WorldWideScience

Sample records for nephrogenic fibrosing dermopathy

  1. Nephrogenic systemic fibrosis; Nephrogene systemische Fibrose

    Energy Technology Data Exchange (ETDEWEB)

    Samtleben, W. [Klinikum Grosshadern der Ludwig-Maximilians-Universitaet Muenchen, Schwerpunkt Nephrologie,Medizinische Klinik und Poliklinik I, Muenchen (Germany)

    2007-09-15

    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) <30 ml/min per 1.73 m{sup 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 <30 ml/min per 1.73 m{sup 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.) [German] Ein neues, Skleromyxoedem-aehnliches Krankheitsbild wurde erstmals 1997 beobachtet und im Jahre 2000 publiziert. Es trat nur bei Patienten mit eingeschraenkter Nierenfunktion (glomerulaere Filtrationsrate [GFR] <30 ml/min/1,73 m{sup 2}) auf, weshalb der Terminus nephrogene fibrosierende Sklerose gewaehlt wurde. Erst 2006 konnte ein

  2. Nephrogenic systemic fibrosis (NSF) - implications for radiology; Nephrogene systemische Fibrose (NSF) - Implikationen fuer die Radiologie

    Energy Technology Data Exchange (ETDEWEB)

    Michaely, H.J.; Schoenberg, S.O. [Klinikum Mannheim der Universitaet Heidelberg, Institut fuer Klinische Radiologie, Mannheim (Germany); Klinikum Grosshadern der Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Muenchen (Germany); Thomsen, H.S. [Copenhagen University, Hospital at Herlev, Kopenhagen (Denmark); Reiser, M.F. [Klinikum Grosshadern der Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Muenchen (Germany)

    2007-09-15

    Nephrogenic systemic fibrosis (NSF) is a systemic disease with a 5% mortality which was first described in 1997 and which only occurs in patients with severely impaired renal function (GFR <30 ml/min per 1.73 m{sup 2}) and for which an association with previous administration of several Gd-chelates has been observed. According to retrospective case control studies the odds ratio for a patient with severely impaired renal function to develop NSF was increased by a factor of 22-32 when gadodiamide was administered. At this time there are approximately 250 confirmed cases of NSF of which 177 are associated with the administration of gadodiamide and 78 are associated with gadopentetate dimeglumine. This review article elucidates the postulated pathogenesis of NSF and provides an overview of the published statements and recommendations from international regulatory authorities and from international advisory boards. Even though the pathogenesis is not completely understood at this time, the European Pharmacovigilance Working Party has decided that gadodiamide and gadopentetate dimeglumine must not be used in high-risk patients. Other Gd-containing contrast agents should only be administered after thorough assessment of the indication and with minimized Gd dose. In the USA, the FDA has issued a black box warning for Gd-containing contrast agents. (orig.) [German] Die nephrogene systemische Fibrose (NSF) ist eine 1997 erstmals beschriebene systemische Erkrankung mit einer 5%igen Mortalitaet, die bislang ausschliesslich bei Patienten mit terminaler Niereninsuffizienz (glomerulaere Filtrationsrate [GFR] <30 ml/min/1,73 m{sup 2}) aufgetreten ist und fuer die eine Assoziation mit der vorherigen Verabreichung verschiedener Gadolinium- (Gd-)haltiger MR-Kontrastmittel beobachtet wurde. Laut retrospektiver Fall-Kontroll-Studien war die Odds Ratio fuer die Entwicklung einer NSF bei Patienten mit stark eingeschraenkter Nierenfunktion 22- bis 32-fach hoeher, wenn Gadodiamid

  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...... of knowledge about the possible association between GBCA and NSF. NSF is found among Japanese end-stage renal failure patients even after examinations using a single dose....

  4. 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...

  5. 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

  6. 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

  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. Restrictive dermopathy and fetal behaviour

    NARCIS (Netherlands)

    Mulder, EJH; Beemer, FA; Stoutenbeek, P

    We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1-4 week intervals. Dramatic and sudden changes occurred in fetal body movements and

  9. Kava dermopathy in Fiji: an acquired ichthyosis?

    Science.gov (United States)

    Hannam, Sarah; Murray, Michael; Romani, Lucia; Tuicakau, Meciusela; J Whitfeld, Margot

    2014-12-01

    Kava dermopathy is a common cutaneous effect of regular or heavy use of Kava, a psychoactive beverage consumed widely throughout the Pacific. In Fiji in 2012, over 1000 study participants underwent full skin examination, and kava dermopathy was a common cutaneous finding. The clinical manifestations of kava dermopathy share similarities with the spectrum of autosomal recessive congenital ichthyoses, predominantly lamellar ichthyosis. The pathogenesis of Kava dermopathy may be associated with a functional defect in one or more cytochrome P450 enzymes implicated in epidermal integrity, thus mimicking the genetic defect as seen in lamellar ichthyosis type 3. © 2014 The International Society of Dermatology.

  10. Nephrogenic systemic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Martin, Diego R. [Emory University Hospital, Department of Radiology, Atlanta, GA (United States)

    2008-01-15

    Nephrogenic systemic fibrosis (NSF) is a dermatological fibrosing disease with potential systemic manifestations resulting in mild to severe symptoms including joint contractures. NSF can be lethal in a subset of cases. It has been recently observed that almost all patients with NSF have had severe renal insufficiency and have received prior administrations of gadolinium-based contrast agents (GBCA). This review will focus on the specific evidence from a retrospective study performed at our center in combination with the general experience available. Conclusions summarize our current understanding of NSF. Recommendations are provided for use of GBCA in clinical MRI practice. Conclusions and recommendations include that the risk of inducing NSF is related to higher-dose administrations of GBCA and that there are differences in risk related to differences in gadolinium-chelate formulation, with the highest relative risk associated with gadodiamide (Omniscan, Nycomed Amersham, GE Healthcare, Piscataway, N.J.). (orig.)

  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. Nephrogenic systemic fibrosis: More questions and some answers

    DEFF Research Database (Denmark)

    Morcos, S.K.; Thomsen, Henrik S.

    2008-01-01

    Nephrogenic systemic fibrosis (NSF) is a fibrosing disorder that may develop in patients who have advanced reduction in renal function. A causal relation between gadolinium (Gd3+)-based contrast agents (Gd-CA) and NSF is probable and is supported by the accumulating data in the literature. From t...

  13. 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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  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 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.

  16. 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...

  17. 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 that gado...

  18. Nephrogenic systemic fibrosis: More questions and some answers

    DEFF Research Database (Denmark)

    Morcos, S.K.; Thomsen, Henrik S.

    2008-01-01

    those data, the prevalence of NSF is seen to be significantly higher after exposure to gadodiamide than any other gadolinium-based agent. Gd-CA are either linear or macrocyclic chelates and are available as ionic or non-ionic preparations. The molecular structure, whether cyclic or linear......-macrocyclic chelate Gd-DOTA and the least stable agents are the non-ionic linear chelates gadodiamide and gadoversetamide. The stability of Gd-CA seems to be an important factor in the pathogenesis of NSF. Gd-CA of low stability are likely to undergo transmetallation and release free Gd ions that may deposit......Nephrogenic systemic fibrosis (NSF) is a fibrosing disorder that may develop in patients who have advanced reduction in renal function. A causal relation between gadolinium (Gd3+)-based contrast agents (Gd-CA) and NSF is probable and is supported by the accumulating data in the literature. From...

  19. 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 that gadoli......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...

  20. A study on the association of diabetic dermopathy with nephropathy and retinopathy in patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Mirhoseini, Mahmoud; Saleh, Nasrin; Momeni, Ali; Deris, Fatemeh; Asadi-Samani, Majid

    2016-10-01

    Diabetic dermopathy is one of the most prevalent skin complications in diabetes patients. Some studies have pointed to association of diabetic dermopathy with retinopathy and nephropathy in patients with type 2 diabetes as microangiopathy presentations, but no rigorous study has been conducted to confirm this association. This study investigated association of diabetic dermopathy with nephropathy and retinopathy in patients with type 2 diabetes referring specialty clinic of Shahrekord. This descriptive, cross-sectional study was conducted on 102 type 2 diabetes patients with dermopathy referring clinic constantly or as outpatient. Dermatological and ophthalmological examinations and examination for nephropathy were done for all patients. Demographic data and results of examinations and patients history, and biochemical tests were gathered and recorded by researcher developed checklists. Mean age of patients was 83.8 2.60 years, of whom 64 (63.7%) were female and 37.3% were male. Prevalence of retinopathy in patients was 4.31% and nephropathy 3.33%. In this study, significant associations of diabetic dermopathy with diabetic nephropathy ( P = 0.001), with retinopathy ( P diabetes (P = 0.001), and also with glycosylated hemoglobin ( P diabetic dermopathy and other studied variables was seen ( P > 0.05). Results of this study confirm the association of diabetic dermopathy with retinopathy and nephropathy in patients with type 2 diabetes. Since dermopathy is usually developed before retinopathy and nephropathy, dermopathy could be used as a clinical finding in early diagnosis and prevention of retinopathy and nephropathy in diabetes patients.

  1. 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 that gadoli...

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

    Science.gov (United States)

    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

  3. 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

  4. 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.

  5. Nephrogenic diabetes insipidus: treat with caution.

    Science.gov (United States)

    Boussemart, Thierry; Nsota, Jacqueline; Martin-Coignard, Dominique; Champion, Gérard

    2009-09-01

    Current therapy for congenital nephrogenic diabetes insipidus consists of appropriate water intake coupled with decreased urine output obtained by means of a low-sodium diet and a combination of thiazide diuretics with renal prostaglandins inhibitors or amiloride. We report a case of congenital nephrogenic diabetes insipidus that was complicated by paradoxical water intoxication secondary to liberal water intake and the initiation of hydrochlorothiazide and indomethacin combination therapy. This report emphasizes the importance of evaluating the water balance and of a quick response with strict protocols following the initiation of indomethacin and thiazide diuretics in nephrogenic diabetes insipidus.

  6. Nephrogenic ascites - Still an intractable problem?

    Directory of Open Access Journals (Sweden)

    Shobhana Nayak-Rao

    2015-01-01

    Full Text Available Nephrogenic ascites or ascites associated with renal failure is seen in end-stage renal disease in-patients on hemodialysis but has been described occasionally in earlier stages of renal failure. The cause can be multifactorial and a combination of inadequate dialysis and ultrafiltration, poor nutrition and increased peritoneal membrane permeability in uremia. Generally, the onset of nephrogenic ascites is insidious and portends a grim long-term prognosis. We describe herein three patients who presented with refractory ascites of nephrogenic origin and review this entity.

  7. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

    NARCIS (Netherlands)

    Navarro, Claire L.; Cadiñanos, Juan; de Sandre-Giovannoli, Annachiara; Bernard, Rafaëlle; Courrier, Sébastien; Boccaccio, Irène; Boyer, Amandine; Kleijer, Wim J.; Wagner, Anja; Giuliano, Fabienne; Beemer, Frits A.; Freije, Jose M.; Cau, Pierre; Hennekam, Raoul C. M.; López-Otín, Carlos; Badens, Catherine; Lévy, Nicolas

    2005-01-01

    Restrictive dermopathy (RD) is characterized by intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles, arthrogryposis and early neonatal death. In two patients affected with RD, we recently reported two different

  8. 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

  9. 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.

  10. Pemetrexed-Induced Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Fung, Enrica; Anand, Shuchi; Bhalla, Vivek

    2016-10-01

    Pemetrexed is an approved antimetabolite agent, now widely used for treating locally advanced or metastatic nonsquamous non-small cell lung cancer. Although no electrolyte abnormalities are described in the prescribing information for this drug, several case reports have noted nephrogenic diabetes insipidus with associated acute kidney injury. We present a case of nephrogenic diabetes insipidus without severely reduced kidney function and propose a mechanism for the isolated finding. Severe hypernatremia can lead to encephalopathy and osmotic demyelination, and our report highlights the importance of careful monitoring of electrolytes and kidney function in patients with lung cancer receiving pemetrexed. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  11. 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...

  12. 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...

  13. Polysomnography in idiopathic muscle pain syndrome (fibrositis)

    OpenAIRE

    Silva, A. B.; Bertoríni, T. E.; Lemmi, H.

    1991-01-01

    Muscle pain occurs in various neuromuscular disorders with characteristic physiological or biochemical abnormalities. There is, however, a group of patients in whom there is no clear physiological or structural basis for their pains. This syndrome has been called fibrositis or fibromyalgia. Sleep abnormalities have been reported in some of these patients, but have not been confirmed by others. We studied 8 patients with this disorder and found sleep abnormalities that were characterized by no...

  14. Nephrogenic systemic fibrosis: clinical picture and treatment

    DEFF Research Database (Denmark)

    Marckmann, Peter; Skov, Lone

    2009-01-01

    The classic hallmark symptoms of advanced nephrogenic systemic fibrosis (NSF) (skin thickening, hardening and hyperpigmentation, and disabling contractures in renal failure patients) in temporal association with Gd-based contrast agent (GBCA) exposure are almost pathognomonic of NSF. Less obvious...... cases may be diagnosed on the basis of history of early GBCA-related NSF symptoms (warm swellings, pain, discoloration, itching of lower legs), signs of multiorgan involvement (lungs, nervous system), the exclusion of differential diagnoses, including scleromyxedema and systemic sclerosis...

  15. 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.

  16. Gadolinium Deposition in Nephrogenic Systemic Fibrosis: An Examination of Tissue using Synchrotron X-ray Fluorescence Spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    High, W.; Ranville, J; Brown, M; Punshon, T; Lanzirotti, A; Jackson, B

    2010-01-01

    Nephrogenic systemic fibrosis is a fibrosing disorder associated with gadolinium (Gd)-based contrast agents dosed during renal insufficiency. In two patients, Gd deposition in tissue affected by nephrogenic systemic fibrosis was quantified using inductively coupled plasma mass spectrometry. The presence of Gd was confirmed and mapped using synchrotron x-ray fluorescence spectroscopy. Affected skin and soft tissue from the lower extremity demonstrated 89 and 209 ppm ({micro}g/g, dry weight, formalin fixed) in cases 1 and 2, respectively. In case 2, the same skin and soft tissue was retested after paraffin embedding, with the fat content removed by xylene washes, and this resulted in a measured value of 189 ppm ({micro}g/g, dry weight, paraffin embedded). Synchrotron x-ray fluorescence spectroscopy confirmed Gd in the affected tissue of both cases, and provided high-sensitivity and high-resolution spatial mapping of Gd deposition. A gradient of Gd deposition in tissue correlated with fibrosis and cellularity. Gd deposited in periadnexal locations within the skin, including hair and eccrine ducts, where it colocalized to areas of high calcium and zinc content. Because of the difficulty in obtaining synchrotron x-ray fluorescence spectroscopy scans, tissue from only two patients were mapped. A single control with kidney disease and gadolinium-based contrast agent exposure did not contain Gd. Gd content on a gravimetric basis was impacted by processing that removed fat and altered the dry weight of the specimens. Gradients of Gd deposition in tissue corresponded to fibrosis and cellularity. Adnexal deposition of Gd correlated with areas of high calcium and zinc content.

  17. Bacteriologia da Fibrose Cística

    Directory of Open Access Journals (Sweden)

    Larissa Lutz

    2011-07-01

    Full Text Available O exame bacteriológico é um dos principais parâmetros que auxiliam o diagnóstico e manuseio da infecção respiratória dos pacientes com Fibrose Cística (FC. Os microrganismos que colonizam e infectam o paciente fibrocístico determinam o tratamento, a qualidade de vida, as perspectivas para o transplante e a sua sobrevida global. A identificação precisa de patógenos respiratórios é essencial para o tratamento da infecção, seja como guia para o uso adequado de antibióticos por longos períodos para os pacientes com infecção bacteriana crônica ou para a aplicação adequada de medidas de controle de infecção. Embora exista um espectro limitado de patógenos respiratórios classicamente associados à doença respiratória na FC, um número crescente de microrganismos vem sendo reconhecido como potenciais agentes patogênicos. O espectro de patógenos em FC varia com a idade do paciente mas, de uma forma geral, é bem estabelecido na literatura que existem quatro bactérias “clássicas”: Staphylococcus aureus, Haemophilus influenzae, Pseudomonas aeruginosa e o complexo B. cepacia (CBC. A maior sobrevida dos pacientes fibrocísticos os quais são submetidos a ciclos repetidos de antibióticos bem como o uso de novas metodologias de diagnóstico microbiológico contribuíram para o reconhecimento de patógenos emergentes ou “não-clássicos”.

  18. Prevalence of nephrogenic systemic fibrosis in renal insufficiency patients: Results of the FINEST study

    Energy Technology Data Exchange (ETDEWEB)

    Janus, Nicolas [Department of Nephrology, Pitie-Salpetriere Hospital, 83 boulevard de l' Hopital, 75013 Paris (France)], E-mail: nicolas.janus@psl.aphp.fr; Launay-Vacher, Vincent; Karie, Svetlana [Department of Nephrology, Pitie-Salpetriere Hospital, 83 boulevard de l' Hopital, 75013 Paris (France); Clement, Olivier [Department of Radiology, Georges Pompidou European Hospital, Paris (France); Ledneva, Elena [Department of Nephrology, Pitie-Salpetriere Hospital, 83 boulevard de l' Hopital, 75013 Paris (France); Frances, Camille [Department of Dermatology, Tenon Hospital, Paris (France); Choukroun, Gabriel [Department of Nephrology, Amiens University Hospital, Amiens (France); Deray, Gilbert [Department of Nephrology, Pitie-Salpetriere Hospital, 83 boulevard de l' Hopital, 75013 Paris (France)

    2010-02-15

    Purpose: Nephrogenic systemic fibrosis (NSF) is characterized by widespread tissue fibrosis, mainly affecting the skin. Gadolinium chelates have been implicated in the onset of NSF in patients with renal impairment (RI). The FINEST study (FIbrose Nephrogenique SysTemique) was designed to determine the prevalence of NSF after magnetic resonance imaging (MRI) in French RI patients. Materials and methods: We studied all patients with RI who had at least one MRI examination during a one-year period, with or without gadolinium chelate administration. Data were collected retrospectively from 9 Nephrology Departments in France, and included sex, age, renal function, type of gadolinium administered, and subsequent cutaneous disorders. If a patient presented a cutaneous disorder, a skin biopsy was performed to confirm the diagnostic. Results: The 308 eligible patients had a mean age of 59.9 years, 59% were men, and 54% had stage 5 RI. 75% of those 308 patients received a Gadolinium chelate. Among those patients who received a gadolinium chelate, 76% received gadoterate, 20% gadopentetate, 3% gadodiamide and 1% gadobenate. No cutaneous disorders were recorded after MRI. Conclusion: These results confirm that NSF is a rare disease. Based on a reported frequency, {approx}3.5% in patients with glomerular filtration rate <30 ml/min/1.73 m{sup 2}), some cases should have been observed in our study which included 308 patients. Most patients received gadoterate, a macrocyclic gadolinium chelate for which no case of NSF has been observed worldwide. This suggests that more stable macrocyclic agents may be less likely to induce NSF.

  19. "Efeito da colchicina na fibroses hepatica induzida quimicamente em coelhos"

    OpenAIRE

    Clodomir Garcia Brandão

    1999-01-01

    Resumo: O desenvolvimento de fibrose é um ponto fundamental na formação da cirrose hepática e sua compreensão é essencial para o entendimento da fisiopatologia da cirrose e da conseqüente hipertensão portal. Assim, o desenvolvimento de um modelo experimental adequado de fibrose hepática é útil para o entendimento das enfermidades que podem evoluir para a cirrose hepática. A colchicina tem sido usada em pacientes com cirrose hepática mas efeitos não são totalmente conhecidos. Este estudo teve ...

  20. 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 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...... reviewed. KEY POINTS : • Clinical features, risk factors and prevention of nephrogenic systemic fibrosis are reviewed • Patients with GFR below 30 ml/min/1.73 m ( 2 ) have increased risk of developing NSF • Low stability gadolinium contrast media show the strongest association with NSF • Following...

  1. Nephrogenic systemic fibrosis an unsolved riddle.

    Science.gov (United States)

    Graziani, Giorgio; Montanelli, Alessandro; Brambilla, Simona; Balzarini, Luca

    2009-01-01

    Nephrogenic systemic fibrosis (NSF) is an emergent scleroderma-like disease progressively inducing a skin and joint severe dermal fibrosis. Until now there have been about 215 cases reported in NSF registry, linked to the use of Gadolinium as contrast agent for Magnetic Resonance. The pathogenesis of NSF is unexplained, and the factor or factors triggering the onset of the disease are a matter of debate. The toxic Gd effect on tissues of uremic patients may be linked to the long Gd half-life. Alternatively, according to the transmetallation theory, Gd may easily be released from linear versus cyclic chelating agents exchanged with other metals. Despite many studies indicating exposure to Gd in end-stage renal disease (ESRD) or hemodialysis as a trigger of NSF, a certain cause-effect relationship has still not been found. Other epidemiological studies report cases of NSF without previous Gd infusion. Another intriguing hypothesis is the possible role of lanthanum carbonate, which like Gd is a rare earth element. The lanthanum toxicity theory may explain the diffusion of Gd-induced NSF only in countries where the use of lanthanum carbonate was introduced some years ago (e.g., United States and northern Europe). In spite of the tight linkage reported between Gd infusion and NSF occurrence in ESRD and HD patients,the prevalence of this dermal severe disease ranges from 0.4 to 0.7%. Therefore the nephrologist, must keep this in mind and advise patients that the risk of renal impairement induced by iodinated contrast media infusion, is exceedingly more elevated than the occurrence of Gd-induced NSF which is below 1%.

  2. Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.

    NARCIS (Netherlands)

    Robben, J.H.; Deen, P.M.T.

    2007-01-01

    The antidiuretic hormone arginine-vasopressin regulates water homeostasis in the human body by binding to its vasopressin type 2 receptor (V2R). Mutations in AVPR2, the gene encoding V2R, lead to the X-linked congenital form of nephrogenic diabetes insipidus (NDI), a disease characterized by the

  3. 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.

  4. Nephrogenic Diabetes Insipidus with Intracranial Calcifications in a ...

    African Journals Online (AJOL)

    Introduction: There are numerous causes for intracranial calcification in children. We describe an unusual cause of intracranial calcifications in a child, namely, nephrogenic diabetes insipidus (NDI). Case Report: A 12-year-old boy presented with seizures and developmental delay. MRI of the brain revealed intracranial ...

  5. 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.

  6. 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.

  7. [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.

  8. 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.

  9. Fuzheng Huayu recipe prevents nutritional fibrosing steatohepatitis in mice

    Directory of Open Access Journals (Sweden)

    Jia Yan-Hong

    2012-03-01

    Full Text Available Abstract Background Fuzheng Huayu recipe (FZHY, a compound of Chinese herbal medicine, was reported to improve liver function and fibrosis in patients with hepatitis B virus infection. However, its effect on nutritional fibrosing steatohepatitis is unclear. We aimed to elucidate the role and molecular mechanism of FZHY on this disorder in mice. Methods C57BL/6 J mice were fed with methionine-choline deficient (MCD diet for 8 weeks to induce fibrosing steatohepatitis. FZHY and/or heme oxygenase-1 (HO-1 chemical inducer (hemin were administered to mice, respectively. The effect of FZHY was assessed by comparing the severity of hepatic injury, levels of hepatic lipid peroxides, activation of hepatic stellate cells (HSCs and the expression of oxidative stress, inflammatory and fibrogenic related genes. Results Mice fed with MCD diet for 8 weeks showed severe hepatic injury including hepatic steatosis, necro-inflammation and fibrosis. Administration of FZHY or hemin significantly lowered serum levels of alanine aminotransferase, aspartate aminotransferase, reduced hepatic oxidative stress and ameliorated hepatic inflammation and fibrosis. An additive effect was observed in mice fed MCD supplemented with FZHY or/and hemin. These effects were associated with down-regulation of pro-oxidative stress gene cytochrome P450 2E1, up-regulation of anti-oxidative gene HO-1; suppression of pro-inflammation genes tumor necrosis factor alpha and interleukin-6; and inhibition of pro-fibrotic genes including α-smooth muscle actin, transforming growth factor beta 1, collagen type I (Col-1 and Col-3. Conclusions Our study demonstrated the protective role of FZHY in ameliorating nutritional fibrosing steatohepatitis. The effect was mediated through regulating key genes related to oxidative stress, inflammation and fibrogenesis.

  10. Fibrose Cística: Diagnóstico e Tratamento

    Directory of Open Access Journals (Sweden)

    Anneliese Hoffmann

    2011-07-01

    Full Text Available Fibrose Cística, também chamada de mucoviscidose, é uma doença crônica, de origem genética, causada por um gene defeituoso herdado do pai e outro da mãe. Não é, portanto, uma doença contagiosa. O defeito genético faz com que todas as glândulas secretoras do corpo sejam afetadas. É por este motivo que o suor é salgado, o muco que reveste as vias aéreas é mais espesso e a bile também é mais viscosa.

  11. Development and validation of the Frontal Fibrosing Alopecia Severity Score.

    Science.gov (United States)

    Saceda-Corralo, David; Moreno-Arrones, Óscar Muñoz; Fonda-Pascual, Pablo; Pindado-Ortega, Cristina; Buendía-Castaño, Diego; Alegre-Sánchez, Adrián; Segurado-Miravalles, Gonzalo; Rodrigues-Barata, Ana Rita; Jaén-Olasolo, Pedro; Vaño-Galván, Sergio

    2018-03-01

    Frontal fibrosing alopecia (FFA) is a scarring alopecia characterized by recession of the frontotemporal hairline and loss of the eyebrows. To design and validate a scoring system to assess the severity of FFA. The Frontal Fibrosing Alopecia Severity Score (FFASS) was developed; criterion validity was assessed by the Investigator's Global Assessment, and construct validity was evaluated by the convergence of other measures of severity (the Patient's Global Assessment], the rest of the clinical features, the Lichen Planopilaris Activity Index, and quality of life measures (Dermatology Life Quality Index and Hospital Anxiety Depression Scale). Intraobserver and interobserver reliability were determined. In total, 103 female patients were included. The FFASS showed significant correlation to the Patient's Global Assessment, occipital involvement, and the Lichen Planopilaris Activity Index. Intraobserver reliability was completed for 31 subjects and showed good correlation (intraclass correlation coefficient, 0.86; 95% confidence interval, 0.7-0.95; P < .001). Interobserver reliability showed excellent correlation (intraclass correlation coefficient, 0.97; 95% confidence interval, 0.95-0.99; P < .001). The study was performed at a single institution, and only female patients were assessed. The FFASS is a statistically validated scale and a reliable measure of FFA severity, and it can be used in clinical practice and future research studies as an assessment tool. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  12. Minimizing Risk of Nephrogenic systemic fibrosis in Cardiovascular Magnetic Resonance

    Directory of Open Access Journals (Sweden)

    Reiter Theresa

    2012-05-01

    Full Text Available Abstract Nephrogenic Systemic Fibrosis is a rare condition appearing only in patients with severe renal impairment or failure and presents with dermal lesions and involvement of internal organs. Although many cases are mild, an estimated 5 % have a progressive debilitating course. To date, there is no known effective treatment thus stressing the necessity of ample prevention measures. An association with the use of Gadolinium based contrast agents (GBCA makes Nephrogenic Systemic Fibrosis a potential side effect of contrast enhanced magnetic resonance imaging and offers the opportunity for prevention by limiting use of gadolinium based contrast agents in renal failure patients. In itself toxic, Gadolinium is embedded into chelates that allow its safe use as a contrast agent. One NSF theory is that Gadolinium chelates distribute into the extracellular fluid compartment and set Gadolinium ions free, depending on multiple factors among which the duration of chelates exposure is directly related to the renal function. Major medical societies both in Europe and in North America have developed guidelines for the usage of GBCA. Since the establishment of these guidelines and the increased general awareness of this condition, the occurrence of NSF has been nearly eliminated. Giving an overview over the current knowledge of NSF pathobiochemistry, pathogenesis and treatment options this review focuses on the guidelines of the European Medicines Agency, the European Society of Urogenital Radiology, the FDA and the American College of Radiology from 2008 up to 2011 and the transfer of this knowledge into every day practice.

  13. [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.

  14. DHEA and frontal fibrosing alopecia: molecular and physiopathological mechanisms.

    Science.gov (United States)

    Gaspar, Neide Kalil

    2016-01-01

    The transforming growth factor-beta 1 (TGFβ1) promotes fibrosis, differentiating epithelial cells and quiescent fibroblasts into myofibroblasts and increasing expression of extracellular matrix. Recent investigations have shown that PPAR (peroxisome proliferator-activated receptor*) is a negative regulator of fibrotic events induced by TGFβ1. Dehydroepiandrosterone (DHEA) is an immunomodulatory hormone essential for PPAR functions, and is reduced in some processes characterized by fibrosis. Although scarring alopecia characteristically develops in the female biological period in which occurs decreased production of DHEA, there are no data in the literature relating its reduction to fibrogenic process of this condition. This article aims to review the fibrogenic activity of TGFβ1, its control by PPAR and its relation with DHEA in the frontal fibrosing alopecia.

  15. 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.

  16. 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.

  17. Acquired nephrogenic diabetes insipidus in a dog with leptospirosis

    Science.gov (United States)

    2014-01-01

    A 5 year old male neutered Cairn Terrier was evaluated for signs of polyuria and polydipsia. Initial hematology and chemistry panels were unremarkable and urinalysis showed a persistent hyposthenuria. Eleven days later, the dog became lethargic, inappetent and had developed acute renal failure. The dog was ultimately euthanized due to a poor response to treatment. Microscopic agglutination titres were consistent with a diagnosis of leptospirosis. The initial hyposthenuria in this case was consistent with acquired nephrogenic diabetes insipidus. This is an uncommon presentation of leptospirosis that has not previously been described to progress to acute renal failure. Leptospirosis should be considered as a differential diagnosis in any dog presenting with polyuria and polydipsia and these patients should be treated as a zoonotic risk. PMID:24739820

  18. 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.

  19. Gadolinium and nephrogenic systemic fibrosis: time to tighten practice

    Energy Technology Data Exchange (ETDEWEB)

    Mendichovszky, Iosif A. [University College London, Radiology and Physics Unit, Institute of Child Health, London (United Kingdom); Marks, Stephen D. [Great Ormond Street Hospital for Children NHS Trust, Department of Paediatric Nephrology, London (United Kingdom); Simcock, Clare M.; Olsen, Oeystein E. [Great Ormond Street Hospital for Children NHS Trust, Department of Radiology, London (United Kingdom)

    2008-05-15

    Nephrogenic systemic fibrosis (NSF) is a relatively new entity, first described in 1997. Few cases have been reported, but the disease has high morbidity and mortality. To date it has been seen exclusively in patients with renal dysfunction. There is an emerging link with intravenous injection of gadolinium contrast agents, which has been suggested as a main triggering factor, with a lag time of days to weeks. Risk factors include the severity of renal impairment, major surgery, vascular events and other proinflammatory conditions. There is no reason to believe that children have an altered risk compared to the adult population. It is important that the paediatric radiologist acknowledges emerging information on NSF but at the same time considers the risk:benefit ratio prior to embarking on alternative investigations, as children with chronic kidney disease require high-quality diagnostic imaging. (orig.)

  20. Gadolinium and nephrogenic systemic fibrosis: time to tighten practice

    International Nuclear Information System (INIS)

    Mendichovszky, Iosif A.; Marks, Stephen D.; Simcock, Clare M.; Olsen, Oeystein E.

    2008-01-01

    Nephrogenic systemic fibrosis (NSF) is a relatively new entity, first described in 1997. Few cases have been reported, but the disease has high morbidity and mortality. To date it has been seen exclusively in patients with renal dysfunction. There is an emerging link with intravenous injection of gadolinium contrast agents, which has been suggested as a main triggering factor, with a lag time of days to weeks. Risk factors include the severity of renal impairment, major surgery, vascular events and other proinflammatory conditions. There is no reason to believe that children have an altered risk compared to the adult population. It is important that the paediatric radiologist acknowledges emerging information on NSF but at the same time considers the risk:benefit ratio prior to embarking on alternative investigations, as children with chronic kidney disease require high-quality diagnostic imaging. (orig.)

  1. 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

  2. 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

  3. 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.

  4. 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.

  5. 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%.

  6. Fisioterapia Respiratória na Fibrose Cística

    Directory of Open Access Journals (Sweden)

    Jefferson Veronezi

    2011-07-01

    Full Text Available A fisioterapia torácica convencional (FTC foi introduzida na década de 1950 como “padrão ouro” nos cuidados dos pacientes com fibrose cística (FC, no entanto há poucas evidências para que seu uso seja mantido na rotina diária. Revisou-se a evolução das condutas fisioterapêuticas em pacientes portadores de FC, bem como as novas opções de tratamento, através de um levantamento bibliográfico nas bases de dados eletrônicas Cochrane, LILACS, MEDLINE e SciELO no período entre 1990 e 2010. Nas últimas décadas a fisioterapia respiratória evoluiu favoravelmente disponibilizando aos pacientes técnicas ativas, realizadas em posições mais confortáveis e tão ou mais efetivas do que as convencionais. Entre elas, destacamos a pressão expiratória positiva (PEP, PEP oscilatória, ciclo ativo da respiração, aumento do fluxo expiratório, drenagem autógena e drenagem autógena modificada. O paciente deve conhecer e eventualmente participar, juntamente com o profissional, da definição da técnica mais apropriada a seu caso. Para tal, uma boa relação fisioterapeuta-paciente é de fundamental importância.

  7. 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...... in patients with fibrositis syndrome than in healthy subjects....

  8. 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.

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

    DEFF Research Database (Denmark)

    Marckmann, Peter; Skov, Lone; Rossen, Kristian

    2007-01-01

    .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...... 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...

  10. 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.

  11. A novel therapeutic effect of statins on nephrogenic diabetes insipidus

    Science.gov (United States)

    Bonfrate, Leonilde; Procino, Giuseppe; Wang, David Q-H; Svelto, Maria; Portincasa, Piero

    2015-01-01

    Statins competitively inhibit hepatic 3-hydroxy-3-methylglutaryl-coenzyme A reductase, resulting in reduced plasma total and low-density lipoprotein cholesterol levels. Recently, it has been shown that statins exert additional ‘pleiotropic’ effects by increasing expression levels of the membrane water channels aquaporin 2 (AQP2). AQP2 is localized mainly in the kidney and plays a critical role in determining cellular water content. This additional effect is independent of cholesterol homoeostasis, and depends on depletion of mevalonate-derived intermediates of sterol synthetic pathways, i.e. farnesylpyrophosphate and geranylgeranylpyrophosphate. By up-regulating the expression levels of AQP2, statins increase water reabsorption by the kidney, thus opening up a new avenue in treating patients with nephrogenic diabetes insipidus (NDI), a hereditary disease that yet lacks high-powered and limited side effects therapy. Aspects related to water balance determined by AQP2 in the kidney, as well as standard and novel therapeutic strategies of NDI are discussed. PMID:25594563

  12. Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

    Science.gov (United States)

    Bockenhauer, Detlef; Bichet, Daniel G

    2015-10-01

    Healthy kidneys maintain fluid and electrolyte homoeostasis by adjusting urine volume and composition according to physiological needs. The final urine composition is determined in the last tubular segment: the collecting duct. Water permeability in the collecting duct is regulated by arginine vasopressin (AVP). Secretion of AVP from the neurohypophysis is regulated by a complex signalling network that involves osmosensors, barosensors and volume sensors. AVP facilitates aquaporin (AQP)-mediated water reabsorption via activation of the vasopressin V2 receptor (AVPR2) in the collecting duct, thus enabling concentration of urine. In nephrogenic diabetes insipidus (NDI), inability of the kidneys to respond to AVP results in functional AQP deficiency. Consequently, affected patients have constant diuresis, resulting in large volumes of dilute urine. Primary forms of NDI result from mutations in the genes that encode the key proteins AVPR2 and AQP2, whereas secondary forms are associated with biochemical abnormalities, obstructive uropathy or the use of certain medications, particularly lithium. Treatment of the disease is informed by identification of the underlying cause. Here we review the clinical aspects and diagnosis of NDI, the various aetiologies, current treatment options and potential future developments.

  13. 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

  14. Undiagnosed nephrogenic diabetes insipidus as a cause of acute urinary retention in a young soldier.

    Science.gov (United States)

    Kim, Hyung Jin; Shin, Y S; Choi, H; Kim, M K; Jeong, Y B; Park, J K

    2016-10-01

    We present a case of undiagnosed nephrogenic diabetes insipidus as a cause of acute urinary retention in a 21-year-old male soldier. Soldiers live in close quarters, and have a regimented lifestyle that may not allow for frequent voiding; therefore, undiagnosed nephrogenic diabetes insipidus may result in acute urinary retention. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  15. 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

  16. 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...

  17. Progressive subretinal fibrosis and multifocal granulomatous chorioretinitis Fibrose sub-retiniana progressiva e corioretinite granulomatosa multifocal

    Directory of Open Access Journals (Sweden)

    Miguel Hage Amaro

    2006-06-01

    Full Text Available We describe a case of progressive subretinal fibrosis and multifocal chorioretinitis along with its findings on both fluorescein and indocyanine green angiography. The progressive subretinal fibrosis syndrome is a severe subset of multifocal choroiditis. The clustering of lesions around the nerve optic head may mean that the disease is spread through the flow in and out of the eye around the optic nerve.Descrevemos um caso de fibrose sub-retiniana progressiva e corrioretinite multifocal granulomatosa junto com os achados de angiografia fluoresceínica e com indocianina verde e propomos uma nova fisiopatologia para a fibrose em anel justa-papilar. A síndrome de fibrose sub-retiniana progressiva é uma doença grave, rara e constitui um subtipo grave da coroidite multifocal. As múltiplas lesões com fibrose circundando o disco óptico podem significar que a doença é oriunda do fluxo do líquido céfalo-raqueano, ao redor do nervo óptico.

  18. Acetazolamide Attenuates Lithium-Induced Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    de Groot, Theun; Sinke, Anne P; Kortenoeven, Marleen L A; Alsady, Mohammad; Baumgarten, Ruben; Devuyst, Olivier; Loffing, Johannes; Wetzels, Jack F; Deen, Peter M T

    2016-07-01

    To reduce lithium-induced nephrogenic diabetes insipidus (lithium-NDI), patients with bipolar disorder are treated with thiazide and amiloride, which are thought to induce antidiuresis by a compensatory increase in prourine uptake in proximal tubules. However, thiazides induced antidiuresis and alkalinized the urine in lithium-NDI mice lacking the sodium-chloride cotransporter, suggesting that inhibition of carbonic anhydrases (CAs) confers the beneficial thiazide effect. Therefore, we tested the effect of the CA-specific blocker acetazolamide in lithium-NDI. In collecting duct (mpkCCD) cells, acetazolamide reduced the cellular lithium content and attenuated lithium-induced downregulation of aquaporin-2 through a mechanism different from that of amiloride. Treatment of lithium-NDI mice with acetazolamide or thiazide/amiloride induced similar antidiuresis and increased urine osmolality and aquaporin-2 abundance. Thiazide/amiloride-treated mice showed hyponatremia, hyperkalemia, hypercalcemia, metabolic acidosis, and increased serum lithium concentrations, adverse effects previously observed in patients but not in acetazolamide-treated mice in this study. Furthermore, acetazolamide treatment reduced inulin clearance and cortical expression of sodium/hydrogen exchanger 3 and attenuated the increased expression of urinary PGE2 observed in lithium-NDI mice. These results show that the antidiuresis with acetazolamide was partially caused by a tubular-glomerular feedback response and reduced GFR. The tubular-glomerular feedback response and/or direct effect on collecting duct principal or intercalated cells may underlie the reduced urinary PGE2 levels with acetazolamide, thereby contributing to the attenuation of lithium-NDI. In conclusion, CA activity contributes to lithium-NDI development, and acetazolamide attenuates lithium-NDI development in mice similar to thiazide/amiloride but with fewer adverse effects. Copyright © 2016 by the American Society of Nephrology.

  19. Physiological insights into novel therapies for nephrogenic diabetes insipidus.

    Science.gov (United States)

    Sands, Jeff M; Klein, Janet D

    2016-12-01

    Fundamental kidney physiology research can provide important insight into how the kidney works and suggest novel therapeutic opportunities to treat human diseases. This is especially true for nephrogenic diabetes insipidus (NDI). Over the past decade, studies elucidating the molecular physiology and signaling pathways regulating water transport have suggested novel therapeutic possibilities. In patients with congenital NDI due to mutations in the type 2 vasopressin receptor (V2R) or acquired NDI due to lithium (or other medications), there are no functional abnormalities in the aquaporin-2 (AQP2) water channel, or in another key inner medullary transport protein, the UT-A1 urea transporter. If it is possible to phosphorylate and/or increase the apical membrane accumulation of these proteins, independent of vasopressin or cAMP, one may be able to treat NDI. Sildenifil (through cGMP), erlotinib, and simvastatin each stimulate AQP2 insertion into the apical plasma membrane. Some recent human data suggest that sildenafil and simvastatin may improve urine concentrating ability. ONO-AE1-329 (ONO) stimulates the EP4 prostanoid receptor (EP4), which stimulates kinases that in turn phosphorylate AQP2 and UT-A1. Clopidogrel is a P2Y12-R antagonist that potentiates the effect of vasopressin and increases AQP2 abundance. Metformin stimulates AMPK to phosphorylate and activate AQP2 and UT-A1, and it increases urine concentrating ability in two rodent models of NDI. Since metformin, sildenafil, and simvastatin are commercially available and have excellent safety records, the potential for rapidly advancing them into clinical trials is high. Copyright © 2016 the American Physiological Society.

  20. Achados Radiológicos Pulmonares da Fibrose Cística

    Directory of Open Access Journals (Sweden)

    Kelly Ribeiro Neves

    2011-07-01

    Full Text Available As radiografias de tórax são essenciais na avaliação pulmonar em pacientes com fibrose cística e a despeito da superioridade técnica da tomografia computadorizada, elas ainda permanecem como a ferramenta diagnóstica primária no seguimento destes pacientes. Demonstramos algumas manifestações radiológicas pulmonares desta entidade diagnóstica e destacamos alguns aspectos da literatura.

  1. Alopecia frontal fibrosante: relato de seis casos Frontal fibrosing alopecia: report of six cases

    Directory of Open Access Journals (Sweden)

    Fabiane Mulinari-Brenner

    2007-10-01

    Full Text Available Alopecia frontal fibrosante é forma progressiva de alopecia cicatricial. Os casos iniciais foram relatados a partir 1994, na Austrália, em pacientes do sexo feminino pós-menopausa. Desde então inúmeros casos foram descritos na literatura sugerindo que ela é mais prevalente do que inicialmente se supunha. Seu curso progressivo se assemelha ao da alopecia androgenética; histologicamente, entretanto, o infiltrado liquenóide é evidente. O artigo relata seis casos brasileiros e discute a alopecia frontal fibrosante dentro do grupo das alopecias cicatriciais, como variante do líquen plano pilar.Frontal fibrosing alopecia is a progressive cicatricial alopecia. The first cases were described in Australia in postmenopausal women, in 1994. Since then, numerous cases were reported, suggesting that frontal fibrosing alopecia is more prevalent than initially thought. Its progressive course in postmenopausal women, clinically resembles androgenetic alopecia; however, histologically, lichenoid infiltrate is evident. This article report six brazilian cases of frontal fibrosing alopecia and discusses them in the context of cicatricial alopecias, as a variant of lichen planopilaris.

  2. 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; Houlberg Hansen, Louise; Nielsen, Maria R

    2016-01-01

    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...

  3. 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

  4. Prática fisioterapêutica no tratamento da fibrose cística

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    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Harman, Mustafa E-mail: drmharman@hotmail.com; Sayarlioglu, Mehmet; Arslan, Halil; Ayakta, Hayati; Harman, Ece

    2003-11-01

    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.

  6. 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.

  7. 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.

  8. 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.

  9. Determination and clinical significance of renal filtration fraction in nephrogenic hypertension

    International Nuclear Information System (INIS)

    Karaev, M.Eh.; Figarov, I.G.; Samedov, R.N.; Grigor'ev, O.N.

    1989-01-01

    The effective renal plasma flow (ERPF), the rate of glomerular filtration and filtration fraction were investigated in 48 patients with nephrogenic hypertension (NH) using the method of dynamic renoscintigraphy with a double label ( 131 I-hippuran and 99m Tc-DTPA). The proposed method of noninvasive combined assessment of renal function was shown to be simple to perform and permitted the determination of a degree of involvement of the glomerular and tubular apparatus of the kidneys in NH. The comparison of renoscintigraphic and histomorphological results made it possible to determine renoscintigraphic criteria of glomerulo- and nephrosclerosis

  10. Evidence Suggesting a Role of Iron in a Mouse Model of Nephrogenic Systemic Fibrosis.

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    Chhanda Bose

    Full Text Available Nephrogenic systemic fibrosis is associated with gadolinium contrast exposure in patients with reduced kidney function and carries high morbidity and mortality. We have previously demonstrated that gadolinium contrast agents induce in vivo systemic iron mobilization and in vitro differentiation of peripheral blood mononuclear cells into ferroportin (iron exporter-expressing fibrocytic cells. In the present study we examined the role of iron in a mouse model of nephrogenic systemic fibrosis. Chronic kidney disease was induced in 8-week-old male Balb/C mice with a two-step 5/6 nephrectomy surgery. Five groups of mice were studied: control (n = 5, sham surgery control (n = 5, chronic kidney disease control (n = 4, chronic kidney disease injected with 0.5 mmol/kg body weight of Omniscan 3 days per week, for a total of 10 injections (n = 8, and chronic kidney disease with Omniscan plus deferiprone, 125 mg/kg, in drinking water (n = 9. Deferiprone was continued for 16 weeks until the end of the experiment. Mice with chronic kidney disease injected with Omniscan developed skin changes characteristic of nephrogenic systemic fibrosis including hair loss, reddening, ulceration, and skin tightening by 10 to 16 weeks. Histopathological sections demonstrated dermal fibrosis with increased skin thickness (0.25±0.06 mm, sham; 0.34±+0.3 mm, Omniscan-injected. Additionally, we observed an increase in tissue infiltration of ferroportin-expressing, fibrocyte-like cells accompanied by tissue iron accumulation in the skin of the Omniscan-treated mice. The deferiprone-treated group had significantly decreased skin thickness (p<0.05 and significantly decreased dermal fibrosis compared to the Omniscan-only group. In addition, iron chelation prevented tissue infiltration of ferroportin-expressing, fibrocyte-like cells. Our in vitro experiments demonstrated that exposure to Omniscan resulted in the release of catalytic iron and this was prevented by the iron chelator

  11. 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.)

  12. Infecção Respiratória na Fibrose Cística e Tratamento

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    Anneliese Hoffmann

    2011-08-01

    Full Text Available Fibrose Cística é uma doença multissistêmica e complexa, que exige tratamento contínuo. A doença pulmonar é o principal determinante da sua evolução. Alterações na composição da secreção das vias aéreas levam ao desenvolvimento de doença pulmonar progressiva com infecção respiratória crônica por germes peculiares à doença.  Esquemas de antibioticoterapia para tratamento das exacerbações pulmonares, erradicação de bactérias ou de supressão da infecção crônica constituem parte importante do tratamento, com repercussão significativa na melhora dos sintomas, da função pulmonar e da qualidade de vida dos pacientes com Fibrose Cística.

  13. Evolutionary Influenced Interaction Pattern as Indicator for the Investigation of Natural Variants Causing Nephrogenic Diabetes Insipidus

    Science.gov (United States)

    Labudde, Dirk

    2015-01-01

    The importance of short membrane sequence motifs has been shown in many works and emphasizes the related sequence motif analysis. Together with specific transmembrane helix-helix interactions, the analysis of interacting sequence parts is helpful for understanding the process during membrane protein folding and in retaining the three-dimensional fold. Here we present a simple high-throughput analysis method for deriving mutational information of interacting sequence parts. Applied on aquaporin water channel proteins, our approach supports the analysis of mutational variants within different interacting subsequences and finally the investigation of natural variants which cause diseases like, for example, nephrogenic diabetes insipidus. In this work we demonstrate a simple method for massive membrane protein data analysis. As shown, the presented in silico analyses provide information about interacting sequence parts which are constrained by protein evolution. We present a simple graphical visualization medium for the representation of evolutionary influenced interaction pattern pairs (EIPPs) adapted to mutagen investigations of aquaporin-2, a protein whose mutants are involved in the rare endocrine disorder known as nephrogenic diabetes insipidus, and membrane proteins in general. Furthermore, we present a new method to derive new evolutionary variations within EIPPs which can be used for further mutagen laboratory investigations. PMID:26180540

  14. Severe fibrosing mediastinitis with atypical presentation: Effective control with novel therapeutic approach.

    Science.gov (United States)

    Joury, Abdulaziz Uthman; Al Boukai, Ahmad Amer; Kashour, Tarek Seifaw

    2017-01-01

    Fibrosing mediastinitis (FM), also known as sclerosing mediastinitis, is an uncommon but serious disease involving the mediastinal structures. A high index of suspicion is essential to establish the diagnosis of FM and starting the appropriate therapy for patients. Here, we report a case of a young female who presented with chest symptoms and subsequently underwent different laboratory and radiologic investigations and an excisional biopsy. The findings of these investigations were consistent with the diagnosis of idiopathic FM. Her disease was associated with complete occlusion of three pulmonary veins and the left main pulmonary artery. The patient was treated with initial high-dose steroids followed by maintenance steroid and methotrexate therapy with very good long-term disease control. Clinical response, high-sensitivity C-reactive protein, and erythrocyte sedimentation rate were used to monitor disease activity and response to therapy.

  15. Severe fibrosing mediastinitis with atypical presentation: Effective control with novel therapeutic approach

    Directory of Open Access Journals (Sweden)

    Abdulaziz Uthman Joury

    2017-01-01

    Full Text Available Fibrosing mediastinitis (FM, also known as sclerosing mediastinitis, is an uncommon but serious disease involving the mediastinal structures. A high index of suspicion is essential to establish the diagnosis of FM and starting the appropriate therapy for patients. Here, we report a case of a young female who presented with chest symptoms and subsequently underwent different laboratory and radiologic investigations and an excisional biopsy. The findings of these investigations were consistent with the diagnosis of idiopathic FM. Her disease was associated with complete occlusion of three pulmonary veins and the left main pulmonary artery. The patient was treated with initial high-dose steroids followed by maintenance steroid and methotrexate therapy with very good long-term disease control. Clinical response, high-sensitivity C-reactive protein, and erythrocyte sedimentation rate were used to monitor disease activity and response to therapy.

  16. 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...... of pulmonary fibrosis (ICD 8: 517 and ICD 9: 515 and 516). Cases with a history of exposure to fibrogenic agents or with collagen vascular disease were excluded and the remaining 158 cases were defined as CFA. The average annual incidence of hospitalised CFA was 4.3 per 100,000. No change was observed...... with age were also found when the diagnosis of CFA was exclusively based on cases with hospital file records of breathlessness, bilateral crackles and bilateral shadows on chest radiograph....

  17. Induction of heme oxygenase-1 protects against nutritional fibrosing steatohepatitis in mice

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    Kong Li

    2011-02-01

    Full Text Available Abstract Background Heme oxygenase-1 (HO-1, an antioxidant defense enzyme, has been shown to protect against oxidant-induced liver injury. However, its role on liver fibrosis remains unclear. This study aims to elucidate the effect and the mechanism of HO-1 in nutritional fibrosing steatohepatitis in mice. Methods Male C57BL/6J mice were fed with a methionine-choline deficient (MCD diet for eight weeks to induce hepatic fibrosis. HO-1 chemical inducer (hemin, HO-1 chemical inhibitor zinc protoporphyrin IX (ZnPP-IX and/or adenovirus carrying HO-1 gene (Ad-HO-1 were administered to mice, respectively. Liver injury was assessed by serum ALT, AST levels and histological examination; hepatic lipid peroxides levels were determined; the expression levels of several fibrogenic related genes were assayed by real-time quantitative PCR and Western blot. Results MCD feeding mice showed progressive hepatic injury including hepatic steatosis, inflammatory infiltration and fibrosis. Induction of HO-1 by hemin or Ad-HO-1 significantly attenuated the severity of liver injury. This effect was associated with the up-regulation of HO-1, reduction of hepatic lipid peroxides levels, down-regulation of inflammatory factors tumor necrosis factor-alpha, interleukin-6 and suppressor of cytokine signaling-1 as well as the pro-fibrotic genes alpha-smooth muscle actin, transforming growth factor-β1, matrix metallopeptidase-2 and matrix metallopeptidase-9. A contrary effect was observed in mice treated with ZnPP-IX. Conclusions The present study provided the evidence for the protective role of HO-1 in ameliorating MCD diet-induced fibrosing steatohepatitis. Modulation of HO-1 expression might serve as a therapeutic approach for fibrotic steatohepatitis.

  18. Radionuclide methods in diagnosis and evaluation of efficiency of treatment of kidney diseases and nephrogenous hypertension

    International Nuclear Information System (INIS)

    Mil'ko, V.I.; Efimov, O.N.; Lazar', A.F.

    1991-01-01

    The role of radionuclide methods in comprehensive examination of patients with kidey diseases and nephrogeneous hypertension was considered. Such radionuclide methods as renography, static and dynamic scintigraphy, radionuclide angiography, clearance-test were described. The following radiopharmaceuticals were used: 131 I-hipuran, 99m Tc-DTPA, 113m I-DTPA, 99m Tc-pertechnetate, 99m Tc-pyrophosphate. Radionuclide investigations were used to study on kidneys function, urodynamics, state of blood supply of the kidneys, for revealing inflammatory process in the kidneys. High efficiency of radionuclide methods was noted, especially in persons with arterial hypertension. The usage of these methods was recommended for control of treatment and evaluation of kidneys function at different stages of the treatment. 48 refs.; 3 figs.; 10 tabs

  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. Successful minimally-invasive management of a case of giant prostatic hypertrophy associated with recurrent nephrogenic adenoma of the prostate.

    Science.gov (United States)

    Learney, Robert M; Malde, Sachin; Downes, Mark; Shrotri, Nitin

    2013-04-08

    Benign Prostatic Hypertrophy (BPH) is said to affect at least a third of men over 60. However, the literature contains fewer than 200 reports of prostates over 200g in mass - Giant Prostatic Hypertrophy (GPH). Nephrogenic adenomas are benign lesions of the urinary tract that are believed to represent the local proliferation of shed renal tubular cells implanting at sites of urothelial injury. We present the first case in the literature of these two rare pathologies co-existing in the same patient and the successful management and 36-month follow-up of the patient's symptoms with minimally invasive therapy, including the still-uncommon selective prostatic artery embolisation. We also briefly discuss the role of PAX2 in injured renal tissues and nephrogenic adenomas. Symptomatic Giant Prostatic Hypertrophy (GPH) can be successfully managed with a combination of serial TURPs, 5 α-reductase inhibition and selective prostatic artery embolisation (SPAE).

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    Soumya Patra

    2011-01-01

    Full Text Available 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.

  3. 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.

  4. Complications of nephrogenic systemic fibrosis following repeated exposure to gadolinium in a man with hypothyroidism: a case report

    Directory of Open Access Journals (Sweden)

    Aggarwal Arpita

    2011-12-01

    Full Text Available Abstract Introduction Nephrogenic systemic fibrosis is a condition that has recently been recognized in patients with chronic renal disease and is associated with use of gadolinium-based contrast agents of ubiquitous use in magnetic resonance imaging scans. The condition is believed to arise through inadequate renal clearance of the gadolinium-based contrast agents, resulting in bodily deposition of the gadolinium; this is most widely recognized in the skin, but also occurs in other tissues. Case presentation We report the case of a 52-year-old Caucasian man with hypothyroidism and chronic renal disease who developed nephrogenic systemic fibrosis upon repeated exposure to gadolinium, and who presented with a subsequent malabsorption of levothyroxine. This malabsorption resolved only partially upon amelioration of other conditions that might contribute to malabsorption, including edema and infectious diarrhea. The presence of gadolinium was quantified in specimens from his gastrointestinal tract. Our patient otherwise demonstrated adequate gastrointestinal nutritive absorption, objectively shown by normal albumin levels, resolution of diarrhea, and maintenance of his bodily weight. Conclusions Our observations suggest that nephrogenic systemic fibrosis can also affect tissue of the gastrointestinal tract, potentially contributing to partial malabsorption of levothyroxine in patients with hypothyroidism.

  5. 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

  6. Frontal fibrosing alopecia among men: A clinicopathologic study of 7 cases.

    Science.gov (United States)

    Tolkachjov, Stanislav N; Chaudhry, Hafsa M; Camilleri, Michael J; Torgerson, Rochelle R

    2017-10-01

    Frontal fibrosing alopecia (FFA) is a lichen planopilaris-variant scarring alopecia that has rarely been described in men. To characterize the clinicopathologic findings of FFA in men by studying a series of 7 male patients. We conducted a retrospective review of all cases of male patients with FFA at the Mayo Clinic from 1992 to 2016. Seven male patients with FFA were identified. The frontal scalp (in 6 of 7 patients), sideburns (in 4 of 7), and temporal scalp (in 4 of 7) were most frequently involved. Three patients had involvement of the eyebrows. One patient had hair loss of the upper cutaneous lip. All patients had biopsy evidence of lichen planopilaris. None of the patients had associated autoimmune or thyroid disease. Two patients had hypogonadism upon testosterone studies. Limitations include small sample size and varied follow-up. Although most often reported among postmenopausal women, FFA also occurs among men. The clinical and histopathologic characteristics of FFA in men parallel those described in women with FFA. Unique areas of involvement in men include sideburns and facial hair. Concomitant mucocutaneous lichen planus, autoimmune disease, and thyroid disease are infrequent among men with FFA. Distribution of hair loss and associated hormonal abnormalities aid in the recognition of FFA in men. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  7. Frontal Fibrosing Alopecia and Concomitant Lichen Planus Pigmentosus: A Case Series of Seven African American Women.

    Science.gov (United States)

    Uwakwe, Laura N; Cardwell, Leah A; Dothard, Emily H; Baroudi, Bernice I; McMichael, Amy J

    2018-04-01

    The association of frontal fibrosing alopecia (FFA) and lichen planus pigmentosus (LPPigm) is rare. Prior reports suggest that FFA and LPPigm are on the same spectrum of disease, and a diagnosis of LPPigm may predict the future development of FFA. We aim to further characterize the association between FFA and LPPigm by reviewing the clinical cases of seven African American women. Seven patients with FFA were diagnosed clinically by recession of frontotemporal hairline and confirmed by histopathologic examination showing lymphocyte-mediated cicatricial alopecia. LPPigm was diagnosed by clinical evaluation alone based on the characteristic morphology, color, and distribution of the lesions. It is difficult to distinguish whether halted progression of FFA was due to the success of the treatment regimen or spontaneous stabilization of disease over time. Our case series supports the theory that FFA and LPPigm likely exist on the same spectrum of disease. Our observations demonstrate a likely positive correlation between FFA and LPPigm. J Drugs Dermatol. 2018;17(4):397-400..

  8. 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.)

  9. 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

  10. 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.

  11. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  13. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  15. Bronchoalveolar lavage fluid cell counts in cryptogenic fibrosing alveolitis and their relation to therapy.

    Science.gov (United States)

    Haslam, P L; Turton, C W; Lukoszek, A; Salsbury, A J; Dewar, A; Collins, J V; Turner-Warwick, M

    1980-01-01

    Bronchoalveolar lavage was used to sample inflammatory cells from the lungs of 51 patients with cryptogenic fibrosing alveolitis (CFA) (24 smokers, 12 ex-smokers, and 15 non-smokers). The smokers with CFA have been compared with 15 smoking control subjects in whom there was no radiographic abnormality or clinical evidence of chronic bronchitis. Significantly lower volumes of lavage fluid were recovered from the smokers with CFA (p < 0.001) and the fluid contained lower percentages of macrophages (p < 0.01), reflecting increased percentages of eosinophils (p < 0.001) and neutrophils (p < 0.01). Similar changes were seen in the ex-smokers and non-smokers. There was also an increase in the percentages of lymphocytes when the whole group of CFA patients was compared with the control subjects (p less than or equal to 0.05). No significant differences were found when patients with "lone" CFA were compared with those having associated systemic disease. The only feature distinguishing smokers from non-smokers with CFA was the presence of pigmented cytoplasmic inclusions in the macrophages from the smokers (p < 0.001). However, there were lower numbers of pigmented macrophages in the smoking CFA patients by comparison with the control subjects suggesting either a change in phagocytic capacity or turnover rate in this disease. Profiles of differential cell counts in individual patients showed that increases of eosinophils over 3% or neutrophils over 4% or both with lymphocyte counts of less than 11% related to a poor clinical response to corticosteroids, but lymphocyte percentages greater than 11% related to improvement (p < 0.05). Images PMID:7434282

  16. 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.

  17. Case study: fibrosing alopecia in a pattern distribution localized on alopecia androgenetica areas and unaffected scalp.

    Science.gov (United States)

    Amato, Lauretta; Chiarini, Caterina; Berti, Samantha; Bruscino, Paolo; Fabbri, Paolo

    2004-01-01

    A 54-year-old man with a 24-year history of androgenetic alopecia was referred to the Department of Dermatological Sciences with follicular inflammatory lesions leading to scleroatrophy in the vertex region (Figure 1) of 1-year duration. These lesions appeared a year ago. There was no previous history of this condition. On examination, the patient showed confluent infiltrative follicular lesions on the frontoparietal and occipital scalp (Figure 2). Some lesions evolved into erosions that developed in ivory white scleroatrophy within weeks. These lesions were localized both in and outside of are as affected by alopecia androgenetica and were associated with mild pruritus. Histopathologic examination, performed on an early lesion of the vertex, documented a mild thinning of follicular epithelium associated with an intense lymphohistiocytic perifollicular infiltrate. The damage of the basal cell layer was limited to the follicle, while epidermis was intact. In particular, follicular keratinocytes under the isthmus showed a very intense degeneration exactly where the infiltrate was the most prominent. The damage of the hair sheath was under the isthmus and involved the lower portions of the follicles (including the hair bulbs). The inflammatory infiltrate was exclusively represented by perifollicular lymphohistiocytes. Finally, a connective fibrotic shell with numerous fibroblasts formed a sheath around the atrophic follicle (Figure 3). Results of laboratory investigations (including complete blood cell counts, basal thyroid-stimulating hormone, C-reactive protein, serum ferritin levels, B and C hepatitis markers, antinuclear antibodies, and cultural examinations) were negative.We diagnosed the patient with fibrosing alopecia in a pattern distribution.

  18. 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.

  19. Avaliação do estado de saúde bucal de pacientes com fibrose cística

    OpenAIRE

    Ana Chapper

    2010-01-01

    Esse estudo transversal avaliou a saúde bucal de 36 pacientes com fibrose cística (FC). Um questionário foi aplicado para obter informações sobre autocuidados e outros aspectos que pudessem influenciar os resultados. Os exames, realizados por examinadora treinada e calibrada, foram placa visível (IPV), sangramento gengival (ISG), profundidade de sondagem (PS), perda de inserção (PI), exsudato à sondagem (SS), presença de sítios com cálculo dental, experiência de cárie (ceo/CPO-D + MBA) e núme...

  20. 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.

  1. A experiência da doença na fibrose cística: caminhos para o cuidado integral

    Directory of Open Access Journals (Sweden)

    Tainá Pelucio Pizzignacco

    2011-06-01

    Full Text Available A Fibrose Cística é uma doença crônica que grande impacto exerce sobre a vida familiar. A experiência da doença é a maneira pela qual os indivíduos respondem à doença, atribuindo significados e buscando maneiras para lidar com ela no seu cotidiano. O estudo teve como objetivo compreender a experiência da Fibrose Cística a partir do contexto familiar. Estudo de caso etnográfico, realizado com famílias de crianças com a doença atendidas em um hospital escola do interior do estado de São Paulo. Os resultados foram divididos nos temas: passado, presente e futuro e permearam essas fases a busca pelo significado da doença e pelo suporte social, a importância da religião e espiritualidade e a centralidade da socialização da criança. Conhecer a experiência na doença e a rede social torna-se imprescindível para o planejamento de um cuidado integral. Essa abordagem mostrou-se inovadora para o cuidado à doença crônica.

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

    Energy Technology Data Exchange (ETDEWEB)

    Rees, O., E-mail: owenrees1@gmail.co [Wrexham Maelor Hospital, Wrexham (United Kingdom); Agarwal, S.K. [Wrexham Maelor Hospital, Wrexham (United Kingdom)

    2010-08-15

    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.

  3. Defective Store-Operated Calcium Entry Causes Partial Nephrogenic Diabetes Insipidus.

    Science.gov (United States)

    Mamenko, Mykola; Dhande, Isha; Tomilin, Viktor; Zaika, Oleg; Boukelmoune, Nabila; Zhu, Yaming; Gonzalez-Garay, Manuel L; Pochynyuk, Oleh; Doris, Peter A

    2016-07-01

    Store-operated calcium entry (SOCE) is the mechanism by which extracellular signals elicit prolonged intracellular calcium elevation to drive changes in fundamental cellular processes. Here, we investigated the role of SOCE in the regulation of renal water reabsorption, using the inbred rat strain SHR-A3 as an animal model with disrupted SOCE. We found that SHR-A3, but not SHR-B2, have a novel truncating mutation in the gene encoding stromal interaction molecule 1 (STIM1), the endoplasmic reticulum calcium (Ca(2+)) sensor that triggers SOCE. Balance studies revealed increased urine volume, hypertonic plasma, polydipsia, and impaired urinary concentrating ability accompanied by elevated circulating arginine vasopressin (AVP) levels in SHR-A3 compared with SHR-B2. Isolated, split-open collecting ducts (CD) from SHR-A3 displayed decreased basal intracellular Ca(2+) levels and a major defect in SOCE. Consequently, AVP failed to induce the sustained intracellular Ca(2+) mobilization that requires SOCE in CD cells from SHR-A3. This effect decreased the abundance of aquaporin 2 and enhanced its intracellular retention, suggesting impaired sensitivity of the CD to AVP in SHR-A3. Stim1 knockdown in cultured mpkCCDc14 cells reduced SOCE and basal intracellular Ca(2+) levels and prevented AVP-induced translocation of aquaporin 2, further suggesting the effects in SHR-A3 result from the expression of truncated STIM1. Overall, these results identify a novel mechanism of nephrogenic diabetes insipidus and uncover a role of SOCE in renal water handling. Copyright © 2016 by the American Society of Nephrology.

  4. 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.

  5. 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.

  6. Gadolinium-containing magnetic resonance imaging contrast and nephrogenic systemic fibrosis: a case-control study.

    Science.gov (United States)

    Kallen, Alexander J; Jhung, Michael A; Cheng, Steven; Hess, Theresa; Turabelidze, George; Abramova, Liana; Arduino, Matthew; Guarner, Jeannette; Pollack, Brian; Saab, Georges; Patel, Priti R

    2008-06-01

    Nephrogenic systemic fibrosis (NSF) is a newly described disorder occurring in persons with renal failure. Gadolinium-based contrast used in magnetic resonance imaging (MRI) has been suggested as a cause. A cluster of patients with NSF was investigated to identify risk factors. Limited preliminary findings from this investigation were presented in the Morbidity and Mortality Weekly Report. Matched case-control. Dialysis patients with and without a diagnosis of NSF treated at an academic medical center. Exposure to gadolinium-based contrast. Laboratory and clinical characteristics of NSF. 19 of 28 cases identified at the hospital from December 2002 to August 2006 met inclusion criteria and were matched to 57 controls. In univariate analysis, receipt of gadolinium-containing MRI contrast in the preceding year (odds ratio [OR], 7.99; 95% confidence interval, 2.22 to 28.8) was associated with NSF; the measure of association increased as cumulative dose increased. Gadodiamide exposure (OR, 9.83; 95% confidence interval, 2.09 to 46.2) was associated more strongly with NSF than gadoversetamide (OR, 1.82; 95% confidence interval, 0.33 to 10.2). Although not statistically significant, cases were more likely than controls to have undergone primarily peritoneal dialysis in the preceding 6 months. There was no significant difference in receipt of high-dose recombinant erythropoietin between cases and controls. In multivariable analysis, gadolinium contrast exposure (OR, 8.97; 95% confidence interval, 1.28 to 63.0) remained significantly associated with NSF. Retrospective design, small sample size, inability to completely evaluate erythropoietin. Receipt of gadolinium-containing MRI contrast is associated with NSF in a dose-dependent manner. The risk associated with gadolinium may differ by contrast agent and dialysis modality. Use of gadolinium-based contrast agents should be avoided when possible in patients with renal failure.

  7. 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

  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. 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.

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

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    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.

  12. 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.

  13. 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.

  14. 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.

  15. 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...

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

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    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

  17. 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.

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

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    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.

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

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    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

  20. 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.

  1. 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.

  2. Cooperative mechanisms involved in chronic antidiuretic response to bendroflumethiazide in rats with lithium-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Moosavi, S M S; Karimi, Z

    2014-03-01

    Previous studies of central diabetes insipidus suggested that thiazides acutely exerted a paradoxical antidiuresis by either indirectly activating volume-homeostatic reflexes to decrease distal fluid-delivery, or directly stimulating distal water-reabsorption. This study investigated whether the direct and indirect actions of bendroflumethiazide (BFTZ) simultaneously cooperated and also whether the renal nerves were involved in inducing long-term antidiuresis in nephrogenic diabetes insipidus (NDI). BFTZ or vehicle was gavaged into bilateral renal denervated and innervated rats with lithium-induced NDI for 10 days, constituting four groups. At one day before (D0) and one, five and ten days after starting administration of BFTZ or vehicle, rats were placed in metabolic cages to collect urine for 6 hours. BFTZ-treatment in both renal innervated and denervated rats caused equivalent reductions in urine-flow, creatinine clearance, lithium clearance and free-water clearance, but rises in urine-osmolality, fractional proximal reabsorption and fractional distal reabsorption at all days compared to D0, as well as to those of their relevant vehicle-received group. Therefore, the chronic antidiuretic response to BFTZ in conscious NDI rats was exerted through a concomitant cooperation of its direct distal effect of stimulating water-reabsorption and its indirect effect of reducing distal fluid-delivery by activating volume-homeostatic mechanisms, which appeared independent of the renal nerves.

  3. Pseudomucocele bilateral associada à fibrose cística: relato de caso Cystic Fibrosis-Associated Bilateral Pseudomucocele: case Report

    Directory of Open Access Journals (Sweden)

    Karla Palma Portes

    2007-12-01

    Full Text Available A fibrose cística, também conhecida como mucoviscidose, é um distúrbio monogenético que se apresenta como uma doença multissistêmica. A incidência é de aproximadamente 1:2500 nascidos vivos. O mecanismo fisiopatológico é uma mudança qualitativa em todas as secreções exócrinas do organismo. O aumento da viscosidade dessas secreções leva à estase e obstrução mecânica, prejudicando a função secretora dos órgãos-alvo. O nariz e seios paranasais são freqüentemente envolvidos devido ao clearence mucociliar anormal, responsável pelo desenvolvimento de rinossinusite crônica, polipose nasal e pseudomucocele sinusal. OBJETIVO: É apresentar um caso raro de pseudomucocele bilateral em uma criança portadora de fibrose cística. DESCRIÇÃO DO CASO: M.F.B.R., 2 anos, masculino, apresentava obstrução nasal crônica e infecções pulmonares recorrentes. O exame clínico detectava presença de secreção nasal abundante, com descarga posterior em orofaringe. A tomografia computadorizada dos seios paranasais mostrou imagem sugestiva de pseudomucocele, com velamento dos seios maxilares e etmóides. A dosagem de sódio e cloro no suor apresentou alterações significativas. Optamos por tratamento cirúrgico, após internação do paciente para controle das manifestações pulmonares exacerbadas. A criança evoluiu com melhora do quadro obstrutivo nasal. CONCLUSÕES: A pseudomucocele é uma entidade que começou a fazer partes da rotina de diagnóstico diferencial a partir do momento em que os exames tomográficos tornaram-se parte da semiologia das doenças sinusais. Os pacientes com psedomucocele têm apresentado um aumento importante da sobrevida graças aos tratamentos atuais.Cystic fibrosis, also known as mucoviscidosis, is a monogenetic disorder that is presented as a multisystemic disease. The incidence is approximately 1: 2500 live births. The pathophysiologic mechanism is a qualitative change in all exocrine secretions of

  4. Private specificities can dominate the humoral response to self-antigens in patients with cryptogenic fibrosing alveolitis

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    Lake Richard A

    2001-02-01

    Full Text Available Abstract Background The pathogenetic mechanisms that underlie the interstitial lung disease cryptogenic fibrosing alveolitis (CFA may involve an immunological reaction to unidentified antigens in the lung, resulting in tissue damage. Method In order to identify the range of target autoantigens, we used expression cloning, employing serum from an index patient as the probe against an expressed cDNA library that was derived from a tumour cell line. We screened over 5 × 105 recombinants and obtained sequence information on three antigens that had provoked strong responses with immunoglobulin heavy chain class switching, presumably as a consequence of T-cell recognition. Results All of the antigens were identifiable by comparison with sequence data from the US National Center for Biotechnology Information. Alanyl tRNA synthetase (ATS was picked on six occasions; five of these incidences reflected independent recombination events, indicating that the library was not biased. Antibodies to ATS (anti-PL-12 represent the most common reactivity that defines the antisynthetase syndrome, which is typically expressed as polymyositis, dermatomyositis and interstitial lung disease (ILD. The index patient never showed symptoms other than those associated with alveolitis, even though sera obtained from him over a period of 2 years contained antibodies with the same specificity. Autoantibodies to ATS were never detected in serial bleeds from 11 other patients with CFA, and neither did we detect antibodies to the other two antigens identified from the serum of the index patient. Conclusion The humoral response in patients with CFA can be dominated by autoantibodies with private specificities. This suggests that the antibodies are epiphenomenal and are a secondary feature of tissue damage induced by some other mechanism.

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

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    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.

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

    Science.gov (United States)

    Elmholdt, T R; Buus, N H; Ramsing, M; Olesen, A B

    2013-06-01

    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. To investigate if the tyrosine kinase inhibitor, imatinib mesylate was effective in patients with moderate to severe nephrogenic systemic fibrosis. Among 25 patients with nephrogenic systemic fibrosis evaluated for the study from 1 October 2009 to 1 December 2010, four were included. They were treated with oral imatinib mesylate at a start dose of 400 mg/day. Reduction of skin fibrosis and increase in joint mobility evaluated by the modified Rodnan skin score and a goniometer. In two patients, the imatinib mesylate dose was reduced to 200 mg/day and in one patient to 100 mg/day. Two patients were treated for 24 weeks, one patient for 16 weeks and one patient for 4 weeks. Three patients experienced tethering of their skin which lessened with reduction in modified Rodnan skin score from 24 to 20, 24 to 17 and 21 to 14 but with very limited changes in joint mobility. The fourth patient discontinued the treatment due to a complicating infection. 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 and conclusions of the results. © 2011 The Authors. Journal of the European Academy of Dermatology and Venereology © 2011 European Academy of Dermatology and Venereology.

  7. 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

    patients with stage 5 CKD at exposure (n = 102) was 18% (95% CI: 11%-27%). No cases were seen among 88 gadodiamide-exposed patients who had milder degrees of renal insufficiency (prevalence 0%, 95% CI: 0%-4%). CONCLUSIONS: The risk of NSF is unacceptably high among stage 5 CKD patients exposed......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...

  8. 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

  9. 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....

  10. 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.)

  11. 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.

  12. 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

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

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    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

  14. Pathogenesis of hepatic septal fibrosis associated with Capillaria hepatica infection of rats Patogenia da fibrose septal hepática associada com a infecção por Capillaria hepatica em ratos

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    Antônio Benigno dos Santos

    2001-12-01

    Full Text Available Septal fibrosis is a common form of hepatic fibrosis, but its etiology and pathogenesis are poorly understood. Rats infected with the helminth Capillaria hepatica constitute a good experimental model of such fibrosis. To investigate the pathogenetic contribution of the several parasitic factors involved, the following procedures were performed in rats: a regarding the role of eggs, these were isolated and injected either into the peritoneal cavity or directly into the liver parenchyma; b for worms alone, 15-day-old infection was treated with mebendazole, killing the parasites before oviposition started; c for both eggs and worms, rats at the 30th day of infection were treated with either mebendazole or ivermectin. Eggs only originated focal fibrosis from cicatricial granulomas, but no septal fibrosis. Worms alone induced a mild degree of perifocal septal fibrosis. Systematized septal fibrosis of the liver, similar to that observed in the infected controls, occurred only in the rats treated with mebendazole or ivermectin, with dead worms and immature eggs in their livers. Thus, future search for fibrogenic factors associated with C. hepatica infection in rats should consider lesions with both eggs and worms.A fibrose septal é uma forma comum de fibrose hepática, mas a sua etiologia e patogenia são ainda desconhecidas. Os ratos infectados com o verme Capillaria hepatica representam um bom modelo experimental para tal fibrose. Para verificar a contribuição de cada fator parasitário na patogenia, os seguintes experimentos foram realizados em ratos: a para testar o papel dos ovos, estes foram isolados e injetados seja na cavidade peritoneal ou no interior do parênquima hepático; b para verificar o papel dos vermes, foram tratados com mebendazol, ratos infectados aos 15 dias da inoculação; c para o papel de ovos e vermes conjuntamente, os ratos com infecção de 30 dias foram tratados com mebendazol ou ivermectina. Os ovos injetados no f

  15. Imatinib atenua a fibrose miocárdica em associação com a inibição da atividade do PDGFRα

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    Li-kun Ma

    2012-12-01

    Full Text Available FUNDAMENTO: O Imatinib é um inibidor do receptor tirosina-quinase que foi confirmada como exercendo um efeito inibidor sobre a atividade do receptor do PDGF, fator de crescimento plaquetário (PDGFRα e PDGFRβ. OBJETIVO: Investigar o efeito protetor do Imatinib na fibrose miocárdica em acetato de deoxicorticosterona (DOCA/ratos com hipertensão induzida por sal. MÉTODOS: Sessenta ratos Sprague-Dawley machos, uninefrectomizados foram distribuídos em três grupos: ratos controles (grupo CON: grupo deoxicorticosterona (grupo DOCA; grupo deoxicorticosterona e Imatinib (grupo DOCA IMA. A Pressão Arterial Sistólica (PAS foi medida quinzenalmente. Foi estudada a porção apical do ventrículo esquerdo. Foram empregados: coloração vermelho sirius, coloração de hematoxilina-eosina, imuno-histoquímica e ensaio de western blot. RESULTADOS: A PAS nos grupos DOCA e IMA+DOCA foi maior que no grupo CON nos dias 14 e 28. Os animais do grupo DOCA apresentaram fibrose intersticial e perivascular grave no dia 28, e as expressões de PI, PIII, tenascina-C e fibronectina foram significativamente maiores que nos grupos DOCA+IMA e CON. Quando comparados com o grupo CON, os grupos DOCA e DOCA+IMA apresentaram resposta inflamatória de tecido miocárdico e infiltração de monócitos/macrófagos de diferentes graus. As expressões proteicas do PDGF-A, PDGF-C e PDGFRα foram significativamente maiores nos grupos DOCA e DOCA+IMA que no grupo CON, mas a expressão proteica do p-PDGFRα no grupo DOCA+IMA foi menor que no DOCA. CONCLUSÃO: O Imatinib pode exercer efeitos inibitórios sobre a fibrose miocárdica em ratos com hipertensão induzida por DOCA/sal, os quais podem ser atribuídos à inibição da atividade do PDGFR-α.

  16. Primary cicatricial alopecia: Lymphocytic primary cicatricial alopecias, including chronic cutaneous lupus erythematosus, lichen planopilaris, frontal fibrosing alopecia, and Graham-Little syndrome.

    Science.gov (United States)

    Bolduc, Chantal; Sperling, Leonard C; Shapiro, Jerry

    2016-12-01

    Both primary and secondary forms of cicatricial alopecia have been described. The hair follicles are the specific target of inflammation in primary cicatricial alopecias. Hair follicles are destroyed randomly with surrounding structures in secondary cicatricial alopecia. This 2-part continuing medical education article will review primary cicatricial alopecias according to the working classification suggested by the North American Hair Research Society. In this classification, the different entities are classified into 3 different groups according to their prominent inflammatory infiltrate (ie, lymphocytic, neutrophilic, and mixed). Part I discusses the following lymphocytic primary cicatricial alopecias: chronic cutaneous lupus erythematosus, lichen planopilaris, frontal fibrosing alopecia, and Graham-Little syndrome. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  17. A Importância das Associações de Fibrose Cística na Vida dos Pacientes e Familiares

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    Cleci Furian Müller

    2011-07-01

    Full Text Available Na organização da sociedade moderna as associações filantrópicas tornaram-se importantes no cenário mundial.No Brasil após a fundação da ABRAM várias associações regionais se estruturaram para defender os pacientes com Fibrose Cística.No RGS, duas entidades a AGAM   com 237 pacientes e a AMUCORS com 103 pacientes, trabalham para garantir o fortalecimento das equipes, o conhecimento e divulgação da patologia para a  sociedade e o direito ao tratamento correto para os pacientes.

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

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    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.

  19. 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.

  20. Hepatotrophic factors reduce hepatic fibrosis in rats Fatores hepatotróficos reduzem a fibrose hepática em ratos

    Directory of Open Access Journals (Sweden)

    Bruno Cogliati

    2010-03-01

    Full Text Available CONTEXT: Hepatic fibrosis occurs in response to several aggressive agents and is a predisposing factor in cirrhosis. Hepatotrophic factors were shown to stimulate liver growth and to restore the histological architecture of the liver. They also cause an improvement in liver function and accelerate the reversion of fibrosis before it progresses to cirrhosis. OBJECTIVE: To test the effects of hepatic fibrosis solution composed by amino acids, vitamins, glucose, insulin, glucagon and triiodothyronine on hepatic fibrosis in rats. METHODS: Fibrosis was induced in rats by gastric administration of dimethylnitrosamine (10 mg/kg for 5 weeks. After liver biopsy, the rats received either hepatotrophic factors solution (40 mg/kg/day or saline solution for 10 days by intraperitoneal injection. Blood samples and liver fragments were collected for hepatic function analysis, standard histopathology evaluation, and morphometric collagen quantification. RESULTS: Rats in the hepatotrophic factors group showed a decrease of the histopathological components of fibrosis and an increase of their hepatic mass (12.2%. There was no development of neoplasic lesions in both groups. Compared with the saline group, the hepatotrophic factors group also had a decrease of blood levels of hepatic-lesion markers (AST, ALT and a decrease of collagen content in the portal spaces (31.6% and perisinusoidal spaces (42.3%, as well as around the hepatic terminal vein (57.7%. Thus, hepatotrophic factors administration in the portal blood promoted a regenerative hepatic response, with an overall reduction of the volumetric density of collagen, improved hepatic function, and a general improvement in the histopathological aspects of fibrosis. CONCLUSION: Taken together, these results suggest the potential therapeutic use of this hepatotrophic factors solution to treat chronic liver diseases.CONTEXTO: A fibrose hepática ocorre em resposta a diversos agentes agressores e é um fator

  1. [Polyuric dilatation of the urinary tract in congenital nephrogenic diabetes insipidus. Clinical and diagnostic aspects. Presentation of a case and review of the literature].

    Science.gov (United States)

    Soler Fernández, J M; Caravaca Magariños, F; Domínguez Bravo, C; Murillo Mirat, J; Herrera Puerto, J; Sanz Cueva, J

    1990-01-01

    Massive polyuria existing in congenital nephrogenic diabetes insipidus can cause a more or less severe dilatation of the urinary tract in absence of obstruction. Clinical and diagnostic aspects of this pathology are presented relating then with other types of diabetes insipidus. One case of bilateral severe dilatation with evolution towards renal atrophia is presented. Mechanical obstruction was discarded. The disease was refractory to urinary concentration tests and therapy to reduce urine volume. The possible etiopathological mechanisms of functional obstruction and surgical alternatives directed to preserve the kidney function are explained and discussed. The current literature is reviewed but the cases reported are few due to the low incidence of urological affectation. Presence of kidney atrophia is exceptional.

  2. 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

  3. Avaliação evolutiva da espirometria na fibrose cística Spirometry evolution assessment of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    ELENARA DA FONSECA ANDRADE

    2001-05-01

    Full Text Available Objetivo do estudo: Avaliar o padrão da evolução dos fluxos e volumes pulmonares dinâmicos dos pacientes com fibrose cística (FC, assim como analisar a relação entre a gravidade do comprometimento ventilatório com a idade, sexo, genótipo e colonização pulmonar. Material e método: Na Unidade de Pneumologia Infantil e Serviço de Pneumologia do Hospital de Clínicas de Porto Alegre, foram avaliadas 243 espirometrias de 52 pacientes portadores de FC maiores de quatro anos realizadas no período de 1987 a 1999. Do prontuário médico foram extraídas informações sobre idade ao diagnóstico, pesquisa genética, colonização brônquica e os valores absolutos e percentuais para fluxos e volumes da melhor espirometria de cada ano. Resultados: A idade dos pacientes variou de quatro a 26 anos (média = 13,04 ± 4,82. Dos 52 pacientes, 49 (94% tiveram pelo menos uma cultura de escarro com P. aeruginosa, 45 (86% com S. aureus e 13 (25% com B. cepacia. Na avaliação inicial dos quatro aos seis anos (n = 40, os valores médios da CVF e do VEF1 foram de 114,24% e 112,25%, respectivamente. A média da CVF manteve-se acima do normal até os 18 anos, quando apresentou queda súbita para 67,2% (p = 0,0002. A média do VEF1 atingiu valores abaixo de 80% aos dez anos, estando em 50% aos 18 anos (p Objectives: To evaluate the evolution pattern of dynamic pulmonary flow and volume in cystic fibrosis patients and analyze the relation between the severity of ventilatory attacks and age, gender, genotype and pulmonary colonization. Methods: At the Pediatric Pulmonary Unit and Pulmonary Service of Hospital de Clínicas of Porto Alegre, 243 spirometries performed between 1987 and 1999 in 52 cystic fibrosis patients older than four years of age were reviewed. From the patients' medical records the following informations were extracted: age at diagnosis, genetic data, bronchial colonization and absolute as well as percent values of the flows and volumes of

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

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    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

  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. 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

  7. 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

  8. 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

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    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

  9. Changes of rat kidney AQP2 and Na,K-ATPase mRNA expression in lithium-induced nephrogenic diabetes insipidus.

    Science.gov (United States)

    Laursen, Ulla Helt; Pihakaski-Maunsbach, Kaarina; Kwon, Tae-Hwan; Østergaard Jensen, Erik; Nielsen, Søren; Maunsbach, Arvid B

    2004-01-01

    In a rat model, lithium treatment is associated with polyuria and severe downregulation of aquaporin-2 (AQP2) protein in the inner medulla (IM) or in the whole kidney. However, it is not known (1) to what extent this downregulation occurs at the mRNA level; (2) whether the main sodium transporter of the nephron, Na,K-ATPase, is regulated in parallel at the mRNA level, and (3) whether lithium treatment induces zonal or segmental differences in AQP2 and Na,K-ATPase mRNA levels. We examined the changes in mRNA expression levels for AQP2 and Na,K-ATPase in kidney cortex, inner stripe of the outer medulla (ISOM), and IM of rats treated with lithium orally using semiquantitative Northern blot analyses and in situ hybridization at the light and electron microscopic levels. The AQP2 mRNA levels decreased significantly (p dabetes insipidus and moderately decreased Na,K-ATPase mRNA levels in the ISOM and in the IM. The results suggest that decreased mRNA expressions of AQP2 and Na,K-ATPase contribute to the development of lithium-induced nephrogenic diabetes insipidus. Copyright 2004 S. Karger AG, Basel

  10. Patogenesis of pipe-stem fibrosis of the liver (experimental observation on murine Schistosomiasis Patogenia da fibrose "pipe-stem" do fígado (observações experimentais na esquistossomose murina

    Directory of Open Access Journals (Sweden)

    Zilton A. Andrade

    1987-09-01

    Full Text Available Mice infected with 30 cercariae of Schistosoma mansoni developed portal and septal fibrosis due to the massive and concentrated deposition of eggs in the periportal areas which occurred following the 16th week after infection. The lesion resembled pipe-stem fibrosis seen in human hepatosplenic schistosomiasis in the following characters: portal fibrosis interconnecting portal spaces as well as portal spaces and central canals; portal inflammation; periovular granulomas; vascular obstruction and telangiectasia. The liver parenchyma maintained its normal architecture. Vascular injection techniques with Indian ink and vinylite revealed that the portal system developed numerous dilated collateral venules coming from the large and medium-sized portal branches, about 10 weeks after schistosome infection. The lodging of schistosome eggs into these collaterals resulted in granulomatous inflammation and fibrosis along all the portal tracts, thus forming the pipe-stem lesion. Although not readily demonstrable grossly, the pipe-stem fibrosis of murine schistosomiasis has many similarities with the human lesion and can be considered to have the same basic pathogenesis.Camundongos infectados com 30 cercárias do Schistosoma mansoni desenvolveram fibrose porta em virtude de um depósito progressivo e concentrado de ovos na região periportal, o que aconteceu a partir da 16ª semana da infecção. Esta fibrose certas características da chamada fibrose "pipe-stem" do homem vista na forma hepatoesplênica da esquistossomose, tais como obstrução das radiculas porta, telangiectasia, conexão fibrosa entre espaços porta e entre estes e veias centrais, além de certo grau de fibrose septal, presença dos granulomas em várias fases evolutivas e reação inflamatória crônica difusa, enquanto o parênquima hepático mantinha a sua estrutura lobular normal. As técnicas de injeção vascular com tinta da China e com vinilite feitas no sistema porta permitiram a

  11. Níveis séricos de globulinas e a intensidade da fibrose hepática em pacientes com esquistossomose mansônica Serum globulin levels and intensity of hepatic fibrosis in patients with mansonic schistosomiasis

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    Henrique S. T. Correia

    2009-09-01

    Full Text Available CONTEXTO: Tem sido descrita correlação entre os níveis séricos de globulinas e o grau de fibrose hepática nas hepatites crônicas, mas não se encontram relatos na esquistossomose mansônica. OBJETIVO: Avaliar os níveis séricos de globulinas e de IgG, e a intensidade da fibrose periportal mensurada pela ultrassonografia em pacientes com esquistossomose mansônica. MÉTODOS: Entre novembro de 2006 e fevereiro de 2007, foram estudados 41 pacientes que preencheram ficha clínica e realizaram dosagens de IgG por imunoturbidimetria e de globulinas indiretamente pelo método do biureto. A ultrassonografia foi realizada por um único pesquisador, seguindo os protocolos do Cairo e de Niamey. RESULTADOS: A média de idade foi 41 anos, sendo 25 pacientes (61% do sexo feminino. Dez dos 41 pacientes (24% apresentaram elevação dos níveis séricos de globulinas e 21 (51% dos de IgG. Conforme a classificação do Cairo, 21 pacientes apresentaram grau I de fibrose, 18 grau II e 2 grau III, e pela classificação de Niamey 8 apresentavam padrão C, 20 D e 13 E. Aqueles com graus II ou III de fibrose tiveram maiores níveis de IgG do que os de grau I (P = 0,047, assim como aqueles que apresentaram padrões D e E em relação ao C (P = 0,011. Não houve associação entre os níveis de globulinas e o grau ou padrão de fibrose. CONCLUSÃO: Em pacientes com esquistossomose mansônica, observou-se elevação dos níveis séricos de IgG de acordo com a progressão do grau e do padrão de fibrose periportal, mas o mesmo não se observou com os níveis de globulinas.BACKGROUND: A correlation between the levels of serum globulins and the hepatic fibrosis degree in chronic hepatitis was described, but reports in schistosomiasis mansoni have not been found. OBJECTIVE: To evaluate the serum globulins and IgG levels, and periportal fibrosis intensity measured by ultrasound in patients with schistosomiasis mansoni. METHODS: Between November, 2006 and February 2007

  12. How useful is GLUT-1 in differentiating mesothelial hyperplasia and fibrosing pleuritis from epithelioid and sarcomatoid mesotheliomas? An international collaborative study.

    Science.gov (United States)

    Husain, Aliya N; Mirza, M Kamran; Gibbs, Allen; Hiroshima, Kenzo; Chi, Yiqing; Boumendjel, Redouane; Stang, Nolwenn; Krausz, Thomas; Galateau-Salle, Francoise

    2014-03-01

    Mesothelial hyperplasia (MH) and fibrosing pleuritis (FP) can be difficult to distinguish from epithelioid (MM-E) and sarcomatoid (MM-S) malignant pleural mesotheliomas. GLUT-1 has shown variable results regarding its sensitivity and specificity when used to evaluate mesothelial proliferations. We evaluated the utility of GLUT-1 immunostaining in differentiating MH and FP from MM-E and MM-S. In this retrospective study, diagnostically well-characterized cases (MH=31, FP=29, MM-E=41, MM-S=29) were collected and manually stained for GLUT-1. All slides were visually scored by 2 pathologists; using the following system: 0%, 1+ 1-25%, 2+ 26-50% and 3+ >51% cells staining. All benign cases (n=60) were negative for GLUT-1 while 45 of 78 (58%) MM [21 of 41 (50%) MM-E, 21 of 29 (72%) MM-S and 3 of 3 biphasic mesothelioma (100%)] had 1+ to 3+ staining. Of the MM-E, 10 had 1+, and 11 had 2+ staining; of the MM-S 3 had 1+, 15 had 2+ and 3 had 3+ staining. Both sarcomatoid and epithelioid components of the 3 biphasic mesotheliomas revealed 1+ staining. All 5 desmoplastic MM were negative. Positive staining with GLUT-1 is helpful since it is present in half of MM-E and three-quarter of MM-S. Although all reactive mesothelial lesions were negative, the absence of immunoreactivity does not exclude the diagnosis of MM. As with all IHC stains used for diagnostic purposes, GLUT-1 has to be a part of a panel, and the results interpreted in the context of clinical, radiological and histological findings. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

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

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    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

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

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    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

  15. 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

  16. Role of partial hepatectomy on Capillaria hepatica-induced hepatic fibrosis in rats Papel da hepatectomia parcial sobre a fibrose septal do fígado induzida pela Capillaria hepatica em ratos

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    Carolina Cincurá Silva Santos

    2007-10-01

    Full Text Available It is known that hepatic fibrosis may regress following partial hepatectomy, since the hepatic parenchyma regenerates very rapidly, but not the excess of fibrous tissue. The present study evaluated this hypothesis by observing the behavior of systematized septal fibrosis induced by either 30 or 90-day-old Capillaria hepatica infection, in rats subjected to partial hepatectomy. The results revealed that the morphology of the fibrosis was unaffected, but its relative quantity within the microscope field appeared significantly decreased, as a consequence of the increased liver tissue mass following regeneration.Sabe-se que a fibrose hepática pode sofrer uma redução em seqüência uma hepatectomia parcial, uma vez que o parênquima hepático se regenera muito rápido, mas não o excesso de tecido fibroso. O presente trabalho avalia esta hipótese ao observar como se comporta a fibrose septal sistematizada induzida pela Capillaria hepática no rato, após infecção de 30 ou 90 dias de duração, em animais submetidos à hepatectomia parcial. Os resultados revelaram que a fibrose em si mesma não foi afetada na sua morfologia, mas a sua quantidade relativa apareceu diminuída significativamente no campo microscópico como conseqüência do aumento da massa de tecido hepático pós-regeneração.

  17. Perdas econômicas pela condenação em matadouro frigorífico de fígados de bovino por fibrose causada por ingestão de Braquiaria spp

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    Tatiane C. Faccin

    2015-06-01

    Full Text Available Resumo: A ingestão crônica de braquiária induz lesões hepáticas em bovinos caracterizadas por fibrose, atrofia do lobo esquerdo, hipertrofia compensatória do lobo direito e proliferação de ductos biliares. Tipicamente, essas lesões são associadas com agregados de macrófagos espumosos no parênquima hepático. Nesse trabalho foram estudados fígados com essas lesões num abatedouro frigorífico do Brasil Central e as perdas econômicas causadas pela condenação de tais fígados afetados foram estimadas. Durante o período estudado, 488.476 bovinos foram abatidos nesse matadouro frigorífico, dos quais 5.295 fígados foram condenados devido à fibrose, e 192 com lesão hepática foram estudados. Cálculos econômicos permitiram inferir que essas condenações representaram uma perda de R$ 108.817,60. Conclui-se que a condenação de fígados em razão de fibrose induzida pela ingestão de braquiária causa uma perda significativa para a indústria de carne e produtos bovinos devido à condenação de 23,6 toneladas de fígado em um ano em apenas um frigorífico, com perdas estimadas acima de R$ 100.000,00.

  18. Simultaneous bilateral spontaneous pneumothorax in an adult patient with cystic fibrosis Pneumotórax espontâneo simultâneo bilateral em um paciente adulto com fibrose cística

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    Kamlesh Mohan

    2009-02-01

    Full Text Available Pneumothorax is a common complication in cystic fibrosis and is associated with worsening of lung function. However, bilateral simultaneous pneumothorax in cystic fibrosis is a rare condition. We describe the case of a 17-year-old female with cystic fibrosis who presented with spontaneous pneumothorax. Clinically, she presented right-sided chest pain and progressive breathlessness. The pneumothorax failed to resolve after the initial treatment (chest drainage. However, the patient was later successfully treated with additional chest drainage and talc pleurodesis. We also discuss the etiology and management of pneumothorax in patients with cystic fibrosis, since pneumothorax is associated with increased morbidity and mortality among such patients.O pneumotórax é uma complicação comum na fibrose cística e está associado com a piora da função pulmonar. Entretanto, o pneumotórax simultâneo bilateral na fibrose cística é um achado raro. Nesse artigo é descrito o caso de uma paciente de 17 anos com fibrose cística que cursou com pneumotórax espontâneo simultâneo bilateral. Clinicamente ela apresentou dor torácica à direita e dificuldade respiratória progressiva. Embora o pneumotórax não tenha respondido bem ao tratamento inicial (drenagem torácica, ela foi posteriormente tratada com drenagem e pleurodese com talco, com sucesso. São discutidos também a etiologia e a conduta nesta condição, que está associada com o aumento da morbidade e mortalidade.

  19. Fibrosis in tubularized skin flaps in rats, using silicon catheters with two different degrees of flexibility: experimental model Fibrose em retalhos tubulizados de pele de ratos usando cateteres de diferentes flexibilidades como molde: modelo experimental

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    Antonio Henrique Rodrigues dos Passos

    2008-06-01

    Full Text Available PURPOSE: Microscopically evaluate the intensity of fibrosis in tubularized skin flaps on the back of Wistar rats, using silicon molds with different degrees of flexibility. METHODS: Twenty rats were submitted to three tubularized skin flaps on their backs. In two tubular flaps, we placed, as a mold, silicon catheters with different degrees of flexibility and removed them on the seventh day after the surgery. They were divided into two groups and euthanized, on the seventh and twenty-first days respectively after the surgery for the collection of the pieces, coloration with Masson tricromic, quantification of the area of each sample and comparison among the groups. RESULTS: Fibrosis was less intense on the tubular flaps where a catheter was not used as a mold. No significant difference was verified among the pieces with the silicon catheters, but there was a tendency of less fibrosis on the tubules with the most flexible catheter. CONCLUSION: There was no significant difference among the two catheter types. Fibrosis was less intense in the flaps where the mold was not used.OBJETIVO: Avaliar microscopicamente a intensidade da fibrose em retalhos tubulares de pele do dorso de ratos Wistar em uso de moldes de silicone de diferentes flexibilidades. MÉTODOS: Vinte animais foram submetidos à confecção de três retalhos tubulizados de pele na região dorsal. Em dois túbulos foram colocados, como molde, cateteres de silicone com flexibilidades diferentes e retirados no sétimo dia após a cirurgia. Foram divididos em dois grupos e sacrificados, respectivamente, no sétimo e vigésimo primeiro dia após a cirurgia para a coleta das peças, coloração pelo tricrômico de Masson, quantificação da área de cada amostra e comparação entre os grupos. RESULTADOS: A fibrose foi menos intensa nos retalhos tubulares em que não se usou cateter como molde. Não se verificou diferença significativa entre os retalhos com os cateteres de silicone, mas sim

  20. Efeito da ressecção do íleo terminal na fibrose hepática secundária à ligadura do ducto hepático comum em ratas

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    Evandro Luis de Oliveira Costa

    Full Text Available OBJETIVO: A evolução para fibrose hepática e, posteriormente, para cirrose são fatos bem estabelecidos na colestase extra-hepática prolongada. A despeito dos avanços nos métodos diagnósticos e terapêuticos, essas complicações continuam de difícil solução, principalmente, quando não é possível reverter a causa da colestase. Neste trabalho, procurou-se verificar, em modelo experimental de colestase pela ligadura do ducto hepático comum, se a exclusão do íleo terminal reduziria o desenvolvimento de fibrose hepática. Não houve abordagem direta da causa da colestase, mas atuou-se nos mecanismos de secreção e regulação do fluxo biliar êntero-hepático. MÉTODO: Foram utilizadas trinta e cinco ratas Wistar, distribuídas em três grupos: Grupo 1, apenas laparotomia e laparorrafia; Grupo 2, ligadura do ducto hepático comum; Grupo 3, ligadura do ducto hepático comum associada a ressecção do íleo terminal, com reconstrução do trânsito intestinal, por meio de anastomose íleo-cólon ascendente. Após trinta dias, os animais foram mortos e o fígado de cada rata foi retirado, para a análise histológica. RESULTADOS: Os resultados foram submetidos a análise estatística pelo teste de Kuskal-Wallis, com nível de significância de 95 % (p < 0,05. Verificou-se que houve fibrose hepática nos grupos 2 e 3, porém sem cirrose. O Grupo 3 apresentou fibrose menos acentuada que o Grupo 2. CONCLUSÕES: Conclui-se que a ressecção do íleo terminal associa-se a menor alteração histológica, no fígado de ratas, decorrente de colestase obstrutiva.

  1. 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.

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

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    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.

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

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    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.

  4. Bronchial artery embolization for therapy of pulmonary bleeding in patients with cystic fibrosis; Bronchialarterienembolisation bei rezidivierenden oder akuten pulmonalen Blutungen von Patienten mit zystischer Fibrose

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    Thalhammer, A.; Jacobi, V.; Balzer, J.; Straub, R.; Vogl, T.J. [Frankfurt Univ. (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie

    2002-05-01

    Introduction: Acute pulmonary emergencies in patient with cystic fibrosis (CF) can be found in cases of pneumothorax as well as hemoptysis. If the bleeding cannot be stopped by conservative methods, an embolization of the bronchial arteries should be done. Materials and Method: 11 patients were embolized using a combination of PVA particles and microcoils. Results: From January 1996 to June 2001 17 bronchial arteries in 11 patients were embolized. 7 patients suffered from chronical hemoptysis, 4 patients had an acute hemoptysis. In 4 patients both sides were embolized, in 3 patients only one side. The remaining 4 patients needed a second intervention, embolizing the other side. The primary embolizated bronchial artery was still closed in all 4 patients. In 1 patient the selective catheterization of a bronchial artery was not successful, thus the embolization could not be carried out. 1 patient died 5 days after the intervention due to a fulminant pneumonia (Pseudomonas aeruginosa) without recurrent bleeding. In two patients atypical branches from intercostal arteries feeding the bronchial arteries were detected and successfully embolized. All patients profited from the therapy, as bleeding could be stopped or at least be reduced. 3 patients suffered from back pain during or after intervention. There were no severe complications like neurological deficiencies or necroses. (orig.) [German] Einleitung: Akute pulmonale Notfaelle bei Patienten mit zystischer fibrose (CF) sind neben auftretenden Pneumothoraces, Haemoptysen oder Haemoptoe. Sind die Blutungen unter konservativen Massnahmen nicht zu beherrschen, steht als radiologische Intervention die Bronchialarterienembolisation zur Verfuegung. Material und Methodik: Bei 11 Patienten wurde eine Embolisation der Bronchialarterien mit PVA-Partikeln und Mikrospiralen durchgefuehrt. Ergebnisse: Von Januar 1996 bis Juni 2001 wurden bei 11 Patienten 17 Bronchialarterien embolisiert. 7 Patienten hatten chronisch rezidivierende

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

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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 < 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.

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

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    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

  7. Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator em pacientes com fibrose cística em um centro de referência no Brasil

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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 < 0,001. A população analisada está fora do equilíbrio. Os valores esperados são, para os respectivos genótipos -/-, ΔF508/- e ΔF508/ΔF508: 32,22% (60,48 pacientes, 47,93% (80,04 pacientes e 15,86% (26,48 pacientes. CONCLUSÕES: Na população analisada, a mutação ΔF508 se mostrou menos prevalente em relação ao alelo sem a mutação. A frequência encontrada neste estudo foi semelhante à de outras regiões do Brasil e do mundo, principalmente devido à origem predominantemente caucasoide da população incluída no estudo.

  8. Avaliação endoscópica nasal de crianças e adolescentes com fibrose cística Nasal endoscopic evaluation of children and adolescents with cystic fibrosis

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    Letícia Paiva Franco

    2009-12-01

    Full Text Available As principais manifestações otorrinolaringológicas da Fibrose Cística são a rinossinusite crônica e a polipose nasossinusal, com diferentes apresentações clínicas. OBJETIVO: Caracterizar, do ponto de vista nasossinusal, as crianças e adolescentes com fibrose cística por meio de um questionário, do exame clínico e da endoscopia nasal. FORMA DE ESTUDO: Clínico descritivo transversal. MATERIAL E MÉTODO: Avaliação de 100 crianças e adolescentes com fibrose cística por meio de um questionário específico, exame físico otorrinolaringológico, endoscopia nasal e estadiamento endoscópico dos pólipos nasais. RESULTADOS: Os sintomas mais frequentes foram: tosse (45%, respiração oral (44%, distúrbios do sono (42% e obstrução nasal (37%. Vinte e oito pacientes (28% apresentaram secreção mucopurulenta nasal e 41% apresentaram abaulamento medial da parede lateral do nariz. Os pólipos nasais foram identificados em apenas 14% dos casos, nenhum deles era obliterante. CONCLUSÃO: O questionário, o exame clínico e especialmente a endoscopia nasal permitiram uma avaliação detalhada das características nasais das crianças e adolescentes com fibrose cística. Alguns achados foram discordantes da literatura, principalmente a baixa prevalência encontrada de pólipos nasais, e parecem estar relacionados com características próprias da população estudada. A melhor caracterização desse grupo de pacientes, do ponto de vista otorrinolaringológico, contribui para uma adequada abordagem multidisciplinar.The main otorhinolaryngological manifestations of CF are chronic rhinosinusitis and nasal polyposis, with different clinical presentations. AIM: To characterize children and adolescents with cystic fibrosis through a questionnaire, an ENT clinical examination and nasal endoscopy. STUDY DESIGN: Cross-sectional clinical descriptive. MATERIAL AND METHOD: Assessment of 100 children and adolescents with cystic fibrosis through a specific

  9. Validação lingüística dos questionários de qualidade de vida em fibrose cística Linguistic validation of cystic fibrosis quality of life questionnaires

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    Tatiana Rozov

    2006-04-01

    Full Text Available OBJETIVO: O propósito deste estudo foi validar em português as quatro versões de questionários de qualidade de vida em fibrose cística, desenvolvidos para pacientes com fibrose cística de 6 a 11 anos, de 12 a 13 e mais de 14 anos, e para os pais de pacientes de 6 a 13 anos. MATERIAL E MÉTODOS: A validação das quatro versões de questionários de qualidade de vida em fibrose cística (de 35 e 50 questões, abrangendo nove domínios constou de: versão inglês-português, aplicação-piloto, tradução retrógrada e aprovação da autora da versão inglesa. As quatro versões foram aplicadas a 90 pacientes estáveis (30 de cada grupo etário e aos pais de doentes de 6-13 anos (n = 60, em duas entrevistas, com intervalo de 13-17 dias. Foi avaliada a reprodutibilidade pelo coeficiente de correlação intraclasse (CCI. O estudo foi aprovado pela comissão de ética em pesquisa da instituição. RESULTADOS: A reprodutibilidade foi boa (CCI = 0,62 a 0,99 para as quatro versões, em todos os domínios, exceto o digestivo (CCI = 0,59 e CCI = 0,47 para os grupos etários de 6 a 11 e 12 a 13 anos, respectivamente, e domínio papel social (CCI = -0,19 para o grupo acima de 14 anos. CONCLUSÃO: A tradução e a adaptação à língua e à cultura brasileiras das quatro versões de questionários de qualidade de vida em fibrose cística mostraram-se de fácil entendimento e boa reprodutibilidade.OBJECTIVE: The purpose of this study was to validate the Portuguese translations of four cystic fibrosis quality of life questionnaires (CFQ. The first three were developed for patients with cystic fibrosis aged from 6 to 11 years, from 12 to 13 years and 14 years or more, while the fourth was developed for the parents of patients aged 6 to 13 years. MATERIAL AND METHODS: The four CFQ translations contained from 35 to 50 questions covering nine domains and were validated as follows: translation from English to Portuguese, pilot application, back translation

  10. 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

  11. Diagnóstico clínico e laboratorial da fibrose cística : métodos clássicos e novas perspectivas = Clinical and laboratorial diagnosis of cystic fibrosis: classical methods and new perspectives

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    Maria de Fátima Corrêa Pimenta Servidoni

    2014-01-01

    Resumo: A Fibrose Cística (FC) é uma doença genética autossômica recessiva, comum em caucasianos. Tem incidência de 1: 2.500 a 1: 6.000 nascidos vivos e 1: 25 em portadores sãos na Europa e EUA e no Brasil a incidência estimada é de 1:10.000 nascidos vivos. É causada pela presença de dois genes CFTR (do inglês Cystic Fibrosis Transmembrane Conductance Regulator) mutados, que codificam uma proteína também denominada CFTR. A CFTR é o principal canal de Cloro (Cl-), é expressa na membrana apical...

  12. 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

  13. Colonização microbiana precoce de pacientes identificados por triagem neonatal para fibrose cística, com ênfase em Staphylococcus aureus Early microbial colonization of cystic fibrosis patients identified by neonatal screening, with emphasis on Staphylococcus aureus

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    Helena A. P. H. M. Souza

    2006-10-01

    Full Text Available OBJETIVOS: Avaliar prospectivamente a colonização bacteriana de pacientes com fibrose cística identificados por triagem neonatal. Avaliar a suscetibilidade a antimicrobianos e caracterizar molecularmente as cepas de Staphylococcus aureus isoladas da orofaringe dos pacientes no período do estudo. MÉTODOS: Foram estudados 25 pacientes com fibrose cística, identificados por tripsina imunorreativa e com diagnóstico confirmado por duas ou mais provas de suor, atendidos regularmente no ambulatório de fibrose cística do Hospital de Clínicas da Universidade Federal do Paraná. Foram coletadas amostras de orofaringe com swab e cultivadas por métodos rotineiros; as colônias bacterianas foram identificadas fenotipicamente e testadas quanto à suscetibilidade a antimicrobianos. Os isolados de S. aureus foram submetidos a tipagem molecular por eletroforese em campo pulsado. RESULTADOS: De um total de 234 amostras de orofaringe, S. aureus foi isolado em maior número (76% dos pacientes, 42% das amostras, seguido de Pseudomonas aeruginosa (36% dos pacientes, 16% das amostras e Haemophilus spp. (76% dos pacientes; 19% das amostras. Dos 19 pacientes colonizados com S. aureus, foram obtidos 73 isolados, 18 oxacilina-resistentes (24,6%, isolados de dois pacientes, com perfis eletroforéticos idênticos ao do clone brasileiro. Os demais isolados oxacilina-sensíveis distribuíram-se entre 18 perfis eletroforéticos distintos. CONCLUSÃO: Observou-se uma maior prevalência de S. aureus, com isolamento mais precoce em relação aos outros patógenos pesquisados. Os isolados multissensíveis distribuíram-se em clones distintos, caracterizando a não transmissibilidade entre as cepas comunitárias. Os S. aureus resistentes a oxacilina isolados apresentaram perfis eletroforéticos idênticos, provavelmente adquiridos no ambiente hospitalar. P. aeruginosa foi pouco freqüente na população estudada.OBJECTIVES: To assess bacterial colonization prospectively

  14. 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

  15. Papel do Enfermeiro na Assistência a Pacientes Pediátricos e Adolescentes com Fibrose Cística no Hospital de Clínicas de Porto Alegre

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    Maria do Carmo da Rocha Laurent

    2011-08-01

    Full Text Available A Fibrose Cística é uma doença genética, sistêmica, manifestando-se principalmente através de alterações no trato respiratório e digestório. O tratamento é diário e rigoroso cujo objetivo é de manutenção da saúde, evitando a exarcebação da doença. Este relato pretende dar visibilidade ao trabalho realizado pelas enfermeiras no Hospital de Clínicas de Porto Alegre no cuidado à criança e adolescente com Fibrose Cística e suas famílias, através de atividades realizadas pelo enfermeiro no ambulatório e internação hospitalar. Entre estas atividades destaca-se o grupo de sala de espera, participação em reuniões multidisciplinares, implementação de rotinas, treinamento da equipe de enfermagem, cuidados na prevenção da infecção cruzada, elaboração da lista de pacientes para a internação  e implementação do tratamento hospitalar. A enfermeira realiza a assistência, visando uma melhor qualidade de vida a estes pacientes e suas famílias, através da implementação de cuidados adequados e de orientações específicas. As intervenções realizadas, pretendem a aceitação da doença, a melhora clínica do paciente, o controle dos sintomas, o conhecimento da doença e do regime terapêutico, o comportamento de adesão ao tratamento e a participação do familiar no cuidado. Acredita-se que a apresentação da dinâmica de trabalho e atividades descritas neste relato, possa contribuir com outros  serviços de enfermagem que atendam esta clientela, na busca das melhores práticas.

  16. Caracterização das Crianças e Adolescentes com Fibrose Cística Atendidos em um Centro de Referência no Sul do Brasil

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    Clarissa Pitrez Abarno

    2011-08-01

    Full Text Available Trata-se de um estudo documental retrospectivo quantitativo, com o objetivo de caracterizar as crianças e adolescentes com Fibrose Cística atendidos no Hospital de Clínicas de Porto Alegre no período de 2007 e 2008. A população deste estudo caracteriza-se por 100% dos pacientes acompanhados pela Equipe da Pneumologia Infantil do Hospital, totalizando 166 sujeitos. A análise de dados utilizada foi através de freqüências absolutas, relativas, valores de média, mediana, desvio padrão e foi utilizado o Teste U de Mann Whitney. Os dados foram coletados no banco de dados eletrônicos e registros da enfermeira responsável pelo atendimento desses pacientes. A mediana de idade dos pacientes é de 10,5 anos; 56% são do sexo masculino. Quase metade da população (48,8% teve o diagnóstico antes do primeiro ano de vida. A bactéria de mais prevalente nessa população foi o Staphylococcus aureus (88,6%., seguida de Pseudomonas aeruginosa mucóide (55,4%, Pseudomonas aeruginosa (39,2%, Complexo Burkholderia cepacia (22,9%, e Staphylococcus aureus resistente à meticilina (20,5%. Os pacientes que necessitaram de hospitalização tiveram mediana de uma internação e apresentaram mediana de 22 dias internados no período de dois anos. Dentre os que compareceram às consultas ambulatoriais, apresentaram uma mediana de sete consultas nesse mesmo período. Foram transferidos para a Equipe de Adultos 15 pacientes. Três foram a óbito. Estudos semelhantes a esse possibilitam o conhecimento das respostas desses pacientes ao tratamento e adequação dos cuidados aos pacientes com Fibrose Cística.

  17. Pico do fluxo expiratório na avaliação da função pulmonar na fibrose cística Peak expiratory flow rate in the management of cystic fibrosis

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    Paulo A.M. Camargos

    2002-02-01

    Full Text Available Objetivo: avaliar o valor do pico de fluxo expiratório, obtido através de medidores portáteis, como método alternativo de acompanhamento da função pulmonar na fibrose cística. Métodos: quarenta e nove pacientes, de 5 a 19 anos, clinicamente estáveis e aptos a realizar a manobra para obtenção do pico do fluxo foram incluídos no estudo. Na mesma visita, pontuou-se o escore de Shwachman-Kulczycki e registrou-se o valor do pico do fluxo expiratório. Analisou-se a correlação entre esses dois parâmetros pela regressão linear, com nível de significância de P = 0,05. Resultados: obteve-se uma correlação discreta, mas estatisticamente significante, entre os valores absolutos e percentuais desse parâmetro funcional com o escore clínico-radiológico (r = 0,31, P = 0,02 e r = 0,30, P = 0,03, respectivamente. Conclusões: conclui-se que a significância estatística observada não corresponde necessariamente a uma relevância clínica e, portanto, a função pulmonar na fibrose cística deve ser avaliada pela espirometria convencional.Objective: to verify the role of peak expiratory flow, measured through portable meters, as an alternative test to assess pulmonary disease in cystic fibrosis. Methods: forty-nine patients aged five to 19 years old in stable health condition and able to perform the peak expiratory flow maneuver were included. In the same visit, Shwachman-Kulczycki score was recorded. Linear regression was used to assess the correlation between the Shwachman-Kulczycki score and the peak expiratory flow rate. A P value of 0.05 was considered to be significant.Results: a slight, but statistically significant correlation between absolute and percent values for this functional parameter and the Shwachman-Kulczycki score (r = 0.31, P = 0.02 and r = 0.30, P = 0.03, respectively was found. Conclusions: although this correlation was statistically significant, these findings are not clinically relevant, i.e., the lung involvement

  18. 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

  19. Síndrome mieloproliferativa transitória associada à trissomia do 21 e fibrose hepática Transient myeloproliferative disorder associated with trisomy 21 and liver fibrosis

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    Anna L. Sant'Anna

    2002-03-01

    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.Neonates with Down's Syndrome (DS occasionally show an excess of blast cells in their peripheral blood and bone marrow. The leukocyte counts are high and just the evolution can discriminate the diagnosis of Transient

  20. 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

  1. 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

  2. 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

  3. Participação das plaquetas no processo de fibrose dos pacientes com esquistossomose mansônica Participation of platelets in the process of fibrosis in patients with mansonic schistosomiasis

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    Sheila Soares

    2007-06-01

    Full Text Available O objetivo deste estudo foi avaliar a ativação plaquetária através da P-selectina e o conteúdo de PDGF-AB e TGFbeta1, nos pacientes com esquistossomose que desenvolveram fibrose (F3, naqueles que não tiveram esta manifestação (F0 e nos controles (C. Os resultados mostraram que a percentagem de P-selectina nas plaquetas sem estímulo de agonistas foi de 10,6% nos F3; 11,1% nos FO, e 6,3% nos C e após a adição de ADP/adrenalina, foi de 44%; 25,3% e 42%, respectivamente. A dosagem do PDGF-AB e TGFbeta1 por plaquetas foi de 11,016ng/dL (F3; 3,172 ng/dL (F0 e 5,01ng/dL (C e, (0,012ng/dL (F3; 5,27ng/dL (F0 e 4,66ng/dL (C, respectivamente. Em relação à P-selectina, concluímos que as plaquetas dos pacientes com esquistossomoses, apesar de estarem pré ativadas, mantiveram-se responsivas aos agonistas. O TFGbeta1 não apresentou diferença entre os três grupos, enquanto o PDGF-AB foi significantemente maior no grupo F3, sugerindo a participação deste no desenvolvimento da fibrose.The aim of this study was to evaluate platelet activation through P-selectin, and PDGF-AB and TGFbeta1 content, in schistosomiasis patients who developed fibrosis (F3 and who did not present this (F0, and in a control group (C. The results showed that the percentage of P-selectin in platelets without agonist stimulation was 10.6% in F3, 11.1% in F0 and 6.3% in C. After the addition of ADP/adrenaline, the percentages were 44%, 25.3% and 42%, respectively. The PDGF-AB and TGFbeta1 contents per platelet were 11,016ng/dl (F3, 3,172ng/dl (F0 and 5.01ng/dl (C and 0,012ng/dl (F3, 5.27ng/dl (F0 and 4.66ng/dl (C, respectively. Concerning the P-selectin, we can conclude that platelets from patients with schistosomiasis continued to be responsive to agonists, despite being pre-activated. There were no differences in TGFbeta1 between the groups, but the PDGF-AB content was significantly higher in F3. This suggests that PDGF-AB may have some participation in the development

  4. Application of expanded inert polytetrafluorethylene membrane in prevention of post laminectomy fibrosis in wistar rats Estudo do uso da membrana de politetrafluoroetileno inerte expandido para a prevenção da fibrose pós laminectomia em ratos wistar

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    Tarcísio Eloy Pessoa Barros Filho

    2003-04-01

    Full Text Available Post laminectomy fibrosis in spine surgery has been responsible for a high rate of failure in a short or long term. Many of this patients develop chronic or recurrent pain after surgery of discal herniation, canal stenosis etc. Although there some doubts about the etiology of this problem, it was known that fibrosis interfere with the normal mobility of roots and spinal cord. This factor is considered as the most important aspect in the genesis of the surgical failures. To avoid postoperative fibrosis, a lot of materials of interposition between posterior spine muscles and dura mater were studied, without good response. This paper studied comparatively post laminectomy fibrosis in Wistar rats with the addition of the following materials to avoid it: control group (without interposition and expanded inert polytetrafluoroethylene membrane (Preclude Spinal Membrane®. It was observed that accurate surgical technique apparently is an important factor to prevent the formation of abundant scar tissue and that the expanded inert polytetrafluoroethylene membrane is an inert material.A fibrose pós laminectomia em cirurgias da coluna vertebral tem sido responsabilizada por um grande percentual das falhas nestas cirurgias, tanto a curto quanto a longo prazo. Muitos dos pacientes desenvolvem sintomas de dor crônica ou recorrente após tratamento cirúrgico de hérnias de disco, estenose de canal, etc. Apesar de ainda existirem dúvidas quanto à fisiopatologia do problema, sabe-se que a fibrose interfere na mobilidade normal das raízes e da medula espinal, fator este responsabilizado como o principal na gênese das falhas cirúrgicas. Para se evitar a fibrose pós-cirúrgica, vários materiais de interposição entre a musculatura posterior da coluna e a dura-máter foram estudados, sem grandes resultados. Neste trabalho foi feito o estudo da membrana de politetrafluoroetileno inerte expandido (Preclude Spinal Membrane® comparando-se a mesma com grupo

  5. Low coronary perfusion pressure is associated with endocardial fibrosis in a rat model of volume overload cardiac hypertrophy A redução da pressão de perfusão coronariana está associada com a fibrose endocárdica no modelo de hipertrofia por sobrecarga de volume em ratos

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    Maria Carolina Guido

    2004-01-01

    Full Text Available Left ventricular hypertrophy following volume overload is regarded as an example of cardiac remodeling without increased fibrosis accumulation. However, infarction is associated with increased fibrosis within the noninfarcted, hypertrophied myocardium, particularly in the subendocardial regions. It is conceivable to suppose that, as also occurs postinfarction, low coronary driving pressure may also interfere with accumulation of myocardial fibrosis following aortocaval fistula. PURPOSE: To investigate the role of acute hemodynamic changes in subsequent deposition of cardiac fibrosis in response to aortocaval fistula. METHOD: Aortocaval fistula were created in 4 groups of Wistar rats that were followed over 4 and 8 weeks: aortocaval fistula 4 and aortocaval fistula 8 (10 rats each and their respective controls (sham-operated controls - Sh, Sh4 and Sh8 (8 rats each. Hemodynamic measurements were performed 1 week after surgery. Hypertrophy and fibrosis were quantified by myocyte diameter and collagen volume fraction at the end of follow up. RESULT: Compared with Sh4 and Sh8, pulse pressure, left ventricular end-diastolic pressure, and +dP/dt were higher in aortocaval fistula 4 and aortocaval fistula 8, but -dP/dt was similar. Coronary driving pressure (mm Hg, used as an estimate of perfusion pressure, was lower in aortocaval fistula 8 (52.6 ± 4.1 than in Sh8 (100.8 ± 1.3, but comparable between aortocaval fistula 4 (50.0 ± 8.9 and Sh4 (84.8 ± 2.3. Myocyte diameter was greater in aortocaval fistula 8, whereas interstitial and subendocardial fibrosis were greater in aortocaval fistula 4 and aortocaval fistula 8. Coronary driving pressure correlated inversely and independently with subendocardial fibrosis (r² = .86, P No remodelamento que se segue às sobrecargas de volume não é descrito o aumento de fibrose miocárdica. Após o infarto, entretanto, há hipertrofia do miocárdio remoto com acúmulo de fibrose, particularmente no subendoc

  6. Diagnóstico de rinossinusite crônica em pacientes com fibrose cística: correlação entre anamnese, nasofibroscopia e tomografia computadorizada Diagnosis of chronic rhinosinusitis in patients with cystic fibrosis: correlation between anamnesis, nasal endoscopy and computed tomography

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    Letícia Boari

    2005-12-01

    Full Text Available O comprometimento nasossinusal é uma das principais manifestações otorrinolaringológicas da fibrose cística. Na literatura, é descrita a alta incidência de rinossinusite crônica nesses pacientes. Apesar de mais de 90% dos casos apresentarem panopacificação dos seios da face em exames de imagem, tais achados são raramente acompanhados de sintomas. Por isso, o profissional tem dificuldade de diagnosticar a doença nasossinusal em pacientes com fibrose cística. Dentre os métodos disponíveis para essa avaliação, o questionário (sintomas, a nasofibroscopia (sinais e a tomografia computadorizada têm grande importância. OBJETIVO: Avaliar o diagnóstico de rinossinusite crônica em pacientes portadores de fibrose cística por meio de questionário (anamnese; nasofibroscopia e tomografia computadorizada de seios da face e comparar os seus achados. FORMA DE ESTUDO: Clínico prospectivo transversal. MATERIAL E MÉTODO: Avaliação de 34 pacientes - maiores de 6 anos de idade e portadores de fibrose cística - por meio de questionário, nasofibroscopia (escore de Lund-Kennedy e tomografia computadorizada de seios da face (escore de Lund-Mackay. RESULTADOS: Observou-se que o diagnóstico de rinossinusite crônica foi positivo em: 20,58% dos casos pelo questionário; 73,52% dos casos pela nasofibroscopia e 93,54% dos casos pela tomografia computadorizada. A diferença entre os resultados foi estatisticamente significante. Verificou-se uma correlação de 55,1% entre as estratificações dos escores de nasofibroscopia e de tomografia computadorizada. CONCLUSÃO: O diagnóstico positivo da rinossinusite crônica foi predominantemente observado pela tomografia computadorizada. O diagnóstico negativo foi predominante na avaliação pelo questionário. Houve diferença estatisticamente significante entre os meios de avaliação. A nasofibroscopia é um excelente recurso que deve ser utilizado na avaliação de rinossinusite crônica em fibrose

  7. C27. Perfil epidemiológico das infecções bacterianas do aparelho respiratório em doentes com fibrose quística

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    Sofia Quintas

    2003-11-01

    Full Text Available 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. : With the aim of characterizing the evolution of the epidemiological profile of respiratory bacterial infections of patients having Cystic Fibrosis (CF, the authors conducted a retrospective analysis about it

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

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    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

  9. 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 fibro...... fibrosis. We believe that a reservoir for a sustained lung infection in these patients might be found in the nasal sinuses, and that the sinuses may act as a reservoir for reinfection after CF-patient lung transplants. Further studies are necessary....

  10. 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

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    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

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

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    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

  12. Estudo da freqüência de diabetes mellitus e intolerância à glicose em pacientes com fibrose cística Study of the frequency of diabetes mellitus and glucose intolerance in patients with cystic fibrosis

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    Flávia A.A. de Castro

    2001-08-01

    Full Text Available OBJETIVO: avaliar a freqüência de diabetes mellitus (DM e de intolerância à glicose nos pacientes com fibrose cística seguidos no Serviço de Gastropediatria do HC-FMRP-USP. MÉTODOS: foi realizado estudo analítico transversal de um grupo de 25 pacientes mucoviscidóticos do HC-FMRP-USP. Foram realizados testes orais de tolerância à glicose (OGTT com determinação concomitante da glicemia e da insulinemia. Foram obtidas áreas sob as curvas da glicemia (G e da insulinemia (I e calculada a relação I/G, correlacionando-as com o tempo de doença clinicamente manifesta e função exócrina pancreática. RESULTADOS: cinco pacientes apresentaram alterações: um é diabético e quatro são intolerantes à glicose e/ou hiperinsulinêmicos. Há correlação direta entre a área sob a curva de insulinemia e o tempo de mucoviscidose. Verificou-se também relação inversa estatisticamente significativa entre a área sob a curva de insulinemia e o índice I/G com o número de cápsulas de enzima/kg/dia. CONCLUSÕES: a freqüência de alterações na homeostase glicêmica nos mucoviscidóticos estudados é maior que na população em geral (20% da amostra total e 33% do grupo de pacientes com glicemia e insulinemia no OGTT. Assim, é importante a realização sistemática de testes de tolerância à glicose em mucoviscidóticos, visando à detecção precoce de anormalidades metabólicas para adequado tratamento.ABSTRACT OBJECTIVE: To evaluate the frequency of diabetes mellitus and glucose intolerance in patients with cystic fibrosis treated at the Pediatric Gastroenterology Service of HC-FMRP-USP. METHODS: A cross-sectional analytical study was conducted on a group of 25 patients with mucoviscidosis who were followed up at HC-FMRP-USP. Oral glucose tolerance tests (OGTT were performed, with simultaneous determination of glycemia and insulinemia. Areas under the curve were obtained for glycemia (G and insulinemia (I and the I/G ratio was

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

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    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

  14. 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

  15. TECHNICAL NOTE Nephrogenic systemic fibrosis (NSF) and ...

    African Journals Online (AJOL)

    and the absence of adequate clearance of Gd-containing agent results in precipitation of salts with anions which are then deposited in the interstitium of muscle, bone, liver and skin. More than 300 cases of NSF in patients with severe chronic renal insufficiency, acute renal failure or in those undergoing dialysis have.

  16. Nephrogenic systemic fibrosis: late skin manifestations

    DEFF Research Database (Denmark)

    Bangsgaard, Nannie; Marckmann, Peter; Rossen, Kristian

    2009-01-01

    confluent dermal plaques with thickening and hardening. In contrast, 3 patients presented with wrinkled, redundant skin as seen in cutis laxa. Patients with NSF had significantly poorer scores than control patients on the Daily Life Quality Index (mean [SD], 11. 4 [7.4] vs 1.5 [2. 3]; P

  17. Dermopathy associated with cetuximab and panitumumab: investigation of the usefulness of moisturizers in its management

    Directory of Open Access Journals (Sweden)

    Watanabe S

    2017-09-01

    Full Text Available Shoichi Watanabe,1 Motoki Nakamura,1 Hiroki Takahashi,2 Masayasu Hara,2 Kei Ijichi,3 Daisuke Kawakita,3 Akimichi Morita1 1Department of Geriatric and Environmental Dermatology, 2Department of Gastroenterological Surgery, 3Department of Neuro-otolaryngology, Nagoya City University Graduate School of Medical Science, Nagoya, Japan Aims: Limited data regarding the objective evaluation of skin exsiccation caused by epidermal growth factor receptor (EGFR inhibitors exist. Objective indices were applied to evaluate the usefulness of a moisturizer against skin exsiccation associated with the use of EGFR inhibitors in cancer patients. Patients and methods: Patients with either colorectal or head and neck cancer treated with either cetuximab or panitumumab were randomly assigned 1:2 to the prophylactic-treatment arm, where participants received prophylactical moisturizer treatment (heparinoid preparation, Hirudoid®, or to the symptomatic-treatment arm, where moisturizer was applied after the onset of cutaneous symptoms. Patients were observed for 6 weeks after the start of the administration of EGFR inhibitor. Results: A total of 15 patients were included and assessed: 6 in the prophylactic treatment group and 9 in the symptomatic treatment group. We evaluated the effect of EGFR inhibitors on the physiologic function of the skin. Administration of EGFR inhibitors resulted in a continued reduction in the moisture content of the horny layer and a decrease in cutaneous sebum levels. Skin observation revealed frequent development of an acneiform rash and significantly higher exsiccation and exfoliation scores. Administration of EGFR inhibitor was associated with a decrease in the horny layer moisture content and lower cutaneous sebum levels in the symptomatic treatment group. In contrast, levels of both the indicators were increased in the prophylactic treatment group. Moreover, the EGFR inhibitor-associated increase in exsiccation and exfoliation scores were minimized in the prophylactic treatment group relative to the symptomatic treatment group. Conclusion: Application of a moisturizer is effective against dry skin induced by the administration of an EGFR inhibitor. Keywords: EGFR inhibitor, moisturizer, colorectal cancer, head and neck cancer, prophylactical moisturizer treatment, heparinoid preparation, skin exsiccation

  18. 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

  19. Lola tinha uma coisa: construção de um livro educativo para crianças com fibrose cística Lola tenía una cosa: construcción de un libro educativo para niños con fibrosis cística Lola had one thing: building an educational book for children with cystic fibrosis

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    Tainá Maués Pelúcio Pizzignacco

    2012-01-01

    Full Text Available Este trabalho descreve a experiência da construção de um livro de história com o objetivo de auxiliar profissionais de saúde e familiares a contarem para crianças menores de 5 anos sobre seu diagnóstico de Fibrose Cística. O livro traz a história de Lola, uma criança que descobre que tem Fibrose Cística e cria um monstro imaginário como representação da doença. A experiência emergida da prática profissional em um ambulatório multiprofissional de atendimento a esses pacientes, traduz a importância de conciliar teoria e prática, além da interdisciplinaridade para a construção de estratégias inovadoras e criativas no desenvolvimento do cuidado integral.Este trabajo describe la experiencia de la construcción de un libro de historia con el objetivo de auxiliar a profesionales de salud y familiares a contar a los niños menores de 5 años sobre su diagnóstico de Fibrosis Cística. El libro muestra la historia de Lola, un niño que descubre que tiene Fibrosis Cística y crea un monstruo imaginario como representación de la enfermedad. La experiencia emergida de la práctica profesional en un consultorio externo multiprofesional de atención a esos pacientes, traduce la importancia de conciliar la teoría y la práctica, además de la interdisciplinaridad para la construcción de estrategias innovadoras y creativas en el desarrollo del cuidado integral.This work describes the experience of constructing a story book with the objective of helping health professionals and families to share with children less than 5 years about their diagnosis of cystic fibrosis. The book tells the story of Lola, a child who discovers she has cystic fibrosis and creates an imaginary monster as a representation of the disease. The experience emerged out of professional practice in an outpatient multidisciplinary service for these patients, translating the importance of reconciling theory and practice, and interdisciplinarity for the construction of

  20. 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

  1. 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

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    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

  2. 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

  3. 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

  4. Frequency of the deltaF508 mutation in 108 cystic fibrosis patients in São Paulo: comparison with reported Brazilian data Freqüência da mutação deltaF508 em 108 pacientes com fibrose cística de São Paulo: comparação com dados de estudos brasileiros

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    Thelma Suely Okay

    2005-04-01

    Full Text Available PURPOSE: To analyze the frequency of the delta F508 (deltaF508 deletion mutation in 108 unrelated cystic fibrosis patients and compare the results with the previously reported data for Brazilian patients. Cystic fibrosis is the leading cause of genetic disease in Caucasians, and the deltaF508 deletion is the most common mutation associated with the disease. METHOD: The frequency of the deltaF508 mutation was assessed by means of a polymerase chain reaction (PCR followed by detection in 8% silver-stained polyacrylamide gels. RESULTS: Twenty-three of 108 patients (21.3% were homozygous for the deltaF508 deletion, 50 were heterozygous (46.3%, and the remaining 35 (32.4% were non-carriers. In terms of alleles, there were 96 mutated (96/216 or 44.45% and 120 wild-type ones (120/216 or 55.5%. CONCLUSION: The 44.45% of affected alleles that were found is higher than the 33% first described in 1993, but slightly lower than the 48% recently reported. Moreover, our data corroborated the idea that the frequency of the deltaF508 mutation is lower in Brazil in comparison to that found in studies carried out in Europe and North American (circa 70.0%, probably due to increased racial miscegenation. These findings must be taken into account before any genetic screening of the population is proposed in Brazil.OBJETIVO: Analisar a freqüência da mutação delta F508 (deltaF508 em 108 pacientes não aparentados, com fibrose cística e comparou os resultados com os dados de outros estudos brasileiros. A fibrose cística (CF constitui a doença genética mais comum em populações caucasianas, sendo a deltaF508 a mais freqüente dentre as mutações relacionadas à doença. MÉTODO: A freqüência da deltaF508 foi analisada por meio da Reação em Cadeia da Polimerase (PCR seguida de detecção em géis de poliacrilamida a 8%. RESULTADOS: Vinte e três dos 108 pacientes foram homozigotos para a mutação (21,3%, 50 foram heterozigotos (46,3% e os 35 restantes n

  5. 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.

  6. 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.

  7. Abdominal ultrasound in the evaluation of fibrosis and portal hypertension in an area of schistosomiasis low endemicity Ultra-sonografia abdominal na avaliação de fibrose e hipertensão portal em área de baixa endemicidade de esquistossomose

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    Maria Cristina Carvalho do Espírito Santo

    2008-04-01

    Full Text Available This study was undertaken in the municipality of Bananal, São Paulo, an endemic area for schistosomiasis with a prevalence under 10% and low parasite load among infected individuals. Our objective was to identify the clinical forms of schistosomiasis among 109 patients in whom the disease had been diagnosed through direct fecal analysis and who had been medicated with oxamniquine at the time of the Plan for the Intensification of Schistosomiasis Control Actions (1998-2000. These patients were submitted to an abdominal ultrasonography and fecal analysis by Kato-Katz method, four years, on average, after the end of the Plan. Five patients, whose abdominal ultrasound images were compatible with either peripheral or central periportal fibrosis and portal hypertension, were identified. None of the 109 patients presented Schistosoma mansoni eggs at fecal analysis. Ultrasonography is a sensitive, noninvasive diagnostic method that allows a better identification of the extent of liver involvement in schistosomiasis cases.Este estudo desenvolveu-se no município de Bananal, São Paulo, uma área endêmica para esquistossomose com prevalência menor que 10% e baixa carga parasitária nos infectados. Teve como objetivo a identificação de formas clínicas da esquistossomose mansoni através do exame ultra-sonográfico, em 109 pacientes diagnosticados parasitologicamente e medicados com oxamniquine, durante a realização do Plano de Intensificação das Ações de Controle da Esquistossomose mansônica (1998-2000. Foram utilizadas a ultra-sonografia abdominal e exames de fezes (Kato-Katz realizados após o término do plano, quatro anos em média. Nesta casuística, foram identificados cinco pacientes com imagens ultra-sonográficas abdominais compatíveis com fibrose periportal periférica ou central e hipertensão portal, além da negatividade de todos os exames parasitológicos nos 109 pacientes. A ultra-sonografia, um método de diagnóstico sens

  8. Percepção de qualidade de vida de pessoas com fibrose cística: um estudo sobre a adequação dos instrumentos de medida Perception of quality of life of persons with cystic fibrosis: a study on the adequacy of rating scales

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    Juliana Bredemeier

    2007-04-01

    Full Text Available INTRODUÇÃO: Avaliações de qualidade de vida (QV na fibrose cística (FC são tão importantes quanto a avaliação da condição clínica do paciente. Porém, há divergências sobre conceitos e teorias de QV. METODOLOGIA: Onze pacientes brasileiros com FC maiores de 18 anos responderam a perguntas sugeridas pela OMS para a exploração conceitual da QV. A pesquisa foi orientada pela abordagem da grounded theory, e os dados sofreram análise qualitativa. RESULTADOS: Apesar da diversidade de domínios valorizados pelos entrevistados estar de acordo com o caráter multidimensional da QV, há domínios ainda não presentes nas escalas. CONCLUSÕES: Nenhuma escala atualmente disponível abrange todos os aspectos valorados pelos pacientes, o que aponta para a importância de questões idiossincráticas e culturais para a QV na FC. O esclarecimento da relação entre saúde e QV ainda depende de pesquisas futuras.INTRODUCTION: Quality of life (QOL assessment in cystic fibrosis is as important as the assessment of the patient's health status. However, there are controversies on QOL concepts and theories. METHOD: Eleven Brazilian patients with cystic fibrosis, 18 years or older, answered questions suggested by the World Health Organization to explore the concept of QOL. The grounded theory approach provided the basis for this study and the data were qualitatively analyzed. RESULTS: Although the diversity of domains valued by the participants is in agreement with the multidimensional nature of QOL, there are some domains missing in the scales. CONCLUSIONS: No currently available scale comprises all aspects ranked as important by the patients. This underscores the importance of idiosyncratic and cultural aspects on QOL in cystic fibrosis. Clarifying the relationship between health and QOL still relies on further research.

  9. Proteinuria in cystic fibrosis: a possible correlation between genotype and renal phenotype Proteinúria na fibrose cística: possível correlação entre genótipo e fenótipo renal

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    Jessica Cemlyn-Jones

    2009-07-01

    Full Text Available OBJECTIVE: To assess proteinuria in patients with cystic fibrosis (CF, and to correlate proteinuria with genotype, CF-related diabetes and disease severity. METHODS: A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion 150 mg/day (highproteinuria. Patient charts were reviewed to obtain data on genotype and CF-related diabetes. Disease severity was assessed based on acute exacerbations in the last six months and FEV1 measured during the study period. To assess the correlation between genotype and proteinuria, the two main mutations (ΔF508 and R334W were evaluated. Due to the existence of genotype ΔF508/R334W, two categories were created to enable statistical analysis, ΔF508 being evaluated in category 1 and R334W being evaluated in category 2. RESULTS: The ΔF508 mutation tended to be associated with normal protein excretion: 100% of the low-proteinuria subgroup patients were considered ΔF508 in category 1, compared with 86.7% in category 2. Protein excretion tended to be higher in patients with the R334W mutation: 60.0% of the high-proteinuria subgroup patients were considered R334W in category 1, compared with 80.0% in category 2 (p = 0.009 and p = 0.014, respectively. No significant association was found for any of the other variables. CONCLUSIONS: The results suggest that genotype is associated with renal phenotype, depending on the mechanism by which the genotype alters the function of the cystic fibrosis transmembrane conductance regulator gene.OBJETIVO: Avaliar a proteinúria em pacientes com fibrose cística (FC e correlacioná-la com o genótipo, com a diabetes relacionada à FC e com a gravidade da doença. MÉTODOS: Estudo prospectivo realizado num período de seis meses com 22 pacientes com FC. Efetuada proteinúria de 24 h com a divisão dos pacientes em dois subgrupos

  10. 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

  11. 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

    Directory of Open Access Journals (Sweden)

    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

  12. 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...... considered as surrogates to the liver biopsy. The noninvasive tests are considered equal in identifying significant fibrosis, but TE is superior in identifying cirrhosis....

  13. Farmacotherapie bij adolescente en volwassen patienten met cystische fibrose

    NARCIS (Netherlands)

    Touw, D.J.; Heijerman, H.G.M.; Bakker, Wim

    1996-01-01

    Cystic fibrosis (CF) is the most common potentially fatal inherited disease in the white population. In patients with CF, abnormal chloride transport across the apical membrane of epithelial cells has been identified, causing inspissated secretions in the airways, pancreas and other organs. Clinical

  14. 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....

  15. 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

    Directory of Open Access Journals (Sweden)

    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

  16. 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

    Directory of Open Access Journals (Sweden)

    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

  17. Crianças hospitalizadas com Fibrose Cística: percepções sobre as múltiplas hospitalizações Niños con Fribrosis Quistica: percepciones sobre las multiples hospitalizaciones Children with Cystic Fibrosis: perceptions about multiple hospital admissions

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    Ruth Irmgard Bärtschi Gabatz

    2007-02-01

    Full Text Available As crianças com fibrose cística (FC geralmente são hospitalizadas inúmeras vezes ao longo de suas vidas. Este estudo objetiva conhecer as percepções destas crianças em relação às múltiplas hospitalizações, bem como identificar o que percebem sobre o tratamento e os cuidados recebidos. Trata-se de um estudo descritivo com abordagem qualitativa. Os sujeitos são sete crianças portadoras de FC, entre 6 e 11 anos. Os dados são coletados em uma unidade pediátrica de um hospital geral, através de uma entrevista focalizada, pouco estruturada, e analisados pelo método da análise compreensiva. Os resultados deste estudo demonstram que as crianças prezam muito sua liberdade, que durante a hospitalização fica restringida, o que pode ser amenizado através da nossa escuta, compreensão e atenção.Los niños con fibrosis quística generalmente son hospitalizados innumerables veces a lo largo de sus vidas. Este estudio objetiva conocer las percepciones de estos niños con relación a las múltiplas hospitalizaciones, así como reconocer lo que se dan cuenta sobre el tratamiento y los cuidados recibidos. Se trata de un estudio descriptivo con abordaje cualitativa. Los sometidos son siete niños portadores de fibrosis quística, entre 6 y 11 anos. Los datos son colectados en una unidad pediátrica de un hospital general, por medio de una entrevista enfocada, poco estructurada y examinados por el método de la análisis comprensiva. Los resultados de este estudio enseñan que los niños estiman mucho su libertad, donde durante la internación se pone restriñida, lo que puede ser amenizado por medio de nuestra escucha, comprensión y atención.Children with cystic fibrosis are usually admitted to the hospital many times through their lives. This study aims to know the perceptions of these children towards the multiple hospital admissions, as well to identify what they realize about the treatment and the care they get. This is a descriptive

  18. 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

  19. Clinical manifestations of gadodiamide-related nephrogenic systemic fibrosis

    DEFF Research Database (Denmark)

    Marckmann, Peter; 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 â 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...

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    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...... gadodiamide; two received both gadodiamide and gadopentetate dimeglumine. In four cases, the amounts of contrast agent were registered: two received only a single dose (0.1 mmol kg(-1) body weight) whereas the other two received 7-15 ml (the body weight was not disclosed) for each MR examination. Five...... patients had multiple injections of GBCA before NSF developed. Except for one patient in whom renal assessment was not reported, none of the patients had an estimated glomerular filtration rate >30 ml min(-1) 1.73 m(-2) and all received dialysis. 5 of the 8 patients (63%) in whom GBCA exposure...

  1. 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...

  2. 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

  3. 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

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    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

  4. 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

  5. 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

  6. 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

  7. 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. 

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

    Science.gov (United States)

    ... the body, contains a functional region called a peptidase domain. Similar proteins containing such a domain are ... people with POIKTMP result in changes in the peptidase domain, researchers think that the mutations alter the ...

  9. 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.

  10. 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.

  11. Hemolytische anemie en een stollingsstoornis als eerste manifestatie van cystische fibrose bij twee zuigelingen

    NARCIS (Netherlands)

    ter Avest, P. C.; Tytgat, G. A. M.; Westra, M.; Peters, M.; van den Berg, M.

    2005-01-01

    2 infants, a boy aged 8 weeks and a girl aged 5 months, presented with symptoms of fat-soluble vitamin deficiencies. The first infant had frequently voluminous bowel movements, anaemia and was not thriving; he had anaemia due to vitamin-E deficiency. The second infant had multiple haematomas on the

  12. 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

    -11). RESULTS.: In 1994, the DMA approved a non-ionic linear GBCA, gadodiamide (0.1 mmol/kg), for magnetic resonance imagings (MRIs), with a renal insufficiency contraindication. In 1996, 0.3 mmol/kg dosing received DMA approval. In 1998, the DMA removed renal contraindications. In 1997 and 2002, radiologists....... This investigation, focusing on infectious agents, was inconclusive. In 2006, Herlev clinicians reported that of 108 CKD patients who had received gadodiamide-enhanced MRI, 20 had developed probable NSF. Herlev radiologists voluntarily discontinued administering gadodiamide to all patients and no new NSF cases...... at Herlev Hospital developed subsequently. After meeting with Herlev radiologists, Skejby radiologists also discontinued administering gadodiamide to all patients. In 2007, the European Medicines Agency and the DMA contraindicated gadodiamide administration to CKD patients. In 2008, in response...

  13. Intramembraneous Particle Cluster and Cytoplasmic Vesicles in Mice with Nephrogenic Defects of Urinary Concentration.

    Science.gov (United States)

    1987-01-01

    sphincter control released urine stored in the bladder. The animals were sacrificed by cervical dislocation. After a mid- abdominal incision was made, the... reabsorption of NaCl from those limbs. Therefore, at least part of the difficulty that these animals have in concentrating their urine might stem from an

  14. 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...

  15. 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)

  16. 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...

  17. Análise dos efeitos do método Pilates em pacientes com fibrose cística

    OpenAIRE

    Caroline Buarque Franco

    2011-01-01

    Resumo: Objetivo: A proposta de utilizar o método Pilates teve o objetivo de desenvolver um programa de exercícios, avaliando os efeitos no início e final do acompanhamento, coletando os seguintes dados: tolerância ao esforço físico pelo teste do degrau de 3 minutos (TD3); prova de função pulmonar (PFP); avaliação força muscular respiratória (FMR) pela pressão inspiratória máxima (PImáx) e pressão expiratória máxima (PEmáx) pela manovacuometria; qualidade de vida (QV) pelos questionários de q...

  18. 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.

  19. 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

  20. La fibrose rétropéritonéale: à propos de 12 cas | El Majdoub | Pan ...

    African Journals Online (AJOL)

    échographie qui a montré une obstruction de la voie excrétrice supérieure sans obstacle visible chez tous les malades, et confirmé par la TDM abdominale sans injection du produit de contraste qui objectivait une lésion tissulaire ...

  1. 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...

  2. 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...

  3. 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...

  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

    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...

  5. 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

  6. 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

  7. 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.

  8. 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.

  9. 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

    2016-01-01

    Purpose of review 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% two-year survival rate. Recent findings 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 co-evolution, 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. Summary 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. PMID:27548652

  10. O significado de uma organização de apoio aos portadores e familiares de fibrose cística na perspectiva das famílias

    Directory of Open Access Journals (Sweden)

    Geisa dos Santos Luz

    2011-01-01

    Full Text Available El presente estudio tiene como objetivo comprender el significado de una organización de apoyo a las familias de pacientes con fibrosis quística. Se utilizó como referencia el método cualitativo y fenomenológico. Se hicieron entrevistas a 14 familias que viven en las regiones Norte y Noroeste del Estado de Paraná, Brasil, registradas en la Associação Paranaense de Assistência a Mucoviscidose. Los resultados se agruparon en tres categorías: a Sentir apoyo en el ambiente de la fibrosis quística; b Compartir la vida: los cuidados esenciales a las familias que tienen pacientes con fibrosis quística; c Solidaridad, equidad y empowerment: un trípode de la organización social en la fibrosis quística. Se concluye que compartir la experiencia de las familias es crucial para el enfrentamiento de la enfermedad y que la asociación de pacientes es fundamental para que ellos acepten la enfermedad con tranquilidad teniendo una buena expectativa de calidad en sus vidas.

  11. Estado nutricional e ingestão alimentar de pessoas com fibrose cística Nutritional status and food intake of individuals with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Giovanna Medeiros Rataichesck FIATES

    2001-08-01

    Full Text Available A mucoviscidose é uma doença que afeta o estado nutricional por interferir na ingestão e absorção adequadas de nutrientes. Este estudo avaliou 22 pacientes mucoviscidóticos atendidos no Ambulatório de Nutrição do Hospital Infantil Joana de Gusmão em Florianópolis, SC, no período de agosto de 1998 a janeiro de 1999. O estado nutricional foi determinado através de medidas antropométricas e dados de consumo alimentar. Quanto ao estado nutricional, 42,9% dos menores de 2 anos e 28,6% dos maiores de 10 anos estavam desnutridos; na faixa etária de 2 a 10 anos não houve nenhuma criança desnutrida. Quanto ao consumo alimentar, 33,3% atingiram a recomendação de energia e 95,2% atingiram a recomendação de proteína. Podemos concluir que a mucoviscidose afeta o estado nutricional das crianças em períodos críticos de crescimento e desenvolvimento, e que a qualidade da dieta destes pacientes pode ser melhorada através de um cuidado nutricional adequado.Cystic fibrosis affects nutritional status because it interferes with adequate ingestion and absorption of nutrients. The present study evaluated 22 fibrocystic patients, who attended ambulatory visits at Hospital Infantil Joana de Gusmão, in the city of Florianópolis, Santa Catarina, Brazil, from August 1998 to January 1999. Nutritional status was determined by anthropometric measurements and food intake data. As to the nutritional status, 42.9% of the children under 2 years old and 28.6% over 10 years old were malnourished. Children between 2-10 years old did not present malnutrition. Evaluation of nutritional intake showed that 33.3% were eating adequate amounts of energy, and 95.2% of protein. It can be concluded that cystic fibrosis affects nutritional status of children in critical periods of growth and development, and that the quality of their diets can benefit from adequate nutritional care

  12. Metabolic profiling of kidney and urine in rats with lithium-induced nephrogenic diabetes insipidus by (1)H-NMR-based metabonomics.

    Science.gov (United States)

    Hwang, Geum-Sook; Yang, Ji-Young; Ryu, Do Hyun; Kwon, Tae-Hwan

    2010-02-01

    Lithium (Li) treatment for bipolar affective disorders is associated with a variety of renal side effects. The metabolic response of the kidney to chronic Li treatment has rarely been studied. We applied a novel method of (1)H-nuclear magnetic resonance (NMR)-based metabonomics to integrate metabolic profiling and to identify the changes in the levels of metabolites in the kidney and urine from rats with Li-induced NDI. Metabolic profiles of urine and kidney homogenate [3 different zones (cortex, outer medulla, and inner medulla) or whole kidney] were investigated using high-resolution NMR spectroscopy coupled with pattern recognition methods. The accurate concentrations of metabolites in kidney homogenates and urine were rapidly measured using the target-profiling procedure, and the difference in the levels of metabolites was compared using multivariate analysis, such as principal component analysis and orthogonal partial least squares-discriminant analysis. Major endogenous metabolites for kidney homogenates contained products of glycolysis (glucose, lactate) and amino acids, as well as organic osmolytes (e.g., betaine, myo-inositol, taurine, and glycerophosphocholine). Many metabolites revealed changes in their levels, including decreased levels of organic osmolytes and amino acids in the inner medulla. A number of urinary metabolites were changed in Li-induced NDI, and in particular, elevated urinary levels of acetate, lactate, allantoin, trimethylamine, and creatine could suggest Li-induced renal cell stress or injury. Taken together, metabonomics of kidney tissue and urine based on (1)H-NMR spectroscopy could provide insight into the effects of Li-induced renal effects and cell injury.

  13. "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

    of skin fibrosis and increase in joint mobility evaluated by the modified Rodnan skin score and a goniometer. Results In two patients, the imatinib mesylate dose was reduced to 200 mg⁄ day and in one patient to 100 mg⁄ day. Two patients were treated for 24 weeks, one patient for 16 weeks and one patient...

  14. 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...

  15. 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 nonspecific...

  16. 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...

  17. Morgellons disease: a filamentous borrelial dermatitis

    OpenAIRE

    Middelveen MJ; Stricker RB

    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...

  18. 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

  19. Proteinúria na fibrose cística: possível correlação entre genótipo e fenótipo renal

    OpenAIRE

    Cemlyn-Jones, Jessica; Gamboa, Fernanda

    2009-01-01

    OBJECTIVE: To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity. METHODS: A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion 150 mg/day (highproteinuria). Patient charts were reviewed to o...

  20. 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.)

  1. 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 ...

  2. 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)

  3. 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

  4. 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.)

  5. Clinico-epidemiological study of cutaneous manifestations of ...

    African Journals Online (AJOL)

    Fungal infections represent a higher prevalence (48.8 %), where Taenia pedis alone represents 17%, and Candidal vulvovaginitis was 12%. Taenia manus and Taenia corporis are least manifested (ca. 0.8 % for each). Bacterial infections represent 26.4% (furuncles alone 11.2%), and diabetic dermopathy 0.8%.

  6. 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.

  7. 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

  8. Magnetic Resonance Imaging (MRI) -- Head

    Medline Plus

    Full Text Available ... or cause problems during an MRI exam. Nephrogenic systemic fibrosis is currently a recognized, but rare, complication ... page Additional Information and Resources RTAnswers.org : Radiation Therapy for Brain Tumors Radiation Therapy for Head and ...

  9. MRI of the Chest

    Medline Plus

    Full Text Available ... magnetic field is not harmful, but it may cause some medical devices to malfunction. Most orthopedic implants ... medical devices that contain metal may malfunction or cause problems during an MRI exam. Nephrogenic systemic fibrosis ...

  10. Children's (Pediatric) Magnetic Resonance Imaging

    Medline Plus

    Full Text Available ... a variety of brain conditions and abnormalities like cysts, tumors, bleeding, swelling, or problems with the blood ... cause problems during an MRI exam. Nephrogenic systemic fibrosis is currently a recognized, but rare, complication of ...

  11. 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.

  12. DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome

    OpenAIRE

    Gonzalo, Susana; Kreienkamp, Ray

    2015-01-01

    The integrity of the nuclear lamina has emerged as an important factor in the maintenance of genome stability. In particular, mutations in the LMNA gene, encoding A-type lamins (lamin A/C), alter nuclear morphology and function, and cause genomic instability. LMNA gene mutations are associated with a variety of degenerative diseases and devastating premature aging syndromes such as Hutchinson-Gilford Progeria Syndrome (HGPS) and Restrictive Dermopathy (RD). HGPS is a severe laminopathy, with ...

  13. Recherche de nouvelles substances naturelles d'intérêt dans la prévention de la fibrose rénale d'origine médicamenteuse / Research of new natural substances of interest in the prevention of drug induced renal fibrosis

    OpenAIRE

    Bunel, Valérian

    2014-01-01

    Les reins sont les organes cibles de nombreuses molécules toxiques. Les cellules épithéliales du tubule proximal rénal sont particulièrement vulnérables vis-à-vis de xénobiotiques utilisés comme médicaments ou non. Ces agressions peuvent être corrélées à une augmentation du stress oxydatif et induire la mort cellulaire. Elles peuvent également mener à la perte des caractéristiques phénotypiques des cellules épithéliales, initiant leur dédifférenciation en cellules mésenchymateuses et éventuel...

  14. 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)

  15. O bloqueio da síntese do óxido nítrico promove aumento da hipertrofia e da fibrose cardíaca em ratos submetidos a treinamento aeróbio Nitric oxide synthesis blockade increases hypertrophy and cardiac fibrosis in rats submitted to aerobic training

    Directory of Open Access Journals (Sweden)

    Hugo Celso Dutra de Souza

    2007-08-01

    Full Text Available OBJETIVO: O presente estudo avaliou as adaptações teciduais cardíacas em ratos submetidos a treinamento aeróbio, após o bloqueio da síntese de óxido nítrico (NO. MÉTODOS: Os animais (n = 48 foram divididos em quatro grupos: sedentários (grupo CONTROLE, hipertensos após administração de Ng-nitro-L-arginina metil éster durante sete dias (grupo L-NAME, treinados por meio de natação durante oito semanas (grupo TREINADO e treinados e tratados com L-NAME na última semana (grupo TREINADO L-NAME. Em todos os animais foi registrada a pressão arterial (PA e realizada a avaliação morfométrica cardíaca. RESULTADOS: Os grupos L-NAME e TREINADO L-NAME apresentaram-se hipertensos em relação aos demais (p OBJECTIVE: The objective of the present study was to evaluate cardiac tissue adaptations in rats submitted to aerobic training after nitric oxide (NO synthesis blockade. METHODS: The animals (n=48 were divided into four groups: sedentary (CONTROL group; hypertensive after administration of NG-nitro-L-arginine methyl ester for 7 days (L-NAME Group; trained for 8 weeks through swimming exercises (TRAINED Group;trained and treated with L-NAME during the last week (L-NAME TRAINED Group. All the animals were submitted to the experiment procedures for blood pressure (BP readings and cardiac morphometric evaluation. RESULTS: In comparison to the other groups, the L-NAME and L-NAME TRAINED groups were hypertensive (p<0.05; however, BP elevation in the L-NAME TRAINED group was significantly lower than the L-NAME group (p<0.05. The heart weight indexes for the TRAINED and L-NAME TRAINED groups were higher than the CONTROL and L-NAME groups (p<0.05. Also they had presented higher rates of macroscopic cardiac area and cardiac fibrosis in relation to the rest (p<0.05; comparisons revealed that the values for the L-NAME TRAINED group were significantly higher (p<0.05 than the others. CONCLUSION: Short term NO synthesis blockade in sedentary animals induced hypertension but did not cause cardiac hypertrophy. In the trained animals, the inhibition of NO synthesis attenuated hypertension, induced cardiac hypertrophy and significantly increased myocardial fibrosis, indicating that NO plays an important role in cardiac tissue adaptations caused by aerobic exercise.

  16. 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.

  17. 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

  18. 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...

  19. A novel splicing mutation in the V2 vasopressin receptor

    DEFF Research Database (Denmark)

    Kamperis, Konstantinos; Siggaard, C; Herlin, Troels

    2000-01-01

    In order to elucidate the molecular basis and the clinical characteristics of X-linked recessive nephrogenic diabetes insipidus (CNDI) in a kindred of Danish descent, we performed direct sequencing of the arginine vasopressin receptor 2 (AVPR2) gene in five members of the family, as well as clini......In order to elucidate the molecular basis and the clinical characteristics of X-linked recessive nephrogenic diabetes insipidus (CNDI) in a kindred of Danish descent, we performed direct sequencing of the arginine vasopressin receptor 2 (AVPR2) gene in five members of the family, as well...

  20. Fibrose cística em um centro de referência no Brasil: características clínicas e laboratoriais de 104 pacientes e sua associação com o genótipo e a gravidade da doença Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity

    Directory of Open Access Journals (Sweden)

    Alfonso E. Alvarez

    2004-01-01

    Full Text Available OBJETIVO: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e verificar se existe associação com o genótipo e a gravidade da doença medida pelo escore de Shwachman. MÉTODOS: Estudo descritivo, retrospectivo e de corte transversal dos pacientes fibrocísticos acompanhados na UNICAMP, que tiveram atendimento entre julho de 1990 e julho de 2000. RESULTADOS: Foram estudados 104 pacientes: sexo masculino - 53,8%; raça caucasóide - 93,3%; comprometimento pulmonar - 89,4%, comprometimento digestivo - 59,6%; íleo meconial - 5,8%; diabetes melito - 4,8%; mediana da idade de início dos sintomas - 3 meses; mediana da idade no diagnóstico - 2 anos e 4 meses; 69,9 e 56,6% apresentavam peso e estatura abaixo do percentil 10, respectivamente, na época do diagnóstico; dosagem de cloro no suor OBJECTIVE: To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP in the last decade of the twentieth century, and to investigate the association of these characteristics with genotype and severity of the disease as measured by the Shwachman score. METHODS: Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospital's Cystic Fibrosis Clinic from July 1990 to July 2000. RESULTS: One hundred and four patients were studied; 53.8% male; 93.3% Caucasian; 89.4% presented with respiratory symptoms; 59.6% presented with digestive symptoms; 5.8% had meconium ileus ; 4.8% had diabetes. The mean age at onset of symptoms was 3 months, and the mean age at diagnosis was 2 years and 4 months. At diagnosis, 69.9 and 56.6% of the patients had weight and height below 10th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76.0%, and Burkholderia cepacia in 5.2%. deltaF508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were deltaF508 heterozygous. A moderate/severe Shwachman score was found in 15.7%. Eighteen patients died in that period (17.3%. The mean age at death was 7 years and 8 months; median survival after diagnosis was 18 years and 4 months. Patients who have at least one deltaF508 mutation have more frequent alterations in fecal fat levels when compared to patients who do not have this mutation (p < 0.05. There were no differences in any parameter between deltaF508 homozygous and heterozygous patients. CONCLUSIONS: The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients.

  1. 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.

  2. 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 ...

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

    Indian Academy of Sciences (India)

    causing nephrogenic diabetes insipidus. N. BOUGACHA-ELLEUCH1, M. BEN LASSOUED2, N. MILED3, S. ZOUARI1 and H. AYADI1∗. 1Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax route Sidi Mansour,. BP 1177, 3018 Sfax, Tunisia. 2Cabinet d'Endocrinologie, 3028 Sfax, Tunisia.

  4. Diabetes insipidus as a complication of cryptococcal meningitis in an HIV-infected patient

    NARCIS (Netherlands)

    Juffermans, Nicole P.; Verbon, Annelies; van der Poll, Tom

    2002-01-01

    We describe an HIV-infected patient with central diabetes insipidus as a complication of cryptococcal meningitis. Nephrogenic diabetes insipidus as a result of amphotericin B treatment is a rare but known complication. Central diabetes insipidus in cryptococcal meningitis has not been reported

  5. An Assessment of Twelve Cases of HELLP Syndrome Treated at the ...

    African Journals Online (AJOL)

    Important complications were disseminated intravascular coagulation, acute renal failure, transient cortical loss of vision, pulmonary oedema and transient nephrogenic diabetes insipidus. All patients required supportive care in the hospital's intensive care unit at the peak of their illnesses, and essential treatment consisted ...

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. ORIGINAL ARTICLES Percutaneous endoscopic gastrostomy in ...

    African Journals Online (AJOL)

    2003-07-14

    Jul 14, 2003 ... 44 (63%). Improve caloric intake/. Improve caloric intake medicines I feeds. Cystic fibrosis. 4. Chronic renal failure. 3. Congenital heart disease. 4. Fanconi syndrome/ cystinosis. Chronic lung disease. Nephrogenic diabetes insipidus. 1. HIV/AIPS. 1. Total. 5(7%). Total. To (14%). Continuous enteral feeding.

  10. Author Details

    African Journals Online (AJOL)

    Dimple, J. Vol 6, No 3 (2013) - Articles Nephrogenic Diabetes Insipidus with Intracranial Calcifications in a Child with Thalassemia Minor Abstract PDF. ISSN: 1858-554X. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and ...

  11. Role of hepatitis C virus genotype 3 in liver fibrosis progression : a systematic review and meta-analysis ; et, Impact of nurse vaccination program on hepatitis B immunity in a Swiss HIV clinic

    OpenAIRE

    Probst, A.

    2012-01-01

    Rôle du génotype 3 du virus de l'hépatite C dans la progression de la fibrose hépatique, une revue systématique avec méta-analyse. On estime à 170 millions le nombre de personnes atteintes d'hépatite C chronique dans le monde. La principale conséquence de cette maladie est la fibrose du foie, qui évolue plus ou moins rapidement, pour aboutir au développement d'une cirrhose et/ou d'un hépatocarcinome. Certains des facteurs accélérateurs de la fibrose, comme l'âge avancé au moment de l'infec...

  12. 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

  13. Fiabilidade do modelo Lok no diagnóstico da cirrose hepática

    OpenAIRE

    Costa, Jennifer Lima da

    2010-01-01

    Trabalho final de mestrado integrado em Medicina área cientifica de Gastroenterologia, apresentado à Faculdade de Medicina da Universidade de Coimbra Introdução: Marcadores serológicos que permitem avaliar a presença de cirrose hepática têm sido intensamente estudados. Contudo, a biópsia hepática continua a ser o Gold-standard para avaliar o grau de fibrose. O modelo de Lok é um teste indirecto que consiste numa fórmula que analisa marcadores indirectos de fibrose e foi formulado para perm...

  14. The lungs in rheumatoid arthritis - a clinical, radiographic and ...

    African Journals Online (AJOL)

    Five patients had digital clubbing, of whom 2 had fibrosing alveolitis and 1 bronchiectasis. No cause of the ..... Junk AG. Davidsen O. Graudal H. Prevalence of pulmonary involvement in rheumatoid arthrrtis and its relationship to some characterist,cs of the patients. Scand J RhelJmatol1982: 11: 217-224. 21. Hyland RH.

  15. CLINICAL EVALUATION OF THE MANIFESTATIONS OF INTERSTITIAL LUNG INJURYIN SYSTEMIC SCLERODERMA FROM HIGH-RESOLUTION COMPUTER T OMOGRAPHY DATA

    Directory of Open Access Journals (Sweden)

    L P Anan'eva

    2011-01-01

    Conclusion. Chest HRCT reveals the characteristic symptoms of ILI and reflects different phases of a fibrosing process in the lung. It is essential to make an in-depth examination using HRCT in all patients with SDD, irrespective of its clinical form in the earliest periods for the timely detection and treatment of ILI.

  16. ANÁLISE CELULAR E MOLECULAR DO PROCESSO APOPTÓTICO EM CÉLULAS ESTRELADAS HEPÁTICAS TRATADAS COM O PEPTÍDEO ANGIOTENSINA-(1-7.

    Directory of Open Access Journals (Sweden)

    Letícia Ferreira Ramos

    2017-03-01

    Full Text Available O fígado possui funções importantes e danos excessivos neste órgão acarretam em alterações metabólicas que podem induzir o aparecimento da fibrose do órgão. Dependendo da intensidade e persistência do estímulo indutor da fibrose, estes podem levar à cirrose e até mesmo ao hepatocarcinoma. Sabe-se que a necrose e a apoptose podem ocorrer em resposta a danos crônicos, mas também podem reverter o quadro fibrosante. Além disso, durante estímulos negativos, o estresse oxidativo também contribui para o estabelecimento da fibrose.  Uma das células relacionadas com a fibrogênese do órgão são as células estreladas hepáticas. Estas se apresentam quiescentes em fígados saudáveis e ativadas em fígados doentes. Atualmente terapias inovadoras são objetivadas e a Angiotensina-(1-7 [Ang-(1-7], desponta-se como um possível elemento modulador da fibrose. Neste estudo observou-se a atuação da Ang-(1-7 no controle de mecanismos negativos no equilíbrio dessas células.

  17. Conjugation Is Essential for the Anticholestatic Effect of NorUrsodeoxycholic Acid in Taurolithocholic Acid-Induced Cholestasis in Rat Liver

    NARCIS (Netherlands)

    Denk, Gerald U.; Maitz, Silvia; Wimmer, Ralf; Rust, Christian; Invernizzi, Pietro; Ferdinandusse, Sacha; Kulik, Wim; Fuchsbichler, Andrea; Fickert, Peter; Trauner, Michael; Hofmann, Alan F.; Beuers, Ulrich

    2010-01-01

    NorUDCA (24-norursodeoxycholic acid), the C-23-homolog of ursodeoxycholic acid (UDCA), showed remarkable therapeutic effects in cholestatic Mdr2 (Abcb4) (multidrug resistance protein 2/ATP-binding cassette b4) knockout mice with sclerosing/fibrosing cholangitis. In contrast to UDCA, norUDCA is

  18. Anaesthesia for tonsillectomy in HIV-infected children with ...

    African Journals Online (AJOL)

    lymphangioleiomyomatosis, neurofibromatosis, vasculitis. 5.3 Metabolic disorders: glycogen storage disease, Gaucher disease, thyroid disorders. 5.4 Others: tumoral obstruction, fibrosing mediastinitis, chronic renal failure on dialysis. PAH – pulmonary arterial hypertension; BMPR2 – bone morphogenetic protein receptor 2; ...

  19. Stem cell  mediated liver regeneration:

    DEFF Research Database (Denmark)

    Jelnes, Peter

    Leversygdomme er et udbredt sundhedsproblem verden over. Kroniske leversygdomme er karakteriseret ved en kontinuerlig ødelæggelse af leverparenkymet samt fibrose. Den nuværende og foretrukne behandling af terminale leversygdomme er levertransplantation med efterfølgende immunsuppressiv behandling...

  20. 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

  1. 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

  2. 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

  3. 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

  4. Trend Over Time for Cholecystectomy following the Introduction of ...

    African Journals Online (AJOL)

    2018-03-05

    Mar 5, 2018 ... and acalculous cholecystitis. Patients with preoperative diagnosis of common bile duct stones were excluded from this study. There were six conversion to OC due to uncertain anatomy, excessive bleeding and extensively fibrosed gallbladder in two cases each. No mortality was recorded in this series.

  5. Acute coronary syndrome: Role of the telomere dynamic

    African Journals Online (AJOL)

    USER

    2010-05-03

    May 3, 2010 ... SSDB, single-stranded DNA breaks; eNOS, endothelial nitric oxide synthase; RNP ... ignore telomere as a double stranded DNA break point ...... 62(1): 7-12. Bellini A, Mattoli S (2007). The role of the fibrocyte, a bone marrow- derived mesenchymal progenitor, in reactive and reparative fibroses. Lab. Invest.

  6. Hypertension artérielle pulmonaire au cours de la sclérodermie: à ...

    African Journals Online (AJOL)

    Le syndrome de Raynaud était observé chez 8 patients soit 66,67% de nos patients. L'électrocardiogramme montrait des signes de surcharge droite chez 4 malades (33,33%) et la radiographie thoracique en faveur d'une fibrose pulmonaire chez 4 patients. L'échocardiographie-Doppler notait une insuffisance tricuspide ...

  7. MRI in mucoviscidosis (cystic fibrosis); MRT bei Mukoviszidose

    Energy Technology Data Exchange (ETDEWEB)

    Eichinger, M.; Puderbach, M.; Kauczor, H.-U. [Deutsches Krebsforschungszentrum (DKFZ), Abteilung Radiologie, Heidelberg (Germany); Heussel, C.-P. [Universitaetsklinikum Mainz (Germany). Klinik und Poliklinik fuer Radiologie

    2006-04-15

    Cystic fibrosis (CF) is a multi-systemic disease with major impact on the lungs. Pulmonary manifestation is crucial for the prognosis and life expectancy of patients. Imaging modalities and lung function tests reflect the pulmonary status in these patients. The standard imaging modality for diagnosis and follow-up of pulmonary changes is chest x-ray. The gold standard for the detection of parenchymal lung changes remains high resolution computed tomography (HRCT), but this is not used routinely for CF-patients due to radiation exposure. Magnetic resonance imaging (MRI) used to be of no importance in monitoring cystic fibrosis lung disease, as shown in studies from the 1980s and early 1990s. The continuing improvement of MRI techniques, however, has allowed for an adequate application of this non-radiation method in diagnosing the major pulmonary findings in CF, in addition to the assessment of lung function. (orig.) [German] Die Lunge ist Hauptmanifestationsort der Mukoviszidose (zystischen Fibrose, CF) und entscheidend fuer Prognose und Lebenserwartung der Betroffenen. Bildgebende Verfahren spielen in der Diagnostik und Verlaufsbeurteilung der Lungenveraenderungen sowie dem Monitoring pulmonaler Komplikationen bei zystischer Fibrose eine wichtige Rolle. Obwohl die hochaufloesende Computertomographie (HRCT) als Goldstandard zur Beurteilung morphologischer Lungenveraenderungen bei zystischer Fibrose gilt, ist die Roentgenthoraxaufnahme aufgrund der geringeren Strahlenbelastung bei den meist jungen Patienten das derzeit eingesetzte Standardverfahren zur Diagnostik und Verlaufsbeurteilung. Die Magnetresonanztomographie (MRT) spielte bislang in der Diagnostik und Verlaufsbeobachtung der zystischen Fibrose keine Rolle, da Arbeiten aus den 80er und fruehen 90er Jahren keinen sinnvollen Beitrag der MRT zeigen konnten. Durch die kontinuierliche Verbesserung der Technik ist es seit neuestem erstmals moeglich, die MRT als Alternative fuer die Lungenbildgebung bei zystischer

  8. 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.

  9. 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.

  10. 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

  11. 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

  12. Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone

    Directory of Open Access Journals (Sweden)

    Sandeep Kharb

    2011-01-01

    Full Text Available Pseudohypoparathyroidism type-1b is a hereditary disorder of clinical hypoparathyroidism without AHO phenotype, characterized by blunted nephrogenous cyclic-AMP (cAMP response to exogenous parathyroid hormone (PTH. Here we report a young adult presenting with hypocalcemic tetany with raised PTH levels. His urinary cAMP response to exogenous PTH (recombinant 1-34 was blunted; however, phosphaturic response was normal.

  13. Value of quantitative magnetic resonance imaging T1-relaxometry in predicting contrast-enhancement in glioblastoma patients

    OpenAIRE

    Hattingen, Elke; M?ller, Andreas; Jurcoane, Alina; M?dler, Burkhard; Ditter, Philip; Schild, Hans; Herrlinger, Ulrich; Glas, Martin; Kebir, Sied

    2017-01-01

    SUMMARIZING THE IMPORTANCE OF THE STUDY The repetitive usage of gadolinium-based contrast agents (GBCA) is critical for magnetic resonance imaging (MRI) evaluation of tumor burden in glioblastoma patients. It is also a crucial tool for determination of radiographical response to treatment. GBCA injection, however, comes with a 2.4% rate of adverse events including life-threatening conditions such as nephrogenic systemic fibrosis (NSF). Moreover, GBCA have been shown to be deposited in brain t...

  14. Tacrolimus Aggravated Tube Feeding Syndrome with Acute Renal Failure in a Pediatric Liver Transplant Recipient

    OpenAIRE

    Kula, R.; Melter, M.; Kunkel, J.; D?rfler, C.; Alikadic, S.; Knoppke, B.; Zant, R.

    2017-01-01

    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...

  15. Itch Severity and Quality of Life in Patients with Pruritus: Preliminary Validity of a Danish Adaptation of the Itch Severity Scale

    DEFF Research Database (Denmark)

    Zachariae, Robert; Lei, Ulrikke; Hædersdal, Merete

    2012-01-01

    , 20 with urticaria, 12 with genital pruritus, 11 with nephrogenic pruritus, and 20 controls with vascular malformations. Convergent and discriminative validity was explored by analysing the associations of the ISS total score and the individual ISS component scores with age, sex, diagnosis, disease...... severity, sleep quality, depressive symptoms, anxiety, non-specific somatic symptoms, and pruritus-related quality of life impairment. Patients with urticaria reported significantly (p¿...

  16. Mycobacterium ulcerans infection in two alpacas.

    Science.gov (United States)

    O'Brien, C; Kuseff, G; McMillan, E; McCowan, C; Lavender, C; Globan, M; Jerrett, I; Oppedisano, F; Johnson, P; Fyfe, J

    2013-07-01

    An ulcerative dermopathy caused by Mycobacterium ulcerans is described in two alpacas (Vicugna pacos) domiciled in endemic areas of Victoria, Australia. The diagnosis was confirmed in both cases by PCR targeting the M. ulcerans-specific insertion sequence, IS2404. Extensive wound debridement and bandaging was effective in controlling local disease in one alpaca, although the animal was eventually euthanased because of suspected disease recurrence at other anatomical sites. Treatment was not undertaken in the second animal, but the results of a complete necropsy are described. Investigation of the environs of the second animal yielded low levels of M. ulcerans DNA associated with a variety of samples. The potential use of adjunctive antibiotic therapies directed against M. ulcerans infection in this species is discussed. Mycobacterium ulcerans infection should be suspected in alpacas domiciled in endemic areas and presented with ulcerative skin disease. © 2013 The Authors. Australian Veterinary Journal © 2013 Australian Veterinary Association.

  17. 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.

  18. 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

  19. QUANDO O DIAGNÓSTICO É TARDIO

    Directory of Open Access Journals (Sweden)

    Ana Lachado

    2016-07-01

    Conclusões/Comentários: A fibrose quística é a doença autossómica recessiva mais frequente na raça caucasiana, com incidência de 1:2000-3000 em determinados países e por vezes ainda subdiagnosticada. A apresentação clínica desta doença é variada. Com este caso clínico, os autores pretendem alertar para a necessidade de pensar em fibrose quística na presença de sintomas mais leves ou menos frequentes, uma vez que precocidade do diagnóstico é essencial para um melhor prognóstico. Realça-se a importância de um exame objetivo pormenorizado e adequada valorização das alterações identificadas.

  20. CT in the diagnosis of interstitial lung disease

    International Nuclear Information System (INIS)

    Bergin, C.J.; Mueller, N.L.

    1985-01-01

    The computed tomographic (CT) appearance of interstitial lung disease was assessed in 23 patients with known interstitial disease. These included seven patients with fibrosing alveolitis, six with silicosis, two with hypersensitivity pneumonitis, three with lymphangitic spread of tumor, two with sarcoidosis, one with rheumatoid lung disease, and two with neurofibromatosis. The CT appearance of the interstitial changes in the different disease entities was assessed. Nodules were a prominent CT feature in silicosis, sarcoidosis, and lymphangitic spread of malignancy. Distribution of nodules and associated interlobular septal thickening provided further distinguishing features in these diseases. Reticular densities were the predominant CT change in fibrosing alveolitis, rheumatoid lung disease, and extrinsic allergic alveolitis. CT can be useful in the investigation of selected instances of interstitial pulmonary disease

  1. Exercise testing, aerobic and strength training for adolescents with cystic fibrosis: a literature review

    OpenAIRE

    Chaves, Celia Regina Moutinho de Miranda; Oliveira, Cristiano Queiroz de; Britto, José Augusto Alves de; Elsas, Maria Ignez Capella Gaspar

    2007-01-01

    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 inform...

  2. Case report

    African Journals Online (AJOL)

    abp

    3 mai 2014 ... l'orientation thérapeutique des plexopathies brachiales chez les femmes présentant un cancer du sein. Pan African Medical Journal. ... Il s'agit d'une femme de 50 ans, suivie depuis quatre ans pour une tumeur du sein gauche pour ... Parfois la discrimination entre métastase et fibrose post-radique est ...

  3. 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)

  4. Author Details

    African Journals Online (AJOL)

    Dhifallah, Maher. Vol 21, No 1 (2015) - Articles La fibrose rétropéritonéale idiopathique: une cause rare de douleurs lombaires chez le sujet âgé. Abstract PDF · Vol 21, No 1 (2015) - Articles Dilatation de bronches séquellaire d'une tuberculose pulmonaire au cours d'un syndrome de Rhupus Abstract PDF. ISSN: 1937-8688.

  5. 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

  6. [Some parameters of bronchoalveolar lavages in alveolitis].

    Science.gov (United States)

    Makhmudova, S Iu

    2003-01-01

    Eighty nine patients with alveolitis [60 with extrinsic allergic alveolitis (EAA) and 29 with idiopathic fibrosing alveolitis (IFA)] were followed up. Cytological and immunological studies of bronchoalveolar lavage revealed that the patients with EAA had elevated counts of lymphocytes, moderately increased neutrophils and eosinophils, decreased alveolar macrophages, elevated SIgA and T lymphocytes. In the patients with IFA, only higher counts of neutrophils were significant.

  7. Charakterisierung inaktivierender posttranslationaler Modifikationen des GC-A-Rezeptors für das atriale natriuretische Peptid (ANP)

    OpenAIRE

    Hartmann, Michael

    2014-01-01

    Das atriale natriuretische Peptid (ANP) wird infolge einer Zunahme des atrialen Drucks aus den Myozyten des Atriums sezerniert. Es spielt lokal eine bedeutende, protektive Rolle und wirkt der Entstehung von Herzhypertrophie und Fibrose entgegen. Darüber hinaus kommt ANP vor allem eine wichtige Rolle als endokrines Hormon zu, das den arteriellen Blutdruck und das Blutvolumen regelt. Diese physiologischen Effekte vermittelt das Herzhormon durch seinen Rezeptor, das Transmembranprotein Guanylatz...

  8. [Ultrastructure of endometrium during low-dose gestagenic anticonception (author's transl)].

    Science.gov (United States)

    Houdek, J; Pelák, Z; Vacek, Z

    1977-02-01

    31 women (average age, 26 years) were administered a modified low dosage gestagen contraceptive, containing .3 of norethisterone for an average period of 10.6 months. Changes in the ultrastructure of the endometrium were studied throughout this period. Changes in both parts of the ultrastructure, the fibrose and epithelial parts, were revealed in comparison to material taken before use of the preparation. Changes in the stromata cells were particularly of a gestagenic character. Epithelial cells also demonstrated a particularly gestagenic stimulation.

  9. Case series

    African Journals Online (AJOL)

    abp

    1 nov. 2017 ... &Corresponding author: Aziz El Majdoub, Service d'Urologie, CHU Hassan II, Fès, Maroc. Mots clés: ... Il s'agissait de dix hommes et deux femmes. ..... deux uretères. -TDM : UHN avec atrophie rénale droite en amont d'une plaque de fibrose rétropéritonéale. - scintigraphie au DMSA/ rein muet droit.

  10. Proceedings of the Army Symposium on Solid Mechanics. Advances in Solid Mechanics for Design and Analysis Held at Newport, Rhode Island on 1-3 October 1984.

    Science.gov (United States)

    1984-10-01

    the differential equation * (16) This is the familiar equation for the nonlinear, simple pendulum . Before presenting the solution, we put the problem...consistent. Lonqitudinal and transverse V-notch charpy impact energy and fibrosty data for the GD material are shown in Table IV. Pased on a l0% fibrosity...specifications. However, it is highly recommended that a V-notch charpy energy requirement be idded to the specification. It is further felt that the

  11. Improved High Strength Armor Steel through Texturing

    Science.gov (United States)

    1979-09-01

    conditions. CHARPY IMPACT AND TRANSITION TEMPERATURE It has been established that cleavage is crystallographic in nature and in iron occurs on the (100...allel to the plate surface or face notched (L-S), (T-S), and (LT-S). Specimens were tested on a 217 ft-lb capacity pendulum -type machine with a striking...velocity of 17 ft/sec. The Charpy transition temperature, the lowest temperature at which 100 percent fibrosity still exists, was determined for each

  12. Primary Sclerosing Cholangitis

    OpenAIRE

    A Stiehl; C Benz; P Sauer

    2000-01-01

    Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease characterized by fibrosing inflammation and obliteration of intra- and/or extrahepatic bile ducts. The disease is one of the most common cholestatic diseases in adults and is diagnosed with increasing frequency. It is very often associated with ulcerative colitis. Patients with PSC have an increased incidence of bile duct carcinomas, and those with ulcerative colitis also have an increased incidence of colonic carcino...

  13. Futures Group Periodic Report 6

    Science.gov (United States)

    1981-06-01

    sclerosis, coeliac disease , or duodenal ulcers). Later-life disease susceptibility could be determined at an early age or at any time. "Knowing what...importantly, how such counseling will be related to identifying pre- disease susceptibility (such as fibrositis, skin and lung cancer, arthritis, multiple...immunologists with the telltale signs of the pre- disposition to different diseases . Parallel and related investigations are 7. Bernard Dixon, "Life

  14. 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).

  15. Pulmonary damage caused by cytostatics and paraquat

    International Nuclear Information System (INIS)

    Fischer, G.; Woeltjen, H.H.; Schauer, A.

    1981-01-01

    Substances which exercise a pulmonary toxic action will first of all produce alveolar and perivascular oedemas followed by fibrosis. Differential diagnosis is explained on the basis of two cases of a fatal mitomycin fibrosis of the lung, as well as the observation of fibrous changes following the administration of Bleomycin and Metothrexat. The course of pulmonary fibroses caused by paraquat is described for two cases of fatal paraquat intoxications. (orig.) [de

  16. 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

  17. 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...

  18. 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...

  19. Evaluation and management of alveolitis and interstitial lung disease in scleroderma.

    Science.gov (United States)

    Latsi, Panagiota I; Wells, Athol U

    2003-11-01

    In the fibrosing alveolitis of systemic sclerosis, treatment decisions depend on prognostic evaluation, which continues to excite considerable interest and debate. Advances in the staging of fibrosing alveolitis of systemic sclerosis and recent therapeutic studies are discussed in this review. The decision about whether to start treatment is often the most difficult clinical challenge, because many patients have limited pulmonary fibrosis that will not necessarily progress. The estimation of disease extent (using high-resolution CT) and disease severity (using pulmonary function tests) is pivotal. Factors reducing the threshold for treatment, in addition to severe disease, include evidence of recent deterioration, a short duration of systemic disease, antitopoisomerase antibody positivity, and, in some cases, bronchoalveolar lavage findings (although the role of bronchoalveolar lavage remains contentious). Histologic appearances at surgical biopsy have little prognostic value, with the great majority of patients having nonspecific interstitial pneumonia. Best current initial treatment consists of either oral or intravenous cyclophosphamide, usually administered with low-dose corticosteroid therapy, although the risk of scleroderma renal crisis with low-dose steroid therapy requires further evaluation. Careful prognostic evaluation, including the staging of disease severity and the definition of longitudinal disease behavior (by serial imaging and pulmonary function tests), is central to the formulation of a logical management plan in fibrosing alveolitis of systemic sclerosis. Cyclophosphamide, the best initial treatment currently, is associated with significant toxicity, justifying therapeutic studies of other immunosuppressive agents and a wide range of anticytokine and antifibrotic agents.

  20. 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

  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. 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

  3. Doença intersticial pulmonar em doentes com artrite reumatóide: comparação com a alveolite fibrosante criptogénica

    Directory of Open Access Journals (Sweden)

    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. Pharmacovigilance: What to do if you see an adverse reaction and the consequences

    Energy Technology Data Exchange (ETDEWEB)

    Stenver, Doris I. [Danish Medicines Agency, 1 Axel Heides Gade, DK-2300 Copenhagen S (Denmark)], E-mail: dis@dkma.dk

    2008-05-15

    With outset in a recently identified safety signal - the association between gadolinium and nephrogenic systemic fibrosis - the article highlights the aim of pharmacovigilance and provides an overview of the European regulatory drug safety network. The main objective of the article is to provide appropriate information concerning the regulatory environment to health care professionals working in a clinical setting. The important role played by health care professionals in drug safety surveillance, as well as examples of how the regulatory decision making is functioning in practice, are described and exemplified by means of the gadolinium case.

  5. Thalamic hemorrhage in a 4-year-old child induced by nephro-vascular hypertension

    International Nuclear Information System (INIS)

    Bianchi, E.; Savasta, S.; Torcetta, F.; Solmi, M.; Beluffi, G.; Gajno, T.M.

    1989-01-01

    A child affected by cardiomyopathy from the age of 12 months suddenly manifested right hemiparesis and dysarthria at the age of 48/12 years. Emergency brain CT showed a hemorrhage in progress in the left thalamic area. A serve from of hypertension was concomitant and resisted all pharmacological treatment. Retrograde transfemural aortography pointed out an atrophy of the right renal artery. This finding, together with the high renin and aldosterone values, indicated a nephrogenic hypertension causing both the cardiomyopathy found at 12 months of age and the endocranial hermorrhage. Right nephrectomy led to the normalization of blood pressure. (orig.)

  6. Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors | Office of Cancer Genomics

    Science.gov (United States)

    We report the most common single-nucleotide substitution/deletion mutations in favorable histology Wilms tumors (FHWTs) to occur within SIX1/2 (7% of 534 tumors) and microRNA processing genes (miRNAPGs) DGCR8 and DROSHA (15% of 534 tumors). Comprehensive analysis of 77 FHWTs indicates that tumors with SIX1/2 and/or miRNAPG mutations show a pre-induction metanephric mesenchyme gene expression pattern and are significantly associated with both perilobar nephrogenic rests and 11p15 imprinting aberrations.

  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...... fibrosis, a generalized fibrotic disorder, in renal failure patients. This sub-section of European Journal of Radiology covers the current knowledge about NSF from many aspects. The prevention of NSF must be given high priority, but it should not lead to a denial of a well-justified, enhanced MRI...

  8. Extracellular Gd-CA: Differences in prevalence of NSF

    DEFF Research Database (Denmark)

    Thomsen, H.S.; Marckmann, P.; Thomsen, Henrik S.

    2008-01-01

    of nephrogenic systemic fibrosis, a generalized fibrotic disorder, in renal failure patients. As no prospective studies can be performed we must rely on retrospective data. From those data it is obvious that the prevalence of NSF is significantly higher after the unstable agent gadodiamide than after any other...... gadolinium-based agent (3-7% versus 0-1% per injection) in patients with reduced renal function. Prevalence after exposure to two gadodiamide injections is as high as 36% in patients with chronic kidney disease (CKD) stage 5. No report of NSF after the most stable agents has been reported in the peer...

  9. Resolution of Diabetes Insipidus after Pyeloplasty: a Case Report and Review of the Literature.

    Science.gov (United States)

    Carpenter, Christina P; Rawson, Ashley; Hains, David S; Giel, Dana W

    2018-02-27

    Nephrogenic diabetes insipidus (NDI), a rare cause of polyuria and polydipsia in children, is usually managed with medications and careful monitoring of water intake. We present a child who was incidentally found to have right hydronephrosis secondary to ureteropelvic junction obstruction, and was subsequently also diagnosed with NDI. After being medically managed, he underwent open right pyeloplasty. His polydipsia abated within one month of surgery, and he has done well off of medications since that time. NDI resolution after correction of obstructive uropathy in adults has been reported, but this represents a novel case in pediatrics. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. 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.)

  11. Thalamic hemorrhage in a 4-year-old child induced by nephro-vascular hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Bianchi, E.; Savasta, S.; Torcetta, F.; Solmi, M.; Beluffi, G.; Gajno, T.M.

    1989-08-01

    A child affected by cardiomyopathy from the age of 12 months suddenly manifested right hemiparesis and dysarthria at the age of 48/12 years. Emergency brain CT showed a hemorrhage in progress in the left thalamic area. A serve from of hypertension was concomitant and resisted all pharmacological treatment. Retrograde transfemural aortography pointed out an atrophy of the right renal artery. This finding, together with the high renin and aldosterone values, indicated a nephrogenic hypertension causing both the cardiomyopathy found at 12 months of age and the endocranial hermorrhage. Right nephrectomy led to the normalization of blood pressure. (orig.).

  12. Mimics of scleroderma

    Directory of Open Access Journals (Sweden)

    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.

  13. 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

  14. 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.

  15. Bartter's Syndrome with Type 2 Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    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.

  16. 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.

  17. CITED1 Expression in Wilms' Tumor and Embryonic Kidney

    Directory of Open Access Journals (Sweden)

    Harold N. Lovvorn, III

    2007-07-01

    Full Text Available Wilms' tumors, or nephroblastomas, are thought to arise from abnormal postnatal retention and dysregulated differentiation of nephrogenic progenitor cells that originate as a condensed metanephric mesenchyme within embryonic kidneys. We have previously shown that the transcriptional regulator CITED1 (CBP/p300-interacting transactivators with glutamic acid [E]/aspartic acid [D]-rich C-terminal domain is expressed exclusively in these nephrogenic progenitor cells and is downregulated as they differentiate to form nephronic epithelia. In the current study, we show that CITED1 expression persists in blastemal cell populations of both experimental rat nephroblastomas and human Wilms' tumors, and that primary human Wilms' tumors presenting with disseminated disease show the highest level of CITED1 expression. Unlike the predominantly cytoplasmic subcellular localization of CITED1 in the normal developing kidney, CITED1 is clearly detectable in the nuclear compartment of Wilms' tumor blastema. These findings indicate that CITED1 is a marker of primitive blastema in Wilms' tumors and suggest that persistent expression and/or altered subcellular localization of CITED1 in the condensed metanephric mesenchyme could play a role in Wilms' tumor initiation and pathogenesis.

  18. 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.

  19. 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.

  20. 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.

  1. 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

  2. Capillaria hepatica-induced septal fibrosis in rats: a contribution to the study of liver fibrogenesis Contribuição para o estudo da fibrogenesis hepática em ratos infectados com Capillaria hepatica

    Directory of Open Access Journals (Sweden)

    Valter Lucas Chaves Barbosa

    2010-10-01

    Full Text Available INTRODUCTION: Septal fibrosis of the liver regularly develops in rats infected with the nematode Capillaria hepatica. Curative treatment of the infection prevents the development of septal fibrosis when intervention occurs up to postinfection day (PID 15, but not later. The present investigation aimed to demonstrate which parasitic factors are present when the process of septal fibrosis can no longer be prevented by curative treatment. METHODS: Wistar rats were infected with 600 embryonated eggs of C. hepatica administered by gavage and treated with ivermectin and mebendazole in separate groups at PIDs 10, 12, 15, 17 or 20. Rats from each group and their nontreated controls, were killed and examined 40 days after the end of treatment. RESULTS: Findings by PID 15 were compatible with the stage of complete maturation of infection, when worms and eggs were fully developed and a complex host-parasite multifocal necroinflammatory reaction showed greater intensity, but with no signs of septal fibrosis, which appeared from PID 17 onward. CONCLUSIONS: Since the worms spontaneously died by PID 15, not only septal fibrosis production, but also its maintenance and further development appeared dependent on the presence of eggs, which were the only parasitic factor remaining thereafter.INTRODUÇÃO: A fibrose septal do fígado se desenvolve regularmente em ratos infectados pelo nematódeo Capillaria hepatica. O tratamento curativo da infecção, feito antes do 15º dia da infecção, mas não mais tarde, impediu o aparecimento da fibrose septal. O presente trabalho procura verificar qual o estado do parasitismo aos 15 dias da infecção, crucial para patogenia da fibrose septal. MÉTODOS: Ratos foram infectados por via digestiva com 600 ovos embrionados de C. hepatica e tratados com Ivermectina e mebendazol, em grupos separados, aos 10, 12, 15, 17 ou 20 dias após a infecção. O animal de cada grupo e seus respectivos controles foram mortos e examinados aos

  3. 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.

  4. 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.

  5. 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)

  6. Differential expression of A-type and B-type lamins during hair cycling.

    Directory of Open Access Journals (Sweden)

    Mubashir Hanif

    Full Text Available Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as restrictive dermopathy. Prior studies have shown that the lamin A/C and B proteins are expressed in skin, but little is known about their normal expression in the different skin cell-types and during the hair cycle. Our immunohistochemical staining for lamins A/C and B in wild-type mice revealed strong expression in the basal cell layer of the epidermis, the outer root sheath, and the dermal papilla during all stages of the hair cycle. Lower expression of both lamins A/C and B was seen in suprabasal cells of the epidermis, in the hypodermis, and in the bulb of catagen follicles. In addition, we have utilized a previously described mouse model of Hutchinson-Gilford progeria syndrome and show here that the expression of progerin does not result in pronounced effects on hair cycling or the expression of lamin B.

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. Impaired glyoxalase activity is associated with reduced expression of neurotrophic factors and pro-inflammatory processes in diabetic skin cells.

    Science.gov (United States)

    Reichert, Olga; Fleming, Thomas; Neufang, Gitta; Schmelz, Martin; Genth, Harald; Kaever, Volkhard; Wenck, Horst; Stäb, Franz; Terstegen, Lara; Kolbe, Ludger; Roggenkamp, Dennis

    2017-01-01

    Patients suffering from type II diabetes develop several skin manifestations including cutaneous infections, diabetic dermopathy, diabetic bullae and acanthosis nigricans. Diabetic micro- and macroangiopathy as well as diabetic neuropathy are believed to play a crucial role in the development of diabetic skin disorders. A reduced cutaneous nerve fibre density was reported in diabetic subjects, which subsequently leads to impaired sensory nerve functions. Using an innervated skin model, we investigated the impact of human diabetic dermal fibroblasts and keratinocytes on porcine sensory neurons. Diabetic skin cells showed a reduced capacity to induce neurite outgrowth due to a decreased support with neurotrophic factors, such as NGF. Furthermore, diabetic keratinocytes displayed insulin resistance and increased expression of pro-inflammatory cytokines demonstrating the persistent effect of diabetes mellitus on human skin cells. Dysregulations were related to a significantly reduced glyoxalase enzyme activity in diabetic keratinocytes as experimentally reduced glyoxalase activity mimicked the increase in pro-inflammatory cytokine expression and reduction in NGF. Our results demonstrate an impaired crosstalk of diabetic skin cells and sensory neurons favouring hypo-innervation. We suggest that reduced methylglyoxal detoxification contributes to an impaired neurocutaneous interaction in diabetic skin. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

    Science.gov (United States)

    Staps, Pippa; Hogeveen, Marije; Fuijkschot, Joris; van Drongelen, Joris; Willemsen, Michèl A A P

    2017-09-15

    Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. A majority of patients with Sjögren-Larsson syndrome is born preterm. Data of all known Dutch patients with Sjögren-Larsson syndrome and all cases reported in literature were analyzed to learn from preterm birth in context of this rare disease. Exact gestational age was known in 33 Dutch patients; 24 (73%) of them were born preterm, with a median gestational age of 36 weeks. The literature search confirmed our findings: 13 (59%) of 22 cases was born preterm. Preterm birth is a hallmark of Sjögren-Larsson syndrome, presumably caused by the abnormal lipid metabolism of the fetus. At least five additional rare genetic disorders (namely Ehlers-Danlos syndrome, ichthyosis prematurity syndrome, congenital analbuminemia, osteogenesis imperfecta type II and restrictive dermopathy) were found in literature that lead to preterm birth of the affected fetus. These disorders are in fact "experiments of nature" and as such they shed new lights on the mechanisms causing preterm birth.

  13. 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.

  14. Intervenção fisioterapêutica na dor e na qualidade de vida em idosos com esclerose sistêmica. Relato de casos

    OpenAIRE

    Jorge, Matheus Santos Gomes; Wibelinger, Lia Mara; Knob, Bruna; Zanin, Caroline

    2016-01-01

    RESUMO JUSTIFICATIVA E OBJETIVOS: A esclerose sistêmica é uma doença crônica, multissistêmica e autoimune, caracterizada por angiopatia disseminada em pequena e microcirculação, fenômeno de Raynoud e fibrose cutânea e de órgãos internos. A fisioterapia tem se mostrado uma alternativa eficaz no combate aos agravos osteomioarticulares causados pela doença. O objetivo deste estudo foi verificar os efeitos de um programa de intervenção fisioterapêutica na dor e na qualidade de vida de dois idoso...

  15. A importância da integração de dados do diagnóstico das hemopatias

    OpenAIRE

    Lorand- Metze,Irene

    2009-01-01

    A análise diagnóstica da medula óssea compreende classicamente a citologia. Mais recentemente, tornou- se rotina o estudo histológico. Desde o início, tentou- se integrar estes dados, pois, enquanto a citologia fornece uma análise mais detalhada das características das células e permite quantificá- las, a biópsia, por analisar o tecido como um todo, permite o estudo da estrutura do tecido hemopoético, seu estroma e a ocorrência de estruturas estranhas à medula, como granulomas, fibrose e metá...

  16. Beyond fibromyalgia: ideas on etiology and treatment.

    Science.gov (United States)

    Bennett, R M

    1989-11-01

    A common syndrome of musculoskeletal pain, currently called fibrositis or fibromyalgia, accounts for 10-30% of all rheumatology consultations in North America. Lacking a distinctive pathophysiological basis the nature of the pain experienced by these patients remains elusive and treatment is not based on sound scientific principles. An hypothesis is advanced which suggests that skeletal muscle is the "end organ" responsible for the pain of fibromyalgia and that previous studies on muscle deconditioning and microtrauma may be relevant to the etiopathogenesis of fibromyalgia syndrome.

  17. Vascularização na cirrose hepática: estudo imunoistoquímico baseado em necropsias

    OpenAIRE

    Maeda,Mariane de Fátima Yukie; Silva,Camilla Duarte; Harima,Leila Suemi; Silva,Luiz Fernando Ferraz da; Ctenas,Bruno; Alves,Venâncio Avancini Ferreira

    2008-01-01

    RACIONAL: O processo patológico mais discutido na gênese da cirrose hepática é a fibrose progressiva, porém alterações na vasculatura do órgão têm sido apontadas como elementos fundamentais na fisiopatologia da doença e de suas complicações, como hipertensão portal, insuficiência hepática e carcinoma hepatocelular. OBJETIVO: Avaliar a densidade microvascular em 35 casos de necropsias de pacientes com cirrose hepática mediante pesquisa imunoistoquímica do marcador endotelial CD34 a fim de comp...

  18. Scleroderma and sarcoidosis

    OpenAIRE

    Guidolin, Fernanda; Esmanhotto, Letícia; Silva, Marilia B.; Mesquita, Lismari; Skare, Thelma L.

    2005-01-01

    Os autores descrevem o caso de uma paciente com esclerose sistêmica (ES) - forma limitada - com comprometimento pulmonar tipo fibrose intersticial. Após sete anos sem acompanhamento, foram identificados gânglios mediastinais e esplenomegalia. A biópsia de linfonodos mostrou granuloma não caseoso sugestivo de sarcoidose. Estamos mostrando, neste caso, a associação de ES e sarcoidose, para chamar a atenção para esse fato e enfatizar que a sarcoidose deve ser lembrada no diagnóstico diferencial ...

  19. Génotypes du virus de l'hépatite B et marqueurs évolutifs des ...

    African Journals Online (AJOL)

    Le génotypage, les dosages quantitatifs de l'AgHBe et de l'ADN virale B ont été réalisés au Laboratoire Cerba, Cergy Pontoise, France. L'évaluation de la fibrose était faite par le Fibrotest ou le FibroScan. Résultats: Au total, 143 patients, 52,4% de sexe masculin, âge moyen 38,1 ans ont été inclus. Selon les marqueurs ...

  20. Efeito da icterícia obstrutiva na morfologia e na funçao renal após nefrectomia em rato

    OpenAIRE

    Daniel Xavier Lima

    2007-01-01

    Introdução: O crescimento de um rim em resposta à perda do outro rim recebe o nome de hipertrofia renal compensatória. Durante esse processo, ocorrem alterações na morfologia e na função do rim remanescente, que aumenta sua massa tecidual e o ritmo de filtração glomerular. Tais modificações visam à restauração da função renal, embora, em alguns casos, possam ocorrer glomeruloesclerose, fibrose tubular e outras alterações que levam à disfunção renal. Existem muitos estudos a esse respeito, ...

  1. Influence de la fistule pancréatique et de l'hémorragie post ...

    African Journals Online (AJOL)

    En analyse multi variée, la fibrose était un facteur protecteur tandis qu'une durée opératoire supérieure à 310 minutes était un facteur de risque (p = 0,026). La fistule pancréatique, l'hémorragie post opératoire et la reintervention étaient des facteurs de risque de survenue de décès (p=0,019, p=0,002 et p<0,001).

  2. 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

  3. 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

  4. 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...

  5. Disfunções da coagulação e da fibrionólise em pacientes com esquistossomose mansônica na forma hepatoesplênica

    OpenAIRE

    Leite, Luiz Arthur Calheiros

    2014-01-01

    A esquistossomose hepatoesplênica (HE) é a forma mais grave desta doença, sendo caracterizada por fibrose periportal (FPP), hipertensão portal, esplenomegalia e citopenias. Pacientes com esquistossomose na forma HE podem apresentar disfunções hemostáticas que predispõem a tromboses e hemorragias. Este estudo teve como objetivo avaliar as alterações hepáticas e da coagulação em 55 pacientes com esquistossomose na forma HE, 45 esplenectomizados, 30 pacientes com DHCM, bem como em 30 indivíduos ...

  6. ANTISYNTHETASE SYNDROME IS THE MOST SEVERE SUBTYPE OF POLYMYOSITIS/DERMATOMYOSITIS:DESCRIPTION OF CASES

    Directory of Open Access Journals (Sweden)

    Olga Alekseyevna Antelava

    2009-01-01

    Full Text Available Polymyositis (PM and dermatomyositis (DM are autoimmune skeletal muscle diseases of unknown etiology, which are referred to as systemic connective tissue diseases and united under the common term Tidiopathic inflammatory myopathiesy. The most severe subtype of PM/DM is the antisynthetase syndrome that is characterized by a certain sympathocomplex, including interstitial lung lesion that is one of the most common visceral changes. Of interest are the specific features of the antisynthetase syndrome, its onset, the course and pulmonary manifestations of fibrosing alveolitis, unlike the classical course of PM/DM. Two clinical cases of the antisynthetase syndrome are given.

  7. 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.

  8. Esclerose sistémica juvenil: uma doença incomum na infância

    OpenAIRE

    da Silva, Manuela

    2013-01-01

    A esclerose sistêmica juvenil (ESJ) é uma doença rara, de etiologia autoimune, caracterizada por fibrose tecidual intensa, com acometimento da pele e órgãos internos. O diagnóstico é baseado em critérios clínicos e laboratoriais. A doença é progressiva e limitante e seu tratamento permanece ainda controverso. Neste estudo, relata-se um caso de uma paciente feminina de 14 anos com diagnóstico de ESJ que iniciou quadro com lesões discrômicas de pele, fenômeno de Raynaud, úlceras digitais, escle...

  9. 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...

  10. 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.

  11. 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.

  12. Estudo comparativo das reações teciduais à implantação de silicone e politetrafluoroetileno no dorso de ratos

    Directory of Open Access Journals (Sweden)

    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.

  13. 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

  14. Mediastinal tumors

    International Nuclear Information System (INIS)

    Canizares, Claudio; Araujo, Ivan; Rodriguez, Amparo; Robles, Wilson; Simba, Catalina

    2005-01-01

    In our practice the mediastinal tumors are infrequent. The mediastinum is the portion of the thoracic cavity that contains numerous organs and structures which makes a crossroad for the diagnostic process. Within which congenital cysts, inflammatory and benign tumors, malignant neoplasms may develop. In the superior compartment are found: thymoma and thymic cysts, germ cell tumors, thyroid lesions, parathyroid adenomas, malignant lymphomas, paragangliomas, hemangiomas, lipomas, and inflammatory lesions such as fibrosing mediastinitis. In the middle portion: pericardial cysts, bronchial cysts, malignant lymphomas. In the posterior region: neurogenic tumors such as Shawnomas, neurofibromas, ganglioneuroblastomas, neuroblastomas, paragangliomas, and gastro enteric cysts. We describe two cases. One of a female patient with a prominent tumor in the anterior compartment of the mediastinum, detected by the x-ray films. Initially a cardiac lesion was excluded by echographic, angiographic studies. The biopsy exhibited a prominent fibrosis that suggested fibrosing mediastinitis (sclerosing). Whoever the immunohistochemical phenotype was positive for lambda chains, determining the diagnosis of lymphoma. The other case is of a young male with a thymoma associated to a pure red cell aplasia, which was the initial clinical symptom. Computerized tomography and thyroid scintigraphy was used. (The author)

  15. Mast cell and histamine content of human bronchoalveolar lavage fluid.

    Science.gov (United States)

    Agius, R M; Godfrey, R C; Holgate, S T

    1985-01-01

    Bronchoalveolar lavage was performed in 97 patients including control patients with bronchial carcinoma (24) and patients with sarcoidosis (20), cryptogenic fibrosing alveolitis (9), and asthma (4), and others. Cytocentrifuged slides were stained by two methods: May-Grünwald Giemsa and toluidine blue. In the last 32 subjects the bronchoalveolar lavage fluid was separated into supernatant and cell pellet for the subsequent assay of the performed mast cell mediator, histamine. Comparison of the two methods of staining showed a bias towards toluidine blue. Controls had a differential mean (SE) mast cell count of 0.07% (0.01%). Higher counts were noted in cryptogenic fibrosing alveolitis--0.61% (0.15%) (p less than 0.001)--and in sarcoidosis--0.14% (0.02%) (p less than 0.05). There was a strong correlation between absolute mast cell counts and cell lysate histamine concentration (r = 0.78, p less than 0.001). Less strong, significant, correlations between supernatant histamine concentration and absolute mast cell counts (r = 0.48, p less than 0.01) or cell lysate histamine concentration (r = 0.72, p less than 0.01) were also found. Derived mean values of histamine per mast cell ranged from 3.7 to 10.9 picograms. The mean histamine content of lavage fluid supernatant as a percentage of the total lavage fluid histamine was 24.9% (3.3%). The possible clinical significance of these findings is discussed. Images PMID:4060097

  16. Chronic interstitial pancreatitis and chronic wasting disease caused by Eurytrema coelomaticum in Nelore cow

    Directory of Open Access Journals (Sweden)

    M.A. Rachid

    2011-06-01

    Full Text Available A euritrematose bovina, causada por Eurytrema coelomaticum, tem sido relatada no Brasil. A doença pode afetar animais domésticos, incluindo ruminantes. Estes parasitos geralmente vivem nos ductos pancreáticos e ocasionalmente nos ductos biliares. Este estudo relata um quadro de caquexia em um bovino parasitado por E. coelomaticum proveniente de um rebanho de gado de corte localizado no Estado de Minas Gerais. O animal acometido apresentou perda progressiva de peso, glicosúria e cetonúria. Na necropsia o pâncreas apresentava-se diminuído de tamanho, brancacento, intensa e difusamente firme (fibrose. Vários ductos apresentavam-se dilatados e repletos de Eurytrema. Microscopicamente foi observada destruição extensa do parênquima pancreático e fibrose, ovos e parasitas intralesionais, hiperplasia ductal e inflamação multifocal crônica. Este relato descreve a perda progressiva de peso e pancreatite crônica associada a E. coelomaticum em bovino de corte no Estado de Minas Gerais.

  17. Simultaneous chronic seneciosis and eurytrematosis in a cow/ Simultânea seneciose crônica e euritrematose em uma vaca

    Directory of Open Access Journals (Sweden)

    Ighor Augusto de Almeida

    2004-05-01

    Full Text Available Chronic intoxication associated with the ingestion of Senecio brasiliensis with concomitant interstitial and periductal pancreatitis induced by Eurytrema spp are described in a cow that demonstrated severe progressive emaciation as its principal clinical manifestation. In chronic seneciosis there was severe toxic hepatitis characterized by periportal and bridging fibrosis, megalocytosis, and proliferation of epithelial bile duct cells. Infestation by Eurytrema spp produced marked periductal and interstitial fibrosis associated with parasitic forms within interlobular pancreatic ducts.Descreve-se a intoxicação crônica por Senecio brasiliensis com concomitante pancreatite intersticial e periductal por Eurytrema spp em uma vaca que demonstrou emagrecimento progressivo como sua principal manifestação clínica. Na intoxicação crônica por Senecio spp observou-se hepatite tóxica caracterizada por fibrose periportal e em ponte, megalocitose e proliferação das células epiteliais dos ductos biliares. A infestação por Eurytrema spp induziu fibrose periductal e intersticial acentuada associada a formas interductais do trematódeo.

  18. Dorsal prevertebral lesions in Wegener granulomatosis: report on four cases.

    Science.gov (United States)

    Barreto, Paulo; Pagnoux, Christian; Luca, Luminata; Aouizerate, Jessie; Ortigueira, Isabel; Cohen, Pascal; Muller, Géraldine; Guillevin, Loïc

    2011-01-01

    Retroperitoneal fibrosis has been reported in several patients with Wegener granulomatosis (WG), but only three isolated cases of dorsal prevertebral lesions, closely resembling fibrosing mediastinitis, have been published so far. We describe four new WG patients (two men, two women), 49-59 years old at diagnosis, with dorsal prevertebral lesions, mainly right-sided, and with adjacent pleural thickening in two. These lesions were detected on computed-tomography scans at diagnosis in two patients, and occurred later in the two others. Only one of them had mild back pain. Two patients' lesions were biopsied, revealing granulomatous inflammation. In one patient, the lesion regressed under WG treatment. Lesion size did not change in the remainings. Intralesional calcifications appeared in two. None of the patients had local bone erosion, vascular or neurological complications. These prevertebral lesions might represent a dorsal form of retroperitoneal fibrosis in WG, but usually with a more benign presentation and course. WG should be included in the differential diagnosis of fibrosing mediastinitis (with tuberculosis, neoplastic diseases, sarcoidosis, histiocytosis and inflammatory pseudotumor), which may have a similar radiological appearance. Copyright © 2010 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  19. Aspergilose broncopulmonar alérgica com imagem radiológica em "dedo de luva" Allergic bronchopulmonary aspergillosis presenting a glove-finger shadow in radiographic images

    Directory of Open Access Journals (Sweden)

    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.

  20. Renal dysplasia in a Limousin calf Displasia renal em um bezerro Limousin

    Directory of Open Access Journals (Sweden)

    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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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...

  6. 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...... transiently after a 1-desamino-8-D-arginine vasopressin challenge. COX-2 inhibition did not reduce cortical lithium-induced cell proliferation and phosphorylation of glycogen synthase kinase-3β (GSK-3β). COX-1 protein abundance increased in rat kidney cortex in response to lithium. COX-1 immunoreactivity...... was found in microcyst epithelium in rat kidney. A human nephrectomy specimen from a patient treated for 28 years with lithium displayed multiple, COX-1-immunopositive, microcysts. In chronic lithium-treated adolescent rats, COX-2 is not colocalized with microcystic epithelium, mitotic activity...

  7. Transient Diabetes Insipidus Following Cardiopulmonary Bypass.

    Science.gov (United States)

    Ekim, Meral; Ekim, Hasan; Yilmaz, Yunus Keser; Bolat, Ali

    2015-04-01

    Diabetes insipidus (DI) results from inadequate output of Antidiuretic Hormone (ADH) from the pituitary gland (central DI) or the inability of the kidney tubules to respond to ADH (nephrogenic DI). ADH is an octapeptide produced in the supraoptic and paraventricular nuclei of the hypothalamus and stored in the posterior lobe of the pituitary gland. Cardiopulmonary Bypass (CPB) has been shown to cause a six-fold increased circulating ADH levels 12 hours after surgery. However, in some cases, ADH release may be transiently suppressed due to cardioplegia (cardiac standstill) or CPB leading to DI. We present the postoperative course of a 60-year-old man who developed transient DI after CPB. He was successfully treated by applying nasal desmopressin therapy. Relevant biochemical parameters should be monitored closely in patients who produce excessive urine after open heart surgery.

  8. 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.

  9. Current Bioengineering Methods for Whole Kidney Regeneration

    Directory of Open Access Journals (Sweden)

    Shuichiro Yamanaka

    2015-01-01

    Full Text Available Kidney regeneration is likely to provide an inexhaustible source of tissues and organs for immunosuppression-free transplantation. It is currently garnering considerable attention and might replace kidney dialysis as the ultimate therapeutic strategy for renal failure. However, anatomical complications make kidney regeneration difficult. Here, we review recent advances in the field of kidney regeneration, including (i the directed differentiation of induced pluripotent stem cells/embryonic stem cells into kidney cells; (ii blastocyst decomplementation; (iii use of a decellularized cadaveric scaffold; (iv embryonic organ transplantation; and (v use of a nephrogenic niche for growing xenoembryos for de novo kidney regeneration from stem cells. All these approaches represent potentially promising therapeutic strategies for the treatment of patients with chronic kidney disease. Although many obstacles to kidney regeneration remain, we hope that innovative strategies and reliable research will ultimately allow the restoration of renal function in patients with end-stage kidney disease.

  10. 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.

  11. 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.

  12. Severe thrombocytopenia induced by iodinated contrast after coronary angiography: The use of gadolinium contrast and intravascular ultrasound as an alternative to guide percutaneous coronary intervention.

    Science.gov (United States)

    Cubero-Gómez, José María; Guerrero Márquez, Francisco J; Diaz-de la-Llera, Luis; Fernández-Quero, Mónica; Guisado-Rasco, Agustín; Villa-Gil-Ortega, Manuel

    2017-01-01

    Acute contrast-induced thrombocytopenia is a rare event with the use of modern low osmolarity iodinated contrast media. The pathophysiological mechanism that causes platelet counts to drop has not been identified, but an immunological mechanism is suspected due to cytotoxicity after previous exposure to contrast. We report the case of a 47-year-old male patient with acute severe thrombocytopenia due to iodinated contrast media exposure. His platelet count after the procedure with the highest amount of contrast was zero, which is the lowest reported platelet count to date. Percutaneous coronary revascularization under both intravascular ultrasound and gadolinium contrast guidance was performed without complications. The most feared complication after the use of gadolinium is nephrogenic systemic fibrosis, especially in patients on hemodialysis. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. [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.

  18. Genetic analysis reveals an unexpected role of BMP7 in initiation of ureteric bud outgrowth in mouse embryos.

    Directory of Open Access Journals (Sweden)

    Alexandre Gonçalves

    Full Text Available BACKGROUND: Genetic analysis in the mouse revealed that GREMLIN1 (GREM1-mediated antagonism of BMP4 is essential for ureteric epithelial branching as the disruption of ureteric bud outgrowth and renal agenesis in Grem1-deficient embryos is restored by additional inactivation of one Bmp4 allele. Another BMP ligand, BMP7, was shown to control the proliferative expansion of nephrogenic progenitors and its requirement for nephrogenesis can be genetically substituted by Bmp4. Therefore, we investigated whether BMP7 in turn also participates in inhibiting ureteric bud outgrowth during the initiation of metanephric kidney development. METHODOLOGY/PRINCIPAL FINDINGS: Genetic inactivation of one Bmp7 allele in Grem1-deficient mouse embryos does not alleviate the bilateral renal agenesis, while complete inactivation of Bmp7 restores ureteric bud outgrowth and branching. In mouse embryos lacking both Grem1 and Bmp7, GDNF/WNT11 feedback signaling and the expression of the Etv4 target gene, which regulates formation of the invading ureteric bud tip, are restored. In contrast to the restoration of ureteric bud outgrowth and branching, nephrogenesis remains aberrant as revealed by the premature loss of Six2 expressing nephrogenic progenitor cells. Therefore, very few nephrons develop in kidneys lacking both Grem1 and Bmp7 and the resulting dysplastic phenotype is indistinguishable from the one of Bmp7-deficient mouse embryos. CONCLUSIONS/SIGNIFICANCE: Our study reveals an unexpected inhibitory role of BMP7 during the onset of ureteric bud outgrowth. As BMP4, BMP7 and GREM1 are expressed in distinct mesenchymal and epithelial domains, the localized antagonistic interactions of GREM1 with BMPs could restrict and guide ureteric bud outgrowth and branching. The robustness and likely significant redundancy of the underlying signaling system is evidenced by the fact that global reduction of Bmp4 or inactivation of Bmp7 are both able to restore ureteric bud outgrowth

  19. 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

  20. 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.

  1. 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.

  2. 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

  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. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

    Science.gov (United States)

    Ben Yaou, Rabah; Navarro, Claire; Quijano-Roy, Susana; Bertrand, Anne T; Massart, Catherine; De Sandre-Giovannoli, Annachiara; Cadiñanos, Juan; Mamchaoui, Kamel; Butler-Browne, Gillian; Estournet, Brigitte; Richard, Pascale; Barois, Annie; Lévy, Nicolas; Bonne, Gisèle

    2011-06-01

    Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype severity is correlated with the residual enzyme activity of ZMPSTE24 and accumulation of prelamin A. We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia. In this study, we report a 30-year longitudinal clinical survey of a patient harboring a novel severe and complex phenotype, combining an early-onset progeroid syndrome and a congenital myopathy with fiber-type disproportion. A unique homozygous missense ZMPSTE24 mutation (c.281T>C, p.Leu94Pro) was identified and predicted to produce two possible ZMPSTE24 conformations, leading to a partial loss of function. Western blot analysis revealed a major reduction of ZMPSTE24, together with the presence of unprocessed prelamin A and decreased levels of lamin A, in the patient's primary skin fibroblasts. These cells exhibited significant reductions in lifespan associated with major abnormalities of the nuclear shape and structure. This is the first report of MAD presenting with confirmed myopathic abnormalities associated with ZMPSTE24 defects, extending the clinical spectrum of ZMPSTE24 gene mutations. Moreover, our results suggest that defective prelamin A processing affects muscle regeneration and development, thus providing new insights into the disease mechanism of prelamin A-defective associated syndromes in general.

  5. 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

  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.

    Directory of Open Access Journals (Sweden)

    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. A clinical study of dermatoses in diabetes to establish its markers

    Directory of Open Access Journals (Sweden)

    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.

  8. 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.

  9. Graves' orbitopathy as a rare disease in Europe: a European Group on Graves' Orbitopathy (EUGOGO) position statement.

    Science.gov (United States)

    Perros, P; Hegedüs, L; Bartalena, L; Marcocci, C; Kahaly, G J; Baldeschi, L; Salvi, M; Lazarus, J H; Eckstein, A; Pitz, S; Boboridis, K; Anagnostis, P; Ayvaz, G; Boschi, A; Brix, T H; Currò, N; Konuk, O; Marinò, M; Mitchell, A L; Stankovic, B; Törüner, F B; von Arx, G; Zarković, M; Wiersinga, W M

    2017-04-20

    Graves' orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence of GO in Europe may be declining, however data on the prevalence of this disease are sparse. Several clinical variants of GO exist, including euthyroid GO, recently listed as a rare disease in Europe (ORPHA466682). The objective was to estimate the prevalence of GO and its clinical variants in Europe, based on available literature, and to consider whether they may potentially qualify as rare. Recent published data on the incidence of GO and Graves' hyperthyroidism in Europe were used to estimate the prevalence of GO. The position statement was developed by a series of reviews of drafts and electronic discussions by members of the European Group on Graves' Orbitopathy. The prevalence of GO in Europe is about 10/10,000 persons. The prevalence of other clinical variants is also low: hypothyroid GO 0.02-1.10/10,000; GO associated with dermopathy 0.15/10,000; GO associated with acropachy 0.03/10,000; asymmetrical GO 1.00-5.00/10,000; unilateral GO 0.50-1.50/10,000. GO has a prevalence that is clearly above the threshold for rarity in Europe. However, each of its clinical variants have a low prevalence and could potentially qualify for being considered as a rare condition, providing that future research establishes that they have a distinct pathophysiology. EUGOGO considers this area of academic activity a priority.

  10. 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

  11. Quality characterization of celery (Apium graveolens L.) by plant zones and two harvest dates.

    Science.gov (United States)

    Guerra, Natalia; Carrozzi, Liliana; Goñi, María Gabriela; Roura, Sara; Yommi, Alejandra

    2010-08-01

    The aim of this study was to characterize the quality of celery petioles (Apium graveolens L. cv Golden Clause) from the external, middle, and internal zones of each plant. Harvest dates were 93 (HD1) and 124 (HD2) days after transplantation. Total weight (TW), total length (TL), total leaves number (LN), and petiole length of leaves (PL) for the 3 zones were measured. Physicochemical (color, b* and h; texture; total soluble solids, TSS; titratable acidity, TA; water content, WC), nutraceutical (ascorbic acid, AA; total quinones, TQ; browning potential, BP), and sensorial analysis (flavor, fibrosity, crunchiness) were done at harvest on petioles of each zone. No differences between harvesting dates were found in TW, TL, LN, and PL. Middle leaves had the highest PL. Harvest dates were not different in b*, h, TA, AA, and WC. Texture, TSS, BP, and TQ resulted higher in petioles of HD2 than in HD1. Similar TSS and TA were found in leaves of different plant zones. The yellow color of both external and internal zones was significantly higher than in the middle zone. The texture and BP was similar between the external and middle zones but the WC was lower in the external zone. Similarly, the AA content as well as the TQ was also lower than in the middle zone. Harvest delay improved the nutraceutical value in terms of BP and TQ, even though it also resulted in pithiness and fibrosity of the leaves. This study therefore suggests that the petioles of the middle zone when harvested at HD1 are the most suitable for consumption. Practical Application: Celery is a vegetable reduced in calories, has a high nutritional value and its fresh petioles are mainly consumed in salads. The texture and flavor are the most important attributes that define consumers' acceptability. As nutritional value, texture, and flavor may change with plant age and different zones of the plant, harvest date plays an important role on quality. Results indicate that harvest delay improved the nutraceutical

  12. Musculoskeletal manifestations of diabetes mellitus.

    Science.gov (United States)

    Merashli, M; Chowdhury, T A; Jawad, A S M

    2015-11-01

    The prevalence of Type 1 and Type 2 diabetes are increasing significantly worldwide. Whilst vascular complications of diabetes are well recognized, and account for principle mortality and morbidity from the condition, musculoskeletal manifestations of diabetes are common and whilst not life threatening, are an important cause of morbidity, pain and disability. Joints affected by diabetes include peripheral joints and the axial skeleton. Charcot neuroarthropathy is an important cause of deformity and amputation associated with peripheral neuropathy. A number of fibrosing conditions of the hands and shoulder are recognized, including carpal tunnel syndrome, adhesive capsulitis, tenosynovitis and limited joint mobility. People with diabetes are more prone to gout and osteoporosis. Management of these conditions requires early recognition and close liaison between diabetes and rheumatology specialists. © The Author 2015. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Guidelines for the diagnosis and treatment of idiopathic pulmonary fibrosis. Sociedad Española de Neumología y Cirugía Torácica (SEPAR) Research Group on Diffuse Pulmonary Diseases.

    Science.gov (United States)

    Xaubet, Antoni; Ancochea, Julio; Bollo, Elena; Fernández-Fabrellas, Estrella; Franquet, Tomás; Molina-Molina, Maria; Montero, Maria Angeles; Serrano-Mollar, Anna

    2013-08-01

    Idiopathic pulmonary fibrosis is defined as a chronic fibrosing interstitial pneumonia limited to the lung, of unknown cause, with poor prognosis and few treatment options. In recent years there has been an increase in their prevalence, probably due to the optimization of diagnostic methods and increased life expectancy. The ATS/ERS Consensus (2000) established the diagnostic criteria and recommendations for the assessment of the disease course and treatment. Later studies have helped to redefine diagnostic criteria and treatment options. In 2011, an international consensus was published, establishing diagnostic criteria and new treatment strategies. These guidelines have been updated with the newest aspects of diagnosis and treatment of idiopathic pulmonary fibrosis. A level of evidence has been identified for the most relevant questions, particularly with regard to treatment options. Copyright © 2012 SEPAR. Published by Elsevier Espana. All rights reserved.

  14. Inflammation-adapted liver stiffness values for improved fibrosis staging in patients with hepatitis C virus and alcoholic liver disease.

    Science.gov (United States)

    Mueller, Sebastian; Englert, Stefan; Seitz, Helmut K; Badea, Radu I; Erhardt, Andreas; Bozaari, Bita; Beaugrand, Michel; Lupșor-Platon, Monica

    2015-12-01

    It is well known that inflammation increases liver stiffness (LS) in patients with chronic hepatitis C (HCV) and alcoholic liver disease (ALD) independent of fibrosis stage, but no inflammation-adapted cut-off values have been settled so far. An early identification of rapid fibrosers, however, is essential to decide whom to treat first with the novel but expensive antiviral drugs. Liver stiffness, biopsy-proven fibrosis stages F0-F4 (METAVIR or Kleiner score) and routine laboratory parameters were studied in 2068 patients with HCV (n = 1391) and ALD (n = 677). Among the routine parameters for liver damage, AST correlated best with LS (HCV: r = 0.54, P liver diseases. Especially in HCV, they could help to decide whom to treat first with the novel but expensive antiviral drugs. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Hyperfibrotic myelodysplasia: case report with response to steroid therapy Mielodisplasia hiperfibrótica: relato de caso com resposta à terapia com corticosteróides

    Directory of Open Access Journals (Sweden)

    Maura Romeo

    2002-01-01

    Full Text Available Context: Bone marrow fibrosis is observed in different clonal hematological disorders including myeloproliferative diseases, acute leukemias and myelodysplastic syndromes. In myelodysplastic syndrome a new clinical-pathological entity with significant increase in reticulin fibers has been suggested, and the term hyperfibrotic myelodysplasia was used to define it. Bone marrow biopsy shows increased reticulin fibers, megakaryocytic hyperplasia and dysplasia. Differential diagnosis with primary myelofibrosis may be difficult and hybrid cases may occur. Patients with hyperfibrotic myelodysplastic syndrome responding to treatment with steroids have been reported. In the majority of cases there was only hematological remission, although resolution of fibrosis occurred in one patient. Design: Case report. Case report: A 62-year old male presented in June 95 with a 6-month history of lethargy and dispnea. On examination he was pale without hepato-splenomegaly. Hemoglobin concentration was 3g/dL with marked anisocytosis without teardrop cells. Bone marrow aspirates resulted in dry tap. Bone marrow biopsy showed hypercellularity with increased fibrosis (grade IV obliterating the normal marrow architecture. Megakaryocytes were increased in number, with abnormal morphology. Monoclonal antibodies against factor VIII and CD31 revealed that both were expressed in megakaryocytes. Prednisone (1mg/Kg was introduced in June 1996, after what his symptoms lessened and hemoglobin increased. Bone marrow fibrosis decreased (grade IV to grade II. He has become transfusion independent till Jan/1999, when hemoglobin fell to 6g/dL and prednisone was reintroduced with a prompt rise in hemoglobin concentration.Contexto: A fibrose de medula óssea é encontrada em algumas doenças hematológicas clonais, incluindo síndromes mieloproliferativas, leucemias agudas e síndromes mielodisplásicas. Nas síndromes mielodisplásicas, uma nova entidade clinicopatológica com

  16. Neoplasias mieloproliferativas: revisão dos critérios diagnósticos e dos aspectos clínicos

    OpenAIRE

    Chauffaille,Maria de Lourdes L. F.

    2010-01-01

    As síndromes mieloproliferativas crônicas, atualmente denominadas neoplasias mieloproliferativas (NMP), de acordo com a 4ª. edição da classificação da Organização Mundial da Saúde (OMS), são doenças clonais de célula-tronco hematopoética, nas quais há a proliferação aumentada de uma ou mais das séries mieloides (granulocítica, eritrocítica, megacariocítica ou mastocítica) com maturação eficaz. A progressão de todas é caracterizada por fibrose medular ou transformação leucêmica. Pela classific...

  17. [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.

  18. 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.

  19. Estudo comparativo da reação inflamatória e da deposição de fibras colágenas induzidas por biopolímero da cana-de-açucar e polipropileno

    OpenAIRE

    Silveira, Arlon Breno Figueiredo Nunes da

    2014-01-01

    Introdução: O Sling é considerado padrão ouro para o tratamento da Incontinência Urinária de Esforço. Essa técnica cirúrgica utiliza um material sintético no espaço suburetral para prover um arcabouço de fibrose e corrigir a perda urinária. A partir do melaço da cana-de-açúcar, por síntese da bactéria Zoogloea sp., obtivemos o biopolímero da cana-de-açúcar que pode ser processado em forma de membrana. Nosso objetivo é avaliar a ação do biopolímero da cana-de-açúcar comparando-o...

  20. Alterações celulares, moleculares e funcionais de fígados de ratas Wistar tratadas com fatores hepatotróficos

    OpenAIRE

    Thiago Pinheiro Arrais Aloia

    2010-01-01

    Fatores hepatotróficos (FH) possuem a capacidade de promover aumento de massa hepática em ratos e diminuição da fibrose em animais cirróticos. Os FH podem ser importantes nos casos de ressecção e transplantes hepáticos no qual o fígado remanescente necessita de um volume considerável para exercer suas funções após a cirurgia. Objetivou-se neste trabalho avaliar a cinética de uma solução de FH em fígados de animais sadios. Utilizou-se 105 ratos Wistar fêmeas divididos em 7 grupos de 15 animais...

  1. The use of 197HgCl2 in the study of pseudo-tumoral pulmonary afflictions

    International Nuclear Information System (INIS)

    Biagini, C.; Centi Colella, A.; Pigorini, F.

    1975-01-01

    The utility of examinations with 197 HgCl 2 has been shown in the study of pseudo-tumoral pulmonary afflictions. The following points seem to be the most important. The real possibility of differential diagnosis between benign and malignant tumors if the uptake of radio-mercury is related to the volume of the lesion. The possibility of differential diagnosis between cancers and the after-effects of more inflammatory TBC and non-TBC processes (inactive tuberculomas, fibroses). In sub-acute and chronic inflammatory lesions, some indication is furnished by the behavior of the uptake ratio at 24 and 72 hours. The topographical definition of the tumoral lesion in the case where there are associated secondary phenomena (atelectasis, a small quantity of pleural effusion). Individualization of extrapulmonary metastases which are situated at the level of the brain and the thoracic skeleton. Evaluation of the modifications of proliferative activities of cancers during radiologic or medical treatment [fr

  2. Análise morfológica dos cotos neurais de ratos Wistar após segmentectomia do fascículo lateral do plexo braquial direito e treino aeróbico

    OpenAIRE

    Fernando Soares Camelier

    2011-01-01

    A lesão isolada do plexo braquial não apresenta alta mortalidade, porém são marcantes as limitações funcionais nesta patologia traumática. As sequelas graves da lesão estão associadas a diversos fatores, tais como, o padrão anatômico das raízes nervosas, seus ramos difusamente distribuídos, o intenso desenvolvimento de tecido fibroso ao redor dos cotos neurais lesados e o tratamento cirúrgico, que promove a formação de fibrose e prejudica a regeneração neural. Neste trabalho, provocamos a les...

  3. 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.

  4. New Treatments for Hair Loss.

    Science.gov (United States)

    Vañó-Galván, S; Camacho, F

    2017-04-01

    The treatment of hair loss is an important part of clinical dermatology given the prevalence of the problem and great impact on patients' quality of life. Many new treatments have been introduced in recent years. This review summarizes the main ones in 4 groups: a) For androgenetic alopecia, we discuss new excipients for oral minoxidil, dutasteride, and finasteride as well as new forms of topical application; prostaglandin agonists and antagonists; low-level laser therapy; and regenerative medicine with Wnt signaling activators and stem cell therapy. b) For alopecia areata, Janus kinase inhibitors are reviewed. c) For frontal fibrosing alopecia, we discuss the use of antiandrogens and, for some patients, pioglitazone. d) Finally, we mention new robotic devices for hair transplant procedures and techniques for optimal follicular unit extraction. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Medical image of the week: superior vena cava syndrome

    Directory of Open Access Journals (Sweden)

    Ateeli H

    2016-08-01

    Full Text Available Superior vena cava (SVC syndrome results from obstruction of blood flow in the SVC. Most cases are secondary to malignancy, the most common being lung cancer or non-Hodgkin lymphoma. Other less encountered etiologies include fibrosing mediastinitis and thrombosis associated with intravascular devices (1,2. Here, we present a case of advanced lung cancer undergoing chemo-radiation therapy who presented with typical symptoms of SVC syndrome including progressive shortness of breath and facial swelling/ fullness over weeks to months. His chest CT scan showed SVC obstruction due to his tumor mass (Figure 1. The patient underwent stenting and improved partially for sometime. However, he returned again with worsening symptoms over a few weeks with discovery of SVC in-stent thrombosis. He was started on therapeutic enoxaparin and his symptoms improved partially with time.

  6. Paracoccidioidomicose pulmonar assintomática e regressiva, com posterior disseminação: relato de um caso

    Directory of Open Access Journals (Sweden)

    Bodo Wanke

    1983-09-01

    Full Text Available É relatado o caso de um homem aparentemente sadio no qual uma abreugrafia de rotina evidenciou lesões pulmonares. Enquanto se buscava a etiologia, as lesões radiológicas foram regredindo espontaneamente até restar apenas fibrose. Por apresentar linhas de precipitação específicas frente à paracoccidioidina na prova de imunodifusão dupla em gel de agar, o paciente foi revisto 3 meses após. Nesta ocasião, persistindo a positividaàe da sorologia e a radiografia de tórax normal, surgiu uma lesão labial, na qual, ao exame microscópico, foi possível demonstrar a presença do Paracoccidioides brasiliensis. Os autores ressaltam as dificuldades diagnosticas do caso e o correlacionam com as formas clinicas da doença.

  7. Bone marrow stroma in idiopathic myelofibrosis and other haematological diseases. An immunohistochemical study

    DEFF Research Database (Denmark)

    Lisse, I; Hasselbalch, H; Junker, P

    1991-01-01

    Bone marrow stroma was investigated immunohistochemically in 31 patients with haematological diseases, mainly idiopathic myelofibrosis (n = 8) and related chronic myeloproliferative disorders (n = 14). The bone marrow from patients with idiopathic myelofibrosis and some CML patients showed marked...... staining reactions with antibodies against type III procollagen (pN collagen), type IV collagen, fragment P1 of laminin and factor VIII. Patients with osteomyelosclerosis had particularly increased collagen content, including both newly deposited type III collagen (pN collagen) and mature collagen fibres....... As in normal bone marrow, argyrophilic fibres and type III collagen displayed a close co-distribution, which was also demonstrated for type IV collagen and laminin. While normal bone marrow sinusoids had discontinuous basement membranes, fibrosing bone marrow was characterized by endothelial cell proliferation...

  8. Implicações do consumo de fibras alimentares na doença hepática gordurosa não alcoólica de adultos em programa para modificação do estilo de vidaImplicações do consumo de fibras alimentares na doença hepática gordurosa não alcoólica de adultos em programa para modificação do estilo de vida

    OpenAIRE

    Ramos, Fernanda Maria Manzini [UNESP

    2016-01-01

    A Doença hepática gordurosa não alcoólica (DHGNA) se refere ao acúmulo de gordura hepática e pode evoluir para esteatohepatite, fibrose, cirrose e hepatocarcinoma. O principal fator que leva ao acúmulo de gordura hepática é a obesidade, principalmente visceral. Para o controle da doença deve-se focar na mudança do estilo de vida com associação entre prática de exercício físico e intervenção nutricional. Esse estudo teve como objetivo avaliar o consumo adequado de fibras associado a programa s...

  9. Dopplerfluxometria da veia hepática em pacientes com esteatose não alcoólica

    OpenAIRE

    Borges, Valéria Ferreira de Almeida e; Diniz, Angélica Lemos Debs; Cotrim, Helma Pinchemel; Rocha, Haroldo Luis Oliva Gomes; Salomão, Frederico Chaves

    2011-01-01

    OBJETIVO: Avaliar a correlação entre a dopplerfluxometria da veia hepática direita e o grau de esteatose, inflamação e fibrose à biópsia na doença hepática gordurosa não alcoólica. MATERIAIS E MÉTODOS: Foi realizada ultrassonografia com Doppler em 80 pacientes, sendo 40 portadores de doença hepática gordurosa não alcoólica, também submetidos à biópsia. Quarenta controles normais saudáveis, sem fatores risco para doença hepática gordurosa não alcoólica foram submetidos a ultrassonografia com D...

  10. Chemotherapeutic drug induced pneumonitis

    International Nuclear Information System (INIS)

    Schmidt, M.; Brugger, E.

    1981-01-01

    A series of chemotherapeutic drugs is known to induce interstitial lung disease of letal outcome. Diffuse fibrosing interstitial pneumonias are more frequently observed due to Busulfan, Bleomycin, BCNU or Methotrexat therapy. As well literature as our own investigations demonstrate low sensitivity of X-ray controlls in diagnosing beginning changes. Lung function tests including diffusion capacity analysis are more practicable to recognize early phases of disease. Nevertheless, clinical practice shows patients being moust sensitive in decovering beginning decreases of lung function. Exercise induced dyspnea, raw cough and often fever, dyspnea at rest and finally pulmonary insufficiency will be the climax of symptoms. All patients treated with Busulfan, Bleomycin, BCNU and probably Methotrexat should regulary be controlled by lung function analysis. (orig.) [de

  11. Bioavailability of very finely distributed metallic platinum in the lungs and first orienting studies on effects. Part 2; Bioverfuegbarkeit von feinstverteiltem metallischem Platin in der Lunge und erste orientierende Wirkungsuntersuchungen (VPT 09; 2. Teil)

    Energy Technology Data Exchange (ETDEWEB)

    Emmendoerffer, A. [Fraunhofer-Institut fuer Toxikologie und Aerosolforschung, Hannover (Germany)

    1997-12-31

    Platinum is emitted from automotive catalytic converters in particulate form. The first organ to be exposed to it after its uptake by the organism is the lung. Lung macrophages therefore constitute the first barrier of the immune system which can to react to platinum. In this study the production of nitrogen oxides and cytokines was studied. These parameters play an important role in the initiation of inflammation and in the maintenance of chronic inflammatory processes that can lead to fibrosis of the lung. [Deutsch] Platin wird partikulaer aus Automobilabgaskatalysatoren emittiert. Das erste Zielorgan fuer eine Aufnahme im Organismus ist deshalb die Lunge. Die Lungenmakrophagen stellen also die erste Barriere des Immunsystems dar, das auf Platin reagieren kann. In vitro wurde die Produktion von Stickoxiden und Zytokinen untersucht. Diese Parameter spielen eine Rolle bei der Initiation von Entzuendungen und auch bei der Aufrechterhaltung chronisch entzuendlicher Prozesse, die in der Lunge zu einer Fibrose fuehren koennen. (orig.)

  12. 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.

  13. Role of matrix metalloproteinases in the pathophysiology of idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Bhattacharyya P

    2007-01-01

    Full Text Available Idiopathic pulmonary fibrosis (IPF, a progressive fibrosing lung condition is a ther-apeutic medical challenge. The etiopathogenesis of IPF is complicated and hitherto not adequately understood. However, the concept, of late, is shifting from fibrosis as a result of inflammation to a mechanism of primarily dysregulated fibrogenesis. A class of enzymes called matrix metallo proteinases (MMPs appear important in the pathogenesis of IPF. The heightened activity of MMPs are derived out of an imbalance between them (MMPs and their tissue inhibitors (TIMPs. This leads to breakdown of interstitial matrix and triggering of certain growth factors which play an important mechanistic role in the pathogenesis of IPF. Understanding of the role of MMPs in pathogenesis of IPF may open up a new horizon of therapeutic intervention of the desease.

  14. Evaluation of surgical margins according to the histological type of basal cell carcinoma.

    Science.gov (United States)

    Godoy, Charles Antonio Pires de; Neta, Alice Lima de Oliveira; Leão, Sofia Silveira de Souza; Dantas, Raul Lima; Carvalho, Valeska Oliveira Fonseca; Silva, Samuel Freire da

    2017-01-01

    Basal cell carcinoma is the most common skin cancer in the world. The aim of this study was to evaluate the surgical margin of basal cell carcinoma and correlate this with its histologic subtype. A retrospective analysis of pathology laboratory records from 1990 to 2000 was performed and the following data was collected: age, sex, race, anatomical location, histological type, and state of the excision margins in 1,428 histopathological reports of basal cell carcinoma. Ages ranged from 6 to 99 years, with an average of 57. There was a slight predominance of lesions in white women patients, and the most common histological subtype was the nodular, followed by the superficial. The most common locations were in the head and neck, with highest prevalence appeared in the nose. Surgical margins revealed a lateral involvement of 20.14% and a deep involvement of 12.47%. The fibrosing basal cell carcinoma is the histological type that most often presented positive surgical margins.

  15. Management of the kidney transplant patient with chronic hepatitis C infection.

    Science.gov (United States)

    Tang, Ignatius Y S; Walzer, Natasha; Aggarwal, Nidhi; Tzvetanov, Ivo; Cotler, Scott; Benedetti, Enrico

    2011-01-01

    Chronic Hepatitis C (HCV) infection is an important cause of morbidity and mortality in patients with end-stage renal disease. Renal transplantation confers a survival advantage in HCV-infected patients. Renal transplant candidates with serologic evidence of HCV infection should undergo a liver biopsy to assess for fibrosis and cirrhosis. Patients with Metavir fibrosis score ≤3 and compensated cirrhosis should be evaluated for interferon-based therapy. Achievement of sustained virological response (SVR) may reduce the risks for both posttransplantation hepatic and extrahepatic complications such as de novo or recurrent glomerulonephritis associated with HCV. Patients who cannot achieve SVR and have no live kidney donor may be considered for HCV-positive kidneys. Interferon should be avoided after kidney transplant except for treatment of life-threatening liver injury, such as fibrosing cholestatic hepatitis. Early detection, prevention, and treatment of complications due to chronic HCV infection may improve the outcomes of kidney transplant recipients with chronic HCV infection.

  16. Pentazocine-induced leg ulcers and fibrous papules

    Directory of Open Access Journals (Sweden)

    De Dipankar

    2007-01-01

    Full Text Available We herein describe a case of 55-year-old farmer, who presented with chronic non-healing ulcers over both shins of 4 years duration. Intravenous drug abuse was suspected due to inability to find any venous access and all peripheral veins being found thickened and fibrosed. There were multiple atrophic scars in linear distribution in all limbs as well as in both groins. In addition there were multiple discrete fibrous papules in linear distribution on both hands, which were more obvious on the left side. The patient denied abusing intravenous drugs. However, his relatives confirmed that he abused pentazocine for almost one year before his chronic pain in abdomen was treated by appendicectomy. With subsequent counseling, it was found that he continued to abuse pentazocine at times even after surgery leading to the non-healing of ulcers.

  17. Pathogenesis of Idiopathic Pulmonary Fibrosis

    Science.gov (United States)

    Wolters, Paul J.; Collard, Harold R.; Jones, Kirk D.

    2014-01-01

    Idiopathic pulmonary fibrosis (IPF) is a fibrosing interstitial lung disease associated with aging that is characterized by the histopathological pattern of usual interstitial pneumonia. Although an understanding of the pathogenesis of IPF is incomplete, recent advances delineating specific clinical and pathologic features of IPF have led to better definition of the molecular pathways that are pathologically activated in the disease. In this review we highlight several of these advances, with a focus on genetic predisposition to IPF and how genetic changes, which occur primarily in epithelial cells, lead to activation of profibrotic pathways in epithelial cells. We then discuss the pathologic changes within IPF fibroblasts and the extracellular matrix, and we conclude with a summary of how these profibrotic pathways may be interrelated. PMID:24050627

  18. Chemotherapeutic drug induced pneumonitis

    Energy Technology Data Exchange (ETDEWEB)

    Schmidt, M.; Brugger, E.

    1981-09-01

    A series of chemotherapeutic drugs is known to induce interstitial lung disease of letal outcome. Diffuse fibrosing interstitial pneumonias are more frequently observed due to Busulfan, Bleomycin, BCNU or Methotrexat therapy. As well literature as our own investigations demonstrate low sensitivity of X-ray controlls in diagnosing beginning changes. Lung function tests including diffusion capacity analysis are more practicable to recognize early phases of disease. Nevertheless, clinical practice shows patients being moust sensitive in decovering beginning decreases of lung function. Exercise induced dyspnea, raw cough and often fever, dyspnea at rest and finally pulmonary insufficiency will be the climax of symptoms. All patients treated with Busulfan, Bleomycin, BCNU and probably Methotrexat should regulary be controlled by lung function analysis.

  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. Chronic hypersensitivity pneumonitis

    Directory of Open Access Journals (Sweden)

    Pereira CA

    2016-09-01

    Full Text Available Carlos AC Pereira,1 Andréa Gimenez,2 Lilian Kuranishi,2 Karin Storrer 2 1Interstitial Lung Diseases Program, 2Pulmonology Postgraduate, Federal University of São Paulo, São Paulo, Brazil Abstract: 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. Keywords: interstitial lung diseases, extrinsic allergic alveolitis, diffuse lung disease, lung immune response, HRCT, farmers lung

  1. 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.

  2. HRCT of the lung in collagen vascular diseases

    International Nuclear Information System (INIS)

    Diederich, S.; Roos, N.; Schmitz-Linneweber, B.; Gaubitz, M.; Peters, P.E.

    1996-01-01

    Collagen vascular diseases, representing systemic soft tissue disorders, may cause a broad spectrum of pathologic changes of the respiratory tract. The type and extent of manifestations can vary considerably among individuals and entities. This survey describes the chest radiographic and, in particular, high-resolution computed tomographic and, in particular, high-resolution computed tomographic (HRCT) findings of individual lesions of the respiratory tract. It includes fibrosing alveolitis (alveolitis, interstitial pneumonia, pulmonary fibrosis) and bronchial (bronchitis/bronchiolitis, bronchiectasis), pleural and vascular manifestations, as well as lymphadenopathy and abnormalities related to therapy. We present typical patterns of changes in progressive systemic sclerosis (PSS, scleroderma), systemic lupus erythematosus (SLE), mixed connective tissue disease (MCTD, Sharp syndrome), Sjoegren syndrome, overlap syndrome and rheumatoid arthritis (RA). Furthermore, we describe findings which are specific for individual entities such as esophageal involvement in PSS, acute pneumonitis and pulmonary hemorrhage in SLE, lymphoproliferative disease in Sjoegren syndrome and necrobiotic nodules in RA. (orig.) [de

  3. Opacidades em vidro fosco nas doenças pulmonares difusas: correlação da tomografia computadorizada de alta resolução com a anatomopatologia Ground-glass opacity in diffuse lung diseases: high-resolution computed tomography-pathology correlation

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    Maria Lúcia de Oliveira Santos

    2003-12-01

    Full Text Available Opacidade em vidro fosco é achado freqüentemente visto na tomografia computadorizada de alta resolução do tórax e se traduz pelo aumento do coeficiente de atenuação dos pulmões, mas sem apagar as marcas broncovasculares. Por sua inespecificidade, a associação com outros achados radiológicos, clínicos e anatomopatológicos deve ser considerada para uma interpretação diagnóstica mais correta. Neste trabalho foram analisados 62 exames tomográficos de pacientes com doenças pulmonares difusas, de 14 etiologias diferentes, em que opacidades em vidro fosco foram o achado único ou predominante, e feita correlação anatomopatológica por meio de biópsias ou necropsias. Na pneumocistose as opacidades em vidro fosco corresponderam, histologicamente, à ocupação alveolar por material espumoso contendo parasitos; no carcinoma bronquíolo-alveolar, a espessamento dos septos alveolares e ocupação de sua luz por muco e células tumorais; na paracoccidioidomicose, a espessamento dos septos alveolares, áreas de fibrose e alvéolos contendo exsudato broncopneumônico; na sarcoidose, a fibrose ou a acúmulo de granulomas; na fibrose pulmonar idiopática, a espessamento dos septos alveolares por fibrose; na bronquiolite obliterante com pneumonia em organização, a pneumonia intersticial com áreas de organização intra-alveolar. A ocupação alveolar por sangue foi observada nos casos de leptospirose, hemossiderose idiopática, metástases de tumor renal e na aspergilose invasiva; por vacúolos de gordura na pneumonia lipídica; por material protéico e lipoprotéico na silicoproteinose e na proteinose alveolar; e por líquido de edema na insuficiência cardíaca congestiva.Ground-glass opacity is a finding frequently seen in high-resolution computed tomography examinations of the chest and is characterized by hazy increased attenuation of lung, however without blurring of bronchial and vascular margins. Due to its unspecificity

  4. Uso de macrolídeos em doenças pulmonares: controvérsias da literatura recente

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    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.

  5. Influência de polimorfismos em genes de citocinas e de receptores de citocinas na resposta ao tratamento e no grau do dano hepático em pacientes portadores de hepatite C crônica

    OpenAIRE

    Moreira, Sara Tatiana

    2012-01-01

    Resumo: O vírus da hepatite C (HCV) é um patógeno capaz de causar infecção crônica em cerca de dois terços dos indivíduos infectados, conseqüência de suas habilidades em driblar tanto a imunidade inata quanto a adquirida. A fibrose é resultado de injúrias repetitivas causadas aos hepatócitos decorrente da infecção pelo HCV e da ação da resposta imunológica, que levam a uma falha no processo regenerativo e deposição de uma quantidade abundante de matriz extracelular. Citocinas regulam a respos...

  6. Novel approach for identification of left ventricle geometry in patients with chronic heart failure, AH and IHD in combination with COPD

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    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.

  7. Lesions in nerves and plexus after radiotherapy

    International Nuclear Information System (INIS)

    Vees, W.

    1978-01-01

    Apart from the typical, radiation-induced changes in the skin, common secondary findings were oedemas, radiation-induced ulceration, fibroses of the mediastinum and lungs, pleura adhesions, and osteoradionecroses. In one patient with radiogenic paresis of the plexus brachialis, irradiation of the spinal cord because of epidural metastases of a mammary carcinoma resulted in radiation myelopathy which was verified by laminectomy. Observations of radiogenic lesions of the plexus brachialis show that the usual site of the lesion in the vasomotoric nerve bundle is the axilla. The lesion is assumed to be caused mainly by an overlapping of the axillary, infraclavicular and supraclavicular fields of irradiation which results in a dose peak in the axilla. (orig./AJ) 891 AJ/orig.- 892 MKO [de

  8. The antiviral drug tenofovir, an inhibitor of Pannexin-1-mediated ATP release, prevents liver and skin fibrosis by downregulating adenosine levels in the liver and skin.

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    Jessica L Feig

    Full Text Available Fibrosing diseases are a leading cause of morbidity and mortality worldwide and, therefore, there is a need for safe and effective antifibrotic therapies. Adenosine, generated extracellularly by the dephosphorylation of adenine nucleotides, ligates specific receptors which play a critical role in development of hepatic and dermal fibrosis. Results of recent clinical trials indicate that tenofovir, a widely used antiviral agent, reverses hepatic fibrosis/cirrhosis in patients with chronic hepatitis B infection. Belonging to the class of acyclic nucleoside phosphonates, tenofovir is an analogue of AMP. We tested the hypothesis that tenofovir has direct antifibrotic effects in vivo by interfering with adenosine pathways of fibrosis using two distinct models of adenosine and A2AR-mediated fibrosis.Thioacetamide (100mg/kg IP-treated mice were treated with vehicle, or tenofovir (75mg/kg, SubQ (n = 5-10. Bleomycin (0.25U, SubQ-treated mice were treated with vehicle or tenofovir (75mg/kg, IP (n = 5-10. Adenosine levels were determined by HPLC, and ATP release was quantitated as luciferase-dependent bioluminescence. Skin breaking strength was analysed and H&E and picrosirus red-stained slides were imaged. Pannexin-1expression was knocked down following retroviral-mediated expression of of Pannexin-1-specific or scrambled siRNA.Treatment of mice with tenofovir diminished adenosine release from the skin of bleomycin-treated mice and the liver of thioacetamide-treated mice, models of diffuse skin fibrosis and hepatic cirrhosis, respectively. More importantly, tenofovir treatment diminished skin and liver fibrosis in these models. Tenofovir diminished extracellular adenosine concentrations by inhibiting, in a dose-dependent fashion, cellular ATP release but not in cells lacking Pannexin-1.These studies suggest that tenofovir, a widely used antiviral agent, could be useful in the treatment of fibrosing diseases.

  9. Ledipasvir and Sofosbuvir Plus Ribavirin for Treatment of HCV Infection in Patients With Advanced Liver Disease.

    Science.gov (United States)

    Charlton, Michael; Everson, Gregory T; Flamm, Steven L; Kumar, Princy; Landis, Charles; Brown, Robert S; Fried, Michael W; Terrault, Norah A; O'Leary, Jacqueline G; Vargas, Hugo E; Kuo, Alexander; Schiff, Eugene; Sulkowski, Mark S; Gilroy, Richard; Watt, Kymberly D; Brown, Kimberly; Kwo, Paul; Pungpapong, Surakit; Korenblat, Kevin M; Muir, Andrew J; Teperman, Lewis; Fontana, Robert J; Denning, Jill; Arterburn, Sarah; Dvory-Sobol, Hadas; Brandt-Sarif, Theo; Pang, Phillip S; McHutchison, John G; Reddy, K Rajender; Afdhal, Nezam

    2015-09-01

    There are no effective and safe treatments for chronic hepatitis C virus (HCV) infection of patients who have advanced liver disease. In this phase 2, open-label study, we assessed treatment with the NS5A inhibitor ledipasvir, the nucleotide polymerase inhibitor sofosbuvir, and ribavirin in patients infected with HCV genotypes 1 or 4. Cohort A enrolled patients with cirrhosis and moderate or severe hepatic impairment who had not undergone liver transplantation. Cohort B enrolled patients who had undergone liver transplantation: those without cirrhosis; those with cirrhosis and mild, moderate, or severe hepatic impairment; and those with fibrosing cholestatic hepatitis. Patients were assigned randomly (1:1) to receive 12 or 24 weeks of a fixed-dose combination tablet containing ledipasvir and sofosbuvir, once daily, plus ribavirin. The primary end point was sustained virologic response at 12 weeks after the end of treatment (SVR12). We enrolled 337 patients, 332 (99%) with HCV genotype 1 infection and 5 (1%) with HCV genotype 4 infection. In cohort A (nontransplant), SVR12 was achieved by 86%-89% of patients. In cohort B (transplant recipients), SVR12 was achieved by 96%-98% of patients without cirrhosis or with compensated cirrhosis, by 85%-88% of patients with moderate hepatic impairment, by 60%-75% of patients with severe hepatic impairment, and by all 6 patients with fibrosing cholestatic hepatitis. Response rates in the 12- and 24-week groups were similar. Thirteen patients (4%) discontinued the ledipasvir and sofosbuvir combination prematurely because of adverse events; 10 patients died, mainly from complications related to hepatic decompensation. The combination of ledipasvir, sofosbuvir, and ribavirin for 12 weeks produced high rates of SVR12 in patients with advanced liver disease, including those with decompensated cirrhosis before and after liver transplantation. ClinTrials.gov: NCT01938430. Copyright © 2015 AGA Institute. Published by Elsevier Inc

  10. Clearance of inhaled technetium-99m-DTPA as a clinical index of pulmonary vascular disease in systemic sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Kon, O.M.; Daniil, Z.; Bois, R.M. du [Royal Brompton Hospital, Interstitial Lung Disease Unit, London (United Kingdom); Black, C.M. [Royal Free Hospital, Dept. of Rheumatology, London (United Kingdom)

    1999-01-01

    This study evaluated the utility of the clearance time of inhaled diethylenetriamine pentaacetate (DTPA) to distinguish pulmonary vascular disease from early fibrosing alveolitis (FA) in patients with systemic sclerosis (SSc) It was hypothesized that this would be preserved in patients with vascular disease compared with FA, despite similar gas-transfer deficits and matching lung volumes, because of the preservation of alveolar epithelial integrity. All patients had SSc and were categorized into a control group (C; n=9), pulmonary vascular group (VAS; n=14) or FA group (n=14) dependent on the appearance on a computed tomography (CT) scan and the transfer factor of the lung for carbon monoxide (TL,CO) (VAS and FA {<=}70%, C {>=}80%). All patients had a forced vital capacity (FVC) of >80%. The TL,CO (median) was similar in the VAS (57.5%) and FA (60%) groups. There was a significant difference in median DTPA clearance half-times between FA (21.25 min) and VAS (46.5 min) (p=0.014) and between FA and C (84.5 min) (p=0.0004). No difference was found between VAS and C (p=0.0778). Follow-up data from the VAS group showed no subsequent development of FA on the CT scan and no decrease in FVC (n=13, mean 42 months). These results suggest that clearance of diethylenetriamine pentaacetate is preserved in patients likely to have pulmonary vascular disease and may be useful in distinguishing fibrosing alveolitis from vascular disease in systemic sclerosis. (au) 22 refs.

  11. AVALIAÇÃO DO POTENCIAL TERAPÊUTICO DE BACCHARIS DRACUNCULIFOLIA E PEUMUS BOLDUS NO PROCESSO FIBROSANTE HEPÁTICO

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    Caio Mateus da Silva

    2017-03-01

    Full Text Available As doenças do fígado são consideradas um problema de saúde mundial e ainda terapias eficientes não foram desenvolvidas para a maioria dessas patologias. Mais especificamente, a fibrose hepática é característica comum do início de várias das anomalias no órgão. Dentro desse contexto, a busca por novos fármacos é necessária e o uso de plantas medicinais tem ganhado destaque. Neste trabalho, foi avaliado os efeitos dos extratos de Baccharis dracunculifolia e Peumus boldus em culturas de células hepáticas estreladas LX-2 em relação as alterações na morfologia dos filamentos de actina do citoesqueleto e no núcleo celular em ensaios de microscopia e na avaliação do padrão de expressão de genes relacionados à processos de apoptose e marcadores clássicos da fibrose hepática. Nos resultados, para as concentrações testadas o extrato de P. boldus altera o perfil de expressão de genes relacionados a apoptose causando maior estresse celular e quebrando a homeostase celular quando observados os filamentos de actina. Enquanto que a planta B. dracunculifolia apresentou uma grande melhora na reorganização do citoesqueleto e diminuição do estresse celular.

  12. Histopathological approach to patterns of interstitial pneumonia in patient with connective tissue disorders.

    Science.gov (United States)

    Nicholson, Andrew G; Colby, Thomas V; Wells, Athol U

    2002-03-01

    It is well established that some patients with connective tissue disorders will suffer from pulmonary disease at some stage in their disease progression. This article concentrates on the interstitial pneumonias, seen in association with most types of connective tissue disorder, particularly in the ligh of non-specific interstitial pneumonia (NSIP) being recognised as a distinct histological pattern. Most published articles on this subject precede recognition of NSIP and, as such, the relative incidence of patterns of interstitial pneumonia, as defined by the International Consensus Classification Committee for Interstitial Lung Disease (ICCILD), as well as the clinical and prognostic significance of these patterns is undergoing further scrutiny. In this review, the recognised histological patterns, namely usual interstitial pneumonia (UIP), non-specific interstitial pneumonia (NSIP), diffuse alveolar damage (DAD), organising pneumonia (OP), reactive pulmonary lymphoid hyperplasia, desquamative interstitial pneumonia (DIP) and respiratory bronchiolitis-associated interstitial lung disease (RBILD) are reviewed systematically in relation to the various subgroups of connective tissue disorders. As yet, there are few published studies, but current evidence suggests that many cases previously classified as fibrosing alveolitis are likely to show a pattern of NSIP rather than UIP, particularly in relation to systemic sclerosis. The histological pattern of usual interstitial pneumonia, the most frequently seen pattern in biopsies from patients with idiopathic pulmonary fibrosis/cryptogenic fibrosing alveolitis, appears to be comparatively rare. Furthermore, any biopsy showing a combination of histological patterns, a pattern of non-specific interstitial pneumonia or a pattern of lymphoid interstitial pneumonia/follicular bronchiolitis should be thoroughly investigated for a background connective tissue disorder, if previously unsuspected. Finally, the recently published

  13. The dynamicity of the mesonephros microstructure in bream (Abramis brama Linnaeus, 1758 of the Dnieper-Bug estuary system in relation to spawning migration

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    K. Heina

    2017-06-01

    Full Text Available Purpose. To analyze the mesonephros structure in the bream (Abramis brama Linnaeus, 1758 during its spawning migration, to determine the perspective of the use of microanatomical monitoring data in fisheries practice for assessing the functional status of fish. Methodology. Collection of ichthyological material was carried out using permit documents of the Institute of Fisheries NAAS of Ukraine, while their processing was done at the Department of Aquatic Bioresources and Aquaculture of the Kherson State Agricultural University. Ichthyological material was collected using gill nets, fyke nets, beach seines. Monitoring stations were located along the spawning migration run of the bream from the Dnieper lagoon to the plavni system of the Dnieper River. Field and laboratory processing of the material was done using author’s equipment and original methods specially designed for histological diagnostics of tissues of aquatic animals. Findings. The basis of the adaptation of bream kidneys to waters of different salinities us structural irregularity of nephrons expressed in the size and structure of renal corpuscles and convoluted tubules. Significant fluctuations of osmolarity parameters within the lower Dnieper area have significant effects on changes in the structure and function of nephrogenic tissue in form of the reduction in the diameter of Boumen-Shumliansky capsule by 9.0 µm. Changes of the Boumen-Shumliansky capsule diameter in fish with moderate mineralization is the range of 6.0 and 4.0 µm. The reduction in the height of epitheliocytes of proximal convoluted tubules by 3.0; 2.0 and 4.0 µm also indicate on the reduction of the functional activity of the convolute. The fluctuations of nephrogenic and homeopathic tissue ratio have a balance nature that can be related to the redistribution of these components due to the appearance of an adaptation under the effect of chloride-ions. The dislocation of ion-transporting cells near the blood

  14. National surveillance of poultry diseases in Lebanon.

    Science.gov (United States)

    Barbour, E K; Hamadeh, S K; Hilan, C; Kallas, M; Eid, A; Sakr, W

    1997-12-01

    From 1992 to mid-1996, a national survey of poultry diseases in Lebanon was conducted. This surveillance included meat breeder, layer breeder, commercial layer and chicken broiler flocks. The history, signs, lesions and laboratory tests of poultry were used in the diagnosis of prevalent poultry diseases. Culture techniques were used to screen for bacterial diseases; serological techniques and, to a lesser extent, culture techniques were used to diagnose viral diseases; and both serological and culture techniques were used to diagnose Mycoplasma infections. The outbreaks of diseases detected in broiler breeder flocks and the number of such flocks experiencing these diseases were as follows: femoral head necrosis (6), egg-drop syndrome (3), reovirus-associated malabsorption syndrome (3), synovitis (Mycoplasma synoviae infection) (7), swollen head syndrome (SHS) (3), tenosynovitis (viral arthritis) (1), lymphoid leukosis (3), avian encephalomyelitis (1), fowl pox (1) and aortic rupture (1). The disease outbreaks detected in layer breeders were as follows: SHS (2), bumble foot (2), egg-drop syndrome (3) and avian infectious bronchitis (IB) (1). The disease outbreaks detected in commercial layer flocks were as follows: egg-drop syndrome (5), avian infectious laryngotracheitis (2), avian IB (nephrogenic strain) (1), malabsorption (1), avian tuberculosis (Mycobacterium avium) (1), Marek's disease (1), fowl pox (1), Salmonella enterica subsp. enterica Enteritidis infection (1), salpingitis (1) and Heterakis gallinae infestation (1). The disease outbreaks detected in broiler flocks were as follows: colibacillosis (40), infectious bursal disease (Gumboro disease) (15), malabsorption syndrome (8), avian infectious laryngotracheitis (8), paratyphoids (salmonellosis) (7), femoral head necrosis (8), SHS (6), avian mycoplasmosis (Mycoplasma gallisepticum infection) (6), synovitis (7), avian IB (6), botulism (1), avian encephalomyelitis (1) and gangrenous dermatitis (1). Diseases

  15. Metabolic Side Effects of Lithium

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    M. Cagdas Eker

    2010-04-01

    Full Text Available Lithium is an alkaline ion being used since 19th century. After its widespread use in psychiatric disorders, observed side effects caused skepticism about its therapeutic efficacy. Despite several disadvantages, lithium is one of the indispensible drugs used in affective disorders, especially in bipolar disorder. It became a necessity for physicians to recognize its side effects since lithium is still accepted as a gold standard in the treatment of bipolar disorder. Adverse effects of chronic administration of lithium on several organ systems are widely known. In this article metabolic effects of lithium on thyroid and parathyroid glands, body mass index and kidneys will be discussed along with their mechanisms, clinical findings, possible risk factors and treatment. One of the most common side effect of lithium is hypothyroidism. It has the same clinical and biochemical properties as primary hypothyroidism and observed as subclinical hypothyroidism in the first place. Hypothyroidism, even its subclinical form, may be associated with non-response or inadequate response and is indicated as a risk factor for development of rapid cycling bipolar disorder. Therefore, hypothyroidism should be screened no matter how severe it is and should be treated with thyroid hormone in the presence of clinical hypothyroidism. Weight gain due to lithium administration disturbs the compliance to treatment and negatively affects the course of the illness. Increased risk for diabetes, hypertension, ischemic heart disease and stroke because of weight gain constitute other centers of problem. Indeed, it is of importance to determine the risk factors before treatment, to follow up the weight, to re-organize nutritional habits and to schedule exercises. Another frequent problematic side effect of lithium treatment is renal dysfunction which clinically present as nephrogenic diabetes insipidus with the common symptoms of polyuria and polydipsia. Nephrogenic diabetes

  16. Calpastatin overexpression prevents progression of S-1,2-dichlorovinyl-L-cysteine (DCVC)-initiated acute renal injury and renal failure (ARF) in diabetes

    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

    Previously we have shown that 90% of streptozotocin (STZ)-induced type-1 diabetic (DB) mice survive from acute renal failure (ARF) and death induced by a normally LD 9 dose (75 mg/kg, i.p.) of the nephrotoxicant S-1,2-dichlorovinyl-L-cysteine (DCVC). This remarkable protection is due to a combination of slower progression of DCVC-initiated renal injury and increased compensatory nephrogenic tissue repair in the DB kidneys. BRDU immunohistochemistry revealed that the DB condition led to 4-fold higher number of proximal tubular cells (PTC) entering S-phase of cell cycle. In the present study, we tested the hypothesis that DB-induced augmentation of PTC into S-phase is accompanied by overexpression of the calpain-inhibitor calpastatin, which endogenously prevents the progression of DCVC-initiated renal injury mediated by the calpain escaping out of damaged PTCs. Immunohistochemical detection of renal calpain and its activity in the urine, over a time course after treatment with the LD 9 dose of DCVC, indicated progressive increase in leakage of calpain into the extracellular spaces of the injured PTCs of the non-diabetic (NDB) kidneys as compared to the DB kidneys. Calpastatin expression was minimally detected in the NDB kidneys, using immunohistochemistry, over the time course. On the other hand, consistently higher number of tubules in the DB kidney showed calpastatin expression over the time course. The lower leakage of calpain in the DB kidneys was commensurate with constitutively higher expression of calpastatin in the S-phase-laden PTCs of these mice. To test the protective role of newly divided/dividing PTCs, DB mice were given the anti-mitotic agent colchicine (CLC) (2 mg/kg and 1.5 mg/kg, i.p., on days 8 and 10 after STZ injection) prior to challenge with a LD 9 dose of DCVC, which led to 100% mortality by 48 h. Mortality was due to rapid progression of DCVC-initiated renal injury, suggesting that newly divided/dividing cells are instrumental in mitigating

  17. Therapeutic potential of kava in the treatment of anxiety disorders.

    Science.gov (United States)

    Singh, Yadhu N; Singh, Nirbhay N

    2002-01-01

    Anxiety disorders are among the most common psychiatric disorders that affect all age groups of the general population. Currently, the preferred treatment is with pharmacological drugs that have antidepressant or anti-anxiety properties. However, these agents have numerous and often serious adverse effects, including sedation, impaired cognition, ataxia, aggression, sexual dysfunction, tolerance and dependence. Withdrawal reactions on termination after long-term administration are also a major limiting factor in the use of these agents. Herbal remedies, including kava (Piper methysticum), have been shown to be effective as alternative treatments, at least in mild to moderate cases of anxiety. Kava is a social and ceremonial herb from the South Pacific. It is available in the west as an over-the-counter preparation. Its biological effects, due to a mixture of compounds called kavalactones, are reported to include sedative, anxiolytic, antistress, analgesic, local anaesthetic, anticonvulsant and neuroprotective properties. The pharmacological properties of kava are postulated to include blockade of voltage-gated sodium ion channels, enhanced ligand binding to gamma-aminobutyric acid (GABA) type A receptors, diminished excitatory neurotransmitter release due to calcium ion channel blockade, reduced neuronal reuptake of noradrenaline (norepinephrine), reversible inhibition of monoamine oxidase B and suppression of the synthesis of the eicosanoid thromboxane A(2), which antagonises GABA(A) receptor function. Clinical studies have shown that kava and kavalactones are effective in the treatment of anxiety at subclinical and clinical levels, anxiety associated with menopause and anxiety due to various medical conditions. Until recently, the adverse effects attributed to kava use were considered mild or negligible, except for the occurrence of a skin lesion. This disorder, called kava dermopathy, occurs only with prolonged use of large amounts of kava and is reversible on

  18. Effects of iloprost on bleomycin-induced pulmonary fibrosis in rats compared with methyl-prednisolone

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    Z.A. Aytemur

    2012-11-01

    Full Text Available Objective: Prostacyclin (PGI2 has been shown to inhibit the expression of pro-inflammatory and pro-fibrotic mediators in pulmonary fibrosis. In this study, we aimed to test the preventive effects of intraperitoneally administered iloprost, a stable PGI2 analog, on bleomycin-induced pulmonary fibrosis in rats and to compare the effects of iloprost with the effects of methyl-prednisolone, a traditional therapy. Methods: Rats were randomly allocated into four groups: 1. Saline alone (n = 6; 2. Bleomycin + placebo (n = 7; 3. Bleomycin + methyl-prednisolone (n = 7; 4. Bleomycin + iloprost (n = 7. Fibrotic changes in the lungs were demonstrated by analyzing the cellular composition of bronchoalveolar lavage fluid, histological evaluation and lung hydroxyproline content. Results: Fibrosis was made in the lungs of rats by bleomycin experimentally. Fibrosis scores in the methyl-prednisolone and the iloprost groups were significantly lower than in the placebo group (p < 0.05. Furthermore, the score of the iloprost group was significantly lower than the score of the methyl-prednisolone group. The hydroxyproline content was significantly less in the methyl-prednisolone and the iloprost groups (p < 0.05. In the placebo group, the neutrophil percentage in bronchoalveolar lavage was significantly higher than in the other groups, whereas the macrophage percentage in placebo group was significantly lower (p < 0.05. Conclusion: Iloprost has protective effect on the pulmonary fibrosis induced by bleomycin and it may be more effective in decreasing fibrotic changes than methyl-prednisolone. Resumo: Objetivo: A prostaciclina (PGI2 é conhecida por inibir a expressão de mediadores pró-inflamatórios e pró-fibróticos na fibrose pulmonar. Neste estudo, procurou-se testar os efeitos preventivos do iloprost administrado por via intraperitoneal, um análogo estável do PGI2, na fibrose

  19. Channelopathies

    Science.gov (United States)

    Kim, June-Bum

    2014-01-01

    Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases. PMID:24578711

  20. Diabetes insipidus: Differential diagnosis and management.

    Science.gov (United States)

    Robertson, Gary L

    2016-03-01

    Diabetes insipidus (DI) is a syndrome characterized by the excretion of abnormally large volumes of dilute urine. It can be caused by any of 4 fundamentally different defects that must be distinguished for safe and effective management. They are: (1) pituitary DI, due to inadequate production and secretion of antidiuretic hormone, arginine-vasopressin (AVP); (2) gestational DI due to degradation of AVP by an enzyme made in placenta; (3) primary polydipsia, due to suppression of AVP secretion by excessive fluid intake; and (4) nephrogenic DI due to renal insensitivity to the antidiuretic effect of AVP. This review describes several methods of differential diagnosis, indicates the advantages and disadvantages of each and presents a new approach that is simpler and less costly but just as reliable as the best of the older methods. The various treatments for the different types of DI and recent findings on the genetic basis of the familial forms of DI are also discussed with emphasis on their contributions to improved diagnosis and management. Copyright © 2016 Elsevier Ltd. All rights reserved.