)

    Banga, J Paul; Nielsen, Claus H; Gilbert, Jacqueline A

    2008-01-01

    Most current approaches for treating Graves' disease are based essentially upon regimes developed nearly 50 years ago. Moreover, therapeutic approaches for complications such as thyroid-associated ophthalmopathy (TAO) and dermopathy are singularly dependent on conventional approaches of nonspecific...... immunosuppression. The recent development of an induced model of experimental Graves' disease, although incomplete as it lacks the extrathyroidal manifestations, provided opportunities to investigate immune intervention strategies, including influence upon the autoreactive B and T cell players in the autoimmune...... process. These major advances are generating new possibilities for therapeutic interventions for patients with Graves' disease and TAO....

  11. Canine cutaneous leishmaniasis by Leishmania (Viannia braziliensis in an agricultural settlement, endemic area for leishmaniasis

    Directory of Open Access Journals (Sweden)

    A.F. Brilhante

    2016-08-01

    Full Text Available ABSTRACT Cutaneous leishmaniasis has several species of Leishmania as agents, and a wide variety of wild and domestic animals as hosts and different species of phlebotomines as vectors. A case of cutaneous leishmaniasis in a dog coming from an agricultural settlement is described. This is the first report of parasitism in a dog by Le. (Viannia braziliensis in Mato Grosso do Sul State. Attention is called to the importance of including this protozoonosis in the differential diagnosis of dermopathies in dogs as also the need to assess the importance of the domestic dog as a possible reservoir of Le. braziliensis.

  12. The invisible patients: posttraumatic stress disorder in parents of individuals with cystic fibrosis

    OpenAIRE

    Cabizuca, Mariana; Mendlowicz, Mauro; Marques-Portella, Carla; Ragoni, Celina; Coutinho, Evandro Silva Freire; Souza, Wanderson de; Mari, Jair de Jesus [UNIFESP; Figueira, Ivan

    2010-01-01

    CONTEXTO: Apesar do crescente reconhecimento da relevância do transtorno de estresse pós-traumático (TEPT) secundário a doenças médicas, ainda não existem estudos em fibrose cística. OBJETIVO: Verificar a prevalência de TEPT e dos três grupos de sintomas de estresse pós-traumático em pais de pacientes com fibrose cística. MÉTODOS: Pais de pacientes com fibrose cística (idade média: 2 a 33 anos) foram recrutados da Associação Carioca de Mucoviscidose. Neste estudo transversal, os pais preenche...

  13. Morgellons disease: a filamentous borrelial dermatitis

    Directory of Open Access Journals (Sweden)

    Middelveen MJ

    2016-10-01

    Full Text Available Marianne J Middelveen, Raphael B Stricker International Lyme and Associated Diseases Society, Bethesda, MD, USA Abstract: Morgellons disease (MD is a dermopathy characterized by multicolored filaments that lie under, are embedded in, or project from skin. Although MD was initially considered to be a delusional disorder, recent studies have demonstrated that the dermopathy is associated with tickborne infection, that the filaments are composed of keratin and collagen, and that they result from proliferation of keratinocytes and fibroblasts in epithelial tissue. Culture, histopathological and molecular evidence of spirochetal infection associated with MD has been presented in several published studies using a variety of techniques. Spirochetes genetically identified as Borrelia burgdorferi sensu stricto predominate as the infective agent in most of the Morgellons skin specimens studied so far. Other species of Borrelia including Borrelia garinii, Borrelia miyamotoi, and Borrelia hermsii have also been detected in skin specimens taken from MD patients. The optimal treatment for MD remains to be determined. Keywords: Morgellons disease, dermatitis, Lyme disease, Borrelia burgdorferi, spirochetes

  14. Hypothyroid Graves' disease complicated with elephantiasis nostras verrucosa (ENV): a case report and review of the literature.

    Science.gov (United States)

    Ukinç, Kubilay; Bayraktar, Miyase; Gedik, Arzu

    2009-08-01

    Thyroid dermopathy is not a frequent feature of hyperthyroid Graves' disease, being present in less than 5% of the patients. Graves' disease has been shown to exist in euthyroid or hypothyroid forms in untreated patients. Here, we describe a case of hypothyroid Graves' disease with elephantiasis nostras verrucosa (ENV), which is an extreme form of thyroid dermopathy (TD). A 58-year-old female patient was admitted to the emergency department with somnolence, hypothermia, and bradycardia. Her mental status gradually worsened, resulting in a deep coma. She was intubated and followed in the intensive care unit, as she needed mechanical ventilatory assistance due to respiratory failure. She also had bilateral non-pitting edema, a cobblestone-like appearance, and hyperkeratotic greenish-brown-colored lesions in the pretibial and dorsal regions of the feet that were compatible with ENV. Hypothyroid Graves' disease is a very rare condition among autoimmune thyroid disorders, and ENV is an extremely rare form of TD. Here, we present a patient with hypothyroid Graves' disease and ENV.

  15. Children's (Pediatric) Magnetic Resonance Imaging

    Medline Plus

    Full Text Available ... material may be performed. The intravenous needle may cause your child some discomfort when it is inserted and your ... sedation. However, the technologist or nurse monitors your child’s vital signs ... cause problems during an MRI exam. Nephrogenic systemic fibrosis ...

  16. The water deprivation test and a potential role for the arginine vasopressin precursor copeptin to differentiate diabetes insipidus from primary polydipsia

    NARCIS (Netherlands)

    de Fost, M.; Oussaada, S. M.; Endert, E.; Linthorst, G. E.; Serlie, M. J.; Soeters, M. R.; DeVries, J. H.; Bisschop, P. H.; Fliers, E.

    2015-01-01

    The water deprivation test is the gold standard test to differentiate central or nephrogenic diabetes insipidus (DI) from primary polydipsia (PP) in patients with polyuria and polydipsia. Few studies have addressed the diagnostic performance of this test. The aim of this retrospective cohort study

  17. Skin changes in chronic kidney disease

    OpenAIRE

    Joanna M. Przepiórka-Kosińska; Katarzyna M. Chyl-Surdacka; Joanna Bartosińska; Dorota Krasowska; Grażyna Chodorowska

    2017-01-01

    Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney fun...

  18. Case Report

    African Journals Online (AJOL)

    Arab Journal of Nephrology and Transplantation. 187. Nephrogenic Diabetes Insipidus all patients had delayed psychomotor development and five of them had seizures despite normal serum calcium levels [7]. Hypernatremia has been found to be associated with mild hypocalcemia, the mechanism for which is unknown [8 ...

  19. [Polyuria].

    Science.gov (United States)

    Wieliczko, Monika; Matuszkiewicz-Rowińska, Joanna

    2013-01-01

    Polyuria has been defined as an urine output exceeding 3 I/day in adults and 2 I/m2/day in children. The most common causes are: psychogenic polydipsia, diabetes insipidus (central and nephrogenic), chronic kidney disease and uncontrolled diabetes mellitus. The article focuses on diagnostic approach to a patient with polyuria.

  20. Lithium-induced NDI: acetazolamide reduces polyuria but does not improve urine concentrating ability

    NARCIS (Netherlands)

    Groot, T. de; Doornebal, J.; Christensen, B.M.; Cockx, S.; Sinke, A.P.; Baumgarten, R.; Bedford, J.J.; Walker, R.J.; Wetzels, J.F.M.; Deen, P.M.T.

    2017-01-01

    Lithium is the mainstay treatment for patients with bipolar disorder, but it generally causes nephrogenic diabetes insipidus (NDI), a disorder in which the renal urine concentrating ability has become vasopressin insensitive. Li-NDI is caused by lithium uptake by collecting duct principal cells and

  1. Author Details

    African Journals Online (AJOL)

    Vawda, Z. Vol 17, No 3 (2013) - Articles Nephrogenic systemic fibrosis (NSF) and gadolinium-based contrast media. Abstract PDF. ISSN: 2078-6778. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

  2. Author Details

    African Journals Online (AJOL)

    Ngoya, PS. Vol 17, No 3 (2013) - Articles Nephrogenic systemic fibrosis (NSF) and gadolinium-based contrast media. Abstract PDF. ISSN: 2078-6778. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

  3. Author Details

    African Journals Online (AJOL)

    Lotz, JW. Vol 17, No 3 (2013) - Articles Nephrogenic systemic fibrosis (NSF) and gadolinium-based contrast media. Abstract PDF. ISSN: 2078-6778. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

  4. Protease-activated receptor (PAR)-2 is required for PAR-1 signalling in pulmonary fibrosis

    NARCIS (Netherlands)

    Lin, Cong; von der Thüsen, Jan; Daalhuisen, Joost; ten Brink, Marieke; Crestani, Bruno; van der Poll, Tom; Borensztajn, Keren; Spek, C. Arnold

    2015-01-01

    Idiopathic pulmonary fibrosis is the most devastating diffuse fibrosing lung disease of unknown aetiology. Compelling evidence suggests that both protease-activated receptor (PAR)-1 and PAR-2 participate in the development of pulmonary fibrosis. Previous studies have shown that bleomycin-induced

  5. Pharmacological targeting of protease-activated receptor 2 affords protection from bleomycin-induced pulmonary fibrosis

    NARCIS (Netherlands)

    C. Lin (Cong); J. von der Thusen (Jan); J. Daalhuisen (Joost); M. Ten Brink (Marieke); B. Crestani (Bruno); T. van der Poll (Tom); K. Borensztajn (Keren); C. Arnold Spek (C.)

    2015-01-01

    textabstractIdiopathic pulmonary fibrosis is the most devastating diffuse fibrosing lung disease that remains refractory to therapy. Despite increasing evidence that protease-activated receptor 2 (PAR-2) contributes to fibrosis, its importance in pulmonary fibrosis is under debate. We addressed

  6. Pharmacological Targeting of Protease-Activated Receptor 2 Affords Protection from Bleomycin-Induced Pulmonary Fibrosis

    NARCIS (Netherlands)

    Lin, Cong; von der Thüsen, Jan; Daalhuisen, Joost; ten Brink, Marieke; Crestani, Bruno; van der Poll, Tom; Borensztajn, Keren; Spek, C. Arnold

    2015-01-01

    Idiopathic pulmonary fibrosis is the most devastating diffuse fibrosing lung disease that remains refractory to therapy. Despite increasing evidence that protease-activated receptor 2 (PAR-2) contributes to fibrosis, its importance in pulmonary fibrosis is under debate. We addressed whether PAR-2

  7. The emerging mysteries of IgG4-related disease

    NARCIS (Netherlands)

    Smit, Wouter; Barnes, Eleanor

    2014-01-01

    IgG4-related disease (IgG4-RD) is increasingly recognised in Western societies as a multi-system, inflammatory, fibrosing disease of unknown aetiology that typically, though not exclusively, presents in older men. The clinical manifestations are diverse and almost any organ may be affected. The

  8. Case Presentation at a Clinico-Pathological Conference*

    African Journals Online (AJOL)

    of low-strength mannitoi to reduce possible cerebral oede- ma. His convulsions were ..... No vascular lesions were noted but a few degenerate muscle fibres were ... The liver necrosis appears to have been a terminal event. Cases of fibrosing ...

  9. Case series

    African Journals Online (AJOL)

    abp

    1 oct. 2013 ... conduit, 23 patients ont eu une atteinte pulmonaire rhumatoïde à type de pneumonie infiltrante diffuse, de nodules rhumatoïdes pulmonaires ou de fibrose pulmonaire, 38 patients avaient un syndrome sec, dont 7 souffraient d'un goujerot sjogren retenu selon les critères de l'American European Consensus ...

  10. Dupuytren diathesis and genetic risk

    NARCIS (Netherlands)

    Dolmans, Guido H; de Bock, Geertruida H; Werker, Paul M

    2012-01-01

    PURPOSE: Dupuytren disease (DD) is a benign fibrosing disorder of the hand and fingers. Recently, we identified 9 single nucleotide polymorphisms (SNPs) associated with DD in a genome-wide association study. These SNPs can be used to calculate a genetic risk score for DD. The aim of this study was

  11. Potential novel targets: Protease-activated receptors in idiopathic pulmonary fibrosis

    NARCIS (Netherlands)

    Lin, C.

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is the most devastating diffuse fibrosing lung disease of unknown etiology. IPF patients suffer from severe breathlessness caused by decreasing lung compliance eventually leading to respiratory failure and death. The prognosis of IPF is devastating: there is only

  12. Case report of Graves’ disease manifesting with odynophagia and heartburn

    Science.gov (United States)

    Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

    2015-01-01

    Graves’ disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves’ disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171

  13. Case report of Graves' disease manifesting with odynophagia and heartburn.

    Science.gov (United States)

    Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

    2015-12-28

    Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment.

  14. Pattern of cutaneous manifestations in diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Goyal Abhishek

    2010-01-01

    Full Text Available Background: Diabetes mellitus affects individuals of all ages and socioeconomic status. Skin is affected by the acute metabolic derangements as well as by chronic degenerative complications of diabetes. Aims: To evaluate the prevalence of skin manifestations in patients with diabetes mellitus. To analyze the prevalence and pattern of skin disorders among diabetic patients from this region of Western Himalayas. Materials and Methods: One hundred consecutive patients with the diagnosis of diabetes mellitus and having skin lesions, either attending the diabetic clinic or admitted in medical wards were included in this study. Results: The common skin disorders were: x0 erosis (44%, diabetic dermopathy (36%, skin tags (32%, cutaneous infections (31%, and seborrheic keratosis (30%. Conclusion: Skin is involved in diabetes quite often and the manifestations are numerous. High prevalence of xerosis in our diabetic population is perhaps due to cold and dry climatic conditions in the region for most of the time in the year.

  15. A study on the cutaneous manifestations of diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Neerja Puri

    2012-04-01

    Full Text Available The cutaneous manifestations of diabetes mellitus are varied. We conducted a study of fifty patients having diabetes mellitus coming from the department of dermatology and medicine. The commonest cutaneous feature of diabetes were pyodermas seen in 40% patients, dermatophytosis seen in 36% patients, pruritis diabetic thick skin seen in 20 % patients, diabetic dermopathy seen in 16% patients, diabetic bulla and rubeosis seen in 8% patients each and meralgia paraesthetica and diabetic foot seen in 4% patients each. About the associations of diabetes mellitus, achrchordons were seen in 8% patients, vitiligo and perforating dermatoses were seen in 6% patients each, granuloma annulare, eruptive xanthomas, acanthosis nigricans, necrobiosis lipoidica and oral lichen planus were seen in 4 % patients each and xanthelasma was seen in 2% patients.

  16. Pathogenesis of Graves' disease and therapeutic implications

    International Nuclear Information System (INIS)

    Seif, F.J.

    1997-01-01

    Graves' disease presents itself clinically mainly as hyperthyroidism and infiltrative ophthalmopathy and to a minimal extent also as dermopathy and acropachy. Autoimmune processes are the basic pathogenesis. Stimulating antibodies against the TSH receptor cause hyperthyroidism. Autoantibodies and autoreactive T lymphocytes against primarily thyroidal antigens cross-react with similar antigens of the eye muscles and orbital connective tissue, thus spreading the disease from the thyroid to the eyes. The therapeutic goal comprises not only the treatment of hyperthyroidism, but also the induction of a steady immuntolerance in order to minimize the irreversible damage to the eye. The therapeutic armamentarium is formed by antithyroid drugs, glucocorticoids, retrobulbar radition and thyroid ablation, either by nearly total thyroidectomy or by radioiodine. The different indications for both ablative procedures are discussed. (orig.) [de

  17. Relationship between serum concetrations of type III procollagen, hyluronic acid and histopathological findings in the liver of HCV-positive blood donors Relação entre concentrações séricas de procolágeno tipo III, ácido hialurônico com achados histopatológicos do fígado em doadores de sangue anti-HCV positivos

    Directory of Open Access Journals (Sweden)

    Vera Regina Rodrigues Camacho

    2007-06-01

    Full Text Available BACKGROUND: Serologic markers have been proposed for monitoring hepatic fibrosis in chronic liver disease. Among fibrosis markers, type III procollagen (PIIIP and hyaluronic acid have been studied in these patients. AIM: To evaluate the association between these serum markers with histological findings. METHODS: A prospective cross-sectional study was carried out with HCV-positive blood donors. The studied population included men and women whose age ranged from 18 to 60 years, with elevated liver function tests [ALT levels > 1.5 times the normal value and alterations of two or more of the following: any changes in the levels of ALT, aspartate aminotransferase, conjugated bilirrubin, gammaglobulin, gammaglutamyltranspeptidase, albumin, platelet count; alkaline phosphatase levels >1.5 times the normal value, or prothrombin time below 70% and above 60%]. Fourty-nine patients were submitted to liver biopsy, blood analysis of PIIIP, hyaluronic acid, besides liver function tests. RESULTS: Liver function tests were not associated with tissular fibrosis, as assessed by ALT (>1.5 times above normal, fibrosis risk=18.8%; RACIONAL: Marcadores sorológicos têm sido propostos para monitorar fibrose hepática em doença crônica do fígado. Dentre os marcadores de fibrose, ácido hialurônico e procolágeno tipo III têm sido estudados nestes pacientes. OBJETIVO: Avaliar a associação de marcadores séricos de fibrose com achados histológicos. MÉTODOS: Foi realizado estudo transversal prospectivo em doadores de sangue anti-HCV positivos. A população estudada incluiu homens e mulheres com idade entre 18-60 anos com provas de função hepática alteradas (níveis de alanina aminotransferase >1.5 vezes do normal e alterações de dois ou mais dos seguintes: qualquer alteração nos níveis de alanina aminotransferase, aspartato aminotransferase, bilirrubina conjugada, gamaglobulina, gamaglutamiltranspeptidase, albumina, plaquetas, níveis de fosfatase

  18. Elevação dos níveis séricos de laminina na cirrose hepática induzida pelo tetracloreto de carbono

    Directory of Open Access Journals (Sweden)

    Neves Lindalva Batista

    2003-01-01

    Full Text Available RACIONAL: Laminina sérica tem sido correlacionada com a hipertensão portal e a capilarização dos sinusóides na doença hepática crônica. Pouco é conhecido sobre sua dinâmica nas doenças hepáticas. OBJETIVO: Estudar os níveis séricos de laminina e correlacioná-los com graus de fibrose hepática e hipertensão portal em ratos tratados com tetracloreto de carbono. MATERIAL E MÉTODO: Quarenta e nove ratos albinos Wistar foram mantidos como controles (n = 16 ou tratados com solução de tetracloreto de carbono a 8% (n = 23. Entre a 6ª e 16ª semana de experimento animais foram sacrificados após cateterização da veia porta e medida da pressão portal. Fragmentos de fígado foram fixados em formol para microscopia óptica. A fibrose hepática foi classificada em perivenular, septal incompleta e completa e cirrose. Concentração de laminina circulante foi determinada pela técnica de ensaio imunoenzimático com anticorpo desenvolvido a partir de laminina isolada de tumor Engelbreth-Holm-Swarm e purificado em coluna de afinidade. RESULTADOS: A pressão portal correlacionou-se com grau de fibrose hepática (r = 0,82; n = 45 e seus níveis nos grupos fibrose septal (10,8 ± 1,2 cm H2O e cirrose (13,6 + 3,1 cm H2O foram estatisticamente superiores aos observados no grupo-controle (7,9 + 1,5 cmH2O e no grupo com fibrose perivenular (9,1 + 0,8 cmH2O. A concentração de laminina no sangue periférico dos cirróticos (40,0 + 18,7 µg/dL foi significativamente superior aos grupos-controle (13,8 + 12,1 µg/dL, fibrose perivenular (19,1 + 15,5 e fibrose septal (22,2 + 27,0 µg/dL. Laminina circulante correlacionou-se de maneira significativa com o grau de fibrose hepática (r = 0,59; n = 49 e com os níveis de pressão portal (r = 0,29; n = 45. CONCLUSÕES: Na intoxicação crônica experimental pelo tetracloreto de carbono, níveis circulantes de laminina correlacionam-se mais com o grau de fibrose hepática do que com os níveis de hipertens

  19. Pretibial myxedema without ophthalmopathy: an initial presentation of Graves' disease.

    Science.gov (United States)

    Lohiya, Sheela; Lohiya, Vipin; Stahl, Elizabeth J

    2013-07-01

    To report a rare case of Graves' disease without ophthalmopathy presenting with pretibial myxedema (PM) as an initial presentation. We present the clinical history, physical findings, laboratory studies and biopsy data of a 62-year-old man with a history of uncontrolled type 2 diabetes (DM2) presenting with arm and leg skin lesions in the absence of other physical findings. Histopathology confirmed PM. Graves' disease and its association with PM without Graves' ophthalmopathy and the pertinent literature are reviewed. A 60-year-old man with a history of uncontrolled DM2 presented for glycemic management. He described symptoms of anxiety, insomnia and fatigue for the last 5 to 6 months. He described diffuse chest pain, occasionally associated with palpitations, and a 50-pound weight loss. He also complained of severe itching and burning of his arms and legs for the past several months. Subsequent thyroid studies revealed hyperthyroidism suggestive of Graves' disease. In the interim, he was hospitalized for atrial flutter and was cardioverted. After being started on methimazole, his symptoms abated. His skin lesions were biopsied, and the leg biopsy was consistent with PM. He however had no lid lag or proptosis characteristic of Graves' disease. He subsequently underwent radioiodine ablation. His hyperglycemia was better control led after treatment of his hyperthyroidism. PM is an autoimmune manifestation of Graves' disease. Almost all cases of thyroid dermopathy are associated with relatively severe ophthalmopathy. Usually ophthalmopathy appears first and dermopathy much later. However, this case represents a rare initial presentation of Graves' disease with PM without ophthalmologic symptoms or findings. Hyperthyroidism is typically associated with worsening glycemic control and increased insulin requirements. In patients with diabetes having hyperthyroidism, deterioration in glycemic control should be anticipated and treatment should be adjusted accordingly

  20. Diabetes insipidus and pregnancy.

    Science.gov (United States)

    Chanson, Philippe; Salenave, Sylvie

    2016-06-01

    Diabetes insipidus (DI) is a rare complication of pregnancy. It is usually transient, being due to increased placental production of vasopressinase that inactivates circulating vasopressin. Gestational, transient DI occurs late in pregnancy and disappears few days after delivery. Acquired central DI can also occur during pregnancy, for example in a patient with hypophysitis or neuroinfundibulitis during late pregnancy or postpartum. Finally, pre-existing central or nephrogenic DI may occasionally be unmasked by pregnancy. Treatment with dDAVP (desmopressin, Minirin(®)) is very effective on transient DI of pregnancy and also on pre-existing or acquired central DI. Contrary to vasopressin, dDAVP is not degraded by vasopressinase. Nephrogenic DI is insensitive to dDAVP and is therefore more difficult to treat during pregnancy if fluid intake needs to be restricted. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  1. Diabetes insipidus in pregnancy: how to advice the patient?

    Science.gov (United States)

    Refardt, Julie; Christ-Crain, Mirjam

    2018-02-19

    Diabetes insipidus, characterized by polyuria and polydipsia, is a rare disease during pregnancy. Nevertheless, its recognition is important to avoid complications due to dehydration and hypernatremia. Its manifestation during pregnancy ranges from exacerbation of pre-existing central or nephrogenic diabetes insipidus to transient pregnancy-induced diabetes insipidus due to the increased metabolism of the antidiuretic hormone vasopressin by the placental vasopressinase. Diagnosis can be challenging, as urinary frequency is common during pregnancy and primary polydipsia also needs to be excluded. Also the standard water deprivation test is not recommended during pregnancy due to the increased risk of complications. Treatment depends upon the final diagnosis, with desmopressin (DDAVP) being the medication of choice in AVP-deficient diabetes insipidus, whereas nephrogenic diabetes insipidus requires treatment of the underlying disease and supportive measures.

  2. Genetics of Diabetes Insipidus.

    Science.gov (United States)

    Schernthaner-Reiter, Marie Helene; Stratakis, Constantine A; Luger, Anton

    2017-06-01

    Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Diffusion-Weighted Magnetic Resonance Imaging in Renal Lesion Characterization

    Directory of Open Access Journals (Sweden)

    Elif Karadeli

    2012-03-01

    Conclusion: The technique has the advantage that it is non-invasive without need for gadolinium administration, takes about 2 minute. This method provides qualitative and quantitative infomation on tissue characterization. DA-MRI and ADC values are important for characterization of renal lesions. Especially, utility of diffusion-weighted magnetic resonance imaging in the patients with risk for nephrogenic systemic fibrosis (NSF could be beneficial. [Cukurova Med J 2012; 37(1: 27-36

  4. Metanephric Adenoma: clinical, imaging, and histological findings

    Energy Technology Data Exchange (ETDEWEB)

    Torricelli, Fabio Cesar Miranda; Marchini, Giovanni Scala, E-mail: fabio_torri@yahoo.com.b [Universidade de Sao Paulo (USP), SP (Brazil). Faculdade de Medicina. Dept. de Urologica; Campos, Rodrigo Sousa Madeira [Hospital do Servidor Publico Estadual, Sao Paulo, SP (Brazil). Dept. de Urologia; Gil, Antonio Otero [Instituto Dante Pazanezzi, Sao Paulo, SP (Brazil)

    2011-07-01

    Metanephric adenoma (MA), also designated nephrogenic nephroma or renal epithelial tumor resembling immature nephron, has just been recently recognized as a special type of benign renal epithelial tumor. Only few reports are found in the literature regarding this rare renal tumor. The purpose of this paper is to describe our clinical, imaging and histological / immunohistochemical observations of MA diagnosed in two patients and compare these data to previous information reported in medical databases (author)

  5. Diabetes insipidus in pregnancy

    Science.gov (United States)

    Hague, William M

    2009-01-01

    Diabetes insipidus is an uncommon condition with various aetiologies. Recent research has uncovered new mechanisms underlying the syndrome. Careful attention to management is essential in pregnant women to avoid serious complications. Diabetes insipidus in pregnancy may be due to relative reduction in secretion of AVP from the posterior pituitary (cranial DI), increase in breakdown of AVP by placental cystine aminopeptidase with vasopressinase activity, or resistance of the rental tubules to AVP (nephrogenic DI). PMID:27579058

  6. Skin changes in chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Joanna M. Przepiórka-Kosińska

    2017-04-01

    Full Text Available Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney function (dialysis therapy or kidney transplantation also leads to the resolution of skin lesions.

  7. MRI contrast media are used to improve visualization of abnormal structures or lesions in various parts of the body. Introduction

    DEFF Research Database (Denmark)

    Thomsen, H.S.; Marckmann, P.; Thomsen, Henrik S.

    2008-01-01

    Until recently it was believed that extracellular gadolinium based contrast agents (Gd-CA) were safe for both the kidneys and all other organs within the dose range up to 0.3mmol/kg body weight. However, in 2006, it was demonstrated that some Gd-CA may trig the development of nephrogenic systemic...... examination with a stable agent Udgivelsesdato: 2008/5...

  8. Plasma Apelin Concentrations in Patients With Polyuria-Polydipsia Syndrome.

    Science.gov (United States)

    Urwyler, Sandrine Andrea; Timper, Katharina; Fenske, Wiebke; de Mota, Nadia; Blanchard, Anne; Kühn, Felix; Frech, Nica; Arici, Birsen; Rutishauser, Jonas; Kopp, Peter; Stettler, Christoph; Müller, Beat; Katan, Mira; Llorens-Cortes, Catherine; Christ-Crain, Mirjam

    2016-05-01

    Apelin and arginine vasopressin are antagonists in the regulation of body fluid and osmotic homeostasis. There are no data about apelin levels in patients with polyuria-polydipsia syndrome (PPS). To investigate plasma apelin levels and plasma apelin to copeptin ratios in patients with PPS and healthy volunteers using copeptin as a surrogate marker for arginine vasopressin. We included 41 patients with PPS in this post hoc analysis of a prospective study performed in tertiary care hospitals in Switzerland and Germany and 113 healthy volunteers as a control group. Plasma apelin and copeptin levels were measured in 15 patients with complete central diabetes insipidus (DI), seven patients with complete nephrogenic DI, 19 patients with primary polydipsia (PP), and 113 healthy volunteers. Plasma apelin levels were highest in patients with complete nephrogenic DI (413 pmol/L; interquartile range, 332-504 pmol/L; P = .01) and lower in patients with PP (190 [172-215] pmol/L; P .9) was similar to healthy volunteers (57 [37-102] pmol/pmol). In contrast, the apelin to copeptin ratio was higher in patients with complete central DI (89 [73-135] pmol/pmol; P = .02) and lower in patients with complete nephrogenic DI (7 [6-10] pmol/pmol; P < .001) compared to healthy volunteers. In PP, normal plasma apelin to copeptin ratio attests a normal water homeostasis. In contrast, in patients with central or nephrogenic DI, the increased or decreased apelin to copeptin ratio, respectively, reflects a disturbed osmotic and body fluid homeostasis.

  9. Diabetes Insipidus in Mice with a Mutation in Aquaporin-2.

    Directory of Open Access Journals (Sweden)

    2005-08-01

    Full Text Available Congenital nephrogenic diabetes insipidus (NDI is a disease characterized by failure of the kidney to concentrate urine in response to vasopressin. Human kindreds with nephrogenic diabetes insipidus have been found to harbor mutations in the vasopressin receptor 2 (Avpr2 gene or the vasopressin-sensitive water channel aquaporin-2 (Aqp2 gene. Development of a treatment is rendered difficult due to the lack of a viable animal model. Through forward genetic screening of ethylnitrosourea-mutagenized mice, we report the identification and characterization of a mouse model of NDI, with an F204V mutation in the Aqp2 gene. Unlike previously attempted murine models of NDI, our mice survive to adulthood and more exactly recapitulate the human disorder. Previous in vitro experiments using renal cell lines suggest recessive Aqp2 mutations result in improper trafficking of the mutant water pore. Using these animals, we have directly proven this hypothesis of improper AQP2 translocation as the molecular defect in nephrogenic diabetes insipidus in the intact organism. Additionally, using a renal cell line we show that the mutated protein, AQP2-F204V, is retained in the endoplasmic reticulum and that this abnormal localization can be rescued by wild-type protein. This novel mouse model allows for further mechanistic studies as well as testing of pharmacological and gene therapies for NDI.

  10. Imaging appearances of synovial plicae syndrome of the knee

    OpenAIRE

    Osama Abdalla Mabrouk Kheiralla

    2016-01-01

    Synovial plicae are synovial folds that may be found as intraarticular structures within the knee joint. They are remnants of incomplete resorption of mesenchymal tissue during fetal development. Synovial plicae, if present, are supposed to be non-pathological and asymptomatic, however if they are exposed to special events like direct trauma or repeated activities, they may be inflamed and become fibrosed and rigid and irritates the synovium of the underlying femoral condyle resul...

  11. Paracoccidioidomycosis: high-resolution computed tomography - anatomo-pathological correlation; Paracoccidioidomicose: correlacao da tomografia computadorizada de alta resolucao com a anatomopatologia

    Energy Technology Data Exchange (ETDEWEB)

    Marchiori, Edson; Muniz, Maria Angelica Soares; Santos, Maria Lucia de Oliveira [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Inst. de Radiologia; Moraes, Heleno Pinto de [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Inst. de Patologia; Capone, Domenico [Universidade do Estado, Rio de Janeiro, RJ (Brazil). Inst. de Pneumologia

    2000-12-01

    We reviewed the high-resolution computed tomography scans of 13 patients with paracoccidioidomycosis and correlated the findings with the anatomo-pathological findings of 5 patients. The most frequent findings observed were thickening of the interlobular septa, emphysema, ground glass areas, thickening of bronchial walls, tracheal dilatation, nodules, cavities and evidence of fibrosing disease such as architectural distortion, parenchymatous bands, spicular pleural thickening, intralobular reticulate and thickening with distortion off the axial interstitium. (author)

  12. Research

    African Journals Online (AJOL)

    ebutamanya

    15 mars 2016 ... Selon les marqueurs évolutifs, 112 patients (78,3%) avaient un AgHBe négatif. Quant à la charge virale, 106 patients (74,2%) avaient une virémie inférieure à 2000UI/ml et une fibrose minime inférieure à 7kpa selon le FibroScan. Parmi eux, 13 malades avaient un ADN du VHB indétectable (<20UI/ml).

  13. Scleroderma Mimickers

    Science.gov (United States)

    Morgan, Nadia D.; Hummers, Laura K.

    2017-01-01

    Opinion statement Cutaneous fibrosing disorders encompass a diverse array of diseases united by the presence of varying degrees of dermal sclerosis. The quality and distribution of skin involvement, presence or absence of systemic complications and unique associated laboratory abnormalities often help to distinguish between these diseases. It is imperative that an effort is made to accurately differentiate between scleroderma and its mimics, in order to guide long-term management and facilitate implementation of the appropriate treatment modality where indicated. PMID:28473954

  14. The diffuse interstitial lung disease - with emphasis in the idiopathic interstitial pneumonias

    International Nuclear Information System (INIS)

    Bustillo P, Jose G; Pacheco, Pedro M; Matiz, Carlos; Ojeda, Paulina; Carrillo B, Jorge A.

    2003-01-01

    The term diffuse interstitial lung disease, it refers to those diseases that commit the interstice basically, the space between the membrane basal epithelial and endothelial, although the damage can also commit the outlying air spaces and the vessels; the supplement is centered in the diffuse interstitial lung illness of unknown cause; well-known as idiopathic interstitial pneumonias, making emphasis in the more frequents, the pulmonary fibrosis idiopathic or cryptogenic fibrosant alveolitis

  15. Morphea: Evidence-based recommendations for treatment

    OpenAIRE

    Nicole M Fett

    2012-01-01

    Morphea is a rare fibrosing disorder of the skin. Evidence-based treatment strategies in morphea are lacking. This review summarizes the available data on morphea treatment and provides therapeutic strategies based on morphea subtypes. The Cochrane Library, Medline and Embase from inception until May of 2011 were searched using the key words "morphea" and "morphea treatment." Reference lists of the resultant articles, as well as relevant reviews, were also searched. This review focuses on ran...

  16. Coexisting Morphea and Bullous Lichen Sclerosus Et Atrophicus: A Case Report

    OpenAIRE

    Nurcan Metin; Mahizer Yaldız; Teoman Erdem; Şahin Erdem

    2015-01-01

    Morphea and lichen skleroatrofikans (LSA)are localized fibrosing diseases characterized by well-defined fibrotic plaques. Blisters rarely occur on morphea plaque, and these blisters are mostly considered as bullous morphea which is a rare type of morphea. The cases of bullous LSA growing on plaque morphea are rarer. In this case report, we presented a patient has bullous lesions compatible with of lichen skleroatrofikans clinically and histopathologically on morphea lesions, to draw attention...

  17. Einfluss von Hypothyreose und Mukoviszidose auf das Ruhe- und Belastungs-EKG

    OpenAIRE

    Gerlach, Julia

    2009-01-01

    Bei Menschen, die an cystischer Fibrose oder auch an einer Hypothyreose erkrankt sind, ist die Beteiligung des Herz-Kreislauf-Systems eine bekannte Komplikation. Ziel dieser Arbeit war, möglicherweise bislang unbekannte Auswirkungen dieser Erkrankungen auf das Belastungs-EKG von Kindern und Jugendlichen zu identifizieren und ggf. zu deuten. Dadurch sollte die Beurteilbarkeit des Belastungs-EKGs bei der Untersuchung der genannten Patientengruppen verbessert werden. Es wurden insgesamt 64 Patie...

  18. Inflammatory Pseudotumor of the Pituitary Gland Mimicking a Pituitary Adenoma: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Da Mi; Yu, In Kyu [Dept. of Radiology, Eulji University Hospital, Daejeon (Korea, Republic of); Kim, Han Kyu [Dept. of Neurosurgery, Eulji University Hospital, Daejeon (Korea, Republic of); Son Hyun Jin [Dept. of Pathology, Eulji University Hospital, Daejeon (Korea, Republic of)

    2011-04-15

    A 38-year-old man was admitted to our hospital with diplopia. The patient had a relatively well-defined pituitary mass with high cellularity as well as weaker enhancement on imaging modalities including computed tomography (CT) and magnetic resonance imaging (MRI), than a typical pituitary adenoma. The distinction between a pseudotumor and an invasive neoplasm is very difficult before biopsy. In this case report, we discuss the characteristic imaging features of a fibrosing inflammatory pseudotumor of the pituitary gland

  19. Riedel thyroiditis: Fine needle aspiration findings of a rare entity.

    Science.gov (United States)

    Weidner, Anna-Sophie; Molina, David; DeSimone, Robert A; Cohen, Marc A; Giorgadze, Tamar; Scognamiglio, Theresa; Hoda, Rana S

    2015-09-01

    Riedel thyroiditis is a rare fibrosing disorder characterized by extension of the fibroinflammatory process beyond the thyroid capsule. Due to the nature of this lesion, fine-needle aspiration often yields scant material and may be interpreted as non-diagnostic. In this report, we describe cytologic features that allow the cytopathologist to favor a diagnosis of Riedel thyroiditis, thereby guiding appropriate further work-up and management. © 2015 Wiley Periodicals, Inc.

  20. PROGRESSION OF LIVER FIBROSIS IN MONOINFECTED PATIENTS BY HEPATITIS C VIRUS AND COINFECTED BY HCV AND HUMAN IMMUNODEFICIENCY VIRUS

    Directory of Open Access Journals (Sweden)

    Cristiane Valle TOVO

    2013-03-01

    Full Text Available Context The progression of liver fibrosis in patients coinfected by hepatitis C virus and human immunodeficiency virus (HCV/HIV has been increasingly studied in the past decade. Studies made before the highly active antiretroviral therapy suggest that HIV can change the natural history of the HCV infection, leading to a faster progression of the liver fibrosis. Objective To evaluate and compare the fibrosis progression in two groups of patients (HCV/HIV coinfected and HCV monoinfected Methods Seventy patients HCV monoinfected and 26 patients HCV/HIV coinfected who had not undertaken HCV treatment and were submitted to serial percutaneous liver biopsies were retrospectively evaluated. There was no difference in the fibrosis progression between the two groups. Conclusion The fibrosis grade evolution was not worse in the coinfected patients. The immunosuppression absence and the shortest time period between the biopsies in the coinfected group are possible explanations. Contexto A progressão da fibrose hepática em pacientes coinfectados pelos vírus da hepatite C (VHC e da imunodeficiência humana (VHC/HIV tem sido mais estudada na última década. Estudos realizados antes da terapia antiretroviral de alta potência (HAART sugerem que o HIV pode mudar a história natural da infecção pelo VHC, levando a uma progressão mais rápida da fibrose hepática. Objetivo Avaliar e comparar a progressão de fibrose em duas populações de pacientes (coinfectados VHC/HIV e monoinfectados VHC. Métodos Foram avaliados retrospectivamente 70 pacientes monoinfectados VHC e 26 coinfectados VHC/HIV nunca tratados para o VHC e que haviam realizado duas biopsias hepáticas seriadas. Não houve diferença na progressão de fibrose entre os dois grupos. Conclusão A evolução do grau de fibrose não foi pior nos pacientes coinfectados. A ausência de imunodepressão e o menor intervalo de tempo entre as biopsias no grupo de coinfectados são poss

  1. Hipertensão arterial pulmonar: uso do realce tardio miocárdico pela ressonância magnética cardíaca na avaliação de risco

    Directory of Open Access Journals (Sweden)

    Luiz Gustavo Pignataro Bessa

    2013-10-01

    Full Text Available FUNDAMENTO: A hipertensão arterial pulmonar é uma doença grave e progressiva. O maior desafio clínico é seu diagnóstico precoce. OBJETIVO: Avaliar a presença e a extensão do realce tardio miocárdico pela ressonância magnética cardíaca bem como verificar se o percentual da massa de fibrose miocárdica é indicador de gravidade. MÉTODOS: Estudo transversal com 30 pacientes com hipertensão arterial pulmonar dos grupos I e IV, submetidos às avaliações clínica, funcional e hemodinâmica, e à ressonância magnética cardíaca. RESULTADOS: A média de idade dos pacientes foi de 52 anos, com predomínio do gênero feminino (77%. Dentre os pacientes, 53% apresentavam insuficiência ventricular direita ao diagnóstico, e 90% encontravam-se em classe funcional II/III. A média do teste de caminhada de 6 minutos foi de 395 m. No estudo hemodinâmico com o cateterismo direito, a média da pressão arterial pulmonar foi de 53,3 mmHg, do índice cardíaco de 2,1 L/min.m², e a mediana da pressão atrial direita foi de 13,5 mmHg. Realce tardio do miocárdio pela ressonância magnética cardíaca foi encontrado em 28 pacientes. A mediana da massa de fibrose foi 9,9 g e do percentual da massa de fibrose de 6,17%. A presença de classe funcional IV, insuficiência ventricular direita ao diagnóstico, teste de caminhada de 6 minutos 15 mmHg, com índice cardíaco < 2,0 L/min.m², teve associação significativa com maior percentual de fibrose miocárdica. CONCLUSÃO: O percentual da massa de fibrose miocárdica mostra-se um marcador não invasivo com perspectivas promissoras na identificação do paciente portador de hipertensão pulmonar com fatores de alto risco.

  2. New advances in the therapy of non-cystic fibrosis bronchiectasis

    Directory of Open Access Journals (Sweden)

    A. Amorim

    2013-11-01

    Full Text Available Non-cystic fibrosis bronchiectasis remains a common and important respiratory disease to date. It is a chronic pathology and consequently the patients usually require continuous treatment.In recent decades therapies that do not have scientific evidence of their benefits have been commonly used in non-cystic fibrosis bronchiectasis. Cystic fibrosis has provided the experience to extrapolate therapeutic approaches to other bronchiectasis patients. Finally, in the last few years some trials have been carried out specifically in non-cystic fibrosis bronchiectasis which aim to assess the efficacy of some of the treatments which are commonly used but sometimes without clear indication.This review will discuss the recent results from these trials, namely mucoactive, anti-inflammatory and antibiotic therapy. Several trials are ongoing and we hope they will be able to add clarification to the management of these patients. Resumo: As bronquiectasias não-fibrose quística continuam a ser uma doença respiratória comum e importante. Trata-se de uma patologia crónica e, consequentemente, os doentes geralmente precisam de um tratamento contínuo.Nas últimas décadas, tratamentos sem evidência científica dos seus benefícios foram comumente usadas nas bronquiectasias não-fibrose quística. A fibrose quística serviu de experiência para extrapolar a abordagem terapêutica para outros doentes com bronquiectasias. Finalmente, nos últimos anos, foram realizados alguns ensaios bronquiectasias não-fibrose quística que visam avaliar a eficácia de alguns dos tratamentos que são comummente usados mas por vezes sem uma clara indicação.Nesta revisão serão apresentados os resultados recentes destes ensaios, nomeadamente sobre o tratamento mucoactivo, anti-inflamatório e antibiótico. Diversos estudos estão a decorrer e esperamos que estes venham a esclarecer a abordagem mais adequada destes doentes. Keywords: Non-cystic fibrosis bronchiectasis, Advances

  3. Doença intersticial pulmonar em doentes com artrite reumatóide: comparação com a alveolite fibrosante criptogénica

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    B.A. Rajasekaran

    2002-09-01

    Full Text Available RESUMO: Os autores efectuaram um estudo prospectivo longitudinal com o objectivo de comparar a história natural da alveolite fibrosante criptogénica (AFC com a doença do interstício pulmonar (DIP relacionada com a artrite reumatóide (AR.Seleccionaram 1 grupo de 18 doentes com AFC e um grupo de 18 doentes com AR e doença do interstício pulmonar. Ambos os grupos apresentavam idade, sexo e duração da doença semelhantes, tendo todos os doentes sido submetidos a uma avaliação clínica, estudo funcional respiratório e TAC torácica de alta resolução.Os resultados revelaram que, em termos clínicos, a dispneia apresentava uma evolução média de 30 meses até ao diagnóstico nos 2 grupos, sendo mais frequente o hipocratismo digital nos doentes apenas com AFC. A presença de Factor Reumatóide foi superior nos doentes com AR e, segundo estes autores, estava relacionada com um pior prognóstico a nível articular mas parecia ser um factor protector contra a fibrose pulmonar neste grupo.A nível de estudo funcional respiratório, os resultados foram praticamente sobreponíveis quer a nível do VEMS, capacidade vital e capacidade de difusão (DLCO nos 2 grupos de doentes.Radiologicamente, nos doentes com artrite reumatóide, a TAC revelou uma maior percentagem de alveolite (vidro despolido em 4 casos, tendo os restantes 14 doentes fibrose pulmonar estabelecida, tal como no outro grupo estudado. Os doentes com AR apresentavam ainda uma distribuição mais periférica das lesões pulmonares, ao contrário dos outros doentes, em que predominavam as alterações basais.Uma diminuição mais acentuada da DLCO correlacionou-se com a existência de fibrose em favo na TAC em ambos os grupos. COMENTÁRIO: A alveolite fibrosante criptogénica, sinónimo de fibrose pulmonar idiopática, possui um mau prognóstico, com uma sobrevida média aos 5 anos após o diagnóstico de cerca de 50%, e aos 10 anos de aproximadamente 20%.A incidência de doença do

  4. Clinically Relevant Subsets Identified by Gene Expression Patterns Support a Revised Ontogenic Model of Wilms Tumor: A Children's Oncology Group Study

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    Samantha Gadd

    2012-08-01

    Full Text Available Wilms tumors (WT have provided broad insights into the interface between development and tumorigenesis. Further understanding is confounded by their genetic, histologic, and clinical heterogeneity, the basis of which remains largely unknown. We evaluated 224 WT for global gene expression patterns; WT1, CTNNB1, and WTX mutation; and 11p15 copy number and methylation patterns. Five subsets were identified showing distinct differences in their pathologic and clinical features: these findings were validated in 100 additional WT. The gene expression pattern of each subset was compared with published gene expression profiles during normal renal development. A novel subset of epithelial WT in infants lacked WT1, CTNNB1, and WTX mutations and nephrogenic rests and displayed a gene expression pattern of the postinduction nephron, and none recurred. Three subsets were characterized by a low expression of WT1 and intralobar nephrogenic rests. These differed in their frequency of WT1 and CTNNB1 mutations, in their age, in their relapse rate, and in their expression similarities with the intermediate mesoderm versus the metanephric mesenchyme. The largest subset was characterized by biallelic methylation of the imprint control region 1, a gene expression profile of the metanephric mesenchyme, and both interlunar and perilobar nephrogenic rests. These data provide a biologic explanation for the clinical and pathologic heterogeneity seen within WT and enable the future development of subset-specific therapeutic strategies. Further, these data support a revision of the current model of WT ontogeny, which allows for an interplay between the type of initiating event and the developmental stage in which it occurs.

  5. Diagnostic Accuracy of Copeptin in the Differential Diagnosis of the Polyuria-polydipsia Syndrome: A Prospective Multicenter Study.

    Science.gov (United States)

    Timper, Katharina; Fenske, Wiebke; Kühn, Felix; Frech, Nica; Arici, Birsen; Rutishauser, Jonas; Kopp, Peter; Allolio, Bruno; Stettler, Christoph; Müller, Beat; Katan, Mira; Christ-Crain, Mirjam

    2015-06-01

    The polyuria-polydipsia syndrome comprises primary polydipsia (PP) and central and nephrogenic diabetes insipidus (DI). Correctly discriminating these entities is mandatory, given that inadequate treatment causes serious complications. The diagnostic "gold standard" is the water deprivation test with assessment of arginine vasopressin (AVP) activity. However, test interpretation and AVP measurement are challenging. The objective was to evaluate the accuracy of copeptin, a stable peptide stoichiometrically cosecreted with AVP, in the differential diagnosis of polyuria-polydipsia syndrome. This was a prospective multicenter observational cohort study from four Swiss or German tertiary referral centers of adults >18 years old with the history of polyuria and polydipsia. A standardized combined water deprivation/3% saline infusion test was performed and terminated when serum sodium exceeded 147 mmol/L. Circulating copeptin and AVP levels were measured regularly throughout the test. Final diagnosis was based on the water deprivation/saline infusion test results, clinical information, and the treatment response. Fifty-five patients were enrolled (11 with complete central DI, 16 with partial central DI, 18 with PP, and 10 with nephrogenic DI). Without prior thirsting, a single baseline copeptin level >21.4 pmol/L differentiated nephrogenic DI from other etiologies with a 100% sensitivity and specificity, rendering a water deprivation testing unnecessary in such cases. A stimulated copeptin >4.9 pmol/L (at sodium levels >147 mmol/L) differentiated between patients with PP and patients with partial central DI with a 94.0% specificity and a 94.4% sensitivity. A stimulated AVP >1.8 pg/mL differentiated between the same categories with a 93.0% specificity and a 83.0% sensitivity. This study was limited by incorporation bias from including AVP levels as a diagnostic criterion. Copeptin is a promising new tool in the differential diagnosis of the polyuria-polydipsia syndrome

  6. A utilização da Pfaffia glomerata no processo de cicatrização de feridas da pele Pfaffia glomerata in the process of healing of skin wounds

    Directory of Open Access Journals (Sweden)

    Marileide Inacio da Silva

    2010-12-01

    Full Text Available RACIONAL: Quando ocorre perda tecidual na pele surge a necessidade de reconstituir-se o tecido lesionado e atualmente cada vez mais surgem artifícios que se propõem neoformá-lo. O uso de fitoterápicos, como a Pfaffia glomerata, tem a finalidade de buscar nestes produtos princípios ativos que desempenhem efetivo papel no processo de cicatrização. OBJETIVO: Avaliar os resultados da utilização da Pfaffia glomerata na cicatrização de feridas cirúrgicas em ratos. MÉTODOS: Foram utilizados 40 ratos, nos quais realizaram-se feridas cirúrgicas com punch de 3 mm de diâmetro no dorso da parte superior direita onde nenhuma substância foi aplicada e nesses mesmos animais foram também realizadas feridas cirúrgicas na região inferior, onde foi aplicado o extrato do fitoterápico. Foram divididos em quatro subgrupos de 48 horas, uma, duas e três semanas em relação ao sacrifício. Foram tomadas as medidas na circunferência para analisar a contração da ferida macroscopicamente. Microscopicamente os resultados foram analisados utilizando-se a coloração de Hematoxilina-Eosina, para verificar o processo inflamatório; imunohistoquímica, fator VIII, para observar a densidade vascular; e tricrômio de Masson para estudar a fibrose. RESULTADOS: Macroscopicamente o grupo planta obteve resultados superiores ao grupo controle. A análise da variável fator VIII mostrou significância estatística no grupo de uma semana do fitoterápico. Na variável fibrose, constatou-se que no período de 48 horas o grupo controle apresentou 70% de casos com fibrose mínima, ao passo que o da planta, 90%. Em uma semana, o grupo controle apresentou 10% de casos com ausência de fibrose , 60% com fibrose mínima e 30% com fibrose moderada, enquanto que o grupo planta apresentou 70% de casos com fibrose mínima e 30% com fibrose moderada. Já no período de duas semanas, o grupo controle manteve 60% dos casos com fibrose mínima e aumentou para 40% os com

  7. Mimics of scleroderma

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    Kaveri K Nalianda

    2017-01-01

    Full Text Available Systemic sclerosis is a rare autoimmune connective tissue disorder characterised typically by tightening and tethering of skin. However, several other disorders are also characterised by hardening and thickening of skin. These mimics can be potentially confused with systemic sclerosis, leading to a misdiagnosis. This review describes the aetiopathogenesis, clinical features and treatment of Morphea (localised scleroderma, Scleredema, Scleromyxoedema, Eosinophilic fasciitis, Nephrogenic Systemic Fibrosis, Diabetic Cheiroarthropathy, chronic GVHD, POEMS syndrome and drug induced scleroderma like illness. A careful and thorough clinical assessment is essential in order to differentiate these mimics from each other and from systemic sclerosis, establish the diagnosis, and initiate appropriate treatment.

  8. Lithium induces microcysts and polyuria in adolescent rat kidney independent of cyclooxygenase-2

    DEFF Research Database (Denmark)

    Kjærsgaard, Gitte; Madsen, Kirsten; Marcussen, Niels

    2014-01-01

    In patients, chronic treatment with lithium leads to renal microcysts and nephrogenic diabetes insipidus (NDI). It was hypothesized that renal cyclooxygenase-2 (COX-2) activity promotes microcyst formation and NDI. Kidney microcysts were induced in male adolescent rats by feeding dams with lithium......, and inactive pGSK-3β in collecting duct; a blocker of COX-2 does not prevent cell proliferation, cyst formation, or GSK-3β inactivation. It is concluded that COX-2 activity is not the primary cause for microcysts and polyuria in a NaCl-substituted rat model of lithium nephropathy. COX-1 is a relevant candidate...

  9. Glycogen synthase kinase 3α regulates urine concentrating mechanism in mice

    DEFF Research Database (Denmark)

    Nørregaard, Rikke; Tao, Shixin; Nilsson, Line

    2015-01-01

    vasopressin. When water deprived, they failed to concentrate their urine to the same level as WT littermates. The addition of 1-desamino-8-d-arginine vasopressin to isolated inner medullary collecting ducts increased the cAMP response in WT mice, but this response was reduced in GSK3αKO mice, suggesting......KO mice, the polyuric response was markedly reduced. This study demonstrates, for the first time, that GSK3α could play a crucial role in renal urine concentration and suggest that GSK3α might be one of the initial targets of Li(+) in LiCl-induced nephrogenic diabetes insipidus....

  10. Patient selection and preparation strategies for the use of contrast material in patients with chronic kidney disease

    DEFF Research Database (Denmark)

    Andersen, Poul Erik

    2012-01-01

    administration of iodinated contrast media can result in contrast-induced acute kidney injury and Gadolinium can induce nephrogenic systemic fibrosis (NSF). It is important to identify these high-risk patients by means of se-creatinine/e glomerular filtration rate. The indication for contrast examination should......The prevalence of chronic kidney disease and peripheral arterial disease is increasing. Thus, it is increasingly problematic to image these patients as the number of patients needing a vascular examination is increasing accordingly. In high-risk patients with impaired kidney function, intravascular...

  11. [Clinical case of the month. Renovascular arterial hypertension complicated by diabetes insipidus: report of a case and review of the literature].

    Science.gov (United States)

    Feloni, S; Radermacher, L; Remy, C; Jousten, J; Corman, V

    2013-01-01

    Mrs. A, a 62 year old patient with a history of hypertension, polyuria and polydipsia is hospitalized after a malaise. A severe hypokalemia, which is the cause of the polyuria and polydipsia, is discovered. The presence of hypertension and hypokalemia arises suspicion of a primary hyperaldosteronism and the plasma levels of renin and aldosterone are measured. Elevated aldosterone levels are combined with high plasma renin concentrations which permits to rule out primary hyperaldosteronism. Further explorations reveal a subocclusive ostial stenosis of the right renal artery. A treatment by sartan is instaured, which allows arterial pressure control and kalemia normalization. Chronic hypokalemia can be the cause of tubular nephropathy manifested by nephrogenic diabetes insipidus.

  12. [Complications due to contrast agent administration: what has been confirmed in prevention?].

    Science.gov (United States)

    Schönenberger, E; Mühler, M; Dewey, M

    2010-12-01

    Computed tomography (CT) and magnetic resonance imaging (MRI) have been evaluated by internists to be the most important medical innovations. Often, intravenous contrast agent administration is required for answering the clinical questions to CT and MRI. In this review we present an overview of the most common and most important aspects that need to be considered prior to intravenous contrast agent administration. We discuss aspects of renal impairment (contrast-induced nephropathy, nephrogenic systemic fibrosis), allergy-like reactions, hyperthyroidism, and pregnancy and breast-feeding.

  13. Water deprivation test in children with polyuria.

    Science.gov (United States)

    Wong, Lap Ming; Man, Sze Shun

    2012-01-01

    Polyuria is an uncommon clinical presentation in paediatric practice. When diabetes mellitus has been excluded by history taking and preliminary investigations and impaired renal concentrating ability is confirmed, water deprivation test (WDT) is necessary to differentiate among central diabetes insipidus (CDI), nephrogenic diabetes insipidus, or primary polydipsia. Traditionally, responsiveness to desmopressin injection is defined as urine osmolality >750 mOsm/kg. However, that level could not be reached in the review of our patients. We discuss how to arrive at the diagnosis of CDI in WDT. An approach to polyuria and WDT will also be discussed.

  14. Water homeostasis and diabetes insipidus in horses.

    Science.gov (United States)

    Schott, Harold C

    2011-04-01

    Diabetes insipidus (DI) is a rare disorder of horses characterized by profound polyuria and polydipsia (PU/PD), which can be caused by loss of production of arginine vasopressin (AVP). This condition is termed neurogenic or central DI. DI may also develop with absence or loss of AVP receptors or activity on the basolateral membrane of collecting-duct epithelial cells. This condition is termed nephrogenic DI. Equine clinicians may differentiate true DI from more common causes of PU/PD by a systematic diagnostic approach. DI may not be a correctable disorder, and supportive care of affected horses requires an adequate water source. Copyright © 2011 Elsevier Inc. All rights reserved.

  15. Nonenhanced MR angiography techniques

    International Nuclear Information System (INIS)

    Lanzman, R.S.; Kroepil, P.; Blondin, D.; Schmitt, P.

    2011-01-01

    Especially in regard to the potential risks for the development of nephrogenic systemic fibrosis (NSF) following the administration of Gadolinium-based contrast material, nonenhanced MR angiography (MRA) methods are becoming ever more important. Besides well-established time-of-flight (TOF) and phase-contrast (PC) MRA, alternative imaging techniques based on balanced steady-state free precession (bSSFP) and turbo-spin-echo (TSE) sequences are increasingly used in combination with or without arterial spin labeling (ASL) strategies. This article provides an overview of the principles and clinical values of different nonenhanced MRA techniques. In addition, recent nonenhanced MRA developments are presented. (orig.)

  16. Pengaruh Pemberian Valsartan Dan Kurkumin Terhadap Pembentukan Fibrosis Di Tubulus Proksimal Ginjal Akibat Obstruksi Ureter Unilateral pada Tikus Wistar.

    Directory of Open Access Journals (Sweden)

    Lubis M

    2013-01-01

    . Perbedaan bermakna terbentuKata kunci: Obstruksi ureter, Valsartan, Kurkumin, Fibrosis, Degenerasi hidrofilik, AtrofiAbstractIntroduction: ureter obstruction is a condition where is an obstacle for urine flow from renal to blast (vesica urinaria. The obstruction in ureter will decrease glomerulus filtration flow and it destroys renal parenchym. Fibroses in obstructed renal present through two mediators, there are necrotizing tumor factors-α (TNF-α and angiotension-II. Obstruction of this two mediators will decrease fibroses grading in proximal tubules of renal caused by obtruction. One of TNF-α inhibitors is curcumene and angiotension-II will be obstructed by valsartan. Methods: this experiment is kind of experimental type using animal experiment (Wistar Mice. Wistar Mice are divided into two groups, each group consist of 15 mice, so the total are 30 mice. This animals tighted with at proximal ureter The first group is control one, given valsartan. The second group is given valsartan and curcumene. Oral route and dilution before given. Medicine is given use 1 cc spuit. Giving action in 14 days. The fifteenth day, we take renal of Wistar and do histology examination. Significant difference between fibroses forming in proximal tubulus analyzed by Chi Square Statistic Test with correction of Yates and T-Test, beside that, hydofic degeneration and atrophy in proximal tubulus analyzed by T-Test Statistic Test. Result: there is significant difference in forming of fibroses in proximal tubules of renal between action group and controlled group (Chi Square with p ≤ 0.0001 and T-Test with p ≤ 0.000. In hydrophilic degeneration forming in proximal tubules gotten significant difference between two groups ( T-Test with p ≤ 0.000. In atrophy forming in proximal tubules, there is important difference between two groups (T-Test with p ≤ 0.000.Concultion. There is an effect in giving valsartan and curcumene to fibroses forming in proximal tubules of renal. There is significant

  17. Miopatia por propoxifeno: relato de 2 casos com histoquimica de músculos

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1981-03-01

    Full Text Available São relatados os casos de dois pacientes sofredores de dores crônicas (um com gota e outro com lombalgia, que desenvolveram o vício pelo dextro-propo-xifeno, administrado por via intramuscular. Isto determinou alterações importantes na musculatura onde eram aplicado as injeções, com endurecimento da pele, edema e diminuição da mobilidade do membro afetado. A investigação revelou miopatia crônica, com intensa fibrose do tecido conjuntivo perimisial e endomisial, com infiltração por células linfomonocitárias; havia também atrofia de fibras musculares nas regiões próximas e fibrose com atividade muito aumentada para a fosfatase alcalina no local das lesões. Eletromiografia em um dos casos sugeria denervação e, no outro, envolvimento muscular primário. A retirada da medicação determinou regressão dos sintomas e sinais, mas o retorno de ambos os pacientes ao hábito, fêz recrudescer o processo. São discutidos os achados clínico-patológicos comparando com outras medicação e agressões físicas que acometendo o tecido muscular, acabam levando o musculo à fibrose. Possivelmente as injeções intramusculares repetidas, a irritação pelo cloridrato de dextro-propoxifeno e a redução da drenagem linfática sejam as causas dos sintomas e alterações patológicas.

  18. O Projeto Queixadinha: a morbidade e o controle da esquistossomose em área endêmica no nordeste de Minas Gerais, Brasil

    Directory of Open Access Journals (Sweden)

    José Roberto Lambertucci

    1996-04-01

    Full Text Available Nos últimos cinco anos, em uma área endêmica para esquistossomose no nordeste de Minas Gerais, 561 indivíduos submeteram-se a exames clínico, laboratoriais, ultra-sonografia abdominal e dopplerecocardtografia visando definir a morbidade da doença antes e após o tratamento. Revelaram-se altas a prevalência de esquistossomose (66,3% e de formas graves (9,5% com baço palpável. A prevalência de indivíduos sem fibrose hepática e com fibrose teve, moderada e intensa ao ultra-som foi de 46,0%, 19,6%, 27,6% e 6,8%, respectivamente. Vinte um (39,6%: de 53 indivíduos com baço palpável não apresentavam fibrose periportal ao ultrasom. Linfonodos periportais foram identificados em 33,8% dos indivíduos examinados e anticorpos anti-KLH no soro de 40,7%,. Observaram-se alterações urinárias compatíveis com glomerulopatia esquistossamótica em 4,5% da população e 11,7% apresentavam achados dopplerecocardiográficos de hipertensão pulmonar. Doze meses após o tratamento da esquistossomose, a prevalência da doença reduziu-se de 66,3% para 25,0%. Em Queixadinha, um perfil da morbidade da doença e de sua evolução após o tratamento começa a ser delineado.

  19. Specific skin signs as a cutaneous marker of diabetes mellitus and the prediabetic state - a systematic review.

    Science.gov (United States)

    Bustan, Rewend Salman; Wasim, Daanyaal; Yderstræde, Knud Bonnet; Bygum, Anette

    2017-01-01

    Diabetes mellitus and the prediabetic state are associated with a number of skin manifestations. This study is a systematic review of the following manifestations: acanthosis nigricans (AN), skin tags (ST), diabetic dermopathy (DD), rubeosis faciei (RF), pruritus (PR), granuloma annulare (GA), necrobiosis lipoidica (NL), scleroedema diabeticorum (SD) and bullosis diabeticorum (BD). These conditions possibly relate to underlying diabetogenic mechanisms. Our aim was to determine whether skin signs are feasible as cutaneous markers for the prediabetic or diabetic state. Data were collected from the databases PubMed, Embase and Cochrane. Articles were excluded if the populations presented with comorbidities or received treatment with drugs affecting the skin. Also, animal studies, studies with poor methodology and pilot studies were excluded. Among the 34 included original articles, an association with diabetes was shown as follows: in eight articles with AN, five articles with ST, three articles with GA, two articles with NL, PR and SD respectively and in one article with RF. Three papers indirectly showed an association of DD with diabetes. Association between bullous skin lesions and diabetes was only documented by case reports and case series. The results indicate a benefit of diabetes screening in individuals presenting with AN, ST or BD. Further studies are required to enlighten a possible association with RF, GA, SD or NL. Until such studies are available, it is advisable to screen individuals with the skin lesions presented by measuring their glycated haemoglobin.

  20. Filament formation associated with spirochetal infection: a comparative approach to Morgellons disease.

    Science.gov (United States)

    Middelveen, Marianne J; Stricker, Raphael B

    2011-01-01

    Bovine digital dermatitis is an emerging infectious disease that causes lameness, decreased milk production, and weight loss in livestock. Proliferative stages of bovine digital dermatitis demonstrate keratin filament formation in skin above the hooves in affected animals. The multifactorial etiology of digital dermatitis is not well understood, but spirochetes and other coinfecting microorganisms have been implicated in the pathogenesis of this veterinary illness. Morgellons disease is an emerging human dermopathy characterized by the presence of filamentous fibers of undetermined composition, both in lesions and subdermally. While the etiology of Morgellons disease is unknown, there is serological and clinical evidence linking this phenomenon to Lyme borreliosis and coinfecting tick-borne agents. Although the microscopy of Morgellons filaments has been described in the medical literature, the structure and pathogenesis of these fibers is poorly understood. In contrast, most microscopy of digital dermatitis has focused on associated pathogens and histology rather than the morphology of late-stage filamentous fibers. Clinical, laboratory, and microscopic characteristics of these two diseases are compared.

  1. Filament formation associated with spirochetal infection: a comparative approach to Morgellons disease

    Directory of Open Access Journals (Sweden)

    Middelveen MJ

    2011-11-01

    Full Text Available Marianne J Middelveen, Raphael B StrickerInternational Lyme and Associated Diseases Society, Bethesda, MD, USAAbstract: Bovine digital dermatitis is an emerging infectious disease that causes lameness, decreased milk production, and weight loss in livestock. Proliferative stages of bovine digital dermatitis demonstrate keratin filament formation in skin above the hooves in affected animals. The multifactorial etiology of digital dermatitis is not well understood, but spirochetes and other coinfecting microorganisms have been implicated in the pathogenesis of this veterinary illness. Morgellons disease is an emerging human dermopathy characterized by the presence of filamentous fibers of undetermined composition, both in lesions and subdermally. While the etiology of Morgellons disease is unknown, there is serological and clinical evidence linking this phenomenon to Lyme borreliosis and coinfecting tick-borne agents. Although the microscopy of Morgellons filaments has been described in the medical literature, the structure and pathogenesis of these fibers is poorly understood. In contrast, most microscopy of digital dermatitis has focused on associated pathogens and histology rather than the morphology of late-stage filamentous fibers. Clinical, laboratory, and microscopic characteristics of these two diseases are compared.Keywords: Digital dermatitis, Morgellons disease, Lyme disease, Borrelia burgdorferi, spirochetes

  2. Cutaneous Manifestations of Diabetes Mellitus: A Review.

    Science.gov (United States)

    Lima, Ana Luiza; Illing, Tanja; Schliemann, Sibylle; Elsner, Peter

    2017-08-01

    Diabetes mellitus is a widespread endocrine disease with severe impact on health systems worldwide. Increased serum glucose causes damage to a wide range of cell types, including endothelial cells, neurons, and renal cells, but also keratinocytes and fibroblasts. Skin disorders can be found in about one third of all people with diabetes and frequently occur before the diagnosis, thus playing an important role in the initial recognition of underlying disease. Noninfectious as well as infectious diseases have been described as dermatologic manifestations of diabetes mellitus. Moreover, diabetic neuropathy and angiopathy may also affect the skin. Pruritus, necrobiosis lipoidica, scleredema adultorum of Buschke, and granuloma annulare are examples of frequent noninfectious skin diseases. Bacterial and fungal skin infections are more frequent in people with diabetes. Diabetic neuropathy and angiopathy are responsible for diabetic foot syndrome and diabetic dermopathy. Furthermore, antidiabetic therapies may provoke dermatologic adverse events. Treatment with insulin may evoke local reactions like lipohypertrophy, lipoatrophy and both instant and delayed type allergy. Erythema multiforme, leukocytoclastic vasculitis, drug eruptions, and photosensitivity have been described as adverse reactions to oral antidiabetics. The identification of lesions may be crucial for the first diagnosis and for proper therapy of diabetes.

  3. Prevalence of cutaneous manifestations of diabetes mellitus

    International Nuclear Information System (INIS)

    Ahmed, K.; Muhammad, Z.; Qayum, I.

    2009-01-01

    Diabetes mellitus (DM) is a clinical syndrome characterized by hyperglycaemia due to absolute or relative insulin deficiency. The aim of this study was to evaluate the frequency of skin manifestations in patients with diabetes mellitus of this area. This descriptive study was conducted in medical out patient door of District Headquarter Hospital Battgram from January 2008 to July 2008. A total of 350 diabetic (types 1 and 2) patients over 15 years of age attending the medical OPD of DHQ Hospital were examined in detail for skin manifestations of the disease. Three hundred and fifty diabetic (type-1 and type-2) patients (193 females and 157 males) enrolled in this study. Mean age of the patients was 54+-8.53 years. Duration of diabetes was between 1-12 years; 320 patients had type-2 and 30 patients had type-1 diabetes mellitus. Patients with uncontrolled disease were 327 and 23 patients showed adequate glycaemic control. Seventy-six percent of patients had cutaneous manifestations. The skin manifestations observed were: skin infections 30.9%, foot gangrene and ulcers 12.9%, pruritus 7.1%, vitiligo 5.7%, yellow skin 4.2%, diabetic dermopathy 4.2%, skin tags 3.7%, acanthosis nigricans 2.9%, eruptive xanthomas 2.6%, necrobiosis lipoidica diabeticorum 1.4%, diabetic bullae 0.6%, and pigmented purpuras in 0.3% patients. Cutaneous manifestations were quite Common in the diabetics of this area. (author)

  4. Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants

    International Nuclear Information System (INIS)

    Busch, Albert; Kiel, Tilman; Heupel, Wolfgang-M.; Wehnert, Manfred; Huebner, Stefan

    2009-01-01

    Lamins, which form the nuclear lamina, not only constitute an important determinant of nuclear architecture, but additionally play essential roles in many nuclear functions. Mutations in A-type lamins cause a wide range of human genetic disorders (laminopathies). The importance of lamin A (LaA) in the spatial arrangement of nuclear pore complexes (NPCs) prompted us to study the role of LaA mutants in nuclear protein transport. Two mutants, causing prenatal skin disease restrictive dermopathy (RD) and the premature aging disease Hutchinson Gilford progeria syndrome, were used for expression in HeLa cells to investigate their impact on the subcellular localization of NPC-associated proteins and nuclear protein import. Furthermore, dynamics of the LaA mutants within the nuclear lamina were studied. We observed affected localization of NPC-associated proteins, diminished lamina dynamics for both LaA mutants and reduced nuclear import of representative cargo molecules. Intriguingly, both LaA mutants displayed similar effects on nuclear morphology and functions, despite their differences in disease severity. Reduced nuclear protein import was also seen in RD fibroblasts and impaired lamina dynamics for the nucleoporin Nup153. Our data thus represent the first study of a direct link between LaA mutant expression and reduced nuclear protein import.

  5. History of Morgellons disease: from delusion to definition

    Directory of Open Access Journals (Sweden)

    Middelveen MJ

    2018-02-01

    Full Text Available Marianne J Middelveen,1 Melissa C Fesler,2 Raphael B Stricker2 1Atkins Veterinary Services, Calgary, AB, Canada; 2Union Square Medical Associates, San Francisco, CA, USA Abstract: Morgellons disease (MD is a skin condition characterized by the presence of multicolored filaments that lie under, are embedded in, or project from skin. Although the condition may have a longer history, disease matching the above description was first reported in the US in 2002. Since that time, the condition that we know as MD has become a polemic topic. Because individuals afflicted with the disease may have crawling or stinging sensations and sometimes believe they have an insect or parasite infestation, most medical practitioners consider MD a purely delusional disorder. Clinical studies supporting the hypothesis that MD is exclusively delusional in origin have considerable methodological flaws and often neglect the fact that mental disorders can result from underlying somatic illness. In contrast, rigorous experimental investigations show that this skin affliction results from a physiological response to the presence of an infectious agent. Recent studies from that point of view show an association between MD and spirochetal infection in humans, cattle, and dogs. These investigations have determined that the cutaneous filaments are not implanted textile fibers, but are composed of the cellular proteins keratin and collagen and result from overproduction of these filaments in response to spirochetal infection. Further studies of the genetics, pathogenesis, and treatment of MD are warranted. Keywords: Morgellons disease, dermopathy, Lyme disease, Borrelia burgdorferi, spirochetes

  6. Dermatological and musculoskeletal assessment of diabetic foot: A narrative review.

    Science.gov (United States)

    Arsanjani Shirazi, Azam; Nasiri, Morteza; Yazdanpanah, Leila

    2016-01-01

    Diabetic Foot Syndrome (DFS) is the most costly and devastating complication of diabetes mellitus (DM), which early effective assessment can reduce the severity of complications including ulceration and amputations. This study aimed to review dermatological and musculoskeletal assessment of diabetic foot. In this review article, we searched for articles published between March 1, 1980 and July 28, 2015 in PubMed, Science Direct, Embase, Web of Science, and Scopus, for both English and non-English language articles with the following keywords: "Diabetic foot syndrome", "Ulceration", "Amputation", "Foot assessment", "Skin disorders" and "Musculoskeletal deformities". In dermatological dimension, most studies focused on elucidated changes in skin temperature, color, hardiness and turgor as well as common skin disorders such as Diabetic Dermopathy (DD), Necrobiosis Lipoidica Diabeticorum (NLD) and Diabetic Bullae (DB), which are common in diabetic patients and have high potential for leading to limb-threatening problems such as ulceration and infection. In musculoskeletal dimension, most studies focused on range of motion and muscle strength, gait patterns and as well as foot deformities especially Charcot osteoarthropathy (COA), which is the most destructive musculoskeletal complication of diabetes. DFS as a common condition in DM patients lead to ulceration and lower limb amputation frequently unless a prompt and comprehensive assessment was taken. So that dermatological and musculoskeletal assessments are usually neglected in primary health care, these assessments should be done frequently to reduce the high risk of serious complications. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  7. Pathogenesis of Graves` disease and therapeutic implications; Pathogenese des Morbus Basedow und therapeutische Implikationen

    Energy Technology Data Exchange (ETDEWEB)

    Seif, F.J. [Tuebingen Univ. (Germany). Medizinische Klinik und Poliklinik

    1997-12-01

    Graves` disease presents itself clinically mainly as hyperthyroidism and infiltrative ophthalmopathy and to a minimal extent also as dermopathy and acropachy. Autoimmune processes are the basic pathogenesis. Stimulating antibodies against the TSH receptor cause hyperthyroidism. Autoantibodies and autoreactive T lymphocytes against primarily thyroidal antigens cross-react with similar antigens of the eye muscles and orbital connective tissue, thus spreading the disease from the thyroid to the eyes. The therapeutic goal comprises not only the treatment of hyperthyroidism, but also the induction of a steady immuntolerance in order to minimize the irreversible damage to the eye. The therapeutic armamentarium is formed by antithyroid drugs, glucocorticoids, retrobulbar radition and thyroid ablation, either by nearly total thyroidectomy or by radioiodine. The different indications for both ablative procedures are discussed. (orig.) [Deutsch] Der Morbus Basedow manifestiert sich klinisch hauptsaechlich als Hyperthyreose und infiltrative Orbitopathie, waehrend Demopathie und Akropathie selten sind. Der Krankheit liegt ein Autoimmunprozess zugrunde, wobei stimuliernde Autoantikoerper gegen den TSH-Rezeptor die Hyperthyreose hervorrufen. Autoantikoerper und T-Lymphozyten gegen primaer thyreoidale Antigene verursachen durch Kreuzreaktion mit aehnlichen Antigenen an den Augenmuskeln und orbitalem Bindegewebe die Orbitopathie. Das therapeutsiche Ziel besteht nicht nur in der Behandlung der Hyperthyreose, sondern vor allem in der Induktion einer immuntoleranten Remission, um die irreversiblen Schaeden am Auge zu minimieren. Die Therapie umfasst Thyreostatika, Glukokortikoide und Orbitaspitzenbestrahlung sowie eine Schilddruesenablation entweder durch fast totale Schilddruesenresektion oder durch Radiojodtherapie. Die Differentialindikationen fuer die beiden ablativen Massnahmen werden eroertert. (orig.)

  8. Realce Tardio miocárdico por Ressonância Magnética Cardíaca pode identificar risco para Taquicardia Ventricular na Cardiopatia Chagásica Crônica

    OpenAIRE

    Ronaldo Peixoto de Mello; Gilberto Szarf; Paulo Roberto Schvartzman; Edson Minoru Nakano; Mariano Martinez Espinosa; Denis Szejnfeld; Verônica Fernandes; João A. C. Lima; Claudio Cirenza; Angelo A.V. De Paola

    2012-01-01

    FUNDAMENTO: Testes invasivos e não invasivos têm sido usados para identificar risco para Taquicardia Ventricular (TV) em pacientes com Cardiopatia Chagásica Crônica (CCC). Ressonância Magnética Cardíaca (RMC) pela técnica do Realce Tardio (RT) pode ser útil para selecionar pacientes com disfunção ventricular global ou segmentar, com alto grau de fibrose e maior risco para TV clínica. OBJETIVO: Melhorar a identificação de elementos preditivos de TV em pacientes com CCC. MÉTODO: Quarenta e um p...

  9. Comorbidities in interstitial lung diseases

    Directory of Open Access Journals (Sweden)

    George A. Margaritopoulos

    2017-01-01

    Full Text Available Fibrosing lung disorders include a large number of diseases with diverse behaviour. Patients can die because of the progression of their illness, remain stable or even improve after appropriate treatment has been instituted. Comorbidities, such as acute and chronic infection, gastro-oesophageal reflux, pulmonary hypertension, lung cancer, cardiovascular diseases, and obstructive sleep apnoea, can pre-exist or develop at any time during the course of the disease and, if unidentified and untreated, may impair quality of life, impact upon the respiratory status of the patients, and ultimately lead to disease progression and death. Therefore, early identification and accurate treatment of comorbidities is essential.

  10. A molecular imaging approach to cystic fibrosis

    OpenAIRE

    Ferreira, Vera Filipa Cerqueira

    2013-01-01

    Tese de mestrado em Bioquímica, apresentada à Universidade de Lisboa, através da Faculdade de Ciências, 2013 A Fibrose Quística (FQ) é a doença autossómica recessiva letal mais comum na população caucasiana. É caracterizada por um mau funcionamento ao nível pulmonar, pancreático, gastrointestinal e reprodutivo, embora a principal causa de morbilidade e mortalidade se deva à progressiva disfunção pulmonar. A elevada concentração de electrólitos no suor constitui também uma das principais ca...

  11. Pulmonary arterial hypertension secondary to chronic thromboemboli

    International Nuclear Information System (INIS)

    Crysikopoulos, H.; Forrest, J.V.; Olson, L.K.; Roberts, A.C.

    1989-01-01

    The authors report their experience in 150 patients with pulmonary arterial hypertension secondary to chronic pulmonary embolism (CPE). Plain film findings are variable, commonly nonspecific. Occasionally nonuniformity of pulmonary perfusion or truncation of central pulmonary arteries suggest CPE. Multiple, large, unmatched perfusion defects are the most common scintigraphic observations. CT can exclude conditions mimicking CPE, particularly fibrosing mediastinitis. Pulmonary arteriography depicts the location and distribution of emboli. CPE is becoming an increasingly important entity to recognize because of available surgical treatment. Thromboendarterectomy may improve functional status and survival. The diagnosis should be considered in any patient with pulmonary arterial hypertension

  12. Estudo histológico do tecido conjuntivo areolar perifascial implantado em pregas vocais de coelhos

    OpenAIRE

    Adriana Hachiya

    2009-01-01

    Apesar do grande avanço da laringologia nas últimas décadas, o tratamento da rigidez da prega vocal continua sendo um desafio. A rigidez da prega vocal pode estar associada a alterações estruturais mínimas como no sulco vocal profundo ou decorrente da fibrose cicatricial como nos casos de cicatriz pós-operatória. Em ambos os casos, há perda dos elementos da matriz extracelular da camada superficial da lâmina própria (Espaço de Reinke) que se encontra substituída por tecido cicatricial. O obje...

  13. CT appearance of amiodarone-induced pneumonitis

    International Nuclear Information System (INIS)

    Nicholson, A.A.; Hayward, C.

    1989-01-01

    Basal peripheral pleuroparenchymal opacities are described on CT of early cryptogenic fibrosing alveolitis, asbestosis and bleomycin pneumonitis. These diseases may be caused by free radical effects on phospholipid metabolism causing cell wall damage. Amiodarone hydrochloride alters phospholipid synthesis metabolically. Amiodarone pneumonitis might be expected to show similar CT appearances. Sixteen patients who have developed new respiratory symptoms while taking amiodarone have been scanned prone and supine and at inspiration and expiration by means of a scanner with 2-mm sections at 1-cm intervals. All have been previously healthy nonsmokers with no relevant occupational history. Previous chest radiographs have been normal. Results are presented

  14. Eighty cases of nape muscular fasciae inflammation treated with puncture at Hégǔ(合谷LI 4) and Sānjiān(三间 LI 3)%针刺合谷、三间穴治疗项背肌筋膜炎80例

    Institute of Scientific and Technical Information of China (English)

    孙化斌; ZHANG Nan

    2010-01-01

    @@ Nape muscular fasciae inflammation refers to a chronic disease manifesting pain in soft tissues such as fascia and muscle on nape caused by aseptic inflammation, and it is named as "dorsal muscles fibrositis" as well.It is characterized as pain, stiffness and motor limitation in back and nape, involving trapezius, rhomboids and levator scapulae due to coldness, moist, chronic injury and incorrect positions.The author has treated 80 cases of nape muscular fasciae inflammation by puncturing at Hégǔ(合谷LI4)and Sānjiān(三间LI 3), and it is reported as follows.

  15. Epithelial-mesenchymal transition: An emerging target in tissue fibrosis

    Science.gov (United States)

    Li, Meirong; Luan, Fuxin; Zhao, Yali; Hao, Haojie; Zhou, Yong; Han, Weidong

    2016-01-01

    Epithelial-mesenchymal transition (EMT) is involved in a variety of tissue fibroses. Fibroblasts/myofibroblasts derived from epithelial cells contribute to the excessive accumulation of fibrous connective tissue in damaged tissue, which can lead to permanent scarring or organ malfunction. Therefore, EMT-related fibrosis cannot be neglected. This review highlights the findings that demonstrate the EMT to be a direct contributor to the fibroblast/myofibroblast population in the development of tissue fibrosis and helps to elucidate EMT-related anti-fibrotic strategies, which may enable the development of therapeutic interventions to suppress EMT and potentially reverse organ fibrosis. PMID:26361988

  16. Systemic involvement in localized scleroderma/morphea.

    Science.gov (United States)

    Gorkiewicz-Petkow, Anna; Kalinska-Bienias, Agnieszka

    2015-01-01

    Localized scleroderma (LoSc), also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. In some cases, systemic manifestation with visceral abnormalities may occur. Several publications have focused on significant aspects of LoSc: genetics, immunity, epidemiology, scoring systems, and unification of classifications. Clinical studies featuring large cohorts with the disease published by various international study groups have been of great value in furthering the diagnostic and therapeutic management of LoSc. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Update on diagnosis and treatment of idiopathic pulmonary fibrosis

    Science.gov (United States)

    Baddini-Martinez, José; Baldi, Bruno Guedes; da Costa, Cláudia Henrique; Jezler, Sérgio; Lima, Mariana Silva; Rufino, Rogério

    2015-01-01

    Idiopathic pulmonary fibrosis is a type of chronic fibrosing interstitial pneumonia, of unknown etiology, which is associated with a progressive decrease in pulmonary function and with high mortality rates. Interest in and knowledge of this disorder have grown substantially in recent years. In this review article, we broadly discuss distinct aspects related to the diagnosis and treatment of idiopathic pulmonary fibrosis. We list the current diagnostic criteria and describe the therapeutic approaches currently available, symptomatic treatments, the action of new drugs that are effective in slowing the decline in pulmonary function, and indications for lung transplantation. PMID:26578138

  18. [Nonspecific interstitial pneumonitis: a clinicopathologic entity, histologic pattern or unclassified group of heterogeneous interstitial pneumonitis?].

    Science.gov (United States)

    Morais, António; Moura, M Conceição Souto; Cruz, M Rosa; Gomes, Isabel

    2004-01-01

    Nonspecific interstitial pneumonitis (NSIP) initially described by Katzenstein and Fiorelli in 1994, seems to be a distinct clinicopathologic entity among idiopathic interstitial pneumonitis (IIP). Besides different histologic features from other IIP, NSIP is characterized by a better long-term outcome, associated with a better steroids responsiveness than idiopathic pulmonar fibrosis (IPF), where usually were included. Thus, differentiating NSIP from other IIP, namely IPF is very significant, since it has important therapeutic and prognostic implications. NSIP encloses different pathologies, namely those with inflammatory predominance (cellular subtype) or fibrous predominance (fibrosing subtype). NSIP is reviewed and discussed by the authors, after two clinical cases description.

  19. PATHOMORPHOLOGICAL FEATURES OF BONE LESIONS AND CORRELATION OF CLINICAL, LABORATORY AND MORPHOMETRIC CRITERIA IN PATIENTS WITH LATENT SCLEROSING HEMATOGENOUS OSTEOMYELITIS (GARRÉ

    Directory of Open Access Journals (Sweden)

    V. V. Grigorovsky

    2018-01-01

    Full Text Available Introduction. Sclerosing hematogenous osteomyelitis of Garré (SHO holds a significant place among cases of latent hematogenous osteomyelitis. Pathomorphological studies of sclerosing hematogenous osteomyelitis are needed to improve differentiated diagnostics, to prognosticate morphology specifics of nidus and to choose the optimal treatment tactics.Purpose of the study — to identify statistical differences between manifestation patterns of various disease types and correlation between clinical, laboratorial and morphometric criteria of bone lesions in patients with sclerosing hematogenous osteomyelitis.Material and methods. The authors studied tissue fragments of affected bones of 25 patients with SHO which was diagnosed by clinical, laboratorial, visualizing and morphological methods. Gradation morphometric criteria were used to reflect condition of nidus tissues. The authors made the analysis of qualitative characters and correlation analysis of dependencies between clinical and laboratorial criteria on the one hand, and with morphometric criteria — on the other, and identified association factor. Results. Pathomorphological study of SHO nidus demonstrated variances of bone lesions in separate disease cases despite the overall similarity of morphological manifestation. About 2/3 of all cases correspond to fibrosing type whereby even small exudative inflammation sites are absent. In about 1/3 of all cases apart from fibrosis, osteosclerosis and remodeling, the osteomyelitis niduses contain microabscesses indicative of suppurative inflammation as well as the authors observed small sequestration. The maximum differences in patients with various types of SHO were identified in such parameters as share of stab microphages and erythrocyte sedimentation rate (ESR. In cases of long term morbidity the fibrosing disease type is prevailing, in cases of short term lesion (1–2 years — a fibrosing type with microabscesses formation.A series of

  20. Update on diagnosis and treatment of idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    José Baddini-Martinez

    2015-10-01

    Full Text Available Idiopathic pulmonary fibrosis is a type of chronic fibrosing interstitial pneumonia, of unknown etiology, which is associated with a progressive decrease in pulmonary function and with high mortality rates. Interest in and knowledge of this disorder have grown substantially in recent years. In this review article, we broadly discuss distinct aspects related to the diagnosis and treatment of idiopathic pulmonary fibrosis. We list the current diagnostic criteria and describe the therapeutic approaches currently available, symptomatic treatments, the action of new drugs that are effective in slowing the decline in pulmonary function, and indications for lung transplantation.

  1. Idiopathic pulmonary fibrosis in a Staffordshire bull terrier with hypothyroidism.

    Science.gov (United States)

    Corcoran, B M; Dukes-McEwan, J; Rhind, S; French, A

    1999-04-01

    Radiographic evidence of chronic interstitial lung changes, usually believed to be attributable to lung fibrosis, is readily recognised in canine practice. Furthermore, there is a body of anecdotal evidence suggesting that a specific clinical entity consistent with chronic lung fibrosis occurs in specific breeds of terrier dogs. However, there is little pathological data to confirm these radiographic and clinical findings and, therefore, chronic interstitial lung disease of dogs is poorly characterised. In this report, a case of chronic pulmonary fibrosis is described in which histopathological confirmation was possible, and suggested that the condition might be analogous to idiopathic pulmonary fibrosis (cryptogenic fibrosing alveolitis) in humans.

  2. Fibromyalgia syndrome: definition and diagnostic aspects

    Directory of Open Access Journals (Sweden)

    A. Alciati

    2011-09-01

    Full Text Available Although the term “fibromyalgia” (FM is relatively new, the condition characterised by chronic musculoskeletal pain that is accompanied by numerous extra-skeletal symptoms has been described in the medical literature for many years under different names. The term “fibrositis,” which was originally used in 1904 by Sir William Gowers to define a type of lumbalgia, became a synonym for diffuse musculoskeletal pain until 1976 (1. In the mid-1970s, Smythe and Moldofsky used the term “fibrositic syndrome” to describe the presence of tender points (TPs, sleep disturbances and other accompanying symptoms such as asthenia...

  3. Morphea: Evidence-based recommendations for treatment

    Directory of Open Access Journals (Sweden)

    Nicole M Fett

    2012-01-01

    Full Text Available Morphea is a rare fibrosing disorder of the skin. Evidence-based treatment strategies in morphea are lacking. This review summarizes the available data on morphea treatment and provides therapeutic strategies based on morphea subtypes. The Cochrane Library, Medline and Embase from inception until May of 2011 were searched using the key words "morphea" and "morphea treatment." Reference lists of the resultant articles, as well as relevant reviews, were also searched. This review focuses on randomized controlled trials, prospective interventional trials without controls and retrospective reviews with greater than five subjects.

  4. Chronic hypersensitivity pneumonitis.

    Science.gov (United States)

    Pereira, Carlos Ac; Gimenez, Andréa; Kuranishi, Lilian; Storrer, Karin

    2016-01-01

    Hypersensitivity pneumonitis (HSP) is a common interstitial lung disease resulting from inhalation of a large variety of antigens by susceptible individuals. The disease is best classified as acute and chronic. Chronic HSP can be fibrosing or not. Fibrotic HSP has a large differential diagnosis and has a worse prognosis. The most common etiologies for HSP are reviewed. Diagnostic criteria are proposed for both chronic forms based on exposure, lung auscultation, lung function tests, HRCT findings, bronchoalveolar lavage, and biopsies. Treatment options are limited, but lung transplantation results in greater survival in comparison to idiopathic pulmonary fibrosis. Randomized trials with new antifibrotic agents are necessary.

  5. The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

    OpenAIRE

    Seixas, Sandra Lopes; Lagrota-Cândido, Jussara; Savino, Wilson; Quirico-Santos, Thereza

    1997-01-01

    O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1) e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nest...

  6. Metrizamide in experimental selective renal angiography

    International Nuclear Information System (INIS)

    Pokorny, L.; Kelemen, J.

    1981-01-01

    Forty-seven dogs or seventy-four kidneys, respectively, were used in studies into the activity of metrizamide (Amipaque). The angiograms were of good quality; as compared with contrast media tested before, the incidence of abnormalities was somewhat lower, and the symptoms (spasm, inhomogeneous nephrogram) were less important. Histological examination showed that plenty of homogeneous pink proteinlike substance had accumulated in many tubules as well as in the lumen of the Bowman's capsules; fibroses were seen in several parts after 7 and 28 days, respectively. However, the evaluation of the renal function showed no considerable changes in the laboratory values. (orig.) [de

  7. Chronic kidney disease in lithium-treated older adults: a review of epidemiology, mechanisms, and implications for the treatment of late-life mood disorders.

    Science.gov (United States)

    Rej, Soham; Elie, Dominique; Mucsi, Istvan; Looper, Karl J; Segal, Marilyn

    2015-01-01

    Lithium is an important medication in the treatment of mood disorders. However, clinicians are hesitant to use lithium in older adults for fear of its medical effects, particularly kidney disease. This review describes the current understanding of the epidemiology and mechanisms underlying chronic kidney disease (CKD) in older lithium users, with recommendations for using lithium safely in late life. Prevalence estimates of CKD in older lithium users range from 42-50%, which does not differ greatly from the 37.8% rates seen in community-dwelling non-lithium using, non-psychiatric populations. Clinical and pre-clinical data suggest a variety of synergistic mechanisms contributing to CKD in older lithium users, including aging, cardiovascular factors, oxidative stress, inflammation, nephrogenic diabetes insipidus, acute kidney injury, and medication interactions. With regards to CKD, lithium can be used safely in many older adults with mood disorders. Compared to patients with pre-existing CKD, those with an estimated glomerular filtration rate >60 mL/min/1.73 m(2) are probably not as susceptible to lithium-associated renal decline. Using lithium concentrations kidney injury, nephrogenic diabetes insipidus, diabetes mellitus, hypertension, smoking, and coronary artery disease can all help prevent CKD and further renal decline in older lithium users.

  8. Renal blood flow and oxygenation drive nephron progenitor differentiation.

    Science.gov (United States)

    Rymer, Christopher; Paredes, Jose; Halt, Kimmo; Schaefer, Caitlin; Wiersch, John; Zhang, Guangfeng; Potoka, Douglas; Vainio, Seppo; Gittes, George K; Bates, Carlton M; Sims-Lucas, Sunder

    2014-08-01

    During kidney development, the vasculature develops via both angiogenesis (branching from major vessels) and vasculogenesis (de novo vessel formation). The formation and perfusion of renal blood vessels are vastly understudied. In the present study, we investigated the regulatory role of renal blood flow and O2 concentration on nephron progenitor differentiation during ontogeny. To elucidate the presence of blood flow, ultrasound-guided intracardiac microinjection was performed, and FITC-tagged tomato lectin was perfused through the embryo. Kidneys were costained for the vasculature, ureteric epithelium, nephron progenitors, and nephron structures. We also analyzed nephron differentiation in normoxia compared with hypoxia. At embryonic day 13.5 (E13.5), the major vascular branches were perfused; however, smaller-caliber peripheral vessels remained unperfused. By E15.5, peripheral vessels started to be perfused as well as glomeruli. While the interior kidney vessels were perfused, the peripheral vessels (nephrogenic zone) remained unperfused. Directly adjacent and internal to the nephrogenic zone, we found differentiated nephron structures surrounded and infiltrated by perfused vessels. Furthermore, we determined that at low O2 concentration, little nephron progenitor differentiation was observed; at higher O2 concentrations, more differentiation of the nephron progenitors was induced. The formation of the developing renal vessels occurs before the onset of blood flow. Furthermore, renal blood flow and oxygenation are critical for nephron progenitor differentiation. Copyright © 2014 the American Physiological Society.

  9. Diabetes insipidus: celebrating a century of vasopressin therapy.

    Science.gov (United States)

    Qureshi, Sana; Galiveeti, Sneha; Bichet, Daniel G; Roth, Jesse

    2014-12-01

    Diabetes mellitus, widely known to the ancients for polyuria and glycosuria, budded off diabetes insipidus (DI) about 200 years ago, based on the glucose-free polyuria that characterized a subset of patients. In the late 19th century, clinicians identified the posterior pituitary as the site of pathology, and pharmacologists found multiple bioactivities there. Early in the 20th century, the amelioration of the polyuria with extracts of the posterior pituitary inaugurated a new era in therapy and advanced the hypothesis that DI was due to a hormone deficiency. Decades later, a subset of patients with polyuria unresponsive to therapy were recognized, leading to the distinction between central DI and nephrogenic DI, an early example of a hormone-resistant condition. Recognition that the posterior pituitary had 2 hormones was followed by du Vigneaud's Nobel Prize winning isolation, sequencing, and chemical synthesis of oxytocin and vasopressin. The pure hormones accelerated the development of bioassays and immunoassays that confirmed the hormone deficiency in vasopressin-sensitive DI and abundant levels of hormone in patients with the nephrogenic disorder. With both forms of the disease, acquired and inborn defects were recognized. Emerging concepts of receptors and of genetic analysis led to the recognition of patients with mutations in the genes for 1) arginine vasopressin (AVP), 2) the AVP receptor 2 (AVPR2), and 3) the aquaporin 2 water channel (AQP2). We recount here the multiple skeins of clinical and laboratory research that intersected frequently over the centuries since the first recognition of DI.

  10. Protein-energy malnutrition during early gestation in sheep blunts fetal renal vascular and nephron development and compromises adult renal function.

    Science.gov (United States)

    Lloyd, Louise J; Foster, Thomas; Rhodes, Phillip; Rhind, Stewart M; Gardner, David S

    2012-01-15

    A nutritionally poor maternal diet can reduce nephron endowment and pre-empt premature expression of markers for chronic renal disease in the offspring. A mechanistic pathway from variation in maternal diet through altered fetal renal development to compromised adult kidney structure and function with adult-onset obesity has not been described. We show that maternal protein-energy malnutrition in sheep blunts nephrogenic potential in the 0.44 gestation (65 days gestation, term ∼147 days) fetus by increasing apoptosis and decreasing angiogenesis in the nephrogenic zone, effects that were more marked in male fetuses. As adults, the low-protein-exposed sheep had reduced glomerular number and microvascular rarefaction in their kidneys compensated for, respectively, by glomerular hypertrophy and increased angiogenic support. In this study, the long-term mild anatomical deficits in the kidney would have remained asymptomatic in the lean state, but when superimposed on the broad metabolic challenge that obesity represents then microalbuminuria and blunted bilateral renal function revealed a long-term physiological compromise, that is only predicted to worsen with age. In conclusion, maternal protein-energy malnutrition specifically impacts fetal kidney vascular development and prevents full functionality of the adult kidney being achieved; these residual deficits are predicted to significantly increase the expected incidence of chronic kidney disease in prenatally undernourished individuals especially when coupled with a Western obesogenic environment.

  11. Clear Cell Adenocarcinoma of the Urethra: Review of the Literature

    Directory of Open Access Journals (Sweden)

    Anthony Kodzo-Grey Venyo

    2015-01-01

    Full Text Available Background. Clear cell adenocarcinoma of the urethra (CCAU is extremely rare and a number of clinicians may be unfamiliar with its diagnosis and biological behaviour. Aims. To review the literature on CCAU. Methods. Various internet databases were used. Results/Literature Review. (i CCAU occurs in adults and in women in the great majority of cases. (ii It has a particular association with urethral diverticulum, which has been present in 56% of the patients; is indistinguishable from clear cell adenocarcinoma of the female genital tract but is not associated with endometriosis; and probably does not arise by malignant transformation of nephrogenic adenoma. (iii It is usually, readily distinguished from nephrogenic adenoma because of greater cytological a-typicality and mitotic activity and does not stain for prostate-specific antigen or prostatic acid phosphatase. (iv It has been treated by anterior exenteration in women and cystoprostatectomy in men and at times by radiotherapy; chemotherapy has rarely been given. (v CCAU is aggressive with low 5-year survival rates. (vi There is no consensus opinion of treatment options that would improve the prognosis. Conclusions. Few cases of CCAU have been reported. Urologists, gynaecologists, pathologists, and oncologists should report cases of CCAU they encounter and enter them into a multicentric trial to determine the best treatment options that would improve the prognosis.

  12. Bartter's Syndrome with Type 2 Diabetes Mellitus

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    Ting-Ting See

    2009-02-01

    Full Text Available We report a rare case of Bartter's syndrome in a 35-year-old woman with type 2 diabetes mellitus. The patient presented with leg weakness, fatigue, polyuria and polydipsia. Hypokalemia, metabolic alkalosis, and high renin and aldosterone concentrations were present, but the patient was normotensive. Gitelman's syndrome was excluded because of the presence of hypercalciuria, secondary hyperparathyroidism and bilateral nephrocalcinosis. The patient's condition improved upon administration of a prostaglandin synthetase inhibitor (acemetacin, oral potassium chloride and potassium-sparing diuretics. Five months later, the patient discontinued acemetacin because of epigastric discomfort; at the same time, severe hypokalemia and hyperglycemia developed. Glucagon stimulation and water deprivation tests were performed. Type 2 diabetes mellitus with nephrogenic diabetes insipidus was diagnosed. To avoid further gastrointestinal complications, the patient was treated with celecoxib, a selective cyclooxygenase 2 inhibitor. This case serves as a reminder that Bartter's syndrome is associated with various metabolic derangements including nephrogenic diabetes insipidus, nephrocalcinosis and diabetes mellitus. When treating Bartter's syndrome, it is also prudent to remember that the long-term use of nonsteroidal anti-inflammatory drugs and potassium-sparing diuretics may result in serious adverse reactions.

  13. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.

    Science.gov (United States)

    Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S

    2011-11-01

    Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  14. The renal concentrating mechanism and the clinical consequences of its loss

    Science.gov (United States)

    Agaba, Emmanuel I.; Rohrscheib, Mark; Tzamaloukas, Antonios H.

    2012-01-01

    The integrity of the renal concentrating mechanism is maintained by the anatomical and functional arrangements of the renal transport mechanisms for solute (sodium, potassium, urea, etc) and water and by the function of the regulatory hormone for renal concentration, vasopressin. The discovery of aquaporins (water channels) in the cell membranes of the renal tubular epithelial cells has elucidated the mechanisms of renal actions of vasopressin. Loss of the concentrating mechanism results in uncontrolled polyuria with low urine osmolality and, if the patient is unable to consume (appropriately) large volumes of water, hypernatremia with dire neurological consequences. Loss of concentrating mechanism can be the consequence of defective secretion of vasopressin from the posterior pituitary gland (congenital or acquired central diabetes insipidus) or poor response of the target organ to vasopressin (congenital or nephrogenic diabetes insipidus). The differentiation between the three major states producing polyuria with low urine osmolality (central diabetes insipidus, nephrogenic diabetes insipidus and primary polydipsia) is done by a standardized water deprivation test. Proper diagnosis is essential for the management, which differs between these three conditions. PMID:23293407

  15. Renal dysplasia in a Limousin calf Displasia renal em um bezerro Limousin

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    M.B. Castro

    2007-04-01

    Full Text Available Descreve-se um caso de displasia renal em um bezerro Limousin, macho, de quatro meses. O animal apresentava perda de peso, baixa taxa de crescimento, anorexia, apatia, diarréia escura fétida e uremia, sem melhora apesar de tratamento. O bezerro foi sacrificado para interromper o sofrimento adicional e submetido à necropsia. Ao exame foi observado que os rins estavam pequenos, firmes, pálidos e com superfície rugosa. A cápsula estava aderida à uma superfície subcapsular irregular. O córtex tinha aparência difusamente pálida e fibrosa e apresentava múltiplos focos brancos de fibrose. A junção córtico-medular estava indistinta. O exame histologico dos rins revelou múltiplos glomérulos imaturos com núcleo periférico, capilares inaparentes e padrão arbóreo. O córtex renal apresentou túbulos primitivos com epitélio cubóide ou cilíndrico envolvido por mesênquima corado somente pelo alcian blue e não pelo tricrômico de Masson. Foi também observada leve fibrose intersticial na medula renal. Os rins mostravam estruturas em estágio inapropriado de desenvolvimento ou anômalas.

  16. IL18 and IL18R1 polymorphisms, lung CT and fibrosis: a longitudinal study in coal miners

    Energy Technology Data Exchange (ETDEWEB)

    Nadif, R.; Mintz, M.; Marzec, J.; Jedlicka, A.; Kauffmann, F.; Kleeberger, S.R. [INSERM, U780, Villejuif (France)

    2006-12-15

    It has been suggested that interleukin (IL)-18 plays a role in the development of inflammatory and fibrosing lung diseases. Associations of polymorphisms in the genes coding for IL-18 (108 /G-656T, C-607A, G-137C, T113G, C127T) and its receptor (IL8R1/C-69T) with coal workers' pneumoconiosis (CWP) were studied in 200 miners who were examined in 1990, 1994 and 1999. Coal-dust exposure was assessed according to job history and ambient measures. The main health outcome was lung computed tomography (CT) score in 1990. Internal coherence was assessed by studying CT score in 1994, 4-yr change in CT score and CWP incidence and prevalence. CT score in 1990 was a good predictor of radiographic grade in 1999 and, therefore, an appropriate subclinical quantitative trait. The IL18 -137C allele was associated with lower CT score in 1990 and 1994 (11.24 versus 1.69 and 1.57 versus 2.46, respectively), slower progression of CT score between 1990 and 1994 and lower pneumoconiosis prevalence in 1999 relative to the G allele (0.33 versus 0.77 and 8.2 versus 19.6%, respectively). Smoking- or dust-adjustment, and stratification on IL18R1 genotype and adjustment for haplotype effects did not change the conclusions. In conclusion, the results of the present study suggest a role for IL18 in reducing the development of this fibrosing lung disease.

  17. The genetic basis of strain-dependent differences in the early phase of radiation injury in mouse lung

    International Nuclear Information System (INIS)

    Franko, A.J.; Sharplin, J.; Ward, W.F.; Hinz, J.M.

    1991-01-01

    Substantial differences between mouse strains have been reported in the lesions present in the lung during the early phase of radiation injury. Some strains show only classical pneumonitis, while other strains develop substantial fibrosis and hyaline membranes which contribute appreciably to respiratory insufficiency, in addition to pneumonitis. Other strains are intermediate between these extremes. These differences correlate with intrinsic differences in activities of lung plasminogen activator and angiotensin converting enzyme. The genetic basis of these differences was assessed by examining histologically the early reaction in lungs of seven murine hybrids available commercially after whole-thorax irradiation. Crosses between fibrosing and nonfibrosing parents were uniformly nonfibrosing, and crosses between fibrosing and intermediate parents were uniformly intermediate. No evidence of sex linkage was seen. Thus the phenotype in which fibrosis is found is controlled by autosomal recessive determinants. Strains prone to radiation-induced pulmonary fibrosis and hyaline membranes exhibited intrinsically lower activities of lung plasminogen activator and angiotensin converting enzyme than either the nonfibrosing strains or the nonfibrosing hybrid crosses. The median time of death of the hybrids was genetically determined primarily by the longest-lived parent regardless of the types of lesions expressed

  18. Estudo comparativo das reações teciduais à implantação de silicone e politetrafluoroetileno no dorso de ratos

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    Kafejian Andréa Paula

    1997-01-01

    Full Text Available A importância das biopróteses na medicina abrange diversas áreas cirúrgicas. Com o objetivo de comparar a reação tecidual do implante de silicone, um dos mais utilizados, com o implante de politetrafluoroetileno expandido (PTFE-E, de uso mais recente, nos propusemos a realizar este estudo. Foram utilizados trinta ratos (Rattus norvegicus albinus machos, distribuídos em três grupos iguais, com implantes de fragmentos discóides dos materiais citados, no dorso de cada rato. Os grupos diferiram entre si quanto ao período de eutanásia: três, sete e trinta dias. Com base no modelo experimental e utilizando metodologia morfométrica, do ponto de vista histológico não houve reação inflamatória aguda importante que se pudesse correlacionar aos materiais de implantes. A proliferação vascular e a presença de fibrose foram prolongadas em relação à cicatrização normal. A irregularidade do PTFE-E, provavelmente relaciona-se à maior quantidade de vasos e de fibrose tardia constatada neste material, quando comparado ao implante de silicone.

  19. Clinical effects of non-ablative and ablative fractional lasers on various hair disorders: a case series of 17 patients.

    Science.gov (United States)

    Cho, Suhyun; Choi, Min Ju; Zheng, Zhenlong; Goo, Boncheol; Kim, Do-Young; Cho, Sung Bin

    2013-04-01

    Both ablative and non-ablative fractional lasers have been applied to various uncommon hair disorders. The purpose of this study was to demonstrate the clinical effects of fractional laser therapy on the course of primary follicular and perifollicular pathologies and subsequent hair regrowth. A retrospective review of 17 patients with uncommon hair disorders - including ophiasis, autosomal recessive woolly hair/hypotrichosis, various secondary cicatricial alopecias, pubic hypotrichosis, frontal fibrosing alopecia, and perifolliculitis abscedens et suffodiens - was conducted. All patients had been treated with non-ablative and/or ablative fractional laser therapies. The mean clinical improvement score in these 17 patients was 2.2, while the mean patient satisfaction score was 2.5. Of the 17 subjects, 12 (70.6%) demonstrated a clinical response to non-ablative and/or ablative fractional laser treatments, including individuals with ophiasis, autosomal recessive woolly hair/hypotrichosis, secondary cicatricial alopecia (scleroderma and pressure-induced alopecia), frontal fibrosing alopecia, and perifolliculitis abscedens et suffodiens. Conversely, patients with long-standing ophiasis, surgical scar-induced secondary cicatricial alopecia, and pubic hypotrichosis did not respond to fractional laser therapy. Our findings demonstrate that the use of non-ablative and/or ablative fractional lasers promoted hair growth in certain cases of uncommon hair disorders without any remarkable side effects.

  20. Fibred confocal fluorescence microscopy in the diagnosis of interstitial lung diseases.

    Science.gov (United States)

    Meng, Peng; Tan, Gan Liang; Low, Su Ying; Takano, Angela; Ng, Yuen Li; Anantham, Devanand

    2016-12-01

    Accurate diagnosis is critical to both therapeutic decisions and prognostication in interstitial lung diseases (ILD). However, surgical lung biopsies carry high complication rates. Fibred confocal fluorescence microscopy (FCFM) offers an alternative as it can visualize lung tissue in vivo at the cellular level with minimal adverse events. We wanted to investigate the diagnostic utility, and safety of using FCFM for patients with ILD. In patients with suspected ILD, FCFM images were obtained from multiple bronchopulmonary segments using a miniprobe inserted through the working channel of a flexible bronchoscope. The procedure was performed under moderate sedation in an outpatient setting. Morphometric measurements and fibre pattern analyses were co-related with computed tomography (CT) findings and patients' final diagnoses based on multi-disciplinary consensus. One hundred and eighty four segments were imaged in 27 patients (18 males) with a median age of 67 years (range, 24-79 years). They were grouped into chronic fibrosing interstitial pneumonia (16 patients) and other ILDs. Six distinct FCFM patterns were observed: normal, increased fibres, densely packed fibres, hypercellular, thickened fibres and others/non-specific. The pattern resembling densely packed fibres was seen in at least one segment in 68.8% patients with chronic fibrosing interstitial pneumonia, but only 36.4% in other ILD (P=0.097). An association between inflammatory patterns on CT and a hypercellular pattern on FCFM was also found (P<0.001). Our study shows the potential of FCFM in classifying ILD, but its role in further diagnosis remains limited.

  1. Aspergilose broncopulmonar alérgica com imagem radiológica em "dedo de luva" Allergic bronchopulmonary aspergillosis presenting a glove-finger shadow in radiographic images

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    Marta Elizabeth Kalil

    2006-10-01

    Full Text Available A aspergilose broncopulmonar alérgica é uma doença pulmonar que ocorre em pacientes com asma ou fibrose cística, desencadeada pela reação de hipersensibilidade à presença do fungo Aspergilus fumigatus nas vias aéreas. Relatamos aqui um caso em que uma paciente com quadro clínico sugestivo de asma apresentou critérios clínicos, laboratoriais e radiológicos compatíveis com o diagnóstico de aspergilose broncopulmonar alérgica. A importância de tais achados deve-se ao fato de que quanto mais precocemente for feito o diagnóstico, menores serão os riscos de agravamento do quadro respiratório e de aparecimento de fibrose.Allergic bronchopulmonary aspergillosis is a lung disease occurring in patients with asthma or cystic fibrosis, triggered by a hypersensitivity reaction to the presence of Aspergillus fumigatus in the airways. We report herein the case of a patient presenting a clinical profile suggestive of asthma and meeting the clinical, laboratory testing and radiological criteria for a diagnosis of allergic bronchopulmonary aspergillosis. The importance of such findings is that early diagnosis can reduce the risk of respiratory exacerbations and fibrosis.

  2. Microencapsulation of Lefty-secreting engineered cells for pulmonary fibrosis therapy in mice.

    Science.gov (United States)

    Ma, Hongge; Qiao, Shupei; Wang, Zeli; Geng, Shuai; Zhao, Yufang; Hou, Xiaolu; Tian, Weiming; Chen, Xiongbiao; Yao, Lifen

    2017-05-01

    Idiopathic pulmonary fibrosis (IPF) is a progressive disease that causes unremitting deposition of extracellular matrix proteins, thus resulting in distortion of the pulmonary architecture and impaired gas exchange. Associated with high morbidity and mortality, IPF is generally refractory to current pharmacological therapies. Lefty A, a potent inhibitor of transforming growth factor-β signaling, has been shown to have promising antifibrotic ability in vitro for the treatment of renal fibrosis and other potential organ fibroses. Here, we determined whether Lefty A can attenuate bleomycin (BLM)-induced pulmonary fibrosis in vivo based on a novel therapeutic strategy where human embryonic kidney 293 (HEK293) cells are genetically engineered with the Lefty A-associated GFP gene. The engineered HEK293 cells were encapsulated in alginate microcapsules and then subcutaneously implanted in ICR mice that had 1 wk earlier been intratracheally administered BLM to induce pulmonary fibrosis. The severity of fibrosis in lung tissue was assessed using pathological morphology and collagen expression to examine the effect of Lefty A released from the microencapsulated cells. The engineered HEK293 cells with Lefty A significantly reduced the expression of connective tissue growth factor and collagen type I mRNA, lessened the morphological fibrotic effects induced by BLM, and increased the expression of matrix metalloproteinase-9. This illustrates that engineered HEK293 cells with Lefty A can attenuate pulmonary fibrosis in vivo, thus providing a novel method to treat human pulmonary fibrotic disease and other organ fibroses. Copyright © 2017 the American Physiological Society.

  3. Ultrasound and magnetic resonance imaging findings in Schistosomiasis mansoni: expanded gallbladder fossa and fatty hilum signs Achados da ultrassonografia e da ressonância magnética na esquistossomose mansônica: sinais da expansão da fossa da vesícula e do hilo gorduroso

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    Luciana Cristina dos Santos Silva

    2012-08-01

    esquistossomose mansônica. Todos apresentavam US indicativa de fibrose hepática esquistossomótica, e foram avaliados com imagens por RM, realizadas com uma unidade magnética supercondutora de 1,5-T(Sigma. RESULTADOS: Quarenta e sete (87% entre 54 pacientes com sinais ultrassonográficosde fibrose periportal esquistossomótica tiveram este diagnóstico confirmado pela RM. Nos sete(13% casos discordantes, a RM revelou tecido adiposo preenchendo o espaço periportal hilaronde a US indicava espessamento isolado da parede da veia porta em seu ponto de entrada no fígado. Este achado foi nomeado sinal do hilo gorduroso. Um dos 47 pacientes com evidência de fibrose periportal RM era colecistectomizado. Trinta e quatro (76,1% dos 46 pacientes restantes apresentavam expansão da fossa da vesícula, que se encontrava preenchida portecido adiposo. Nos outros sete, a RM revelou sinais de fibrose pericolecística. CONCLUSÕES: Os espessamentos ecogênicos central da parede da veia porta, e da parede da vesícula biliar, até o momento, atribuídos à fibrose, foram frequentemente identificados como tecido adiposopela RM. Entretanto, o espessamento da parede da vesícula identificado pela US (expansão da fossa da vesícula na RM é provavelmente secundário a alterações morfológicas hepáticas na esquistossomose, e representa comprometimento grave do fígado.

  4. Exploring the association between Morgellons disease and Lyme disease: identification of Borrelia burgdorferi in Morgellons disease patients.

    Science.gov (United States)

    Middelveen, Marianne J; Bandoski, Cheryl; Burke, Jennie; Sapi, Eva; Filush, Katherine R; Wang, Yean; Franco, Agustin; Mayne, Peter J; Stricker, Raphael B

    2015-02-12

    Morgellons disease (MD) is a complex skin disorder characterized by ulcerating lesions that have protruding or embedded filaments. Many clinicians refer to this condition as delusional parasitosis or delusional infestation and consider the filaments to be introduced textile fibers. In contrast, recent studies indicate that MD is a true somatic illness associated with tickborne infection, that the filaments are keratin and collagen in composition and that they result from proliferation and activation of keratinocytes and fibroblasts in the skin. Previously, spirochetes have been detected in the dermatological specimens from four MD patients, thus providing evidence of an infectious process. Based on culture, histology, immunohistochemistry, electron microscopy and molecular testing, we present corroborating evidence of spirochetal infection in a larger group of 25 MD patients. Irrespective of Lyme serological reactivity, all patients in our study group demonstrated histological evidence of epithelial spirochetal infection. Strength of evidence based on other testing varied among patients. Spirochetes identified as Borrelia strains by polymerase chain reaction (PCR) and/or in-situ DNA hybridization were detected in 24/25 of our study patients. Skin cultures containing Borrelia spirochetes were obtained from four patients, thus demonstrating that the organisms present in dermatological specimens were viable. Spirochetes identified by PCR as Borrelia burgdorferi were cultured from blood in seven patients and from vaginal secretions in three patients, demonstrating systemic infection. Based on these observations, a clinical classification system for MD is proposed. Our study using multiple detection methods confirms that MD is a true somatic illness associated with Borrelia spirochetes that cause Lyme disease. Further studies are needed to determine the optimal treatment for this spirochete-associated dermopathy.

  5. A clinical study of dermatoses in diabetes to establish its markers

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    Dependra Kumar Timshina

    2012-01-01

    Full Text Available Background: Cutaneous manifestations of diabetes mellitus generally appear subsequent to the development of the disease, but they may be the first presenting signs and in some cases they may precede the primary disease manifestation by many years. Aims : T0 he aim of our study was to study the spectrum of dermatoses in diabetics, to know the frequency of dermatoses specific to diabetes mellitus (DM, and to establish the mucocutaneous markers of DM. Material and Methods: The study was conducted at a diabetic clinic and our department between September 2008 and June 2010. Two hundred and twenty-four diabetic patients were included in the study group and those with gestational diabetes were excluded. Healthy age- and sex-matched individuals were taken as controls. Results: The male to female ratio was 1 : 1.21. Type 2 DM was seen in 89.7% and type 1 DM in 10.3% of the patients. Dermatoses were seen in 88.3% of the diabetics compared to 36% in non-diabetic controls (P<0.05. Cutaneous infections were the most common dermatoses followed by acanthosis nigricans and xerosis in diabetics. Type 2 DM was found to have an increased risk of complications than type 1 DM. Complications of diabetes were seen in 43.7% of the diabetic cases. Diabetic dermopathy, loss of hair over the legs, diabetic foot ulcer, and so on, were found to be the cutaneous markers of DM in our group of cases. Conclusion: Dermatoses were more common in diabetics than non-diabetics. Cutaneous infections formed the largest group of dermatoses in DM.

  6. Two very long chain fatty acid acyl-CoA synthetase genes, acs-20 and acs-22, have roles in the cuticle surface barrier in Caenorhabditis elegans.

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    Eriko Kage-Nakadai

    Full Text Available In multicellular organisms, the surface barrier is essential for maintaining the internal environment. In mammals, the barrier is the stratum corneum. Fatty acid transport protein 4 (FATP4 is a key factor involved in forming the stratum corneum barrier. Mice lacking Fatp4 display early neonatal lethality with features such as tight, thick, and shiny skin, and a defective skin barrier. These symptoms are strikingly similar to those of a human skin disease called restrictive dermopathy. FATP4 is a member of the FATP family that possesses acyl-CoA synthetase activity for very long chain fatty acids. How Fatp4 contributes to skin barrier function, however, remains to be elucidated. In the present study, we characterized two Caenorhabditis elegans genes, acs-20 and acs-22, that are homologous to mammalian FATPs. Animals with mutant acs-20 exhibited defects in the cuticle barrier, which normally prevents the penetration of small molecules. acs-20 mutant animals also exhibited abnormalities in the cuticle structure, but not in epidermal cell fate or cell integrity. The acs-22 mutants rarely showed a barrier defect, whereas acs-20;acs-22 double mutants had severely disrupted barrier function. Moreover, the barrier defects of acs-20 and acs-20;acs-22 mutants were rescued by acs-20, acs-22, or human Fatp4 transgenes. We further demonstrated that the incorporation of exogenous very long chain fatty acids into sphingomyelin was reduced in acs-20 and acs-22 mutants. These findings indicate that C. elegans Fatp4 homologue(s have a crucial role in the surface barrier function and this model might be useful for studying the fundamental molecular mechanisms underlying human skin barrier and relevant diseases.

  7. THERAPY OF GRAVES’ DISEASE WITH SODIUM IODIDE-131

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    I Wayan Hartadi Noor

    2013-11-01

    Full Text Available Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 Graves’ disease is the most common form of thyrotoxicosis, with a peak incidence in the 20-40 year of age group. Females are involved about five times more commonly than male. The easiest sign to recognize patients with Graves’ disease is the present of Graves’ ophthalmopathy. The diagnosis of Graves’ disease may sometimes base only on a physical examination and a medical history. Diffuse thyroid enlargement and sign of thyrotoxicosis, mainly ophthalmopathy and to lesser extent dermopathy, usually adequate for diagnosis. TSH test combined with FT4 test is usually the first laboratory test performs in these patients. The patients suffered Graves’ disease can be treated with antithyroid drug therapy or undergo subtotal Thyroidectomy. Another therapy is by using sodium iodide-131, where this therapy has advantages including easy administration, effectiveness, low expense, and absence of pain. /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

  8. Nucleoskeleton dynamics and functions in health and disease

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    Meinke P

    2015-01-01

    Full Text Available Peter Meinke, Alexandr A Makarov, Phú Lê Thành, Daina Sadurska, Eric C SchirmerWellcome Trust Centre for Cell Biology and Institute of Cell Biology, University of Edinburgh, Edinburgh, UKAbstract: It is a common misconception to view the "cyto"-skeleton as just the filament systems in the "cyto"-plasm. In fact, the cytoskeleton extends into the nucleus where the complex network connects to chromatin, and it also connects through the plasma membrane to the cytoskeleton of adjacent cells and to the "exo"-skeleton of the extracellular matrix. This review will focus principally on the subcomplex of the cytoskeleton associated with the nucleus, often referred to as the nucleoskeleton, but in the context of its extensive interconnectivity with the rest of the nucleus and with cytoplasmic filament systems all the way to the exoskeleton. The nucleoskeleton, made principally of type-V intermediate filament lamins, connects across the double membrane system of the nuclear envelope to likely all three primary cytoplasmic filament systems. It provides structural stability to the nucleus, and also incredible flexibility. In both its core structural aspect and through specificity gained by tissue-specific partner proteins, it contributes to genome organization and regulation as well as to signal transduction, both through chemical signaling cascades and likely through mechanotransduction. Defects in the nucleoskeleton have far-ranging effects due to its interactions with cytoplasmic filament systems, from mispositioning of nuclei to disruption of cell polarity and both decreased and increased cell migration depending on the defect. Accordingly, it is not surprising that many nucleoskeletal components are linked to a wide range of human diseases from specific types of cancer to muscular dystrophies, neuropathies, dermopathies, and premature aging syndromes.Keywords: nuclear envelope, lamin, LINC complex, cytoskeleton, nuclear envelopathies

  9. Thyroid-Stimulating Hormone Receptor Antibodies in Pregnancy: Clinical Relevance

    Science.gov (United States)

    Bucci, Ines; Giuliani, Cesidio; Napolitano, Giorgio

    2017-01-01

    Graves’ disease is the most common cause of thyrotoxicosis in women of childbearing age. Approximately 1% of pregnant women been treated before, or are being treated during pregnancy for Graves’ hyperthyroidism. In pregnancy, as in not pregnant state, thyroid-stimulating hormone (TSH) receptor (TSHR) antibodies (TRAbs) are the pathogenetic hallmark of Graves’ disease. TRAbs are heterogeneous for molecular and functional properties and are subdivided into activating (TSAbs), blocking (TBAbs), or neutral (N-TRAbs) depending on their effect on TSHR. The typical clinical features of Graves’ disease (goiter, hyperthyroidism, ophthalmopathy, dermopathy) occur when TSAbs predominate. Graves’ disease shows some peculiarities in pregnancy. The TRAbs disturb the maternal as well as the fetal thyroid function given their ability to cross the placental barrier. The pregnancy-related immunosuppression reduces the levels of TRAbs in most cases although they persist in women with active disease as well as in women who received definitive therapy (radioiodine or surgery) before pregnancy. Changes of functional properties from stimulating to blocking the TSHR could occur during gestation. Drug therapy is the treatment of choice for hyperthyroidism during gestation. Antithyroid drugs also cross the placenta and therefore decrease both the maternal and the fetal thyroid hormone production. The management of Graves’ disease in pregnancy should be aimed at maintaining euthyroidism in the mother as well as in the fetus. Maternal and fetal thyroid dysfunction (hyperthyroidism as well as hypothyroidism) are in fact associated with several morbidities. Monitoring of the maternal thyroid function, TRAbs measurement, and fetal surveillance are the mainstay for the management of Graves’ disease in pregnancy. This review summarizes the biochemical, immunological, and therapeutic aspects of Graves’ disease in pregnancy focusing on the role of the TRAbs in maternal and fetal

  10. A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves` ophthalmopathy

    Energy Technology Data Exchange (ETDEWEB)

    Bahn, R.S.; Dutton, C.M.; Heufelder, A.E.; Sarkar, G. [Mayo Clinic/Foundation, Rochester, MN (United States)]|[Ludwig-Maximilians-Universitat, Munich (Germany)

    1994-02-01

    Orbital and pretibial fibroblasts are targets of autoimmune attack in Graves` ophthalmopathy (GO) and pretibial dermopathy (PTD). The fibroblast autoantigen involved in these peripheral manifestations of Graves` disease and the reason for the association of GO and PTD with hyperthyroidism are unknown. RNA encoding the full-length extracellular domain of the TSH receptor has been demonstrated in orbital and dermal fibroblasts from patients with GO and normal subjects, suggesting a possible antigenic link between fibroblasts and thyrocytes. RNA was isolated from cultured orbital, pretibial, and abdominal fibroblasts obtained from patients with severe GO (n = 22) and normal subjects (n = 5). RNA was reverse transcribed, and the resulting cDNA was amplified by the polymerase chain reaction, using primers spanning overlapping regions of the entire extracellular domain of the TSH receptor. Nucleotide sequence analysis showed an A for C substitution in the first position of codon 52 in 2 of the patients, both of whom had GO, PTD, and acropachy. Genomic DNA isolated from the 2 affected patients, and not from an additional 12 normal subjects, revealed the codon 52 mutation by direct sequencing and AciI restriction enzyme digestions. In conclusion, the authors have demonstrated the presence of a genomic point mutation, leading to a threonine for proline amino acid shift in the predicted peptide, in the extracellular domain of the TSH receptor in two patients with severe GO, PTD, acropachy, and high thyroid-stimulating immunoglobulin levels. RNA encoding this mutant product was demonstrated in the fibroblasts of these patients. They suggest that the TSH receptor may be an important fibroblast autoantigen in GO and PTD, and that this mutant form of the receptor may have unique immunogenic properties. 28 refs., 3 figs., 2 tabs.

  11. Thyroid-Stimulating Hormone Receptor Antibodies in Pregnancy: Clinical Relevance

    Directory of Open Access Journals (Sweden)

    Ines Bucci

    2017-06-01

    Full Text Available Graves’ disease is the most common cause of thyrotoxicosis in women of childbearing age. Approximately 1% of pregnant women been treated before, or are being treated during pregnancy for Graves’ hyperthyroidism. In pregnancy, as in not pregnant state, thyroid-stimulating hormone (TSH receptor (TSHR antibodies (TRAbs are the pathogenetic hallmark of Graves’ disease. TRAbs are heterogeneous for molecular and functional properties and are subdivided into activating (TSAbs, blocking (TBAbs, or neutral (N-TRAbs depending on their effect on TSHR. The typical clinical features of Graves’ disease (goiter, hyperthyroidism, ophthalmopathy, dermopathy occur when TSAbs predominate. Graves’ disease shows some peculiarities in pregnancy. The TRAbs disturb the maternal as well as the fetal thyroid function given their ability to cross the placental barrier. The pregnancy-related immunosuppression reduces the levels of TRAbs in most cases although they persist in women with active disease as well as in women who received definitive therapy (radioiodine or surgery before pregnancy. Changes of functional properties from stimulating to blocking the TSHR could occur during gestation. Drug therapy is the treatment of choice for hyperthyroidism during gestation. Antithyroid drugs also cross the placenta and therefore decrease both the maternal and the fetal thyroid hormone production. The management of Graves’ disease in pregnancy should be aimed at maintaining euthyroidism in the mother as well as in the fetus. Maternal and fetal thyroid dysfunction (hyperthyroidism as well as hypothyroidism are in fact associated with several morbidities. Monitoring of the maternal thyroid function, TRAbs measurement, and fetal surveillance are the mainstay for the management of Graves’ disease in pregnancy. This review summarizes the biochemical, immunological, and therapeutic aspects of Graves’ disease in pregnancy focusing on the role of the TRAbs in maternal and

  12. Wilms’ Tumor Blastemal Stem Cells Dedifferentiate to Propagate the Tumor Bulk

    Science.gov (United States)

    Shukrun, Rachel; Pode-Shakked, Naomi; Pleniceanu, Oren; Omer, Dorit; Vax, Einav; Peer, Eyal; Pri-Chen, Sara; Jacob, Jasmine; Hu, Qianghua; Harari-Steinberg, Orit; Huff, Vicki; Dekel, Benjamin

    2014-01-01

    Summary An open question remains in cancer stem cell (CSC) biology whether CSCs are by definition at the top of the differentiation hierarchy of the tumor. Wilms’ tumor (WT), composed of blastema and differentiated renal elements resembling the nephrogenic zone of the developing kidney, is a valuable model for studying this question because early kidney differentiation is well characterized. WT neural cell adhesion molecule 1-positive (NCAM1+) aldehyde dehydrogenase 1-positive (ALDH1+) CSCs have been recently isolated and shown to harbor early renal progenitor traits. Herein, by generating pure blastema WT xenografts, composed solely of cells expressing the renal developmental markers SIX2 and NCAM1, we surprisingly show that sorted ALDH1+ WT CSCs do not correspond to earliest renal stem cells. Rather, gene expression and proteomic comparative analyses disclose a cell type skewed more toward epithelial differentiation than the bulk of the blastema. Thus, WT CSCs are likely to dedifferentiate to propagate WT blastema. PMID:25068119

  13. Adenocarcinoma of the urinary bladder, mesonephroid type: a rare case

    Directory of Open Access Journals (Sweden)

    Mahmoud Abbas

    2013-02-01

    Full Text Available Primary adenocarcinoma of the urinary bladder is a rare disease. It occurs in 0.5-2% of all bladder cancers and is discussed as the malignant counterpart of nephrogenic adenomas. We report a 46-year-old white female presented with gross hematuria for clinical examination. Histopathology revealed pT2, Pn1, L1, G2 adenocarcinoma of the bladder and carcinoma in situ according to the TNM classification. Computed tomography scan diagnostic was unremarkable. Patients with adenocarcinoma of the urinary bladder should be treated vigorously and without time delay. Only 7 cases of adenocarcinoma in the urinary bladder (mesonephroid have been described until now. We present a case of clear cell adenocarcinoma of the urinary bladder, mesonephroid type that early diagnosed and till now 3 months after the cystectomy without symptoms and without complications.

  14. Clinical role of non-contrast magnetic resonance angiography for evaluation of renal artery stenosis

    International Nuclear Information System (INIS)

    Utsunomiya, Daisuke; Nomitsu, Yohei; Komeda, Yosuke; Okigawa, Takashi; Urata, Joji; Miyazaki, Mitsue; Yamashita, Yasuyuki

    2008-01-01

    The association between a gadolinium-based contrast material and nephrogenic systemic fibrosis has been discussed. The purpose of our study was to evaluate whether non-contrast enhanced magnetic resonance angiography (MRA) might provide sufficient information of renal artery stenosis. The non-contrast MRA of 26 patients with hypertension was retrospectively reviewed in the present study. The significant renal artery stenosis was visually evaluated by comparing non-contrast MRA with computed tomography or conventional angiographic finding. Difference of the intensities between the proximal and distal aorta was quantitatively evaluated. The sensitivity, specificity, positive predictive value and negative predictive value of non-contrast MRA in the evaluation of the renal artery stenosis was 78%, 91%, 64% and 96%, respectively. The distal abdominal aorta showed less signal intensity than the proximal aorta by 16.9±12.2%. Non-contrast MRA is a non-invasive and effective method that allows evaluation of the renal artery stenosis. (author)

  15. Dermatological diseases in patients with chronic kidney disease.

    Science.gov (United States)

    Gagnon1, Amy L; Desai, Tejas

    2013-04-01

    There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Some cutaneous diseases are clearly unique to this population. Of them, Lindsay's Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions.

  16. Autoimmune central diabetes insipidus in a patient with ureaplasma urealyticum infection and review on new triggers of immune response.

    Science.gov (United States)

    Murdaca, Giuseppe; Russo, Rodolfo; Spanò, Francesca; Ferone, Diego; Albertelli, Manuela; Schenone, Angelo; Contatore, Miriam; Guastalla, Andrea; De Bellis, Annamaria; Garibotto, Giacomo; Puppo, Francesco

    2015-12-01

    Diabetes insipidus is a disease in which large volumes of dilute urine (polyuria) are excreted due to vasopressin (AVP) deficiency [central diabetes insipidus (CDI)] or to AVP resistance (nephrogenic diabetes insipidus). In the majority of patients, the occurrence of CDI is related to the destruction or degeneration of neurons of the hypothalamic supraoptic and paraventricular nuclei. The most common and well recognized causes include local inflammatory or autoimmune diseases, vascular disorders, Langerhans cell histiocytosis (LCH), sarcoidosis, tumors such as germinoma/craniopharyngioma or metastases, traumatic brain injuries, intracranial surgery, and midline cerebral and cranial malformations. Here we have the opportunity to describe an unusual case of female patient who developed autoimmune CDI following ureaplasma urealyticum infection and to review the literature on this uncommon feature. Moreover, we also discussed the potential mechanisms by which ureaplasma urealyticum might favor the development of autoimmune CDI.

  17. Linking Drugs to Obscure Illnesses

    DEFF Research Database (Denmark)

    Bennett, Charles L; Starko, Karen M; Thomsen, Henrik S

    2012-01-01

    Identification of serious adverse drug reactions (sADRS) associated with commonly used drugs can elude detection for years. Reye's syndrome (RS), nephrogenic systemic fibrosis (NSF), and pure red cell aplasia (PRCA) among chronic kidney disease (CKD) patients were recognized in 1951, 2000, and 1998......-savings considerations, and a European regulatory requirement requiring removal of albumin as a stabilizer, led to toxicity. Overall, 81, 13, and 17 years elapsed between drug introduction into practice and identification of a causal relationship for aspirin, erythropoietin, and gadodiamide, respectively. A substantial...... decline in new cases of these sADRs occurred within two years of identification of the offending drug. Clinicians should be vigilant for sADRs, even for frequently-prescribed pharmaceuticals, particularly in settings where formulation or regulatory changes have occurred, or when over-the-counter, off...

  18. Severe Eosinophilic Syndrome Associated with the Use of Probiotic Supplements: A New Entity?

    Directory of Open Access Journals (Sweden)

    Fabian A. Mendoza

    2012-01-01

    Full Text Available Severe eosinophilic syndromes related to the administration or use of unsuspected immunogenic substances have been described previously. Many of these diseases presented initially as clusters or isolated cases. The spanish toxic oil syndrome, the eosinophilia myalgia syndrome, and nephrogenic systemic fibrosis are examples of such diseases. We describe 2 cases of a severe eosinophilic syndrome characterized by marked peripheral blood eosinophilia (>15,000 cells/ml, mononeuritis multiplex, and necrotizing vasculitis which developed in a close temporal association with the recent onset use of nonprescription probiotics. There was no history of a prior autoimmune disease. Although both cases had prompt response to immunosuppression with rapid resolution of peripheral blood eosinophilia and accompanying constitutional symptoms, they remained with permanent neurological deficits.

  19. Diabetes insipidus during pregnancy.

    Science.gov (United States)

    Ananthakrishnan, Sonia

    2016-03-01

    Diabetes insipidus (DI) in pregnancy is a heterogeneous syndrome, most classically presenting with polyuria and polydipsia that can complicate approximately 1 in 30,000 pregnancies. The presentation can involve exacerbation of central or nephrogenic DI during pregnancy, which may have been either overt or subclinical prior to pregnancy. Women without preexisting DI can also be affected by the actions of placental vasopressinase which increases in activity between the 4th and 38th weeks of gestation, leading to accelerated metabolism of AVP and causing a transient form of DI of pregnancy. This type of DI may be associated with certain complications during pregnancy and delivery, such as preeclampsia. Management of DI of pregnancy depends on the pathophysiology of the disease; forms of DI that lack AVP can be treated with desmopressin (DDAVP), while forms of DI that involve resistance to AVP require evaluation of the underlying causes. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Intra-voxel incoherent motion perfusion MR Imaging: a wake-up call

    Energy Technology Data Exchange (ETDEWEB)

    Le Bihan, D. [CEA Saclay, DSV, I2BM, F-91191 Gif Sur Yvette (France)

    2008-07-01

    This work gives the results of several studies made by different authors on IVIM MR Imaging. It appears that there are genuine potential applications for IVIM MR imaging. Perfusion is a very important surrogate marker of many physiologic or pathologic processes. MR imaging perfusion parameters can be obtained by using gadolinium-based contrast agents, either injected as a bolus (to determine blood flow, transit times, etc) or in a steady-state mode (to address blood volume, vessel permeability, etc). With the rising concern of nephrogenic systemic fibrosis, some patients cannot be examined with such an approach. IVIM MR imaging may then appear as an interesting alternative to provide crucial clues on perfusion in tissues, such as the kidneys, the liver, or even the placenta during pregnancy. (O.M.)

  1. Intra-voxel incoherent motion perfusion MR Imaging: a wake-up call

    International Nuclear Information System (INIS)

    Le Bihan, D.

    2008-01-01

    This work gives the results of several studies made by different authors on IVIM MR Imaging. It appears that there are genuine potential applications for IVIM MR imaging. Perfusion is a very important surrogate marker of many physiologic or pathologic processes. MR imaging perfusion parameters can be obtained by using gadolinium-based contrast agents, either injected as a bolus (to determine blood flow, transit times, etc) or in a steady-state mode (to address blood volume, vessel permeability, etc). With the rising concern of nephrogenic systemic fibrosis, some patients cannot be examined with such an approach. IVIM MR imaging may then appear as an interesting alternative to provide crucial clues on perfusion in tissues, such as the kidneys, the liver, or even the placenta during pregnancy. (O.M.)

  2. Skin manifestations of chronic kidney disease.

    Science.gov (United States)

    Robles-Mendez, J C; Vazquez-Martinez, O; Ocampo-Candiani, J

    2015-10-01

    Skin manifestations associated with chronic kidney disease are very common. Most of these conditions present in the end stages and may affect the patient's quality of life. Knowledge of these entities can contribute to establishing an accurate diagnosis and prognosis. Severe renal pruritus is associated with increased mortality and a poor prognosis. Nail exploration can provide clues about albumin and urea levels. Nephrogenic systemic fibrosis is a preventable disease associated with gadolinium contrast. Comorbidities, such as diabetes mellitus and secondary hyperparathyroidism, can lead to acquired perforating dermatosis and calciphylaxis, respectively. Effective and innovative treatments are available for all of these conditions. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

  3. Lithium and nephrotoxicity: Unravelling the complex pathophysiological threads of the lightest metal.

    Science.gov (United States)

    Davis, J; Desmond, M; Berk, M

    2018-04-01

    While lithium remains the most efficacious treatment for bipolar disorder, it can cause significant nephrotoxicity. The molecular mechanisms behind both this process and the development of nephrogenic diabetes insipidus still remain to be fully elucidated but appear to involve alterations in glycogen synthase kinase 3 signalling, G2 cell cycle progression arrest, alterations in inositol and prostaglandin signalling pathways, and dysregulated trafficking and transcription of aquaporin 2 water channels. The end result of this is a tubulointerstitial nephropathy with microcyst formation and relative glomerular sparing, both visible on pathology specimens and increasingly noted on non-invasive imaging. This paper will elucidate on the current evidence pertaining to the pathophysiology of lithium induced nephrotoxicity. This article is protected by copyright. All rights reserved.

  4. Extracellular gadolinium-based contrast media: An overview

    International Nuclear Information System (INIS)

    Bellin, Marie-France; Van Der Molen, Aart J.

    2008-01-01

    Increasing use is made of extracellular MRI contrast agents that alter the image contrast following intravenous administration; they predominantly shorten the T1 relaxation time of tissues. The degree and location of these changes provide substantial diagnostic information. However gadolinium-based contrast agents (Gd-CA) are not inert drugs. They may cause acute non-renal adverse reactions (e.g. anaphylactoid reactions), acute renal adverse reactions (e.g. contrast induced nephropathy), delayed adverse reactions (nephrogenic systemic fibrosis) and problems at the site of injection (e.g. local necrosis). This review describes the current status of Gd-CA, their mechanism of action, chemical structure, pharmacokinetics, dosage, elimination, nephrotoxicity and adverse events

  5. Extracellular gadolinium-based contrast media: An overview

    Energy Technology Data Exchange (ETDEWEB)

    Bellin, Marie-France [University Paris-Sud 11, Department of Radiology, University Hospital Paul-Brousse, AP-HP, 12, Avenue Paul Vaillant-Couturier, 94804 Villejuif Cedex (France)], E-mail: marie-france.bellin@pbr.aphp.fr; Van Der Molen, Aart J. [University Paris-Sud 11, Department of Radiology, University Hospital Paul-Brousse, AP-HP, 12, Avenue Paul Vaillant-Couturier, 94804 Villejuif Cedex (France)

    2008-05-15

    Increasing use is made of extracellular MRI contrast agents that alter the image contrast following intravenous administration; they predominantly shorten the T1 relaxation time of tissues. The degree and location of these changes provide substantial diagnostic information. However gadolinium-based contrast agents (Gd-CA) are not inert drugs. They may cause acute non-renal adverse reactions (e.g. anaphylactoid reactions), acute renal adverse reactions (e.g. contrast induced nephropathy), delayed adverse reactions (nephrogenic systemic fibrosis) and problems at the site of injection (e.g. local necrosis). This review describes the current status of Gd-CA, their mechanism of action, chemical structure, pharmacokinetics, dosage, elimination, nephrotoxicity and adverse events.

  6. Bilateral renal dysplasia, nephroblastomatosis, and bronchial stenosis. A new syndrome?

    Science.gov (United States)

    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E

    2015-06-01

    Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB.

  7. Progressive Recruitment of Mesenchymal Progenitors Reveals a Time-Dependent Process of Cell Fate Acquisition in Mouse and Human Nephrogenesis.

    Science.gov (United States)

    Lindström, Nils O; De Sena Brandine, Guilherme; Tran, Tracy; Ransick, Andrew; Suh, Gio; Guo, Jinjin; Kim, Albert D; Parvez, Riana K; Ruffins, Seth W; Rutledge, Elisabeth A; Thornton, Matthew E; Grubbs, Brendan; McMahon, Jill A; Smith, Andrew D; McMahon, Andrew P

    2018-06-04

    Mammalian nephrons arise from a limited nephron progenitor pool through a reiterative inductive process extending over days (mouse) or weeks (human) of kidney development. Here, we present evidence that human nephron patterning reflects a time-dependent process of recruitment of mesenchymal progenitors into an epithelial nephron precursor. Progressive recruitment predicted from high-resolution image analysis and three-dimensional reconstruction of human nephrogenesis was confirmed through direct visualization and cell fate analysis of mouse kidney organ cultures. Single-cell RNA sequencing of the human nephrogenic niche provided molecular insights into these early patterning processes and predicted developmental trajectories adopted by nephron progenitor cells in forming segment-specific domains of the human nephron. The temporal-recruitment model for nephron polarity and patterning suggested by direct analysis of human kidney development provides a framework for integrating signaling pathways driving mammalian nephrogenesis. Copyright © 2018 Elsevier Inc. All rights reserved.

  8. Contrast-enhanced peripheral MRA

    DEFF Research Database (Denmark)

    Nielsen, Yousef W; Thomsen, Henrik S

    2012-01-01

    MRI contrast agent is injected intravenously and T1-weighted images are acquired in the subsequent arterial first-pass phase. In order to achieve high quality MR angiograms without interfering venous contamination or artifacts, a number of factors need to be taken into account. This includes magnetic......-state MRA. Gadolinium(Gd)-based contrast agents are used for CE-MRA of the peripheral arteries. Extracellular Gd agents have a pharmacokinetic profile similar to iodinated contrast media. Accordingly, these agents are employed for first-pass MRA. Blood-pool Gd-based agents are characterized by prolonged...... intravascular stay, due to macromolecular structure or protein binding. These agents can be used for first-pass, as well as steady-state MRA. Some Gd-based contrast agents with low thermodynamic stability have been linked to development of nephrogenic systemic fibrosis in patients with severe renal...

  9. Adverse events caused by MRI contrast agents: Implications for radiographers who inject

    International Nuclear Information System (INIS)

    Marshall, Gill; Kasap, Chris

    2012-01-01

    This article provides a comprehensive literature review regarding side effects both minor and major associated with contrast agent injection. This includes a discussion of nephrogenic systemic fibrosis (NSF), which remains highly topical. Radiographers now commonly are responsible for injection of contrast agent in patients, in keeping with their extended role. Therefore it is incumbent on them to understand the agents they inject, the contra-indications for injection and any potential associated risks, so that they can act and react accordingly in a timely manner. The need for this knowledge was made very evident after the recent death of a patient from anaphylactic shock when there was a delay in mounting the appropriate procedure. This paper represents a synthesis of relevant articles and reflects on the results, before drawing appropriate conclusions particularly those of special relevance to radiographers.

  10. Eosinophilic fasciitis

    Directory of Open Access Journals (Sweden)

    Karolina Niklas

    2015-01-01

    Full Text Available Eosinophilic fasciitis is a rare connective tissue disease with unclear etiology and pathogenesis. It is classified as a scleroderma-like syndrome. The disease is characterized by fibrosis of the skin and subcutaneous tissues with significant thickening of fascia. Visceral involvement is rare. Characteristic feature in laboratory tests is peripheral blood eosinophilia. Differential diagnosis should be performed, including ruling out systemic sclerosis, nephrogenic systemic fibrosis, eosinophilia-myalgia syndrome, scleromyxedema, hypereosinophilic syndrome or Churg-Strauss syndrome. Final diagnosis is confirmed by histopathological examination. In treatment of the disease corticosteroids and/or immunosuppressive drugs are used. Some other drugs showed activity in this disease e.g. dapsone, infiximab or rituximab. Prognosis is rather good but sometimes a long-term treatment is necessary. In this paper we summarized the current knowledge on eosinophilic fasciitis.

  11. Tacrolimus Aggravated Tube Feeding Syndrome with Acute Renal Failure in a Pediatric Liver Transplant Recipient

    Directory of Open Access Journals (Sweden)

    R. Kula

    2017-01-01

    Full Text Available Acute renal failure can be caused by calcineurin inhibitors (CNIs, due to arteriolopathy and altered tubular function. Within this context, we present the case of a 14-month-old liver transplant recipient who suffered an acute polyuric renal failure during a short episode of hypercaloric feeding. In our case, CNI-induced distal RTA led to nephrocalcinosis and therefore to secondary nephrogenic diabetes insipidus. The diet with high renal solute load consequently resulted in an acute polyuric renal failure with severe hypernatremic dehydration. In conclusion, a hypercaloric diet in children with potentially impaired renal function due to therapy with CNIs requires precise calculation of the potential renal solute load and the associated fluid requirements.

  12. MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours

    KAUST Repository

    Perlman, Elizabeth J.

    2015-12-04

    Wilms tumour is an embryonal tumour of childhood that closely resembles the developing kidney. Genomic changes responsible for the development of the majority of Wilms tumours remain largely unknown. Here we identify recurrent mutations within Wilms tumours that involve the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation during early development. The mutant MLLT1 protein shows altered binding to acetylated histone tails. Moreover, MLLT1-mutant tumours show an increase in MYC gene expression and HOX dysregulation. Patients with MLLT1-mutant tumours present at a younger age and have a high prevalence of precursor intralobar nephrogenic rests. These data support a model whereby activating MLLT1 mutations early in renal development result in the development of Wilms tumour.

  13. MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours

    KAUST Repository

    Perlman, Elizabeth J.; Gadd, Samantha; Arold, Stefan T.; Radhakrishnan, Anand; Gerhard, Daniela S.; Jennings, Lawrence; Huff, Vicki; Guidry Auvil, Jaime M.; Davidsen, Tanja M.; Dome, Jeffrey S.; Meerzaman, Daoud; Hsu, Chih Hao; Nguyen, Cu; Anderson, James; Ma, Yussanne; Mungall, Andrew J; Moore, Richard A.; Marra, Marco A.; Mullighan, Charles G; Ma, Jing; Wheeler, David A.; Hampton, Oliver A.; Gastier-Foster, Julie M.; Ross, Nicole; Smith, Malcolm A.

    2015-01-01

    Wilms tumour is an embryonal tumour of childhood that closely resembles the developing kidney. Genomic changes responsible for the development of the majority of Wilms tumours remain largely unknown. Here we identify recurrent mutations within Wilms tumours that involve the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation during early development. The mutant MLLT1 protein shows altered binding to acetylated histone tails. Moreover, MLLT1-mutant tumours show an increase in MYC gene expression and HOX dysregulation. Patients with MLLT1-mutant tumours present at a younger age and have a high prevalence of precursor intralobar nephrogenic rests. These data support a model whereby activating MLLT1 mutations early in renal development result in the development of Wilms tumour.

  14. Diabetes Insipidus.

    Science.gov (United States)

    Lu, H A Jenny

    2017-01-01

    Disruption of water and electrolyte balance is frequently encountered in clinical medicine. Regulating water metabolism is critically important. Diabetes insipidus (DI) presented with excessive water loss from the kidney is a major disorder of water metabolism. To understand the molecular and cellular mechanisms and pathophysiology of DI and rationales of clinical management of DI is important for both research and clinical practice. This chapter will first review various forms of DI focusing on central diabetes insipidus (CDI) and nephrogenic diabetes insipidus (NDI ) . This is followed by a discussion of regulatory mechanisms underlying CDI and NDI , with a focus on the regulatory axis of vasopressin, vasopressin receptor 2 (V2R ) and the water channel molecule, aquaporin 2 (AQP2 ). The clinical manifestation, diagnosis and management of various forms of DI will also be discussed with highlights of some of the latest therapeutic strategies that are developed from in vitro experiments and animal studies.

  15. An immunophenotypic comparison of metanephric metaplasia of Bowman capsular epithelium with metanephric adenoma, Wilms tumor, and renal development: a case report and review of the literature.

    Science.gov (United States)

    Fischer, Edgar G; Carney, J Aidan; Anderson, Scott R; Klatt, Edward C; Lager, Donna J

    2004-06-01

    Metanephric metaplasia of the parietal epithelium of the Bowman capsule is a rare pathologic finding of unknown pathogenesis that has occurred in patients with widespread malignant neoplasms of various types. We report this finding in a 25-year-old woman with partial expression of the Carney triad who died of a disseminated gastrointestinal stromal tumor, specifically a gastric stromal sarcoma. The metaplasia involved both kidneys diffusely. It originated in the parietal epithelium of the Bowman capsule, extended into the proximal tubules, and focally surrounded the glomeruli in a semicircular manner Immunohistochemical analysis revealed that the cells of metanephric metaplasia expressed the Wilms tumor gene product, bcl-2 protein, and CD57 and cytokeratin 7 and keratin AE1/AE3 focally, but not CD56. This immunophenotype parallels that of metanephric adenoma, Wilms tumor, and nephrogenic rests and overlaps with antigen expression in certain periods of renal development.

  16. [Lithium carbonate-induced hyperparathyroidism in a patient after removal of a parathyroid adenoma].

    Science.gov (United States)

    Krysiak, Robert; Okopień, Bogusław

    2015-01-01

    Lithium compounds are widely used and effective drugs in the treatment of mood disorders. However, despite their efficacy, the use of lithium salts is limited by their narrow therapeutic window. Treatment with lithium salts may be associated with the risk of development of numerous adverse effects. Endocrine complications include: thyroid dysfunction, nephrogenic diabetes insipidus and hyperparathyroidism. Because symptoms of lithium-induced hyperparathyroidism may resemble those of the underlying disorder, hyperparathyroidism sometimes remains undetected. The pathogenic mechanism for parathyroid dysfunction in lithium-treated patients is still unclear. We report a patient who had undergone removal of a parathyroid adenoma and later developed lithium-induced hyperparathyroidism. Cessation of lithium treatment normalised parathyroid function. The described case suggests that patients with pre-existing parathyroid disorders may be particularly susceptible to the development of lithium-induced hyperparathyroidism.

  17. Lithium Poisoning

    DEFF Research Database (Denmark)

    Baird-Gunning, Jonathan; Lea-Henry, Tom; Hoegberg, Lotte C G

    2017-01-01

    Lithium is a commonly prescribed treatment for bipolar affective disorder. However, treatment is complicated by lithium's narrow therapeutic index and the influence of kidney function, both of which increase the risk of toxicity. Therefore, careful attention to dosing, monitoring, and titration...... is required. The cause of lithium poisoning influences treatment and 3 patterns are described: acute, acute-on-chronic, and chronic. Chronic poisoning is the most common etiology, is usually unintentional, and results from lithium intake exceeding elimination. This is most commonly due to impaired kidney...... function caused by volume depletion from lithium-induced nephrogenic diabetes insipidus or intercurrent illnesses and is also drug-induced. Lithium poisoning can affect multiple organs; however, the primary site of toxicity is the central nervous system and clinical manifestations vary from asymptomatic...

  18. Bilateral disease and new trends in Wilms tumour

    Energy Technology Data Exchange (ETDEWEB)

    Owens, Catherine M.; Olsen, Oeystein E. [Great Ormond Street Hospital for Children NHS Trust, Department of Radiology, London (United Kingdom); Brisse, Herve J. [Institut Curie, Service de Radiodiagnostic, Paris (France); Begent, Joanna [University College Hospital, Paediatric Oncology, London (United Kingdom); Smets, Anne M. [Academic Medical Center Amsterdam, Department of Radiology, Amsterdam (Netherlands)

    2008-01-15

    Wilms tumour is a great therapeutic success story within paediatric oncology; its prognosis is excellent. Although mainly sporadic, occurring in otherwise well children, it occurs in a small number of genetically predisposed children. Thus regular surveillance imaging is performed in predisposed children in parts of the USA and Europe. The risks and benefits of surveillance are unclear, as the existing ad-hoc surveillance protocols are lacking in consistency of practice and equity of provision. We present guidelines for Wilms tumour surveillance based on a review of current practice and available evidence, outlined by a multidisciplinary working group in the UK. Wilms tumours are bilateral in 4-13% of affected children. Bilateral synchronous nephroblastomas are observed in 5% of affected children and are usually associated with the presence of nephrogenic rests, congenital malformations and predisposing syndromes. The major challenge in bilateral disease is to achieve a cure and at the same time to preserve sufficient functional renal tissue for normal growth and development. The association among Wilms tumour, nephrogenic rests and nephroblastomatosis makes detection and characterization of renal lesions with imaging extremely important. We discuss the relative strengths and weaknesses of the different modalities used for diagnosis and follow-up in bilateral renal disease. We also discuss newly emerging diagnostic imaging tests such as {sup 18}F-fluorodeoxyglucose positron emission tomography (FDG-PET). This technique, when fused with CT (PET-CT), allows accelerated metabolic activity to be accurately anatomically localised and so is potentially useful for staging, assessment of treatment response, and for surgical and radiotherapy planning. In addition, quantitative MRI techniques have been proved to be valuable in intracranial tumours, but no such role has been validated in abdominal disease. Diffusion-weighted imaging with calculation of ADC maps is feasible in

  19. Copeptin in the differential diagnosis of the polydipsia-polyuria syndrome--revisiting the direct and indirect water deprivation tests.

    Science.gov (United States)

    Fenske, Wiebke; Quinkler, Marcus; Lorenz, Daniela; Zopf, Kathrin; Haagen, Ulrike; Papassotiriou, Jana; Pfeiffer, Andreas F H; Fassnacht, Martin; Störk, Stefan; Allolio, Bruno

    2011-05-01

    The water deprivation test (WDT) with direct or indirect measurement of plasma arginine vasopressin (AVP) is the method of choice for the differential diagnosis of the polydipsia-polyuria syndrome. In theory, direct measurement of AVP is highly attractive but is hampered by technical difficulties. The aim of the study was to evaluate the utility of copeptin, a surrogate of AVP secretion, in the diagnostic work-up of the polyuria-polydipsia syndrome and to compare its performance with the current diagnostic standard. In two tertiary referral centers, 20 healthy subjects and 50 patients with polydipsia-polyuria syndrome underwent WDT with measurements of both plasma AVP and copeptin levels. The reference diagnosis was based on clinical information and treatment response. Twenty-two patients (44%) were diagnosed with primary polydipsia, 17 (34%) with partial central diabetes insipidus (DI), nine (18%) with complete central DI, and two (4%) with nephrogenic DI. The indirect WDT led to a correct diagnosis in 35 of 50 patients (70%). The direct WDT with AVP or copeptin measurement correctly diagnosed 23 patients (46%) or 36 patients (72%), respectively. Baseline copeptin values greater than 20 pmol/liter identified patients with nephrogenic DI, and concentrations below 2.6 pmol/liter indicated complete central DI. The ratio between Δ copeptin (0800 to 1600 h) and serum sodium concentration at 1600 h yielded optimal diagnostic accuracy, allowing us to also discern partial central DI from primary polydipsia (sensitivity 86%, and specificity 100%). Copeptin holds promise as a diagnostic tool in the polyuria-polydipsia syndrome, improving significantly the diagnostic accuracy of the direct WDT.

  20. Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

    Science.gov (United States)

    Santoro, Claudia; Apicella, Andrea; Casale, Fiorina; La Manna, Angela; Di Martino, Martina; Di Pinto, Daniela; Indolfi, Cristiana; Perrotta, Silverio

    2016-06-13

    Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases. Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child's kidneys were examined by ultrasound at 2 years of age to exclude kidney abnormalities associated with the syndrome. She underwent pre-operative chemotherapy and nephrectomy. Seven months later she was healthy and without residual detectable disease. The previous report of such co-occurrence, together with our report and previous reports of nephrogenic rests, led us to wonder if there may be any causal relationship between these two rare entities. The wingless/integrated (Wnt) pathway, which is implicated in kidney development, is constitutively activated in approximately 15-20 % of all non-anaplastic Wilms tumors. Interestingly, the Wnt pathway was recently found to be perturbed in a zebrafish model of Cornelia de Lange syndrome. Mutations in cohesin complex genes and regulators have also been identified in several types of cancers. On the other hand, there is no clear evidence of an increased risk of cancer in Cornelia de Lange syndrome, and no other similar cases have been published since the fist one reported by Cohen, and this prompts to think Wilms tumor and Cornelia de Lange syndrome occurred together in our patient by chance.

  1. Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report

    International Nuclear Information System (INIS)

    Santoro, Claudia; Apicella, Andrea; Casale, Fiorina; La Manna, Angela; Di Martino, Martina; Di Pinto, Daniela; Indolfi, Cristiana; Perrotta, Silverio

    2016-01-01

    Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases. Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child’s kidneys were examined by ultrasound at 2 years of age to exclude kidney abnormalities associated with the syndrome. She underwent pre-operative chemotherapy and nephrectomy. Seven months later she was healthy and without residual detectable disease. The previous report of such co-occurrence, together with our report and previous reports of nephrogenic rests, led us to wonder if there may be any causal relationship between these two rare entities. The wingless/integrated (Wnt) pathway, which is implicated in kidney development, is constitutively activated in approximately 15–20 % of all non-anaplastic Wilms tumors. Interestingly, the Wnt pathway was recently found to be perturbed in a zebrafish model of Cornelia de Lange syndrome. Mutations in cohesin complex genes and regulators have also been identified in several types of cancers. On the other hand, there is no clear evidence of an increased risk of cancer in Cornelia de Lange syndrome, and no other similar cases have been published since the fist one reported by Cohen, and this prompts to think Wilms tumor and Cornelia de Lange syndrome occurred together in our patient by chance

  2. Telomerase reverse transcriptase promoter mutations in glandular lesions of the urinary bladder.

    Science.gov (United States)

    Vail, Eric; Zheng, Xiaoyong; Zhou, Ming; Yang, Ximing; Fallon, John T; Epstein, Jonathan I; Zhong, Minghao

    2015-10-01

    Glandular lesions of the urinary bladder include a broad spectrum of entities ranging from completely benign to primary and secondary malignancies. The accurate diagnosis of these lesions is both important and challenging. Recently, studies suggest that telomerase reverse transcriptase (TERT) promoter mutations could be a biomarker for urothelial carcinoma (UC). We hypothesized that these mutations can distinguish UC with glandular differentiation from nephrogenic adenoma, primary adenocarcinoma of the urinary bladder (PAUB), or secondary malignancies. Twenty-five cases of benign glandular lesions (including nephrogenic adenoma); 29 cases of UC with glandular differentiation; 10 cases of PAUB; and 10 cases each of metastatic colon cancer, prostatic carcinoma, and carcinoma from Mullerian origin were collected. Slides were reviewed and selected to make sure the lesion was at least 10% to 20% of all tissue. Macrodissection was performed in some of cases, and genomic DNA was extracted from the tissue. Telomerase reverse transcriptase promoter mutations were determined by standard polymerase chain reaction sequencing. Twenty-one cases (72%) of UC with glandular differentiation were positive for TERT promoter mutations. However, none of the remaining cases (total 65 cases of benign lesions, PAUB, and metastatic carcinomas) was positive for TERT promoter mutation. Telomerase reverse transcriptase promoter mutations were highly associated with UC including UC with glandular differentiation but not other glandular lesions of bladder. Therefore, in conjunction with morphologic features, Immunohistochemistry stain profile, and clinical information, TERT promoter mutations could distinguish UC with glandular differentiation from other bladder glandular lesions. In addition, lack of TERT promoter mutations in primary adenocarcinoma of bladder suggests that this entity may have different origin or carcinogenesis from those of UC. Published by Elsevier Inc.

  3. Bilateral disease and new trends in Wilms tumour

    International Nuclear Information System (INIS)

    Owens, Catherine M.; Olsen, Oeystein E.; Brisse, Herve J.; Begent, Joanna; Smets, Anne M.

    2008-01-01

    Wilms tumour is a great therapeutic success story within paediatric oncology; its prognosis is excellent. Although mainly sporadic, occurring in otherwise well children, it occurs in a small number of genetically predisposed children. Thus regular surveillance imaging is performed in predisposed children in parts of the USA and Europe. The risks and benefits of surveillance are unclear, as the existing ad-hoc surveillance protocols are lacking in consistency of practice and equity of provision. We present guidelines for Wilms tumour surveillance based on a review of current practice and available evidence, outlined by a multidisciplinary working group in the UK. Wilms tumours are bilateral in 4-13% of affected children. Bilateral synchronous nephroblastomas are observed in 5% of affected children and are usually associated with the presence of nephrogenic rests, congenital malformations and predisposing syndromes. The major challenge in bilateral disease is to achieve a cure and at the same time to preserve sufficient functional renal tissue for normal growth and development. The association among Wilms tumour, nephrogenic rests and nephroblastomatosis makes detection and characterization of renal lesions with imaging extremely important. We discuss the relative strengths and weaknesses of the different modalities used for diagnosis and follow-up in bilateral renal disease. We also discuss newly emerging diagnostic imaging tests such as 18 F-fluorodeoxyglucose positron emission tomography (FDG-PET). This technique, when fused with CT (PET-CT), allows accelerated metabolic activity to be accurately anatomically localised and so is potentially useful for staging, assessment of treatment response, and for surgical and radiotherapy planning. In addition, quantitative MRI techniques have been proved to be valuable in intracranial tumours, but no such role has been validated in abdominal disease. Diffusion-weighted imaging with calculation of ADC maps is feasible in

  4. Aquagenic keratoderma associated with a mutation of the cystic fibrosis gene

    Directory of Open Access Journals (Sweden)

    V. Coelho-Macias

    2013-05-01

    Full Text Available Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR has been highlighted.The authors describe an 18-year-old female, with one-month complaints of pruritus and swelling of palmar skin after water immersion. On examination, palmar skin was unremarkable but, 5 min after water immersion, multiple whitish papules became apparent. CFTR genotype study showed a F508del mutation in one allele (nonhomozygous. She had no other symptoms and no relevant family history.Aquagenic keratoderma is probably an under-diagnosed entity that might represent a manifestation of CFTR mutations, making carrier state identification and genetic counseling possible. Resumo: Descrita em 1996, a acroqueratodermia aquagénica é uma entidade rara, caracterizada pelo aparecimento de pápulas edematosas palmares após contacto com água. Múltiplas associações foram enumeradas mas, recentemente, a associação a mutações do gene da fibrose quística foi demonstrada.Descreve-se o caso de uma mulher de 18 anos, saudável, com prurido e edema palmar após imersão em água. O exame objetivo inicial não mostrava alterações mas, 5 min após imersão em água, observavam-se múltiplas pápulas esbranquiçadas palmares. O estudo do gene da fibrose quística (CFTR revelou uma mutação F508del num dos alelos. A doente negava outras queixas ou história familiar relevante.A acroqueratodermia aquagénica é uma entidade provavelmente subdiagnosticada que poderá constituir uma manifestação de mutações do gene CFTR, o que possibilitaria a identificação de portadores e aconselhamento genético. Keywords: Aquagenic keratoderma, Cystic fibrosis, Genetic counseling, Palavras-chave: Acroqueratodermia aquagénica, Fibrose qu

  5. Pneumonite intersticial não específica: entidade clínico-patológica, padrão histológico ou apenas grupo heterogéneo de pneumonites intersticiais não classificadas?

    Directory of Open Access Journals (Sweden)

    António Morais

    2004-07-01

    Full Text Available RESUMO: A pneumonite intersticial não específica (NSIP, descrita pela primeira vez em 1994 por Katzenstein e Fiorelli, apresenta-se como uma eventual entidade clínico-patológica individualizável dentro do grupo das pneumonites intersticiais idiopáticas (IIP. Aliada a alterações histológicas distintas, apresentauma evolução clínica mais favorável, com consequente melhor prognóstico do que a fibrose pulmonar idiopática (IPF, grupo onde geralmente estas alterações eram incluídas. Estas diferenças levam a que, apesar das dúvidas que ainda envolvem a NSIP, o seu reconhecimento seja importante, uma vez que as atitudes clínicas e terapêuticas se diferenciam da IPF. A NSIP engloba padrões histológicos diferentes, dividindo-se nomeadamente em casos de predomínio inflamatório (tipo celular ou de predomínio fibroso (tipo fibrosante, com os últimos a evidenciarem uma maior gravidade e pior prognóstico do que os primeiros. Os autores descrevem dois casos de NSIP, seguidos de uma revisão e discussão do tema.REV PORT PNEUMOL 2004; X (4: 331-345 ABSTRACT: Nonspecific interstitial pneumonitis (NSIP initially described by Katzenstein and Fiorelli in 1994, seems to be a distinct clinicopathologic entity among idiopathic interstitial pneumonitis (IIP. Besides different histologic features from other IIP, NSIP is characterized by a better long-term outcome, associated with a better steroids responsiveness than idiopathic pulmonar fibrosis (IPF, where usually were included. Thus, differentiating NSIP from other IIP, namely IPF is very significant, since it has important therapeutic and prognostic implications. NSIP encloses different pathologies, namely those with inflammatory predominance (cellular subtype or fibrous predominance (fibrosing subtype. NSIP is reviewed and discussed by the authors, after two clinical cases description.REV PORT PNEUMOL 2004; X (4: 331-345 Palavras chave: pneumonites intersticiais idiopáticas, pneumonite

  6. The effect of prophylactic dose of a low molecular weight heparin on skin wound healing of rats Efeito da dose profilática de heparina de baixo peso molecular na cicatrização de feridas na pele de ratos

    Directory of Open Access Journals (Sweden)

    Ozdamar Fuad Oken

    2009-12-01

    Full Text Available PURPOSE: To investigate the effect of prophylactic dose of a low molecular weight heparin, enoxaparin, on skin wound healing of rats. METHODS: Forty rats were used for the study. Rats were randomly assigned to two equal groups. Experimental group received prophylactic dose of enoxaparin. Physiologic saline was administered to the control group. Parameters of wound healing of experimental and control groups were compared. For comparison of the groups in terms of fibrosis, vascularization, inflammation, epithelization, and tensile strength test (Newton. Mann-Whitney-U test was used because variables were categorical data (fibrosis, vascularization, inflammation and epithelization. Differences between groups were analyzed with independent samples t-test (tensile strength. Significance was set at pOBJETIVO: Investigar o efeito de dose profilática da heparina de baixo peso molecular, enoxaparina, na cicatrização de feridas na pele de ratos. MÉTODOS: Quarenta ratos foram utilizados para o estudo. Ratos foram distribuídos aleatoriamente a dois grupos iguais. O grupo experimental recebeu profilática de enoxaparina. Solução salina fisiologica foi administrada ao grupo controle. Foram comparados parâmetros de cicatrização dos grupos experimental e controle.Os grupos foram comparados em termos de fibrose, vascularização, inflamação, epitelização e força tensil (teste de Newton. Foi realizado o teste de Mann-Whitney-U para variáveis com dados categóricos (fibrose, cicatrização, inflamação e epitelização. Diferenças entre os grupos foram analisadas como amostras independentes pelo t-teste (força tensil. Significância foi fixada para p < 0,05. RESULTADOS: A ferida do grupo experimental apresentou força tensil diminuída significativamente (p < 0,001, o exame histopatológico revelou um significativo (p < 0,001 retardo na epitelização e diminuição na fibrose, cicatrização, inflamação (p < 0,001 no grupo experimental

  7. MÉTODO DE INDUÇÃO DE CIRROSE BILIAR SECUNDÁRIA COM USO DE PRÓTESE DE SILICONE METHOD FOR THE EXPERIMENTAL INDUCTION OF SECUNDARY BILIARY CIRRHOSIS IN WISTAR RATS

    Directory of Open Access Journals (Sweden)

    A. A. L. de Araujo Lima

    2001-01-01

    Full Text Available O objetivo deste experimento foi o desenvolvimento de um modelo de obstrução do ducto biliar comum através da interposição de uma prótese de silicone extrínseca ao ducto com única ligadura sem secção. Desenvolveu-se um modelo experimental alternativo, em ratos Wistar, que provoca a interrupção do fluxo bílio-duodenal com resultado satisfatório, pois houve distorção da arquitetura hepática, caracterizada por fibrose e proliferação ductal além de indicadores bioquímicos da colestase.

  8. Novel approach for identification of left ventricle geometry in patients with chronic heart failure, AH and IHD in combination with COPD

    Directory of Open Access Journals (Sweden)

    Potabashniy V.A.

    2016-05-01

    Full Text Available The aim of this study was to examine the direction of change of left ventricle (LV geometry in patients with chronic heart failure (CHF, arterial hypertension (AH and ischemic heart disease (IHD in combination with chronic obstructive pulmonary disease (COPD in dependence on severity of clinical signs of CHF and COPD based on recommendation of American Society of Echocardiography and European Association of Cardiovascular Images (2015. We examined 67 patients with CHF, associated with AH and stable IHD and stable COPD. By the results of this study there were determined different types of left ventricle geometry: concentric LV hypertrophy (LVH, eccentric LVH, mixed LVH, dilated LVH, dependent on blood pressure level, fibrosic and ischemic myocardial changes,, primary predominant disease – AH, IHD or COPD.

  9. Sindrome de Guillain-Barré como manifestação do lupus eritematoso sistêmico: registro de um caso

    Directory of Open Access Journals (Sweden)

    Pedro F. Moreira Filho

    1980-06-01

    Full Text Available É relatado caso de paciente jovem do sexo feminino que apresentou, de modo agudo, quadro de polirradiculoneurite com acometimento de vários nervos cranianos e dissociação albumino-citológica no líquido cefalorraqueano. Os exames complementares mostraram tratar-se de lupus eritematoso sistêmico. A biópsia de nervo periférico revelou diminuição de fibras mielínicas, fibrose do endo e perineuro e hipertrofia da camada média dos vasa-nervorum. Os autores chamam a atenção para a raridade do acometimento do sistema nervoso periférico na vigência da doença lúpica. Acreditam que a síndrome de Guillain-Barré provocada pelo lupus eritematoso sistêmico seria devido a um mecanismo imuno-alérgico.

  10. Early aggressive intra-venous pulse cyclophosphamide therapy for interstitial lung disease in a patient with systemic sclerosis. A case report.

    LENUS (Irish Health Repository)

    Peshin, R

    2009-06-01

    Interstitial lung disease is an important cause of mortality and morbidity in patients with systemic sclerosis (SSc). There are currently no recommended guidelines for management of these patients. This is probably due to the rarity of this condition, as well as clinical trials with only a small number of cases. There are published case report and case series along with the two main trials, viz. Scleroderma Lung Study and the Fibrosing Alveolitis Study, but again, there is no consensus on treatment protocols. In this report, we present a case of aggressive interstitial lung disease in a patient with SSc, which improved dramatically on treatment with intra-venous cyclophosphamide and high dose prednisolone therapy.

  11. Diffuse scarring alopecia in a female pattern hair loss distribution.

    Science.gov (United States)

    Fergie, Bonnie; Khaira, Gurpreet; Howard, Vicki; de Zwaan, Sally

    2018-02-01

    We describe three cases of hair loss in a female pattern hair loss (FPHL) distribution with histologic features of lichen planopilaris (LPP). All patients had a history of diffuse, gradual hair loss in a Christmas tree pattern that clinically presented as FPHL on gross and dermoscopic examination. Notably, there were no characteristic clinical signs of LPP and no histologic features of FPHL. These cases are most consistent with cicatricial pattern hair loss (CPHL). This relatively new entity is similar to fibrosing alopecia in a pattern distribution (FAPD) in that they are both scarring alopecias confined to a FPHL distribution, but CPHL lacks the clinical signs of perifollicular erythema and perifollicular keratosis seen in FAPD. These three cases may present an early, subtle form of CPHL and will be of interest to clinicians and histopathologists alike. © 2017 The Australasian College of Dermatologists.

  12. [Drug treatment of alopecia].

    Science.gov (United States)

    Wolff, H

    2015-10-01

    Alopecia is the term used to describe hairless areas of the scalp. They can follow a specific pattern, be diffuse or circumscript. Androgenetic alopecia (AGA) follows a pattern: in men thinning of temples and vertex up to total baldness; in women thinning of the midline or parietal area. Lack of iron or cytostatic drugs cause diffuse alopecia, while in autoimmune diseases such as alopecia areata or lichen planus bizarre shapes of hairless areas are observed. For therapy, the following medications are used: topical minoxidil solution for AGA of men and women; systemic finasteride 1 mg for men with AGA; topical diphencyprone immunotherapy for alopecia areata; systemic antimycotic agents for tinea capitis; antibiotics such as clindamycin and rifampicin for folliculitis decalvans; systemic corticosteroids and isotretinoin for folliculitis et perifolliculitis capitis abscedens et suffodiens; topical corticosteroids for lichen planus and Kossard's frontal fibrosing alopecia.

  13. Pulmonary Arterial Hypertension: Use of Delayed Contrast-Enhanced Cardiovascular Magnetic Resonance in Risk Assessment

    OpenAIRE

    Bessa, Luiz Gustavo Pignataro; Junqueira, Flávia Pegado; Bandeira, Marcelo Luiz da Silva; Garcia, Marcelo Iorio; Xavier, Sérgio Salles; Lavall, Guilherme; Torres, Diego; Waetge, Daniel

    2013-01-01

    FUNDAMENTO: A hipertensão arterial pulmonar é uma doença grave e progressiva. O maior desafio clínico é seu diagnóstico precoce. OBJETIVO: Avaliar a presença e a extensão do realce tardio miocárdico pela ressonância magnética cardíaca bem como verificar se o percentual da massa de fibrose miocárdica é indicador de gravidade. MÉTODOS: Estudo transversal com 30 pacientes com hipertensão arterial pulmonar dos grupos I e IV, submetidos às avaliações clínica, funcional e hemodinâmica, e à ressonân...

  14. Hipertensão arterial pulmonar: uso do realce tardio miocárdico pela ressonância magnética cardíaca na avaliação de risco

    OpenAIRE

    Bessa, Luiz Gustavo Pignataro; Junqueira, Flávia Pegado; Bandeira, Marcelo Luiz da Silva; Garcia, Marcelo Iorio; Xavier, Sérgio Salles; Lavall, Guilherme; Torres, Diego; Waetge, Daniel

    2013-01-01

    FUNDAMENTO: A hipertensão arterial pulmonar é uma doença grave e progressiva. O maior desafio clínico é seu diagnóstico precoce. OBJETIVO: Avaliar a presença e a extensão do realce tardio miocárdico pela ressonância magnética cardíaca bem como verificar se o percentual da massa de fibrose miocárdica é indicador de gravidade. MÉTODOS: Estudo transversal com 30 pacientes com hipertensão arterial pulmonar dos grupos I e IV, submetidos às avaliações clínica, funcional e hemodinâmica, e à ressonân...

  15. Individual pharmacokinetic variation leads to underdosing of ciprofloxacin in some cystic fibrosis patients

    DEFF Research Database (Denmark)

    Schultz, Anders Nikolai Ørsted; Høiby, N; Nielsen, X C

    2017-01-01

    BACKGROUND: Ciprofloxacin (CIP) is frequently used when treating cystic fibrose (CF) patients with intermittent Pseudomonas aeruginosa (P. aeruginosa) lung colonization. However, approximately 20% of the patients progress to chronic infection despite early intervention. The aim of this study......, was to investigate the pharmacokinetics of CIP, to evaluate if CYP3A4-related metabolism is involved and to find the optimal dose needed to eradicate intermittently colonizing bacteria in the lungs of CF patients. Methods An open-label, prospective pharmacokinetic study was performed. Twenty-two adult CF......-patients were each given 500 mg CIP orally. One blood sample was taken at t = 0, and the following 12 hr, nine blood samples were collected. The optimal dose and interval was then calculated by Monte Carlo simulation. CYP3A4-activity was mesured using the Erythromycin Breath Test (ERMBT). Results A 14-fold...

  16. Changes of bronchoalveolar cell pattern and lecithin content in experimental interstitial pneumonia

    International Nuclear Information System (INIS)

    Manabe, Hideki; Yasuoka, Susumu; Tsubura, Eiro

    1978-01-01

    The pathogenesis of diffuse interstitial fibrosing pneumonitis (DIFP) was studied by histological observations and analysis of the cells and lecithin content of bronchoalveolar lavage of rats with cyclophosphamide (CY)-induced pneumonitis or irradiation pneumonitis. The rats developed diffuse interstitial pneumonitis one week after the last of 5 intraperitoneal injections of 50 mg/kg of CY and gradually recovered in the next 14 weeks. The number of alveolar macrophages and the lecithin content in the bronchoalveolar lavage from these rats corresponded to the degree of inflammatory change of the lung tissue. The results of cell counts and analysis of the bronchoalveolar lavage from rats with irradiated pneumonitis were similar to those on rats with CY-induced pneumonitis, except that in irradiated rats the lecithin content of the lavage decreased with increase in severity of pulmonary fibrosis. These results indicate that the cell number and lecithin content of bronchoalveolar lavage are good parameters for use in diagnosis of DIFP. (auth.)

  17. Study of late effects of lung irradiation with telecobalt on lung function

    International Nuclear Information System (INIS)

    Wolkewitz, J.

    1980-01-01

    Two groups of patients, one with malignant chest tumors before radiation and one more than nine months after radiation treatment of their tumors, are examined by assessment of different lung function parameters. In addition, four patients can be examined both before and more than nine months after radiation treatment for chest tumors. It is seen that the patients whose X-rays show signs of localized radiation fibrosis do not have the typical lung function problems noted in diffuse radiation fibroses. In patients with radiographic signs of localized radiation fibrosis, combined ventilation disturbances of obstruction and restriction type are more frequent and accompanied by a slight increase in the mean pulmonary arterial pressure. These modifications of the lung function cannot solely be attributed to the radiation treatment, as the lung function is also influenced by concomitant pulmonary affections such as chronic bronchitis or renewed growth of the irradiated tumor. (orig.) [de

  18. [Farmer's lung--a form of exogenous allergic alveolitis].

    Science.gov (United States)

    Sambale, M; Liebetrau, G

    1990-11-15

    Exogenic allergic alveolitides are caused by organic dusts which contain bacteria, moulds or vegetable and animal antigens. The farmer's lung as a form of the exogenic allergic alveolitis is a rare disease. The uncharacteristic symptomatology in the initial phase and in particular the retarded beginning of the symptom after several hours handicap the timely recognition in an early phase of the disease so that curative therapeutic measures are rarely possible. The cases of the disease are found only at the chronic stage, at the stage of the pulmonary fibrosis. Then the prognosis is unfavourable. In the Central Clinic for Heart and Lung Diseases Bad Berka 1,110 patients with alveolitides and lung fibroses were diagnosed in the period from 1975 to 1988. 306 of them could be clarified as exogenic allergic alveolitis, 61 of them (19.8%) were farmer's lungs.

  19. Estudo necroscópico de um caso da forma crônica da doença de Chagas com eletrocardiograma e raio-X de tórax normais: referência especial ao sistema excito-condutor do coração

    Directory of Open Access Journals (Sweden)

    Edison Reis Lopes

    1988-06-01

    Full Text Available Descrevem-se as alterações anatomopatológicas observadas na necropsia de chagásico crônico, provavelmente, portador da forma indeterminada da doença. O coração mostrou lesões dos três folhetos e do sistema excito-condutor, traduzidas especialmente por pequenos focos inflamatórios. Havia discreta fibrose do miocárdio contrâtil, nódulo átrio-ventricular e origem do ramo esquerdo do feixe de His. Tais alterações, embora de leve intensidade, assemelham-se, qualitativamente, às relatadas nas demais formas crônicas da doença de Chagas e representam lesões ativas, com potencial evolutivo. No esôfago, observou-se entre outros fatos, despopulação neuronal acentuada.

  20. Uso de macrolídeos em doenças pulmonares: controvérsias da literatura recente

    Directory of Open Access Journals (Sweden)

    Luiz Vicente Ribeiro Ferreira da Silva Filho

    2015-12-01

    Full Text Available Resumo Objetivo: Revisar os mecanismos de ação de macrolídeos em doenças respiratórias pediátricas e as suas indicações clínicas. Fonte de dados: Revisão na base de dados Pubmed, compreendendo os termos em inglês referentes ao tema básico. Síntese dos dados: O seu espectro de ação estende-se desde a produção de mediadores inflamatórios até o controle da hipersecreção de muco e a modulação de mecanismos de defesa do hospedeiro. O potencial benefício dos antibióticos macrolídeos foi estudado em doenças pulmonares como a fibrose cística, as bronquiectasias, a asma, a bronquiolite aguda e as bronquiectasias não ligadas à fibrose cística. Diversos estudos avaliaram os benefícios dos macrolídeos na asma resistente a terapia, porém os resultados são controversos e as indicações devem ser limitadas a fenótipos específicos. Na bronquiolite viral não há benefícios consistentes nos quadros agudos, embora dados recentes mostrem um efeito na prevenção de sibilância recorrente. Em pacientes com fibrose cística os resultados também são contraditórios, mas o consenso é de que há um pequeno benefício clínico, especialmente para os pacientes infectados por P. aeruginosa. Também não foi observada ação positiva dos macrolídeos em pacientes com bronquiolite obliterante pós-infecciosa. Crianças com bronquiectasias não relacionadas à fibrose cística parecem ter claros benefícios em relação ao uso de macrolídeos, os quais mostraram vantagens clínicas, de proteção ao parênquima e na função pulmonar. Conclusões: O uso em longo prazo de macrolídeos deve ser limitado a situações altamente selecionadas, especialmente em pacientes com bronquiectasias. Avaliação cuidadosa dos benefícios e potenciais danos são ferramentas para indicação em grupos específicos.