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Sample records for generalized cystic resolution

  1. High Spatial Resolution MRI of Cystic Adventitial Disease of the Iliofemoral Vein Communicating with the Hip Joint

    SciTech Connect

    Michaelides, Michael; Pantziara, Maria Ioannidis, Kleanthis

    2013-05-14

    Venous cystic adventitial disease (CAD) is an extremely rare entity, and so far less than 20 cases have been described in the literature. Herein, we describe the imaging findings of CAD of iliofemoral vein in a 51-year-old woman who presented with leg swelling with special emphasis on high spatial resolution MRI, which demonstrated communication of the cyst with the hip joint. To our knowledge, this is the first description of high spatial resolution MRI findings in venous CAD supporting a new theory about the pathogenesis of venous CAD.

  2. 29 CFR 96.53 - Audit resolution generally.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 29 Labor 1 2010-07-01 2010-07-01 true Audit resolution generally. 96.53 Section 96.53 Labor Office... Resolution § 96.53 Audit resolution generally. The DOL official(s) responsible for audit resolution shall.... The process of audit resolution includes at a minimum an initial determination, an informal...

  3. Cystic Fibrosis

    MedlinePlus

    ... and Diseases > Lung Disease Lookup > Cystic Fibrosis Cystic Fibrosis Cystic Fibrosis (CF) is an inherited disease that ... quality of life has improved. Learn About Cystic Fibrosis Cystic fibrosis is a genetic (inherited) condition that ...

  4. Construction of a general human chromosome jumping library, with application to cystic fibrosis

    SciTech Connect

    Collins, F.S.; Drumm, M.L.; Cole, J.L.; Lockwood, W.K.; Woude, G.F.V.; Iannuzzi, M.C.

    1987-02-27

    In many genetic disorders, the responsible gene and its protein product are unknown. The technique known as reverse genetics, in which chromosomal map positions and genetically linked DNA markers are used to identify and clone such genes, is complicated by the fact that the molecular distances from the closest DNA markers to the gene itself are often too large to traverse by standard cloning techniques. To address this situation, a general human chromosome jumping library was constructed that allows the cloning of DNA sequences approximately 100 kilobases away from any starting point in genomic DNA. As an illustration of its usefulness, this library was searched for a jumping clone, starting at the met oncogene, which is a marker tightly linked to the cystic fibrosis gene that is located on human chromosome 7. Mapping of the new genomic fragment by pulsed field gel electrophoresis confirmed that it resides on chromosome 7 within 240 kilobases downstream of the met gene. The use of chromosome jumping should be applicable to any genetic locus for which a closely linked DNA marker is available.

  5. Chapter Iii: Resolutions of the General Assembly

    NASA Astrophysics Data System (ADS)

    2007-12-01

    The members of the Resolutions Committee 2003-2006 were Christopher J. Corbally (chair, USA), Jocely S. Bell Burnell (UK), Matthew Colless (Australia) Georges Meylan (Switzerland), Silvia Torres-Peimbert (Mexico), Rachel L. Webster (Australia), and Robert Williams (USA).

  6. Complete resolution of a calcifying cystic odontogenic tumor with physiological eruption of a dislocated permanent tooth after marsupialization in a child with a mixed dentition: a case report.

    PubMed

    Masuda, Keiji; Kawano, Shintaro; Yamaza, Haruyoshi; Sakamoto, Taiki; Kiyoshima, Tamotsu; Nakamura, Seiji; Nonaka, Kazuaki

    2015-09-17

    Here, we report the complete resolution of a calcifying cystic odontogenic tumor (CCOT) in the right mandible after marsupialization in an 8-year-old girl with a mixed dentition. Clinical, radiographic, and histopathological findings showed a simple cystic variant of CCOT in the region of the deciduous second molar, with dislocation of the permanent second premolar tooth germ. Initial treatment involved marsupialization, including extraction of the involved deciduous tooth, incision of pathological tissue, and creation of a window in the extraction socket. The crown of the dislocated second premolar was exposed at the base of the cystic cavity after marsupialization. One year and nine months later, complete bone healing and spontaneous eruption of the second premolar were observed, providing evidence of the bone regeneration capacity and tooth germ eruption potential in children. No recurrence was observed after 7 years. The findings from this case suggest that marsupialization can be successfully applied for the treatment of CCOT in children with a mixed dentition.

  7. Non-cystic fibrosis bronchiectasis.

    PubMed

    Al Subie, Haya; Fitzgerald, Dominic A

    2012-05-01

    Non-cystic fibrosis (CF) bronchiectasis is said to be a declining problem in developed countries, although its prevalence in indigenous communities in Australia and New Zealand is among the highest reported in the world. Early childhood pneumonia and underlying conditions such as immunodeficiency and primary ciliary dyskinesia need to be considered in the aetiology. A high-resolution computerised tomography scan is the key investigation in children with a chronic wet cough in whom bronchiectasis is suspected. Regardless of the cause, the treatment of bronchiectasis is centred upon facilitating the clearance of airway secretions and the treatment of pulmonary exacerbations. This review aims to provide general paediatricians with an update on the presenting features, investigation and management of non-cystic fibrosis bronchiectasis. PMID:21040075

  8. A general model for resolution of digital holographic microscopy.

    PubMed

    Wu, Xiupin; Gao, Wanrong

    2015-11-01

    For digital holographic microscopic imaging, the resolution in the reconstructed image is one of the most important parameters. To optimize the lateral resolution, a general model for the resolution of digital holographic microscopy (DHM) is proposed in this work, in which the effects of the sizes of each pixel, total area of the charge coupled device (CCD) and the microscopic objective lens are taken into account. Comparison between our model and others was carried out by calculating the point spread function (PSF) of DHM at different reconstruction distances and with different fill factors. It is shown that the effect of fill factors on the resolution of DHM becomes significant when the reconstruction distance is long. For high resolution DHM imaging the influence of fill factors must be taken into account when estimating the resolution of the reconstructed image. Furthermore, It is also demonstrated that the sidelobe of PSF can be cut effectively choosing appropriate values of the fill factors. Finally, the reconstructions of polyethylene microspheres have been implemented to demonstrate the theoretical analysis. These results obtained are helpful for estimation of the resolution and design of the DHM systems.

  9. Cystic Echinococcosis

    PubMed Central

    Brunetti, Enrico; McCloskey, Cindy

    2015-01-01

    Echinococcosis is one of the 17 neglected tropical diseases (NTDs) recognized by the World Health Organization. The two major species of medical importance are Echinococcus granulosus and Echinococcus multilocularis. E. granulosus affects over 1 million people and is responsible for over $3 billion in expenses every year. In this minireview, we discuss aspects of the epidemiology, clinical manifestations, and diagnosis of cystic echinococcosis or cystic hydatid disease caused by E. granulosus. PMID:26677245

  10. Cystic Echinococcosis.

    PubMed

    Agudelo Higuita, Nelson Iván; Brunetti, Enrico; McCloskey, Cindy

    2016-03-01

    Echinococcosis is one of the 17 neglected tropical diseases (NTDs) recognized by the World Health Organization. The two major species of medical importance are Echinococcus granulosus and Echinococcus multilocularis. E. granulosus affects over 1 million people and is responsible for over $3 billion in expenses every year. In this minireview, we discuss aspects of the epidemiology, clinical manifestations, and diagnosis of cystic echinococcosis or cystic hydatid disease caused by E. granulosus. PMID:26677245

  11. Cystic fibrosis - resources

    MedlinePlus

    Resources - cystic fibrosis ... The following organizations are good resources for information on cystic fibrosis : Cystic Fibrosis Foundation -- www.cff.org March of Dimes -- www.marchofdimes.org/baby/cystic-fibrosis-and- ...

  12. High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease

    PubMed Central

    Beier, David R.

    2016-01-01

    We have previously demonstrated that a locus on proximal Chr 4 modifies disease severity in the juvenile cystic kidney (jck) mouse, a model of polycystic kidney disease (PKD) that carries a mutation of the Nek8 serine-threonine kinase. In this study we used QTL analysis of independently constructed B6.D2 congenic lines to confirm this and showed that this locus has a highly significant effect. We constructed sub-congenic lines to more specifically localize the modifier and have determined it resides in a 3.2 Mb interval containing 28 genes. These include Invs and Anks6, which are both excellent candidates for the modifier as mutations in these genes result in PKD and both genes are known to genetically and physically interact with Nek8. However, examination of strain-specific DNA sequence and kidney expression did not reveal clear differences that might implicate either gene as a modifier of PKD severity. The fact that our high-resolution analysis did not yield an unambiguous result highlights the challenge of establishing the causality of strain-specific variants as genetic modifiers, and suggests that alternative strategies be considered. PMID:27114383

  13. High resolution melting technique for molecular epidemiological studies of cystic echinococcosis: differentiating G1, G3, and G6 genotypes of Echinococcus granulosus sensu lato.

    PubMed

    Rostami, Sima; Talebi, Saeed; Babaei, Zahra; Sharbatkhori, Mitra; Ziaali, Naser; Rostami, Habib; Harandi, Majid Fasihi

    2013-10-01

    Reliable and rapid genotyping of large number of Echinococcus granulosus sensu lato isolates is crucial for understanding the epidemiology and transmission of cystic echinococcosis. We have developed a method for distinguishing and discriminating common genotypes of E. granulosus s.l. (G1, G3, and G6) in Iran. This method is based on polymerase chain reaction coupled with high resolution melting curve (HRM), ramping from 70 to 86 °C with fluorescence data acquisition set at 0.1 °C increments and continuous fluorescence monitoring. Consistency of this technique was assessed by inter- and intra-assays. Assessment of intra- and inter-assay variability showed low and acceptable coefficient of variations ranging from 0.09 to 0.17 %. Two hundred and eighty E. granulosus s.l. isolates from sheep, cattle, and camel were used to evaluate the applicability and accuracy of the method. The isolates were categorized as G1 (93, 94, and 25%), G3 (7, 4, and 4%), and G6 (0, 2, and 71%) for sheep, cattle, and camel, respectively. HRM results were completely compatible with those obtained from sequencing and rostellar hook measurement. This method proved to be a valuable screening tool for large-scale molecular epidemiological studies. PMID:23832641

  14. Cystic Fibrosis

    MedlinePlus

    Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and ...

  15. [Cystic angiomatosis].

    PubMed

    Fernández Jiménez, I; Alvarez Muñoz, V; Peláez Mata, D; Díaz Blanco, M; Galbe Sada, M; Antuña García, M J

    2000-04-01

    A case of cystic angiomatosis is presented in a patient whose clinical sign were the presence of an inguinoescrotal mass due to a retroperitoneal lymphangioma, visceral splenic lesions and diffuse skeletal lesions. This rare entity is discussed and a brief review of the literature is made.

  16. Generalized alopecic and cystic dermatosis in a cat: a counterpart to the hairless mouse phenotype or a unique congenital dermatosis?

    PubMed

    Neuber, Ariane E; Van Den Broek, Adri H M; Rhind, Susan M; Hill, Peter B; Thoday, Keith L

    2006-02-01

    A 2-year-old, male neutered, domestic semi-long-haired cat was presented with a 1.5-year history of progressive, initially nonpruritic alopecia and malodorous greasy exudate affecting the distal extremities, trunk and neck but sparing the head and tail. The extensive alopecia and 'seborrhoea' were associated with severe thickening of the skin and fold formation on the dorsal head and distal extremities as well as the lateral thorax and abdomen. The hair was easily epilated, numerous milia were seen on the ventral abdomen and the caudal and lateral thighs, and mild paronychia was present. Histopathological examination of skin biopsies revealed marked cystic dilation of hair follicles and sebaceous glands with follicular hypoplasia, infundibular hyperkeratosis and variable associated inflammation. Systemic glucocorticoid therapy in combination with topical washes with chlorhexidine and miconazole resulted in a marked improvement and some hair regrowth, but the cat was subsequently lost to follow-up. The dermatosis resembles a number of conditions in other species, but it is not clear whether it is a counterpart to the hairless mutant mouse or is a unique dermatosis.

  17. Resolution of HIV-associated cystic benign lymphoepithelial lesion of the parotid gland in a patient undergoing chemotherapy for non-Hodgkin's lymphoma.

    PubMed

    Albrecht, H; Stellbrink, H J; Greten, H

    1996-01-01

    Cystic benign lymphoepithelial lesion, a previously rare lesion of the parotid gland characterized by multiple cysts accompanied by marked lymphoid hyperplasia, is increasingly reported in patients with human immunodeficiency virus infection. The case of a 59-year-old man without identifiable risk factors for the acquired immunodeficiency syndrome is presented, in whom the development of cystic benign lymphoepithelial lesions led to the diagnosis of the underlying human immunodeficiency virus infection. The lymphoepithelial lesion remained unchanged for 8 years. When chemotherapy was instituted for abdominal non-Hodgkin's lymphoma all cystic lesions resolved completely. This previously undescribed phenomenon strongly supports the concept that the development of the cysts is secondary to the mechanical obstruction of salivary ducts caused by lymphoid hyperplasia and not due to true de novo cyst formation.

  18. Cystic fibrosis from the gastroenterologist's perspective.

    PubMed

    Ooi, Chee Y; Durie, Peter R

    2016-03-01

    Cystic fibrosis is a life-limiting, recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Increased survival outcomes and the multisystem nature of the disease, including the involvement of hepatobiliary and gastrointestinal tracts, now require the need for more extensive knowledge and expertise in cystic fibrosis among gastroenterologists. Manifestations are either a direct consequence of the primary defect in cystic fibrosis or a secondary complication of the disease or therapy. Adult patients with cystic fibrosis also have an increased risk of malignancy in the gastrointestinal and pancreatico-biliary tracts compared with the general population. Novel treatments that target the basic defects in the CFTR protein have emerged, but to date not much is known about their effects on the gastrointestinal and hepatobiliary systems. The introduction of such therapies has provided new opportunities for the application of intestinal endpoints in clinical trials and the understanding of underlying disease mechanisms that affect the gut in cystic fibrosis.

  19. Stochastically established resolution analysis helps to determine empirical tuning parameters in general interpolation schemes

    NASA Astrophysics Data System (ADS)

    Ye, Z.; Chiao, L.

    2013-12-01

    Resolution analysis has been a crucial appraisal procedure in general estimation problems to help with the correct interpretation. However, complete resolution information is usually inaccessible due to the sizeable matrix inversion involved with the construction of the resolution matrix. Furthermore, there are not explicit forward kernels embedded within formulations for popular interpolation algorithms such as the kriging and the minimum curvature gridding schemes. Stochastic simulation has recently been proposed to make resolution evaluation for sizeable inverse problems tractable. We generalize the method of getting resolution information to the popular interpolation schemes. There are usually certain empirically determined tuning parameters involved in these interpolation schemes, for example, the ideal function and radius of influence for fitting the semi-variogram in the kriging method and the relative weighting of the membrane stress term in the minimum curvature gridding scheme. We show that our proposed resolution analysis not only provide the crucial spatial resolution pattern, more importantly, it helps to determine those critical tuning parameters that have been determined empirically and arbitrarily. Keywords: resolution analysis; stochastic simulation; kriging; minimum curvature gridding

  20. Psychosocial impact of cystic fibrosis in adolescence.

    PubMed

    Harrop, Michele

    2007-12-01

    Over 8,000 children, young people and adults in the UK are affected by cystic fibrosis and although no cure exists, comprehensive therapy started early and administered consistently delays disease progression. This article explores three aspects of the psychosocial effects of cystic fibrosis on the adolescent/young adult: the effect on the family, the effect on relationships and adherence to treatment. Much of the early research on the psychosocial impact of cystic fibrosis on the adolescent and the family presented a dismal picture of dysfunction. More recent studies indicate that cystic fibrosis patients generally lead active, age-appropriate social lives, that good information and support can reduce negative effects on families and that treatment regimes continue to cause difficulties for young people. Further research is needed into the psychosocial impact of cystic fibrosis on the increasing numbers of young people and adults with the disease.

  1. What Causes Cystic Fibrosis?

    MedlinePlus

    ... What Causes Cystic Fibrosis? A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes ... and very salty sweat. Research suggests that the CFTR protein also affects the body in other ways. ...

  2. Learning about Cystic Fibrosis

    MedlinePlus

    ... order to digest food. Cystic Fibrosis: A Single Gene Disease Mutations in a single gene - the Cystic ... the defective gene, or correcting the defective protein. Gene Therapy Research Offers Promise of a Cure for ...

  3. Living with Cystic Fibrosis

    MedlinePlus

    ... from the NHLBI on Twitter. Living With Cystic Fibrosis If you or your child has cystic fibrosis (CF), you should learn as much as you ... about CF Care Centers, go to the Cystic Fibrosis Foundation's Care Center Network Web page. It's standard ...

  4. A BGG-Type Resolution for Tensor Modules over General Linear Superalgebra

    NASA Astrophysics Data System (ADS)

    Cheng, Shun-Jen; Kwon, Jae-Hoon; Lam, Ngau

    2008-04-01

    We construct a Bernstein Gelfand Gelfand type resolution in terms of direct sums of Kac modules for the finite-dimensional irreducible tensor representations of the general linear superalgebra. As a consequence it follows that the unique maximal submodule of a corresponding reducible Kac module is generated by its proper singular vector.

  5. Evaluation of Cloud Parameterizations in a High Resolution Atmospheric General Circulation Model Using ARM Data

    SciTech Connect

    Govindasamy, B; Duffy, P

    2002-04-12

    Typical state of the art atmospheric general circulation models used in climate change studies have horizontal resolution of approximately 300 km. As computing power increases, many climate modeling groups are working toward enhancing the resolution of global models. An important issue that arises when resolution of a model is changed is whether cloud and convective parameterizations, which were developed for use at coarser resolutions, will need to be reformulated or re-tuned. We propose to investigate this issue and specifically cloud statistics using ARM data. The data streams produced by highly instrumented sections of Cloud and Radiation Testbeds (CART) of ARM program will provide a significant aid in the evaluation of cloud and convection parameterization in high-resolution models. Recently, we have performed multiyear global-climate simulations at T170 and T239 resolutions, corresponding to grid cell sizes of 0.7{sup 0} and 0.5{sup 0} respectively, using the NCAR Community Climate Model. We have also a performed climate change simulation at T170. On the scales of a T42 grid cell (300 km) and larger, nearly all quantities we examined in T170 simulation agree better with observations in terms of spatial patterns than do results in a comparable simulation at T42. Increasing the resolution to T239 brings significant further improvement. At T239, the high-resolution model grid cells approach the dimensions of the highly instrumented sections of ARM Cloud and Radiation Testbed (CART) sites. We propose to form a cloud climatology using ARM data for its CART sites and evaluate cloud statistics of the NCAR Community Atmosphere Model (CAM) at higher resolutions over those sites using this ARM cloud climatology. We will then modify the physical parameterizations of CAM for better agreement with ARM data. We will work closely with NCAR in modifying the parameters in cloud and convection parameterizations for the high-resolution model. Our proposal to evaluate the cloud

  6. iPAINT: a general approach tailored to image the topology of interfaces with nanometer resolution

    NASA Astrophysics Data System (ADS)

    Aloi, A.; Vilanova, N.; Albertazzi, L.; Voets, I. K.

    2016-04-01

    Understanding interfacial phenomena in soft materials such as wetting, colloidal stability, coalescence, and friction warrants non-invasive imaging with nanometer resolution. Super-resolution microscopy has emerged as an attractive method to visualize nanostructures labeled covalently with fluorescent tags, but this is not amenable to all interfaces. Inspired by PAINT we developed a simple and general strategy to overcome this limitation, which we coin `iPAINT: interface Point Accumulation for Imaging in Nanoscale Topography'. It enables three-dimensional, sub-diffraction imaging of interfaces irrespective of their nature via reversible adsorption of polymer chains end-functionalized with photo-activatable moieties. We visualized model dispersions, emulsions, and foams with ~20 nm and ~3° accuracy demonstrating the general applicability of iPAINT to study solid/liquid, liquid/liquid and liquid/air interfaces. iPAINT thus broadens the scope of super-resolution microscopy paving the way for non-invasive, high-resolution imaging of complex soft materials.Understanding interfacial phenomena in soft materials such as wetting, colloidal stability, coalescence, and friction warrants non-invasive imaging with nanometer resolution. Super-resolution microscopy has emerged as an attractive method to visualize nanostructures labeled covalently with fluorescent tags, but this is not amenable to all interfaces. Inspired by PAINT we developed a simple and general strategy to overcome this limitation, which we coin `iPAINT: interface Point Accumulation for Imaging in Nanoscale Topography'. It enables three-dimensional, sub-diffraction imaging of interfaces irrespective of their nature via reversible adsorption of polymer chains end-functionalized with photo-activatable moieties. We visualized model dispersions, emulsions, and foams with ~20 nm and ~3° accuracy demonstrating the general applicability of iPAINT to study solid/liquid, liquid/liquid and liquid/air interfaces. i

  7. Hurricane Forecasting with the High-resolution NASA Finite-volume General Circulation Model

    NASA Technical Reports Server (NTRS)

    Atlas, R.; Reale, O.; Shen, B.-W.; Lin, S.-J.; Chern, J.-D.; Putman, W.; Lee, T.; Yeh, K.-S.; Bosilovich, M.; Radakovich, J.

    2004-01-01

    A high-resolution finite-volume General Circulation Model (fvGCM), resulting from a development effort of more than ten years, is now being run operationally at the NASA Goddard Space Flight Center and Ames Research Center. The model is based on a finite-volume dynamical core with terrain-following Lagrangian control-volume discretization and performs efficiently on massive parallel architectures. The computational efficiency allows simulations at a resolution of a quarter of a degree, which is double the resolution currently adopted by most global models in operational weather centers. Such fine global resolution brings us closer to overcoming a fundamental barrier in global atmospheric modeling for both weather and climate, because tropical cyclones and even tropical convective clusters can be more realistically represented. In this work, preliminary results of the fvGCM are shown. Fifteen simulations of four Atlantic tropical cyclones in 2002 and 2004 are chosen because of strong and varied difficulties presented to numerical weather forecasting. It is shown that the fvGCM, run at the resolution of a quarter of a degree, can produce very good forecasts of these tropical systems, adequately resolving problems like erratic track, abrupt recurvature, intense extratropical transition, multiple landfall and reintensification, and interaction among vortices.

  8. How Is Cystic Fibrosis Diagnosed?

    MedlinePlus

    ... from the NHLBI on Twitter. How Is Cystic Fibrosis Diagnosed? Doctors diagnose cystic fibrosis (CF) based on ... to see whether the baby has CF. Cystic Fibrosis Carrier Testing People who have one normal CFTR ...

  9. RAISHIN: A High-Resolution Three-Dimensional General Relativistic Magnetohydrodynamics Code

    NASA Technical Reports Server (NTRS)

    Mizuno, Yosuke; Nishikawa, Ken-Ichi; Koide, Shinji; Hardee, Philip; Fishman, Gerald J.

    2006-01-01

    We have developed a new three-dimensional general relativistic magnetohydrodynamic (GRMHD) code, RAISHIN, using a conservative, high resolution shock-capturing scheme. The numerical fluxes are calculated using the Harten, Lax, & van Leer (HLL) approximate Riemann solver scheme. The flux-interpolated, constrained transport scheme is used to maintain a divergence-free magnetic field. In order to examine the numerical accuracy and the numerical efficiency, the code uses four different reconstruction methods: piecewise linear methods with Minmod and MC slope-limiter function, convex essentially non-oscillatory (CENO) method, and piecewise parabolic method (PPM) using multistep TVD Runge-Kutta time advance methods with second and third-order time accuracy. We describe code performance on an extensive set of test problems in both special and general relativity. Our new GRMHD code has proven to be accurate in second order and has successfully passed with all tests performed, including highly relativistic and magnetized cases in both special and general relativity.

  10. Non-cystic fibrosis bronchiectasis.

    PubMed

    McShane, Pamela J; Naureckas, Edward T; Tino, Gregory; Strek, Mary E

    2013-09-15

    There is renewed interest in non-cystic fibrosis bronchiectasis, which is a cause of significant morbidity in adults and can be diagnosed by high-resolution chest computed tomography scan. No longer mainly a complication after pulmonary infection with Mycobacterium tuberculosis, diverse disease processes and mechanisms have been demonstrated to result in the chronic cough, purulent sputum production, and airway dilation that characterize this disease. Improved understanding of the role of mucus stasis in causing bacterial colonization has led to increased emphasis on the use of therapies that enhance airway clearance. Inhalational antibiotics reduce the bacterial burden associated with a worse outcome. Low-dose, chronic macrolide therapy has been shown to decrease exacerbation frequency and airway inflammation. For the first time, a number of therapies for non-cystic fibrosis bronchiectasis are undergoing testing in clinical research trials designed specifically for this population. This concise clinical review focuses on the major etiologies, diagnostic testing, microbiology, and management of patients with adult non-cystic fibrosis bronchiectasis. Systematic evaluation identifies a specific cause in the majority of patients and may affect subsequent treatment. We outline current therapies and review the data that support their use. PMID:23898922

  11. Cystic Lesions of the Mediastinum.

    PubMed

    Vargas, Daniel; Suby-Long, Thomas; Restrepo, Carlos S

    2016-06-01

    Cystic lesions are commonly seen in the mediastinum, and they may arise from virtually any organ. The vast majority of these lesions are benign and result in no symptoms. When large, cysts may produce symptoms related to compression of adjacent structures. The most common mediastinal cysts are pericardial and foregut duplication cysts. Both computed tomography and magnetic resonance are routinely used to evaluate these lesions. Although computed tomography offers superior spatial resolution, magnetic resonance is useful in differentiating cysts that contain proteinaceous material from solid lesions. Occasionally, cysts arise from solid lesions, such as thymoma or teratoma. Although cysts are alike in appearance, location helps narrowing the differential diagnoses.

  12. High resolution kinetic beam schemes in generalized coordinates for ideal quantum gas dynamics

    SciTech Connect

    Shi, Yu-Hsin; Huang, J.C.; Yang, J.Y. . E-mail: yangjy@iam.ntu.edu.tw

    2007-03-20

    A class of high resolution kinetic beam schemes in multiple space dimensions in general coordinates system for the ideal quantum gas is presented for the computation of quantum gas dynamical flows. The kinetic Boltzmann equation approach is adopted and the local equilibrium quantum statistics distribution is assumed. High-order accurate methods using essentially non-oscillatory interpolation concept are constructed. Computations of shock wave diffraction by a circular cylinder in an ideal quantum gas are conducted to illustrate the present method. The present method provides a viable means to explore various practical ideal quantum gas flows.

  13. Generalized recovery algorithm for 3D super-resolution microscopy using rotating point spread functions

    NASA Astrophysics Data System (ADS)

    Shuang, Bo; Wang, Wenxiao; Shen, Hao; Tauzin, Lawrence J.; Flatebo, Charlotte; Chen, Jianbo; Moringo, Nicholas A.; Bishop, Logan D. C.; Kelly, Kevin F.; Landes, Christy F.

    2016-08-01

    Super-resolution microscopy with phase masks is a promising technique for 3D imaging and tracking. Due to the complexity of the resultant point spread functions, generalized recovery algorithms are still missing. We introduce a 3D super-resolution recovery algorithm that works for a variety of phase masks generating 3D point spread functions. A fast deconvolution process generates initial guesses, which are further refined by least squares fitting. Overfitting is suppressed using a machine learning determined threshold. Preliminary results on experimental data show that our algorithm can be used to super-localize 3D adsorption events within a porous polymer film and is useful for evaluating potential phase masks. Finally, we demonstrate that parallel computation on graphics processing units can reduce the processing time required for 3D recovery. Simulations reveal that, through desktop parallelization, the ultimate limit of real-time processing is possible. Our program is the first open source recovery program for generalized 3D recovery using rotating point spread functions.

  14. Generalized recovery algorithm for 3D super-resolution microscopy using rotating point spread functions

    PubMed Central

    Shuang, Bo; Wang, Wenxiao; Shen, Hao; Tauzin, Lawrence J.; Flatebo, Charlotte; Chen, Jianbo; Moringo, Nicholas A.; Bishop, Logan D. C.; Kelly, Kevin F.; Landes, Christy F.

    2016-01-01

    Super-resolution microscopy with phase masks is a promising technique for 3D imaging and tracking. Due to the complexity of the resultant point spread functions, generalized recovery algorithms are still missing. We introduce a 3D super-resolution recovery algorithm that works for a variety of phase masks generating 3D point spread functions. A fast deconvolution process generates initial guesses, which are further refined by least squares fitting. Overfitting is suppressed using a machine learning determined threshold. Preliminary results on experimental data show that our algorithm can be used to super-localize 3D adsorption events within a porous polymer film and is useful for evaluating potential phase masks. Finally, we demonstrate that parallel computation on graphics processing units can reduce the processing time required for 3D recovery. Simulations reveal that, through desktop parallelization, the ultimate limit of real-time processing is possible. Our program is the first open source recovery program for generalized 3D recovery using rotating point spread functions. PMID:27488312

  15. Generalized recovery algorithm for 3D super-resolution microscopy using rotating point spread functions.

    PubMed

    Shuang, Bo; Wang, Wenxiao; Shen, Hao; Tauzin, Lawrence J; Flatebo, Charlotte; Chen, Jianbo; Moringo, Nicholas A; Bishop, Logan D C; Kelly, Kevin F; Landes, Christy F

    2016-01-01

    Super-resolution microscopy with phase masks is a promising technique for 3D imaging and tracking. Due to the complexity of the resultant point spread functions, generalized recovery algorithms are still missing. We introduce a 3D super-resolution recovery algorithm that works for a variety of phase masks generating 3D point spread functions. A fast deconvolution process generates initial guesses, which are further refined by least squares fitting. Overfitting is suppressed using a machine learning determined threshold. Preliminary results on experimental data show that our algorithm can be used to super-localize 3D adsorption events within a porous polymer film and is useful for evaluating potential phase masks. Finally, we demonstrate that parallel computation on graphics processing units can reduce the processing time required for 3D recovery. Simulations reveal that, through desktop parallelization, the ultimate limit of real-time processing is possible. Our program is the first open source recovery program for generalized 3D recovery using rotating point spread functions.

  16. Generalized recovery algorithm for 3D super-resolution microscopy using rotating point spread functions.

    PubMed

    Shuang, Bo; Wang, Wenxiao; Shen, Hao; Tauzin, Lawrence J; Flatebo, Charlotte; Chen, Jianbo; Moringo, Nicholas A; Bishop, Logan D C; Kelly, Kevin F; Landes, Christy F

    2016-01-01

    Super-resolution microscopy with phase masks is a promising technique for 3D imaging and tracking. Due to the complexity of the resultant point spread functions, generalized recovery algorithms are still missing. We introduce a 3D super-resolution recovery algorithm that works for a variety of phase masks generating 3D point spread functions. A fast deconvolution process generates initial guesses, which are further refined by least squares fitting. Overfitting is suppressed using a machine learning determined threshold. Preliminary results on experimental data show that our algorithm can be used to super-localize 3D adsorption events within a porous polymer film and is useful for evaluating potential phase masks. Finally, we demonstrate that parallel computation on graphics processing units can reduce the processing time required for 3D recovery. Simulations reveal that, through desktop parallelization, the ultimate limit of real-time processing is possible. Our program is the first open source recovery program for generalized 3D recovery using rotating point spread functions. PMID:27488312

  17. Cystic Adenomatoid Odontogenic Tumor

    PubMed Central

    Grover, Sonal; Rahim, Ahmed Mujib Bangalore; Parakkat, Nithin Kavassery; Kapoor, Shekhar; Mittal, Kumud; Sharma, Bhushan; Shivappa, Anil Bangalore

    2015-01-01

    Adenomatoid Odontogenic Tumor (AOT) is a well-established benign epithelial lesion of odontogenic origin. Rightfully called “the master of disguise,” this lesion has been known for its varied clinical and histoarchitectural patterns. Not only does AOT predominantly present radiologically as a unilocular cystic lesion enclosing the unerupted tooth (which is commonly mistaken as a dentigerous cyst) but the lesion also presents rarely with a cystic component histopathologically. We present one such unusual case of cystic AOT associated with an impacted canine, mimicking a dentigerous cyst. The present case aims to highlight the difference between cystic AOT and dentigerous cyst radiographically. The exact histogenesis of AOT and its variants still remains obscure. An attempt has been made to hypothesize the new school of thought regarding the origin of AOT. PMID:26579317

  18. Diabetes in cystic fibrosis.

    PubMed

    Bridges, Nicola

    2013-05-01

    Cystic fibrosis related diabetes (CFRD) is a common complication of cystic fibrosis, caused by a fall in insulin secretion with age in individuals with pancreatic insufficiency. CFRD is associated with worse clinical status and increased mortality. Treatment of CFRD with insulin results in sustained improvements in lung function and nutrition. While clinical experience with insulin treatment in CF has increased, the selection of who to treat and glycaemic targets remain unclear.

  19. Cystic Fibrosis Sinusitis.

    PubMed

    Le, Christopher; McCrary, Hilary C; Chang, Eugene

    2016-01-01

    Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance regulator gene(CFTR) resulting in impaired ion transport. Nearly all people with CF will develop chronic rhino-sinusitis (CRS) and present with the characteristic viscous mucus, impaired mucociliary clearance and chronic inflammation/infection of the sinonasal cavity. While some individuals with CF can appear relatively asymptomatic in terms of their sinus disease, commonly reported symptoms include anosmia, headache, facial pain, nasal obstruction, chronic congestion and nasal discharge. Nasal endoscopy typically reveals mucosal edema, purulent discharge and nasal polyposis. Computed tomography (CT) imaging classically demonstrates the distinguishing findings of sinus hypoplasia or aplasia with generalized opacification, medial bulging of the lateral sinonasal sidewall and a demineralized uncinate process. Current treatment for CF sinusitis includes the use of hypertonic saline, topical and systemic steroids, antibiotics and endoscopic surgery. Research investigating novel therapies designed at targeting the primary defect of CF is showing promise for reversal of CF sinus disease, in addition to potential for disease prevention. PMID:27466844

  20. Pancreatic Cystic Neoplasms

    PubMed Central

    Limaiem, Faten; Khalfallah, Tahar; Farhat, Leila Ben; Bouraoui, Saâdia; Lahmar, Ahlem; Mzabi, Sabeh

    2014-01-01

    Background: Cystic neoplasms of the pancreas are rare and constitute approximately 0.5% of all pancreatic neoplasms. Aims: The study was to describe clinicopathological features of pancreatic cystic tumors. Patients and Methods: In our retrospective study, we reviewed 10 cases of pancreatic cystic neoplasms that were diagnosed at the pathology department of Mongi Slim hospital over a 14-year period (2000-2013). We adopted the latest World Health Organization (WHO) classification (2010) in grouping all tumors. Results: There were one male and nine female patients (sex ratio M/F = 1:9) aged between 21 and 68 years (mean = 37.5 years). The most common clinical presentation was epigastric and abdominal pain (n = 6) followed by vomiting (n = 3). Abdominal computed tomography (CT) scan disclosed a cystic lesion of the pancreas ranging in size between 2 and 10 cm (mean = 6.75 cm). All patients underwent surgical treatment. Histopathological examination of the surgical specimen established the diagnosis of solid pseudopapillary neoplasm (n = 2), serous cystic neoplasm (n = 2), mucinous cystadenoma (n = 4), mucinous cystadenocarcinoma (n = 1), and intraductal papillary mucinous neoplasm with invasive carcinoma (n = 1). Conclusion: Better understanding of pancreatic cystic neoplasms is essential for clinicians to make accurate diagnosis and to provide the best management for patients. PMID:25210676

  1. Cystic Fibrosis (CF) Respiratory Screen: Sputum

    MedlinePlus

    ... Cystic Fibrosis (CF) Chloride Sweat Test Lungs and Respiratory System Cystic Fibrosis: Diet and Nutrition Cystic Fibrosis Cystic Fibrosis: Diet and Nutrition Lungs and Respiratory System Contact Us Print Resources Send to a friend ...

  2. Venus atmosphere simulated by a high-resolution general circulation model

    NASA Astrophysics Data System (ADS)

    Sugimoto, Norihiko

    2016-07-01

    An atmospheric general circulation model (AGCM) for Venus on the basis of AFES (AGCM For the Earth Simulator) have been developed (e.g., Sugimoto et al., 2014a) and a very high-resolution simulation is performed. The highest resolution of the model is T319L120; 960 times 480 horizontal grids (grid intervals are about 40 km) with 120 vertical layers (layer intervals are about 1 km). In the model, the atmosphere is dry and forced by the solar heating with the diurnal and semi-diurnal components. The infrared radiative process is simplified by adopting Newtonian cooling approximation. The temperature is relaxed to a prescribed horizontally uniform temperature distribution, in which a layer with almost neutral static stability observed in the Venus atmosphere presents. A fast zonal wind in a solid-body rotation is given as the initial state. Starting from this idealized superrotation, the model atmosphere reaches a quasi-equilibrium state within 1 Earth year and this state is stably maintained for more than 10 Earth years. The zonal-mean zonal flow with weak midlatitude jets has almost constant velocity of 120 m/s in latitudes between 45°S and 45°N at the cloud top levels, which agrees very well with observations. In the cloud layer, baroclinic waves develop continuously at midlatitudes and generate Rossby-type waves at the cloud top (Sugimoto et al., 2014b). At the polar region, warm polar vortex zonally surrounded by a cold latitude band (cold collar) is well reproduced (Ando et al., 2016). As for horizontal kinetic energy spectra, divergent component is broadly (k>10) larger than rotational component compared with that on Earth (Kashimura et al., in preparation). Finally, recent results for thermal tides and small-scale waves will be shown in the presentation. Sugimoto, N. et al. (2014a), Baroclinic modes in the Venus atmosphere simulated by GCM, Journal of Geophysical Research: Planets, Vol. 119, p1950-1968. Sugimoto, N. et al. (2014b), Waves in a Venus general

  3. Martian atmospheric gravity waves simulated by a high-resolution general circulation model

    NASA Astrophysics Data System (ADS)

    Kuroda, Takeshi; Yiǧit, Erdal; Medvedev, Alexander S.; Hartogh, Paul

    2016-07-01

    Gravity waves (GWs) significantly affect temperature and wind fields in the Martian middle and upper atmosphere. They are also one of the observational targets of the MAVEN mission. We report on the first simulations with a high-resolution general circulation model (GCM) and present a global distributions of small-scale GWs in the Martian atmosphere. The simulated GW-induced temperature variances are in a good agreement with available radio occultation data in the lower atmosphere between 10 and 30 km. For the northern winter solstice, the model reveals a latitudinal asymmetry with stronger wave generation in the winter hemisphere and two distinctive sources of GWs: mountainous regions and the meandering winter polar jet. Orographic GWs are filtered upon propagating upward, and the mesosphere is primarily dominated by harmonics with faster horizontal phase velocities. Wave fluxes are directed mainly against the local wind. GW dissipation in the upper mesosphere generates a body force per unit mass of tens of m s^{-1} per Martian solar day (sol^{-1}), which tends to close the simulated jets. The results represent a realistic surrogate for missing observations, which can be used for constraining GW parameterizations and validating GCMs.

  4. Acquired cystic kidney disease.

    PubMed

    Levine, E

    1996-09-01

    ACKD is characterized by the development of many fluid-filled renal cysts and sometimes neoplasms in the kidneys of individuals with chronic renal failure but without a history of hereditary cystic disease. The condition is seen mainly in dialysis patients, but often begins in patients with ESRD before dialysis is started. Most patients with ACKD are asymptomatic, but the disorder may be associated with such serious complications as retroperitoneal hemorrhage and metastatic renal cell carcinoma. The diagnosis of ACKD and its complications is best achieved by CT scanning, although US and MR imaging may be useful in evaluation, particularly in patients not treated with dialysis. Cyst hemorrhage is common in ACKD and may cause flank pain and hematuria. Hemorrhagic cysts may be recognized by their CT scan, sonographic, or MR imaging features. Hemorrhagic cysts may rupture into the perinephric space causing large perinephric hematomas. These can usually be treated-conservatively. Patients with ACKD, particularly those treated with dialysis, have an increased risk of renal cell carcinoma. Renal cell carcinoma may also develop in the native kidneys of renal transplant recipients with good graft function many years after transplantation. Annual imaging of the native kidneys of all dialysis patients or of transplant recipients for the development of carcinoma is not justified, however, because it has not been shown to have a significant effect on patient outcome. Screening may, however, be useful in selected dialysis patients with good general medical condition and who have known risk factors for renal cell carcinoma including prolonged dialysis, large kidneys, ACKD, and male gender. Screening of the native kidneys of transplant recipients may be performed when they are referred for US evaluation of the renal allograft.

  5. [Atypical intraperitoneal cystic masses].

    PubMed

    Domínguez-Pérez, S T; Baeza-Herrera, C; Villalobos-Castillejos, A; González-Mateos, T; Aguilar-Venegas, M

    2010-01-01

    Omental, mesenteric and retroperitoneal cystic masses are very rare in pediatric population. They usually present as asymptomatic abdominal tumors and only occasionally a preoperative diagnosis is made. We presented 4 cases presented to our hospital during a 2-year period. All patients were male with an age ranged from 5 months to 7 years. Three patients had previous diagnosis of cystic mass by abdominal ultrasound. Three patients presented with acute abdomen and one patient with bowel obstruction. All patients underwent successful resection of the mass with no perioperative mortality.

  6. The Pseudomonas aeruginosa generalized transducing phage phiPA3 is a new member of the phiKZ-like group of 'jumbo' phages, and infects model laboratory strains and clinical isolates from cystic fibrosis patients.

    PubMed

    Monson, Rita; Foulds, Ian; Foweraker, Juliet; Welch, Martin; Salmond, George P C

    2011-03-01

    Pseudomonas aeruginosa is an important pathogen in cystic fibrosis patients, and a model organism for the study of nosocomially acquired infections, biofilms and intrinsic multidrug resistance. In this study we characterize ϕPA3, a new generalized transducing bacteriophage for P. aeruginosa. ϕPA3 transduced chromosomal mutations between PAO1 strains, and infected multiple P. aeruginosa clinical isolates as well as the P. aeruginosa model laboratory strains PAK and PA14. Electron microscopy imaging was used to classify ϕPA3 in the order Caudovirales and the family Myoviridae. The genome of ϕPA3 was sequenced and found to contain 309,208 bp, the second-largest bacteriophage currently deposited in GenBank. The genome contains 378 ORFs and five tRNAs. Many ORF products in the ϕPA3 genome are similar to proteins encoded by P. aeruginosa phage ϕKZ and Pseudomonas chlororaphis phage 201ϕ2-1, and so ϕPA3 was classified genetically as a member of the ϕKZ-like group of phages. This is the first report of a member of this group of phages acting as a generalized transducer. Given its wide host range, high transduction efficiency and large genome size, the 'jumbo' phage ϕPA3 could be a powerful tool in functional genomic analysis of diverse P. aeruginosa strains of fundamental and clinical importance.

  7. Cystic Fibrosis: Brazilian ENT Experience

    PubMed Central

    Sih, Tania; Godinho, Ricardo; Franco, Leticia Paiva; Piltcher, Otávio

    2012-01-01

    Most published studies about Cystic Fibrosis (CF) are European or North American. There are still few publications about the characteristics of fibrocystic populations in developing countries. The incidence of cystic fibrosis (CF) in Brazil varies among different regions (1 : 10,000 in Minas Gerais, 1 : 9,500 in Paraná, 1 : 8,700 in Santa Catarina, and 1 : 1600 in Rio Grande do Sul). The prevalence of the DF508 mutation also varies according to population: 33% in Sao Paulo, 49% in Rio Grande do Sul, 27% in Santa Catarina, and 52% in Minas Gerais. Cough and nasal obstruction are the most common symptoms. The variation in nasal polyposis prevalence may be explained by population genotypic characteristics in a country that spans a continent. Findings on nasal endoscopy and computed tomography (CT) have better correlation than do this information compared with surgical and clinical history. Microbiologic studies suggest a high level of early contamination of the airways. Sensorineural hearing loss (SNHL) occurs in these patients as a result of ototoxic antibiotics. The data compiled in this paper is useful, but also lead to the general agreement that more research would be welcome due to the unique characteristics of this country. PMID:22611403

  8. Congenital cystic choristoma mimicking cervical lymphangioma.

    PubMed

    Moon, Suk-Bae; Park, Kwi-Won; Yun, Woong-Jae; Patten, Phillip P; Jung, Sung-Eun

    2008-09-01

    Choristoma is a tissue or mass with a normal histology at an abnormal location, and cystic choristoma has rarely been reported in the head and neck region. Cervical cystic masses in neonates are usually diagnosed as cystic lymphangioma. The authors present a case of a congenital laterocervical cystic mass that appeared to be lymphangioma, but which turned out to be a cystic choristoma.

  9. Diffuse Cystic Lung Diseases: Diagnostic Considerations.

    PubMed

    Xu, Kai-Feng; Feng, Ruie; Cui, Han; Tian, Xinlun; Wang, Hanping; Zhao, Jing; Huang, Hui; Zhang, Weihong; Lo, Bee Hong

    2016-06-01

    Diffuse cystic lung disease (DCLD) is a group of heterogeneous diseases that present as diffuse cystic changes in the lung on computed tomography of the chest. Most DCLD diseases are rare, although they might resemble common diseases such as emphysema and bronchiectasis. Main causes of DCLD include lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, pulmonary Langerhans cell histiocytosis, lymphoid interstitial pneumonia, amyloidosis, light-chain deposition disease, Sjögren syndrome, and primary or metastatic neoplasm. We discuss clinical factors that are helpful in the differential diagnosis of DCLDsuch as sex and age, symptoms and signs, extrapulmonary presentations, cigarette smoking, and family history. Investigations for DCLD include high-resolution computed tomography, biochemical and histopathological studies, genetic tests, pulmonary function tests, and bronchoscopic and video-assisted thoracoscopic biopsies. A proposed diagnostic algorithm would enhance ease of diagnosing most cases of DCLD. PMID:27231867

  10. A Variable Resolution Stretched Grid General Circulation Model: Regional Climate Simulation

    NASA Technical Reports Server (NTRS)

    Fox-Rabinovitz, Michael S.; Takacs, Lawrence L.; Govindaraju, Ravi C.; Suarez, Max J.

    2000-01-01

    The development of and results obtained with a variable resolution stretched-grid GCM for the regional climate simulation mode, are presented. A global variable resolution stretched- grid used in the study has enhanced horizontal resolution over the U.S. as the area of interest The stretched-grid approach is an ideal tool for representing regional to global scale interaction& It is an alternative to the widely used nested grid approach introduced over a decade ago as a pioneering step in regional climate modeling. The major results of the study are presented for the successful stretched-grid GCM simulation of the anomalous climate event of the 1988 U.S. summer drought- The straightforward (with no updates) two month simulation is performed with 60 km regional resolution- The major drought fields, patterns and characteristics such as the time averaged 500 hPa heights precipitation and the low level jet over the drought area. appear to be close to the verifying analyses for the stretched-grid simulation- In other words, the stretched-grid GCM provides an efficient down-scaling over the area of interest with enhanced horizontal resolution. It is also shown that the GCM skill is sustained throughout the simulation extended to one year. The developed and tested in a simulation mode stretched-grid GCM is a viable tool for regional and subregional climate studies and applications.

  11. Modeling of Arctic Storms with a Variable High-Resolution General Circulation Model

    SciTech Connect

    Taylor, Mark A.; Roesler, Erika Louise; Bosler, Peter Andrew

    2015-08-01

    The Department of Energy’s (DOE) Biological and Environmental Research project, “Water Cycle and Climate Extremes Modeling” is improving our understanding and modeling of regional details of the Earth’s water cycle. Sandia is using high resolution model behavior to investigate storms in the Arctic.

  12. Cervicothoracic cystic dysraphism.

    PubMed

    Valeur, Natalie S; Iyer, Ramesh S; Ishak, Gisele E

    2016-09-01

    Cystic dysraphism of the cervical and upper thoracic spine is very rare. It differs from the much more common lumbosacral dysraphism in appearance and structure, and usually portends a better prognosis due to lack of functional neurological tissue in the dysraphic sac and absent or less severe intracranial anomalies. There is ambiguity in the literature regarding terminology because of the paucity of cases. We present cases of the most common type of cervicothoracic cystic dysraphism and emphasize differences from lumbosacral myelomeningocele. Patient outcome depends on the presence of associated anomalies and whether complete surgical resection is performed. Imaging plays a critical role in surgical planning, screening the central nervous system for additional anomalies, and in the postoperative setting for evaluation of retethering. PMID:27147079

  13. Cystic pulmonary hydatidosis

    PubMed Central

    Sarkar, Malay; Pathania, Rajnish; Jhobta, Anupam; Thakur, Babu Ram; Chopra, Rajesh

    2016-01-01

    Cystic echinococcosis (CE) is a zoonotic parasitic disease caused by the larval stages of the cestode Echinococcus granulosus. Worldwide, pulmonary hydatid cyst is a significant problem medically, socially, and economically. Surgery is the definitive therapy of pulmonary hydatidosis. Benzimidazoles may be considered in patients with a surgical contraindication. This review will focus on pathogenesis, lifecycle, clinical features, and management of pulmonary hydatid disease. PMID:27051107

  14. Molecular Diagnosis of Cystic Fibrosis.

    PubMed

    Deignan, Joshua L; Grody, Wayne W

    2016-01-01

    This unit describes a recommended approach to identifying causal genetic variants in an individual suspected of having cystic fibrosis. An introduction to the genetics and clinical presentation of cystic fibrosis is initially presented, followed by a description of the two main strategies used in the molecular diagnosis of cystic fibrosis: (1) an initial targeted variant panel used to detect only the most common cystic fibrosis-causing variants in the CFTR gene, and (2) sequencing of the entire coding region of the CFTR gene to detect additional rare causal CFTR variants. Finally, the unit concludes with a discussion regarding the analytic and clinical validity of these approaches.

  15. Overview of the clinical problem: facts and current issues of mucinous cystic neoplasms of the pancreas.

    PubMed

    Jeurnink, S M; Vleggaar, F P; Siersema, P D

    2008-11-01

    Pancreatic cystic lesions are uncommon and consist of pseudocysts, congenital cysts and cystic neoplasms including mucinous cystic neoplasms, intraductal papillary mucinous neoplasms and serous cystic neoplasms. Mucinous cystic neoplasms are large septated cysts without connection to the ductal system, characterised by the presence of thick-walled ovarian-type stroma and mucin. They occur predominantly in women and often are malignant. Therefore, surgical resection is recommended. Intraductal papillary mucinous neoplasms are neoplasms with tall, columnar, mucin-containing epithelium involving the main pancreatic ducts or major side branches. Intraductal papillary mucinous neoplasms occur in men and women in their 60s and 70s and may differentiate into malignant neoplasms. Therefore, surgical resection is mandatory. Serous cystic neoplasms appear as multiple cysts lined with cubic flat epithelium containing glycogen-rich cells with clear cytoplasm. They mainly occur in women in their 50s and are generally benign. Therefore, a conservative approach is recommended. As both mucinous cystic neoplasm and intraductal papillary mucinous neoplasms have a high malignant potential, it is important to differentiate between the various pancreatic cystic lesions. Several imaging techniques and tumour markers have been evaluated. Nonetheless, definitive guidelines to differentiate between serous cystic neoplasms, mucinous cystic neoplasms and intraductal papillary mucinous neoplasms are still poorly defined. A number of management issues regarding these neoplasms are still under debate, for example which imaging technique to use, differentiation between malignant or benign lesions and the preferred treatment modality for each pancreatic cystic neoplasm. Further research may lead to a definitive guideline for the diagnosis and treatment of mucinous cystic neoplasms, intraductal papillary mucinous neoplasms and serous cystic neoplasms. PMID:18499541

  16. Current perspectives on pancreatic serous cystic neoplasms: Diagnosis, management and beyond

    PubMed Central

    Zhang, Xiao-Peng; Yu, Zhong-Xun; Zhao, Yu-Pei; Dai, Meng-Hua

    2016-01-01

    Pancreatic cystic neoplasms have been increasingly recognized recently. Comprising about 16% of all resected pancreatic cystic neoplasms, serous cystic neoplasms are uncommon benign lesions that are usually asymptomatic and found incidentally. Despite overall low risk of malignancy, these pancreatic cysts still generate anxiety, leading to intensive medical investigations with considerable financial cost to health care systems. This review discusses the general background of serous cystic neoplasms, including epidemiology and clinical characteristics, and provides an updated overview of diagnostic approaches based on clinical features, relevant imaging studies and new findings that are being discovered pertaining to diagnostic evaluation. We also concisely discuss and propose management strategies for better quality of life. PMID:27022447

  17. Stride Search: a general algorithm for storm detection in high-resolution climate data

    NASA Astrophysics Data System (ADS)

    Bosler, Peter A.; Roesler, Erika L.; Taylor, Mark A.; Mundt, Miranda R.

    2016-04-01

    This article discusses the problem of identifying extreme climate events such as intense storms within large climate data sets. The basic storm detection algorithm is reviewed, which splits the problem into two parts: a spatial search followed by a temporal correlation problem. Two specific implementations of the spatial search algorithm are compared: the commonly used grid point search algorithm is reviewed, and a new algorithm called Stride Search is introduced. The Stride Search algorithm is defined independently of the spatial discretization associated with a particular data set. Results from the two algorithms are compared for the application of tropical cyclone detection, and shown to produce similar results for the same set of storm identification criteria. Differences between the two algorithms arise for some storms due to their different definition of search regions in physical space. The physical space associated with each Stride Search region is constant, regardless of data resolution or latitude, and Stride Search is therefore capable of searching all regions of the globe in the same manner. Stride Search's ability to search high latitudes is demonstrated for the case of polar low detection. Wall clock time required for Stride Search is shown to be smaller than a grid point search of the same data, and the relative speed up associated with Stride Search increases as resolution increases.

  18. Cystic Fibrosis Therapeutics

    PubMed Central

    Ramsey, Bonnie W.

    2013-01-01

    A great deal of excitement and hope has followed the successful trials and US Food and Drug Administration approval of the drug ivacaftor (Kalydeco), the first therapy available that targets the underlying defect that causes cystic fibrosis (CF). Although this drug has currently demonstrated a clinical benefit for a small minority of the CF population, the developmental pathway established by ivacaftor paves the way for other CF transmembrane conductance regulator (CFTR) modulators that may benefit many more patients. In addition to investigating CFTR modulators, researchers are actively developing numerous other innovative CF therapies. In this review, we use the catalog of treatments currently under evaluation with the support of the Cystic Fibrosis Foundation, known as the Cystic Fibrosis Foundation Therapeutics Pipeline, as a platform to discuss the variety of candidate treatments for CF lung disease that promise to improve CF care. Many of these approaches target the individual components of the relentless cycle of airway obstruction, inflammation, and infection characteristic of lung disease in CF, whereas others are aimed directly at the gene defect, or the resulting dysfunctional protein, that instigates this cycle. We discuss how new findings from the laboratory have informed not only the development of novel therapeutics, but also the rationales for their use and the outcomes used to measure their effects. By reviewing the breadth of candidate treatments currently in development, as well as the recent progress in CF therapies reflected by the evolution of the therapeutics pipeline over the past few years, we hope to build upon the optimism and anticipation generated by the recent success of Kalydeco. PMID:23276843

  19. [Cystic tumors of the pancreas - - our experience with diagnostics].

    PubMed

    Krechler, T; Ulrych, J; Dvořák, M; Hoskovec, D; Macášek, J; Švestka, T; Hořejš, J

    2013-07-01

    Number of newly diagnosed cystic pancreatic tumors is permanently increasing. This fact is primarily related to the development of new diagnostic methods. The main representative ones are: serous cystadenoma, mucinous cystic neoplasm, intraductal papillary mucinous neoplasm and solid pseudopapillar tumor. Because of the malignant potential of these lesions, proper indication of surgical treatment is extremely important. The article highlights and describes our experience in diagnostics and therapy of cystic pancreatic tumors diagnosed in the General Teaching Hospital Prague in the period: 1/ 2008- 12/ 2012. All patients were investigated by computerised tomography and endoscopic ultrasound with fine -  needle aspiration biopsy. Thirty seven patients in total were diagnosed with cystic pancreatic tumors: 19 with serous cystadenoma, 5 with mucinous cystic neoplasm, 5 with mucinous cystadenocarcinoma, 5 with intraductal papillary mucinous neoplasm and 3 with solid pseudopapillar tumor. In 14 cases patients were indicated for surgery, in 1 case signs of malignant transformation were found. Determination of the optimal strategy for diagnostic and therapeutic procedures in patients with cystic pancreatic tumors requires the dia-gnosis, treatment and followup observation in adequately equiped specialized centers. PMID:23909261

  20. Retroperitoneal cystic lymphangioma.

    PubMed

    Nuzzo, G; Lemmo, G; Marrocco-Trischitta, M M; Boldrini, G; Giovannini, I

    1996-03-01

    Two cases of retroperitoneal cystic lymphangioma (CL) are presented; the current literature on this rare, benign neoplasm of the lymphatic system is reviewed. This tumor consists of various numbers of cyst-like cavities filled with a serous, serosanguineous or chylous fluid. The histogenesis of CL is still uncertain. Most commonly CL occurs in the neck and in the axillary region, whereas it is rare in the retroperitoneum. Although retroperitoneal CL is a benign lesion, it may cause significant morbidity due to its large size, and its often invasive character with a strong tendency to secondary infection. The treatment of choice is surgical excision.

  1. Fetal MRI as Complementary Study of Congenital Cystic Adenomatoid Malformation During Pregnancy: A Single Case Report

    PubMed Central

    Miranda-Paanakker, Alberto; Gomez-Leal, Paloma; Navarro-Sanchez, Patricia; Bueno-Crespo, Andres; Martinez-Cendan, Juan Pedro; Remezal-Solano, Manuel

    2016-01-01

    Fetal lung masses are rare findings in prenatal ultrasound scanning in general population, of which congenital cystic adenomatoid malformation is the most commonly diagnosed type. This paper reports a single case of congenital cystic adenomatoid malformation detected at our hospital and the subsequent clinical follow-up using ultrasound scanning and fetal magnetic resonance imaging. PMID:27186452

  2. [Retroperitoneal cystic lymphangioma].

    PubMed

    Waisberg, J; Pezzolo, S; Henrique, A C; Kerr, L M; Speranzini, M B

    1999-01-01

    The lymphangioma is a rare disease, more frequently reported in children and just occasionally in the adult patient. The lymphangioma is considered a benign neoplasm of embryonic origin of the lymphatic vessels. Its habitual location is in the cervical and axillary area; it is rarely found in the abdominal cavity and exceptionally in the retroperitonio. In this latter location, the lesion habitually is asymptomatic. The clinical diagnosis of the retroperitoneal cystic lymphangioma is not often due to its rarity and the absence of clinical expression. The size of the lesion is more important than its location to the symptomatology development. The findings of the abdominal ultrasonography and computerized tomography of the abdomen usually show a cystic lesion and its location. The treatment is surgical and it consists of the resection of the cyst or group of cysts once the liquid accumulation in its interior may be responsible for the development of some important complications of this disease. The cure is obtained when the lesion is completely resected also with the resection of eventual adhesive structures. The relapse may take place when the resection is incomplete. A case of retroperitoneal lymphangioma in a female adult patient as incidental finding of abdominal ultra-sonography is described. It is discussed the clinical picture, the radiologic diagnosis, the treatment and the prognostic of this unusual disease.

  3. Different manifestations of calcifying cystic odontogenic tumor.

    PubMed

    Utumi, Estevam Rubens; Pedron, Irineu Gregnanin; da Silva, Leopoldo Penteado Nucci; Machado, Gustavo Grothe; Rocha, André Caroli

    2012-01-01

    The calcifying cystic odontogenic tumor normally presents as a painless, slow-growing mass, involving both maxilla and mandible, primarily the anterior segment (incisor/canine area). It generally affects young adults in the third to fourth decades, with no gender predilection. Computerized tomography images revealed important characteristics that were not detected by panoramic radiography, such as fenestration, calcification and tooth-like structures. The typical microscopic feature of this lesion is the presence of variable amounts of aberrant epithelial cells, without nuclei, which are named "ghost cells". In addition, dysplastic dentine can be found and occasionally the cyst can be associated with an area of dental hard tissue formation resembling an odontoma. The treatment for calcifying cystic odontogenic tumor involves simple enucleation and curettage. The purpose of this article is to present two different manifestation of calcifying cystic odontogenic tumor in which computerized tomography, associated to clinical features, served as an important tool for diagnosis, adequate surgical planning and follow-up of patients.

  4. Practice nurse involvement in general practice clinical care: policy and funding issues need resolution.

    PubMed

    Afzali, Hossein Haji Ali; Karnon, Jonathan; Beilby, Justin; Gray, Jodi; Holton, Christine; Banham, David

    2014-06-01

    In Australia, primary care-based funding initiatives have been implemented to encourage general practices to employ practice nurses. The aim of this paper is to discuss limitations of the current funding and policy arrangements in enhancing the clinical role of practice nurses in the management of chronic conditions. This paper draws on the results of a real-world economic evaluation, the Primary Care Services Improvement Project (PCSIP). The PCSIP linked routinely collected clinical and resource use data to undertake a risk-adjusted cost-effectiveness analysis of increased practice nurse involvement in clinical-based activities for the management of diabetes and obesity. The findings of the PCSIP suggested that the active involvement of practice nurses in collaborative clinical-based activities is cost-effective, as well as addressing general practice workforce issues. Although primary healthcare organisations (e.g. Medicare Locals) can play a key role in supporting enhanced practice nurse roles, improvements to practice nurse funding models could further encourage more efficient use of an important resource. PMID:24870661

  5. Nutritional Issues in Cystic Fibrosis.

    PubMed

    Solomon, Missale; Bozic, Molly; Mascarenhas, Maria R

    2016-03-01

    The importance of maintaining adequate nutrition in patients with cystic fibrosis has been well known for the past 3 decades. Achieving normal growth and maintaining optimal nutrition is associated with improved lung function. Comprehensive and consistent nutritional assessments at regular intervals can identify those at risk of nutritional failure and uncover micronutrient deficiencies contributing to malnutrition. Management of malnutrition in cystic fibrosis should follow a stepwise approach to determine the causes and comorbidities and to develop a nutritional plan. Nutritional management is crucial at every stage in a person's life with cystic fibrosis and remains a cornerstone of management.

  6. Physicochemical characterization and biological activity of intrinsic factor in cystic fibrosis.

    PubMed

    Monin, B; Guéant, J L; Gérard, A; Michalski, J C; Vidailhet, M; Grignon, G; Nicolas, J P

    1990-01-01

    Absorption of crystalline labeled cobalamin is strongly decreased in cases of cystic fibrosis. In order to determine if this is due to an alteration or a lack of activation of intrinsic factor by proteases, the physicochemical properties and biological activity of intrinsic factor have been studied. Intrinsic factor was purified 800-fold from stimulated gastric juice of cystic fibrosis patients with a yield of 64.2%. Cystic fibrosis intrinsic factor had an estimated Mr of 57,000 in SDS-polyacrylamide gel electrophoresis. Its carbohydrate content resembled that of normal human intrinsic factor, except that the ratio fucose/sialic acid was higher (6.1 and 1.6, respectively) and that the content in N-acetylgalactosamine was decreased. The same alterations in carbohydrate composition were observed for Hc purified from cystic fibrosis saliva. Purified intrinsic factor from cystic fibrosis gastric juice was biologically active in vitro in the presence of ileal solubilized receptor as well as in vivo (Schilling test). The fate of iodinated cystic fibrosis intrinsic factor in guinea pig ileum studied by high-resolution radioautography was similar to that of normal intrinsic factor. In conclusion, despite modifications of the carbohydrate content of the molecule, the biological activity of intrinsic factor is not altered in cases of cystic fibrosis. The malassimilation of crystalline cobalamin observed in cystic fibrosis is due to a mechanism independent from intrinsic factor secretion. PMID:2324885

  7. Pneumothorax in cystic fibrosis

    PubMed Central

    Kioumis, Ioannis P.; Zarogoulidis, Konstantinos; Huang, Haidong; Li, Qiang; Dryllis, Georgios; Pitsiou, Georgia; Machairiotis, Nikolaos; Katsikogiannis, Nikolaos; Papaiwannou, Antonis; Lampaki, Sofia; Porpodis, Konstantinos; Zaric, Bojan; Branislav, Perin; Mpoukovinas, Ioannis; Lazaridis, George

    2014-01-01

    Pneumothorax is recognized as a common and life-threatening complication in cystic fibrosis (CF) patients, especially in those who are infected with P. aeruginosa, B. cepacia or Aspergillus, need enteral feeding, are diagnosed as suffering from allergic bronchopulmonary aspergillosis (ABPA), developed massive hemoptysis, and their respiratory function is seriously compromised. Structural impairment and altered airflow dynamics in the lungs of CF patients are considered as the main predisposing factors, but also inhaled medications and non-invasive positive pressure ventilation (NIPPV) could increase the risk of pneumothorax. Clinical presentation could range from dramatic to very mild. Management of spontaneous pneumothorax occurring to patients with CF is essentially similar to that for non-CF patients. Therapeutic options include intercostal tube drainage, video-assisted thoracoscopic surgery (VATS), and medical or surgical pleurodesis. Pneumothorax increases both short- and long-term morbidity and mortality in CF patients and causes significant deterioration of their quality of life. PMID:25337406

  8. [Cystic testicular lesions in infancy].

    PubMed

    Calleja Escudero, J; Pascual Samaniego, M; Garrido Redondo, M; Matas Gómez, V; Fernández Domínguez, L; Fernández del Busto, E

    2004-09-01

    The present article reports a case 11 month-old infant with a right intratesticular cyst. We analyze the etiology, differential diagnosis and management off all cystic lesions of the pediatric testis. Patient age at presentation, examination features, tumor markers and sonographic appearance may assist in making a presumptive and occasionally definitive diagnosis preoperatively. The differential diagnosis include intratesticular simple cyst, epidermoid cyst, tunica albuginea cyst, testicular teratoma, juvenil granulosa cell tumor-gonadal stromal tumor, cystic dysplasia of the rete testis, cystic lymphangioma, and testicular torsion. Usually enucleation is the best treatment. A thorough understanding of potentially cystic testis lesions in children leads to the best management choices and often to preservation of a substantial portion of the affected testis.

  9. Genetics Home Reference: cystic fibrosis

    MedlinePlus

    ... protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with ... experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral ...

  10. High-resolution numerical simulation of Venus atmosphere by AFES (Atmospheric general circulation model For the Earth Simulator)

    NASA Astrophysics Data System (ADS)

    Sugimoto, Norihiko; AFES project team

    2016-10-01

    We have developed an atmospheric general circulation model (AGCM) for Venus on the basis of AFES (AGCM For the Earth Simulator) and performed a high-resolution simulation (e.g., Sugimoto et al., 2014a). The highest resolution is T639L120; 1920 times 960 horizontal grids (grid intervals are about 20 km) with 120 vertical layers (layer intervals are about 1 km). In the model, the atmosphere is dry and forced by the solar heating with the diurnal and semi-diurnal components. The infrared radiative process is simplified by adopting Newtonian cooling approximation. The temperature is relaxed to a prescribed horizontally uniform temperature distribution, in which a layer with almost neutral static stability observed in the Venus atmosphere presents. A fast zonal wind in a solid-body rotation is given as the initial state.Starting from this idealized superrotation, the model atmosphere reaches a quasi-equilibrium state within 1 Earth year and this state is stably maintained for more than 10 Earth years. The zonal-mean zonal flow with weak midlatitude jets has almost constant velocity of 120 m/s in latitudes between 45°S and 45°N at the cloud top levels, which agrees very well with observations. In the cloud layer, baroclinic waves develop continuously at midlatitudes and generate Rossby-type waves at the cloud top (Sugimoto et al., 2014b). At the polar region, warm polar vortex surrounded by a cold latitude band (cold collar) is well reproduced (Ando et al., 2016). As for horizontal kinetic energy spectra, divergent component is broadly (k > 10) larger than rotational component compared with that on Earth (Kashimura et al., in preparation). We will show recent results of the high-resolution run, e.g., small-scale gravity waves attributed to large-scale thermal tides. Sugimoto, N. et al. (2014a), Baroclinic modes in the Venus atmosphere simulated by GCM, Journal of Geophysical Research: Planets, Vol. 119, p1950-1968.Sugimoto, N. et al. (2014b), Waves in a Venus general

  11. Cystic lesions of the pancreas

    PubMed Central

    Karoumpalis, Ioannis; Christodoulou, Dimitrios K.

    2016-01-01

    Different types of benign or malignant cystic lesions can be observed in the pancreas. Pancreatic cystic lesions are classified under pathology terms into simple retention cysts, pseudocysts and cystic neoplasms. Mucinous cystic neoplasm is a frequent type of cystic neoplasm and has a malignant potential. Serous cystadenoma follows in frequency and is usually benign. Intraductal papillary mucinous neoplasms are the most commonly resected cystic pancreatic neoplasms characterized by dilated segments of the main pancreatic duct and/or side branches, the wall of which is covered by mucus secreting cells. These neoplasms can occupy the pancreatic head or any part of the organ. Solid pseudopapillary tumor is rare, has a low tendency for malignancy, and is usually located in the pancreatic body or tail. Endoscopic ultrasound with the use of fine-needle aspiration and cytology permits discrimination of those lesions. In this review, the main characteristics of those lesions are presented, as well as recommendations regarding their follow up and management according to recent guidelines. PMID:27065727

  12. Parameterized Radiative Convective Equilibrium Across a Range of Domains: A Unifying Tool for General Circulation Models and High Resolution Models

    NASA Astrophysics Data System (ADS)

    Silvers, L. G.; Stevens, B. B.; Mauritsen, T.; Marco, G. A.

    2015-12-01

    The characteristics of clouds in General Circulation Models (GCMs) need to be constrained in a consistent manner with theory, observations, and high resolution models (HRMs). One way forward is to base improvements of parameterizations on high resolution studies which resolve more of the important dynamical motions and allow for less parameterizations. This is difficult because of the numerous differences between GCMs and HRMs, both technical and theoretical. Century long simulations at resolutions of 20-250 km on a global domain are typical of GCMs while HRMs often simulate hours at resolutions of 0.1km-5km on domains the size of a single GCM grid cell. The recently developed mode ICON provides a flexible framework which allows many of these difficulties to be overcome. This study uses the ICON model to compute SST perturbation simulations on multiple domains in a state of Radiative Convective Equilibrium (RCE) with parameterized convection. The domains used range from roughly the size of Texas to nearly half of Earth's surface area. All simulations use a doubly periodic domain with an effective distance between cell centers of 13 km and are integrated to a state of statistical stationarity. The primary analysis examines the mean characteristics of the cloud related fields and the feedback parameter of the simulations. It is shown that the simulated atmosphere of a GCM in RCE is sufficiently similar across a range of domain sizes to justify the use of RCE to study both a GCM and a HRM on the same domain with the goal of improved constraints on the parameterized clouds. The simulated atmospheres are comparable to what could be expected at midday in a typical region of Earth's tropics under calm conditions. In particular, the differences between the domains are smaller than differences which result from choosing different physics schemes. Significant convective organization is present on all domain sizes with a relatively high subsidence fraction. Notwithstanding

  13. Diagnosis of cystic echinococcosis: ultrasound imaging or countercurrent immunoelectrophoresis?

    PubMed

    Sadjjadi, S M; Ardehali, S; Noman-Pour, B; Kumar, V; Izadpanah, A

    2001-11-01

    Cystic echinococcosis is a major zoonotic diseases in the Islamic Republic of Iran. This study was carried out in 3 general hospitals in Shiraz. We examined the records of all 1227 surgical patients with a surgically-proven diagnosis of cystic echinococcosis for the 20-year period 1978-98. The results of countercurrent immunoelectrophoresis were compared with pathology and ultrasound reports to determine whether serological tests could be helpful for diagnosis. Countercurrent immunoelectrophoresis could detect only 62.0% of cases, whereas the pathology and ultrasound results were positive for 96.3% of cases. This study confirms the usefulness of ultrasound and suggests that only in doubtful cases would countercurrent immunoelectrophoresis be useful for diagnosing cystic echinococcosis.

  14. Mucolytics in cystic fibrosis.

    PubMed

    Henke, Markus O; Ratjen, Felix

    2007-03-01

    Mucus accumulation in the lower airways is a key feature of cystic fibrosis (CF) lung disease. The major component of mucus in CF is not mucin derived from mucus producing cells but rather pus that includes viscous material such as polymerized DNA derived from degraded neutrophils. This has important implications for mucolytic therapy aiming to improve mucus clearance from the airways, since degradation of mucin may not be a suitable treatment strategy. In addition, thinning of secretions may not always be beneficial, since it may negatively affect certain aspects of mucus transport such as cough clearance. While inhaled N-acetylcysteine has been used as a mucolytic drug in CF for decades, there is little evidence that it has any beneficial effect. Dornase alfa has been shown to reduce pulmonary exacerbations and improve lung function and is currently the only mucolytic agent with proven efficacy in CF. Newer agents targeting other components of CF mucus, such as filamentous actin, are currently in development. Ultimately, drugs that are mucokinetic, which preserve viscoelasticity, rather than mucolytic may prove to be beneficial for CF lung disease in the future. PMID:17419975

  15. PULMONARY CYSTIC ECHINOCOCCOSIS

    PubMed Central

    Santivanez, Saul; Garcia, Hector H.

    2012-01-01

    Pulmonary cystic echinococosis, a zoonosis caused by the larvae of the dog tapeworm Echinococcus granulosus, is considered as a major public health problem in those countries where dogs are used to care for large herds because of the incapacitating effects produced in affected population. The ratio lung:liver involvement is higher in children than in adults. A higher proportion of lung cases are discovered incidentally on a routine x-ray evaluation; the majority of infected people remain asymptomatic until the cyst enlarges sufficiently to cause symptoms. The majority of symptoms are caused by mass effect from the cyst volume; the presence of complications caused by cysts broke changes the clinical presentation; the principal complication is cyst rupture, producing cough, chest pain, hemoptysis, or vomica. Diagnosis is obtained by imaging evaluation (Chest X-ray or CT scan), supported by serology in the majority of cases. Surgery is the main therapeutic approach, having as principal objective, the removal of the parasite, preventing intraoperative dissemination; the use of pre surgical chemotherapy reduces the chances of seeding and recurrence; treatment using benzimidazoles is the preferred treatment when surgery is not available, or complete removal is not feasible PMID:20216420

  16. Epidemiological evaluation regarding the role of cystic fibrosis as a risk factor for child malnutrition.

    PubMed

    Florescu, Laura; Paduraru, Dana Teodora Anton; Mîndru, Dana Elena; Temneanu, Oana Raluea; Petrariu, F D; Matei, Mioara Calipsoana

    2014-01-01

    Cystic fibrosis (CF) is the most common monogenic autosomal recessive disorder with progressive chronic evolution which is potentially lethal. Poor growth is a characteristic of children suffering from cystic fibrosis. A poor nutritional status is an independent risk factor for inadequate survival in cystic fibrosis and is associated with disease complications. The appropriate nutritional management is an important part of the treatment so that the patient with cystic fibrosis can achieve normal growth and development and maintain the best possible health status. A balanced diet supplemented with snacks high in fat and calories is necessary to increase the caloric intake in children with cystic fibrosis. Children with cystic fibrosis have higher caloric needs than healthy children of the same age and sex. Malnutrition in CF is multifactorial. Cystic fibrosis is a complex multisystem disorder affecting mainly the gastrointestinal tract and respiratory system. In the past, malnutrition was an inevitable consequence of disease progression, leading to poor growth, impaired respiratory muscle function, decreased exercise tolerance and immunological impairment. A positive association between body weight and height and survival has been widely reported. The energy requirements of patients with CF vary widely and generally increase with age and disease severity. Cystic fibrosis remains a paediatric disorder which is often underdiagnosed but which, if therapeutically managed properly (by means of drug therapy as well as by appropriate physiotherapy techniques), can lead to improved quality of life and, thus, to a bigger life expectancy. PMID:25076714

  17. Cystic Lesions in Autoimmune Pancreatitis.

    PubMed

    Gompertz, Macarena; Morales, Claudia; Aldana, Hernán; Castillo, Jaime; Berger, Zoltán

    2015-01-01

    Autoimmune pancreatitis (AIP) can be chronic or recurrent, but frequently completely reversible after steroid treatment. A cystic lesion in AIP is a rare finding, and it can mimic a pancreatic cystic neoplasm. Difficulties in an exact diagnosis interfere with treatment, and surgery cannot be avoided in some cases. We report the history of a 63-year-old male presenting with jaundice and pruritus. AIP was confirmed by imaging and elevated IgG4 blood levels, and the patient completely recovered after corticosteroid therapy. One year later, he presented with a recurrent episode of AIP with elevated IgG4 levels, accompanied by the appearance of multiple intrapancreatic cystic lesions. All but 1 of these cysts disappeared after steroid treatment, but the remaining cyst in the pancreatic head was even somewhat larger 1 year later. Pancreatoduodenectomy was finally performed. Histology showed the wall of the cystic lesion to be fibrotic; the surrounding pancreatic tissue presented fibrosis, atrophy and lymphoplasmacytic infiltration by IgG4-positive cells, without malignant elements. Our case illustrates the rare possibility that cystic lesions can be part of AIP. These pseudocysts appear in the pancreatic segments involved in the autoimmune disease and can be a consequence of the local inflammation or related to ductal strictures. Steroid treatment should be initiated, after which these cysts can completely disappear with recovery from AIP. Surgical intervention may be necessary in some exceptional cases.

  18. Mucinous Cystic Neoplasms of Pancreas

    PubMed Central

    Naveed, Shah; Qari, Hasina; Banday, Tanveer; Altaf, Asma; Para, Mah

    2014-01-01

    The purpose of this study was to investigate the actual management of mucinous cystic neoplasm (MCN) of the pancreas. A systematic review was performed in December 2009 by consulting PubMed MEDLINE for publications and matching the key words “pancreatic mucinous cystic neoplasm”, “pancreatic mucinous cystic tumor”, “pancreatic mucinous cystic mass”, “pancreatic cyst” and “pancreatic cystic neoplasm” to identify English language articles describing the diagnosis and treatment of the MCN of the pancreas. In total, 16,322 references ranging from January 1969 to December 2009 were analyzed and 77 articles were identified. No articles published before 1996 were selected because MCNs were not previously considered to be a completely autonomous disease. Definition, epidemiology, anatomopathological findings, clinical presentation, preoperative evaluation, treatment and prognosis were reviewed. MCNs are pancreatic mucin-producing cysts with a distinctive ovarian-type stroma localized in the body-tail of the gland and occurring in middle-aged females. The majority of MCNs are slow growing and asymptomatic. The prevalence of invasive carcinoma varies between 6% and 55%. Preoperative diagnosis depends on a combination of clinical features, tumor markers, computed tomography (CT), magnetic resonance imaging, endoscopic ultrasound with cyst fluid analysis and positron emission tomography-CT. Surgery is indicated for all MCNs.

  19. Using Cystic Fibrosis Therapies for Non-Cystic Fibrosis Bronchiectasis.

    PubMed

    ElMaraachli, Wael; Conrad, Douglas J; Wang, Angela C C

    2016-03-01

    Non-cystic fibrosis bronchiectasis (NCFB) is an increasingly prevalent disease that places a significant burden on patients and health systems globally. Although many of the therapies used to treat NCFB were originally developed as cystic fibrosis (CF) therapies, not all of them have been demonstrated to be efficacious in NCFB and some may even be harmful. This article explores the evidence for which therapeutic strategies used to treat CF have been translated into the care of NCFB. The conclusion is that therapies for adult NCFB cannot be simply extrapolated from CF clinical trials, and in some instances, doing so may actually result in harm.

  20. A Case of Bilateral Cystic Partially Differentiated Nephroblastoma vs Cystic Wilms' Tumor: Highlighting a Diagnostic Dilemma.

    PubMed

    Stout, Thomas E; Au, Jason K; Hicks, J M; Gargollo, Patricio C

    2016-06-01

    Cystic partially differentiated nephroblastoma (CPDN) is a rare multicystic renal tumor along the spectrum of cystic nephroma and cystic Wilms' tumor. There have only been two previously reported cases of bilateral CPDN in the literature. We present here a case of bilateral CPDN vs cystic Wilms' tumor treated with neoadjuvant and adjuvant chemotherapy in addition to a bilateral partial nephrectomy. We also review the relevant literature regarding CPDN in an effort to aid in diagnosis and management of these rare cystic renal tumors.

  1. [Cystic cancer of the kidney].

    PubMed

    el Moussaoui, A; Dakir, M; Sarf, I; Aboutaeib, R; el Mrini, M; Benjelloun, S

    1997-01-01

    Cystic renal cancer is uncommon and raises real preoperative diagnostic problems, requiring the use of medical imaging, and sometimes even surgery. The authors report 3 cases of cystic renal cancer in 2 men and 1 woman, aged 87, 67 and 20 years, respectively. Three patients presented with the urological triad (haematuria, pain and lumbar mass). Ultrasonography suggested the diagnosis of cystic cancer in all 3 cases. Computed tomography was performed in 2 patients and more precisely confirmed the ultrasound findings. Selective arteriography, performed in one patient, confirmed the hypothesis of malignancy. Surgical exploration resulted in radical total nephrectomy. Histology confirmed the diagnosis of adenocarcinoma. The course was favourable in 2 cases after a follow-up of 4 years. One patient presented a local recurrence with pulmonary metastases 6 months after the operation. A review of the literature illustrates the diagnostic difficulties of this form of renal cancer.

  2. [Abdominal cystic tumor revealing lymphangioleiomyomatosis].

    PubMed

    Barbier, L; Ebbo, M; Andrac-Meyer, L; Schneilitz, N; Le Treut, Y-P; Reynaud-Gaubert, M; Hardwigsen, J

    2009-02-01

    We report the case of a 39 year-old woman with many years of intermittent abdominal pain who was found to have cystic masses evocative of cystic lymphangioma involving the posterior mediastinal and retroperitoneum. Worsening abdominal pain led to a recommendation for laparoscopic unroofing and decompression of the cysts. During the postoperative period, hemorrhagic shock required reintervention with excision of the tumoral mass. Pathologic examination revealed lymphangioleiomyomatosis (LAM). On the 15th postoperative day, the patient developed a chylopneumothorax which required prolonged chest tube drainage. The presence of multiple polycystic lesions in the pulmonary parenchyma supported the diagnosis of diffuse LAM with primary extrapulmonary presentation. This diagnosis should be considered preoperatively since it modifies the treatment: a complete excision of the cystic lesions seems to be necessary in order to prevent bleeding and lymphatic extravasation.

  3. Smell in cystic fibrosis.

    PubMed

    Lindig, J; Steger, C; Beiersdorf, N; Michl, R; Beck, J F; Hummel, T; Mainz, J G

    2013-03-01

    In cystic fibrosis (CF), the most frequent life threatening inherited disease in Caucasians, sinonasal mucosa is regularly affected by defective mucociliary clearance. This facilitates pathogen colonization into CF airways and causes frequent symptoms of rhinosinusitis, including an impaired sense of smell. Despite probable effects on nutrition and overall health, CF-rhinosinusitis is little understood: CF-associated smelling deficiencies reported in literature vary between 12 and 71 %. The aim of this study was to assess olfactory and gustatory function in relation to sinonasal symptoms and sinonasal colonization, and lung function and nutrition. Thirty-five CF patients of different ages were compared to 35 age-matched healthy controls. Olfactory function was assessed by 'Sniffin'Sticks', gustatory qualities by "Taste-strips", and symptoms by sino-nasal outcome test 20 (SNOT-20). Normosmia was found in 62.8 % of healthy controls but only in 28.6 % of CF patients. In contrast the majority of CF patients exhibited a smell loss; almost 62.9 % of them were hyposmic, and 8.6 % functionally anosmic. Importantly, reduced olfactory function only affected odor thresholds, which were significantly increased in CF, not odor identification. This suggests that the olfactory dysfunction in CF results from the olfactory periphery due to either problems in conduction and/or a functional lesion due to the inflammatory process. SNOT-20 scores increased continuously from normosmic to hyposmic and anosmic CF patients (means 7.2/11.1/28.3 points). Neither sinonasal pathogen colonization, gender, pulmonary function, nor allergy or sinonasal surgery appeared to have significant effects on olfactory function and taste. Olfactory disorders are considerably more frequent in CF patients than in age-matched healthy controls. Assessing these parameters within CF-routine care should be considered because of their importance to nutrition and, thus, overall therapy outcome.

  4. [Historical compilation of cystic fibrosis].

    PubMed

    Navarro, Salvador

    2016-01-01

    Cystic fibrosis is the most common life-shortening recessively inherited disorder in the Caucasian population. The genetic mutation that most frequently provokes cystic fibrosis (ΔF508) appeared at least 53,000years ago. For many centuries, the disease was thought to be related to witchcraft and the "evil eye" and it was only in 1938 that Dorothy H. Andersen characterized this disorder and suspected its genetic origin. The present article reviews the pathological discoveries and diagnostic and therapeutic advances made in the last 75 years. The review ends with some considerations for the future.

  5. Newborn intraabdominal cystic lymphatic malformations.

    PubMed

    Lin, J I; Fisher, J; Caty, M G

    2000-08-01

    Cystic lymphatic malformations are rare causes of abdominal masses in the newborn. Also known as mesenteric, omental, or retroperitoneal cysts, they can present in a variety of ways including, intestinal obstruction, volvulus, nonspecific abdominal pain, intracystic hemorrhage, or as an asymptomatic abdominal mass. Abdominal ultrasound scan provides a definitive diagnosis in most suspected cases. Complete resection is possible in most patients except those with extensive retroperitoneal involvement. Recurrence is unusual when complete resection is accomplished. Because most case series with complete data suggest that these entities are lymphatic malformations, the authors suggest the more specific term, cystic lymphatic malformations, be used to describe these lesions.

  6. [Adrenal cystic masses. Our experience].

    PubMed

    Costantino, V; Petrin, P; Da Lio, C; Zaramella, D; Pedrazzoli, S

    1993-10-01

    Cystic masses of the adrenal gland are clinically and pathologically rare findings and few cases have been reported up to now in the medical literature. In the present work 5 new cases are reported: 3 adrenal pseudocysts, 1 lymphangioma, 1 cystic pheochromocytoma. In 3 cases there were clinical symptoms of retroperitoneal mass (lumbar pain, palpable mass, digestive symptoms); in 3 cases conventional radiology was helpful; ultrasonography was used for diagnosis in 1, CT scan in 2. In the pheochromocytoma case the real nature of the mass was determined through fluid hormone determination after fine needle puncture. All cases were treated by surgery.

  7. [Historical compilation of cystic fibrosis].

    PubMed

    Navarro, Salvador

    2016-01-01

    Cystic fibrosis is the most common life-shortening recessively inherited disorder in the Caucasian population. The genetic mutation that most frequently provokes cystic fibrosis (ΔF508) appeared at least 53,000years ago. For many centuries, the disease was thought to be related to witchcraft and the "evil eye" and it was only in 1938 that Dorothy H. Andersen characterized this disorder and suspected its genetic origin. The present article reviews the pathological discoveries and diagnostic and therapeutic advances made in the last 75 years. The review ends with some considerations for the future. PMID:26070393

  8. Cystic pineocytoma--case report.

    PubMed

    Momozaki, N; Ikezaki, K; Abe, M; Fukui, M; Fujii, K; Kishikawa, T

    1992-03-01

    Pineocytoma and pineoblastoma, originating from pineal parenchyma, are rare and usually solid. An unusual case of totally cystic pineocytoma in a 37-year-old female is reported. The tumor showed neuronal differentiation and had a good outcome. Prominent calcification associated with pineocytoma and pineoblastoma is an useful finding to differentiate these from benign pineal cysts. PMID:1377802

  9. Cystic mesothelioma of the peritoneum.

    PubMed

    O'Neil, J D; Ros, P R; Storm, B L; Buck, J L; Wilkinson, E J

    1989-02-01

    Cystic mesothelioma (CM) of the peritoneum is a rare, benign neoplasm that occurs predominantly in women and tends to recur locally. It has received little attention (to our knowledge, a single case report) in the radiology literature. Five cases of CM are presented. Computed tomography (CT) was performed in three cases, ultrasound (US) in four cases, and magnetic resonance (MR) imaging in one case. Twenty-eight cases reported in the literature are reviewed for comparison. CM shows a clear predilection for the surfaces of the pelvic viscera but is seen in other areas of the peritoneum and retroperitoneum. The neoplasm was intraperitoneal in three cases and primarily retroperitoneal in the other two cases. In all CT and US studies performed, a single large, multilocular cystic mass was demonstrated. MR imaging, performed in one case, showed that the lesion had signal characteristics typical of a watery collection low in solute concentration. It is concluded that CM of the peritoneum has a nonspecific multilocular cystic appearance on images, which does not permit it to be differentiated from other cystic lesions.

  10. [Therapeutic update in cystic fibrosis].

    PubMed

    Durupt, S; Nove Josserand, R; Durieu, I

    2014-06-01

    We present the recent therapeutic advances in the cystic fibrosis care. It concerns improvements in symptomatic treatment with the development of dry powder inhaled antibiotics that improved quality of life, and innovative treatments namely the modulators of the cystic fibrosis transmembrane protein conductance regulator (CFTR), molecules which act specifically at the level of the defective mechanisms implied in the disease. The life expectancy of cystic fibrosis patients born after 2000, is estimated now to be about 50 years. This improvement of survival was obtained with the organization of the care within the specialized centers for cystic fibrosis (Centre de ressource et de compétences de la mucoviscidose) and remains still based on heavy symptomatic treatments. Dry powder inhaled antibiotics constitute a significant time saving for patients to whom all the care can achieve two hours daily. Since 2012, the modulators of CFTR, molecules allowing a pharmacological approach targeted according to the type of the mutations, allows a more specific approach of the disease. Ivacaftor (Kalydeco(®)) which potentialises the function of the CFTR protein expressed on the cellular surface is now available for patients with the G551D mutation. Lumacaftor is going to be tested in association with ivacaftor in patients with the F508del mutation, that is present in at least 75% of the patients. The ataluren which allows the production of a functional protein CFTR in patients with a no sense mutation is the third representing of this new therapeutic class. We presently have numerous symptomatic treatments for the cystic fibrosis care. The development of CFTR modulators, today available to a restricted number of patients treated with ivacaftor represents a very promising therapeutic avenue. It will represent probably the first step to a personalized treatment according to CFTR genotype.

  11. General strategies to increase the repeatability in non-target screening by liquid chromatography-high resolution mass spectrometry.

    PubMed

    Bader, Tobias; Schulz, Wolfgang; Kümmerer, Klaus; Winzenbacher, Rudi

    2016-09-01

    This article focuses on the data evaluation of non-target high-resolution LC-MS profiles of water samples. Taking into account multiple technical replicates, the difficulties in peak recognition and the related problems of false positive and false negative findings are systematically demonstrated. On the basis of a combinatorial approach, different models involving sophisticated workflows are evaluated, particularly with regard to the repeatability. In addition, the improvement resulting from data processing was systematically taken into consideration where the recovery of spiked standards emphasized that real peaks of interest were barely or not removed by the derived filter criteria. The comprehensive evaluation included different matrix types spiked with up to 263 analytical standards which were analyzed repeatedly leading to a total number of more than 250 injections that were incorporated in the assessment of different models of data processing. It was found that the analysis of multiple replicates is the key factor as, on the one hand, it provides the option of integrating valuable filters in order to minimize the false positive rate and, on the other hand, allows correcting partially false negative findings occurring during the peak recognition. The developed processing strategies including replicates clearly point to an enhanced data quality since both the repeatability as well as the peak recognition could be considerably improved. As proof of concept, four different matrix types, including a wastewater treatment plant (WWTP) effluent, were spiked with 130 isotopically labeled standards at different concentration levels. Despite the stringent filter criteria, at 100 ng L(-1) recovery rates of up to 93% were reached in the positive ionization mode. The proposed model, comprising three technical replicates, filters less than 5% and 2% of the standards recognized at 100 and 500 ng L(-1), respectively and thus indicates the general applicability of the

  12. General strategies to increase the repeatability in non-target screening by liquid chromatography-high resolution mass spectrometry.

    PubMed

    Bader, Tobias; Schulz, Wolfgang; Kümmerer, Klaus; Winzenbacher, Rudi

    2016-09-01

    This article focuses on the data evaluation of non-target high-resolution LC-MS profiles of water samples. Taking into account multiple technical replicates, the difficulties in peak recognition and the related problems of false positive and false negative findings are systematically demonstrated. On the basis of a combinatorial approach, different models involving sophisticated workflows are evaluated, particularly with regard to the repeatability. In addition, the improvement resulting from data processing was systematically taken into consideration where the recovery of spiked standards emphasized that real peaks of interest were barely or not removed by the derived filter criteria. The comprehensive evaluation included different matrix types spiked with up to 263 analytical standards which were analyzed repeatedly leading to a total number of more than 250 injections that were incorporated in the assessment of different models of data processing. It was found that the analysis of multiple replicates is the key factor as, on the one hand, it provides the option of integrating valuable filters in order to minimize the false positive rate and, on the other hand, allows correcting partially false negative findings occurring during the peak recognition. The developed processing strategies including replicates clearly point to an enhanced data quality since both the repeatability as well as the peak recognition could be considerably improved. As proof of concept, four different matrix types, including a wastewater treatment plant (WWTP) effluent, were spiked with 130 isotopically labeled standards at different concentration levels. Despite the stringent filter criteria, at 100 ng L(-1) recovery rates of up to 93% were reached in the positive ionization mode. The proposed model, comprising three technical replicates, filters less than 5% and 2% of the standards recognized at 100 and 500 ng L(-1), respectively and thus indicates the general applicability of the

  13. Poly Cystic Ovarian Syndrome: An Updated Overview

    PubMed Central

    El Hayek, Samer; Bitar, Lynn; Hamdar, Layal H.; Mirza, Fadi G.; Daoud, Georges

    2016-01-01

    Poly Cystic Ovarian Syndrome (PCOS) is one of the most common metabolic and reproductive disorders among women of reproductive age. Women suffering from PCOS present with a constellation of symptoms associated with menstrual dysfunction and androgen excess, which significantly impacts their quality of life. They may be at increased risk of multiple morbidities, including obesity, insulin resistance, type II diabetes mellitus, cardiovascular disease (CVD), infertility, cancer, and psychological disorders. This review summarizes what the literature has so far provided from guidelines to diagnosis of PCOS. It will also present a general overview about the morbidities associated with this disease, specifically with its more severe classic form. Finally, the review will stress on the various aspects of treatment and screening recommendations currently used in the management of this condition. PMID:27092084

  14. Biomarkers in Paediatric Cystic Fibrosis Lung Disease.

    PubMed

    Ramsey, Kathryn A; Schultz, André; Stick, Stephen M

    2015-09-01

    Biomarkers in cystic fibrosis are used i. for the measurement of cystic fibrosis transmembrane regulator function in order to diagnose cystic fibrosis, and ii. to assess aspects of lung disease severity (e.g. inflammation, infection). Effective biomarkers can aid disease monitoring and contribute to the development of new therapies. The tests of cystic fibrosis transmembrane regulator function each have unique strengths and weaknesses, and biomarkers of inflammation, infection and tissue destruction have the potential to enhance the management of cystic fibrosis through the early detection of disease processes. The development of biomarkers of cystic fibrosis lung disease, in particular airway inflammation and infection, is influenced by the challenges of obtaining relevant samples from infants and children for whom early detection and treatment of disease might have the greatest long term benefits.

  15. On the Maxwell-Stefan approach to diffusion: a general resolution in the transient regime for one-dimensional systems.

    PubMed

    Leonardi, Erminia; Angeli, Celestino

    2010-01-14

    The diffusion process in a multicomponent system can be formulated in a general form by the generalized Maxwell-Stefan equations. This formulation is able to describe the diffusion process in different systems, such as, for instance, bulk diffusion (in the gas, liquid, and solid phase) and diffusion in microporous materials (membranes, zeolites, nanotubes, etc.). The Maxwell-Stefan equations can be solved analytically (only in special cases) or by numerical approaches. Different numerical strategies have been previously presented, but the number of diffusing species is normally restricted, with only few exceptions, to three in bulk diffusion and to two in microporous systems, unless simplifications of the Maxwell-Stefan equations are considered. In the literature, a large effort has been devoted to the derivation of the analytic expression of the elements of the Fick-like diffusion matrix and therefore to the symbolic inversion of a square matrix with dimensions n x n (n being the number of independent components). This step, which can be easily performed for n = 2 and remains reasonable for n = 3, becomes rapidly very complex in problems with a large number of components. This paper addresses the problem of the numerical resolution of the Maxwell-Stefan equations in the transient regime for a one-dimensional system with a generic number of components, avoiding the definition of the analytic expression of the elements of the Fick-like diffusion matrix. To this aim, two approaches have been implemented in a computational code; the first is the simple finite difference second-order accurate in time Crank-Nicolson scheme for which the full mathematical derivation and the relevant final equations are reported. The second is based on the more accurate backward differentiation formulas, BDF, or Gear's method (Shampine, L. F. ; Gear, C. W. SIAM Rev. 1979, 21, 1.), as implemented in the Livermore solver for ordinary differential equations, LSODE (Hindmarsh, A. C. Serial

  16. On the Maxwell-Stefan approach to diffusion: a general resolution in the transient regime for one-dimensional systems.

    PubMed

    Leonardi, Erminia; Angeli, Celestino

    2010-01-14

    The diffusion process in a multicomponent system can be formulated in a general form by the generalized Maxwell-Stefan equations. This formulation is able to describe the diffusion process in different systems, such as, for instance, bulk diffusion (in the gas, liquid, and solid phase) and diffusion in microporous materials (membranes, zeolites, nanotubes, etc.). The Maxwell-Stefan equations can be solved analytically (only in special cases) or by numerical approaches. Different numerical strategies have been previously presented, but the number of diffusing species is normally restricted, with only few exceptions, to three in bulk diffusion and to two in microporous systems, unless simplifications of the Maxwell-Stefan equations are considered. In the literature, a large effort has been devoted to the derivation of the analytic expression of the elements of the Fick-like diffusion matrix and therefore to the symbolic inversion of a square matrix with dimensions n x n (n being the number of independent components). This step, which can be easily performed for n = 2 and remains reasonable for n = 3, becomes rapidly very complex in problems with a large number of components. This paper addresses the problem of the numerical resolution of the Maxwell-Stefan equations in the transient regime for a one-dimensional system with a generic number of components, avoiding the definition of the analytic expression of the elements of the Fick-like diffusion matrix. To this aim, two approaches have been implemented in a computational code; the first is the simple finite difference second-order accurate in time Crank-Nicolson scheme for which the full mathematical derivation and the relevant final equations are reported. The second is based on the more accurate backward differentiation formulas, BDF, or Gear's method (Shampine, L. F. ; Gear, C. W. SIAM Rev. 1979, 21, 1.), as implemented in the Livermore solver for ordinary differential equations, LSODE (Hindmarsh, A. C. Serial

  17. Pharmacogenetics of cystic fibrosis treatment.

    PubMed

    Carter, Suzanne C; McKone, Edward F

    2016-08-01

    Cystic fibrosis (CF) is genetic autosomal recessive disease caused by reduced or absent function of CFTR protein. Treatments for patients with CF have primarily focused on the downstream end-organ consequences of defective CFTR. Since the discovery of the CFTR gene that causes CF in 1989 there have been tremendous advances in our understanding of the genetics and pathophysiology of CF. This has recently led to the development of new CFTR mutation-specific targeted therapies for select patients with CF. This review will discuss the characteristics of the CFTR gene, the CFTR mutations that cause CF and the new mutation specific pharmacological treatments including gene therapy that are contributing to the dawning of a new era in cystic fibrosis care. PMID:27490265

  18. Mesenteric cystic lymphangioma mimicking malignancy.

    PubMed

    Hureibi, Khalid; Sunidar, Osama A

    2014-01-01

    Mesenteric cystic lymphangiomas are benign tumours arising from the mesentery, and have no known aetiology. Patients might be discovered incidentally to have asymptomatic mesenteric cysts, or they can present with symptoms such as pain, nausea and vomiting. A 27-year-old man presented with vague abdominal pain, loss of appetite, postprandial fullness and significant weight loss. There was no lymphadenopathy, and abdominal examination was unremarkable. CT showed a mesenteric mass and a diagnosis of abdominal lymphoma was suggested. There was no evidence of pulmonary tuberculosis on chest X-ray and the purified protein derivative test was negative. On laparotomy, a 5×9×7 cm sessile cyst containing thick white fluid and arising from the ileal mesentery was found and completely removed. Histopathology proved a diagnosis of mesenteric cystic lymphangioma. The patient made uneventful recovery, and was asymptomatic on clinical follow-up after 6 weeks. PMID:25178885

  19. Mesenteric cystic lymphangioma mimicking malignancy

    PubMed Central

    Hureibi, Khalid; Sunidar, Osama A

    2014-01-01

    Mesenteric cystic lymphangiomas are benign tumours arising from the mesentery, and have no known aetiology. Patients might be discovered incidentally to have asymptomatic mesenteric cysts, or they can present with symptoms such as pain, nausea and vomiting. A 27-year-old man presented with vague abdominal pain, loss of appetite, postprandial fullness and significant weight loss. There was no lymphadenopathy, and abdominal examination was unremarkable. CT showed a mesenteric mass and a diagnosis of abdominal lymphoma was suggested. There was no evidence of pulmonary tuberculosis on chest X-ray and the purified protein derivative test was negative. On laparotomy, a 5×9×7 cm sessile cyst containing thick white fluid and arising from the ileal mesentery was found and completely removed. Histopathology proved a diagnosis of mesenteric cystic lymphangioma. The patient made uneventful recovery, and was asymptomatic on clinical follow-up after 6 weeks. PMID:25178885

  20. Cystic fibrosis mutations in Costa Rica.

    PubMed

    Venegas, Patricia B; Novak, Jessica M; Oscar, Castro A; Sánchez, Félix L; Gutiérrez, Inés G; Rivera, Julio M; Salas, Jorge P; Montero, Jenny F; Grody, Wayne W

    2003-04-01

    Using polymerase chain reaction amplification of DNA in dried blood spots and a nonisotopic reverse dot blot hybridization method, we performed molecular genetic analysis for 6 and for 16 of the most common mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) in 24 unrelated Costa Rican individuals with cystic fibrosis (CF). While many countries and ethnic groups have been surveyed for CF mutations since the cloning of CFTR, Costa Rica has not heretofore been studied. Moreover, Costa Rica represents an especially intriguing population because of its mixed European-African-Amerindian origins and the existence of a detailed historical record of the founding Spanish families. Thus, such a study may reveal not only the population frequencies of various mutant alleles in this country, but also something about their geographic migrations and ethnic founder effects. The most common CF mutation in Caucasians, deltaF508, was found in only 11 (23%) of the CF chromosomes studied, while the G542X mutation, relatively rare in the general population but more common in southern Europe, was observed in 12 (25%). None of the other mutations tested was found in any of the subjects. We failed to detect the second mutant allele in 17 subjects and could not detect either allele in 4 subjects. The high prevalence of the G542X mutation in our cohort, which exceeds that of both the general Caucasian population and the American Hispanic population, reflects the strong genetic influence of the original Spanish founding families of Costa Rica. These results highlight important differences in Costa Rican CF genotypes as compared both to other North American and European populations and to American Hispanics, raising important implications about isolated founder effects and strategies for population screening in that country.

  1. A multidecadal simulation of Atlantic tropical cyclones using a variable-resolution global atmospheric general circulation model

    NASA Astrophysics Data System (ADS)

    Zarzycki, Colin M.; Jablonowski, Christiane

    2014-09-01

    Using a variable-resolution option within the National Center for Atmospheric Research/Department of Energy Community Atmosphere Model (CAM) Spectral Element (SE) global model, a refined nest at 0.25° (˜28 km) horizontal resolution located over the North Atlantic is embedded within a global 1° (˜111 km) grid. The grid is designed such that fine grid cells are located where tropical cyclones (TCs) are observed to occur during the Atlantic TC season (June-November). Two simulations are compared, one with refinement and one control case with no refinement (globally uniform 1° grid). Both simulations are integrated for 23 years using Atmospheric Model Intercomparison Protocols. TCs are tracked using an objective detection algorithm. The variable-resolution simulation produces significantly more TCs than the unrefined simulation. Storms that do form in the refined nest are much more intense, with multiple storms strengthening to Saffir-Simpson category 3 intensity or higher. Both count and spatial distribution of TC genesis and tracks in the variable-resolution simulation are well matched to observations and represent significant improvements over the unrefined simulation. Some degree of interannual skill is noted, with the variable-resolution grid able to reproduce the observed connection between Atlantic TCs and the El Niño-Southern Oscillation (ENSO). It is shown that Genesis Potential Index (GPI) is well matched between the refined and unrefined simulations, implying that the introduction of variable-resolution does not affect the synoptic environment. Potential "upscale" effects are noted in the variable-resolution simulation, suggesting stronger TCs in refined nests may play a role in meridional transport of momentum, heat, and moisture.

  2. Adenoid cystic carcinoma of trachea.

    PubMed

    Vigg, Ajit; Mantri, Sumant; Vigg, Avanti; Vigg, Arul

    2004-01-01

    A 20-year-old male, presented with cough, haemoptysis, breathlessness and wheezing for the past one month. Contrast enhanced computerised tomographic (CECT), scan of chest and fibreoptic bronchoscopy revealed an endotracheal mass that on histopathological examination showed adenoid cystic carcinoma of trachea. Magnetic resonance imaging (MRI) scan of chest confirmed involvement of adjacent prevertebral, para-oesophageal and subcarinal lymph nodes rendering the tumour inoperable. PMID:15515830

  3. [Retroperitoneal cystic mesothelioma and lymphangioma].

    PubMed

    Segura Martín, M; Lorenzo Romero, J G; Hernández Millán, I; Pastor Guzmán, J M; Salinas Sánchez, A S; Ruiz Mondéjar, R; Virseda Rodríguez, J A

    1998-03-01

    Retroperitoneal cysts are uncommon entities of difficult diagnosis because of their insidious symptomatology. Urinary apparatus involvement is quite often the mode of presentation and the reason for calling on the urologist. The origin of many of these retroperitoneal cysts remains practically unknown. Surgery with exeresis is the choice management method. Follow-up is necessary for cystic mesothelioma because of the highly frequent relapses. The outlook of hormonal conservative therapy for relapses appears as a future alternative to treatment.

  4. [Cystic lesion in the area of the vestibular folds].

    PubMed

    Pump, J B; Schröck, A; Ozretić, L; Bootz, F

    2012-03-01

    Warthin tumor is the second most frequently seen benign tumor of the salivary glands and is generally located in the parotid gland. Although extraparotideal manifestations in the small salivary glands are rare, the occurrence of cystic lesions in the area of the nasopharynx, eyelid, oral cavity or vestibular folds should include the Warthin tumor in the differential diagnosis. The therapy of choice is complete surgical tumor resection.

  5. Investigating Cenozoic climate change in tectonically active regions with a high-resolution atmospheric general circulation model (ECHAM5)

    NASA Astrophysics Data System (ADS)

    Mutz, Sebastian; Ehlers, Todd; Li, Jingmin; Werner, Martin; Stepanek, Christian; Lohmann, Gerrit

    2016-04-01

    Studies of Cenozoic palaeo-climates contribute to our understanding of contemporary climate change by providing insight into analogues such as the Pliocene (PLIO), and by evaluation of GCM (General Circulation Models) performance using the Mid-Holocene (MH) and the Last Glacial Maximum (LGM). Furthermore, climate is a factor to be considered in the evolution of ecology, landscapes and mountains, and in the reconstruction of erosion histories. In this study, we use high-resolution (T159) ECHAM5 simulations to investigate pre-industrial (PI) and the the above mentioned palaeo-climates for four tectonically active regions: Alaska (St. Elias Range), the US Northwest Pacific (Cascade Range), western South America (Andes) and parts of Asia (Himalaya-Tibet). The PI climate simulation is an AMIP (Atmospheric Model Intercomparison Project) style ECHAM5 experiment, whereas MH and LGM simulation are based on simulations conducted at the Alfred Wegner Institute, Bremerhaven. Sea surface boundary conditions for MH were taken from coupled atmosphere-ocean model simulations (Wei and Lohmann, 2012; Zhang et al, 2013) and sea surface temperatures and sea ice concentration for the LGM are based on GLAMAP project reconstructions (Schäfer-Neth and Paul, 2003). Boundary conditions for the PLIO simulation are taken from the PRISM (Pliocene Research, Interpretation and Synoptic Mapping) project and the employed PLIO vegetation boundary condition is created by means of the transfer procedure for the PRISM vegetation reconstruction to the JSBACH plant functional types as described by Stepanek and Lohmann (2012). For each of the investigated areas and time slices, the regional simulated climates are described by means of cluster analyses based on the variability of precipitation, 2m air temperature and the intra-annual amplitude of the values. Results indicate the largest differences to a PI climate are observed for LGM and PLIO climates in the form of widespread cooling and warming

  6. Application of crystallization-induced asymmetric transformation to a general, scalable method for the resolution of 2,8-disubstituted Tröger's base derivatives.

    PubMed

    Jameson, Donald L; Field, Thomas; Schmidt, Monica R; DeStefano, Alyson K; Stiteler, Christopher J; Venditto, Vincent J; Krovic, Brooke; Hoffman, Christopher M; Ondisco, Matthew T; Belowich, Matthew E

    2013-11-15

    A general method for the gram scale resolution of 2-substituted and 2,8-disubstituted Tröger's base (TB) derivatives in 63-91% yield has been achieved through the application of crystallization-induced asymmetric transformation (CIAT). Enantiomeric ratios of the resolved TB derivatives range from 99.1:0.9 to >99.5:0.5. Among the Tröger's base compounds resolved are four synthetically valuable bromo and iodo derivatives. PMID:24116701

  7. A combination therapy for cystic fibrosis.

    PubMed

    Brodsky, Jeffrey L; Frizzell, Raymond A

    2015-09-24

    The most prevalent form of cystic fibrosis arises from an amino acid deletion in the cystic fibrosis transmembrane conductance regulator, CFTR. A recently approved treatment for individuals homozygous for this mutation combines a chemical corrector, which helps CFTR fold, and a potentiator that increases CFTR channel activity. PMID:26406363

  8. A combination therapy for cystic fibrosis.

    PubMed

    Brodsky, Jeffrey L; Frizzell, Raymond A

    2015-09-24

    The most prevalent form of cystic fibrosis arises from an amino acid deletion in the cystic fibrosis transmembrane conductance regulator, CFTR. A recently approved treatment for individuals homozygous for this mutation combines a chemical corrector, which helps CFTR fold, and a potentiator that increases CFTR channel activity.

  9. Unusual occurrence of cystic fibrosis and alobar holoprosencephaly.

    PubMed

    Cherian, Mathew P; Al-Sanna'a, Nouriya A

    2008-04-01

    Holoprosencephaly (HPE) is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly, or cleft-lip/palate. Significant etiological heterogeneity exists in HPE and includes both genetic and environmental causes. Maternal diabetes is a well-established environmental factor with a significant increased risk for HPE. We report on a Saudi Arab girl born to a diabetic mother, with the alobar type of holoprosencephaly, associated with very minimal cranio-facial defects. However, she displayed several other congenital malformations. In addition, she was diagnosed with cystic fibrosis. Simultaneous occurrence of cystic fibrosis and congenital anomalies has been rare. PMID:21063314

  10. Endocrine Disorders in Cystic Fibrosis.

    PubMed

    Blackman, Scott M; Tangpricha, Vin

    2016-08-01

    Cystic fibrosis is frequently complicated by endocrine disorders. Diabetes can be expected to affect most with CF and pancreatic insufficiency and varies widely in age of onset, but early identification and treatment improve morbidity and mortality. Short stature can be exacerbated by relative delay of puberty and by use of inhaled corticosteroids. Bone disease in CF causes fragility fractures and should be assessed by monitoring bone mineral density and optimizing vitamin D status. Detecting and managing endocrine complications in CF can reduce morbidity and mortality in CF. These complications can be expected to become more common as the CF population ages. PMID:27469183

  11. An unusual retroperitoneal cystic tumor.

    PubMed

    Salinas Sánchez, A S; Lorenzo Romero, J G; Segura Martín, M; Hernández Millán, I R; Pastor Guzmán, J M; Virseda Rodríguez, J A

    2000-01-01

    This report describes a case of textiloma (term given to an inflammatory swelling caused by a retained textile foreign body) in a 60-year-old patient who had undergone surgery for a perforated gastroduodenal ulcer 17 years earlier. On examination the presence of a large mass was detected on the left hypochondria. A CT scan confirmed a cystic tumor with images suggesting detritus or necrosis in its lower part, as well as calcifications. Transperitoneal midline laparotomy was performed with extension by thoracophrenolaparotomy. Splenectomy was necessary. Macroscopic examination showed a spherical mass. After opening the tumor, retained surgical gauze was found. The histopathological diagnosis was granulomatosis reaction to a foreign body.

  12. Potential shift correction in multivariate curve resolution of voltammetric data. General formulation and application to some experimental systems.

    PubMed

    Alberich, Arístides; Díaz-Cruz, José Manuel; Ariño, Cristina; Esteban, Miquel

    2008-01-01

    A new mathematical algorithm is proposed to correct the progressive potential shift of some voltammetric signals that decrease the linearity of the data. The corrected data matrix can be further analysed by Multivariate Curve Resolution by Alternating Least Squares (MCR-ALS) and the vector including the potential shift corrections can be fitted to specific equations such as that by DeFord-Hume. A detailed discussion is given on the different cases of potential shift correction, and, in some of them, mathematical simulation is made or experimental systems [Cd(ii)-glutathione and Zn(ii)-glycine] are analysed.

  13. Improving hydrological loading data by reallocation of global river storage variation from generalized global hydrological models on high-resolution geo-referenced river pathways

    NASA Astrophysics Data System (ADS)

    Dill, Robert; Kopelke, Markus

    2014-05-01

    Non-tidal loading processes due to variations in terrestrial water storage cause vertical crustal displacements of several millimeters on subdaily to seasonal time scales. Locally strong loading signals with exceptionally high amplitudes occur along the major river channels. As the horizontal resolution of water mass distributions from global hydrological models are generally limited to 0.5x0.5 degree, their hydrological loading contributions cannot be properly estimated. Moreover, the model river network is not necessarily coallocated with the real river paths. To improve hydrological loading estimates caused by the water masses stored in the modeled river flow for stations at the river banks, like at Manaus where peak-to peak height variations of 70mm are observed, these masses have to be reallocated on a higher resolution river network. By introducing high-resolution river network informations from geoinformation system data bases we will demonstrate the generation of a high-resolution river storage data set suitable for calculating hydrological loading estimates for geodectic station in near-river locations.

  14. A general strategy for developing cell-permeable photo-modulatable organic fluorescent probes for live-cell super-resolution imaging

    PubMed Central

    Pan, Deng; Hu, Zhe; Qiu, Fengwu; Huang, Zhen-Li; Ma, Yilong; Wang, Yina; Qin, Lingsong; Zhang, Zhihong; Zeng, Shaoqun; Zhang, Yu-Hui

    2014-01-01

    Single-molecule localization microscopy (SMLM) achieves super-resolution imaging beyond the diffraction limit but critically relies on the use of photo-modulatable fluorescent probes. Here we report a general strategy for constructing cell-permeable photo-modulatable organic fluorescent probes for live-cell SMLM by exploiting the remarkable cytosolic delivery ability of a cell-penetrating peptide (rR)3R2. We develop photo-modulatable organic fluorescent probes consisting of a (rR)3R2 peptide coupled to a cell-impermeable organic fluorophore and a recognition unit. Our results indicate that these organic probes are not only cell permeable but can also specifically and directly label endogenous targeted proteins. Using the probes, we obtain super-resolution images of lysosomes and endogenous F-actin under physiological conditions. We resolve the dynamics of F-actin with 10 s temporal resolution in live cells and discern fine F-actin structures with diameters of ~80 nm. These results open up new avenues in the design of fluorescent probes for live-cell super-resolution imaging. PMID:25410769

  15. A Variable-Resolution Stretched-Grid General Circulation Model and Data Assimilation System with Multiple Areas of Interest: Studying the Anomalous Regional Climate Events of 1998

    NASA Technical Reports Server (NTRS)

    Fox-Rabinovitz, Michael S.; Takacs, Lawrence; Govindaraju, Ravi C.; Atlas, Robert (Technical Monitor)

    2002-01-01

    The new stretched-grid design with multiple (four) areas of interest, one at each global quadrant, is implemented into both a stretched-grid GCM (general circulation model) and a stretched-grid data assimilation system (DAS). The four areas of interest include: the U.S./Northern Mexico, the El Nino area/Central South America, India/China, and the Eastern Indian Ocean/Australia. Both the stretched-grid GCM and DAS annual (November 1997 through December 1998) integrations are performed with 50 km regional resolution. The efficient regional down-scaling to mesoscales is obtained for each of the four areas of interest while the consistent interactions between regional and global scales and the high quality of global circulation, are preserved. This is the advantage of the stretched-grid approach. The global variable resolution DAS incorporating the stretched-grid GCM has been developed and tested as an efficient tool for producing regional analyses and diagnostics with enhanced mesoscale resolution. The anomalous regional climate events of 1998 that occurred over the U.S., Mexico, South America, China, India, African Sahel, and Australia are investigated in both simulation and data assimilation modes. Tree assimilated products are also used, along with gauge precipitation data, for validating the simulation results. The obtained results show that the stretched-grid GCM and DAS are capable of producing realistic high quality simulated and assimilated products at mesoscale resolution for regional climate studies and applications.

  16. Aspergillus infections in cystic fibrosis.

    PubMed

    King, Jill; Brunel, Shan F; Warris, Adilia

    2016-07-01

    Patients with cystic fibrosis (CF) suffer from chronic lung infection and airway inflammation. Respiratory failure secondary to chronic or recurrent infection remains the commonest cause of death and accounts for over 90% of mortality. Bacteria as Staphylococcus aureus, Pseudomonas aeruginosa and Burkholderia cepacia complex have been regarded the main CF pathogens and their role in progressive lung decline has been studied extensively. Little attention has been paid to the role of Aspergillus spp. and other filamentous fungi in the pathogenesis of non-ABPA (allergic bronchopulmonary aspergillosis) respiratory disease in CF, despite their frequent recovery in respiratory samples. It has become more apparent however, that Aspergillus spp. may play an important role in chronic lung disease in CF. Research delineating the underlying mechanisms of Aspergillus persistence and infection in the CF lung and its link to lung deterioration is lacking. This review summarizes the Aspergillus disease phenotypes observed in CF, discusses the role of CFTR (cystic fibrosis transmembrane conductance regulator)-protein in innate immune responses and new treatment modalities. PMID:27177733

  17. Pseudomonas siderophores in the sputum of patients with cystic fibrosis.

    PubMed

    Martin, Lois W; Reid, David W; Sharples, Katrina J; Lamont, Iain L

    2011-12-01

    The lungs of patients with cystic fibrosis become chronically infected with the bacterium Pseudomonas aeruginosa, which heralds progressive lung damage and a decline in health. Iron is a crucial micronutrient for bacteria and its acquisition is a key factor in infection. P. aeruginosa can acquire this element by secreting pyoverdine and pyochelin, iron-chelating compounds (siderophores) that scavenge iron and deliver it to the bacteria. Siderophore-mediated iron uptake is generally considered a key factor in the ability of P. aeruginosa to cause infection. We have investigated the amounts of pyoverdine in 148 sputum samples from 36 cystic fibrosis patients (30 infected with P. aeruginosa and 6 as negative controls). Pyoverdine was present in 93 samples in concentrations between 0.30 and 51 μM (median 4.6 μM) and there was a strong association between the amount of pyoverdine and the number of P. aeruginosa present. However, pyoverdine was not present, or below the limits of detection (~0.3 μM), in 21 sputum samples that contained P. aeruginosa. Pyochelin was also absent, or below the limits of detection (~1 μM), in samples from P. aeruginosa-infected patients with little or no detectable pyoverdine. Our data show that pyoverdine is an important iron-scavenging molecule for P. aeruginosa in many cystic fibrosis patients, but other P. aeruginosa iron-uptake systems must be active in some patients to satisfy the bacterial need for iron. PMID:21643731

  18. Giant cystic pheochromocytoma: A silent entity

    PubMed Central

    Gupta, Amit; Bains, Lovenish; Agarwal, Manish Kumar; Gupta, Renu

    2016-01-01

    Pheochromocytoma is a catecholamine secreting tumor that originate from chromaffin cells. Usually, it is solid neoplasm of the adrenal medulla, however cystic pheochromocytoma is a rare neuro-endocrine tumour that is frequently asymptomatic and often diagnosed incidentally on imaging or intra-operatively. Only a few cases of cystic pheochromocytomas have been reported in the world literature. We present a case of giant cystic pheochromocytoma in a 65 years old lady who presented with a large retroperitoneal lump, which is probably the world's third largest pheochromocytoma as per the available indexed literature. PMID:27453669

  19. Giant cystic pheochromocytoma: A silent entity.

    PubMed

    Gupta, Amit; Bains, Lovenish; Agarwal, Manish Kumar; Gupta, Renu

    2016-01-01

    Pheochromocytoma is a catecholamine secreting tumor that originate from chromaffin cells. Usually, it is solid neoplasm of the adrenal medulla, however cystic pheochromocytoma is a rare neuro-endocrine tumour that is frequently asymptomatic and often diagnosed incidentally on imaging or intra-operatively. Only a few cases of cystic pheochromocytomas have been reported in the world literature. We present a case of giant cystic pheochromocytoma in a 65 years old lady who presented with a large retroperitoneal lump, which is probably the world's third largest pheochromocytoma as per the available indexed literature.

  20. Heart involvement in cystic fibrosis: A specific cystic fibrosis-related myocardial changes?

    PubMed

    Labombarda, Fabien; Saloux, Eric; Brouard, Jacques; Bergot, Emmanuel; Milliez, Paul

    2016-09-01

    Cystic fibrosis is a complex multi-systemic chronic disease characterized by progressive organ dysfunction with development of fibrosis, possibly affecting the heart. Over the last four decades pathological, experimental, and clinical evidence points towards the existence of a specific myocardial involvement in cystic fibrosis. Multi-modality cardiac imaging, especially recent echocardiographic techniques, evidenced diastolic and/or systolic ventricular dysfunction in cystic fibrosis leading to the concept of a cystic fibrosis-related cardiomyopathy. Hypoxemia and inflammation are among the most important factors for heart involvement in cystic fibrosis. Cystic Fibrosis Transmembrane Regulator was found to be involved in the regulation of cardiomyocyte contraction and may also account for cystic fibrosis-related myocardial dysfunction. This review, mainly focused on echocardiographic studies, seeks to synthesize the existing literature for and against the existence of heart involvement in cystic fibrosis, its mechanisms and prognostic implications. Careful investigation of the heart function may be helpful for risk stratification and therapeutic decisions in patients with cystic fibrosis.

  1. Heart involvement in cystic fibrosis: A specific cystic fibrosis-related myocardial changes?

    PubMed

    Labombarda, Fabien; Saloux, Eric; Brouard, Jacques; Bergot, Emmanuel; Milliez, Paul

    2016-09-01

    Cystic fibrosis is a complex multi-systemic chronic disease characterized by progressive organ dysfunction with development of fibrosis, possibly affecting the heart. Over the last four decades pathological, experimental, and clinical evidence points towards the existence of a specific myocardial involvement in cystic fibrosis. Multi-modality cardiac imaging, especially recent echocardiographic techniques, evidenced diastolic and/or systolic ventricular dysfunction in cystic fibrosis leading to the concept of a cystic fibrosis-related cardiomyopathy. Hypoxemia and inflammation are among the most important factors for heart involvement in cystic fibrosis. Cystic Fibrosis Transmembrane Regulator was found to be involved in the regulation of cardiomyocyte contraction and may also account for cystic fibrosis-related myocardial dysfunction. This review, mainly focused on echocardiographic studies, seeks to synthesize the existing literature for and against the existence of heart involvement in cystic fibrosis, its mechanisms and prognostic implications. Careful investigation of the heart function may be helpful for risk stratification and therapeutic decisions in patients with cystic fibrosis. PMID:27578468

  2. Chronic pancreatitis and cystic fibrosis

    PubMed Central

    Witt, H

    2003-01-01

    Recent discoveries of trypsinogen and trypsin inhibitor mutations in patients with chronic pancreatitis (CP) support the hypothesis that an inappropriate activation of pancreatic zymogens to active enzymes within the pancreatic parenchyma starts the inflammatory process. Current data suggest that CP may be inherited dominant, recessive, or complex as a result of mutations in the above mentioned or yet unidentified genes. Evaluation of patients with CP should include genetic testing. Cystic fibrosis (CF) is an autosomal recessive inherited disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene and is characterised by pancreatic insufficiency and chronic bronchopulmonary infection. The progression and severity of pulmonary disease differs considerably between people with identical CFTR mutations and does not seem to correlate with the type or class of the CFTR mutation. The identification of further disease modifying genetic factors will increase the pathophysiological understanding and may help to identify new therapeutic targets. PMID:12651880

  3. Cystic echinococcosis in southern Brazil.

    PubMed

    de la Rue, Mario L

    2008-01-01

    Cystic echinococcosis (CE) is very common in the southern part of Rio Grande do Sul State where sheep and cattle raising is the most important economical activity. Prevalence in intermediate hosts is well known due to reports in slaughterhouses while human reports are of discussed value. This is due to underreporting of cases and few epidemiological studies make it difficult to assess the situation of echinococcosis in the population. Whereas cattle infection rate is more or less stable around 12% of the slaughter animals, in sheep there has been an increasing number in the last five years. Some efforts have been done to control the zoonosis but no effective results were obtained so far. Probably educational efforts to change human practices (feeding dogs with raw viscera), periodic treatment of dogs with praziquantel and joined actions with slaughterhouses could bring more attention to improve some control measures.

  4. Allergic bronchopulmonary aspergillosis in cystic fibrosis. A European epidemiological study. Epidemiologic Registry of Cystic Fibrosis.

    PubMed

    Mastella, G; Rainisio, M; Harms, H K; Hodson, M E; Koch, C; Navarro, J; Strandvik, B; McKenzie, S G

    2000-09-01

    Allergic bronchopulmonary aspergillosis (ABPA) is a disease resulting from a hypersensitivity response to Aspergillus fumigatus, although the pathogenesis of the disease is unknown and its prevalence in cystic fibrosis (CF) is still poorly defined. Data from the Epidemiologic Registry of Cystic Fibrosis (ERCF) on 12,447 CF patients gathered from 224 CF centres in nine European countries were analysed. The ERCF definition of ABPA diagnosis is a positive skin test and serum precipitins to A. fumigatus, together with serum immunoglobulin (Ig)E levels >1,000 U x mL(-1) and additional clinical or laboratory parameters. The overall prevalence of ABPA in the ERCF population was 7.8% (range: 2.1% in Sweden to 13.6% in Belgium). Prevalence was low <6 yrs of age but was almost constant approximately 10% thereafter. No sex differences were observed. ABPA affected 8.0% of patients with a deltaF508/deltaF508 genotype and 5-6% with deltaF508/G551D, deltaF508/G542X and deltaF508/N1303K genotypes. ABPA patients presented a lower forced expiratory volume in one second (FEV1) than those without ABPA at any age and the prevalence ranged from 6.6% in patients with FEV1 > or =20-12.9% in those with FEV1 <40%. ABPA was associated with higher rates of microbial colonization, pneumothorax and massive haemoptysis, and with higher IgG serum levels and poorer nutritional status. A mixed model regression analysis of lung function showed that FEVI decline during the follow-up period was not substantially different in ABPA patients compared with non-ABPA patients for any subgroups based on age or disease severity at enrollment. To conclude, allergic bronchopulmonary aspergillosis is a frequent complication in cystic fibrosis patients, particularly after the age of 6 yrs, and it is generally associated with a poorer clinical condition. However, any clear independent influence of allergic bronchopulmonary aspergillosis on the rate of lung function decline in the short term was not shown.

  5. Radiological description of cystic pancreatic tumors.

    PubMed

    Rodríguez Torres, C; Larrosa López, R

    2016-01-01

    Although most cystic pancreatic lesions are pseudocysts, it is important to do a thorough differential diagnosis with true cystic tumors because cystic tumors are potentially malignant. Sometimes computed tomography and magnetic resonance imaging cannot establish the definitive diagnosis, making it necessary to perform other imaging tests such as endoscopic ultrasound, which in addition to morphological information, can also enable cytologic and biochemical analysis of the lesion through puncture and aspiration of its contents. Combining all these findings nearly always provides enough diagnostic information to allow the appropriate approach in each case. This article describes the specific morphological characteristics for each cystic pancreatic tumor on computed tomography, magnetic resonance imaging, and endoscopic ultrasound and reviews the guidelines for managing these types of lesions.

  6. Laparoscopic observation of retroperitoneal cystic lymphangioma.

    PubMed

    Takeuchi, Y; Fujinami, S; Kitagawa, S; Shiro, T; Fujii, T; Fukui, Y; Kawashima, Y; Kubota, Y; Shiozaki, Y; Inoue, K

    1994-01-01

    A case of retroperitoneal cystic lymphangioma observed laparoscopically is reported. In a 60 year old asymptomatic male patient, an 8 cm multi-loculated cystic lesion was detected incidentally near the splenic hilum with ultrasonography. Endosonography, computed tomography and magnetic resonance imaging revealed the lesion with thin wall and clear fluid. Laparoscopy showed a thin-walled cyst with smooth surface, and straw-coloured clear fluid was observed through the wall. These findings suggested benign aetiology, and seemed to be characteristic of cystic lymphangioma. The tumour was resected, and microscopic examination showed proliferated lymph channels intespersed by lymph follicles. Diagnosis of cystic lymphangioma was established. Laparoscopy seems a useful pre-operative method.

  7. Precision Genomic Medicine in Cystic Fibrosis.

    PubMed

    Chang, Eugene H; Zabner, Joseph

    2015-10-01

    The successful application of precision genomic medicine requires an understanding of how a person's genome can influence his or her disease phenotype and how medical therapies can provide personalized therapy to one's genotype. In this review, we highlight advances in precision genomic medicine in cystic fibrosis (CF), a classic autosomal recessive genetic disorder. We discuss genotype-phenotype correlations in CF, genetic and environmental modifiers of disease, and pharmacogenetic therapies that target specific genetic mutations thereby addressing the primary defect of cystic fibrosis.

  8. Cervical Cystic Hygroma in an Adult

    PubMed Central

    Derin, Serhan; Şahan, Murat; Dere, Yelda; Çullu, Neşat; Şahan, Leyla

    2014-01-01

    Cystic hygromas/lymphangiomas are extremely rare malformations in adults. They are usually seen in infants and children under 2 years of age. En bloc resection is difficult due to the adhesive characteristics of the tumors. Inadequate surgical intervention often leads to recurrent disease. We report herein the case of a cystic hygroma/lymphangioma that presented as an uncommon mass on the cervical region in an adult, together with its histopathological, radiologic, and operative features. PMID:25548704

  9. Cervical cystic hygroma in an adult.

    PubMed

    Derin, Serhan; Şahan, Murat; Dere, Yelda; Çullu, Neşat; Şahan, Leyla

    2014-01-01

    Cystic hygromas/lymphangiomas are extremely rare malformations in adults. They are usually seen in infants and children under 2 years of age. En bloc resection is difficult due to the adhesive characteristics of the tumors. Inadequate surgical intervention often leads to recurrent disease. We report herein the case of a cystic hygroma/lymphangioma that presented as an uncommon mass on the cervical region in an adult, together with its histopathological, radiologic, and operative features. PMID:25548704

  10. [Cystic degeneration of autonomous adenomas (author's transl)].

    PubMed

    Galvan, G; Pohl, G B

    1976-01-01

    Follow-up examinations in four patients with autonomous adenomas showed cystic degeneration in the autonomous adenomas 20 to 45 months after the first examination, confirmed by fine needle biopsy. Clinical improvement occurred three times with scintigraphic compensation, decompensation occurred once without clinical deterioration. In particular cases a therapeutic policy of wait and see is justified in patients with autonomous adenomas because they may remain clinically inconspicuous for a long time; on the other hand there is a possibility of a cystic degeneration.

  11. Intracystic Therapies for Cystic Craniopharyngioma in Childhood

    PubMed Central

    Bartels, Ute; Laperriere, Normand; Bouffet, Eric; Drake, James

    2011-01-01

    Introduction: Craniopharyngioma of childhood are commonly cystic in nature. An intracystic catheter insertion and subsequent instillation of substances inducing cyst shrinkage seems a beneficial strategy avoiding additional morbidity in a highly vulnerable brain location. Methods: A systematic review of the medical literature was performed to identify potentially relevant, all languages articles using Ovid MEDLINE and EMBASE from inception to July 2011 and Cochrane Central Register of Controlled Trials to third quarter 2011. All references were examined for relevancy. Results: Of 142 unique references, 71 referred to substances used for intracystic craniopharyngioma treatment. General aspects of intracystic catheter insertion as well as response rates, risks, and outcomes of children treated with intracystic radioisotopes, bleomycin, and interferon (IFN) are critically reviewed and an outline for potential future endeavors provided. Conclusion: IFN seems currently the intracystic substance with the best benefit risk ratio. The authors advocate for consensus on prospective data collection and standardized intracystic treatment strategies to allow reliable comparisons and herewith optimize treatment and outcome. PMID:22654864

  12. [Therapy-resistant aggressive cystic lesion of the mandible].

    PubMed

    Ziegler, C M; Bergstrand, S; Lund, J-A; Viset, T

    2011-10-01

    Several extensive surgical interventions of a cystic lesion in the left mandible were followed by recurrences. The lesion extended from the primary mandibular region into the area of pterygopalatine fossa finally infiltrating the orbital region and the skull base. Histological results could never demonstrate a malignancy with certainty. Due to the patient's poor general condition, the refusal for further surgical inventions and due to the malignoma-like growth pattern radiation treatment was performed. However, this had no effect on tumor progression. PMID:21845481

  13. Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study

    PubMed Central

    2014-01-01

    Introduction Cystic fibrosis is the most common autosomal recessive genetic disease in the Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing. Methods This study reports the results of a molecular screening of cystic fibrosis using DNA samples of patients enrolled from January 2009 to December 2013. Patients were referred to our laboratory for cystic fibrosis screening for infertile couples. In addition, we identified the gene mutations present in 76 patients affected by cystic fibrosis in the pediatric population of Basilicata. Results In the 964 infertile couples examined, 132 subjects (69 women and 63 men) resulted heterozygous for one of the CFTR mutations, with a recurrence of carriers of 6.85%. The recurrence of carriers in infertile couples is significantly higher from the hypothetical value of the general population (4%). Conclusions This study shows that in the Basilicata region of Italy the CFTR phenotype is caused by a small number of mutations. Our aim is to develop a kit able to detect not less than 96% of CTFR gene mutations so that the relative risk for screened couples is superimposable with respect to the general population. PMID:25304080

  14. Surgical outcome in cystic vestibular schwannomas

    PubMed Central

    Nair, Suresh; Baldawa, Sachin S.; Gopalakrishnan, Chittur Viswanathan; Menon, Girish; Vikas, Vazhayil; Sudhir, Jayanand B.

    2016-01-01

    Background: Cystic vestibular schwannomas (VS) form a rare subgroup that differs from the solid variant clinically, radiologically, and histopathologically. These tumors also vary in their surgical outcome and carry a different risk of post-operative complications. We analyzed our series of 64 patients with cystic VS and discuss the technical difficulties related to total excision of these tumors and focus on complication avoidance. Materials and Methods: A retrospective review of cystic VS surgically managed over a span of 11 years. The case records were evaluated to record the clinical symptoms and signs, imaging findings, surgical procedure, complications, and follow-up data. Post-operative facial nerve palsy was analyzed with respect to tumor size and tumor type. Results: Progressive hearing impairment was the most common initial symptom (76.6%). Atypical initial symptoms were present in 15 patients (23.4%). Preoperatively, 78% patients had good facial nerve function (HB grade 1, 2) and 22% had intermediate (HB grade 3, 4) to poor (HB grade 5 and 6) function. Mean tumor size was 4.1 cm. Complete tumor removal was achieved in 53 patients (83%). The facial nerve was anatomically intact but thinned out after tumor excision in 38 patients (59.4%). Ninety percent patients had either intermediate or poor facial nerve function at follow-up. Poor facial nerve outcome was associated with giant tumors and peripherally located, thin-walled cystic tumors. Conclusion: Resection of cystic VS is complicated by peritumoral adhesions of the capsule to the nerve. Extensive manipulation of the nerve in order to dissect the tumor–nerve barrier results in worse facial nerve outcome. The outcome is worse in peripherally located, thin-walled cystic VS as compared to centrally located, thick-walled cystic tumors. Subtotal excision may be justified, especially in tumors with dense adhesion of the cyst wall to the facial nerve in order to preserve nerve integrity. PMID:27366248

  15. Neural correlates of specific and general Pavlovian-to-Instrumental Transfer within human amygdalar subregions: a high-resolution fMRI study.

    PubMed

    Prévost, Charlotte; Liljeholm, Mimi; Tyszka, Julian M; O'Doherty, John P

    2012-06-13

    It is widely held that the interaction between instrumental and Pavlovian conditioning induces powerful motivational biases. Pavlovian-Instrumental Transfer (PIT) is one of the key paradigms demonstrating this effect, which can further be decomposed into a general and specific component. Although these two forms of PIT have been studied at the level of amygdalar subregions in rodents, it is still unknown whether they involve different areas of the human amygdala. Using a high-resolution fMRI (hr-fMRI) protocol optimized for the amygdala in combination with a novel free operant task designed to elicit effects of both general and specific PIT, we demonstrate that a region of ventral amygdala within the boundaries of the basolateral complex and the ventrolateral putamen are involved in specific PIT, while a region of dorsal amygdala within the boundaries of the centromedial complex is involved in general PIT. These results add to a burgeoning literature indicating different functional contributions for these different amygdalar subregions in reward-processing and motivation.

  16. 3-D multi-observable probabilistic inversion for the compositional and thermal structure of the lithosphere and upper mantle. II: General methodology and resolution analysis

    NASA Astrophysics Data System (ADS)

    Afonso, J. C.; Fullea, J.; Yang, Y.; Connolly, J. A. D.; Jones, A. G.

    2013-04-01

    Here we present a 3-D multi-observable probabilistic inversion method, particularly designed for high-resolution (regional) thermal and compositional mapping of the lithosphere and sub-lithospheric upper mantle that circumvents the problems associated with traditional inversion methods. The key aspects of the method are as follows: (a) it exploits the increasing amount and quality of geophysical datasets; (b) it combines multiple geophysical observables (Rayleigh and Love dispersion curves, body-wave tomography, magnetotelluric, geothermal, petrological, gravity, elevation, and geoid) with different sensitivities to deep/shallow, thermal/compositional anomalies into a single thermodynamic-geophysical framework; (c) it uses a general probabilistic (Bayesian) formulation to appraise the data; (d) no initial model is needed; (e) compositional a priori information relies on robust statistical analyses of a large database of natural mantle samples; and (f) it provides a natural platform to estimate realistic uncertainties. In addition, the modular nature of the method/algorithm allows for incorporating or isolating specific forward operators according to available data. The strengths and limitations of the method are thoroughly explored with synthetic models. It is shown that the a posteriori probability density function (i.e., solution to the inverse problem) satisfactorily captures spatial variations in bulk composition and temperature with high resolution, as well as sharp discontinuities in these fields. Our results indicate that only temperature anomalies of ΔT ⪆150°C and large compositional anomalies of ΔMg# > 3 (or bulk ΔAl2O3 > 1.5) can be expected to be resolved simultaneously when combining high-quality geophysical data. This resolving power is sufficient to explore some long-standing problems regarding the nature and evolution of the lithosphere (e.g., vertical stratification of cratonic mantle, compositional versus temperature signatures in seismic

  17. Radiation-induced bilateral cystic temporal lobe necrosis: Reversal of memory deficit after fenestration and internal shunting. Case report

    SciTech Connect

    Bederson, J.B.; Harsh GR 4; Walker, J.A.; Wilson, C.B. )

    1990-03-01

    The authors report a case in which bilateral cystic temporal lobe necrosis developed after treatment of nasopharyngeal lymphoepithelioma with 7000 cGy of external beam radiation. The patient presented with an isolated memory deficit that was documented by neuropsychological testing. After fenestration and internal shunting of both cysts, there was striking resolution of the lesions and of the memory deficit.

  18. Molecular epidemiology of cystic echinococcosis.

    PubMed

    McManus, D P; Thompson, R C A

    2003-01-01

    Echinococcus granulosus exhibits substantial genetic diversity that has important implications for the design and development of vaccines, diagnostic reagents and drugs effective against this parasite. DNA approaches that have been used for accurate identification of these genetic variants are presented here as is a description of their application in molecular epidemiological surveys of cystic echinococcosis in different geographical settings and host assemblages. The recent publication of the complete sequences of the mitochondrial (mt) genomes of the horse and sheep strains of E. granulosus and of E. multilocularis, and the availability of mt DNA sequences for a number of other E. granulosus genotypes, has provided additional genetic information that can be used for more in depth strain characterization and taxonomic studies of these parasites. This very rich sequence information has provided a solid molecular basis, along with a range of different biological, epidemiological, biochemical and other molecular-genetic criteria, for revising the taxonomy of the genus Echinococcus. This has been a controversial issue for some time. Furthermore, the accumulating genetic data may allow insight to several other unresolved questions such as confirming the occurrence and precise nature of the E. granulosus G9 genotype and its reservoir in Poland, whether it is present elsewhere, why the camel strain (G6 genotype) appears to affect humans in certain geographical areas but not others, more precise delineation of the host and geographic ranges of the genotypes characterised to date, and whether additional genotypes of E. granulosus remain to be identified. PMID:15042999

  19. Respiratory Conditions Update: Cystic Fibrosis.

    PubMed

    Pritchard, Lyle L

    2016-09-01

    Cystic fibrosis (CF) is an autosomal recessive genetic disease that occurs in approximately 1 in 2,500 white live births. It is less common in nonwhite individuals. A dysfunctional epithelial chloride channel leads to excessively thick mucus affecting multiple organ systems. Common issues include mucous plugging of the airway, lung inflammation, chronic pulmonary infections, intestinal malabsorption, and malnutrition. Universal screening of newborns for CF is recommended in many countries. CF can be diagnosed based on clinical evidence of disease along with genetic testing or other laboratory evidence of chloride channel dysfunction. Pulmonary system dysfunction causes the most morbidity and mortality. Pulmonary function testing is the primary modality used to monitor CF progression. Therapies include chest physiotherapy, mucolytics, antibiotics, anti-inflammatory drugs, targeted therapies, and vaccines. Dysfunction of the exocrine pancreas and gastrointestinal tract leads to malabsorption, malnutrition, and intestinal obstruction. Nutrition should be optimized with adequate calories, pancreatic enzymes, and appropriate dietary supplements. Complications, including acute pulmonary exacerbations, gastrointestinal conditions, chronic rhinosinusitis, CF-related diabetes, osteoporosis, infertility, and psychosocial issues, must be managed. At the appropriate time, lung transplantation and end-of-life issues must be addressed. PMID:27576234

  20. Lung Transplantation for Cystic Fibrosis

    PubMed Central

    Adler, Frederick R.; Aurora, Paul; Barker, David H.; Barr, Mark L.; Blackwell, Laura S.; Bosma, Otto H.; Brown, Samuel; Cox, D. R.; Jensen, Judy L.; Kurland, Geoffrey; Nossent, George D.; Quittner, Alexandra L.; Robinson, Walter M.; Romero, Sandy L.; Spencer, Helen; Sweet, Stuart C.; van der Bij, Wim; Vermeulen, J.; Verschuuren, Erik A. M.; Vrijlandt, Elianne J. L. E.; Walsh, William; Woo, Marlyn S.; Liou, Theodore G.

    2009-01-01

    Lung transplantation is a complex, high-risk, potentially life-saving therapy for the end-stage lung disease of cystic fibrosis (CF). The decision to pursue transplantation involves comparing the likelihood of survival with and without transplantation as well as assessing the effect of wait-listing and transplantation on the patient's quality of life. Although recent population-based analyses of the US lung allocation system for the CF population have raised controversies about the survival benefits of transplantation, studies from the United Kingdom and Canada have suggested a definite survival advantage for those receiving transplants. In response to these and other controversies, leaders in transplantation and CF met together in Lansdowne, Virginia, to consider the state of the art in lung transplantation for CF in an international context, focusing on advances in surgical technique, measurement of outcomes, use of prognostic criteria, variations in local control over listing, and prioritization among the United States, Canada, the United Kingdom, and The Netherlands, patient adherence before and after transplantation and other issues in the broader context of lung transplantation. Finally, the conference members carefully considered how efforts to improve outcomes for lung transplantation for CF lung disease might best be studied. This Roundtable seeks to communicate the substance of our discussions. PMID:20008865

  1. Evaluation of hepatic cystic lesions

    PubMed Central

    Lantinga, Marten A; Gevers, Tom JG; Drenth, Joost PH

    2013-01-01

    Hepatic cysts are increasingly found as a mere coincidence on abdominal imaging techniques, such as ultrasonography (USG), computed tomography (CT) and magnetic resonance imaging (MRI). These cysts often present a diagnostic challenge. Therefore, we performed a review of the recent literature and developed an evidence-based diagnostic algorithm to guide clinicians in characterising these lesions. Simple cysts are the most common cystic liver disease, and diagnosis is based on typical USG characteristics. Serodiagnostic tests and microbubble contrast-enhanced ultrasound (CEUS) are invaluable in differentiating complicated cysts, echinococcosis and cystadenoma/cystadenocarcinoma when USG, CT and MRI show ambiguous findings. Therefore, serodiagnostic tests and CEUS reduce the need for invasive procedures. Polycystic liver disease (PLD) is arbitrarily defined as the presence of > 20 liver cysts and can present as two distinct genetic disorders: autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (PCLD). Although genetic testing for ADPKD and PCLD is possible, it is rarely performed because it does not affect the therapeutic management of PLD. USG screening of the liver and both kidneys combined with extensive family history taking are the cornerstone of diagnostic decision making in PLD. In conclusion, an amalgamation of these recent advances results in a diagnostic algorithm that facilitates evidence-based clinical decision making. PMID:23801855

  2. [Azithromycin therapy in cystic fibrosis].

    PubMed

    Máiz Carro, Luis; Cantón Moreno, Rafael

    2004-03-01

    Progressive lung disease, caused by chronic endobronchial colonization, is the major cause of morbidity and mortality in patients with cystic fibrosis (CF). Several pathogens, including Staphylococcus aureus and Pseudomonas aeruginosa are responsible for this effect. The steadily improving prognosis of CF has been attributed to the use of antibiotics with activity against these organisms. Despite a significant increase in the amount of published material demonstrating the potential role of macrolide antibiotics as antiinflammatory agents and their effects on bacterial virulence, their mechanism of action in CF patients is still unknown. Although there is a limited number of clinical trials assessing the efficacy and safety of azithromycin (AZM) in CF, increasing evidence suggests that 3 to 6-month AZM treatment in CF patients is safe and well tolerated. This treatment results in clinical improvement, decreasing the number of pulmonary exacerbations and increasing pulmonary function. Therefore, chronic treatment with AZM should be considered in CF patients added to conventional therapy. Clinical experience with macrolides other than AZM in CF patients is very limited. PMID:15030744

  3. An Ultrahigh Resolution Structure of TEM-1 beta-Lactamase Suggests a Role for Glu166 as the General Base in Acylation

    SciTech Connect

    Minasov, George; Wang, Xiaojun; Shoichet, Brian K.

    2010-03-08

    Although TEM-1 {beta}-lactamase is among the best studied enzymes, its acylation mechanism remains controversial. To investigate this problem, the structure of TEM-1 in complex with an acylation transition-state analogue was determined at ultrahigh resolution (0.85 {angstrom}) by X-ray crystallography. The quality of the data was such as to allow for refinement to an R-factor of 9.1% and an R{sub free} of 11.2%. In the resulting structure, the electron density features were clear enough to differentiate between single and double bonds in carboxylate groups, to identify multiple conformations that are occupied by residues and loops, and to assign 70% of the protons in the protein. Unexpectedly, even at pH 8.0 where the protein was crystallized, the active site residue Glu166 is clearly protonated. This supports the hypothesis that Glu166 is the general base in the acylation half of the reaction cycle. This structure suggests that Glu166 acts through the catalytic water to activate Ser70 for nucleophilic attack on the {beta}-lactam ring of the substrate. The hydrolytic mechanism of class A {beta}-lactamases, such as TEM-1, appears to be symmetrical, as are the serine proteases. Apart from its mechanistic implications, this atomic resolution structure affords an unusually detailed view of the structure, dynamics, and hydrogen-bonding networks of TEM-1, which may be useful for the design of inhibitors against this key antibiotic resistance target.

  4. CXCR4+ granulocytes reflect fungal cystic fibrosis lung disease.

    PubMed

    Carevic, Melanie; Singh, Anurag; Rieber, Nikolaus; Eickmeier, Olaf; Griese, Matthias; Hector, Andreas; Hartl, Dominik

    2015-08-01

    Cystic fibrosis airways are frequently colonised with fungi. However, the interaction of these fungi with immune cells and the clinical relevance in cystic fibrosis lung disease are incompletely understood.We characterised granulocytes in airway fluids and peripheral blood from cystic fibrosis patients with and without fungal colonisation, non-cystic fibrosis disease controls and healthy control subjects cross-sectionally and longitudinally and correlated these findings with lung function parameters.Cystic fibrosis patients with chronic fungal colonisation by Aspergillus fumigatus were characterised by an accumulation of a distinct granulocyte subset, expressing the HIV coreceptor CXCR4. Percentages of airway CXCR4(+) granulocytes correlated with lung disease severity in patients with cystic fibrosis.These studies demonstrate that chronic fungal colonisation with A. fumigatus in cystic fibrosis patients is associated with CXCR4(+) airway granulocytes, which may serve as a potential biomarker and therapeutic target in fungal cystic fibrosis lung disease. PMID:25929952

  5. Genetics Home Reference: medullary cystic kidney disease type 1

    MedlinePlus

    ... disease type 1 medullary cystic kidney disease type 1 Enable Javascript to view the expand/collapse boxes. ... Close All Description Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the ...

  6. Rehabilitation with Cystic Fibrosis: From Utopia to Reality.

    ERIC Educational Resources Information Center

    Goldberg, Richard T.; And Others

    1980-01-01

    The paper dispels some of the myths regarding cystic fibrosis (a genetic metabolism disorder), provides information on the latest developments in rehabilitation, summarizes research in the field, and projects future needs of the patient with cystic fibrosis. (SBH)

  7. CXCR4+ granulocytes reflect fungal cystic fibrosis lung disease.

    PubMed

    Carevic, Melanie; Singh, Anurag; Rieber, Nikolaus; Eickmeier, Olaf; Griese, Matthias; Hector, Andreas; Hartl, Dominik

    2015-08-01

    Cystic fibrosis airways are frequently colonised with fungi. However, the interaction of these fungi with immune cells and the clinical relevance in cystic fibrosis lung disease are incompletely understood.We characterised granulocytes in airway fluids and peripheral blood from cystic fibrosis patients with and without fungal colonisation, non-cystic fibrosis disease controls and healthy control subjects cross-sectionally and longitudinally and correlated these findings with lung function parameters.Cystic fibrosis patients with chronic fungal colonisation by Aspergillus fumigatus were characterised by an accumulation of a distinct granulocyte subset, expressing the HIV coreceptor CXCR4. Percentages of airway CXCR4(+) granulocytes correlated with lung disease severity in patients with cystic fibrosis.These studies demonstrate that chronic fungal colonisation with A. fumigatus in cystic fibrosis patients is associated with CXCR4(+) airway granulocytes, which may serve as a potential biomarker and therapeutic target in fungal cystic fibrosis lung disease.

  8. Living with Cystic Fibrosis: A Guide for the Young Adult.

    ERIC Educational Resources Information Center

    Cystic Fibrosis Foundation, Atlanta, GA.

    Intended for the young adult with cystic fibrosis, the booklet provides information on dealing with problems and on advances in treatment and detection related to the disease. Addressed are the following topics: description of cystic fibrosis; inheritance of cystic fibrosis; early diagnosis; friends, careers, and other matters; treatment;…

  9. 78 FR 26681 - Medical Criteria for Evaluating Cystic Fibrosis

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-07

    ... ADMINISTRATION RIN 0960-AF58 Medical Criteria for Evaluating Cystic Fibrosis AGENCY: Social Security....04 to evaluate claims involving cystic fibrosis in adults and children under titles II and XVI of the... information on the disability program. 2. Information for individuals with cystic fibrosis who apply...

  10. Premalignant cystic neoplasms of the pancreas.

    PubMed

    Dudeja, Vikas; Allen, Peter J

    2015-02-01

    Due to increasing utilization of cross-sectional imaging, asymptomatic pancreatic cysts are frequently being diagnosed. Many of these cysts have premalignant potential and offer a unique opportunity for cancer prevention. Mucinous cystic neoplasm and intraductal papillary mucinous neoplasm are the major premalignant cystic neoplasms of pancreas. The prediction of the risk of malignancy (incidental and future risk of malignant transformation) and balancing the risks of watchful waiting with that of operative management with associated mortality and morbidity is the key to the management of these lesions. We review the literature that has contributed to the development of our approach to the management of these cystic neoplasms. We provide an overview of the key features used in diagnosis and in predicting malignancy. Particular attention is given to the natural history and management decision making.

  11. Do brine shrimp diagnose cystic fibrosis?

    PubMed

    Hodes, M E; Thomas, J; Morgan, S; Merritt, A D

    1975-11-01

    The nauplii of the brine shrimp Artemia salina are dependent upon the function of their salt gland to maintain osmotic pressure within narrow limits. A number of drugs interfere with this function and are lethal to the nauplii. Saliva and serum from normal persons, patients with cystic fibrosis, and obligate heterozygotes were tested for lethal effect against brine shrimp nauplii. At salt concentrations between 100 mM and 2.5 no difference was found among the phenotypes. At lower concentrations a difference was noted occasionally between some normal subjects and some individuals carrying one or two genes for cystic fibrosis. Data from an independent series of experiments indicate that the naupliar deaths result from distorted ratios of Na+/K+ and not from a specific gene product. No difference was noted in the O2 uptake of nauplii treated with saliva or serum obtained from normal subjects, patients with cystic fibrosis, or obligate heterozygotes. PMID:1187245

  12. Florid cystic endosalpingiosis of the uterus

    PubMed Central

    Heatley, M; Russell, P

    2001-01-01

    A 73 year old woman presented with a right sided adnexal cystic mass. At laparotomy, this proved to be a benign serous ovarian cyst and an aggregation of thin walled subserosal and soft tissue cysts and spongy nodules up to 16 mm in diameter involving the side wall of the uterus and adjacent parametrium. These were removed by total abdominal hysterectomy and bilateral salpingo-oophorectomy. Histologically, the cystic spaces and smaller acini were lined by benign tubo-endometrioid epithelium, with smaller areas typical of serous differentiation and rare microfoci of endocervical-type mucinous epithelium. These features indicated multidirectional Mullerian differentiation in a process that, overall, was consistent with so called florid cystic endosalpingiosis. This lesion is to be distinguished from other benign conditions including multicystic mesothelioma, endometriosis, endocervicosis, florid deep glands of the uterine cervix, and deep Nabothian cysts of the uterine cervix. Key Words: uterus • endosalpingiosis • cysts PMID:11328842

  13. Intraabdominal cystic lymphangiomas obscured by marked superimposed reactive changes: clinicopathological analysis of a series.

    PubMed

    Hornick, Jason L; Fletcher, Christopher D M

    2005-04-01

    Cystic (or cavernous) lymphangiomas are uncommon tumors that most often occur in the head and neck, axilla, or groin of young children but are detected occasionally in adulthood at various other anatomic sites. When arising in the abdomen, cystic lymphangiomas may present with acute abdominal pain. We have encountered examples of mesenteric and retroperitoneal cystic lymphangiomas associated with such marked superimposed reactive and inflammatory changes that their lymphatic nature is obscured, a situation that is not widely recognized. To further characterize these lesions, 7 abdominal lymphangiomas associated with florid reactive changes were retrieved from the authors' consultation files. There were 5 female patients and 2 male patients (median age, 42 years; range, 1 month to 51 years). Five cases presented in adulthood. Tumor size ranged from 8 to 20 cm (median, 15 cm). Three tumors arose in the mesentery of the small intestine and 4 arose in the retroperitoneum (one of which also involved the posterior mediastinum). Three patients presented with a short history of abdominal pain. Radiological studies revealed large cystic or solid masses; clinical differential diagnoses included sarcoma (2 cases), enteric duplication cyst (2 cases), and cystic tumor not otherwise specified. Grossly, the tumors were generally multiloculated cystic masses associated with areas of fat necrosis and hemorrhage. The cysts often contained thick, gelatinous, or milky fluid. Histologically, all cases showed extensive areas of granulation tissue, most also including a floridly cellular reactive myofibroblastic proliferation, obscuring the lymphatic nature of the lesion. Two cases contained extensive areas of xanthogranulomatous inflammation. In foci where the underlying lesion could be discerned, the tumors were composed of cystically dilated lymphatic spaces, some of which were partially invested by a layer of smooth muscle and were associated with occasional lymphoid aggregates. The

  14. Genetics of Cystic Fibrosis: Clinical Implications.

    PubMed

    Egan, Marie E

    2016-03-01

    Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder caused by mutations in the gene that encodes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). Almost 2000 variants in the CFTR gene have been identified. The mutational classes are based on the functional consequences on CFTR. New therapies are being developed to target mutant CFTR and restore CFTR function. Understanding specific CF genotypes is essential for providing state-of-the art care to patients. In addition to the variation in CFTR genotype, there are several modifier genes that contribute to the respiratory phenotype.

  15. Diagnosis of Adult Patients with Cystic Fibrosis.

    PubMed

    Nick, Jerry A; Nichols, David P

    2016-03-01

    The diagnosis of cystic fibrosis (CF) is being made with increasing frequency in adults. Patients with CF diagnosed in adulthood typically present with respiratory complaints, and often have recurrent or chronic airway infection. At the time of initial presentation individuals may appear to have clinical manifestation limited to a single organ, but with subclinical involvement of the respiratory tract. Adult-diagnosed patients have a good response to CF center care, and newly available cystic fibrosis transmembrane receptor-modulating therapies are promising for the treatment of residual function mutation, thus increasing the importance of the diagnosis in adults with unexplained bronchiectasis.

  16. Cystic dilation of the ventriculus terminalis

    PubMed Central

    Kawanishi, Masahiro; Tanaka, Hidekazu; Yokoyama, Kunio; Yamada, Makoto

    2016-01-01

    The ventriculus terminalis (VT) is a virtual cavity of the conus medullaris that appears during embryonic life. We presented a case with the cystic dilation of the ventriculus terminalis (CDVT) in a symptomatic patient. A 66-year-old female suffered from disturbance while walking evolving for the past 2 years. An MR image revealed a cystic dilatation of ventriculus terminalis. The patient experienced marked improvement of lower extremity strength by a fenestration of cyst and cyst-subarachnoid shunt. Treatment for asymptomatic patients seems to be the best conducted conservatively, whereas patients with focal neurological deficits seem to be best handled surgically. PMID:27695242

  17. Cystic dilation of the ventriculus terminalis

    PubMed Central

    Kawanishi, Masahiro; Tanaka, Hidekazu; Yokoyama, Kunio; Yamada, Makoto

    2016-01-01

    The ventriculus terminalis (VT) is a virtual cavity of the conus medullaris that appears during embryonic life. We presented a case with the cystic dilation of the ventriculus terminalis (CDVT) in a symptomatic patient. A 66-year-old female suffered from disturbance while walking evolving for the past 2 years. An MR image revealed a cystic dilatation of ventriculus terminalis. The patient experienced marked improvement of lower extremity strength by a fenestration of cyst and cyst-subarachnoid shunt. Treatment for asymptomatic patients seems to be the best conducted conservatively, whereas patients with focal neurological deficits seem to be best handled surgically.

  18. Idiopathic cystic artery aneurysm complicated with hemobilia.

    PubMed

    Anand, Utpal; Thakur, Sanjeev Kumar; Kumar, Sanjay; Jha, Achyutanand; Prakash, Vijay

    2011-01-01

    Aneurysm of the cystic artery is not common, and it is a rare cause of hemobilia. Most of reported cases are pseudoaneurysms resulting from either an inflammatory process in the abdomen or abdominal trauma. We report a healthy individual who developed hemobilia associated with cystic artery aneurysm. The patient was managed with cholecystectomy and concomitant aneurysm repair. Visceral artery aneurysms are rare and can rupture with potentially grave outcome due to excessive bleeding. Angiographic embolization is a common method of treatment for visceral artery aneurysms. Open cholecystectomy and aneurysm repair was performed in our patient due to radiological evidence of associated cholecystitis.

  19. Cystic renal cell carcinoma and acquired renal cystic disease associated with consumption of chaparral tea: a case report.

    PubMed

    Smith, A Y; Feddersen, R M; Gardner, K D; Davis, C J

    1994-12-01

    Nordihydroguaiaretic acid is an antioxidant used experimentally to induce cystic renal disease in rats. It may be extracted from the leaves of the creosote bush, which are consumed as chaparral tea in the southwestern United States. We report a case of cystic renal disease and cystic adenocarcinoma of the kidney associated with a history of protracted consumption of chaparral tea.

  20. Global distribution of gravity wave fields and their seasonal dependence in the Martian atmosphere simulated in a high-resolution general circulation model

    NASA Astrophysics Data System (ADS)

    Kuroda, Takeshi; Medvedev, Alexander; Yiğit, Erdal; Hartogh, Paul

    2016-10-01

    Gravity waves (GWs) are small-scale atmospheric waves generated by various geophysical processes, such as topography, convection, and dynamical instability. On Mars, several observations and simulations have revealed that GWs strongly affect temperature and wind fields in the middle and upper atmosphere. We have worked with a high-resolution Martian general circulation model (MGCM), with the spectral resolution of T106 (horizontal grid interval of ~67 km), for the investigations of generation and propagation of GWs. We analyzed for three kinds of wavelength ranges, (1) horizontal total wavenumber s=21-30 (wavelength λ~700-1000 km), (2) s=31-60 (λ~350-700 km), and (3) s=61-106 (λ~200-350 km). Our results show that shorter-scale harmonics progressively dominate with height during both equinox and solstice. We have detected two main sources of GWs: mountainous regions and the meandering winter polar jet. In both seasons GW energy in the troposphere due to the shorter-scale harmonics is concentrated in the low latitudes in a good agreement with observations. Orographically-generated GWs contribute significantly to the total energy of disturbances, and strongly decay with height. Thus, the non-orographic GWs of tropospheric origin dominate near the mesopause. The vertical fluxes of wave horizontal momentum are directed mainly against the larger-scale wind. Mean magnitudes of the drag in the middle atmosphere are tens of m s-1 sol-1, while instantaneously they can reach thousands of m s-1 sol-1, which results in an attenuation of the wind jets in the middle atmosphere and in tendency of their reversal.

  1. Detection of cystic structures using pulsed ultrasonically induced resonant cavitation

    NASA Technical Reports Server (NTRS)

    Bar-Cohen, Yoseph (Inventor); Kovach, John S. (Inventor)

    2002-01-01

    Apparatus and method for early detection of cystic structures indicative of ovarian and breast cancers uses ultrasonic wave energy at a unique resonance frequency for inducing cavitation in cystic fluid characteristic of cystic structures in the ovaries associated with ovarian cancer, and in cystic structures in the breast associated with breast cancer. Induced cavitation bubbles in the cystic fluid implode, creating implosion waves which are detected by ultrasonic receiving transducers attached to the abdomen of the patient. Triangulation of the ultrasonic receiving transducers enables the received signals to be processed and analyzed to identify the location and structure of the cyst.

  2. Cystic echinococcosis in Mundari tribe-members of South Sudan

    PubMed Central

    Stewart, Barclay T; Jacob, Joseph; Finn, Timothy; Lado, Mounir; Napoleon, Robert; Brooker, Simon; Sidhu, Paul S; Kolaczinski, Jan

    2013-01-01

    Many neglected tropical diseases, including the zoonotic disease cystic echinococcosis (hydatidosis), are endemic to East Africa. However, their geographical distribution is heterogenous and incompletely characterized. The aim of this study was to determine if Mundari pastoralists harbor endemic human hydatidosis. The survey was conducted in cattle camps randomly selected from accessible sites provided by officials in Terekeka, South Sudan. Following informed consent, a questionnaire collected demographic data and hydatid exposure risk. A systematic sonographic abdominal exam was performed using General Electric’s LOGIQ Book XP with a 3C-RS 2–5 MHz curvilinear transducer. Six hundred and ten individuals were screened from 13 camps. Four infections were identified, all in women. The prevalence of abdominal hydatid disease in the Mundari tribe-members in cattle camps was 0.7% and all individuals reporting at least one high-risk exposure to hydatid disease. Cystic echinococcosis is endemic among Mundari pastoralists; however, it would appear to be less endemic than in neighboring tribes. PMID:24139620

  3. Zinc supplementation in children with cystic fibrosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cystic fibrosis (CF) leads to malabsorption of macro- and micronutrients. Symptomatic zinc deficiency has been reported in CF but little is known about zinc homeostasis in children with CF. Zinc supplementation (Zn suppl) is increasingly common in children with CF but it is not without theoretcial r...

  4. Nutritional assessment in children with cystic fibrosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Optimal nutrition, including consuming 35–40% of calories (kcal) as fat, is a vital part of the management of cystic fibrosis (CF), and involves accurate assessment of dietary intake. We compared 3 methods of nutritional assessment in 8– to 14-year-old children (n=20) with CF: 1) a 24-h Dietary Reca...

  5. Cystic lesion around the hip joint

    PubMed Central

    Yukata, Kiminori; Nakai, Sho; Goto, Tomohiro; Ikeda, Yuichi; Shimaoka, Yasunori; Yamanaka, Issei; Sairyo, Koichi; Hamawaki, Jun-ichi

    2015-01-01

    This article presents a narrative review of cystic lesions around the hip and primarily consists of 5 sections: Radiological examination, prevalence, pathogenesis, symptoms, and treatment. Cystic lesions around the hip are usually asymptomatic but may be observed incidentally on imaging examinations, such as computed tomography and magnetic resonance imaging. Some cysts may enlarge because of various pathological factors, such as trauma, osteoarthritis, rheumatoid arthritis, or total hip arthroplasty (THA), and may become symptomatic because of compression of surrounding structures, including the femoral, obturator, or sciatic nerves, external iliac or common femoral artery, femoral or external iliac vein, sigmoid colon, cecum, small bowel, ureters, and bladder. Treatment for symptomatic cystic lesions around the hip joint includes rest, nonsteroidal anti-inflammatory drug administration, needle aspiration, and surgical excision. Furthermore, when these cysts are associated with osteoarthritis, rheumatoid arthritis, and THA, primary or revision THA surgery will be necessary concurrent with cyst excision. Knowledge of the characteristic clinical appearance of cystic masses around the hip will be useful for determining specific diagnoses and treatments. PMID:26495246

  6. Intra-mandibular adenoid cystic carcinoma.

    PubMed

    Bouaichi, A; Aimad-Eddine, S; Mommers, X-A; Ella, B; Zwetyenga, N

    2014-04-01

    Intra-mandibular localization of adenoid cystic carcinoma is rare. This tumor is characterized by progressive local, regional, and distant aggressiveness. We reviewed the latest data on this rare type of cancer with a small number of reported cases, alack of consensus for its treatment, and its bad prognosis.

  7. A cystic fibrosis handbook for teachers.

    PubMed

    Ryan, L L; Williams, J K

    1996-01-01

    The purposes of this project were to (1) develop a handbook on cystic fibrosis for elementary school teachers and to (2) pilot this handbook with a group of teachers and school nurses. The project used a descriptive survey design in which parents, teachers, and school nurses of 14 elementary-age children with cystic fibrosis were recruited from one cystic fibrosis clinic. Interest in using the handbook with their child's teachers was elicited from parents; also, interest in using the handbook was obtained by open-ended questions in a mailed survey sent to teachers and school nurses. Levels of teacher and school nurse knowledge were measured with a true/false pretest and posttest instrument. All parents expressed a desire to use the handbook with their child's teachers. Sixty-seven percent of the teachers and 89% of the school nurses returned the survey, and all endorsed the use of the handbook in their classrooms or schools. Comparison of the pretest and posttest scores from the teachers revealed an increase in teachers' knowledge. Scores on pretest and posttest measures from school nurses were high at each testing time. Results support the use of a printed handbook to promote knowledge of cystic fibrosis in teachers and to support communication among nurses, parents, and teachers.

  8. Diabetes mellitus in patients with cystic fibrosis.

    PubMed

    Alves, Crésio de Aragão Dantas; Aguiar, Renata Arruti; Alves, Ana Cláudia S; Santana, Maria Angélica

    2007-01-01

    Cystic fibrosis-related diabetes (CFRD) is the principal extra-pulmonary complication of cystic fibrosis, occurring in 15-30% of adult cystic fibrosis patients. The number of cystic fibrosis patients who develop diabetes is increasing in parallel with increases in life expectancy. The aim of this study was to review the physiopathology, clinical presentation, diagnosis and treatment of CFRD. A bibliographic search of the Medline and Latin American and Caribbean Health Sciences Literature databases was made. Articles were selected from among those published in the last twenty years. Insulin deficiency, caused by reduced beta-cell mass, is the main etiologic mechanism, although insulin resistance also plays a role. Presenting features of type 1 and type 2 diabetes, CFRD typically affects individuals of approximately 20 years of age. It can also be accompanied by fasting, non-fasting or intermittent hyperglycemia. Glucose intolerance is associated with worsening of nutritional status, increased morbidity, decreased survival and reduced pulmonary function. Microvascular complications are always present, although macrovascular complications are rarely seen. An oral glucose tolerance test is recommended annually for patients > or = 10 years of age and for any patients presenting unexplained weight loss or symptoms of diabetes. Patients hospitalized with severe diseases should also be screened. If fasting hyperglycemia persists for more than 48 h, insulin therapy is recommended. Insulin administration remains the treatment of choice for diabetes and fasting hyperglycemia. Calories should not be restricted, and patients with CFRD should be managed by a multidisciplinary team. PMID:17724542

  9. [A case of retroperitoneal cystic lymphangioma].

    PubMed

    Perini, F; Metelli, F; Bazzana, M

    1979-06-30

    A case of retroperitoneal cystic lymphangioma in a 62-yr-old woman presented as symptom-free abdominal swelling. The intraoperative diagnosis was confirmed histologically. Radical management consisted of stripping of the cyst from its adjacent structures. The postoperative course was uneventful.

  10. Nutrient Status of Adults with Cystic Fibrosis

    PubMed Central

    GORDON, CATHERINE M.; ANDERSON, ELLEN J.; HERLYN, KAREN; HUBBARD, JANE L.; PIZZO, ANGELA; GELBARD, RONDI; LAPEY, ALLEN; MERKEL, PETER A.

    2011-01-01

    Nutrition is thought to influence disease status in patients with cystic fibrosis (CF). This cross-sectional study sought to evaluate nutrient intake and anthropometric data from 64 adult outpatients with cystic fibrosis. Nutrient intake from food and supplements was compared with the Dietary Reference Intakes for 16 nutrients and outcomes influenced by nutritional status. Attention was given to vitamin D and calcium given potential skeletal implications due to cystic fibrosis. Measurements included weight, height, body composition, pulmonary function, and serum metabolic parameters. Participants were interviewed about dietary intake, supplement use, pulmonary function, sunlight exposure, and pain. The participants’ mean body mass index (±standard deviation) was 21.8±4.9 and pulmonary function tests were normal. Seventy-eight percent used pancreatic enzyme replacement for malabsorption. Vitamin D deficiency [25-hydroxyvitamin D (25OHD)<37.5 nmol/L] was common: 25 (39%) were deficient despite adequate vitamin D intake. Lipid profiles were normal in the majority, even though total and saturated fat consumption represented 33.0% and 16.8% of energy intake, respectively. Reported protein intake represented 16.9% of total energy intake (range 10%–25%). For several nutrients, including vitamin D and calcium, intake from food and supplements in many participants exceeded recommended Tolerable Upper Intake Levels. Among adults with cystic fibrosis, vitamin D deficiency was common despite reported adequate intake, and lipid profiles were normal despite a relatively high fat intake. Mean protein consumption was adequate, but the range of intake was concerning, as both inadequate or excessive intake may have deleterious skeletal effects. These findings call into question the applicability of established nutrient thresholds for patients with cystic fibrosis. PMID:18060897

  11. Characterizing diverse orthologues of the cystic fibrosis transmembrane conductance regulator protein for structural studies.

    PubMed

    Pollock, Naomi L; Rimington, Tracy L; Ford, Robert C

    2015-10-01

    As an ion channel, the cystic fibrosis transmembrane conductance regulator (CFTR) protein occupies a unique niche within the ABC family. Orthologues of CFTR are extant throughout the animal kingdom from sharks to platypods to sheep, where the osmoregulatory function of the protein has been applied to differing lifestyles and diverse organ systems. In humans, loss-of-function mutations to CFTR cause the disease cystic fibrosis, which is a significant health burden in populations of white European descent. Orthologue screening has proved fruitful in the pursuit of high-resolution structural data for several membrane proteins, and we have applied some of the princples developed in previous studies to the expression and purification of CFTR. We have overexpressed this protein, along with evolutionarily diverse orthologues, in Saccharomyces cerevisiae and developed a purification to isolate it in quantities sufficient for structural and functional studies. PMID:26517900

  12. An Interesting Association of Cystic Hygroma of the Neck and Lymphangioma Causing a Paediatric Swollen Tongue.

    PubMed

    Beech, A N; Farrier, J N

    2016-01-01

    Up to 75% of lymphatic malformations occur in the head and neck region. Of these, cystic hygromas and lymphangiomas have been widely reported; however they rarely occur in the same patient. We report the case of a 5-year-old girl who presented to the Department of Paediatrics of a district general hospital with a short history of recurrent, painful swelling of the anterior one-third of her tongue. She was reviewed under the joint care of the Oral and Maxillofacial Surgery and Otolaryngology Teams. Relevant past medical history included a previously excised cystic hygroma from her right neck when she was aged 2 years. Diagnosis of lymphangioma was made and of the potential management options available active monitoring was favoured due to the patient's age. To our knowledge the occurrence of both tongue lymphangioma and cystic hygroma has not been previously reported in a paediatric patient. This case report therefore shows a rare association between a cystic hygroma of the neck and lymphangioma of the tongue. PMID:27069707

  13. Effects of spatial resolution

    NASA Technical Reports Server (NTRS)

    Abrams, M.

    1982-01-01

    Studies of the effects of spatial resolution on extraction of geologic information are woefully lacking but spatial resolution effects can be examined as they influence two general categories: detection of spatial features per se; and the effects of IFOV on the definition of spectral signatures and on general mapping abilities.

  14. Quantitative comparison using generalized relative object detectability (G-ROD) metrics of an amorphous selenium detector with high resolution microangiographic fluoroscopes (MAF) and standard flat panel detectors (FPD)

    NASA Astrophysics Data System (ADS)

    Russ, M.; Shankar, A.; Jain, A.; Setlur Nagesh, S. V.; Ionita, C. N.; Scott, C.; Karim, K. S.; Bednarek, D. R.; Rudin, S.

    2016-03-01

    A novel amorphous selenium (a-Se) direct detector with CMOS readout has been designed, and relative detector performance investigated. The detector features include a 25μm pixel pitch, and 1000μm thick a-Se layer operating at 10V/μm bias field. A simulated detector DQE was determined, and used in comparative calculations of the Relative Object Detectability (ROD) family of prewhitening matched-filter (PWMF) observer and non-pre-whitening matched filter (NPWMF) observer model metrics to gauge a-Se detector performance against existing high resolution micro-angiographic fluoroscopic (MAF) detectors and a standard flat panel detector (FPD). The PWMF-ROD or ROD metric compares two x-ray imaging detectors in their relative abilities in imaging a given object by taking the integral over spatial frequencies of the Fourier transform of the detector DQE weighted by an object function, divided by the comparable integral for a different detector. The generalized-ROD (G-ROD) metric incorporates clinically relevant parameters (focal- spot size, magnification, and scatter) to show the degradation in imaging performance for detectors that are part of an imaging chain. Preliminary ROD calculations using simulated spheres as the object predicted superior imaging performance by the a-Se detector as compared to existing detectors. New PWMF-G-ROD and NPWMF-G-ROD results still indicate better performance by the a-Se detector in an imaging chain over all sphere sizes for various focal spot sizes and magnifications, although a-Se performance advantages were degraded by focal spot blurring. Nevertheless, the a-Se technology has great potential to provide break- through abilities such as visualization of fine details including of neuro-vascular perforator vessels and of small vascular devices.

  15. Implications of carrier identification in newborn screening for cystic fibrosis

    PubMed Central

    Parsons, E; Clarke, A; Bradley, D

    2003-01-01

    Objective: To investigate the psychosocial implications for families whose infant was identified as a cystic fibrosis carrier by newborn screening. Design: Prospective psychosocial assessment. Setting: Primary care. Respondents: Study: (a) families of an affected infant identified by screening (n = 9); (b) families of a carrier infant identified by screening (n = 10). Control: group of mothers from the general population (n = 82). Interventions: Questionnaires and semistructured interviews. Main outcome measures: Attitude to screening, assessments of the mother/baby relationship, anxiety, wellbeing. Results: All families were in favour of screening, with no evidence that the mother/baby relationship, anxiety or wellbeing had been adversely affected. Parents, however, did identify problems in terms of the service delivery protocol and genetic counselling practice. Conclusion: Six months after disclosure, carrier identification was not perceived by parents to be problematic. PMID:14602692

  16. Isolation of Staphylococcus aureus from sputum in cystic fibrosis.

    PubMed

    Sparham, P D; Lobban, D I; Speller, D C

    1978-10-01

    The success in the isolation of Staphylococcus aureus of different methods of sputum processing was investigated in 60 specimens collected from 14 patients with cystic fibrosis during a seven-month period. Fifty specimens (83%) from 11 patients yielded Staph. aureus by one or more methods. Direct plating of purulent portions of sputum on to media designed for general use in respiratory infections gave unsatisfactory results (35% yield of Staph. aureus). Some increase in isolations was obtained with preliminary liquefaction of sputum; but the best results were given by the addition of a medium selective for staphylococci (mannitol salt agar, BBL) or by initial sonication of sputum (each 83% yield). Seven of the 11 strains of Staph. aureus were thymidine-dependent and otherwise atypical in laboratory characteristics; these were isolated from patients who had received co-trimoxazole. PMID:101553

  17. Adenoid Cystic Carcinoma Mimicking an Oroantral Fistula: A Case Report

    PubMed Central

    Monteiro, Bárbara Vanessa de Brito; Grempel, Rafael Grotta; Gomes, Daliana Queiroga de Castro; Godoy, Gustavo Pina; Miguel, Márcia Cristina da Costa

    2013-01-01

    Introduction Adenoid cystic carcinoma (ACC) is one of the most frequent malignant salivary gland tumors, which commonly affects the minor salivary glands of the mouth and is rare in the nose and paranasal sinuses. In the maxillary sinus, ACC can mimic inflammatory diseases and has a poor prognosis. Objective To report a case of a 50-year-old man with ACC of the maxillary sinus whose clinical findings in the alveolar ridge mimicked an oroantral fistula. Case Report An excisional biopsy was performed and histopathologic analysis revealed ACC. Lung metastases and residual tumor in the maxillary sinus were detected by imaging methods. In view of the poor general health of the patient, no new surgical intervention was performed and he was only treated by radiotherapy and follow-up. Conclusion Although rare in the maxillary sinus, ACC should be included in the differential diagnosis of lesions affecting this site. PMID:25992095

  18. Diffuse Cystic Lung Disease. Part II.

    PubMed

    Gupta, Nishant; Vassallo, Robert; Wikenheiser-Brokamp, Kathryn A; McCormack, Francis X

    2015-07-01

    The diffuse cystic lung diseases have a broad differential diagnosis. A wide variety of pathophysiological processes spanning the spectrum from airway obstruction to lung remodeling can lead to multifocal cyst development in the lung. Although lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis are perhaps more frequently seen in the clinic, disorders such as Birt-Hogg-Dubé syndrome, lymphocytic interstitial pneumonia, follicular bronchiolitis, and light-chain deposition disease are increasingly being recognized. Obtaining an accurate diagnosis can be challenging, and management approaches are highly disease dependent. Unique imaging features, genetic tests, serum studies, and clinical features provide invaluable clues that help clinicians distinguish among the various etiologies, but biopsy is often required for definitive diagnosis. In part II of this review, we present an overview of the diffuse cystic lung diseases caused by lymphoproliferative disorders, genetic mutations, or aberrant lung development and provide an approach to aid in their diagnosis and management.

  19. Cystic fibrosis and physiological responses to exercise.

    PubMed

    Williams, Craig A; Saynor, Zoe L; Tomlinson, Owen W; Barker, Alan R

    2014-12-01

    Cardiopulmonary exercise testing is underutilized within the clinical management of patients with cystic fibrosis. But within the last 5 years, there has been considerable interest in its implementation, which has included deliberations by the European Cystic Fibrosis Society about incorporating this method within the clinical assessment of patients. This review examines the current use of cardiopulmonary exercise testing in assessing the extent and cause(s) of exercise limitation from a pediatric perspective. Examples of the measured parameters and their interpretation are provided. Critical synthesis of recent work in the oxygen uptake (VO2) kinetics response to and following exercise is also discussed, and although identified more as a research tool, its utilization advances researchers understanding of the cardiovascular, respiratory and muscular limitations to exercise tolerance. Finally, exercise and its application in therapeutic interventions are highlighted and a number of recommendations made about the utility of exercise prescription.

  20. Calcium-mediated mechanisms of cystic expansion

    PubMed Central

    Abdul-Majeed, Shakila; Nauli, Surya M.

    2010-01-01

    In this review, we will discuss several well-accepted signaling pathways toward calcium-mediated mechanisms of cystic expansion. The second messenger calcium ion has contributed to a vast diversity of signal transduction pathways. We will dissect calcium signaling as a possible mechanism that contributes to renal cyst formation. Because cytosolic calcium also regulates an array of signaling pathways, we will first discuss cilia-induced calcium fluxes, followed by Wnt signaling that has attributed to much-discussed planar cell polarity. We will then look at the relationship between cytosolic calcium and cAMP as one of the most important aspects of cyst progression. The signaling of cAMP on MAPK and mTOR will also be discussed. We infer that while cilia-induced calcium fluxes may be the initial signaling messenger for various cellular pathways, no single signaling mediator or pathway is implicated exclusively in the progression of the cystic expansion. PMID:20932898

  1. Acquired Cystic Fibrosis Transmembrane Conductance Regulator Deficiency.

    PubMed

    Cho, Do-Yeon; Woodworth, Bradford A

    2016-01-01

    In the genetic airway disease cystic fibrosis (CF), deficiency or dysfunction of the cystic fibrosis membrane conductance regulator (CFTR) alters anion transport in respiratory epithelium and consequently disrupts mucociliary clearance. An enriched understanding of the role of CFTR in the maintenance of normal epithelial function has revealed that mild and variable CFTR mutations play a causative role in a number of diseases not classically associated with CF. Furthermore, recent evidence indicates that acquired defects in wild-type CFTR protein processing, endocytic recycling and function can contribute to the pathogenesis of airway diseases, such as chronic obstructive pulmonary disease. In this chapter, we discuss emerging findings implicating acquired CFTR dysfunction in the pathogenesis of chronic rhinosinusitis and propose a new and leading edge approach to future CRS therapy using CFTR potentiators. PMID:27466849

  2. Inflammation and its genesis in cystic fibrosis.

    PubMed

    Nichols, David P; Chmiel, James F

    2015-10-01

    The host inflammatory response in cystic fibrosis (CF) lung disease has long been recognized as a central pathological feature and an important therapeutic target. Indeed, many believe that bronchiectasis results largely from the oxidative and proteolytic damage comprised within an exuberant airway inflammatory response that is dominated by neutrophils. In this review, we address the longstanding argument of whether or not the inflammatory response is directly attributable to impairment of the cystic fibrosis transmembrane conductance regulator or only secondary to airway obstruction and chronic bacterial infection and challenge the importance of this distinction in the context of therapy. We also review the centrality of neutrophils in CF lung pathophysiology and highlight more recent data that suggest the importance of other cell types and signaling beyond NF-κB activation. We discuss how protease and redox imbalance are critical factors in CF airway inflammation and end by reviewing some of the more promising therapeutic approaches now under development.

  3. Cystic fibrosis and physiological responses to exercise.

    PubMed

    Williams, Craig A; Saynor, Zoe L; Tomlinson, Owen W; Barker, Alan R

    2014-12-01

    Cardiopulmonary exercise testing is underutilized within the clinical management of patients with cystic fibrosis. But within the last 5 years, there has been considerable interest in its implementation, which has included deliberations by the European Cystic Fibrosis Society about incorporating this method within the clinical assessment of patients. This review examines the current use of cardiopulmonary exercise testing in assessing the extent and cause(s) of exercise limitation from a pediatric perspective. Examples of the measured parameters and their interpretation are provided. Critical synthesis of recent work in the oxygen uptake (VO2) kinetics response to and following exercise is also discussed, and although identified more as a research tool, its utilization advances researchers understanding of the cardiovascular, respiratory and muscular limitations to exercise tolerance. Finally, exercise and its application in therapeutic interventions are highlighted and a number of recommendations made about the utility of exercise prescription. PMID:25395018

  4. [Dry powder inhalers in cystic fibrosis].

    PubMed

    Steinkamp, G

    2014-06-01

    Inhaled medications play an important role in the daily treatment of patients with cystic fibrosis (CF). The classic route of administration was nebulisation via jet nebulisers. Respiratory delivery of fluid particles should loosen the viscid respiratory secretions, making airway clearance via cough or physiotherapy more efficient. Until recently, only jet nebulisers allowed to administer high doses of aerosolised antipseudomonal antibiotics. Powder inhalers for the treatment of cystic fibrosis have recently been made available. The newly developed powders and inhalers differ considerably from conventional dry powder inhalers used for the treatment of chronic obstructive airway disease. The present article will review two inhaled antibiotics, i. e. tobramycin and colistin, and the hyperosmotic agent mannitol, which increases the hydration of the airways. Topics are particle engineering, efficacy and tolerability results from clinical trials, as well as functional and practical aspects related to these new drugs. PMID:24664997

  5. Parotid Cystic Lesion in Amelanotic Malignant Melanoma.

    PubMed

    Santos, Vitorino Modesto Dos; Gondim Neto, Manoel da Costa; de Melo, Tereza Rodrigues de Carvalho Vieira; Motta, Iara Machado

    2016-09-01

    A 60-year Brazilian woman, presented with an enlarged lymph node in the neck for one year, and a superficial nonulcerated lesion was observed in the scalp. Fine needle aspiration and biopsy of the lymph node revealed amelanocytic metastasis, and immunohistochemistry study showed Melan-A/ Mart-1 antigen (clone A103 and S-100 protein). The entire suspected area of the scalp was further resected and an amelanotic melanoma without angiolymphatic invasion was diagnosed. Ultrasonography and PET-computed tomography showed hypermetabolic cystic area in the right parotid. Furthermore, aspiration biopsy and surgical samples from parotid cyst confirmed the malignant amelanotic melanoma. Cystic metastases are scarcely reported in parotid gland, and can pose diagnostic challenges. PMID:27671185

  6. Spontaneous regression of a cystic retroperitoneal tumour in young women postpartum. Report of two cases.

    PubMed

    de Zeeuw, Sharonne; Schouten van der Velden, Arjan P; Eggink, Alex J; Strijk, Simon; Wobbes, Theo

    2011-01-01

    Retroperitoneal cystic tumours are rarely found, and of these, the most common lesion is a cystic lymphangioma. We present two postpartum patients with a cystic retroperitoneal tumour which showed spontaneous regression and a review of the literature.

  7. [Perinephric liposarcoma mimicking cystic renal tumor].

    PubMed

    Horiguchi, Akio; Oyama, Masafumi

    2002-03-01

    Liposarcoma is one of the most common primary retroperitoneal neoplasms, and the perinephric region is a frequent location for them. Liposarcomas show a variety of radiographic features in terms of histological types and tumor sizes, so the specific diagnosis of liposarcoma is often difficult. We present a unique case of perinephric dedifferentiated liposarcoma mimicking cystic renal tumor. A 71-year-old man presented himself at our hospital with a palpable mass in his upper right abdomen. Abdominal computerized tomography (CT) revealed a well-defined cystic mass at the lower pole of the right kidney that contained heterogeneous solid components and small foci of fat. There were no signs of lymphadenopathy or tumor thrombus in the renal vein. Metastatic evaluation by chest x-ray and bone scan was negative. The probable diagnosis was cystic renal cell carcinoma or atypical angiomyolipoma. Because we could not exclude the possibility of cystic malignancy, a right radical nephrectomy was performed. Grossly, the tumor was predominantly encapsulated by a unilocular fibrous capsule and was filled with bloody fluid and debris. The anterior portion of the tumor was composed of various-sized soft and rubbery masses covered with necrotic tissue. The histological diagnosis was dedifferentiated liposarcoma arising in the perinephric retroperitoneum with extensive necrosis, and the cyst wall was composed of a necrotic tumor with a well differentiated liposarcoma and a fibrous capsule. Although the tumor widely covered the right kidney, there was no microscopic invasion of the kidney. No signs of tumor recurrence were noted six months after the operation.

  8. [New prospects in cystic fibrosis treatment].

    PubMed

    Prados, C; Serrano, S; Alvarez-Sala, R; Villamor, J

    1997-04-01

    Only a few years ago, cystic fibrosis (CF) was considered the most frequent genetic disease in childhood, although survival has increased considerably in recent years owing to improved treatment. We discuss treatments that are still relevant as well as others that are under investigation now, aiming for better understanding of the disease and the therapies that have improved quality of life for CF patients. PMID:9280562

  9. [The diagnosis and treatment of one huge cystic lymphangioma in etropharyngeal space].

    PubMed

    Zhang, Hua; Song, Xicheng; Jia, Chuanliang

    2016-01-01

    One child was hospitalized because of repeated cough and sputum. The biopsy diagnosis in local hospital was cystic lymphangioma in retropharyngeal space. We carried out transoral incision and drainage by catheter under general anesthesia. Put into the surgical cavity a suction drainage tube, and injected 5 mg dexamethasone and 8mg Bleomycin. He had nasogastric liquid diet after operation. We removed the suction drainage tube two weeks later. No recurrence was found following up over two years. PMID:27192920

  10. Thermal detectivity enhancement of visible and near infrared thermography by using super-resolution algorithm: Possibility to generalize the method to other domains

    NASA Astrophysics Data System (ADS)

    Teyssieux, Damien; Euphrasie, Sebastien; Cretin, Bernard

    2009-03-01

    This paper reports on a method which allows a decrease in the minimal detectable temperature in visible and near infrared thermography. This original method permits an increase in the thermal sensitivity without loss of good spatial resolution. It is based on a binning operation and a super-resolution algorithm. The radiometric model and super-resolution method are presented. Measurements on two different samples show the enhancement of the thermal sensitivity and the capability of the method. Finally, the authors propose different ways in which the method can be applied.

  11. Progress in therapies for cystic fibrosis.

    PubMed

    De Boeck, Kris; Amaral, Margarida D

    2016-08-01

    Standard follow-up and symptomatic treatment have allowed most patients with cystic fibrosis to live to young adulthood. However, many patients still die prematurely from respiratory insufficiency. Hence, further investigations to improve these therapies are important and might have relevance for other diseases-eg, exploring how to increase airway hydration, how to safely downscale the increased inflammatory response in the lung, and how to better combat lung infections associated with cystic fibrosis. In parallel, development of modulators that target the underlying dysfunction in the cystic fibrosis transmembrane conductance regulator (CFTR) is fast moving forward. Existing treatments are specific to certain mutations, or mutation class, in CFTR. An effective, although not yet entirely corrective, treatment is available for patients with class III mutations, and a treatment with modest effectiveness is available for patients who are homozygous for Phe508del, albeit at a very high cost. Corrective treatments that are non-specific to mutation class and thus applicable to all patients-eg, gene therapy, cell-based therapies, and activation of alternative ion channels that bypass CFTR-are being explored, but they are still in early stages of development. In view of the large number of patients with very rare mutations, a plan to advance personalised biomarkers to predict treatment effect is also being investigated and validated. PMID:27053340

  12. [Molecular epidemiology of cystic fibrosis in Tunisia].

    PubMed

    Messaoud, T; Bel Haj Fredj, S; Bibi, A; Elion, J; Férec, C; Fattoum, S

    2005-01-01

    Cystic fibrosis is the most frequent autosomal recessive genetic disease in North European population. This pathology seems to not be rare in Tunisia. On another hand, development of molecular biology techniques has largely contributed to implement the study of the different mutations in the CFTR gene where over 1,300 mutations were reported. Herein, we describe the strategy used to detect molecular defects responsible of cystic fibrosis on 390 children (383 families) in Tunisian population. Several techniques were performed for genotype diagnosis: DNA extraction was from peripheral blood. Polymerase chain reaction (PCR) and polyacylamide gel electrophoresis, and reverse dot blot procedures were used to detect known point mutations. Denaturant gradient gel electrophoresis (DGGE) were used in a next step searching for the unknown point mutations that are later identified by automated sequencing on ABIprism 310. This strategy allowed us to detect 17 different mutations located on the different exons of the CFTR gene. The most frequent was the F508del (50.74%) followed by three other mutations (G542X, W1282X and N1303K) known to be common in the Mediterranean area. For mutations (T665S, 2766 del8, F1166C, L1043R) were exclusively found, up to now, in the Tunisian population. Our results permitted to establish cystic fibrosis mutations and their distribution in Tunisia and to implement an appropriate prevention program of these diseases through the genetic council and prenatal diagnosis.

  13. Large Mature Cystic Teratoma of the Third Ventricle in Infancy: A Case Report and Review of Literatures

    PubMed Central

    Ha, Byeong Jin; Cheong, Jin Hwan

    2016-01-01

    Teratomas of the central nervous system are rare and are frequently found in children and young adults. Cystic teratomas found in infancy is a well-recognized but infrequent entity. Intracranial teratomas,like teratomas in general, tend to arise from midline structures such as the pineal gland, but has rarely been found in the third ventricle. We report a rare case of a 6-month-old infant with a mature cystic teratoma of the third ventricle with a review of literatures PMID:27195263

  14. Giant cystic leiomyoma of the uterus occupying the retroperitoneal space.

    PubMed

    Funaki, Kaoru; Fukunishi, Hidenobu; Tsuji, Yoshihiko; Maeda, Tetsuo; Takahashi, Takuya

    2013-12-01

    A 31-year-old nulliparous woman visited our hospital complaining of abdominal distension. Abdominal ultrasonography and computed tomography revealed a 40 × 40 × 30-cm, multilocular cystic mass extending from the upper abdomen to the pelvis. Magnetic resonance imaging (MRI) revealed a cystic tumor that was hypointense on T1-weighted images and was heterogeneously hyperintense on T2-weighted images. The final diagnosis was an 8 kg leiomyoma with cystic degeneration. Uterine leiomyomas are common benign tumors in females of reproductive age. However, subserosal leiomyomas with complete cystic degeneration of the retroperitoneal space are rare, and they are difficult to accurately diagnosis without pathological examination.

  15. Chloride and potassium channels in cystic fibrosis airway epithelia

    NASA Astrophysics Data System (ADS)

    Welsh, Michael J.; Liedtke, Carole M.

    1986-07-01

    Cystic fibrosis, the most common lethal genetic disease in Caucasians, is characterized by a decreased permeability in sweat gland duct and airway epithelia. In sweat duct epithelium, a decreased Cl- permeability accounts for the abnormally increased salt content of sweat1. In airway epithelia a decreased Cl- permeability, and possibly increased sodium absorption, may account for the abnormal respiratory tract fluid2,3. The Cl- impermeability has been localized to the apical membrane of cystic fibrosis airway epithelial cells4. The finding that hormonally regulated Cl- channels make the apical membrane Cl- permeable in normal airway epithelial cells5 suggested abnormal Cl- channel function in cystic fibrosis. Here we report that excised, cell-free patches of membrane from cystic fibrosis epithelial cells contain Cl- channels that have the same conductive properties as Cl- channels from normal cells. However, Cl- channels from cystic fibrosis cells did not open when they were attached to the cell. These findings suggest defective regulation of Cl- channels in cystic fibrosis epithelia; to begin to address this issue, we performed two studies. First, we found that isoprenaline, which stimulates Cl- secretion, increases cellular levels of cyclic AMP in a similar manner in cystic fibrosis and non-cystic fibrosis epithelial cells. Second, we show that adrenergic agonists open calcium-activated potassium channels, indirectly suggesting that calcium-dependent stimulus-response coupling is intact in cystic fibrosis. These data suggest defective regulation of Cl- channels at a site distal to cAMP accumulation.

  16. Mesenteric calcified cystic lymphangioma in an adult patient.

    PubMed

    Albayrak, Yavuz; Albayrak, Fatih; Arslan, Serdar; Calik, Ilknur

    2011-06-01

    Abdominal cystic lymphangiomas are rare congenital benign malformations of the lymphatic system. To the best of our knowledge, only 6 mesenteric calcified cystic lymphangiomas have ever been reported. We herein describe a woman who presented to our hospital with stomachache that had been continuous for approximately 8 months. An abdominal computed tomography showed a cystic lesion. In the exploration, the cyst was totally excised. Based on the histomorphological data, a case of "calcified cystic lymphangioma" was diagnosed. Although mesenteric lymphangiomas are rare, especially in adults, they should be considered as a possible cause of abdominal pain. Treatment is surgical with resection of the mass, sometimes including resection of adjacent bowel.

  17. Percutaneous Image-Guided Aspiration and Sclerosis of Adventitial Cystic Disease of the Femoral Vein

    SciTech Connect

    Johnson, Jason M.; Kiankhooy, Armin; Bertges, Daniel J.; Morris, Christopher S.

    2009-07-15

    Adventitial cystic disease (ACD), also known as cystic mucoid or myxomatous degeneration, is a rare vascular disease mainly seen in arteries. Seventeen cases have been reported in the world literature. We report the first known case of ACD successfully treated with percutaneous image-guided ethanol sclerosis. Computed tomography showed a cystic mass adherent to the wall of the common femoral vein. An ultrasound examination revealed a deep venous thrombosis of the leg, secondary to extrinsic compression of the common femoral vein. Three years prior to our procedure, the cyst was aspirated, which partially relieved the patient's symptoms. Over the following 3 years the patient's symptoms worsened and a 10-cm discrepancy in thigh size developed, in addition to the deep venous thrombosis associated with lower-extremity edema. Using ultrasound guidance and fluoroscopic control, the cyst was drained and then sclerosed with absolute ethanol. The patient's symptoms and leg swelling resolved completely within several weeks. Follow-up physical examination and duplex ultrasound 6 months following sclerosis demonstrated resolution of the symptoms and elimination of the extrinsic compression effect of the ACD on the common femoral vein.

  18. Non-cystic fibrosis bronchiectasis.

    PubMed

    McDonnell, M J; Ward, C; Lordan, J L; Rutherford, R M

    2013-08-01

    Bronchiectasis is a chronic debilitating condition with considerable phenotypic diversity. A vicious cycle of infection and inflammation exists in damaged airways with patients suffering from persistent cough, purulent sputum production, recurrent chest infections and general malaise. The associated burden of disease in terms of increased morbidity, reduced quality of life and the socioeconomic cost of long-term management is significant. Further research is essential to improve our understanding of the development and progression of this disease. This article reviews what is currently known about bronchiectasis, its pathophysiology, aetiology and management strategies. PMID:23728208

  19. Clinical evolution of cystic teratoma during treatment with combination chemotherapy.

    PubMed

    Taylor, H G; Tell, D T; Skoog, S J; McLeod, D G

    1986-09-01

    Progressive, cystic tumor enlargement in the abdomen developed in a patient with teratocarcinoma during treatment with systemic chemotherapy. Tumor markers were elevated in the cyst fluid and negative in serum. Further, the patient underwent a successful surgical debulking of large amounts of cystic teratoma.

  20. Analyzing the Effect of Tropical Cyclones on the Upper Ocean Using an Ocean General Circulation Model with Varying Horizontal Grid Resolution

    NASA Astrophysics Data System (ADS)

    Li, H.; Sriver, R. L.

    2015-12-01

    Tropical cyclones (TCs) have the potential to influence regional and global climate through their interactions with the upper ocean. Here we present results from a suite of ocean-only model experiments featuring the Community Earth System Model (CESM), in which we analyze the effect of tropical cyclone wind forcing on the global ocean using three different horizontal ocean grid resolutions (3˚, 1˚, and 0.1˚). The ocean simulations are forced with identical atmospheric inputs from the Coordinated Ocean-Ice Reference Experiments version 2 (COREv2) normal year forcing conditions, featuring global blended TC winds from a fully-coupled CESM simulation with a 25 km atmosphere [Small et al., 2014]. The simulated TC climatology shows good agreement with observational estimates of annual TC statistics, including annual frequency, intensity distributions, and geographic distributions. Each simulation is 10 years, which includes a 5-year spin up and 5 years of TC-wind forcing. In addition, we conduct corresponding control simulations for each grid resolution configuration without applied TC forcing. We will discuss the TC-induced ocean responses across a variety of spatial and temporal scales. A key highlight of this work is analyzing the effect of ocean horizontal grid resolution on TC-induced ocean responses, particularly at resolutions capable of simulating mesoscale ocean eddies.

  1. Cystic fibrosis heterozygote screening in 5,161 pregnant women.

    PubMed Central

    Witt, D. R.; Schaefer, C.; Hallam, P.; Wi, S.; Blumberg, B.; Fishbach, A.; Holtzman, J.; Kornfeld, S.; Lee, R.; Nemzer, L.; Palmer, R.

    1996-01-01

    A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of male partners. Prenatal diagnosis was offered if both parents were identified as carriers. A total of 5,161 women underwent carrier testing; 947 others completed survey instruments only. The acceptance rate of screening was high (78%), and pretest education by videotape was generally effective. Adverse psychological effects were not reported. Participants generally found screening to be desirable and useful. Screening identified 142 female heterozygotes, 109 couples in which the male partner was not a carrier, and 7 high-risk couples. The incidence of R117H mutations was much higher than expected. The number of identified carriers was much lower in Hispanics than in Caucasians. We conclude that large-scale prenatal screening for CF heterozygotes in the absence of a family history of CF is an acceptable method for identifying couples at risk for affected fetuses. Sufficient pretest education can be accomplished efficiently, test insensitivity is well accepted, adverse psychological events are not observed, and general patient satisfaction is high. PMID:8644747

  2. Cystic fibrosis heterozygote screening in 5,161 pregnant women

    SciTech Connect

    Witt, D.R.; Hallam, P.; Blumberg, B.; Fishbach, A.

    1996-04-01

    A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of male partners. Prenatal diagnosis was offered if both partners were identified as carriers. A total of 5,161 women underwent carrier testing; 947 others completed survey instruments only. The acceptance rate of screening was high (78%), and pretest education by videotape was generally effective. Adverse psychological effects were not reported. Participants generally found screening to be desirable and useful. Screening identified 142 female heterozygotes, 109 couples in which the male partner was not a carrier, and 7 high-risk couples. The incidence of R117H mutations was much higher than expected. The number of identified carriers was much lower in Hispanics than in Caucasians. We conclude that large-scale prenatal screening for CF heterozygotes in the absence of a family history of CF is an acceptable method for identifying couples at risk for affected fetuses. Sufficient pretest education can be accomplished efficiently, test insensitivity is well accepted, adverse psychological events are not observed, and general patient satisfaction is high. 66 refs., 1 fig., 8 tabs.

  3. Pseudomonal infection in cystic fibrosis: the battle continues.

    PubMed

    Elkin, Sarah; Geddes, Duncan

    2003-12-01

    Pseudomonas aeruginosa lung infection is the major cause of morbidity and mortality in patients with cystic fibrosis. Infection usually begins in childhood and is responsible for respiratory failure and death in most patients with cystic fibrosis. The organism triggers an exuberant chronic inflammatory reaction which damages the airways and leads to progressive loss of lung function. Over the last decade significant advances have been made in the understanding of the pathophysiology of cystic fibrosis airways disease. These should assist the development of new and better therapies to treat this pathogen. This review provides an overview of pseudomonal infection in cystic fibrosis, including mechanisms by which the bacteria may colonize the cystic fibrosis airway, persistence of pseudomonal infection and the biofilm mode of growth. Available treatments and possible novel approaches to therapy will be discussed. PMID:15482158

  4. New insights into cystic fibrosis-related diabetes in children.

    PubMed

    Ode, Katie L; Moran, Antoinette

    2013-09-01

    Cystic fibrosis-related diabetes (CFRD) is the most common complication of cystic fibrosis. It is associated with significantly increased morbidity and mortality in adults and children. Adolescents with cystic fibrosis have a much higher prevalence of diabetes than any other similar age population. Glucose abnormalities that precede diabetes are even more common, especially in children younger than 10 years. The pathophysiology of glucose metabolic abnormalities is poorly understood, but insulin insufficiency is clearly the main component. Findings from animal studies have provided insight into the pathophysiology of CFRD, and imply that carbohydrate metabolic abnormalities might begin at much younger ages than was previously thought in patients with cystic fibrosis, and might be related to the basic cystic fibrosis chloride channel defect. In this Review we explore present knowledge of CFRD in children and adolescents, and new data that indicate that the pathophysiology of CFRD begins in very young patients.

  5. Cystic Fibrosis Diagnosis and Newborn Screening.

    PubMed

    Rosenfeld, Margaret; Sontag, Marci K; Ren, Clement L

    2016-08-01

    The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults. PMID:27469178

  6. The Changing Microbial Epidemiology in Cystic Fibrosis

    PubMed Central

    LiPuma, John J.

    2010-01-01

    Summary: Infection of the airways remains the primary cause of morbidity and mortality in persons with cystic fibrosis (CF). This review describes salient features of the epidemiologies of microbial species that are involved in respiratory tract infection in CF. The apparently expanding spectrum of species causing infection in CF and recent changes in the incidences and prevalences of infection due to specific bacterial, fungal, and viral species are described. The challenges inherent in tracking and interpreting rates of infection in this patient population are discussed. PMID:20375354

  7. Cystic fibrosis diagnosed in an elderly man.

    PubMed

    Gilljam, Marita; Björck, Eva

    2004-01-01

    Although most patients with cystic fibrosis (CF) are diagnosed in early childhood, the diagnosis may be delayed for patients with mild symptoms or single-organ disease. We describe a man with known infertility and a history of productive cough diagnosed with CF at 61 years of age. The patient carries two mutations and one variant in the CF transmembrane conductance regulator gene: 394delTT, P99L and R75Q. During a 15-year follow-up time he has developed significant pulmonary disease.

  8. Nutrition and Growth in Cystic Fibrosis.

    PubMed

    Lusman, Sarah; Sullivan, Jillian

    2016-08-01

    Close attention to nutrition and growth is essential in caring for children with cystic fibrosis (CF). Growth and nutritional status should be monitored as part of routine CF care. Children with CF should achieve growth and nutritional status comparable with that of well-nourished children without CF. Children with CF are at risk for nutritional deficiencies. Optimal nutritional and growth status may be difficult to attain in this population given risk of insufficient caloric intake and likelihood of increased caloric expenditure. Various methods to attain optimal nutritional status may be used, including oral supplementation, behavioral treatment, pharmacotherapy, and enteral nutrition. PMID:27469181

  9. Congenital cystic adenomatoid malformation type I

    PubMed Central

    Ribeiro, Frederico Becker; Schultz, Regina

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is an hamartomatous congenital pulmonary airway malformation with incidence ranging between 1:10,000 and 1:35,000 newborns. Currently CCAM is classified into five groups according to clinical and pathological features. The clinical outcome varies depending on the subtype and the extent of involvement. The authors report the case of a premature male newborn with the prenatal diagnosis of CCAM Type 1 associated with cardiac right axis deviation, who died 67 hours after birth due to respiratory failure. In addition to the autopsy report of this rare entity, the authors present its classification and prognosis. PMID:26558243

  10. Cystic retroperitoneal lymphangioma in infants and children.

    PubMed

    Leonidas, J C; Brill, P W; Bhan, I; Smith, T H

    1978-04-01

    Retroperitoneal lymphangiomas are uncommon benign tumors usually presenting in early life. They may cause significant pressure on adjacent structures, most often with superior and medial displacement of the kidney and medial deviation of the ureter. Relative radiolucency on total body opacification during excretory urography, and features of a cystic structure on ultrasonography and computed tomography should further suggest the possibility of a retroperitoneal lymphangioma. Vascular stretching and displacement without neovascularity on angiography and contrast entry into the cysts on lower extremity lymphography are additional features, but such procedures are usually unnecessary.

  11. [Acquired cystic renal disease. Association with hypernephroma].

    PubMed

    Comesaña, E; Pesqueira, D; Tardáguila, F; De la Fuente, A; Antón, I; Vidal, L; Zungri, E

    1992-02-01

    Emergence of multiple bilateral renal cysts observed in patients undergoing periodic haemodialysis is 40%. The pathology, known as Acquired Cystic Renal Disease (A.C.R.D.) presents a high association to renal cancer. Two cases of A.C.R.D. and their association with hypernephroma, one resulting in secondary retroperitoneal haemorrhage and the other in intracystic haemorrhage, are presented. Forms and diagnosis are analyzed, insisting upon the need of monitoring the patients in haemodialysis from the point of view of tumour emergence.

  12. Retroperitoneal cystic neuroendocrine tumor. A case report.

    PubMed

    Scapinello, A; D'Amore, E S; Cavazzana, A O; Gramegna, V; Ninfo, V

    1995-10-01

    A 21 cm retroperitoneal cystic mass was excised from a 71 year old woman. The cyst was filled with a hemorrhagic fluid and contained a 5 cm parietal hemorrhagic nodule. On histology, the nodule was composed of a uniform population of round cells arranged in trabeculae and nests. The neoplastic cells were immunoreactive to cytokeratin, EMA, NSE, chromogranin A, pancreatic polypeptide (PP) and Gastrin (G). Ultrastructural observation of neurosecretory granules confirmed the neuroendocrine nature of the tumor. No other lesions were detected and a diagnosis of primary epithelial neuroendocrine tumor was rendered. The histogenesis of the tumor including the possibility of a paraganglionic origin is discussed.

  13. [Nutrition, cystic fibrosis and the digestive tract].

    PubMed

    Olveira, Gabriel; Olveira, Casilda

    2008-05-01

    The prevalence of hyponutrition in cystic fibrosis is high although it may vary according to the different studies. Detection of hyponutrition should be done by combining different methods, depending on their availability. However, the simplest and most validated criterion is to measure at each visit the weight (and height in children) in order to calculate the body mass index and categorizing hyponutrition according to absolute criteria: in adults < 18.5 kg/m(2), and in children as percentiles of the body mass index. Worsening of the nutritional status is directly related with the decrease in lung function parameters and it has been proposed as a morbidity (and even mortality) predictive factor in people with cystic fibrosis, independently of the level of pulmonary dysfunction. Exocrine pancreatic insufficiency is present is approximately 70-90% of the patients with cystic fibrosis and the genotype-phenotype correlation is high. Most of the patients with exocrine pancreatic insufficiency tolerate a high-fat diet provided that they are treated with pancreatic enzymes at appropriate doses. The prevalence of diabetes increases with age, reaching up 40% of the cases in patients older than 30 years. Clinical liver involvement is less prevalent (it approximately affects 1/3 of the patients). Other intestinal complications such as meconial ileus, gastroesophageal reflux, obstruction of the distal intestine, or fibrosing colon disease may also condition malnourishment. In patients with cystic fibrosis, a usual high-fat diet providing 120%-150% of the recommended calories is advised. If the nutritional goals are not achieved or maintained with diet modifications, artificial supplements may be added, although the recommendation for their use has not been endorsed by solid scientific evidences. The most frequently used preparations usually are polymeric or hypercaloric. The indications for enteral (through a tube, especially gastrostomy) or parenteral nutritional support are

  14. [Insights into cystic fibrosis-related bone disease].

    PubMed

    Braun, C; Bacchetta, J; Reix, P

    2016-08-01

    With the increasing life expectancy of patients with cystic fibrosis (CF), prevalence of late complications such as CF-related bone disease (CFBD) has increased. It was initially described in 24% of the adult population with CF and has also been reported in the pediatric population. CFBD is multifactorial and progresses in different steps. Both decreased bone formation and increased bone resorption (in different amounts) are observed. CFBD is likely primitive (directly related to the CFTR defect itself), but is also worsened by acquired secondary factors such as lung infections, chronic inflammation, denutrition, vitamin deficiency, and decreased physical activity. CFBD may be clinically apparent (i.e., mainly vertebral and costal fractures), or clinically asymptomatic (therefore corresponding to abnormalities in bone density and architecture). CFBD management mainly aims to prevent the occurrence of fractures. Prevention and regular monitoring of bone disease as early as 8 years of age is of the utmost importance, as is the control of possible secondary deleterious CFBD factors. New radiological tools, such as high-resolution peripheral quantitative computed tomography, allow an accurate evaluation of cortical and trabecular bone micro-architecture in addition to compartmental density; as such, they will likely improve the assessment of the bone fracture threat in CF patients in the near future. PMID:27345551

  15. Cystic fibrosis chronic rhinosinusitis: A comprehensive review

    PubMed Central

    Chaaban, Mohamad R.; Kejner, Alexandra; Rowe, Steven M.

    2013-01-01

    Background: Advances in the care of patients with cystic fibrosis (CF) have improved pulmonary outcomes and survival. In addition, rapid developments regarding the underlying genetic and molecular basis of the disease have led to numerous novel targets for treatment. However, clinical and basic scientific research focusing on therapeutic strategies for CF-associated chronic rhinosinusitis (CRS) lags behind the evidence-based approaches currently used for pulmonary disease. Methods: This review evaluates the available literature and provides an update concerning the pathophysiology, current treatment approaches, and future pharmaceutical tactics in the management of CRS in patients with CF. Results: Optimal medical and surgical strategies for CF CRS are lacking because of a dearth of well-performed clinical trials. Medical and surgical interventions are supported primarily by level 2 or 3 evidence and are aimed at improving clearance of mucus, infection, and inflammation. A number of novel therapeutics that target the basic defect in the cystic fibrosis transmembrane conductance regulator channel are currently under investigation. Ivacaftor, a corrector of the G551D mutation, was recently approved by the Food and Drug Administration. However, sinonasal outcomes using this and other novel drugs are pending. Conclusion: CRS is a lifelong disease in CF patients that can lead to substantial morbidity and decreased quality of life. A multidisciplinary approach will be necessary to develop consistent and evidence-based treatment paradigms. PMID:24119602

  16. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

    PubMed Central

    Corradi, Valentina; Vergani, Paola; Tieleman, D. Peter

    2015-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) is a member of the ATP-binding cassette (ABC) transporter superfamily. CFTR controls the flow of anions through the apical membrane of epithelia. Dysfunctional CFTR causes the common lethal genetic disease cystic fibrosis. Transitions between open and closed states of CFTR are regulated by ATP binding and hydrolysis on the cytosolic nucleotide binding domains, which are coupled with the transmembrane (TM) domains forming the pathway for anion permeation. Lack of structural data hampers a global understanding of CFTR and thus the development of “rational” approaches directly targeting defective CFTR. In this work, we explored possible conformational states of the CFTR gating cycle by means of homology modeling. As templates, we used structures of homologous ABC transporters, namely TM(287–288), ABC-B10, McjD, and Sav1866. In the light of published experimental results, structural analysis of the transmembrane cavity suggests that the TM(287–288)-based CFTR model could correspond to a commonly occupied closed state, whereas the McjD-based model could represent an open state. The models capture the important role played by Phe-337 as a filter/gating residue and provide structural information on the conformational transition from closed to open channel. PMID:26229102

  17. Cystic echinococcosis is an occupational disease?

    PubMed

    Youssefi, Mohammad Reza; Mirshafiei, Sepide; Moshfegh, Zeinab; Soleymani, Norredin; Rahimi, Mohammad Taghi

    2016-09-01

    Cystic echinococcosis (CE) is considered as an occupational infection and among different careers greengroceries have a close contact with raw vegetables which can transmit eggs of Echinococcus granulosus. Therefore, the objective of this survey was to determine the seroprevalence of CE among greengroceries using ELISA test in Mazandaran and Gilan Provinces, northern Iran. Overall, 160 serum samples (60 male and 100 female) were collected from greengroceries in Mazandaran and Gilan Provinces, 2012. Sera were surveyed employing ELISA assay for diagnosis of CE. In addition, before sampling, a questionnaire was filled out for each subject. Seropositivity was 2.4 % (four cases) and females 1.8 % (three cases) were more positive compared to males 0.8 % (one case). Age group of 40-60 years encompassed the highest rate of positivity (1.8 %) and the least rate was in 20-40 years old age group (0 %). Besides, 1.8 % of seropositive subjects were dog owner, unaware of the disease and lives in rural areas. In conclusion, seroprevalence of cystic hydatid disease among greengroceries is relatively high in Mazandaran and Gilan Provinces. More continuous serological researches and preventive measures should be taken into consideration owing to the significance of the disease. PMID:27605752

  18. Targeting ion channels in cystic fibrosis.

    PubMed

    Mall, Marcus A; Galietta, Luis J V

    2015-09-01

    Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause a characteristic defect in epithelial ion transport that plays a central role in the pathogenesis of cystic fibrosis (CF). Hence, pharmacological correction of this ion transport defect by targeting of mutant CFTR, or alternative ion channels that may compensate for CFTR dysfunction, has long been considered as an attractive approach to a causal therapy of this life-limiting disease. The recent introduction of the CFTR potentiator ivacaftor into the therapy of a subgroup of patients with specific CFTR mutations was a major milestone and enormous stimulus for seeking effective ion transport modulators for all patients with CF. In this review, we discuss recent breakthroughs and setbacks with CFTR modulators designed to rescue mutant CFTR including the common mutation F508del. Further, we examine the alternative chloride channels TMEM16A and SLC26A9, as well as the epithelial sodium channel ENaC as alternative targets in CF lung disease, which remains the major cause of morbidity and mortality in patients with CF. Finally, we will focus on the hurdles that still need to be overcome to make effective ion transport modulation therapies available for all patients with CF irrespective of their CFTR genotype.

  19. CFTR protein repair therapy in cystic fibrosis.

    PubMed

    Quintana-Gallego, Esther; Delgado-Pecellín, Isabel; Calero Acuña, Carmen

    2014-04-01

    Cystic fibrosis is a single gene, autosomal recessive disorder, in which more than 1,900 mutations grouped into 6 classes have been described. It is an example a disease that could be well placed to benefit from personalised medicine. There are currently 2 very different approaches that aim to correct the basic defect: gene therapy, aimed at correcting the genetic alteration, and therapy aimed at correcting the defect in the CFTR protein. The latter is beginning to show promising results, with several molecules under development. Ataluren (PTC124) is a molecule designed to make the ribosomes become less sensitive to the premature stop codons responsible for class i mutations. Lumacaftor (VX-809) is a CFTR corrector directed at class ii mutations, among which Phe508del is the most frequent, with encouraging results. Ivacaftor (VX-770) is a potentiator, the only one marketed to date, which has shown good efficacy for the class iii mutation Gly551Asp in children over the age of 6 and adults. These drugs, or a combination of them, are currently undergoing various clinical trials for other less common genetic mutations. In the last 5 years, CFTR has been designated as a therapeutic target. Ivacaftor is the first drug to treat the basic defect in cystic fibrosis, but only provides a response in a small number of patients. New drugs capable of restoring the CFTR protein damaged by the most common mutations are required.

  20. [CYSTIC FIBROSIS: CARE OF THE LUNG DISEASE].

    PubMed

    Hubert, Dominique

    2015-10-01

    (Rh-DNase) and/or hydration (hypertonic saline) nebulisations, Moreover, treatment with inhaled antibiotics is indicated (tobramycin, colistine or aztreonam lysine) for chronic lung infection with Pseudomonas aeruginosa (PA). The treatment regimen also includes bronchodilators for bronchospasms and azithromycin. Regular physical activity is recommended. A treatment potentiating the CFTR protein, ivacaftor, is now indicated for patients with a class 3 mutation. Initial bronchial infection with PA must be treated as soon as possible in order to eradicate the pathogen. Pulmonary exacerbations require antibiotic courses, either orally or intravenously for PA infection. Complications require hospitalisation, with thoracic chest tube placement for a pneumothorax or bronchial artery embolisation for massive hemoptysis. Oxygen therapy and non-invasive ventilation with a nasal mask become necessary when respiratory insufficiency progresses, justifying the initiation of the lung transplant process. Lung disease affects the prognosis of cystic fibrosis, therefore its management in cystic fibrosis centres is of utmost importance. Maintenance treatment mainly relies on daily chest physiotherapy, which can be facilitated by mucolytic PMID:26749716

  1. Stereotaxic intracavitary irradiation for cystic craniopharyngiomas

    SciTech Connect

    Pollack, I.F.; Lunsford, L.D.; Slamovits, T.L.; Gumerman, L.W.; Levine, G.; Robinson, A.G.

    1988-02-01

    Stereotaxic intracavitary irradiation with instillation of phosphorus-32 (/sup 32/P) colloidal chromic phosphate was performed in nine patients with cystic craniopharyngiomas. Serial neurological, ophthalmological, neuroendocrinological, and radiological examinations were performed before and after treatment. Dosimetry was determined based on a computerized tomography (CT) estimation of tumor volume, and was calculated to provide a tumoricidal dose (200 to 300 Gy) to the cyst wall. The follow-up period ranged from 14 to 45 months (mean 27 months). After treatment, all nine patients showed improvement of symptoms and radiological evidence of cyst regression. Because of an expanding solid component producing recurrent symptoms, one patient required a craniotomy 14 months after isotope instillation. Three of five patients with impaired visual acuity before surgery had significant improvement in acuity after treatment. Preoperative visual field defects in eight patients improved in four after /sup 32/P therapy. Of seven patients with preoperative endocrine abnormalities, one individual showed almost complete normalization and another had improvement in endocrine function. Patients who exhibited residual neuroendocrine function before isotope instillation developed no significant deterioration in endocrine status during the follow-up period. The findings suggest that stereotaxic intracavitary irradiation is a safe and effective treatment which should be considered as the initial surgery for cystic craniopharyngiomas.

  2. CFTR protein repair therapy in cystic fibrosis.

    PubMed

    Quintana-Gallego, Esther; Delgado-Pecellín, Isabel; Calero Acuña, Carmen

    2014-04-01

    Cystic fibrosis is a single gene, autosomal recessive disorder, in which more than 1,900 mutations grouped into 6 classes have been described. It is an example a disease that could be well placed to benefit from personalised medicine. There are currently 2 very different approaches that aim to correct the basic defect: gene therapy, aimed at correcting the genetic alteration, and therapy aimed at correcting the defect in the CFTR protein. The latter is beginning to show promising results, with several molecules under development. Ataluren (PTC124) is a molecule designed to make the ribosomes become less sensitive to the premature stop codons responsible for class i mutations. Lumacaftor (VX-809) is a CFTR corrector directed at class ii mutations, among which Phe508del is the most frequent, with encouraging results. Ivacaftor (VX-770) is a potentiator, the only one marketed to date, which has shown good efficacy for the class iii mutation Gly551Asp in children over the age of 6 and adults. These drugs, or a combination of them, are currently undergoing various clinical trials for other less common genetic mutations. In the last 5 years, CFTR has been designated as a therapeutic target. Ivacaftor is the first drug to treat the basic defect in cystic fibrosis, but only provides a response in a small number of patients. New drugs capable of restoring the CFTR protein damaged by the most common mutations are required. PMID:24095197

  3. Pancreatic pseudocyst or a cystic tumor of the pancreas?

    PubMed Central

    Rabie, Mohammad Ezzedien; El Hakeem, Ismail; Al Skaini, Mohammad Saad; El Hadad, Ahmad; Jamil, Salim; Tahir Shah, Mian; Obaid, Mahmoud

    2014-01-01

    Pancreatic pseudocysts are the most common cystic lesions of the pancreas and may complicate acute pancreatitis, chronic pancreatitis, or pancreatic trauma. While the majority of acute pseudocysts resolve spontaneously, few may require drainage. On the other hand, pancreatic cystic tumors, which usually require extirpation, may disguise as pseudocysts. Hence, the distinction between the two entities is crucial for a successful outcome. We conducted this study to highlight the fundamental differences between pancreatic pseudocysts and cystic tumors so that relevant management plans can be devised. We reviewed the data of patients with pancreatic cystic lesions that underwent intervention between June 2007 and December 2010 in our hospital. We identified 9 patients (5 males and 4 females) with a median age of 40 years (range, 30–70 years). Five patients had pseudocysts, 2 had cystic tumors, and 2 had diseases of undetermined pathology. Pancreatic pseudocysts were treated by pseudocystogastrostomy in 2 cases and percutaneous drainage in 3 cases. One case recurred after percutaneous drainage and required pseudocystogastrostomy. The true pancreatic cysts were serous cystadenoma, which was treated by distal pancreatectomy, and mucinous cystadenocarcinoma, which was initially treated by drainage, like a pseudocyst, and then by distal pancreatectomy when its true nature was revealed. We conclude that every effort should be exerted to distinguish between pancreatic pseudocysts and cystic tumors of the pancreas to avoid the serious misjudgement of draining rather than extirpating a pancreatic cystic tumor. Additionally, percutaneous drainage of a pancreatic pseudocyst is a useful adjunct that may substitute for surgical drainage. PMID:23958054

  4. Cystic Fibrosis Transmembrane Conductance Regulator. Implications in Cystic Fibrosis and Chronic Obstructive Pulmonary Disease.

    PubMed

    Cantin, André M

    2016-04-01

    Cystic fibrosis (CF) and chronic obstructive pulmonary disease (COPD) have traditionally been viewed as two distinct entities of unrelated origins. However, molecular, cellular, and clinical studies have revealed that cystic fibrosis transmembrane conductance regulator (CFTR) protein dysfunction is common to both conditions, one (CF) being defined genetically and the other (COPD) as an acquired CFTR deficiency. Multiple molecular mechanisms of cigarette smoke-induced CFTR dysfunction have been reported. More importantly, considerable evidence of cigarette smoke-induced CFTR dysfunction in several respiratory and nonrespiratory tissues have been confirmed, making CFTR a target that cannot be overlooked in our quest to understand COPD and improve therapies for individuals affected by this disease. This review summarizes the molecular, cellular, and clinical evidence that CFTR dysfunction is induced by cigarette smoke exposure both in vitro and in vivo, and explores how this may contribute to the development of COPD. PMID:27115950

  5. Physiological impact of abnormal lipoxin A₄ production on cystic fibrosis airway epithelium and therapeutic potential.

    PubMed

    Higgins, Gerard; Ringholz, Fiona; Buchanan, Paul; McNally, Paul; Urbach, Valérie

    2015-01-01

    Lipoxin A4 has been described as a major signal for the resolution of inflammation and is abnormally produced in the lungs of patients with cystic fibrosis (CF). In CF, the loss of chloride transport caused by the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel gene results in dehydration, mucus plugging, and reduction of the airway surface liquid layer (ASL) height which favour chronic lung infection and neutrophil based inflammation leading to progressive lung destruction and early death of people with CF. This review highlights the unique ability of LXA4 to restore airway surface hydration, to stimulate airway epithelial repair, and to antagonise the proinflammatory program of the CF airway, circumventing some of the most difficult aspects of CF pathophysiology. The report points out novel aspects of the cellular mechanism involved in the physiological response to LXA4, including release of ATP from airway epithelial cell via pannexin channel and subsequent activation of and P2Y11 purinoreceptor. Therefore, inadequate endogenous LXA4 biosynthesis reported in CF exacerbates the ion transport abnormality and defective mucociliary clearance, in addition to impairing the resolution of inflammation, thus amplifying the vicious circle of airway dehydration, chronic infection, and inflammation.

  6. Physiological Impact of Abnormal Lipoxin A4 Production on Cystic Fibrosis Airway Epithelium and Therapeutic Potential

    PubMed Central

    Higgins, Gerard; McNally, Paul; Urbach, Valérie

    2015-01-01

    Lipoxin A4 has been described as a major signal for the resolution of inflammation and is abnormally produced in the lungs of patients with cystic fibrosis (CF). In CF, the loss of chloride transport caused by the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl− channel gene results in dehydration, mucus plugging, and reduction of the airway surface liquid layer (ASL) height which favour chronic lung infection and neutrophil based inflammation leading to progressive lung destruction and early death of people with CF. This review highlights the unique ability of LXA4 to restore airway surface hydration, to stimulate airway epithelial repair, and to antagonise the proinflammatory program of the CF airway, circumventing some of the most difficult aspects of CF pathophysiology. The report points out novel aspects of the cellular mechanism involved in the physiological response to LXA4, including release of ATP from airway epithelial cell via pannexin channel and subsequent activation of and P2Y11 purinoreceptor. Therefore, inadequate endogenous LXA4 biosynthesis reported in CF exacerbates the ion transport abnormality and defective mucociliary clearance, in addition to impairing the resolution of inflammation, thus amplifying the vicious circle of airway dehydration, chronic infection, and inflammation. PMID:25866809

  7. Late presentation of congenital cystic adenomatoid malformation of the lung

    SciTech Connect

    Hulnick, D.H.; Naidich, D.P.; McCauley, D.I.; Feiner, H.D.; Avitabile, A.M.; Greco, M.A.; Genieser, N.B.

    1984-06-01

    Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

  8. Remnant cystic duct adenocarcinoma presenting as gastric outlet obstruction

    PubMed Central

    Lo, Samuel Tsoon Wuan; Cheng, Yue; Cheung, Frances; Tang, Chung Ngai

    2016-01-01

    Only a few case reports of remnant cystic duct carcinoma exist. The presented case of remnant cystic duct carcinoma with invasion to pylorus and bulbus of duodenum leading to gastric outlet obstruction was the first of its kind. We reviewed all cases of remnant cystic duct carcinoma that we found in the literature and summarized its definition, presentation, extent of invasion and clinical outcome after operation. The diagnosis can be difficult due to the rarity of disease, locally advanced nature of disease and distorted postoperative anatomy. A high index of suspicion can increase the likelihood of a preoperative diagnosis. PMID:27154747

  9. Flow in Idealised Compliant Human Cystic Duct Models

    NASA Astrophysics Data System (ADS)

    Al-Atabi, M.; Chin, S. B.; Beck, S.; Luo, X. Y.

    The functions of the cystic duct and the role of its complicated geometry (in particular the valves of Heister), in the delivery of bile flow have always been a subject of speculation. This paper reports on an experimental investigation of the flow in idealised, compliant cystic duct models. The valves of Heister were idealised using eight semi-circular alternating baffles fitted inside the compliant tubes. These tubes were arranged in configurations representing the anatomical configurations of real cystic ducts. Models both with and without baffles were tested for comparison. The results show that the valves of Heister seem to play a role in facilitating both the filling and emptying of the gallbladder.

  10. Laparoscopic resection of a retroperitoneal cystic lymphangioma in an adult.

    PubMed

    Kasza, Jason; Brody, Fredrick J; Khambaty, Fatima; Vaziri, Khashayar; Wallace, Brian

    2010-06-01

    Cystic lymphangiomas are rare, benign anomalies of the lymphatic system. More than 95% of cystic lymphangiomas occur in the head, neck, and axilla with only 1% in the retroperitoneum. Most of these cases are diagnosed by the second year of life with only a handful of adult cases. Once a symptomatic cystic lesion of the abdomen or retroperitoneum is diagnosed, treatment usually consists of surgical excision. Traditionally, surgery requires a laparotomy. This paper describes a patient with a retroperitoneal cyst who underwent a successful laparoscopic resection. The etiology and management of adult retroperitoneal cysts are reviewed as well.

  11. Cystic change in primary paediatric optic nerve sheath meningioma.

    PubMed

    Narayan, Daniel; Rajak, Saul; Patel, Sandy; Selva, Dinesh

    2016-08-01

    Primary optic nerve sheath meningiomas (PONSM) are rare in children. Cystic meningiomas are an uncommon subgroup of meningiomas. We report a case of paediatric PONSM managed using observation alone that underwent cystic change and radiological regression. A 5-year-old girl presented with visual impairment and proptosis. Magnetic resonance (MR) imaging demonstrated a PONSM. The patient was left untreated and followed up with regular MR imaging. Repeat imaging at 16 years of age showed the tumour had started to develop cystic change. Repeat imaging at 21 years of age showed the tumour had decreased in size. PMID:27310300

  12. Influenza vaccination in children with cystic fibrosis.

    PubMed

    Patria, Maria Francesca; Longhi, Benedetta; Esposito, Susanna

    2013-04-01

    Cystic fibrosis (CF) is an inherited autosomal recessive disease characterized by progressive pulmonary damage and respiratory failure. It is known that bacterial infections play a critical role in the development of significant lung damage, whereas the role of respiratory viruses in CF pulmonary exacerbations and the relationship between viral infections and the progression of lung damage are uncertain. Health authorities throughout the world recommend influenza vaccination for CF patients. The aim of this review is to analyze the impact of seasonal and pandemic influenza on CF patients and data concerning influenza vaccination in order to assess the current situation and identify areas for future study. As data are limited, further well-constructed clinical studies of the effectiveness of influenza vaccination on the main clinical outcome measures of pulmonary function and nutritional status in patients with CF are required.

  13. Control programme for cystic echinococcosis in Uruguay

    PubMed Central

    Irabedra, Pilar; Ferreira, Ciro; Sayes, Julio; Elola, Susana; Rodríguez, Miriam; Morel, Noelia; Segura, Sebastian; dos Santos, Estela; Guisantes, Jorge A

    2016-01-01

    Cystic echinococcosis is a highly endemic parasitic zoonosis that is present in the Southern Cone countries of America. For several decades, various prevention and control programmes have been implemented in different countries and regions, with varying results. In Uruguay, a new control programme was implemented in 2006 that employed new strategies for canine diagnosis and treatment, dog population control, diagnosis in humans, epidemiological surveillance, and health education, including community participation. The control programme in Uruguay addresses the control and surveillance of the disease from a holistic perspective based on Primary Health Care, which has strengthened the community’s participation in developing and coordinating activities in an interdisciplinary manner. Similarly, the control programme that is currently implemented is based on a risk-focused approach. The surveillance and control measures were focused on small villages and extremely poor urban areas. In this study, the strategies used and the results obtained from 2008-2013 are analysed and discussed. PMID:27223652

  14. Scoliosis in cystic fibrosis - an appraisal

    SciTech Connect

    Paling, M.R.; Spasovsky-Chernick, M.

    1982-03-01

    An unusually high prevalence (10%) of scoliosis is described in a series of 151 patients aged four years and older with cystic fibrosis. The scolioses were of the late onset (juvenile and adolescent) type, being typically thoracic with the curve convex to the right, although there was no significant preference for either sex. No direct relationship was found between the spinal curvature and the severity or distribution of the lung disease, although the worse scolioses tended to occur in patients with relatively severe pulmonary involvement. There was no evidence of metabolic bone disease as a predisposing cause. Some indication of a familial tendency towards scoliosis was apparent, and a genetic or constitutional basis is postulated with an unknown precipitating factor.

  15. Retroperitoneal bronchogenic cyst mimicking pancreatic cystic lesion.

    PubMed

    Wang, Shin-E; Tsai, Yi-Fang; Su, Cheng-Hsi; Shyr, Yi-Ming; Lee, Rheun-Chuan; Tsai, Wan-Chen; Li, Fen-Yau; Chen, Tien-Hua; Wu, Chew-Wun; Lui, Wing-Yiu

    2006-11-01

    Retroperitoneal bronchogenic cyst is detected extremely rarely and often masquerades as other diseases. Here, we report 2 cases of retroperitoneal bronchogenic cyst mimicking pancreatic mucinous tumor. Histologically, both cysts were composed of ciliated respiratory-like epithelium with abundant mucin content, smooth muscle bundles and mature cartilage, compatible with the diagnosis of retroperitoneal bronchogenic cyst. In addition to these 2 cases, another 42 retroperitoneal bronchogenic cysts reported in the English literature were collected for review and analysis. Twelve (28%) were located over the peripancreatic area. Just over half (51%) of them were asymptomatic. No accurate preoperative diagnosis could be made for any of the lesions. About a third (33.3%) of the peripancreatic retroperitoneal bronchogenic cysts masqueraded as pancreatic cystic lesions.

  16. Chronic Rhinosinusitis in Patients with Cystic Fibrosis.

    PubMed

    Hamilos, Daniel L

    2016-01-01

    Chronic rhinosinusitis (CRS) is highly prevalent in patients with cystic fibrosis (CF) and accounts for significant morbidity and contribution to CF lung disease. Mutations of the cystic fibrosis transmembrane regulator gene occur with increased prevalence in patients with CRS without CF, suggesting some contribution to CRS pathophysiology. Nasal polyps (NPs) occur with increased prevalence in patients with CF of all ages and have a more neutrophilic appearance with fewer eosinophils and increased submucosal glandular elements in comparison to NPs from patients without CF. Mainstays of medical treatment include isotonic saline irrigations and topical intranasal glucocorticoids, with some evidence that topical intranasal glucocorticoids reduce NP size. Although inhaled hypertonic saline (7%) has been widely studied as a mucolytic agent for CF lung disease, there are no reports of its use in CF CRS. Mucolytics have also not been studied as a treatment for CRS in CF, and most evidence does not support their use for CF lung disease. Nasally nebulized dornase alfa (recombinant human deoxyribonuclease) following sinus surgery shows promise for treatment. Other unproven therapies include addition of baby shampoo to isotonic saline to potentially thin mucus and help prevent biofilm formation. There are no data to support the use of low-dose oral macrolide antibiotics or the use of prophylactic oral antibiotics for CRS in patients with CF. However, there is some support for the use of topical antibiotics, including colistimethate sodium or tobramycin, administered as a sinus irrigation or antral lavage in patients following sinus surgery when susceptible bacteria are cultured. Key components of CF sinus surgical management include extensive surgery to ensure that the maxillary, frontal, sphenoid, and ethmoid sinuses are all widely opened with smoothing of bony overhangs to prevent mucus retention and bacterial recolonization, postoperative meticulous daily nasal irrigations

  17. [Mature cystic teratoma of the ovary with a small ganglioneuroma].

    PubMed

    Marucci, G; Collina, G

    2006-02-01

    A case of ganglioneuroma arising within a cystic mature teratoma of the ovary in a 34-year-old woman is reported. Patient underwent right adnexectomy. The ovary was completely replaced by a bilocular cystic lesion, measuring 8 cm in diameter and filled with adipose tissue and pilosebaceous material. Microscopically the cyst was composed by a mature cystic teratoma containing skin with dermal appendages, fatty tissue and bronchial epithelium. Furthermore a nodule (0.5 cm in size) composed of mature ganglion cells, axons and Schwann cells, was identified. Ganglion cells were positive for NSE and synaptophysin, while Schwann cells stained positively with S100 protein and GFAP. To the best of our knowledgment this is the first reported cases of ganglioneuroma arisen within a cystic mature teratoma of the ovary.

  18. Hydrator Therapies for Chronic Bronchitis. Lessons from Cystic Fibrosis.

    PubMed

    Bennett, William D; Henderson, Ashley G; Donaldson, Scott H

    2016-04-01

    Patients with the chronic bronchitis form of chronic obstructive pulmonary disease and cystic fibrosis share similar clinical features, including mucus obstruction of airways and the development of chronic/recurrent airways infections that often manifest as disease exacerbations. There is growing evidence that these diseases may have parallels in disease pathogenesis as well, including cystic fibrosis transmembrane conductance regulator dysfunction, mucus dehydration, and defective mucociliary clearance. As progress is made in the development of therapies that target the basic defects that lead to cystic fibrosis lung disease, it is possible that similar approaches could also benefit patients with chronic bronchitis. A deeper understanding of how tobacco smoke and other triggers of chronic bronchitis actually lead to disease, and exploration of the concept that therapies that restore cystic fibrosis transmembrane conductance regulator function, mucus hydration, and/or mucociliary clearance may benefit patients with chronic bronchitis, hold the prospect of significant progress in treating this prevalent disease. PMID:27115955

  19. [A method for the combined treatment of chronic cystic sinusitis].

    PubMed

    Svatko, L G; Krasnozhen, V N; Pokrovskaia, E M

    2008-01-01

    A pathogenetically substantiated method is proposed for the combined treatment of chronic cystic sinusitis that includes sparing surgical intervention and postoperative treatment with ximedone, a regenerator drug with immunotropic activity. PMID:19156109

  20. Florid Cystic Endosalpingiosis (Müllerianosis) in Pregnancy

    PubMed Central

    Montero-Balaguer, Beatriz; Desantes-Real, Domingo; Perales-Marín, Alfredo

    2016-01-01

    Cystic endosalpingiosis refers to the existence of heterotopic cystic müllerian tissue resembling structures of the fallopian tubes. We report a case of florid cystic endosalpingiosis discovered in a pregnant woman during a scheduled cesarean section and review the current knowledge of this disease. A 30-year-old woman with a twin pregnancy attended the hospital day unit at term. The first twin was in a breech presentation and a cesarean section was scheduled. During the procedure the uterine fundus and part of the body were seen completely seeded with multitude of cyst-like structures resembling hydatids of Morgagni. The immunohistochemistry analysis showed a positive expression for PAX8 (Box-8), CK7, and estrogen and progesterone receptors. The lesions did not disappear after pregnancy. Cystic endosalpingiosis should be always borne in mind, even in pregnancy, when it comes to making the differential diagnosis of a pelvic or systemic multicystic mass. PMID:27668111

  1. Florid Cystic Endosalpingiosis (Müllerianosis) in Pregnancy.

    PubMed

    Morales-Roselló, José; Pamplona-Bueno, Loida; Montero-Balaguer, Beatriz; Desantes-Real, Domingo; Perales-Marín, Alfredo

    2016-01-01

    Cystic endosalpingiosis refers to the existence of heterotopic cystic müllerian tissue resembling structures of the fallopian tubes. We report a case of florid cystic endosalpingiosis discovered in a pregnant woman during a scheduled cesarean section and review the current knowledge of this disease. A 30-year-old woman with a twin pregnancy attended the hospital day unit at term. The first twin was in a breech presentation and a cesarean section was scheduled. During the procedure the uterine fundus and part of the body were seen completely seeded with multitude of cyst-like structures resembling hydatids of Morgagni. The immunohistochemistry analysis showed a positive expression for PAX8 (Box-8), CK7, and estrogen and progesterone receptors. The lesions did not disappear after pregnancy. Cystic endosalpingiosis should be always borne in mind, even in pregnancy, when it comes to making the differential diagnosis of a pelvic or systemic multicystic mass. PMID:27668111

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

    PubMed

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

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

  3. Florid Cystic Endosalpingiosis (Müllerianosis) in Pregnancy

    PubMed Central

    Montero-Balaguer, Beatriz; Desantes-Real, Domingo; Perales-Marín, Alfredo

    2016-01-01

    Cystic endosalpingiosis refers to the existence of heterotopic cystic müllerian tissue resembling structures of the fallopian tubes. We report a case of florid cystic endosalpingiosis discovered in a pregnant woman during a scheduled cesarean section and review the current knowledge of this disease. A 30-year-old woman with a twin pregnancy attended the hospital day unit at term. The first twin was in a breech presentation and a cesarean section was scheduled. During the procedure the uterine fundus and part of the body were seen completely seeded with multitude of cyst-like structures resembling hydatids of Morgagni. The immunohistochemistry analysis showed a positive expression for PAX8 (Box-8), CK7, and estrogen and progesterone receptors. The lesions did not disappear after pregnancy. Cystic endosalpingiosis should be always borne in mind, even in pregnancy, when it comes to making the differential diagnosis of a pelvic or systemic multicystic mass.

  4. Florid Cystic Endosalpingiosis (Müllerianosis) in Pregnancy.

    PubMed

    Morales-Roselló, José; Pamplona-Bueno, Loida; Montero-Balaguer, Beatriz; Desantes-Real, Domingo; Perales-Marín, Alfredo

    2016-01-01

    Cystic endosalpingiosis refers to the existence of heterotopic cystic müllerian tissue resembling structures of the fallopian tubes. We report a case of florid cystic endosalpingiosis discovered in a pregnant woman during a scheduled cesarean section and review the current knowledge of this disease. A 30-year-old woman with a twin pregnancy attended the hospital day unit at term. The first twin was in a breech presentation and a cesarean section was scheduled. During the procedure the uterine fundus and part of the body were seen completely seeded with multitude of cyst-like structures resembling hydatids of Morgagni. The immunohistochemistry analysis showed a positive expression for PAX8 (Box-8), CK7, and estrogen and progesterone receptors. The lesions did not disappear after pregnancy. Cystic endosalpingiosis should be always borne in mind, even in pregnancy, when it comes to making the differential diagnosis of a pelvic or systemic multicystic mass.

  5. What Are the Signs and Symptoms of Cystic Fibrosis?

    MedlinePlus

    ... from the NHLBI on Twitter. What Are the Signs and Symptoms of Cystic Fibrosis? The signs and ... mucus that contains blood and bacteria. Respiratory System Signs and Symptoms People who have CF have thick, ...

  6. Benign Cystic Peritoneal Mesothelioma Revealed by Small Bowel Obstruction.

    PubMed

    Bray Madoué, Kaimba; Boniface, Moifo; Annick Laure, Edzimbi; Pierre, Herve

    2016-01-01

    Benign cystic peritoneal mesothelioma is a rare tumor which frequently occurs in women of reproductive age. Abdominal pain associated with pelvic or abdominal mass is the common clinical presentation. We report the case of a 22-year-old woman with a pathological proved benign cystic mesothelioma of the peritoneum revealed by a small bowel obstruction and a painful left-sided pelvic mass with signs of psoitis. Contrast enhanced abdominal CT-scan demonstrated a large pelvic cystic mass with mass effect on rectosigmoid and pelvic organs. The patient underwent surgical removal of the tumor. Pathological examination revealed the diagnosis of benign cystic mesothelioma of the peritoneum. The outcome was excellent with a 12-month recoil.

  7. Benign Cystic Peritoneal Mesothelioma Revealed by Small Bowel Obstruction

    PubMed Central

    Bray Madoué, Kaimba; Boniface, Moifo; Annick Laure, Edzimbi; Pierre, Herve

    2016-01-01

    Benign cystic peritoneal mesothelioma is a rare tumor which frequently occurs in women of reproductive age. Abdominal pain associated with pelvic or abdominal mass is the common clinical presentation. We report the case of a 22-year-old woman with a pathological proved benign cystic mesothelioma of the peritoneum revealed by a small bowel obstruction and a painful left-sided pelvic mass with signs of psoitis. Contrast enhanced abdominal CT-scan demonstrated a large pelvic cystic mass with mass effect on rectosigmoid and pelvic organs. The patient underwent surgical removal of the tumor. Pathological examination revealed the diagnosis of benign cystic mesothelioma of the peritoneum. The outcome was excellent with a 12-month recoil. PMID:27066288

  8. [Retroperitoneal cystic lymphangioma. Preoperative diagnosis. Apropos of a case].

    PubMed

    Guérin, E; Babin, C; Moulle, P; Barret, F

    1987-11-01

    Retroperitoneal cystic lymphangioma is an uncommon tumor. One case is reported, with surgical confirmation. Authors point out the diagnostic value of ultrasonography and computed tomography in the pre-operative diagnosis.

  9. CT findings in complications of acquired renal cystic disease.

    PubMed

    Soffer, O; Miller, L R; Lichtman, J B

    1987-01-01

    A 42-year-old man with end-stage renal disease developed acquired renal cystic disease. The left kidney underwent tumorous degeneration necessitating nephrectomy. Eight months later acute hemorrhagic renal cyst rupture culminated in right nephrectomy.

  10. Cystic fibrosis-related diabetes: a distinct condition.

    PubMed

    Cano Megías, Marta; González Albarrán, Olga

    2015-01-01

    Cystic fibrosis is the most common fatal inherited autosomal recessive disease in Caucasians, affecting approximately one out of every 2,000 births. Survival of patients with cystic fibrosis has significantly improved due to advances in respiratory and nutritional care, and their current average life expectancy is 30-40 years. Development of cystic fibrosis-related diabetes is a comorbidity that increases with age and may reach a prevalence up to 50% in adults. Its development is associated to impaired lung function and nutritional status, and early diagnosis and treatment are therefore essential to improve quality of life and performance status. Insulin therapy for diabetes and other early carbohydrate metabolism disorders may improve lung function and nutritional status of patients with cystic fibrosis. PMID:25151429

  11. beta2 adrenoceptor gene polymorphisms in cystic fibrosis lung disease.

    PubMed

    Büscher, Rainer; Eilmes, Katrin Jennifer; Grasemann, Hartmut; Torres, Brian; Knauer, Nicola; Sroka, Karin; Insel, Paul A; Ratjen, Felix

    2002-07-01

    The cystic fibrosis membrane conductance regulator can be activated through beta2-adrenoceptor (beta2AR) stimulation. We tested the hypothesis that coding sequence polymorphisms in the beta2AR gene contribute to the disease state in patients with cystic fibrosis. The Arg16Gly, Gln27Glu, and Thr164Ile beta2AR polymorphisms were studied by specific polymerase chain reaction and restriction fragment length polymorphism analysis in 126 cystic fibrosis patients. Forced expiratory volume in 1 s was significantly (P < 0.05) reduced in cystic fibrosis patients carrying the Gly16 allele in either homozygous or heterozygous form (Gly16Gly + Arg16Gly) compared to patients homozygous for the Arg16 allele (60.3 +/- 3.5% versus 75.7 +/- 4.9% predicted). Similarly, forced vital capacity and flows at lower lung volumes were significantly (P < 0.05 and P < 0.01) lower in cystic fibrosis patients carrying the Gly16 allele. In addition, the Gly16 allele was associated with a greater 5 year decline in pulmonary function (P < 0.01). Bronchodilator responses to albuterol were not significantly different between the groups. The Thr164Ile variant was found in four patients; these patients had markedly reduced pulmonary function. Isoproterenol-stimulated cyclic AMP formation was significantly blunted in cystic fibrosis patients carrying either the Gly16 allele or Thr164Ile genotype compared to cystic fibrosis patients homozygous for the respective Arg16 alleles. These data provide the first evidence suggesting that polymorphisms of the beta2AR gene contribute to clinical severity and disease progression in cystic fibrosis.

  12. Pulmonar collision tumor: metastatic adenoid cystic carcinoma and lung adenocarcinoma.

    PubMed

    Blanco, M; García-Fontán, E; Ríos, J; Rivo, J E; Fernández-Martín, R; Cañizares, M A

    2012-01-01

    We report an extraordinary case of collision tumor consisting of a lung adenocarcinoma and a metastatic adenoid cystic carcinoma in a 56 year-old man. He was diagnosed with a pulmonary nodule 11 years after treatment of an adenoid cystic carcinoma of the right maxillary sinus. A non-small cell carcinoma was observed when a transbronchial biopsy was performed. The other component of the nodule was only diagnosed with pathological examination of the resection specimen. PMID:21802893

  13. Laboratory confirmation of the diagnosis of cystic fibrosis.

    PubMed

    Tocci, P M; McKey, R M

    1976-11-01

    The recent commercial introduction of a method for detecting albumin in meconium makes screening for cystic fibrosis feasible for many hospitals. If the tests is adopted, confirmatory tests should be available. Quantitative analyses of sweat for sodium by flame photometry and for chloride by silver titration and ion-sleective electrodes are now used as confirmatory tests. We compare results of these confirmatory methods applied to presons with cystic fibrosis, respiratory disorders, or digestive disorders, and to control subjects. PMID:975543

  14. Pulmonar collision tumor: metastatic adenoid cystic carcinoma and lung adenocarcinoma.

    PubMed

    Blanco, M; García-Fontán, E; Ríos, J; Rivo, J E; Fernández-Martín, R; Cañizares, M A

    2012-01-01

    We report an extraordinary case of collision tumor consisting of a lung adenocarcinoma and a metastatic adenoid cystic carcinoma in a 56 year-old man. He was diagnosed with a pulmonary nodule 11 years after treatment of an adenoid cystic carcinoma of the right maxillary sinus. A non-small cell carcinoma was observed when a transbronchial biopsy was performed. The other component of the nodule was only diagnosed with pathological examination of the resection specimen.

  15. Cystic meningioma simulating arachnoid cyst: report of an unusual case.

    PubMed

    Docampo, Jorge; Jorge, Docampo; Gonzalez, Nadia; Nadia, Gonzalez; Vazquez, Claudio; Claudio, Vazquez; Morales, Carlos; Carlos, Morales; Gonzalez-Toledo, Eduardo; Eduardo, Gonzalez-Toledo

    2014-01-01

    The purpose of this paper is to show an unusual case of meningioma simulating arachnoid cyst on CT scan and MRI, diagnosed in a 63-year-old woman evaluated for headache and vision disorders. The meningioma shown is predominantly cystic with a small mural nodule enhancing after gadolinium and exhibiting diffusion restriction. Cystic portion of the tumor is hypodense on CT, and evidences fluid signal intensity on T1- and T2-weighted MR imaging.

  16. Chronic Low Back Pain due to Retroperitoneal Cystic Lymphangioma.

    PubMed

    Fattahi, Asieh Sadat; Maddah, Godratollah; Motamedolshariati, Mohammad; Ghiasi-Moghadam, Taghi

    2014-03-01

    Abdominal cystic lymphangioma is a rare benign neoplasm. Less than 1% of lymphangiomas is in the retroperitoneum. Lymphangioma is mostly asymptomatic. Chronic symptoms were reported in retroperitoneal type more than others. Acute symptoms due to complications like infection, cyst rupture or hemorrhage may occur. We report an 18-years-old girl with low back pain from 6 months ago with huge pelvic mass and diagnosis of retroperitoneal cystic lymphangioma.

  17. Gamma Knife Radiosurgery for the Treatment of Cystic Cerebral Metastases

    SciTech Connect

    Ebinu, Julius O.; Lwu, Shelly; Monsalves, Eric; Arayee, Mandana; Chung, Caroline; Laperriere, Normand J.; Kulkarni, Abhaya V.; Goetz, Pablo; Zadeh, Gelareh

    2013-03-01

    Purpose: To assess the role of Gamma Knife radiosurgery (GKRS) in the treatment of nonsurgical cystic brain metastasis, and to determine predictors of response to GKRS. Methods: We reviewed a prospectively maintained database of brain metastases patients treated at our institution between 2006 and 2010. All lesions with a cystic component were identified, and volumetric analysis was done to measure percentage of cystic volume on day of treatment and consecutive follow-up MRI scans. Clinical, radiologic, and dosimetry parameters were reviewed to establish the overall response of cystic metastases to GKRS as well as identify potential predictive factors of response. Results: A total of 111 lesions in 73 patients were analyzed; 57% of lesions received prior whole-brain radiation therapy (WBRT). Lung carcinoma was the primary cancer in 51% of patients, 10% breast, 10% colorectal, 4% melanoma, and 26% other. Fifty-seven percent of the patients were recursive partitioning analysis class 1, the remainder class 2. Mean target volume was 3.3 mL (range, 0.1-23 mL). Median prescription dose was 21 Gy (range, 15-24 Gy). Local control rates were 91%, 63%, and 37% at 6, 12, and 18 months, respectively. Local control was improved in lung primary and worse in patients with prior WBRT (univariate). Only lung primary predicted local control in multivariate analysis, whereas age and tumor volume did not. Lesions with a large cystic component did not show a poorer response compared with those with a small cystic component. Conclusions: This study supports the use of GKRS in the management of nonsurgical cystic metastases, despite a traditionally perceived poorer response. Our local control rates are comparable to a matched cohort of noncystic brain metastases, and therefore the presence of a large cystic component should not deter the use of GKRS. Predictors of response included tumor subtype. Prior WBRT decreased effectiveness of SRS for local control rates.

  18. Ovarian Mature Cystic Teratoma: Challenges of Surgical Management

    PubMed Central

    Sinha, Abha; Ewies, Ayman A. A.

    2016-01-01

    Although ovarian mature cystic teratomas are the commonest adnexal masses occurring in premenopausal women, there are many challenges faced by gynecologists on deciding upon the best surgical management. There is uncertainty, lack of consensus, and variation in surgical practices. This paper critically analyzes various surgical approaches and techniques used to treat these cysts in an attempt to outline a unified guidance. MEDLINE and EMBASE databases were searched in January 2015 with no date limit using the key words “ovarian teratoma” and “ovarian dermoid.” The search was limited to articles in English language, humans, and female. The two authors conducted the search independently. The laparoscopic approach is generally considered to be the gold standard for the management. Oophorectomy should be the standard operation except in younger women with a single small cyst. The risk of chemical peritonitis after contents spillage is extremely rare and can certainly be overcome with thorough peritoneal lavage using warmed fluid. There is a place for surveillance in some selected cases. PMID:27110246

  19. Early airway infection, inflammation, and lung function in cystic fibrosis

    PubMed Central

    Nixon, G; Armstrong, D; Carzino, R; Carlin, J; Olinsky, A; Robertson, C; Grimwood, K

    2002-01-01

    Aims: To determine the relation between lower airway infection and inflammation, respiratory symptoms, and lung function in infants and young children with cystic fibrosis (CF). Methods: A prospective study of children with CF aged younger than 3 years, diagnosed by a newborn screening programme. All were clinically stable and had testing as outpatients. Subjects underwent bronchial lavage (BL) and lung function testing by the raised volume rapid thoracoabdominal compression technique under general anaesthesia. BL fluid was cultured and analysed for neutrophil count, interleukin 8, and neutrophil elastase. Lung function was assessed by forced expiratory volume in 0.5, 0.75, and 1 second. Results: Thirty six children with CF were tested on 54 occasions. Lower airway infection shown by BL was associated with a 10% reduction in FEV0.5 compared with subjects without infection. No relation was identified between airway inflammation and lung function. Daily moist cough within the week before testing was reported on 20/54 occasions, but in only seven (35%) was infection detected. Independent of either infection status or airway inflammation, those with daily cough had lower lung function than those without respiratory symptoms at the time of BL (mean adjusted FEV0.5 195 ml and 236 ml respectively). Conclusions: In young children with CF, both respiratory symptoms and airway infection have independent, additive effects on lung function, unrelated to airway inflammation. Further studies are needed to understand the mechanisms of airway obstruction in these young patients. PMID:12244003

  20. Ovarian Mature Cystic Teratoma: Challenges of Surgical Management.

    PubMed

    Sinha, Abha; Ewies, Ayman A A

    2016-01-01

    Although ovarian mature cystic teratomas are the commonest adnexal masses occurring in premenopausal women, there are many challenges faced by gynecologists on deciding upon the best surgical management. There is uncertainty, lack of consensus, and variation in surgical practices. This paper critically analyzes various surgical approaches and techniques used to treat these cysts in an attempt to outline a unified guidance. MEDLINE and EMBASE databases were searched in January 2015 with no date limit using the key words "ovarian teratoma" and "ovarian dermoid." The search was limited to articles in English language, humans, and female. The two authors conducted the search independently. The laparoscopic approach is generally considered to be the gold standard for the management. Oophorectomy should be the standard operation except in younger women with a single small cyst. The risk of chemical peritonitis after contents spillage is extremely rare and can certainly be overcome with thorough peritoneal lavage using warmed fluid. There is a place for surveillance in some selected cases. PMID:27110246

  1. Targeted therapies to improve CFTR function in cystic fibrosis.

    PubMed

    Brodlie, Malcolm; Haq, Iram J; Roberts, Katie; Elborn, J Stuart

    2015-01-01

    Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that codes for an apical membrane chloride channel principally expressed by epithelial cells. Conventional approaches to cystic fibrosis care involve a heavy daily burden of supportive treatments to combat lung infection, help clear airway secretions and maintain nutritional status. In 2012, a new era of precision medicine in cystic fibrosis therapeutics began with the licensing of a small molecule, ivacaftor, which successfully targets the underlying defect and improves CFTR function in a subgroup of patients in a genotype-specific manner. Here, we review the three main targeted approaches that have been adopted to improve CFTR function: potentiators, which recover the function of CFTR at the apical surface of epithelial cells that is disrupted in class III and IV genetic mutations; correctors, which improve intracellular processing of CFTR, increasing surface expression, in class II mutations; and production correctors or read-through agents, which promote transcription of CFTR in class I mutations. The further development of such approaches offers great promise for future therapeutic strategies in cystic fibrosis.

  2. Management of mucinous cystic neoplasms of the pancreas

    PubMed Central

    Testini, Mario; Gurrado, Angela; Lissidini, Germana; Venezia, Pietro; Greco, Luigi; Piccinni, Giuseppe

    2010-01-01

    The purpose of this study was to investigate the actual management of mucinous cystic neoplasm (MCN) of the pancreas. A systematic review was performed in December 2009 by consulting PubMed MEDLINE for publications and matching the key words “pancreatic mucinous cystic neoplasm”, “pancreatic mucinous cystic tumour”, “pancreatic mucinous cystic mass”, “pancreatic cyst”, and “pancreatic cystic neoplasm” to identify English language articles describing the diagnosis and treatment of the mucinous cystic neoplasm of the pancreas. In total, 16 322 references ranging from January 1969 to December 2009 were analysed and 77 articles were identified. No articles published before 1996 were selected because MCNs were not previously considered to be a completely autonomous disease. Definition, epidemiology, anatomopathological findings, clinical presentation, preoperative evaluation, treatment and prognosis were reviewed. MCNs are pancreatic mucin-producing cysts with a distinctive ovarian-type stroma localized in the body-tail of the gland and occurring in middle-aged females. The majority of MCNs are slow growing and asymptomatic. The prevalence of invasive carcinoma varies between 6% and 55%. Preoperative diagnosis depends on a combination of clinical features, tumor markers, computed tomography (CT), magnetic resonance imaging, endoscopic ultrasound with cyst fluid analysis, and positron emission tomography-CT. Surgery is indicated for all MCNs. PMID:21128317

  3. Increased oral bioavailability of ciprofloxacin in cystic fibrosis patients.

    PubMed Central

    Christensson, B A; Nilsson-Ehle, I; Ljungberg, B; Lindblad, A; Malmborg, A S; Hjelte, L; Strandvik, B

    1992-01-01

    The altered pharmacokinetic properties of, e.g., aminoglycosides in cystic fibrosis patients have to be considered when pulmonary exacerbations are treated. Since reported data on ciprofloxacin, a fluorinated quinolone, are conflicting, we compared intravenous and oral administration in cystic fibrosis patients when treating them for mild symptoms of pulmonary infection. All of the patients were colonized with Pseudomonas species. Ciprofloxacin was administered orally (15 mg/kg of body weight) or intravenously (6 mg/kg) twice a day for at least 10 days during separate treatment periods. Five healthy volunteers received single intravenous and oral doses. Pharmacokinetic evaluations were performed at first dose and at steady state. The results showed that cystic fibrosis patients have increased oral bioavailability of ciprofloxacin (80% in cystic fibrosis patients versus 57% in volunteers) and increased total clearance (688 ml/min in CF patients versus 528 ml/min in volunteers). Our data indicate that the pharmacokinetic properties of ciprofloxacin are altered in cystic fibrosis patients with mild symptoms of pulmonary exacerbations and that the changes most probably are due to cystic fibrosis per se or to the impact of chronic infection. PMID:1489195

  4. Cystic Odontoma in a Patient with Hodgkin's Lymphoma.

    PubMed

    Costa, Victor; Caris, Adriana Rocha; León, Jorge Esquiche; Ramos, Carolina Judica; Jardini, Vaneska; Kaminagakura, Estela

    2015-01-01

    Cystic odontoma is a rare entity, which is characterized by the association of a cyst with complex/compound odontoma. The aim of this study was to report the case of a 5-year-old male patient diagnosed previously with Hodgkin's lymphoma and treated successfully with chemotherapy and radiotherapy, who developed a mandibular odontogenic lesion. Physical examination revealed a swelling on the right side of the mandible. Radiographically, a well-defined radiolucent area surrounded by radiopaque material was observed. An incisional biopsy was performed and microscopic analysis showed a cystic lesion consisting of an atrophic epithelium comprising 2-3 cell layers and the absence of inflammation in the cystic capsule. The cyst was decompressed and the lesion was removed after 3 months of follow-up. Microscopic analysis of the surgical specimen showed a cystic hyperplastic epithelium surrounded by an intense chronic inflammatory cell infiltrate, which was in close contact with mineralized tissue resembling dentin and cementum. The final diagnosis was cystic odontoma. Since chemotherapy can affect the growth and development of infant teeth, a relationship between chemotherapy-associated adverse events and cystic odontoma is suggested in the present case.

  5. Cystic Odontoma in a Patient with Hodgkin's Lymphoma

    PubMed Central

    Costa, Victor; Caris, Adriana Rocha; León, Jorge Esquiche; Ramos, Carolina Judica; Jardini, Vaneska; Kaminagakura, Estela

    2015-01-01

    Cystic odontoma is a rare entity, which is characterized by the association of a cyst with complex/compound odontoma. The aim of this study was to report the case of a 5-year-old male patient diagnosed previously with Hodgkin's lymphoma and treated successfully with chemotherapy and radiotherapy, who developed a mandibular odontogenic lesion. Physical examination revealed a swelling on the right side of the mandible. Radiographically, a well-defined radiolucent area surrounded by radiopaque material was observed. An incisional biopsy was performed and microscopic analysis showed a cystic lesion consisting of an atrophic epithelium comprising 2-3 cell layers and the absence of inflammation in the cystic capsule. The cyst was decompressed and the lesion was removed after 3 months of follow-up. Microscopic analysis of the surgical specimen showed a cystic hyperplastic epithelium surrounded by an intense chronic inflammatory cell infiltrate, which was in close contact with mineralized tissue resembling dentin and cementum. The final diagnosis was cystic odontoma. Since chemotherapy can affect the growth and development of infant teeth, a relationship between chemotherapy-associated adverse events and cystic odontoma is suggested in the present case. PMID:26618008

  6. High-resolution X-ray spectra of solar flares. III - General spectral properties of X1-X5 type flares

    NASA Technical Reports Server (NTRS)

    Doschek, G. A.; Feldman, U.; Kreplin, R. W.; Cohen, L.

    1980-01-01

    High-resolution X-ray spectra of six class X1-X5 solar flares are discussed. The spectra were recorded by spaceborne Bragg crystal spectrometers in the ranges 1.82-1.97, 2.98-3.07 and 3.14-3.24 A. Electron temperatures derived from dielectronic satellite line to resonance line ratios for Fe XXV and Ca XIX are found to remain fairly constant around 22,000,000 and 16,000,000 K respectively during the rise phase of the flares, then decrease by approximately 6,000,000 K during the decay phase. Nonthermal motions derived from line widths for the April 27, 1979 event are found to be greatest during the rise phase (approximately 130 km/sec) and decrease to about 60 km/sec during decay. Volume emission measures for Fe XXV, Ca XIX and Ca XX are derived from photon fluxes as a function of temperature, and examination of the intensity behavior of the Fe K alpha emission as a function of time indicates that it is a result of fluorescence. Differences between the present and previous observations of temperature variation are discussed, and it is concluded that the flare plasmas are close to ionization equilibrium for the flares investigated.

  7. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis: executive summary

    PubMed Central

    Olivier, Kenneth N; Saiman, Lisa; Daley, Charles L; Herrmann, Jean-Louis; Nick, Jerry A; Noone, Peadar G; Bilton, Diana; Corris, Paul; Gibson, Ronald L; Hempstead, Sarah E; Koetz, Karsten; Sabadosa, Kathryn A; Sermet-Gaudelus, Isabelle; Smyth, Alan R; van Ingen, Jakko; Wallace, Richard J; Winthrop, Kevin L; Marshall, Bruce C; Haworth, Charles S

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease, such as cystic fibrosis (CF). Pulmonary disease (PD) caused by NTM has emerged as a major threat to the health of individuals with CF, but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) convened a panel of 19 experts to develop consensus recommendations for the screening, investigation, diagnosis and management of NTM-PD in individuals with CF. PICO (population, intervention, comparison, outcome) methodology and systematic literature reviews were employed to inform draft recommendations, which were then modified to achieve consensus and subsequently circulated for public consultation within the USA and European CF communities. We have thus generated a series of pragmatic, evidence-based recommendations as an initial step in optimising management for this challenging condition. PMID:26678435

  8. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis: executive summary.

    PubMed

    Floto, R Andres; Olivier, Kenneth N; Saiman, Lisa; Daley, Charles L; Herrmann, Jean-Louis; Nick, Jerry A; Noone, Peadar G; Bilton, Diana; Corris, Paul; Gibson, Ronald L; Hempstead, Sarah E; Koetz, Karsten; Sabadosa, Kathryn A; Sermet-Gaudelus, Isabelle; Smyth, Alan R; van Ingen, Jakko; Wallace, Richard J; Winthrop, Kevin L; Marshall, Bruce C; Haworth, Charles S

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease, such as cystic fibrosis (CF). Pulmonary disease (PD) caused by NTM has emerged as a major threat to the health of individuals with CF, but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) convened a panel of 19 experts to develop consensus recommendations for the screening, investigation, diagnosis and management of NTM-PD in individuals with CF. PICO (population, intervention, comparison, outcome) methodology and systematic literature reviews were employed to inform draft recommendations, which were then modified to achieve consensus and subsequently circulated for public consultation within the USA and European CF communities. We have thus generated a series of pragmatic, evidence-based recommendations as an initial step in optimising management for this challenging condition.

  9. Airway Clearance Devices for Cystic Fibrosis

    PubMed Central

    2009-01-01

    Executive Summary Objective The purpose of this evidence-based analysis is to examine the safety and efficacy of airway clearance devices (ACDs) for cystic fibrosis and attempt to differentiate between devices, where possible, on grounds of clinical efficacy, quality of life, safety and/or patient preference. Background Cystic fibrosis (CF) is a common, inherited, life-limiting disease that affects multiple systems of the human body. Respiratory dysfunction is the primary complication and leading cause of death due to CF. CF causes abnormal mucus secretion in the airways, leading to airway obstruction and mucus plugging, which in turn can lead to bacterial infection and further mucous production. Over time, this almost cyclical process contributes to severe airway damage and loss of respiratory function. Removal of airway secretions, termed airway clearance, is thus an integral component of the management of CF. A variety of methods are available for airway clearance, some requiring mechanical devices, others physical manipulation of the body (e.g. physiotherapy). Conventional chest physiotherapy (CCPT), through the assistance of a caregiver, is the current standard of care for achieving airway clearance, particularly in young patients up to the ages of six or seven. CF patients are, however, living much longer now than in decades past. The median age of survival in Canada has risen to 37.0 years for the period of 1998-2002 (5-year window), up from 22.8 years for the 5-year window ending in 1977. The prevalence has also risen accordingly, last recorded as 3,453 in Canada in 2002, up from 1,630 in 1977. With individuals living longer, there is a greater need for independent methods of airway clearance. Airway Clearance Devices There are at least three classes of airway clearance devices: positive expiratory pressure devices (PEP), airway oscillating devices (AOD; either handheld or stationary) and high frequency chest compression (HFCC)/mechanical percussion (MP

  10. I-131 accumulation in a benign cystic mesothelioma in a patient with follicular thyroid cancer.

    PubMed

    de Keizer, Bart; Arsos, Georgios; Smit, Jan W; Lam, Marnix G; Rinkes, Inne H Borel; Goldschmeding, Roel; van Isselt, Johannes W

    2008-03-01

    Focal I-131 accumulation is generally a reliable indicator of functioning normal thyroid tissue or a differentiated thyroid cancer metastasis. However, physiologic accumulation of activity may also be observed in organs such as the intestinal tract, liver, and salivary glands. Extrathyroidal I-131 accumulation has been reported in various sites, such as ectopic gastric mucosa, gastrointestinal and urinary tract abnormalities, cysts (mammary, liver, kidney, and ovaries), and inflammation and infection foci. We report a case of focal I-131 accumulation in a benign cystic mesothelioma in a patient with follicular thyroid cancer.

  11. Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model

    NASA Astrophysics Data System (ADS)

    Gabriel, Sherif E.; Brigman, Kristen N.; Koller, Beverly H.; Boucher, Richard C.; Stutts, M. Jackson

    1994-10-01

    The effect of the number of cystic fibrosis (CF) alleles on cholera toxin (CT)-induced intestinal secretion was examined in the CF mouse model. CF mice that expressed no CF transmembrane conductance regulator (CFTR) protein did not secrete fluid in response to CT. Heterozygotes expressed 50 percent of the normal amount of CFTR protein in the intestinal epithelium and secreted 50 percent of the normal fluid and chloride ion in response to CT. This correlation between CFTR protein and CT-induced chloride ion and fluid secretion suggests that CF heterozygotes might possess a selective advantage of resistance to cholera.

  12. Liver and lung transplantation in cystic fibrosis: an adult cystic fibrosis centre's experience.

    PubMed

    Sivam, S; Al-Hindawi, Y; Di Michiel, J; Moriarty, C; Spratt, P; Jansz, P; Malouf, M; Plit, M; Pleass, H; Havryk, A; Bowen, D; Haber, P; Glanville, A R; Bye, P T P

    2016-07-01

    Liver disease develops in one-third of patients with cystic fibrosis (CF). It is rare for liver disease to have its onset after 20 years of age. Lung disease, however, is usually more severe in adulthood. A retrospective analysis was performed on nine patients. Three patients required lung transplantation approximately a decade after liver transplant, and another underwent combined liver and lung transplants. Four additional patients with liver transplants are awaiting assessment for lung transplants. One patient is awaiting combined liver and lung transplants. With increased survival in CF, several patients may require more than single organ transplantation. PMID:27405894

  13. Biokinetics of nanoparticles and susceptibility to particulate exposure in a murine model of cystic fibrosis

    PubMed Central

    2014-01-01

    Background Persons with cystic fibrosis (CF) are at-risk for health effects from ambient air pollution but little is known about the interaction of nanoparticles (NP) with CF lungs. Here we study the distribution of inhaled NP in a murine CF model and aim to reveal mechanisms contributing to adverse effects of inhaled particles in susceptible populations. Methods Chloride channel defective CftrTgH (neoim) Hgu mice were used to analyze lung function, lung distribution and whole body biokinetics of inhaled NP, and inflammatory responses after intratracheal administration of NP. Distribution of 20-nm titanium dioxide NP in lungs was assessed on ultrathin sections immediately and 24 h after a one-hour NP inhalation. NP biokinetics was deduced from total and regional lung deposition and from whole body translocation of inhaled 30-nm iridium NP within 24 h after aerosol inhalation. Inflammatory responses were assessed within 7 days after carbon NP instillation. Results Cftr mutant females had moderately reduced lung compliance and slightly increased airway resistance compared to wild type mice. We found no genotype dependent differences in total, regional and head deposition or in secondary-organ translocation of inhaled iridium NP. Titanium dioxide inhalation resulted in higher NP uptake by alveolar epithelial cells in Cftr mutants. Instillation of carbon NP induced a comparable acute and transient inflammatory response in both genotypes. The twofold increase of bronchoalveolar lavage (BAL) neutrophils in Cftr mutant compared to wild type mice at day 3 but not at days 1 and 7, indicated an impaired capacity in inflammation resolution in Cftr mutants. Concomitant to the delayed decline of neutrophils, BAL granulocyte-colony stimulating factor was augmented in Cftr mutant mice. Anti-inflammatory 15-hydroxyeicosatetraenoic acid was generally significantly lower in BAL of Cftr mutant than in wild type mice. Conclusions Despite lacking alterations in lung deposition and

  14. Emotional health in children and adolescents with cystic fibrosis.

    PubMed

    Pop-Jordanova, Nada; Demerdzieva, Aneta

    2016-01-01

    Although modern therapeutic procedures have considerably improved the survival and the quality of life of children with cystic fibrosis, the relevant psychological aspects have been still insufficiently considered similarly to the other chronic diseases. The aim of this research was to evaluate the emotional health: psychological characteristics and adjustment of CF children and their family coping. The study comprises 25 CF children, mean age 13.13 ± 2.29 years (23 boys and only 2 girls), selected from total 60 actually treated children for CF. Children were examined in the period of improved health conditions (without superinfection, wheezing or gastrointestinal problems). Obtained results are compared with a control group of 25 healthy children of the same age, selected by random from primary schools. The psychometric instruments used were: Kohs Design Test, Child Behavior Checklist, Eysenck Personality Questionnaire, General Anxiety Scale, Emotional Profile Index, MMPI-201 and Human Values Test, together with two projective tests of drawing (Machover and Corman). The unexpected good psychological results obtained from psychometric instruments could be explained by the fact that CF children accept the real situation and express vivacity. However, their deep feelings of fear impose on them high level of self-control and resistance. The results obtained for CBCL presented CF children as immature, with accentuated aggressiveness in interpersonal relations. The most important problem is related to the delay of puberty changes, leading to low self-esteem. Generally, family members cope relatively well with the disease in children, in spite to discrepancies in mother/child reports for child psychopathology. Divorces also occurred in some families. Psychological support for both, children and family members are necessary. The need for a holistic approach in the assessment and treatment, including biofeedback techniques was pointed out. PMID:27442418

  15. Genetic analysis of hispanic individuals with cystic fibrosis

    SciTech Connect

    Grebe, T.A.; Doane, W.W.; Norman, R.A.; Rhodes, S.N. ); Seltzer, W.K. ); DeMarchi, J.; Silva, D.K.; Gozal, D.; Bowman, C.M.; Accurso, F.J.; Jain, K.D. )

    1994-03-01

    The authors have performed molecular genetic analysis of Hispanic individuals with cystic fibrosis (CF) in the southwestern United States. Of 129 CF chromosomes analyzed, oly 46% (59/129) carry [Delta]F508. The G542X mutation was found on 5% (7/129) of CF chromosomes. The 3849+10kbC[yields]T mutation, detected primarily in Ashkenazi Jews, was present on 2% (3/129). R1162X and R334W, mutations identified in Spain and Italy, each occurred on 1.6% (2/129) of CF chromosomes. W1282X and R553X were each detected once. G551D and N1303K were not found. Overall, screening for 22 or more mutations resulted in detection of only 58% of CF transmembrane conductance regulator gene mutations among Hispanic individuals. Analysis of KM19/XV2c haplotypes revealed an unusual distribution. Although the majority of [Delta]508 mutations are on chromosomes of B haplotypes, the other CF mutations are on A and C haplotypes at higher-than-expected frequencies. These genetic analysis demonstrate significant differences between Hispanic individuals with CF and those of the general North American population. Assessment of carrier/affected risk in Hispanic CF individuals cannot, therefore, be based on the mutation frequencies found through studies of the general population but must be adjusted to better reflect the genetic makeup of this ethnic group. Further studies are necessary to identify the causative mutation(s) in this population and to better delineate genotype/phenotype correlations. These will enable counselors to provide more accurate genetic counseling. 22 refs., 2 tabs.

  16. Pulmonary Exacerbations in Children with Cystic Fibrosis.

    PubMed

    Waters, Valerie; Ratjen, Felix

    2015-11-01

    Pulmonary exacerbations treated with intravenous antibiotics have significant, well-characterized negative consequences on clinical outcomes in cystic fibrosis (CF). The impact of milder exacerbations in children with CF, commonly treated with oral antibiotics, are less well defined. Pulmonary exacerbations have multiple triggers, but viral infections are particularly common in children. Children with CF and healthy control subjects have similar frequencies of viral respiratory infections, but there is evidence of greater virus-related morbidity in patients with CF, likely due to a combination of increased viral load, more pronounced inflammatory response, and more pronounced impairment in mucociliary clearance. In recent clinical trials in children, definitions have been used that are more symptom based rather than intervention based. These studies have demonstrated differences in the spectrum of symptoms between children and older patients but have also shown that, despite low threshold definitions, a considerable number of patients receive treatment for events not fulfilling the pulmonary exacerbation criteria. Additional research is needed to determine the impact of these milder exacerbations on lung function recovery and time to subsequent exacerbation as well as long-term outcomes such as mortality. PMID:26595740

  17. Lessons learned from the cystic fibrosis pig.

    PubMed

    Meyerholz, David K

    2016-07-01

    Deficient function in the anion channel cystic fibrosis (CF) transmembrane conductance regulator is the fundamental cause for CF. This is a monogenic condition that causes lesions in several organs including the respiratory tract, pancreas, liver, intestines, and reproductive tract. Lung disease is most notable, given it is the leading cause of morbidity and mortality in people with CF. Shortly after the identification of CF transmembrane conductance regulator, CF mouse models were developed that did not show spontaneous lung disease as seen in humans, and this spurred development of additional CF animal models. Pig models were considered a leading choice for several reasons including their similarity to humans in respiratory anatomy, physiology, and in size for translational imaging. The first CF pig models were reported in 2008 and have been extremely valuable to help clarify persistent questions in the field and advance understanding of disease pathogenesis. Because CF pigs are susceptible to lung disease like humans, they have direct utility in translational research. In addition, CF pig models are useful to compare and contrast with current CF mouse models, human clinical studies, and even newer CF animal models being characterized. This "triangulation" strategy could help identify genetic differences that underlie phenotypic variations, so as to focus and accelerate translational research. PMID:27142487

  18. The cystic fibrosis lower airways microbial metagenome

    PubMed Central

    Moran Losada, Patricia; Chouvarine, Philippe; Dorda, Marie; Hedtfeld, Silke; Mielke, Samira; Schulz, Angela; Wiehlmann, Lutz

    2016-01-01

    Chronic airway infections determine most morbidity in people with cystic fibrosis (CF). Herein, we present unbiased quantitative data about the frequency and abundance of DNA viruses, archaea, bacteria, moulds and fungi in CF lower airways. Induced sputa were collected on several occasions from children, adolescents and adults with CF. Deep sputum metagenome sequencing identified, on average, approximately 10 DNA viruses or fungi and several hundred bacterial taxa. The metagenome of a CF patient was typically found to be made up of an individual signature of multiple, lowly abundant species superimposed by few disease-associated pathogens, such as Pseudomonas aeruginosa and Staphylococcus aureus, as major components. The host-associated signatures ranged from inconspicuous polymicrobial communities in healthy subjects to low-complexity microbiomes dominated by the typical CF pathogens in patients with advanced lung disease. The DNA virus community in CF lungs mainly consisted of phages and occasionally of human pathogens, such as adeno- and herpesviruses. The S. aureus and P. aeruginosa populations were composed of one major and numerous minor clone types. The rare clones constitute a low copy genetic resource that could rapidly expand as a response to habitat alterations, such as antimicrobial chemotherapy or invasion of novel microbes. PMID:27730195

  19. Improving outcomes in patients with cystic fibrosis.

    PubMed

    Warwick, Geoffrey; Elston, Caroline

    2011-01-01

    Cystic fibrosis (CF) is the most common fatal inherited disease in Caucasian people. Inheritance follows an autosomal recessive pattern. Recent data indicate that there are more than 9,000 patients with CF in the UK. At a cellular level there is an abnormal CF transmembrane conductance regulator (CFTR), a protein essential for chloride and sodium homoeostasis, caused by a mutation in the CF gene. The consequence of this abnormal protein is thick, viscous secretions in the lungs and GI tract, which lead to recurrent lung infections and pancreatic insufficiency with intestinal malabsorption. Most patients present in early childhood with classic CF. They show one or more of the typical CF phenotypic characteristics (chronic pulmonary disease, GI symptoms and malabsorption, nutritional abnormalities and sinus disease). A minority of patients have atypical CF. They tend to present at an older age, often in adulthood, are mainly pancreatic sufficient, have milder disease and a better prognosis. When CF is suspected the diagnosis can be confirmed by measuring sweat chloride concentration and by looking for CFTR mutations. Immunoreactive trypsinogen is measured in blood taken from a heel prick in all neonates, and is a marker of pancreatic injury consistent with (but not specific for) CF. PMID:21932505

  20. Dermatoglyphic Patterns in Cystic Fibrosis Children

    PubMed Central

    Ezzati, Atefeh; Batoei, Fereshteh; Jafari, Seyed-Ali; Kiyani, Mohammad-Ali; Mahdavi-Shahri, Naser; Ahanchian, Hamid; Tehranian, Shahrzad; Kianifar, Hamid-Reza

    2014-01-01

    Objective: It is believed that fingerprints and palm patterns may represent genetically determined congenital abnormalities in Cystic Fibrosis (CF). The main idea of this paper was to determine differences of fingerprints and palm patterns in CF and normal children. Methods: Forty-six CF children (27 males, 19 females) and 341 (113 males, 228 females) healthy individuals were recruited for this study. Fingerprint patterns, Total ridge count (TRC) of each finger, a-b ridge count, and atd angles of all participants were recorded. Asymmetry of the right and left hand for each value was determined and dissimilarity in fingerprint patterns between homologous fingers was compared using Chi-square analysis, Mann-Whitney U test and Fisher's exact test. Findings: There were significant differences in the mean TRC of the right digit IV (P=0.009), left digit III (P=0.02), left digit IV (P=0.03), and left digit V (P=0.03). Furthermore, we found significant differences in right atd angel (P=0.001), left atd angel (P=0.002), right a-b ridge (P=0.007) and left a-b ridge (P=0.001). In contrast, we found no significant differences in atd angle asymmetry, a-b ridge count asymmetry and pattern dissimilarity score between both groups (P>0.05). Conclusion: Dermatoglyphic characteristics could be used as a supplementary diagnostic method in CF children. PMID:25793070

  1. A millennial view of cystic fibrosis.

    PubMed

    Dodge, John A

    2015-01-01

    Although only identified as a distinct disease in the 1930s, it was soon apparent that Cystic Fibrosis (CF) had been present, but unrecognised, in European populations for many years - perhaps even centuries [1] . Within a decade of the early descriptions, the autosomal recessive nature of this genetic disease had been clarified, and its clinical features had been expanded. Secondary nutritional deficiencies complicated the underlying condition: the first clear description of CF as "a new disease", which included a speculation about its genetic basis (because there were 2 pairs of sibs in the case series) was published as Vitamin A deficiency in children [2]. The diagnosis was most often made at autopsy. When it was suspected in life, the diagnostic tests used included duodenal intubation to obtain fluid which would show impaired tryptic digestion of the coating of X-Ray film in CF children, and measurement of vitamin A in the blood. Some nutritional improvement could be expected with simple, rather inefficient pancreatic enzyme preparations, but it was not until mid-century that antibiotics began to treat pulmonary infections effectively. As a young doctor in the 1950s I soon became aware that the median age at death for affected children was about one year, and most died before reaching school age. . PMID:26003065

  2. Lentiviral Vectors and Cystic Fibrosis Gene Therapy

    PubMed Central

    Castellani, Stefano; Conese, Massimo

    2010-01-01

    Cystic fibrosis (CF) is a chronic autosomic recessive syndrome, caused by mutations in the CF Transmembrane Conductance Regulator (CFTR) gene, a chloride channel expressed on the apical side of the airway epithelial cells. The lack of CFTR activity brings a dysregulated exchange of ions and water through the airway epithelium, one of the main aspects of CF lung disease pathophysiology. Lentiviral (LV) vectors, of the Retroviridae family, show interesting properties for CF gene therapy, since they integrate into the host genome and allow long-lasting gene expression. Proof-of-principle that LV vectors can transduce the airway epithelium and correct the basic electrophysiological defect in CF mice has been given. Initial data also demonstrate that LV vectors can be repeatedly administered to the lung and do not give rise to a gross inflammatory process, although they can elicit a T cell-mediated response to the transgene. Future studies will clarify the efficacy and safety profile of LV vectors in new complex animal models with CF, such as ferrets and pigs. PMID:21994643

  3. Update on gene modifiers in cystic fibrosis

    PubMed Central

    Collaco, Joseph M.; Cutting, Garry R.

    2009-01-01

    Purpose of review Cystic fibrosis (CF) is a common, life-limiting monogenic disease, which typically manifests as progressive bronchiectasis, exocrine pancreatic dysfunction, and recurrent sinopulmonary infections. Although the gene responsible for CF (CFTR) was described in 1989, it has become increasingly evident that modifier genes and environmental factors play substantial roles in determining the severity of disease, particularly lung disease. Identifying these factors is crucial in devising therapies and other interventions to decrease the morbidity and mortality associated with this disorder. Recent findings Although many genes have been proposed as potential modifiers of CF, only a handful have withstood the test of replication. Several of the replicated findings reveal that genes affecting inflammation and infection response play a key role in modifying CF lung disease severity. Interactions between CFTR genotype, modifier genes, and environmental factors have been documented to influence lung function measures and infection status in CF patients. Summary Several genes have been demonstrated to affect disease severity in CF. Furthermore, it is likely that gene–gene and gene–environment interactions can explain a substantial portion of the variation of lung disease. Ongoing genome-wide studies are likely to identify novel genetic modifiers. Continued exploration of the role of genetic and nongenetic modifiers of CF is likely to yield new options for combating this debilitating disease. PMID:18812833

  4. Recombinant antigens for immunodiagnosis of cystic echinococcosis

    PubMed Central

    Li, Jun; Zhang, Wen-Bao

    2004-01-01

    Three cDNAs, termed EpC1, TPxEg and EgG5, were isolated by immunoscreening from an Echinococcus granulosus cDNA library. The recombinant phages exhibited strong reactivity with sera from humans with confirmed cystic echinococcosis (CE) and with sera from mice infected with E. granulosus oncospheres. The cDNAs were subcloned into a pET vector, expressed as fusion proteins tagged with GST and affinity purified against the GST tag. Of the three recombinant proteins, EpC1 achieved the highest performance for serodiagnosis of CE in Western blot analysis using a panel of clinically defined human sera to initially address the sensitivity and specificity of the molecules. The protein yielded an overall sensitivity of 92.2% and specificity of 95.6%, levels unprecedented taking into account the large panel of 896 human sera that were tested. The strategy used may also prove suitable for improved immunodiagnosis of other parasitic infections. PMID:15188015

  5. Diagnosis of Cystic Echinococcosis, Central Peruvian Highlands

    PubMed Central

    Gonzalez, Armando E.; Zhang, Wenbao; McManus, Donald P.; Lopera, Luis; Ninaquispe, Berenice; Garcia, Hector H.; Rodríguez, Silvia; Verastegui, Manuela; Calderon, Carmen; Pan, William K.Y.; Gilman, Robert H.

    2008-01-01

    We evaluated prevalence of cystic echinococcosis (CE) in a central Peruvian Highland district by using 4 diagnostic methods: ultrasonography for 949 persons, radiography for 829, and 2 serologic tests for 929 (2 immunoblot formats using bovine hydatid cyst fluid [IBCF] and recombinant EpC1 glutathione S-transferase [rEpC1-GST] antigens). For the IBCF and rEpC1-GST testing, prevalence of liver and pulmonary CE was 4.7% and 1.1% and seropositivity was 8.9% and 19.7%, respectively. Frequency of seropositive results for IBCF and rEpC1-GST testing was 35.7% and 16.7% (all hepatic cysts), 47.1% and 29.4% (hepatic calcifications excluded), and 22.2% and 33.3% (lung cysts), respectively. Weak immune response against lung cysts, calcified cysts, small cysts, and cysts in sites other than lung and liver might explain the poor performance of the serodiagnostic tests. We confirm that CE is highly endemic to Peru and emphasize the limited performance of available serologic assays in the field. PMID:18258119

  6. Choosing a nebulizer for cystic fibrosis applications.

    PubMed

    Geller, D E

    1997-11-01

    As the number of inhaled drugs available for cystic fibrosis grows, there is increasing awareness of delivery device issues. Current jet and ultrasonic nebulizers are inefficient at delivering drugs to the lower respiratory tract. There are large differences in output characteristics between nebulizers and high intersubject variability in lung deposition. The clinical effects of inhaled drugs depend on adequate dosing to the lower airway, so we must choose a nebulizer and patient characteristics that will affect lung deposition positively. Aerosols with particle sizes at the smaller end of the respirable range (2 to 3 microns) may enhance the clinical benefit of some drugs, regardless of patient age or disease severity. Breath-enhanced (Venturi) jet nebulizers are less wasteful than constant-output nebulizers and perform better than conventional nebulizers with many drugs. Patient breathing patterns and degree of airway obstruction are important in determining the site of airway deposition. With increased attention to aerosol delivery issues by clinicians, industry, and regulatory agencies, improved technologies will evolve to target therapies to the lung. PMID:9391760

  7. [Giant retroperitoneal cystic mass: appendiceal mucocele].

    PubMed

    Rodríguez Alonso, A; Suárez Pascual, G; Bonelli Martín, C; González Blanco, A; Lorenzo Franco, J; Cuerpo Pérez, M A; Nogueira Carballedo, C; Alvarez Fernández, J C; Nieto García, J

    2004-04-01

    Appendiceal mucocele is a term used to describe the dilatation of the vermiform appendix produced by an intraluminal accumulation of mucus. Four pathological processes have been described that may lead to an appendiceal mucocele: obturation of cecoappendiceal communication, mucosal hyperplasia, mucinous cystadenoma and mucinous cystoadenocarcinoma. The most frequent is mucinous cystadenoma, seen in 50% of appendiceal mucoceles. 6% of patients with appendiceal mucocele develop peritoneal pseudomixoma, possibly through dissemination of the epithelial cells into the abdominal cavity. Preoperative diagnosis of the lesion is particularly important in order to deal with it carefully during surgery. CT scan is the most precise radiological exploration, although there are no pathognomonic signs of mucocele. Typical CT finding of a mucocele is a well-defined cystic mass that compresses the cecum without any peripheral inflammatory reaction, and with low levels of attenuation that vary between water and soft tissue density. We present a case of an appendiceal mucocele caused by a mucinous cystadenoma clinically presented as a giant retroperitoneal mass. Diagnosis was postoperatively made, after pathological study of the surgical sample.

  8. [Inhaled antibiotic therapy in cystic fibrosis].

    PubMed

    Girón Moreno, Rosa M; Salcedo Posadas, Antonio; Mar Gómez-Punter, Rosa

    2011-06-01

    Cystic fibrosis is the most frequent fatal genetically-transmitted disease among Caucasians. Chronic bronchial infection, especially by Pseudomonas aeruginosa, is the main cause of morbidity and mortality in this disease. Aerosolized antibiotic therapy achieves high drug concentrations in the airway with low toxicity, allowing chronic use. Currently, two antibiotics have been approved for inhalation therapy, tobramycin inhalation solution and colistimethate sodium aerosol. There is less evidence from clinical trials for the latter. The main indication for these drugs is chronic bronchial colonization by P. aeruginosa, although there is increasing evidence of the importance of the primary infection by this bacterium, whether treated by oral or intravenous antibiotics or not. More controversial is the use of aerosolized antibiotic therapy in bacterial prophylaxis or respiratory exacerbations. For many years, intravenous formulations of distinct antibiotics for aerosolized use have been employed, which are in distinct phases of research for use in nebulizer therapy. In addition to being used to treat P. aeruginosa infection, aerosolized antibiotics have been used to treat other pathogens such as methicillin-resistant Staphylococus aureus, Mycobacterium abscessus and Aspergillus fumigatus. PMID:21703474

  9. Anxiety and depression in cystic fibrosis.

    PubMed

    Baiardini, I; Steinhilber, G; DI Marco, F; Braido, F; Solidoro, P

    2015-10-01

    Cystic fibrosis (CF) is the most common genetic disorders in the Caucasian population, with estimated between 70,000 and 100,000 patients worldwide. Even if improved diagnostics and clinical management have led to an increased life expectancy, CF still remains a disease that significantly impacts patients' life in terms of symptoms, daily functioning, psychological morbidity and health related quality of life. Available data suggest that symptoms of anxiety and depression, such as in other chronic conditions, are common features in CF patients and in their caregivers, with a significant impact on disease outcomes. In this review we analyze and discuss the findings of The International Depression and Anxiety Epidemiological Study (TIDES), recently published on Thorax. This study was aimed to determine the prevalence of symptoms of depression and anxiety in a large population of adolescents and adults with CF and in parents of children with CF, across eight European countries and the USA. The TIDES provides useful insights about the psychological/psychiatric comorbidities in CF and its conclusions are absolutely shareable. Nevertheless some doubts remain on the methods and the tools. Further investigation and understanding of anxiety and depression in CF (in terms of prevalence, association with clinical, psychological and socio-cultural factors) is necessary and evidence is crescent that a global and multidisciplinary approach is wanted. PMID:27427260

  10. Choosing a nebulizer for cystic fibrosis applications.

    PubMed

    Geller, D E

    1997-11-01

    As the number of inhaled drugs available for cystic fibrosis grows, there is increasing awareness of delivery device issues. Current jet and ultrasonic nebulizers are inefficient at delivering drugs to the lower respiratory tract. There are large differences in output characteristics between nebulizers and high intersubject variability in lung deposition. The clinical effects of inhaled drugs depend on adequate dosing to the lower airway, so we must choose a nebulizer and patient characteristics that will affect lung deposition positively. Aerosols with particle sizes at the smaller end of the respirable range (2 to 3 microns) may enhance the clinical benefit of some drugs, regardless of patient age or disease severity. Breath-enhanced (Venturi) jet nebulizers are less wasteful than constant-output nebulizers and perform better than conventional nebulizers with many drugs. Patient breathing patterns and degree of airway obstruction are important in determining the site of airway deposition. With increased attention to aerosol delivery issues by clinicians, industry, and regulatory agencies, improved technologies will evolve to target therapies to the lung.

  11. [Dispute Resolutions].

    ERIC Educational Resources Information Center

    Hale, Claudia L.; Cooks, Leda M.

    1994-01-01

    Focusing on the teaching of alternative dispute resolutions at universities, Claudia L. Hale and Leda M. Cooks argue that mediation should be taught primarily as a communication process that involves the joint efforts of mediator and disputants. Teachers of mediation should begin by distinguishing mediation from other forms of dispute resolution,…

  12. Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.

    PubMed

    Coutton, Charles; Abada, Farid; Karaouzene, Thomas; Sanlaville, Damien; Satre, Véronique; Lunardi, Joël; Jouk, Pierre-Simon; Arnoult, Christophe; Thierry-Mieg, Nicolas; Ray, Pierre F

    2013-03-01

    We demonstrated previously that 75% of infertile men with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2. We showed that this deletion occurred by Non-Allelic Homologous Recombination (NAHR) between two homologous 28-Kb Low Copy Repeats (LCRs) located on each side of the gene. The accepted NAHR model predicts that inter-chromatid and inter-chromosome NAHR create a deleted and a duplicated recombined allele, while intra-chromatid events only generate deletions. Therefore more deletions are expected to be produced de novo. Surprisingly, array CGH data show that, in the general population, DPY19L2 duplicated alleles are approximately three times as frequent as deleted alleles. In order to shed light on this paradox, we developed a sperm-based assay to measure the de novo rates of deletions and duplications at this locus. As predicted by the NAHR model, we identified an excess of de novo deletions over duplications. We calculated that the excess of de novo deletion was compensated by evolutionary loss, whereas duplications, not subjected to selection, increased gradually. Purifying selection against sterile, homozygous deleted men may be sufficient for this compensation, but heterozygously deleted men might also suffer a small fitness penalty. The recombined alleles were sequenced to pinpoint the localisation of the breakpoints. We analysed a total of 15 homozygous deleted patients and 17 heterozygous individuals carrying either a deletion (n = 4) or a duplication (n = 13). All but two alleles fell within a 1.2-Kb region central to the 28-Kb LCR, indicating that >90% of the NAHR took place in that region. We showed that a PRDM9 13-mer recognition sequence is located right in the centre of that region. Our results therefore strengthen the link between this consensus sequence and the occurrence of NAHR. PMID:23555282

  13. Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

    PubMed Central

    Coutton, Charles; Abada, Farid; Karaouzene, Thomas; Sanlaville, Damien; Satre, Véronique; Lunardi, Joël; Jouk, Pierre-Simon; Arnoult, Christophe; Thierry-Mieg, Nicolas; Ray, Pierre F.

    2013-01-01

    We demonstrated previously that 75% of infertile men with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2. We showed that this deletion occurred by Non-Allelic Homologous Recombination (NAHR) between two homologous 28-Kb Low Copy Repeats (LCRs) located on each side of the gene. The accepted NAHR model predicts that inter-chromatid and inter-chromosome NAHR create a deleted and a duplicated recombined allele, while intra-chromatid events only generate deletions. Therefore more deletions are expected to be produced de novo. Surprisingly, array CGH data show that, in the general population, DPY19L2 duplicated alleles are approximately three times as frequent as deleted alleles. In order to shed light on this paradox, we developed a sperm-based assay to measure the de novo rates of deletions and duplications at this locus. As predicted by the NAHR model, we identified an excess of de novo deletions over duplications. We calculated that the excess of de novo deletion was compensated by evolutionary loss, whereas duplications, not subjected to selection, increased gradually. Purifying selection against sterile, homozygous deleted men may be sufficient for this compensation, but heterozygously deleted men might also suffer a small fitness penalty. The recombined alleles were sequenced to pinpoint the localisation of the breakpoints. We analysed a total of 15 homozygous deleted patients and 17 heterozygous individuals carrying either a deletion (n = 4) or a duplication (n = 13). All but two alleles fell within a 1.2-Kb region central to the 28-Kb LCR, indicating that >90% of the NAHR took place in that region. We showed that a PRDM9 13-mer recognition sequence is located right in the centre of that region. Our results therefore strengthen the link between this consensus sequence and the occurrence of NAHR. PMID:23555282

  14. [Swiss registry for patients with cystic fibrosis: design, programming, implementation and first examples of use].

    PubMed

    Schöni-Affolter, F; Oswald, P; Wandt-Baumann, C; Kriemler, S; Schöni, M H

    2000-09-30

    The Swiss Registry for Cystic Fibrosis (SRCF) was designed to collect demographic, clinical and therapeutic data from patients with cystic fibrosis (CF) in Switzerland. It was designed, programmed and implemented for standalone application in Swiss cystic fibrosis centres. It is part of the European Registry for Cystic Fibrosis (ERCF), which has been implemented in Europe to collect data on the use and safety of dornase alpha (Pulmozyme) in the treatment of cystic fibrosis. At the time of first evaluation 245 cystic fibrosis patients are registered, their mean age is 13 years, and 17% are over 18. In larger databases in Germany or North America we observe comparable demographic data, similar degrees of severity and similar therapeutic approaches to those in Swiss cystic fibrosis patients. The aim of the Swiss Registry is to cover the maximum possible number of cystic fibrosis patients from this country.

  15. Endoscopic approach to the diagnosis of pancreatic cystic tumor

    PubMed Central

    Kawaguchi, Yoshiaki; Mine, Tetsuya

    2016-01-01

    Because of the aging of the population, prevalence of medical checkups, and advances in imaging studies, the number of pancreatic cystic lesions detected has increased. Once these lesions are detected, neoplastic cysts should be differentiated from non-neoplastic cysts. Furthermore, because of the malignant potential of some neoplastic pancreatic cysts, further differentiation between benign and malignant cysts should be made regardless of their size. Although endoscopic ultrasound (EUS) has a very high diagnostic performance for pancreatic cystic lesions among the various imaging modalities, EUS findings alone are insufficient for the differentiation of pancreatic cysts and diagnosis of malignancy. In addition, cytology by EUS-guided fine-needle aspiration (FNA) has a high specificity but a low sensitivity for diagnosing malignancy in pancreatic cystic tumors. The levels of amylase, lipase, and tumor markers in pancreatic cystic fluid are considered auxiliary parameters for diagnosis of benign and malignant cysts, and a definitive diagnosis of malignancy using these parameters is difficult. Thus, in addition to EUS, cytology by EUS-FNA, and cystic fluid analysis, new techniques based on EUS-guided through-the-needle imaging, such as confocal laser endomicroscopy and cystoscopy, have been explored in recent years. PMID:26909130

  16. European experts consensus statement on cystic tumours of the pancreas.

    PubMed

    Del Chiaro, Marco; Verbeke, Caroline; Salvia, Roberto; Klöppel, Gunter; Werner, Jens; McKay, Colin; Friess, Helmut; Manfredi, Riccardo; Van Cutsem, Eric; Löhr, Matthias; Segersvärd, Ralf

    2013-09-01

    Cystic lesions of the pancreas are increasingly recognized. While some lesions show benign behaviour (serous cystic neoplasm), others have an unequivocal malignant potential (mucinous cystic neoplasm, branch- and main duct intraductal papillary mucinous neoplasm and solid pseudo-papillary neoplasm). European expert pancreatologists provide updated recommendations: diagnostic computerized tomography and/or magnetic resonance imaging are indicated in all patients with cystic lesion of the pancreas. Endoscopic ultrasound with cyst fluid analysis may be used but there is no evidence to suggest this as a routine diagnostic method. The role of pancreatoscopy remains to be established. Resection should be considered in all symptomatic lesions, in mucinous cystic neoplasm, main duct intraductal papillary mucinous neoplasm and solid pseudo-papillary neoplasm as well as in branch duct intraductal papillary mucinous neoplasm with mural nodules, dilated main pancreatic duct >6mm and possibly if rapidly increasing in size. An oncological partial resection should be performed in main duct intraductal papillary mucinous neoplasm and in lesions with a suspicion of malignancy, otherwise organ preserving procedures may be considered. Frozen section of the transection margin in intraductal papillary mucinous neoplasm is suggested. Follow up after resection is recommended for intraductal papillary mucinous neoplasm, solid pseudo-papillary neoplasm and invasive cancer.

  17. Cystic micropapillary neoplasm of peribiliary glands with concomitant perihilar cholangiocarcinoma.

    PubMed

    Uchida, Tsuneyuki; Yamamoto, Yusuke; Ito, Takaaki; Okamura, Yukiyasu; Sugiura, Teiichi; Uesaka, Katsuhiko; Nakanuma, Yasuni

    2016-02-21

    We report a case of a 75-year-old man with cystic micropapillary neoplasm of peribiliary glands detected preoperatively by radiologic examination. Enhanced computed tomography showed a low-density mass 2.2 cm in diameter in the right hepatic hilum and a cystic lesion around the common hepatic duct. Under a diagnosis of perihilar cholangiocarcinoma, right hepatectomy with caudate lobectomy and bile duct resection were performed. Pathological examination revealed perihilar cholangiocarcinoma mainly involving the right hepatic duct. The cystic lesion was multilocular and covered by columnar lining epithelia exhibiting increased proliferative activity and p53 nuclear expression; it also contained foci of micropapillary and glandular proliferation. Therefore, the lesion was diagnosed as a cystic micropapillary neoplasm of peribiliary glands and resembled flat branch-type intraductal papillary mucinous neoplasm of the pancreas. Histological examination showed the lesion was discontinuous with the perihilar cholangiocarcinoma. Immunohistochemistry showed the cystic neoplasm was strongly positive for MUC6 and that the cholangiocarcinoma was strongly positive for MUC5AC and S100P. These results suggest these two lesions have different origins. This case warrants further study on whether this type of neoplasm is associated with concomitant cholangiocarcinoma as observed in pancreatic intraductal papillary mucinous neoplasm with concomitant pancreatic duct adenocarcinoma. PMID:26900302

  18. The Panchromatic High-Resolution Spectroscopic Survey of Local Group Star Clusters. I. General data reduction procedures for the VLT/X-shooter UVB and VIS arm

    NASA Astrophysics Data System (ADS)

    Schönebeck, Frederik; Puzia, Thomas H.; Pasquali, Anna; Grebel, Eva K.; Kissler-Patig, Markus; Kuntschner, Harald; Lyubenova, Mariya; Perina, Sibilla

    2014-12-01

    Aims: Our dataset contains spectroscopic observations of 29 globular clusters in the Magellanic Clouds and the Milky Way performed with VLT/X-shooter over eight full nights. To derive robust results instrument and pipeline systematics have to be well understood and properly modeled. We aim at a consistent data reduction procedure with an accurate understanding of the measurement accuracy limitations. Here we present detailed data reduction procedures for the VLT/X-shooter UVB and VIS arm. These are not restricted to our particular dataset, but are generally applicable to different kinds of X-shooter data without major limitation on the astronomical object of interest. Methods: ESO's X-shooter pipeline (v1.5.0) performs well and reliably for the wavelength calibration and the associated rectification procedure, yet we find several weaknesses in the reduction cascade that are addressed with additional calibration steps, such as bad pixel interpolation, flat fielding, and slit illumination corrections. Furthermore, the instrumental PSF is analytically modeled and used to reconstruct flux losses at slit transit. This also forms the basis for an optimal extraction of point sources out of the two-dimensional pipeline product. Regular observations of spectrophotometric standard stars obtained from the X-shooter archive allow us to detect instrumental variability, which needs to be understood if a reliable absolute flux calibration is desired. Results: A cascade of additional custom calibration steps is presented that allows for an absolute flux calibration uncertainty of ≲10% under virtually every observational setup, provided that the signal-to-noise ratio is sufficiently high. The optimal extraction increases the signal-to-noise ratio typically by a factor of 1.5, while simultaneously correcting for resulting flux losses. The wavelength calibration is found to be accurate to an uncertainty level of Δλ ≃ 0.02 Å. Conclusions: We find that most of the X

  19. False-positive radionuclide hepatobiliary imaging following cystic duct stone removal

    SciTech Connect

    Zagoria, R.J.; Cowan, R.J.; Dyer, R.B.; Herrera, M.

    1989-03-01

    The authors report a case in which a radionuclide hepatobiliary image was falsely indicative of cystic duct obstruction in a patient with an indwelling cholecystostomy tube and an externalized gallbladder-duodenal stent. Cystic duct patency was demonstrated radiographically shortly before and after the radionuclide study. The authors recommend that cystic duct obstruction indicated by a radionuclide hepatobiliary image be confirmed by another means if a cholecystostomy tube is present, or if the patient recently has undergone percutaneous gallbladder or cystic duct manipulations.

  20. [Cystic lymphoid hyperplasia of the parotid in relation to acquired immunodeficiency syndrome (HIV+). Apropos of 2 cases].

    PubMed

    Vaillant, J M; Chomette, G; Talbi, M; Labrousse, F; Szpirglas, H; Raphael, B; Gentilini, M; Auriol, M; Guilbert, F

    1989-01-01

    Cystic lymphoid hyperplasia of the parotid, a rare disease, was recently described in patients with acquired immunodeficiency syndrome. We reported here 2 new cases of this illness. The 2 HIV+ patients showed an enlargement of parotid gland. A superficial parotidectomy was performed. The histological and immunohistochemical studies were completed in one case by a histoenzymological and ultrastructural study. We could see numerous cystic cavities lined with a cylindrical or metaplastic malpighian epithelium and surrounded by a lymphoid tissue, similar to a true lymph node with germinal centers. In these lymphoid structures, we could find some epithelial remnants and numerous epimyoepithelial islands. Besides, anomalies similar to those described in persistent generalized lymphadenopathies were obvious: hyperplastic germinal centers with multiplication of B lymphocytes and thin mantle zone, perifollicular hypervascularization, numerous macrophages, plasmocytes and T lymphocytes with increase of T8 cytotoxic subset in interfollicular and paracortical areas. An early opportunist infection is suggested in the histogenesis of this disease. PMID:2727611

  1. Caring for Children with Cystic Fibrosis: A Collaborative Clinical and School Approach

    ERIC Educational Resources Information Center

    Strawhacker, MaryAnn Tapper; Wellendorf, Joyce

    2004-01-01

    Earlier diagnosis and more effective treatments have improved both morbidity and mortality associated with cystic fibrosis, making regular school attendance a reality. School nurses have a unique opportunity to assist students with cystic fibrosis successfully manage their disease. Medical treatment for cystic fibrosis can be complex, leaving…

  2. 75 FR 45646 - Design of Clinical Trials of Aerosolized Antimicrobials for the Treatment of Cystic Fibrosis...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-03

    ... the Treatment of Cystic Fibrosis; Public Workshop AGENCY: Food and Drug Administration, HHS. ACTION... management and/or treatment of patients with cystic fibrosis. Aerosolized antimicrobials are used to treat... design of clinical trials of aerosolized antimicrobials in patients with cystic fibrosis. The input...

  3. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Quality control material for cystic fibrosis... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  4. 21 CFR 866.5900 - Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation detection system.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Cystic fibrosis transmembrane conductance... DEVICES Immunological Test Systems § 866.5900 Cystic fibrosis transmembrane conductance regulator (CFTR... intended as an aid in confirmatory diagnostic testing of individuals with suspected cystic fibrosis...

  5. Meconium ileus equivalent in older patients with cystic fibrosis.

    PubMed

    Hanly, J G; Fitzgerald, M X

    1983-04-30

    Meconium ileus equivalent is one of the lesser known manifestations of cystic fibrosis, and occurs most often in older patients. With the improved overall survival of patients with cystic fibrosis, one would expect to see this condition more often in the future. Of 53 patients attending our cystic fibrosis clinic for adolescents and adults, eight had experienced a total of 25 episodes of meconium ileus equivalent. Recurrent attacks occurred in seven patients, of whom four had at least four separate, well documented episodes: these episodes were associated with obvious recognised precipitating factors in only three patients. All patients responded to appropriate medical treatment with acetylcysteine or sodium diatrizoate, including three who had previously undergone surgery for meconium ileus equivalent elsewhere. Controversies remain, however, concerning the role of prophylactic medical management with acetylcysteine, sodium diatrizoate, and pancreatic supplements. PMID:6404483

  6. Tender Cystic Structure on the Back in an Infant.

    PubMed

    Channual, Stephanie; Fleming, Kristy; Wu, Jashin J

    2016-01-01

    A 1-year-old Hispanic boy with multiple congenital anomalies including a double-outlet right ventricle, significant scoliosis, kyphosis, and multiple hemivertebrae and hemilamina presented with recurrent febrile episodes. He was found to have Staphylococcus epidermidis meningitis, which persisted despite medical management. On physical examination, a 1×1-cm, tender, erythematous cystic structure with a purulent focus was discovered on the upper portion of his back (Figure 1). His mother noted that the structure was not present at birth, but there was a small red area at the time of delivery that had slowly developed into the lesion shown. T2-weighted sagittal magnetic resonance imaging showed a 4-mm sinus connection from the superficial cystic structure (white arrow) to another 2.4×1.5-cm cystic structure (black arrow) at the level of the hemivertebrae (Figure 2). PMID:27072736

  7. Breakthrough therapies: Cystic fibrosis (CF) potentiators and correctors.

    PubMed

    Solomon, George M; Marshall, Susan G; Ramsey, Bonnie W; Rowe, Steven M

    2015-10-01

    Cystic Fibrosis is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene resulting in abnormal protein function. Recent advances of targeted molecular therapies and high throughput screening have resulted in multiple drug therapies that target many important mutations in the CFTR protein. In this review, we provide the latest results and current progress of CFTR modulators for the treatment of cystic fibrosis, focusing on potentiators of CFTR channel gating and Phe508del processing correctors for the Phe508del CFTR mutation. Special emphasis is placed on the molecular basis underlying these new therapies and emerging results from the latest clinical trials. The future directions for augmenting the rescue of Phe508del with CFTR modulators are also emphasized.

  8. Chemoprophylactic and therapeutic efficacy of thymol in murine cystic echinococcosis.

    PubMed

    Maggiore, M; Pensel, P E; Denegri, G; Elissondo, M C

    2015-10-01

    Cystic echinococcosis is a zoonotic disease caused by the larval stage of the cestode Echinococcus granulosus. The drugs commonly used against cystic echinococcosis are benzimidazoles. Unfortunately, 20%-40% of cases do not respond favorably to such chemotherapy. Consequently, the search of new therapeutic alternatives such as the use of traditional medicinal plants has been increased. The aim of the current experimental work was to investigate the chemoprophylactic and clinical efficacy of thymol on mice infected with E. granulosus metacestodes. Thymol (40 mg/kg) was administered under two different therapeutic schemes: dosing every 24h over 20 days and treatment every 12h for 10 days. Thymol demonstrated efficacy against experimental murine cystic echinococcosis. The chemoprophylactic and therapeutic effects of thymol were comparable to that of albendazole. Due to the lack of toxicity observed in mice at the tested doses; we consider that thymol is a potential alternative to be applied for the treatment of human hydatid disease. PMID:26096310

  9. Filling the Holes in Cystic Kidney Disease Research

    PubMed Central

    Guay-Woodford, Lisa M.; Henske, Elizabeth; Igarashi, Peter; Perrone, Ronald D.; Reed-Gitomer, Berenice; Somlo, Stefan; Torres, Vicente E.; Ketchum, Christian J.; Star, Robert A.; Flessner, Michael F.

    2014-01-01

    Kidney disease is a significant medical and public health problem. The National Institute of Diabetes and Digestive and Kidney Diseases recently asked the community to identify research objectives, which, if addressed, could improve understanding of basic kidney function and aid in prevention, treatment, and reversal of kidney disease. The Kidney Research National Dialogue invited interested parties to submit, discuss, and prioritize ideas using an interactive website; 1600 participants posted more than 300 ideas covering all areas of kidney disease, including the cystic kidney diseases. Although much is known about the genetics and pathogenesis of cystic diseases, there remain challenges to our understanding of the fundamental mechanisms of cyst formation, what genes act as modifiers to cause variable responses in different people, and how to detect and monitor disease progression. This article summarizes key research questions for cystic kidney diseases. PMID:24903391

  10. Unusual renal tumour: multilocular cystic renal cell carcinoma.

    PubMed

    Palmeiro, Marta Morna; Niza, João Luz; Loureiro, Ana Luisa; Conceição e Silva, João Paulo

    2016-01-01

    Multilocular cystic renal cell carcinoma (MCRCC) is a rare presentation of renal cell carcinoma. Most patients are asymptomatic and frequently MCRCCs are detected incidentally. MCRCCs have good prognosis because of their low malignant potential. We report a case of a 39-year-old woman who presented with mild right flank pain and normal laboratory data. On imaging examinations, a Bosniak III cystic lesion was detected in the lower third of the right kidney. She underwent right partial nephrectomy and histopathology showed a multilocular cystic renal cell carcinoma Fuhrman grade 1. In this article, we also present a review of the literature on MCRCC, highlight the correlation of the pathological and imaging characteristics of these low aggressive renal lesions, and underscore the importance of their recognition to prevent unnecessary radical surgery. PMID:26957035

  11. Preimplantation genetic diagnosis for cystic fibrosis: a case report

    PubMed Central

    Biazotti, Maria Cristina Santoro; Pinto, Walter; de Albuquerque, Maria Cecília Romano Maciel; Fujihara, Litsuko Shimabukuro; Suganuma, Cláudia Haru; Reigota, Renata Bednar; Bertuzzo, Carmen Sílvia

    2015-01-01

    Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby. PMID:25993078

  12. [Isolation of Nocardia species in patients with cystic fibrosis].

    PubMed

    Barrio, M Isabel; Martínez, M Carmen; Prados, Concepción; Girón, Rosa M; Maiz, Luis; Martínez, M Teresa

    2008-02-01

    The isolation of Nocardia species from the respiratory secretions of patients with cystic fibrosis presents problems with important clinical implications. From the sputum culture of a total of 387 patients with cystic fibrosis, Nocardia species was isolated in 9 cases (2%; 8 females and 1 male) with a mean (SD) age of 17 (7) years. Sixty-seven percent of the patients were asymptomatic and no relevant radiographic or analytical changes were detected. In only 3 patients was of Nocardia species isolated again in successive samples. Two patients were not treated, 7 were treated with cotrimoxazole and 3 with minocycline; in 2 cases therapy was intravenous. After a mean follow-up of 48 (33) months, all patients had improved. Isolation of Nocardia species from the secretions of patients with cystic fibrosis does not necessarily imply infection and the need for treatment should be assessed on an individual basis. PMID:18361877

  13. Chloride transport in the cystic fibrosis enterocyte.

    PubMed

    Bijman, J; Veeze, H; Kansen, M; Tilly, B; Scholte, B; Hoogeveen, A; Halley, D; Sinaasappel, M; de Jonge, H

    1991-01-01

    Molecular mechanisms of intestinal chloride channel regulation and potential abnormalities in electrogenic chloride secretion in intestinal epithelium from cystic fibrosis (CF) patients were investigated by a combination of Ussing chamber, vesicle transport and off-cell patch-clamp analysis. Short circuit current (Isc) measurements in normal and CF rectal biopsies provided evidence for i) a defect in the cAMP-provoked activation of chloride secretion and a (hyper)expression of cAMP-dependent potassium secretion in all CF patients examined (n = 11); ii) a defect in the carbachol-provoked chloride secretion and a (hyper)expression of carbachol-induced potassium secretion in 6/11 patients; iii) a residual (but still impaired) carbachol-induced chloride secretion in 5/11 CF patients (including 2 sibs). The latter class of CF patients appeared to consist genetically of compound heterozygotes for the major delta-F508 deletion, suggesting a correlation between the nature of the mutation in the CF gene and the severity of the chloride secretory defect in CF intestine. In our search for a regulatory function of GTP-binding (G-) proteins detected previously in the luminal membrane of rat and human intestinal epithelial cells, evidence was found for the presence of a GTP[S]-activatable- and GDP[S]-inhibitable chloride conductance in the apical membrane of rat enterocytes and human colonocytes. In excised patches of human colonocyt membranes, this G-proteine-sensitive chloride conductance was identified further as a novel type of chloride channel (20pS; inwardly rectifying) that was different from the 33pS outwardly rectifying chloride channel activatable by cAMP-dependent proteinkinase (PK-A) and voltage depolarization.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. Evidence for a Cystic Fibrosis Enteropathy

    PubMed Central

    Adriaanse, Marlou P. M.; van der Sande, Linda J. T. M.; van den Neucker, Anita M.; Menheere, Paul P. C. A.; Dompeling, Edward; Buurman, Wim A.; Vreugdenhil, Anita C. E.

    2015-01-01

    Background Previous studies have suggested the existence of enteropathy in cystic fibrosis (CF), which may contribute to intestinal function impairment, a poor nutritional status and decline in lung function. This study evaluated enterocyte damage and intestinal inflammation in CF and studied its associations with nutritional status, CF-related morbidities such as impaired lung function and diabetes, and medication use. Methods Sixty-eight CF patients and 107 controls were studied. Levels of serum intestinal-fatty acid binding protein (I-FABP), a specific marker for enterocyte damage, were retrospectively determined. The faecal intestinal inflammation marker calprotectin was prospectively studied. Nutritional status, lung function (FEV1), exocrine pancreatic insufficiency (EPI), CF-related diabetes (CFRD) and use of proton pump inhibitors (PPI) were obtained from the medical charts. Results Serum I-FABP levels were elevated in CF patients as compared with controls (p<0.001), and correlated negatively with FEV1 predicted value in children (r-.734, p<0.05). Faecal calprotectin level was elevated in 93% of CF patients, and correlated negatively with FEV1 predicted value in adults (r-.484, p<0.05). No correlation was found between calprotectin levels in faeces and sputum. Faecal calprotectin level was significantly associated with the presence of CFRD, EPI, and PPI use. Conclusion This study demonstrated enterocyte damage and intestinal inflammation in CF patients, and provides evidence for an inverse correlation between enteropathy and lung function. The presented associations of enteropathy with important CF-related morbidities further emphasize the clinical relevance. PMID:26484665

  15. Cystic Fibrosis Therapy: A Community Ecology Perspective

    PubMed Central

    Haynes, Matthew; Salamon, Peter; Rainey, Paul B.; Youle, Merry; Rohwer, Forest

    2013-01-01

    Current therapy for cystic fibrosis (CF) focuses on minimizing the microbial community and the host’s immune response through the aggressive use of airway clearance techniques, broad-spectrum antibiotics, and treatments that break down the pervasive endobronchial biofilm. Antibiotic selection is typically based on the susceptibility of individual microbial strains to specific antibiotics in vitro. Often this approach cannot accurately predict medical outcomes because of factors both technical and biological. Recent culture-independent assessments of the airway microbial and viral communities demonstrated that the CF airway infection is considerably more complex and dynamic than previously appreciated. Understanding the ecological and evolutionary pressures that shape these communities is critically important for the optimal use of current therapies (in both the choice of therapy and timing of administration) and the development of newer strategies. The climax–attack model (CAM) presented here, grounded in basic ecological principles, postulates the existence of two major functional communities. The attack community consists of transient viral and microbial populations that induce strong innate immune responses. The resultant intense immune response creates microenvironments that facilitate the establishment of a climax community that is slower-growing and inherently resistant to antibiotic therapy. Newer methodologies, including sequence-based metagenomic analysis, can track not only the taxonomic composition but also the metabolic capabilities of these changing viral and microbial communities over time. Collecting this information for CF airways will enable the mathematical modeling of microbial community dynamics during disease progression. The resultant understanding of airway communities and their effects on lung physiology will facilitate the optimization of CF therapies. PMID:23103995

  16. Gastroesophageal reflux in patients with cystic fibrosis.

    PubMed

    Scott, R B; O'Loughlin, E V; Gall, D G

    1985-02-01

    Children with cystic fibrosis (CF) and their asymptomatic siblings were surveyed to determine the incidence of symptomatic gastroesophageal reflux. A subgroup of patients with CF with poor nutritional status were studied with esophageal manometry, 24-hour esophageal pH recording, and pulmonary function testing before and after initiation of supplemental continuous nighttime nasogastric feeds. Of 68 patients with CF greater than or equal to 5 years of age, 20.6% experienced regurgitation and 26.5% had heartburn. In the control group of 23 asymptomatic siblings greater than or equal to 5 years of age, none experienced regurgitation and 5.6% had heartburn. Among the patients there was no significant association between symptoms of gastroesophageal reflux and bronchodilator therapy. Eight patients had normal lower esophageal sphincter pressure of 24.8 +/- 8.8 mm Hg and thoracoabdominal pressure gradient of 11.4 +/- 4.6 mm Hg; peristalsis and upper esophageal sphincter pressure were normal. There was a significant increase in reflux episodes, episodes greater than 5 minutes, duration of the longest episode, and percent time esophageal pH was less than 4 in patients, compared with published control data, for the entire 24-hour period and during sleep. During sleep, continuous nasogastric feeding significantly increased episodes of reflux, but did not result in an increase in percent time esophageal pH was less than 4, and was not associated with evidence of aspiration or deterioration in pulmonary function. Our findings indicate that symptoms of gastroesophageal reflux, heartburn, and regurgitation are more frequent in patients with CF than in asymptomatic siblings and that gastroesophageal reflux is significantly more common in patients with CF than in controls. Nighttime nasogastric feedings can safely be used as a means of nutritional rehabilitation in patients with CF.

  17. Updates on cystic echinococcosis (CE) in Italy.

    PubMed

    Garippa, G

    2006-06-01

    An update on Cystic Echinococcosis (CE) diffusion in Italy during 2003-2005 is reported. CE seems to have a sporadic diffusion in the northern part of the country where this disease plays a minor role (prevalence < 1%). Recent investigations have shown the occurrence of CE cases in humans from the mountains between Reggio Emilia and Modena, with an average year incidence between 9.4 and 5.6/100,000. In Abruzzo prevalences in sheep and cattle are 20.2% and 15.3%, with a fertility of 4.6% and 1.3%, respectively. In the same region, G1 and G3 strains were identified and a prevalence of 31% in dogs was found with CaELISA. In Campania, CE prevalence was 14.8% in cattle, with no viable cysts recovered, and 10.5% in water buffaloes, with a fertility of 1.4%. Biotechnologies allowed to find G1 and G3 strains in water buffaloes. In Sicily, CE was found in 67.1% of cattle, with a fertility of 4%, and in 57.6% of sheep, with 9.2% of viable cysts. Biomolecular investigations have found G1 strain in sheep and cattle. In dogs, a prevalence of 5.6% for Echinococcus granulosus was reported. In Sardinia CE prevalence was 75.3% in sheep and 41.5% in cattle, with a fertility of 10.3% and 2.6%, respectively. CE was found also in 9.4% of pigs, with fertility of 6.5%. The G1 strain was recovered in sheep and cattle while the G7 in pigs.

  18. Gastroesophageal Reflux Disease in Children with Cystic Fibrosis.

    PubMed

    Dziekiewicz, Marcin A; Banaszkiewicz, Aleksandra; Urzykowska, Agnieszka; Lisowska, Aleksandra; Rachel, Marta; Sands, Dorota; Walkowiak, Jaroslaw; Radzikowski, Andrzej; Albrecht, Piotr

    2015-01-01

    Previously published studies have indicated that gastroesophageal reflux (GER) disease is common in pediatric patients with cystic fibrosis. The aim of the present study was to get insight into the incidence of GER and to characterize the nature of reflux episodes in children with cystic fibrosis. This was a multicenter, prospective study of children with cystic fibrosis older than 18 months. Forty four consecutive patients (22 boys, mean age 10.4 ± 3.6, range 3.0-17.8 years) were enrolled into the study. All patients underwent 24 h pH-impedance monitoring. GER were classified according to the widely recognized criteria as an acid, weakly acid, weakly alkaline, or proximal. The pH-impedance trace was considered abnormal when acid exposure was >6 %. GER was diagnosed in 24/44 (54.5 %) children. A total of 1585 (median 35, range 7-128) reflux episodes were detected; 1199 (75.6 %) were acidic, 382 (24.1 %) weakly acidic, and 4 (0.3 %) weakly alkaline. Six hundred and ninety-one (43.6 %) reflux episodes reached the proximal esophagus. In 14/44 patients typical GER symptoms were present. We conclude that the incidence of GER in children with cystic fibrosis is very high. In the majority of patients typical GER symptoms are absent. Therefore, diagnostic procedures should be considered, regardless of lacking symptoms. Although acid reflux episodes predominate in children with cystic fibrosis, classical pH-metry may not constitute a sufficient diagnostic method in this population because of a relatively high number of proximal reflux episodes. Such episodes also indicate an increased risk for aspiration. The pH-impedance diagnostic measurement is advocated when suspecting GER in children with cystic fibrosis.

  19. Novel molecular approaches to cystic fibrosis gene therapy

    PubMed Central

    Lee, Tim W. R.; Matthews, David A.; Blair, G. Eric

    2005-01-01

    Gene therapy holds promise for the treatment of a range of inherited diseases, such as cystic fibrosis. However, efficient delivery and expression of the therapeutic transgene at levels sufficient to result in phenotypic correction of cystic fibrosis pulmonary disease has proved elusive. There are many reasons for this lack of progress, both macroscopically in terms of airway defence mechanisms and at the molecular level with regard to effective cDNA delivery. This review of approaches to cystic fibrosis gene therapy covers these areas in detail and highlights recent progress in the field. For gene therapy to be effective in patients with cystic fibrosis, the cDNA encoding the cystic fibrosis transmembrane conductance regulator protein must be delivered effectively to the nucleus of the epithelial cells lining the bronchial tree within the lungs. Expression of the transgene must be maintained at adequate levels for the lifetime of the patient, either by repeat dosage of the vector or by targeting airway stem cells. Clinical trials of gene therapy for cystic fibrosis have demonstrated proof of principle, but gene expression has been limited to 30 days at best. Results suggest that viral vectors such as adenovirus and adeno-associated virus are unsuited to repeat dosing, as the immune response reduces the effectiveness of each subsequent dose. Nonviral approaches, such as cationic liposomes, appear more suited to repeat dosing, but have been less effective. Current work regarding non-viral gene delivery is now focused on understanding the mechanisms involved in cell entry, endosomal escape and nuclear import of the transgene. There is now increasing evidence to suggest that additional ligands that facilitate endosomal escape or contain a nuclear localization signal may enhance liposome-mediated gene delivery. Much progress in this area has been informed by advances in our understanding of the mechanisms by which viruses deliver their genomes to the nuclei of host

  20. Abdominal Cystic Echinococcosis Treated with Albendazole. A Pediatric Cohort Study

    PubMed Central

    Moroni, Samanta; Moscatelli, Guillermo; Bournissen, Facundo García; González, Nicolás; Ballering, Griselda; Freilij, Héctor; Salgueiro, Fabián; Altcheh, Jaime

    2016-01-01

    Introduction Cystic echinococcosis is endemic in Argentina. The standard pharmacological treatment for the disease is albendazole, but surgery is a common alternative. Even though primary infection occurs mainly in the pediatric population, the optimal therapeutic option in pediatrics is not clearly defined and few pediatric cohorts with cystic echinococcosis treated with albendazole have been described to date. Objective To describe therapeutic response to albendazole in a cohort of pediatric patients with abdominal cystic echinococcosis. Population and Methods Patients (0–18 years old) with abdominal cystic echinococcosis who were treated with albendazole between January 1998 and August 2013. Diagnosis of abdominal cystic echinococcosis was made by ultrasound. All patients received albendazole, 10–15 mg/kg/day. Epidemiological data, symptoms, number, location and outcome of the cysts, serology and treatment received were analyzed. The parameter used to assess treatment response was cyst changes evaluated by ultrasound follow up using the WHO-IWGE classification. Results A total of 28 patients (with 46 abdominal cysts) were included in the cohort. Mean age at enrolment was 9.4 years and mean duration of follow-up, 23.8 months. All patients resided in rural areas and had had contact with dogs. The asymptomatic form of the disease was the most common presentation. All patients received albendazole (mean duration: 142.5 days), with low incidence of adverse events. Albendazole had a positive effect on most of the cysts. Surgery was performed in 13 patients. Conclusion Treatment with albendazole for uncomplicated cystic echinococcosis cysts is safe and effective, and can potentially reduce the need for surgical intervention. PMID:27589236

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

    PubMed

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

    2016-01-01

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

  2. Clinical Significance of Microbial Infection and Adaptation in Cystic Fibrosis

    PubMed Central

    Hauser, Alan R.; Jain, Manu; Bar-Meir, Maskit; McColley, Susanna A.

    2011-01-01

    Summary: A select group of microorganisms inhabit the airways of individuals with cystic fibrosis. Once established within the pulmonary environment in these patients, many of these microbes adapt by altering aspects of their structure and physiology. Some of these microbes and adaptations are associated with more rapid deterioration in lung function and overall clinical status, whereas others appear to have little effect. Here we review current evidence supporting or refuting a role for the different microbes and their adaptations in contributing to poor clinical outcomes in cystic fibrosis. PMID:21233507

  3. A Huge Mature Cystic Teratoma in a Nulliparous Patient

    PubMed Central

    Gunduz, Melih; Pata, Ozlem; Unlu, Cihat

    2015-01-01

    Here we report a case of a giant mature cystic teratoma of the ovary in a 38-year-old nullipaous woman. The patient presented with abdominal distension and abdominal pain. Laparotomy and cystectomy yielded satisfactory results. Histologic evaluation confirmed a benign cystic teratoma of the ovary. The patient underwent surgery for rupture of corpus luteum six years ago and no gross lesion was seen at the operation. This case demonstrates that dermoid cysts can grow to enormous sizes within a short duration. PMID:26500962

  4. Extraconal cystic schwannoma mimicking an orbital dermoid cyst.

    PubMed

    Feijó, Eduardo Damous; Nery, Ana Carla de Souza; Caiado, Fábio Ramos; Prehis, Aline Maria; Limongi, Roberto Murillo

    2016-01-01

    To our knowledge, we report the first case of an extraconal orbital cystic schwannoma in Brazilian literature. The tumor grew slowly and progressively and was associated with minimal eccentric proptosis and diplopia. The radiologic study (orbital computed tomography) revealed a rounded, encapsulated, and extraconal cystic mass in the superior medial region of the right orbit in the supraorbital and supratrochlear nerve topography. An anterior orbitotomy with full excision of the tumor was performed, and the histopathology examination revealed that the tumor was a schwannoma. After the surgery, the patient experienced total remission of his symptoms. PMID:27626153

  5. The Approach to Pseudomonas aeruginosa in Cystic Fibrosis.

    PubMed

    Talwalkar, Jaideep S; Murray, Thomas S

    2016-03-01

    There is a high prevalence of Pseudomonas aeruginosa in patients with cystic fibrosis and clear epidemiologic links between chronic infection and morbidity and mortality exist. Prevention and early identification of infection are critical, and stand to improve with the advent of new vaccines and laboratory methods. Once the organism is identified, a variety of treatment options are available. Aggressive use of antipseudomonal antibiotics is the standard of care for acute pulmonary exacerbations in cystic fibrosis, and providers must take into account specific patient characteristics when making treatment decisions related to antibiotic selection, route and duration of administration, and site of care.

  6. Renal cystic disease: new insights for the clinician.

    PubMed

    Avner, Ellis D; Sweeney, William E

    2006-10-01

    This article cannot comprehensively cover the enormous strides made in defining the molecular and cellular basis of renal cystic diseases over the last decade. Therefore, it provides a brief overview and categorization of inherited, developmental, and acquired renal cystic diseases, providing a relevant, up-to-date bibliography as well as a useful list of informative Internet Web sites. Its major focus is the translational biology of polycystic kidney disease. It demonstrates how emerging molecular and cellular knowledge of the pathophysiology of particular diseases such as autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ADPKD) can translate into innovative therapeutic insights.

  7. Mutation analysis in 600 French cystic fibrosis patients.

    PubMed Central

    Chevalier-Porst, F; Bonardot, A M; Gilly, R; Chazalette, J P; Mathieu, M; Bozon, D

    1994-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chromosomes) are G542X (3.3%), N1303K (1.8%), W1282X (1.5%), 1717-1G-->A (1.3%), 2184delA + 2183 A-->G (0.9%), and R553X (0.8%). Images PMID:7525963

  8. 394delTT: a Nordic cystic fibrosis mutation.

    PubMed

    Schwartz, M; Anvret, M; Claustres, M; Eiken, H G; Eiklid, K; Schaedel, C; Stolpe, L; Tranebjaerg, L

    1994-02-01

    In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where it turned out to be the second most frequent mutation, accounting for 4% of all CF mutations. It also occurs with a high frequency in Finland, but has not been found in larger surveys of mutations in the CFTR gene. Thus, 394delTT seems to be a specific Nordic CF mutation.

  9. Exercise and Cystic Fibrosis (CF) 2.0.

    PubMed

    Cerny, Frank

    2013-11-01

    In 1989 we knew that exercise, including regular prescribed physical activity, could be safely performed and described some of the physiological responses to exercise in patients with cystic fibrosis (CF). Also in 1989, the genetic defect causing cystic fibrosis (CF) was identified leading to improvements in treatment that greatly extended the life span for these patients. Increased understanding of the factors limiting exercise capacity and of the important role of regular exercise in slowing the progression of CF and in modulating some of the effects of the genetic defect on airway function has led to the consensus that regular exercise should be part of the standard of care for this disease. PMID:24214443

  10. Adenoid cystic carcinoma of the accessory parotid gland.

    PubMed

    Baklacı, Deniz; Güngör, Volkan; Özcan, Müge; Yılmaz, Yavuz Fuat; Ünal, Adnan; Çolak, Aysel

    2015-01-01

    Accessory parotid gland is a small salivary gland tissue separated from main part of parotid gland. It is located on the masseter muscle anterior to the Stensen's duct. Tumors of accessory parotid gland are rare. In this article, we report an unusual case of adenoid cystic carcinoma involving accessory parotid gland. The patient presented with a progressively growing mass in the middle portion of her cheek. She underwent a partial parotidectomy including both the superficial and accessory lobes. The histopathologic diagnosis was adenoid cystic carcinoma of cribriform type. PMID:26476520

  11. Adenocarcinoma of the lung presenting with atypical cystic brain lesions.

    PubMed

    Costa, Ricardo; Costa, Rubens B; Bacchi, Carlos; Sarinho, Filipe

    2014-04-09

    Brain metastases occur in up to 10-30% of patients with cancer. Metastatic lesions are usually diagnosed as multiple mass lesions at the junction of the grey and white matter with associated perilesional vasogenic oedema. Cysticercosis is an endemic disease in underdeveloped countries of Africa, Central and South America and is the most common parasitic infection of the central nervous system. The classical radiological finding of neurocysticercosis is cystic lesions showing the scolex in the brain parenchyma. We report a case of metastatic adenocarcinoma of the lung presenting with cystic brain lesions mimicking neurocysticercosis.

  12. Adenocarcinoma of the lung presenting with atypical cystic brain lesions

    PubMed Central

    Costa, Ricardo; Costa, Rubens B; Bacchi, Carlos; Sarinho, Filipe

    2014-01-01

    Brain metastases occur in up to 10–30% of patients with cancer. Metastatic lesions are usually diagnosed as multiple mass lesions at the junction of the grey and white matter with associated perilesional vasogenic oedema. Cysticercosis is an endemic disease in underdeveloped countries of Africa, Central and South America and is the most common parasitic infection of the central nervous system. The classical radiological finding of neurocysticercosis is cystic lesions showing the scolex in the brain parenchyma. We report a case of metastatic adenocarcinoma of the lung presenting with cystic brain lesions mimicking neurocysticercosis. PMID:24717598

  13. Cystic granular cell tumor mimicking Rathke cleft cyst.

    PubMed

    Mumert, Michael L; Walsh, Michael T; Chin, Steven S; Couldwell, William T

    2011-02-01

    Symptomatic granular cell tumors of the neurohypophysis are a rarely reported entity. To the authors' knowledge, they report the first fully described case of a symptomatic granular cell tumor with a large cystic component. A 31-year-old woman presented with headaches and visual complaints with imaging findings confirming a cystic sellar and suprasellar mass. The lesion was resected, and histological examination confirmed the diagnosis. The literature has shown that granular cell tumors are rarely reported as being symptomatic but may actually be a fairly common finding in autopsy studies. The authors review the literature with a specific focus on radiographic findings in patients with symptomatic granular cell tumors.

  14. Retroperitoneal cystic metastasis from a small clear cell renal carcinoma.

    PubMed

    Ishii, N; Yonese, J; Tsukamoto, T; Maezawa, T; Ishikawa, Y; Fukui, I

    2001-11-01

    A 39-year-old housewife was referred to our hospital for the treatment of a small renal tumor. A 25 x 35 mm cystic mass that had been detected by computerized tomography scan just caudal to the renal hilus proved to be a metastasis from the renal carcinoma of clear cell type. The pathogenesis may have been due to tumor cells obstructing a lymphatic vessel draining the kidney. Cystic metastasis from renal cell carcinoma is very rare and this appears to be the second published case in the world.

  15. Isolated visceral leishmaniasis presenting as an adrenal cystic mass.

    PubMed

    Brenner, D S; Jacobs, S C; Drachenberg, C B; Papadimitriou, J C

    2000-10-01

    A 69-year-old woman presented with a large left retroperitoneal suprarenal mass. Radical resection of the left kidney and the mass revealed a cystic adrenal tumor with a weight of 1500 g. Histologic examination showed that the cyst was composed mostly of partially organized clotted blood. The periphery of the mass consisted of a thin rim of cortical and medullary adrenal tissue with superimposed granulomatous chronic inflammation. The infectious nature of the process was manifested by the scattered intracellular and extracellular Leishmania amastigotes that were found throughout the lesion. The differential diagnosis of cystic adrenal masses and the unusual presentation of visceral leishmaniasis are discussed in this context.

  16. Identification and surgical management of cystic retroperitoneal lymphangioma in children.

    PubMed

    Waldhausen, J H; Holterman, M J; Tapper, D

    1996-04-01

    Retroperitoneal lymphangiomas are rare, benign cystic structures that are best evaluated with computed tomography and ultrasound. Preoperative diagnosis is often difficult, in part because there is little to distinguish them from other cystic masses and because the lesion is often not considered on the differential diagnosis. Surgery may be required as both a diagnostic and therapeutic measure. The cysts may be asymptomatic for years and then present because of compression of surrounding structures or pain. The treatment is as complete surgical excision as is possible. Bowel cleansing should be done preoperatively. The long-term results are excellent when total excision or near-total excision with marsupialization is accomplished.

  17. [Retroperitoneoscopic operations in cystic lesions of the kidneys].

    PubMed

    Zakhmatov, Iu M; Kornev, A I; Otvetchikov, I N; Trofimov, K S

    2004-01-01

    In 1997-2002 retroperitoneoscopic dissection of renal cyst walls (RDRC) was made in 21 patients. Computed tomography, excretory urography, retrograde ureteropyelography were conducted in 14, 3 and 2 patients, respectively. Ultrasonic investigation was made in all the patients before and after operation. Dissection of the cystic walls was successful in 20 of 21 patients, material for cytological and histological examinations was also obtained. Advantages of endoscopic operations are now obvious, so RDRS is perspective in cystic lesions of the kidneys and its usage will increase.

  18. An algorithm for generalizing topography to grids while preserving subscale morphologic characteristics—creating a glacier bed DEM for Jakobshavn trough as low-resolution input for dynamic ice-sheet models

    NASA Astrophysics Data System (ADS)

    Herzfeld, Ute C.; Wallin, Bruce F.; Leuschen, Carlton J.; Plummer, Joel

    2011-11-01

    The objective of this paper is to derive an algorithm for preserving important subscale morphologic characteristics at grids of lower-resolution, in particular for linear features such as canyons and ridge lines. The development of such an algorithm is necessitated by applications that require reduced spatial resolution, as is common in cartographic generalization, GIS applications, and geophysical modeling. Since any algorithm that results in weighted averages, including optimum interpolation and ordinary kriging, cannot reproduce correct depths, a new algorithm is designed based on principles of mathematical morphology. The algorithm described here is applied to derive a subglacial bed of the Greenland Ice Sheet that includes the trough of Jakobshavn Isbræ as a continuous canyon at correct depth in a low-resolution (5-km) digital elevation model (DEM). Data from recent airborne radar measurements of the elevation of the subglacial bed as part of the CReSIS project are utilized. The morphologic algorithm is designed with geophysical ice-sheet modeling in mind, in the following context. Currently occurring changes in the Earth's climate and the cryosphere cause changes in sea level, and the societal relevance of these natural processes motivates estimation of maximal sea-level rise in the medium-term future. The fast-moving outlet glaciers are more sensitive to climatic change than other parts of the Greenland ice sheet. Jakobshavn Isbrae, the fastest-moving ice stream in Greenland, follows a subglacial geologic trough. Since the existence of the trough causes the acceleration of the slow-moving inland ice in the Jakobshavn region and the formation of the ice stream, correct representation of the trough in a DEM is essential to model changes in the dynamics of the ice sheet and resultant sea-level predictions, even if current ice-sheet models can typically be run only at 5-km resolution. The DEM resultant from this study helps to bridge the conceptual gap between

  19. International practice patterns by age and severity of lung disease in cystic fibrosis: data from the Epidemiologic Registry of Cystic Fibrosis (ERCF).

    PubMed

    Koch, C; McKenzie, S G; Kaplowitz, H; Hodson, M E; Harms, H K; Navarro, J; Mastella, G

    1997-08-01

    The Epidemiologic Registry of Cystic Fibrosis provides clinical profiles for more than 6,800 patients and descriptions of practice patterns across eight European countries. Preliminary cross-sectional analysis has been performed by age and pulmonary function as an assessment of disease severity. In general, pulmonary treatments including inhaled bronchodilators and rhDNase increased as lung disease became more severe. Use of a number of treatments, including mucolytic agents and inhaled corticosteroids, varied markedly from country to country. Several widely used therapies are not yet supported by controlled clinical trials, particularly in patients under 6 years of age. Nutritional intervention was more common in patients with advanced lung disease regardless of age. Patients with nasal polyps had less severe lung disease at each age than patients without polyps. It is clear that studies of early interventions are needed to determine the optimal types of treatments and the ages at which to begin treatment.

  20. 43 CFR 10.17 - Dispute resolution.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false Dispute resolution. 10.17 Section 10.17... REPATRIATION REGULATIONS General § 10.17 Dispute resolution. (a) Formal and informal resolutions. Any person... a fair resolution of the matter. The Review Committee may aid in this regard as described below....

  1. [United Nations Resolutions. Resolution on Prison Education. Resolution on Basic Principles for the Treatment of Prisoners. Resolution on Criminal Justice Education.

    ERIC Educational Resources Information Center

    United Nations, New York, NY.

    This document contains three United Nations resolutions that emphasize the role and practice of prison education. The three resolutions were adopted in 1990: (1) the Economic and Social Council Resolution 1990/20 on prison education; (2) the General Assembly Resolution 45/111 on basic principles for the treatment of prisoners; and (3) General…

  2. Diagnosis of cystic lymphangioma of the colon by endoscopic ultrasound: Biopsy is not needed!

    PubMed Central

    Bhutani, Manoop S.; Annangi, Srinadh; Koduru, Pramoda; Aggarwal, Aakash; Suzuki, Rei

    2016-01-01

    Cystic lymphangioma of the colon (CLC) is a rare benign lesion that is usually asymptomatic and found incidentally during colonoscopy. Limitations in the conventional noninvasive diagnostic techniques have led to surgical resection of these lesions for diagnostic confirmation. Classic endoscopic ultrasound (EUS) findings of colonic cystic lymphangioma are submucosal anechoic cystic spaces with septations, intact muscularis propria, and no solid component. Patients who are asymptomatic with lesions having classic appearance as cystic lymphangioma with EUS can be observed without any intervention. We herein report a case of cystic lymphangioma of distal transverse colon in an asymptomatic patient diagnosed noninvasively using 20-MHz miniprobe EUS and managed conservatively without any surgical intervention. PMID:27803907

  3. Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

    PubMed Central

    Wainwright, C.E.; Elborn, J.S.; Ramsey, B.W.; Marigowda, G.; Huang, X.; Cipolli, M.; Colombo, C.; Davies, J.C.; De Boeck, K.; Flume, P.A.; Konstan, M.W.; McColley, S.A.; McCoy, K.; McKone, E.F.; Munck, A.; Ratjen, F.; Rowe, S.M.; Waltz, D.; Boyle, M.P.

    2016-01-01

    BACKGROUND Cystic fibrosis is a life-limiting disease that is caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is the most common CFTR mutation. METHODS We conducted two phase 3, randomized, double-blind, placebo-controlled studies that were designed to assess the effects of lumacaftor (VX-809), a CFTR corrector, in combination with ivacaftor (VX-770), a CFTR potentiator, in patients 12 years of age or older who had cystic fibrosis and were homozygous for the Phe508del CFTR mutation. In both studies, patients were randomly assigned to receive either lumacaftor (600 mg once daily or 400 mg every 12 hours) in combination with ivacaftor (250 mg every 12 hours) or matched placebo for 24 weeks. The primary end point was the absolute change from baseline in the percentage of predicted forced expiratory volume in 1 second (FEV1) at week 24. RESULTS A total of 1108 patients underwent randomization and received study drug. The mean baseline FEV1 was 61% of the predicted value. In both studies, there were significant improvements in the primary end point in both lumacaftor–ivacaftor dose groups; the difference between active treatment and placebo with respect to the mean absolute improvement in the percentage of predicted FEV1 ranged from 2.6 to 4.0 percentage points (P<0.001), which corresponded to a mean relative treatment difference of 4.3 to 6.7% (P<0.001). Pooled analyses showed that the rate of pulmonary exacerbations was 30 to 39% lower in the lumacaftor–ivacaftor groups than in the placebo group; the rate of events leading to hospitalization or the use of intravenous antibiotics was lower in the lumacaftor–ivacaftor groups as well. The incidence of adverse events was generally similar in the lumacaftor–ivacaftor and placebo groups. The rate of discontinuation due to an adverse event was 4.2% among patients who received lumacaftor–ivacaftor versus 1.6% among those who received placebo

  4. Neutrophil cell death, activation and bacterial infection in cystic fibrosis

    PubMed Central

    Watt, A; Courtney, J; Moore, J; Ennis, M; Elborn, J

    2005-01-01

    Background: Cystic fibrosis (CF) is characterised by chronic endobronchial bacterial infection and neutrophil mediated inflammation. Neutrophil apoptosis is essential for the resolution of inflammation. This study assessed the relationship between levels of neutrophil apoptosis and sputum microbiology in matched clinically stable patients with CF. Methods: Sputum was induced from 34 patients (nine with no Gram negative infection, 10 colonised with Pseudomonas aeruginosa, 10 with Burkholderia cenocepacia, and five with other infections). Apoptotic neutrophils measured by flow cytometric Annexin V/propidium iodide staining and morphology were similar in all groups. Results: Patients infected with P aeruginosa or B cenocepacia had a significantly lower percentage of viable neutrophils in the sputum than those with no Gram negative infection (Kruskal-Wallis p = 0.01, median (interquartile range (IQR)) 14.2% (9.4–21.6), 15.8% (12.3–19.5), and 48.4% (23.0–66.4); p = 0.003 and p = 0.002, respectively). They also had significantly higher levels of secondary necrotic granulocytes in sputum than patients with no Gram negative infection (Kruskal-Wallis p<0.0001, median (IQR) 55.5% (48.4–64.5), 50.4% (44.6–61.9), and 24.8% (14.4–30.5); p<0.0001 and p<0.0001, respectively). Neutrophils (x106/g sputum) in P aeruginosa infected patients (Kruskal-Wallis p = 0.05, median (IQR) 6.3 (3.5–12.7)) and B cenocepacia infected patients (5.7 (1.5–14.5)) were significantly higher than in the group with no Gram negative infection (0.5 (0.5–4.3), p = 0.03 and 0.04, respectively). Conclusion: These results suggest that cell death and clearance may be altered in patients with CF colonised with P aeruginosa and B cenocepacia compared with those with no Gram negative infection. PMID:16061707

  5. Technology evaluation: cystic fibrosis therapy, Genzyme.

    PubMed

    Cockett, M I

    1999-04-01

    Genzyme is developing therapies to replace the defective forms of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein in CF patients. The company is developing a gene therapy, as well as a recombinant production of CFTR for protein replacement therapy. Both approaches have been granted orphan drug status by the FDA [156348]. The results of several clinical trials were discussed at the first annual meeting of the American Society of Gene Therapy in May 1998. A single dose nasal administration was well tolerated by volunteers, but had disappointing efficacy. In a study completed at the Royal Brompton Hospital, London, a single dose aerosol application of GL-67:DOPE was administered to eight patients, while another eight received GL-67:DOPE plus pCF1-CFTR. In the second group, a moderate increase in the potential difference in the lung was observed, with a slight trend towards bacterial adherence normalization in the airway cells. Seven of the patients in the second group, and three patients who received lipid alone, developed, flu-like symptoms within 24 h. A trial at the University of Alabama, using the same formulation, showed that flu-like symptoms developed in six of eight patients by day two, and in all patients by day seven [290120]. In 1995, the company began a clinical safety trial involving delivery of a normal CF gene to the patient's lungs via an adenovirus vector. The administration involves the inhalation of an aerosol containing the vector or, separately, delivery to one lobe of the patient's lung via a bronchoscope [191678]. To evaluate additional delivery methods for the gene, Genzyme has an exclusive research agreement for the use of Vical's cytofectins as non-viral delivery vectors for CFTR. Also under investigation are delivery systems for the nasal epithelium using liposomes or lipid-DNA complexes. These protocols are being developed in collaboration with the National Heart & Lung Institute, London, and an undisclosed

  6. L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis

    SciTech Connect

    Rozen, R.; Ferreira-Rajabi, L.; Robb, L.

    1995-07-03

    Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 400 mutations have been reported at this locus. Although severe forms of cystic fibrosis are usually associated with pancreatic insufficiency, pulmonary dysfunction, and elevated sweat chloride, there is a wide range of phenotypes, including congenital absence of the vas deferens, observed with some of the milder mutations. The L206W mutation, which was first identified in patients from South France, is relatively frequent in French Canadians from Quebec. In this report, we document the atypical form of cystic fibrosis associated with this mutation in a cohort of 7 French Canadian probands. 20 refs.

  7. Laparoscopic Management of a Very Rare Case: Cystic Artery Pseudoaneurysm Secondary to Acute Cholecystitis

    PubMed Central

    Ferahman, Sina; Demiryas, Süleyman; Samanci, Cesur

    2016-01-01

    Pseudoaneurysm of a cystic artery is a rare entity that commonly occurs secondary to biliary procedures. Most of the cases in literature are consisted of ruptured aneurysms and to our knowledge, except our case, there were only 3 cases with unruptured aneurysms, which incidentally were detected by radiological methods. When cystic artery pseudoaneurysm is present with acute cholecystitis, most of the reports in literature suggested open cholecystectomy with the ligation of the cystic artery as a main treatment option. In this paper we present a case of acute cholecystitis with unruptured cystic artery pseudoaneurysm that incidentally was detected by computed tomography (CT). Cystic artery pseudoaneurysm was handled laparoscopically with simultaneous cholecystectomy. Due to high risk of rupture, surgeons have evaded laparoscopic approach to acute cholecystitis, which accompanied cystic artery pseudoaneurysm. However herein, we proved that laparoscopic management of cystic artery pseudoaneurysm with simultaneous cholecystectomy is feasible and reliable method. PMID:27635274

  8. Laparoscopic Management of a Very Rare Case: Cystic Artery Pseudoaneurysm Secondary to Acute Cholecystitis.

    PubMed

    Alis, Deniz; Ferahman, Sina; Demiryas, Süleyman; Samanci, Cesur; Ustabasioglu, Fethi Emre

    2016-01-01

    Pseudoaneurysm of a cystic artery is a rare entity that commonly occurs secondary to biliary procedures. Most of the cases in literature are consisted of ruptured aneurysms and to our knowledge, except our case, there were only 3 cases with unruptured aneurysms, which incidentally were detected by radiological methods. When cystic artery pseudoaneurysm is present with acute cholecystitis, most of the reports in literature suggested open cholecystectomy with the ligation of the cystic artery as a main treatment option. In this paper we present a case of acute cholecystitis with unruptured cystic artery pseudoaneurysm that incidentally was detected by computed tomography (CT). Cystic artery pseudoaneurysm was handled laparoscopically with simultaneous cholecystectomy. Due to high risk of rupture, surgeons have evaded laparoscopic approach to acute cholecystitis, which accompanied cystic artery pseudoaneurysm. However herein, we proved that laparoscopic management of cystic artery pseudoaneurysm with simultaneous cholecystectomy is feasible and reliable method. PMID:27635274

  9. Laparoscopic Management of a Very Rare Case: Cystic Artery Pseudoaneurysm Secondary to Acute Cholecystitis

    PubMed Central

    Ferahman, Sina; Demiryas, Süleyman; Samanci, Cesur

    2016-01-01

    Pseudoaneurysm of a cystic artery is a rare entity that commonly occurs secondary to biliary procedures. Most of the cases in literature are consisted of ruptured aneurysms and to our knowledge, except our case, there were only 3 cases with unruptured aneurysms, which incidentally were detected by radiological methods. When cystic artery pseudoaneurysm is present with acute cholecystitis, most of the reports in literature suggested open cholecystectomy with the ligation of the cystic artery as a main treatment option. In this paper we present a case of acute cholecystitis with unruptured cystic artery pseudoaneurysm that incidentally was detected by computed tomography (CT). Cystic artery pseudoaneurysm was handled laparoscopically with simultaneous cholecystectomy. Due to high risk of rupture, surgeons have evaded laparoscopic approach to acute cholecystitis, which accompanied cystic artery pseudoaneurysm. However herein, we proved that laparoscopic management of cystic artery pseudoaneurysm with simultaneous cholecystectomy is feasible and reliable method.

  10. Conflict resolution.

    PubMed

    Levin, Roger

    2006-03-01

    The sooner conflict is identified and confronted, the more quickly it can be resolved (and the sooner, the better). When this is accomplished calmly and objectively, many areas of conflict will be eliminated. Addressing conflict as it arises also sends a clear message to the team that the practice seeks resolution, not punishment or negative consequences. In addition, the dentist and the office manager need to lead by example by avoiding gossip and encouraging open communication. The goal is to go from a parent-child relationship with the dental team to an adult-adult relationship using this series of managerial conflict resolution steps.

  11. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis

    SciTech Connect

    Miller, P.W.; Hamosh, A.; Macek, M. Jr.

    1996-07-01

    The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic fibrosis (CF) patients can occur in some individuals with ABPA. Reports of familial occurrence of ABPA and increased incidence in CF patients suggest a possible genetic basis for the disease. To test this possibility, the entire coding region of the cystic fibrosis transmembrane regulator (CFTR) gene was analyzed in 11 individuals who met strict criteria for the diagnosis of ABPA and had normal sweat electrolytes ({le}40 mmol/liter). One patient carried two CF mutations ({Delta}F508/R347H), and five were found to carry one CF mutation (four {Delta}F508; one R117H). The frequency of the {Delta}F508 mutation in patients with ABPA was significantly higher than in 53 Caucasian patients with chronic bronchitis (P < .0003) and the general population (P < .003). These results suggest that CFTR plays an etiologic role in a subset of ABPA patients. 54 refs., 2 tabs.

  12. Lacrimal gland adenoid cystic carcinoma: intracranial and extracranial en bloc resection.

    PubMed

    Marsh, J L; Wise, D M; Smith, M; Schwartz, H

    1981-10-01

    Adenoid cystic carcinoma of the lacrimal gland is a rare tumor, although it is the malignancy most frequently arising in the gland. Treatment has been unsuccessful generally, with a 15-year survival of less than 20 percent. Our experience with this tumor in a 61-year-old woman has led to a proposal for therapeutic management based on awareness of the lesion's natural history, an understanding of regional anatomy, and familiarity with therapies reported in the literature. The feasibility of adequate tumor ablation is determined from preoperative evaluation, including CT scan, initial exploratory craniotomy, and frozen-section examination of the cranial nerves transversing the orbit. Once resectability is confirmed, "curative" intracranial and extracranial en bloc resection is performed, including the tumor, the lacrimal gland, and all contiguous structures. The defect is immediately resurfaced with and "ice cream cone" forehead flap in anticipation of adjuvant radiotherapy. An orbital prosthesis is fitted as soon as the radiation reaction subsides, and a postablative CT scan is obtained as the baseline for follow-up. It remains to be seen whether this application of the technology of CT scanning and the techniques of craniofacial surgery will improve the prognosis for adenoid cystic carcinoma arising in the lacrimal gland. PMID:6269133

  13. Mediastinal Tuberculosis in an Adult Patient with Cystic Fibrosis▿

    PubMed Central

    Morand, Philippe C.; Burgel, Pierre-Régis; Carlotti, Agnès; Desmazes-Dufeu, Nadine; Farhi, David; Martin, Clémence; Kanaan, Reem; Mangialavori, Luigi; Palangié, Estelle; Dusser, Daniel; Poyart, Claire; Hubert, Dominique

    2011-01-01

    Tuberculosis (TB) is rarely observed in cystic fibrosis (CF) patients. We report the first case of mediastinal TB, associated with leg pain and skin rash, in an adult patient with CF, and discuss factors suggestive of TB in the course of CF. PMID:21106788

  14. THE METABOLIC EFFECTS OF PREGNANCY IN CYSTIC FIBROSIS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Our purpose was to determine glucose tolerance in pregnant women with cystic fibrosis (CF) and to relate glucose tolerance to insulin sensitivity, hepatic glucose production, and protein turnover. We studied 8 CF women during pregnancy (CFPreg). Results were compared with those from 9 pregnant contr...

  15. Multidisciplinary care in cystic fibrosis: a clinical-nutrition review.

    PubMed

    Haack, A; Carvalho Garbi Novaes, M R

    2012-01-01

    The multidisciplinary care, at different referral centers of cystic fibrosis, is aimed at monitoring and treating cystic fibrosis patients. Mortality attributed to this hereditary disease is high, since it affects the exocrine glands, involving multiple organs, and evolves in a chronic, progressive way. However, systemized care and the improved, shared understanding of gastroenterologists, nutritionists and pulmonologists, contribute to prolonged survival and abated morbimortality. The aim of this study is to describe the main aspects of clinical and nutritional intervention in cystic fibrosis patients so that monitoring by a multidisciplinary team is optimized and performed as early as possible. The review was carried out on articles indexed in the Medline, Lilacs, SciELO, Current Contents and Cochrane databases, finding 189 articles in Portuguese, English and Spanish, with emphasis on articles published between 2000 and 2011. Due to the scientific relevant contribution, some publications before 2000 were included totalized 77 related to the multidisciplinary care. The reviewed studies suggest that multidisciplinary care is essential for knowledge integration in order to impose permanent update of scientific information, thereby contributing to the development of intervention strategies that enhance survival and motivate the development of skills to cope with the complex treatment regimen that is necessary for cystic fibrosis treatment and prevention of related complications.

  16. Outcome of Multi-Cystic Dysplastic Kidneys in Children

    PubMed Central

    Mashat, Suleiman D.; El-Desoky, Sherif M.; Abdulaziz Kari, Jameela

    2015-01-01

    Background: Renal cystic diseases are important causes of chronic kidney disease (CKD). Objectives: We report the pattern of renal cystic disease in children and evaluate the outcome of children with multicystic dysplastic kidney (MCDK). Patients and Methods: Retrospective study of all children with cystic kidney diseases at King Abdulaziz University hospital from 2006 to 2014. Results: Total of 55 children (30 males); 25 MCDK, 22 polycystic kidney diseases (PKD), 4 nephronophthises and 4 renal cysts. Consanguinity was positive in 96.2%. MCDK and simple renal cyst patients had good renal function while PKD and nephronophthisis developed renal impairment. Most MCKD were diagnosed ante-natally, 16 of them were followed up for 3.4 (1.97) year. Their last creatinine was 33.9 (13.5) umol/L. MCDK was spontaneously involuted at mean age of 2.6 (1.3) years in 56%. Conclusions: MCDK is the commonest cystic renal disease and diagnosed ante-natally in the majority of cases. It has a good prognosis. PMID:26495094

  17. Pulmonary resection after lung transplantation in cystic fibrosis patients.

    PubMed

    Souilamas, Rédha; Saueressig, Mauricio; Boussaud, Véronique; Amrein, Catherine; Guillemain, Romain; Sonett, Joshua

    2011-06-01

    Pulmonary resection after lung transplantation in end-stage cystic fibrosis presents unique challenges, and scant literature exists to guide physicians. We retrospectively reviewed 78 transplants for cystic fibrosis performed between 2003 and 2008. Fourteen patients underwent posttransplantation pulmonary resection. We analyzed the indications, surgical procedures, outcomes, and survival. Three pneumonectomies, 4 lobectomies, and 11 wedge resections were carried out. We identified 2 groups based on indication: a diagnostic group, and a therapeutic group of patients in whom the indications were septic native lung in 2, allograft infection in 2, lobar torsion in 2, pulmonary infarction in 2, and size mismatch in 4. The mean intensive care unit and hospital stays were 29 and 50 days, respectively. Four (28.57%) patients died during follow-up, including 2 who underwent pneumonectomy; 10 (71.43%) are still alive. Survival was 43.43 ± 8.06 months, and it was not significantly different from that in cystic fibrosis patients who had lung transplantation without pulmonary resection. Pulmonary resection following lung transplantation in cystic fibrosis patients showed acceptable survival and surgical risk, but metachronous pneumonectomy was associated with higher mortality.

  18. New and emerging targeted therapies for cystic fibrosis.

    PubMed

    Quon, Bradley S; Rowe, Steven M

    2016-01-01

    Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70,000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development. PMID:27030675

  19. Multilobed cystic dilation of the ventriculus terminalis (CDVT).

    PubMed

    Bellocchi, Silvio; Vidale, Simone; Casiraghi, Paolo; Arnaboldi, Marco; Taborelli, Angelo

    2013-01-01

    The cystic dilation of ventriculus terminalis (CDVT) is a rare anatomical variant in adulthood. In this report we describe a new case of an adult with multilobed CDVT, causing low-back pain and subjective disturbances in walking. A myelotomy with fenestration of the cyst was performed with a good clinical and radiological outcome.

  20. Multilobed cystic dilation of the ventriculus terminalis (CDVT)

    PubMed Central

    Bellocchi, Silvio; Vidale, Simone; Casiraghi, Paolo; Arnaboldi, Marco; Taborelli, Angelo

    2013-01-01

    The cystic dilation of ventriculus terminalis (CDVT) is a rare anatomical variant in adulthood. In this report we describe a new case of an adult with multilobed CDVT, causing low-back pain and subjective disturbances in walking. A myelotomy with fenestration of the cyst was performed with a good clinical and radiological outcome. PMID:23682083

  1. Digestive system dysfunction in cystic fibrosis: challenges for nutrition therapy.

    PubMed

    Li, Li; Somerset, Shawn

    2014-10-01

    Cystic fibrosis can affect food digestion and nutrient absorption. The underlying mutation of the cystic fibrosis trans-membrane regulator gene depletes functional cystic fibrosis trans-membrane regulator on the surface of epithelial cells lining the digestive tract and associated organs, where Cl(-) secretion and subsequently secretion of water and other ions are impaired. This alters pH and dehydrates secretions that precipitate and obstruct the lumen, causing inflammation and the eventual degradation of the pancreas, liver, gallbladder and intestine. Associated conditions include exocrine pancreatic insufficiency, impaired bicarbonate and bile acid secretion and aberrant mucus formation, commonly leading to maldigestion and malabsorption, particularly of fat and fat-soluble vitamins. Pancreatic enzyme replacement therapy is used to address this insufficiency. The susceptibility of pancreatic lipase to acidic and enzymatic inactivation and decreased bile availability often impedes its efficacy. Brush border digestive enzyme activity and intestinal uptake of certain disaccharides and amino acids await clarification. Other complications that may contribute to maldigestion/malabsorption include small intestine bacterial overgrowth, enteric circular muscle dysfunction, abnormal intestinal mucus, and intestinal inflammation. However, there is some evidence that gastric digestive enzymes, colonic microflora, correction of fatty acid abnormalities using dietary n-3 polyunsaturated fatty acid supplementation and emerging intestinal biomarkers can complement nutrition management in cystic fibrosis. PMID:25053610

  2. Vocational Rehabilitation of the Person with Cystic Fibrosis.

    ERIC Educational Resources Information Center

    Isralsky, Marc; And Others

    1979-01-01

    Explored vocational development, self-concept, and vocational adjustment of persons with cystic fibrosis. The following measures of vocational development correlated with work adjustment: vocational plans, educational plans, initiative, occupational information, and average vocational development score. Vocational development did not correlate…

  3. New and emerging targeted therapies for cystic fibrosis.

    PubMed

    Quon, Bradley S; Rowe, Steven M

    2016-03-30

    Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70,000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development.

  4. The Cystic Fibrosis Database: Content and Research Opportunities.

    ERIC Educational Resources Information Center

    Shaw, William M., Jr.; And Others

    1991-01-01

    Describes the files contained in the Cystic Fibrosis (CF) database and discusses educational and research opportunities using this database. Topics discussed include queries, evaluating the relevance of items retrieved, and use of the database in an online searching course in the School of Information and Library Science at the University of North…

  5. Students as Technicians: Screening Newborns for Cystic Fibrosis

    ERIC Educational Resources Information Center

    Gusky, Sharon

    2014-01-01

    In this activity, freshman college students learn biotechnology techniques while playing the role of a laboratory technician. They perform simulations of three diagnostic tests used to screen newborns for cystic fibrosis. By performing an ELISA, a PCR analysis, and a conductivity test, students learn how biotechnology techniques can be used to…

  6. Strength and Conditioning for the Person with Cystic Fibrosis.

    ERIC Educational Resources Information Center

    Waller, Mike

    2001-01-01

    Discusses how a strength and conditioning program can be safety incorporated into the daily life of people with cystic fibrosis as a complementary therapy to medications, regular checkups, bronchial drainage, and respiratory therapy, examining physical restrictions and guidelines, exercise prescriptions, and exercise applications, and explaining…

  7. Psychological Concomitants of Cystic Fibrosis in Children and Adolescents.

    ERIC Educational Resources Information Center

    Kashani, Javad H.; And Others

    1988-01-01

    Administered several psychiatric inventories to 30 cystic fibrosis and 30 matched control children and their parents. Data analysis revealed few differences in either psychopathological symptoms or psychiatric diagnoses between groups. Differences were either physical in nature or did not depart enough from normal scores to merit label of high…

  8. [The respiratory disease of cystic fibrosis, from infancy to childhood].

    PubMed

    Hubert, D; Le Bourgeois, M

    2012-05-01

    The respiratory disease of cystic fibrosis, which is secondary to bronchial inflammation and infection, appears from the youngest age and its evolution is made of exacerbations due to acute respiratory infections. In adulthood, complications such as hemoptysis and pneumothorax are more frequent and respiratory insufficiency is more severe, conditioning prognosis. Care is mainly based on physiotherapy and adapted antibiotics. PMID:22682483

  9. Multidisciplinary care in cystic fibrosis: a clinical-nutrition review.

    PubMed

    Haack, A; Carvalho Garbi Novaes, M R

    2012-01-01

    The multidisciplinary care, at different referral centers of cystic fibrosis, is aimed at monitoring and treating cystic fibrosis patients. Mortality attributed to this hereditary disease is high, since it affects the exocrine glands, involving multiple organs, and evolves in a chronic, progressive way. However, systemized care and the improved, shared understanding of gastroenterologists, nutritionists and pulmonologists, contribute to prolonged survival and abated morbimortality. The aim of this study is to describe the main aspects of clinical and nutritional intervention in cystic fibrosis patients so that monitoring by a multidisciplinary team is optimized and performed as early as possible. The review was carried out on articles indexed in the Medline, Lilacs, SciELO, Current Contents and Cochrane databases, finding 189 articles in Portuguese, English and Spanish, with emphasis on articles published between 2000 and 2011. Due to the scientific relevant contribution, some publications before 2000 were included totalized 77 related to the multidisciplinary care. The reviewed studies suggest that multidisciplinary care is essential for knowledge integration in order to impose permanent update of scientific information, thereby contributing to the development of intervention strategies that enhance survival and motivate the development of skills to cope with the complex treatment regimen that is necessary for cystic fibrosis treatment and prevention of related complications. PMID:22732957

  10. New and emerging targeted therapies for cystic fibrosis

    PubMed Central

    Rowe, Steven M

    2016-01-01

    Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70 000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development. PMID:27030675

  11. Pathologic review of cystic and cavitary lung diseases.

    PubMed

    Kim, Na Rae; Han, Joungho

    2012-10-01

    Pulmonary cystic and cavitary lesions caused by diverse etiologies are commonly encountered in chest imaging. The terms "cyst" and "cavity" are used to describe air-filled regions in the center of a nodule or consolidation of the lung. To date, only radiologic aspects of these lesions have been addressed. The morphologies of pulmonary cystic and cavitary lesions exhibit a broad spectrum, ranging from benign to malignant pulmonary diseases of acquired or congenital origin, including variable infectious diseases. In this review, we summarized the differential diagnosis of pathological entities to provide pathologists and radiologists with an overview of the diseases most commonly associated with pulmonary cystic and cavitary lesions in adults and children. The results showed slightly different patterns in the distribution of the diseases in the two groups. The most common causes of cavitary lesions include malignancy and infection in adults, and congenital malformation in children. Therefore, identification of pathologic entities correlating with the radiologic findings, clinical course, and location of the lesion is important in the evaluation of cystic and cavitary lung lesions in order to avoid unnecessary surgical procedures or delayed treatment. PMID:23136566

  12. Cepacia Syndrome in a Non-Cystic Fibrosis Patient.

    PubMed

    Hauser, Naomi; Orsini, Jose

    2015-01-01

    Burkholderia (formerly Pseudomonas) cepacia complex is a known serious threat to patients with cystic fibrosis, in whom it has the potential to cause the fatal combination of necrotizing pneumonia, worsening respiratory failure, and bacteremia, known as Cepacia syndrome. The potential for this pathogen to infect non-cystic fibrosis patients is limited and its epidemiology is poorly understood. Previously reported cases of severe Burkholderia cepacia complex lung infection in immunocompetent hosts include pneumonia, bronchiectasis, pyopneumothorax, and cavitary lesions. We present a case of a 64-year-old man with Streptococcus pneumoniae community-acquired pneumonia whose hospital course was complicated by developing cavitary lung lesions, bacteremia, and acute respiratory distress syndrome. Repeated tracheal aspirate and blood cultures grew Burkholderia cepacia. Our case appears to be the first report of Cepacia syndrome in a patient without cystic fibrosis. This report raises concern regarding the potential severity of pulmonary Burkholderia cepacia complex infection and the need to broaden clinicians' suspicion for Cepacia syndrome. A framework to help diagnose and treat infected non-cystic fibrosis individuals may be useful. PMID:26357579

  13. Cystic mucinous adenocarcinoma of the lung: a case report

    PubMed Central

    2011-01-01

    Mucinous cystic tumors of the lung are uncommon, the preoperative pathologic diagnosis is difficult and their biological behavior is still controversial. We report the case of a patient with a clinically benign cystic lesion that post-operatively showed to be consistent with an invasive adenocarcinoma arising in a mucinous cystadenoma of the lung, We underline the difficulty of the clinical pre-operative diagnosis of this cystic neoplasia radiologically mimicking a hydatid cyst, and we report the negative TTF1 immunostaining potentially misleading in the differential diagnosis with metastatic mucinous carcinomas. Finallly, we evidence the presence of a pre-existing mucinous benign lesion suggesting early and complete resection of benign appearing lung cysts because they can undergo malignant transformation if left untreated or they can already harbor foci of invasive carcinoma at the time of the presentation. Even if a good prognosis, better than in other lung carcinomas, with no recurrrence or metastasis after complete surgical exicision, has been reported for cystic mucinous cystoadenocarcinomas, the follow-up showed an aggressive biological behaviour, with the early onset of metastasis, in keeping with P53 positive immunostaining and high Ki-67 proliferation index. PMID:21970610

  14. Predictive 5-Year Survivorship Model of Cystic Fibrosis

    PubMed Central

    Liou, Theodore G.; Adler, Frederick R.; FitzSimmons, Stacey C.; Cahill, Barbara C.; Hibbs, Jonathan R.; Marshall, Bruce C.

    2007-01-01

    The objective of this study was to create a 5-year survivorship model to identify key clinical features of cystic fibrosis. Such a model could help researchers and clinicians to evaluate therapies, improve the design of prospective studies, monitor practice patterns, counsel individual patients, and determine the best candidates for lung transplantation. The authors used information from the Cystic Fibrosis Foundation Patient Registry (CFFPR), which has collected longitudinal data on approximately 90% of cystic fibrosis patients diagnosed in the United States since 1986. They developed multivariate logistic regression models by using data on 5,820 patients randomly selected from 11,630 in the CFFPR in 1993. Models were tested for goodness of fit and were validated for the remaining 5,810 patients for 1993. The validated 5-year survivorship model included age, forced expiratory volume in 1 second as a percentage of predicted normal, gender, weight-for-age z score, pancreatic sufficiency, diabetes mellitus, Staphylococcus aureus infection, Burkerholderia cepacia infection, and annual number of acute pulmonary exacerbations. The model provides insights into the complex nature of cystic fibrosis and supplies a rigorous tool for clinical practice and research. PMID:11207152

  15. Microbiology of airway disease in patients with cystic fibrosis.

    PubMed Central

    Gilligan, P H

    1991-01-01

    Individuals with cystic fibrosis have abbreviated life spans primarily due to chronic airway infection. A limited number of types of organisms are responsible for these infections, with Staphylococcus aureus and Pseudomonas aeruginosa being of primary importance. In the pre-antibiotic era, greater than 90% of deaths due to infection were caused by S. aureus and death usually occurred in the first 2 years of life. With the advent of effective antistaphylococcal therapy, life spans increased and P. aeruginosa became the pathogen of primary importance. P. aeruginosa isolates recovered from patients with cystic fibrosis have a unique phenotypic characteristic referred to as "mucoid." The mucoid phenotype is due to the production of a mucoid exopolysaccharide. A mucoid exopolysaccharide is believed to play a central role in the establishment of chronic pseudomonal lung infection in these patients. A third organism, Pseudomonas cepacia, has recently been detected in the airways of older patients with cystic fibrosis and is associated with increased mortality. The virulence of P. cepacia is not understood, but the organism is extremely refractory to antimicrobial therapy. Other bacteria, including Haemophilus influenzae and members of the family Enterobacteriaceae, appear to play a secondary role in airway infection. Aspergillus fumigatus is the most important fungal agent causing allergic bronchopulmonary disease. The role of viruses has only recently been examined. At least in some patients with cystic fibrosis, respiratory syncytial virus may be important in predisposing to subsequent bacterial infections. PMID:1900735

  16. Improved sweat test method for the diagnosis of cystic fibrosis.

    PubMed Central

    Carter, E P; Barrett, A D; Heeley, A F; Kuzemko, J A

    1984-01-01

    We describe a new technique of collecting sweat for measurement of osmolality and sodium concentrations. Eighty two subjects were studied--39 controls and 43 patients with cystic fibrosis. Adequate amounts of sweat were obtained in 81 subjects and sweat was analysed for both osmolality and sodium concentrations in 73 subjects. The 34 controls gave sweat osmolality and sodium values ranging from 62 to 196 mmol/kg and 9 to 72 mmol/l respectively. The 39 cystic fibrosis patients gave osmolality values ranging from 220 to 416 mmol/kg and sodium concentrations ranging from 60 to 150 mmol/l. Sweat osmolality alone was determined in eight infants under 50 days of age--four later developed the clinical features of cystic fibrosis and four, in whom cystic fibrosis was suspected, were later excluded. Sweat osmolality values in these two groups ranged from 255 to 345 mmol/kg and 87 to 123 mmol/kg respectively. The simplicity of collecting sweat and the measurement of osmolality offer distinct advantages over techniques previously described. PMID:6497428

  17. Pulmonary resection after lung transplantation in cystic fibrosis patients.

    PubMed

    Souilamas, Rédha; Saueressig, Mauricio; Boussaud, Véronique; Amrein, Catherine; Guillemain, Romain; Sonett, Joshua

    2011-06-01

    Pulmonary resection after lung transplantation in end-stage cystic fibrosis presents unique challenges, and scant literature exists to guide physicians. We retrospectively reviewed 78 transplants for cystic fibrosis performed between 2003 and 2008. Fourteen patients underwent posttransplantation pulmonary resection. We analyzed the indications, surgical procedures, outcomes, and survival. Three pneumonectomies, 4 lobectomies, and 11 wedge resections were carried out. We identified 2 groups based on indication: a diagnostic group, and a therapeutic group of patients in whom the indications were septic native lung in 2, allograft infection in 2, lobar torsion in 2, pulmonary infarction in 2, and size mismatch in 4. The mean intensive care unit and hospital stays were 29 and 50 days, respectively. Four (28.57%) patients died during follow-up, including 2 who underwent pneumonectomy; 10 (71.43%) are still alive. Survival was 43.43 ± 8.06 months, and it was not significantly different from that in cystic fibrosis patients who had lung transplantation without pulmonary resection. Pulmonary resection following lung transplantation in cystic fibrosis patients showed acceptable survival and surgical risk, but metachronous pneumonectomy was associated with higher mortality. PMID:21885542

  18. Invasive cystic hypersecretory carcinoma of the breast: a case report

    PubMed Central

    Liu, Juan; Yang, Wenjun; Wu, Xiangyan; Hu, Xiangrong

    2015-01-01

    Purpose: To report a new case of invasive cystic hypersecretory carcinoma. The clinical and pathological characteristics of the lesion and a review of the literature are both described. Methods: A descriptive study of a case of invasive CHC occurring in a 60-yr-old woman is presented. Tumor was standard processed and stained by hematoxylin & eosin, PAS, immunohistochemically examined for ER, PR, C-erbB-2, CEA, thyroglobulin, E-cadherin, S-100 protein, and Cytokeratin5/6. Results: The tumor, which was 4.7×3.7×3.0 cm, was localized in the upper region of the left breast. This tumor revealed multiple cystic spaces, which were filled with PAS. It was positive for CEA, ER, E-cadherin, and S-100 protein, but negative for thyroglobulin, PR, and C-erbB-2. Cytokeratin5/6 was expressed in the cystic hypersecretory hyperplasia region, but not in the invasive area. The ten-month follow-up period was uneventful. Conclusions: Cystic hypersecretory carcinoma of the breast is a rare and distinctive variant of ductal carcinoma in situ. It has the potential for invasive growth. As there are few recorded cases, the prognosis in patients with invasive CHC is still uncertain and a matter of intensive debate. PMID:26261660

  19. Digestive system dysfunction in cystic fibrosis: challenges for nutrition therapy.

    PubMed

    Li, Li; Somerset, Shawn

    2014-10-01

    Cystic fibrosis can affect food digestion and nutrient absorption. The underlying mutation of the cystic fibrosis trans-membrane regulator gene depletes functional cystic fibrosis trans-membrane regulator on the surface of epithelial cells lining the digestive tract and associated organs, where Cl(-) secretion and subsequently secretion of water and other ions are impaired. This alters pH and dehydrates secretions that precipitate and obstruct the lumen, causing inflammation and the eventual degradation of the pancreas, liver, gallbladder and intestine. Associated conditions include exocrine pancreatic insufficiency, impaired bicarbonate and bile acid secretion and aberrant mucus formation, commonly leading to maldigestion and malabsorption, particularly of fat and fat-soluble vitamins. Pancreatic enzyme replacement therapy is used to address this insufficiency. The susceptibility of pancreatic lipase to acidic and enzymatic inactivation and decreased bile availability often impedes its efficacy. Brush border digestive enzyme activity and intestinal uptake of certain disaccharides and amino acids await clarification. Other complications that may contribute to maldigestion/malabsorption include small intestine bacterial overgrowth, enteric circular muscle dysfunction, abnormal intestinal mucus, and intestinal inflammation. However, there is some evidence that gastric digestive enzymes, colonic microflora, correction of fatty acid abnormalities using dietary n-3 polyunsaturated fatty acid supplementation and emerging intestinal biomarkers can complement nutrition management in cystic fibrosis.

  20. miR-17 overexpression in cystic fibrosis airway epithelial cells decreases interleukin-8 production.

    PubMed

    Oglesby, Irene K; Vencken, Sebastian F; Agrawal, Raman; Gaughan, Kevin; Molloy, Kevin; Higgins, Gerard; McNally, Paul; McElvaney, Noel G; Mall, Marcus A; Greene, Catherine M

    2015-11-01

    Interleukin (IL)-8 levels are higher than normal in cystic fibrosis (CF) airways, causing neutrophil infiltration and non-resolving inflammation. Overexpression of microRNAs that target IL-8 expression in airway epithelial cells may represent a therapeutic strategy for cystic fibrosis. IL-8 protein and mRNA were measured in cystic fibrosis and non-cystic fibrosis bronchoalveolar lavage fluid and bronchial brushings (n=20 per group). miRNAs decreased in the cystic fibrosis lung and predicted to target IL-8 mRNA were quantified in βENaC-transgenic, cystic fibrosis transmembrane conductance regulator (Cftr)-/- and wild-type mice, primary cystic fibrosis and non-cystic fibrosis bronchial epithelial cells and a range of cystic fibrosis versus non-cystic fibrosis airway epithelial cell lines or cells stimulated with lipopolysaccharide, Pseudomonas-conditioned medium or cystic fibrosis bronchoalveolar lavage fluid. The effect of miRNA overexpression on IL-8 protein production was measured. miR-17 regulates IL-8 and its expression was decreased in adult cystic fibrosis bronchial brushings, βENaC-transgenic mice and bronchial epithelial cells chronically stimulated with Pseudomonas-conditioned medium. Overexpression of miR-17 inhibited basal and agonist-induced IL-8 protein production in F508del-CFTR homozygous CFTE29o(-) tracheal, CFBE41o(-) and/or IB3 bronchial epithelial cells. These results implicate defective CFTR, inflammation, neutrophilia and mucus overproduction in regulation of miR-17. Modulating miR-17 expression in cystic fibrosis bronchial epithelial cells may be a novel anti-inflammatory strategy for cystic fibrosis and other chronic inflammatory airway diseases.

  1. Antenatal testing for cystic fibrosis in Cuba, 1988-2011.

    PubMed

    Collazo, Teresa; López, Ixchel; Clark, Yulia; Piloto, Yaixa; González, Laura; Gómez, Manuel; García, Marileivis; Reyes, Lidice; Rodríguez, Fidel

    2014-01-01

    INTRODUCTION Cystic fibrosis is a multisystem autosomal recessive disease with wide variability in clinical severity. It is incurable and characterized by elevated and premature mortality, as well as poor quality of life. Its frequency, lethality and devastating impact on both the physical and psychological wellbeing of patients and their families, make it a serious health problem. Its frequency in Cuba is 1 in 9862 live births, where marked molecular heterogeneity of the CFTR gene makes molecular diagnosis difficult. Six mutations have been identified that together enable molecular characterization of only 55.5% of cystic fibrosis chromosomes. This paper presents national results of antenatal diagnostic testing, using direct and indirect methods, for detection of cystic fibrosis. OBJECTIVE Characterize the Cuban public health system's experience with antenatal molecular testing for cystic fibrosis from 1988 through 2011. METHODS A retrospective descriptive study was conducted with results of antenatal diagnostic testing of amniotic fluid, performed nationwide from 1988 through 2011, for 108 fetuses of couples with some risk of having children affected by cystic fibrosis, who requested testing. Polymerase chain reaction detected mutations p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X and c.3120+1G>A, and markers XV2C and KM19. Data were analyzed using absolute frequencies and percentages, and presented in tables. RESULTS For 93 cases (86.1%), testing for cystic fibrosis was done using direct analysis of mutations p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X and c.3120+1G>A; five cases (4.6%) were tested indirectly using markers XV2C/Taq I and KM19/Pst I; and 10 (9.3%) were tested using a combination of the two methods. A total of 72 diagnoses (66.7% of studies done) were concluded, of which there were 20 healthy fetuses, 16 affected, 27 carrier, and 9 who were either healthy or carriers of an unknown mutation. CONCLUSIONS Direct or indirect molecular study was

  2. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis

    PubMed Central

    Olivier, Kenneth N; Saiman, Lisa; Daley, Charles L; Herrmann, Jean-Louis; Nick, Jerry A; Noone, Peadar G; Bilton, Diana; Corris, Paul; Gibson, Ronald L; Hempstead, Sarah E; Koetz, Karsten; Sabadosa, Kathryn A; Sermet-Gaudelus, Isabelle; Smyth, Alan R; van Ingen, Jakko; Wallace, Richard J; Winthrop, Kevin L; Marshall, Bruce C; Haworth, Charles S

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease such as cystic fibrosis (CF). Pulmonary disease caused by NTM has emerged as a major threat to the health of individuals with CF but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) convened an expert panel of specialists to develop consensus recommendations for the screening, investigation, diagnosis and management of NTM pulmonary disease in individuals with CF. Nineteen experts were invited to participate in the recommendation development process. Population, Intervention, Comparison, Outcome (PICO) methodology and systematic literature reviews were employed to inform draft recommendations. An anonymous voting process was used by the committee to reach consensus. All committee members were asked to rate each statement on a scale of: 0, completely disagree, to 9, completely agree; with 80% or more of scores between 7 and 9 being considered ‘good’ agreement. Additionally, the committee solicited feedback from the CF communities in the USA and Europe and considered the feedback in the development of the final recommendation statements. Three rounds of voting were conducted to achieve 80% consensus for each recommendation statement. Through this process, we have generated a series of pragmatic, evidence-based recommendations for the screening, investigation, diagnosis and treatment of NTM infection in individuals with CF as an initial step in optimising management for this challenging condition. PMID:26666259

  3. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis.

    PubMed

    Floto, R Andres; Olivier, Kenneth N; Saiman, Lisa; Daley, Charles L; Herrmann, Jean-Louis; Nick, Jerry A; Noone, Peadar G; Bilton, Diana; Corris, Paul; Gibson, Ronald L; Hempstead, Sarah E; Koetz, Karsten; Sabadosa, Kathryn A; Sermet-Gaudelus, Isabelle; Smyth, Alan R; van Ingen, Jakko; Wallace, Richard J; Winthrop, Kevin L; Marshall, Bruce C; Haworth, Charles S

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease such as cystic fibrosis (CF). Pulmonary disease caused by NTM has emerged as a major threat to the health of individuals with CF but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) convened an expert panel of specialists to develop consensus recommendations for the screening, investigation, diagnosis and management of NTM pulmonary disease in individuals with CF. Nineteen experts were invited to participate in the recommendation development process. Population, Intervention, Comparison, Outcome (PICO) methodology and systematic literature reviews were employed to inform draft recommendations. An anonymous voting process was used by the committee to reach consensus. All committee members were asked to rate each statement on a scale of: 0, completely disagree, to 9, completely agree; with 80% or more of scores between 7 and 9 being considered 'good' agreement. Additionally, the committee solicited feedback from the CF communities in the USA and Europe and considered the feedback in the development of the final recommendation statements. Three rounds of voting were conducted to achieve 80% consensus for each recommendation statement. Through this process, we have generated a series of pragmatic, evidence-based recommendations for the screening, investigation, diagnosis and treatment of NTM infection in individuals with CF as an initial step in optimising management for this challenging condition.

  4. NCAI Resolutions

    ERIC Educational Resources Information Center

    American Indian Journal of the Institute for the Development of Indian Law, 1977

    1977-01-01

    Five Major Policy Resolutions were adopted, without objection, at the 33rd Annual Convention of the National Congress of American Indians (NCAI) held in Salt Lake City, Utah, in October 1976. The issues involved were: Treaties and Trust Responsibilities, Tribal Government, Jurisdiction, Federal Administration and Structure of Indian Affairs, and…

  5. Molecular Characterization of Achromobacter Isolates from Cystic Fibrosis and Non-Cystic Fibrosis Patients in Madrid, Spain

    PubMed Central

    Barrado, Laura; Brañas, Patricia; Orellana, M. Ángeles; Martínez, M. Teresa; García, Gloria; Otero, Joaquín R.

    2013-01-01

    Multilocus sequence typing and nrdA sequence analysis identified 6 different species or genogroups and 13 sequence types (STs) among 15 Achromobacter isolates from cystic fibrosis (CF) patients and 7 species or genogroups and 11 STs among 11 isolates from non-CF patients. Achromobacter xylosoxidans was the most frequently isolated species among CF patients. PMID:23536401

  6. Cystic fibrosis transmembrane conductance regulator (CFTR) activity in nasal epithelial cells from cystic fibrosis patients with severe genotypes.

    PubMed

    Andersson, C; Dragomir, A; Hjelte, L; Roomans, G M

    2002-10-01

    Cystic fibrosis is a heterogenic disease, in which the phenotype can also vary for patients with the same genotype. In the present study the function of the cystic fibrosis transmembrane conductance regulator (CFTR) in nasal epithelial cells from 19 adult patients with cystic fibrosis was investigated. All patients had severe mutations, whereby no or little functional CFTR is expected in the plasma membrane. Of the patients, 15 were homozygous for deltaF508-CFTR (i.e. CTFR lacking residue Phe-508). The others were deltaF508-heterozygous with 3659delC, 394delTT or 2183AA-->G. Nasal epithelial cells, obtained by nasal brushings, were loaded with the fluorescent probe N -(ethoxycarbonylmethyl)-6-methoxyquinolinium bromide to measure Cl(-) efflux. In most of the cystic fibrosis patients, forskolin plus isobutylmethylxanthine was unable to elicit any response. Unexpectedly, cells from three cystic fibrosis patients (two deltaF508/deltaF508 patients and one deltaF508/3659delC patient) responded to stimulation in a wild-type manner. It was investigated whether this residual chloride transport function was associated with a milder phenotype. Clinical parameters studied were lung function, number of antibiotic courses, Shwachman score, Bhalla score, age at chronic colonization with Pseudomonas aeruginosa and the pattern of essential fatty acids in serum phospholipids. Unknown factors may affect the presence of functional CFTR in patients with severe CFTR mutations. However, we could not find a correlation between the response to cAMP and any of the phenotype parameters. It appears that functional cAMP transport in the nasal epithelium is no guarantee of a mild phenotype and, conversely, that a patient lacking cAMP-dependent chloride transport can develop a mild phenotype.

  7. Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives

    PubMed Central

    Schmidt, Béla Z; Haaf, Jérémy B; Leal, Teresinha; Noel, Sabrina

    2016-01-01

    Mutations of the CFTR gene cause cystic fibrosis (CF), the most common recessive monogenic disease worldwide. These mutations alter the synthesis, processing, function, or half-life of CFTR, the main chloride channel expressed in the apical membrane of epithelial cells in the airway, intestine, pancreas, and reproductive tract. Lung disease is the most critical manifestation of CF. It is characterized by airway obstruction, infection, and inflammation that lead to fatal tissue destruction. In spite of great advances in early and multidisciplinary medical care, and in our understanding of the pathophysiology, CF is still considerably reducing the life expectancy of patients. This review highlights the current development in pharmacological modulators of CFTR, which aim at rescuing the expression and/or function of mutated CFTR. While only Kalydeco® and Orkambi® are currently available to patients, many other families of CFTR modulators are undergoing preclinical and clinical investigations. Drug repositioning and personalized medicine are particularly detailed in this review as they represent the most promising strategies for restoring CFTR function in CF. PMID:27703398

  8. Airway clearance strategies in cystic fibrosis and non-cystic fibrosis bronchiectasis.

    PubMed

    Main, Eleanor; Grillo, Lizzie; Rand, Sarah

    2015-04-01

    Many patients with cystic fibrosis (CF) and non-CF bronchiectasis present with common symptoms in clinical domains that appear to benefit from airway clearance strategies. These symptoms include chronic productive cough, retention of excessive, purulent mucus in dilated airways, impairment of normal mucociliary clearance (MCC), atelectasis, breathlessness, fatigue, respiratory inflammation, fever, infection, and airflow obstruction. Airway clearance strategies may involve singular and focused interventions for the purpose of removing secretions and improving lung recruitment and gas exchange in patients with atelectasis. Strategies may also involve indirect or adjunctive interventions that facilitate or enhance effective airway clearance at different ages or stages of the disease process, for example, inhalation therapy, exercise, oxygen therapy, or noninvasive ventilation. The aim is to optimize care by selecting any one or combination of these in responding intelligently and sensitively to individual and changing patient requirements during their lifetime. Currently, a solid evidence base does not exist for airway clearance strategies in CF and non-CF bronchiectasis, and much of airway clearance clinical practice remains in the domain of clinical expertise. The paucity of evidence is partly explained by the relatively immature research machinery in allied health care internationally but is also partly to do with inadequate or inappropriate research designs. This article aims to provide an overview of the nature of, and physiological basis for, the direct and indirect airway clearance strategies in CF and non-CF bronchiectasis with reference to the best available evidence. PMID:25826592

  9. Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator

    PubMed Central

    Collawn, James F; Fu, Lianwu; Bebok, Zsuzsa

    2010-01-01

    Proteomic analysis has proved to be an important tool for understanding the complex nature of genetic disorders, such as cystic fibrosis (CF), by defining the cellular protein environment (proteome) associated with wild-type and mutant proteins. Proteomic screens identified the proteome of CF transmembrane conductance regulator (CFTR), and provided fundamental information to studies designed for understanding the crucial components of physiological CFTR function. Simultaneously, high-throughput screens for small-molecular correctors of CFTR mutants provided promising candidates for therapy. The majority of CF cases are caused by nucleotide deletions (ΔF508 CFTR; >75%), resulting in CFTR misfolding, or insertion of premature termination codons (~10%), leading to unstable mRNA and reduced levels of truncated dysfunctional CFTR. In this article, we review recent results of proteomic screens, developments in identifying correctors for the most frequent CFTR mutants, and comment on how integration of the knowledge gained from these studies may aid in finding a cure for CF and a number of other genetic disorders. PMID:20653506

  10. Cystic echinococcosis in the Arctic and Sub-Arctic.

    PubMed

    Rausch, R L

    2003-01-01

    The northern biotype of Echinococcus granulosus occurs throughout the holarctic zones of tundra and taiga, from eastern Fennoscandia to the Bering Strait in Eurasia and in North America from arctic Alaska approximately to the northern border of the United States. The cycle of the cestode is complex in taiga at lower latitudes, because of the greater diversity of potential hosts. In the Arctic and Subarctic, however, four patterns of predator/prey relationships may be discerned. Two natural cycles involve the wolf and wild reindeer and the wolf and elk (moose), respectively. Where deer of the two species coexist, both are prey of the wolf; the interactions of the wolf and elk are here described on the basis of long-term observations made on Isle Royale (in Lake Superior near the southern limit of taiga), where only the wolf and elk serve as hosts for E. granulosus. A synanthropic cycle involving herding-dogs and domesticated reindeer caused hyperendemicity of cystic echinococcosis in arctic Eurasia, mainly in northeastern Siberia. The 4th pattern, a semi-synanthropic cycle, formerly existed in Alaska, wherein sled-dogs of the indigenous hunters became infected by consuming the lungs of wild reindeer. The sequence of changes in life-style inherent in the process of acculturation affected the occurrence of cystic echinococcosis among nomadic Iñupiat in arctic Alaska. When those people became sedentary, the environs of their early villages soon became severely contaminated by faeces of dogs, and cases of cystic echinococcosis occurred. Compared to cystic echinococcosis caused by E. granulosus adapted to synanthropic hosts (dog and domestic ungulates), the infection produced by the northern biotype is relatively benign. Nearly all diagnosed cases of cystic echinococcosis (> 300) in Alaska have occurred in indigenous people; only one fatality has been recorded (in a non-indigenous person). After sled-dogs were replaced by machines, cases have become rare in Alaska. A

  11. Cystic echinococcosis in the Arctic and Sub-Arctic.

    PubMed

    Rausch, R L

    2003-01-01

    The northern biotype of Echinococcus granulosus occurs throughout the holarctic zones of tundra and taiga, from eastern Fennoscandia to the Bering Strait in Eurasia and in North America from arctic Alaska approximately to the northern border of the United States. The cycle of the cestode is complex in taiga at lower latitudes, because of the greater diversity of potential hosts. In the Arctic and Subarctic, however, four patterns of predator/prey relationships may be discerned. Two natural cycles involve the wolf and wild reindeer and the wolf and elk (moose), respectively. Where deer of the two species coexist, both are prey of the wolf; the interactions of the wolf and elk are here described on the basis of long-term observations made on Isle Royale (in Lake Superior near the southern limit of taiga), where only the wolf and elk serve as hosts for E. granulosus. A synanthropic cycle involving herding-dogs and domesticated reindeer caused hyperendemicity of cystic echinococcosis in arctic Eurasia, mainly in northeastern Siberia. The 4th pattern, a semi-synanthropic cycle, formerly existed in Alaska, wherein sled-dogs of the indigenous hunters became infected by consuming the lungs of wild reindeer. The sequence of changes in life-style inherent in the process of acculturation affected the occurrence of cystic echinococcosis among nomadic Iñupiat in arctic Alaska. When those people became sedentary, the environs of their early villages soon became severely contaminated by faeces of dogs, and cases of cystic echinococcosis occurred. Compared to cystic echinococcosis caused by E. granulosus adapted to synanthropic hosts (dog and domestic ungulates), the infection produced by the northern biotype is relatively benign. Nearly all diagnosed cases of cystic echinococcosis (> 300) in Alaska have occurred in indigenous people; only one fatality has been recorded (in a non-indigenous person). After sled-dogs were replaced by machines, cases have become rare in Alaska. A

  12. Continuing Appropriations Resolution, 2012

    THOMAS, 112th Congress

    Rep. Rogers, Harold [R-KY-5

    2011-09-14

    09/15/2011 Rules Committee Resolution H. Res. 399 Reported to House. Rule provides for consideration of H.J. Res. 79 with 1 hour of general debate. Previous question shall be considered as ordered without intervening motions except motion to recommit with or without instructions... (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

  13. Generalized Myoclonus

    PubMed Central

    McCullough, Louise D.

    2015-01-01

    Movement disorders have been reported as rare complications of stroke. The basal ganglia have been implicated in the pathophysiology of most post-stroke dyskinesias. We outline different types of post-stroke myoclonus and their possible pathophysiology. A middle-aged man developed generalized myoclonus after an ischemic stroke in the superior midbrain and subthalamic nuclei. Spontaneous resolution was seen by 72 hours. A lesion to the subthalamic nuclei disrupted the normal thalamic inhibition, which likely led to the involuntary movements seen in our patient. In this case, myoclonus was generalized, which, to the best of our knowledge, has not been reported in the literature as a direct consequence of focal stroke. PMID:25553226

  14. Is Gastroparesis Found More Frequently in Patients with Cystic Fibrosis? A Systematic Review

    PubMed Central

    Corral, Juan E.; Dye, Corey W.; Mascarenhas, Maria R.; Barkin, Jamie S.; Salathe, Matthias; Moshiree, Baharak

    2016-01-01

    Cystic fibrosis (CF) is associated with different gastrointestinal motility disturbances and syndromes. We aim to assess gastric emptying in patients with CF compared to healthy controls by a systematic review of existing literature. Medical databases and abstracts from major gastroenterology and CF meetings were reviewed. Emptying times in CF patients were compared with healthy controls using random effects models. Subgroup analysis stratified results by age and diagnostic modality. Nineteen studies from 7 countries included 574 subjects (359 CF patients and 215 controls). Using pooled analysis frequency of gastroparesis was high (38%, 95% CI 30–45%) but results were highly dependent on the diagnostic modality. Delayed gastric emptying is more common in CF compared to general population. Scintigraphy identified rapid gastric emptying in a subgroup of CF patients, but this finding disappeared with adequate pancreatic enzyme replacement and after other diagnostic modalities were included. PMID:27313953

  15. Evolving serodiagnostics by rationally designed peptide arrays: the Burkholderia paradigm in Cystic Fibrosis

    PubMed Central

    Peri, Claudio; Gori, Alessandro; Gagni, Paola; Sola, Laura; Girelli, Daniela; Sottotetti, Samantha; Cariani, Lisa; Chiari, Marcella; Cretich, Marina; Colombo, Giorgio

    2016-01-01

    Efficient diagnosis of emerging and novel bacterial infections is fundamental to guide decisions on therapeutic treatments. Here, we engineered a novel rational strategy to design peptide microarray platforms, which combines structural and genomic analyses to predict the binding interfaces between diverse protein antigens and antibodies against Burkholderia cepacia complex infections present in the sera of Cystic Fibrosis (CF) patients. The predicted binding interfaces on the antigens are synthesized in the form of isolated peptides and chemically optimized for controlled orientation on the surface. Our platform displays multiple Burkholderia-related epitopes and is shown to diagnose infected individuals even in presence of superinfections caused by other prevalent CF pathogens, with limited cost and time requirements. Moreover, our data point out that the specific patterns determined by combined probe responses might provide a characterization of Burkholderia infections even at the subtype level (genomovars). The method is general and immediately applicable to other bacteria. PMID:27615705

  16. Evolving serodiagnostics by rationally designed peptide arrays: the Burkholderia paradigm in Cystic Fibrosis

    NASA Astrophysics Data System (ADS)

    Peri, Claudio; Gori, Alessandro; Gagni, Paola; Sola, Laura; Girelli, Daniela; Sottotetti, Samantha; Cariani, Lisa; Chiari, Marcella; Cretich, Marina; Colombo, Giorgio

    2016-09-01

    Efficient diagnosis of emerging and novel bacterial infections is fundamental to guide decisions on therapeutic treatments. Here, we engineered a novel rational strategy to design peptide microarray platforms, which combines structural and genomic analyses to predict the binding interfaces between diverse protein antigens and antibodies against Burkholderia cepacia complex infections present in the sera of Cystic Fibrosis (CF) patients. The predicted binding interfaces on the antigens are synthesized in the form of isolated peptides and chemically optimized for controlled orientation on the surface. Our platform displays multiple Burkholderia-related epitopes and is shown to diagnose infected individuals even in presence of superinfections caused by other prevalent CF pathogens, with limited cost and time requirements. Moreover, our data point out that the specific patterns determined by combined probe responses might provide a characterization of Burkholderia infections even at the subtype level (genomovars). The method is general and immediately applicable to other bacteria.

  17. Statement of The American Society of Human Genetics on cystic fibrosis carrier screening

    SciTech Connect

    Not Available

    1992-12-01

    The identification in 1989 of the cystic fibrosis (CF) gene and its most common mutation immediately raised the possibility of CF carrier detection by DNA analysis. The American Society of Human Genetics (ASHG) issued a statement recommending that CF carrier testing should be made available to individuals with a family history of CF. It was also stated that screening of individuals or couples in the general population should not be offered until the rate of CF carrier detection improves. An additional prerequisite emphasized the need for the establishment of effective educational and counseling programs consistent with previous widely accepted principles. An NIH workshop reached similar conclusions. ASHG recommendations are that screening be limited to individuals with a family history of CF, testing should be accompanied by education and counseling, screening should be voluntary and confidential with appropriate laboratory quality controls, and efforts should be expanded to educate health care providers and the public.

  18. The Role of Serine Proteases and Antiproteases in the Cystic Fibrosis Lung.

    PubMed

    Twigg, Matthew S; Brockbank, Simon; Lowry, Philip; FitzGerald, S Peter; Taggart, Clifford; Weldon, Sinéad

    2015-01-01

    Cystic fibrosis (CF) lung disease is an inherited condition with an incidence rate of approximately 1 in 2500 new born babies. CF is characterized as chronic infection of the lung which leads to inflammation of the airway. Sputum from CF patients contains elevated levels of neutrophils and subsequently elevated levels of neutrophil serine proteases. In a healthy individual these proteases aid in the phagocytic process by degrading microbial peptides and are kept in homeostatic balance by cognate antiproteases. Due to the heavy neutrophil burden associated with CF the high concentration of neutrophil derived proteases overwhelms cognate antiproteases. The general effects of this protease/antiprotease imbalance are impaired mucus clearance, increased and self-perpetuating inflammation, and impaired immune responses and tissue. To restore this balance antiproteases have been suggested as potential therapeutics or therapeutic targets. As such a number of both endogenous and synthetic antiproteases have been trialed with mixed success as therapeutics for CF lung disease. PMID:26185359

  19. Evolving serodiagnostics by rationally designed peptide arrays: the Burkholderia paradigm in Cystic Fibrosis.

    PubMed

    Peri, Claudio; Gori, Alessandro; Gagni, Paola; Sola, Laura; Girelli, Daniela; Sottotetti, Samantha; Cariani, Lisa; Chiari, Marcella; Cretich, Marina; Colombo, Giorgio

    2016-01-01

    Efficient diagnosis of emerging and novel bacterial infections is fundamental to guide decisions on therapeutic treatments. Here, we engineered a novel rational strategy to design peptide microarray platforms, which combines structural and genomic analyses to predict the binding interfaces between diverse protein antigens and antibodies against Burkholderia cepacia complex infections present in the sera of Cystic Fibrosis (CF) patients. The predicted binding interfaces on the antigens are synthesized in the form of isolated peptides and chemically optimized for controlled orientation on the surface. Our platform displays multiple Burkholderia-related epitopes and is shown to diagnose infected individuals even in presence of superinfections caused by other prevalent CF pathogens, with limited cost and time requirements. Moreover, our data point out that the specific patterns determined by combined probe responses might provide a characterization of Burkholderia infections even at the subtype level (genomovars). The method is general and immediately applicable to other bacteria. PMID:27615705

  20. Metastatic Bladder Cancer Presenting with Persistent Hematuria in Young Man with Cystic Fibrosis

    PubMed Central

    Patel, Premal; Rabin, Harvey R.; Vickers, Michael M.; Parkins, Michael D.

    2013-01-01

    We report a case of metastatic bladder cancer developing in a young man with cystic fibrosis (CF) that was initially diagnosed as ureterolithiasis and managed as renal colic. With the improved survival of patients with CF, an increasing burden of extrapulmonary disease manifestations is apparent. Renal colic is observed at an increased frequency in patients with CF relative to the general population and is a commonly recognized cause of hematuria. However, CF patients harboring a malignancy are recognized to be at increased risk of delayed identification owing to atypical symptoms and lack of demographic risk factors. This case illustrates how investigations to rule out malignancy are warranted in those CF patients not responding to therapies directed towards presumptive diagnoses. PMID:23762727

  1. Evolving serodiagnostics by rationally designed peptide arrays: the Burkholderia paradigm in Cystic Fibrosis.

    PubMed

    Peri, Claudio; Gori, Alessandro; Gagni, Paola; Sola, Laura; Girelli, Daniela; Sottotetti, Samantha; Cariani, Lisa; Chiari, Marcella; Cretich, Marina; Colombo, Giorgio

    2016-01-01

    Efficient diagnosis of emerging and novel bacterial infections is fundamental to guide decisions on therapeutic treatments. Here, we engineered a novel rational strategy to design peptide microarray platforms, which combines structural and genomic analyses to predict the binding interfaces between diverse protein antigens and antibodies against Burkholderia cepacia complex infections present in the sera of Cystic Fibrosis (CF) patients. The predicted binding interfaces on the antigens are synthesized in the form of isolated peptides and chemically optimized for controlled orientation on the surface. Our platform displays multiple Burkholderia-related epitopes and is shown to diagnose infected individuals even in presence of superinfections caused by other prevalent CF pathogens, with limited cost and time requirements. Moreover, our data point out that the specific patterns determined by combined probe responses might provide a characterization of Burkholderia infections even at the subtype level (genomovars). The method is general and immediately applicable to other bacteria.

  2. Is Gastroparesis Found More Frequently in Patients with Cystic Fibrosis? A Systematic Review.

    PubMed

    Corral, Juan E; Dye, Corey W; Mascarenhas, Maria R; Barkin, Jamie S; Salathe, Matthias; Moshiree, Baharak

    2016-01-01

    Cystic fibrosis (CF) is associated with different gastrointestinal motility disturbances and syndromes. We aim to assess gastric emptying in patients with CF compared to healthy controls by a systematic review of existing literature. Medical databases and abstracts from major gastroenterology and CF meetings were reviewed. Emptying times in CF patients were compared with healthy controls using random effects models. Subgroup analysis stratified results by age and diagnostic modality. Nineteen studies from 7 countries included 574 subjects (359 CF patients and 215 controls). Using pooled analysis frequency of gastroparesis was high (38%, 95% CI 30-45%) but results were highly dependent on the diagnostic modality. Delayed gastric emptying is more common in CF compared to general population. Scintigraphy identified rapid gastric emptying in a subgroup of CF patients, but this finding disappeared with adequate pancreatic enzyme replacement and after other diagnostic modalities were included. PMID:27313953

  3. Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations.

    PubMed

    Bepari, Karnajit Kumar; Malakar, Arup Kumar; Paul, Prosenjit; Halder, Binata; Chakraborty, Supriyo

    2015-01-01

    Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This gene encodes a protein involved in epithelial anion channel. Cystic fibrosis is the most common life-limiting genetic disorder in Caucasians; it also affects other ethnic groups like the Blacks and the Native Americans. Cystic fibrosis is considered to be rare among individuals from the Indian subcontinent. We analyzed a total of 29 world׳s populations for cystic fibrosis on the basis of gene frequency and heterozygosity. Among 29 countries Switzerland revealed the highest gene frequency and heterozygosity for CF (0.022, 0.043) whereas Japan recorded the lowest values (0.002, 0.004) followed by India (0.004, 0.008). Our analysis suggests that the prevalence of cystic fibrosis is very low in India. PMID:26339151

  4. Analysis of 16 cystic fibrosis mutations in Mexican patients

    SciTech Connect

    Villalobos-Torres, C.; Rojas-Martinez, A.; Barrera-Saldana, H.A.

    1997-04-14

    We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation AF508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot with allele-specific oligonucleotide probes to detect 15 additional common mutations in the Caucasian population. A frequency of 45% for AF508 was found, making it the most common in our sample of Mexican patients. Another five mutations (G542X, 3849 + 10 kb C{r_arrow}T, N1303K, S549N, and 621 + 1 G{r_arrow}T) were detected, and these accounted for 11.25%. The remaining mutations (43.75%) were undetectable with the methodology used. 20 refs., 2 tabs.

  5. Ossifying cystic odontogenic and Schneiderian choristoma of the orbit.

    PubMed

    Mudhar, Hardeep Singh; Nurrudin, Murtuza

    2014-02-01

    A 12-year-old girl presented with a left infraorbital lesion, causing upward globe displacement. Imaging confirmed a mass between the globe and the orbital floor. The lesion was removed via a sub-ciliary approach and histology revealed a a mature tooth along with a periodontal ligament, oral-type mucinous glands and bone. Six years later a mass recurred at exactly the same site and on this occasion, revealed cysts containing mucin and lined by Schneiderian type epithelium. A rather complex combination of a tooth, lamellar bone, mucinous oral type glands and Schneiderian cystic epithelium is highly unusual and we have called the lesion "ossifying cystic odontogenic and Schneiderian choristoma of the orbit."

  6. Is there a role for stool metabolomics in cystic fibrosis?

    PubMed

    Kaakoush, Nadeem O; Pickford, Russell; Jaffe, Adam; Ooi, Chee Y

    2016-08-01

    A number of studies utilizing metabolomics have focused on the pathophysiology of cystic fibrosis (CF) lung disease. Here, we performed fecal metabolomics on pancreatic insufficient (PI) and sufficient (PS) children with CF and compared them with healthy controls (HC). Fecal metabolomics can differentiate between PS-CF and PI-CF. We identified a potential biomarker of disease severity or cystic fibrosis transmembrane conductance regulator function (m/z, 463.247; retention time, 0.570717 min) that discriminates between HC versus PS-CF versus PI-CF. We also identified lipoyl-GMP as a potential novel inflammatory biomarker, and elevation in fecal glycerol 1,2-didodecanoate 3-tetradecanoate may provide clues to the pathogenesis of intestinal inflammation. For the first time, we demonstrate the potential applications of fecal metabolomics in CF. PMID:27553892

  7. Coexistent mesenteric and ovarian mature cystic teratomas: a case report.

    PubMed

    Lee, D H

    2016-01-01

    This report describes the first documented case of coexistent mesenteric and gonadal teratomas in an adult female patient. Physical examination of a 51-year-old Korean woman referred for treatment of abdominal distension and pain revealed two masses in both the right upper abdomen and in the right pelvic region. Computed tomography (CT) of the abdomen and pelvis showed the presence of well-defined, complex, fat-dense mass lesions in the upper abdomen and pelvic cavity. A large cystic mass located in the retroperitoneal space extending from the mesenteric border at the level of the transverse colon, and a goose-egg sized right ovarian mass were founded on exploratory laparotomy. The entire abdominal tumor was excised and total hysterectomy with bilateral salpingo-oophorectomy was performed. Examination of the macroscopic and microscopic findings led to diagnosis of mature cystic teratomas of the ovary and the mesentery. The patient's postoperative course was uneventful. PMID:27352571

  8. Progress in cystic fibrosis and the CF Therapeutics Development Network

    PubMed Central

    Rowe, Steven M; Borowitz, Drucy S; Burns, Jane L; Clancy, John P; Donaldson, Scott H; Retsch-Bogart, George; Sagel, Scott D; Ramsey, Bonnie W

    2013-01-01

    Cystic fibrosis (CF), the most common life-shortening genetic disorder in Caucasians, affects approximately 70 000 individuals worldwide. In 1998, the Cystic Fibrosis Foundation (CFF) launched the CF Therapeutics Development Network (CF-TDN) as a central element of its Therapeutics Development Programme. Designed to accelerate the clinical evaluation of new therapies needed to fulfil the CFF mission to control and cure CF, the CF-TDN has conducted 75 clinical trials since its inception, and has contributed to studies as varied as initial safety and proof of concept trials to pivotal programmes required for regulatory approval. This review highlights recent and significant research efforts of the CF-TDN, including a summary of contributions to studies involving CF transmembrane conductance regulator (CFTR) modulators, airway surface liquid hydrators and mucus modifiers, anti-infectives, anti-inflammatories, and nutritional therapies. Efforts to advance CF biomarkers, necessary to accelerate the therapeutic goals of the network, are also summarised. PMID:22960984

  9. Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences.

    PubMed

    Lavelle, Gillian M; White, Michelle M; Browne, Niall; McElvaney, Noel G; Reeves, Emer P

    2016-01-01

    Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resultant characteristic ion transport defect results in decreased mucociliary clearance, bacterial colonisation, and chronic neutrophil-dominated inflammation. Much knowledge surrounding the pathophysiology of the disease has been gained through the generation of animal models, despite inherent limitations in each. The failure of certain mouse models to recapitulate the phenotypic manifestations of human disease has initiated the generation of larger animals in which to study CF, including the pig and the ferret. This review will summarise the basic phenotypes of three animal models and describe the contributions of such animal studies to our current understanding of CF. PMID:27340661

  10. Multifunctional superparamagnetic nanoparticles for enhanced drug transport in cystic fibrosis

    NASA Astrophysics Data System (ADS)

    Armijo, Leisha M.; Brandt, Yekaterina I.; Rivera, Antonio C.; Cook, Nathaniel C.; Plumley, John B.; Withers, Nathan J.; Kopciuch, Michael; Smolyakov, Gennady A.; Huber, Dale L.; Smyth, Hugh D.; Osinski, Marek

    2012-10-01

    Iron oxide colloidal nanoparticles (ferrofluids) are investigated for application in the treatment of cystic fibrosis lung infections, the leading cause of mortality in cystic fibrosis patients. We investigate the use of iron oxide nanoparticles to increase the effectiveness of administering antibiotics through aerosol inhalation using two mechanisms: directed particle movement in the presence of an inhomogeneous static external magnetic field and magnetic hyperthermia. Magnetic hyperthermia is an effective method for decreasing the viscosity of the mucus and biofilm, thereby enhancing drug, immune cell, and antibody penetration to the affected area. Iron oxide nanoparticles of various sizes and morphologies were synthesized and tested for specific losses (heating power). Nanoparticles in the superparamagnetic to ferromagnetic size range exhibited excellent heating power. Additionally, iron oxide / zinc selenide core/shell nanoparticles were prepared, in order to enable imaging of the iron oxide nanoparticles. We also report on synthesis and characterization of MnSe/ZnSeS alloyed quantum dots.

  11. Cystic Fibrosis-Related Diabetes in Children: An Update.

    PubMed

    Kim, Roy J

    2016-09-01

    Cystic fibrosis-related diabetes mellitus (CFRD) is the most common endocrine complication of cystic fibrosis (CF), affecting more than 50% of patients by the 4th decade of life. CFRD is often preceded by worsening pulmonary status and nutritional decline. Treatment of CFRD is associated with improvements in body weight and pulmonary function and a reduction in pulmonary exacerbations. Because of the clinical significance of CFRD, diabetes screening with an oral glucose tolerance test (OGTT) is recommended annually for all patients with CF starting at age 10 years. The OGTT detects CFRD with greater sensitivity than random glucose or hemoglobin A1c testing. The first-line treatment for CFRD is insulin. The use of other treatments such as oral medications remains under study. [Pediatr Ann. 2016;45(9):e321-e326.].

  12. Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences

    PubMed Central

    McElvaney, Noel G.

    2016-01-01

    Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resultant characteristic ion transport defect results in decreased mucociliary clearance, bacterial colonisation, and chronic neutrophil-dominated inflammation. Much knowledge surrounding the pathophysiology of the disease has been gained through the generation of animal models, despite inherent limitations in each. The failure of certain mouse models to recapitulate the phenotypic manifestations of human disease has initiated the generation of larger animals in which to study CF, including the pig and the ferret. This review will summarise the basic phenotypes of three animal models and describe the contributions of such animal studies to our current understanding of CF. PMID:27340661

  13. Cystic Fibrosis-Related Diabetes in Children: An Update.

    PubMed

    Kim, Roy J

    2016-09-01

    Cystic fibrosis-related diabetes mellitus (CFRD) is the most common endocrine complication of cystic fibrosis (CF), affecting more than 50% of patients by the 4th decade of life. CFRD is often preceded by worsening pulmonary status and nutritional decline. Treatment of CFRD is associated with improvements in body weight and pulmonary function and a reduction in pulmonary exacerbations. Because of the clinical significance of CFRD, diabetes screening with an oral glucose tolerance test (OGTT) is recommended annually for all patients with CF starting at age 10 years. The OGTT detects CFRD with greater sensitivity than random glucose or hemoglobin A1c testing. The first-line treatment for CFRD is insulin. The use of other treatments such as oral medications remains under study. [Pediatr Ann. 2016;45(9):e321-e326.]. PMID:27622916

  14. Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis

    PubMed Central

    Dey, Isha; Shah, Kalpit; Bradbury, Neil A

    2016-01-01

    The recent FDA approval of two drugs to treat the basic defect in cystic fibrosis has given hope to patients and their families battling this devastating disease. Over many years, with heavy financial investment from Vertex Pharmaceuticals and the Cystic Fibrosis Foundation, pre-clinical evaluation of thousands of synthetic drugs resulted in the production of Kalydeco and Orkambi. Yet, despite the success of this endeavor, many other compounds have been proposed as therapeutic agents in the treatment of CF. Of note, several of these compounds are naturally occurring, and are present in spices from the grocery store and over the counter preparations in health food stores. In this short review, we look at three such compounds, genistein, curcumin, and resveratrol, and evaluate the scientific support for their use as therapeutic agents in the treatment of patients with CF. PMID:27081574

  15. Giant cystic pheochromocytoma located in the renal hilus.

    PubMed

    Melegh, Zsombor; Rényi-Vámos, Ferenc; Tanyay, Zoltán; Köves, István; Orosz, Zsolt

    2002-01-01

    A malignant tumor in the past medical history of a patient often makes the differential diagnosis of a second tumor more difficult, especially if one of the tumors does not show its characteristic features. The authors report a case of a 55-year-old male who presented with a malignant melanoma on his left shoulder. A retroperitoneal giant cystic mass, 200 mm in diameter, was found incidentally. Adrenal origin was ruled out by imaging techniques. The absence of typical clinical symptoms made a correct preoperative diagnosis unlikely, and severe cardiovascular complications set in during surgery. Considering the characteristics of the cutaneous malignant melanoma, the metastatic origin of the giant retroperitoneal tumor was not likely either. During surgery the left kidney, with a cystic tumor located in the hilus, was removed. The postoperative pathologic diagnosis was pheochromocytoma located in the hilus of the left kidney.

  16. Family structure and mothers' caregiving of children with cystic fibrosis.

    PubMed

    Gayer, Debra; Ganong, Lawrence

    2006-11-01

    The purpose of this investigation is to examine differences in the experiences of mothers of children with cystic fibrosis who are in diverse family structures (first-marriage families, stepfamily households, single-parent households). In particular, mothers' perceptions of children's health, adherence to prescribed treatments, and help received from others were compared and predictors of treatment adherence were examined. Children's health and adherence to treatment regimens were not related to family structure. Mothers had the major responsibility for seeing that cystic fibrosis treatments were followed, regardless of family structure. Single mothers received less help than married and repartnered mothers. Married fathers helped with treatments more than nonresidential divorced fathers and stepfathers. Implications for nursing practice and suggestions for future research are offered.

  17. Paraovarian cystic endosalpingiosis in association with tamoxifen therapy

    PubMed Central

    McCluggage, W; Weir, P

    2000-01-01

    This report describes a case of macroscopically visible cystic endosalpingiosis involving the paraovarian region in a woman who had been taking tamoxifen for breast cancer. A 2.5 cm multicystic lesion was seen on the external surface of the right ovary and histological examination showed a mass of dilated glands lined by ciliated tubal-type epithelium and set in a fibrovascular stroma. Cystic endosalpingiosis resulting in a tumour-like mass is a rarely described entity which is probably not well recognised by histopathologists. Although unlikely to be mistaken for malignancy, the lesion may result in diagnostic confusion. The role of tamoxifen in the development of the lesion in the present case is not clear but the oestrogenic effects of this drug may have contributed to its formation. Key Words: ovary • paraovarian region • endosalpingiosis, tamoxifen PMID:10767837

  18. Rare Case of Ovarian Cystic Lymphangioma Managed at Laparoscopy.

    PubMed

    Naik, Sejal Arunbhai

    2011-01-01

    Lymphangiomas are rare, usually benign tumors of the lymphatic system. Lymphangiomas may arise in any part of the body. Lymphangioma of the ovary is very rare tumor, which is usually slow-growing, remains asymptomatic for a long time, and identified incidentally at histopathological examination after excision. It is advisable to excise the lesion with microscopically clear margins. Many times, diagnosis becomes difficult because of confusion with malignant ovarian mass, especially in post-menopausal woman. A 72-year-old post-menopausal woman had a symptomatic pelvic mass. Imaging studies demonstrated a complex right ovarian cyst. Laparoscopic total hysterectomy with bilateral salpingo-oophorectomy was performed successfully. Cystic Lymphangioma should be included in the differential diagnosis of an ovarian cystic mass, and laparoscopic excision may be the method of treatment. PMID:26085753

  19. Rare Case of Ovarian Cystic Lymphangioma Managed at Laparoscopy

    PubMed Central

    Naik, Sejal Arunbhai

    2011-01-01

    Lymphangiomas are rare, usually benign tumors of the lymphatic system. Lymphangiomas may arise in any part of the body. Lymphangioma of the ovary is very rare tumor, which is usually slow-growing, remains asymptomatic for a long time, and identified incidentally at histopathological examination after excision. It is advisable to excise the lesion with microscopically clear margins. Many times, diagnosis becomes difficult because of confusion with malignant ovarian mass, especially in post-menopausal woman. A 72-year-old post-menopausal woman had a symptomatic pelvic mass. Imaging studies demonstrated a complex right ovarian cyst. Laparoscopic total hysterectomy with bilateral salpingo-oophorectomy was performed successfully. Cystic Lymphangioma should be included in the differential diagnosis of an ovarian cystic mass, and laparoscopic excision may be the method of treatment. PMID:26085753

  20. Transendoscopic Nd:YAG ablation of cystic lesions in 27 large animals: 1986-1995

    NASA Astrophysics Data System (ADS)

    Tate, Lloyd P.

    1997-05-01

    Hospital medical surgery records and laser logs were examined to determine the population of large animals presented to the College of Veterinary Medicine treated by laser and conventional means for cystic lesions. Cystic lesions were most frequently found in 2 anatomical locations: endometrial cysts and upper respiratory cysts. The majority of endometrial cysts were considered to be acquired, whereas the most frequently encountered upper respiratory cysts were believed to be congenital due to the fact they were most frequently seen in young animals. Nine mares, totaling 42 endometrial cysts, were presented to the Veterinary Teaching Hospital (VTH), all of which had been treated by transendoscopic Nd:YAG laser ablation. Eighteen of the respiratory cysts in the same time period were presented to the VTH, of which 10 received conventional surgery and 8 were laser photoablated. Respiratory cysts treated by conventional surgery were generally found in locations inaccessible to visualization by transendoscopic technique, and thus required a surgical approach under general anesthesia. All mares with endometrial cysts were presented with a history of conception failure. After laser ablation, a majority of the mares were able to carry a foal to term and none represented with recurrence of endometrial cysts. Horses that presented with upper respiratory cysts also did not experience recurrence of cysts; although several horses, 1 treated by laser ablation and 4 treated by conventional surgery for frontal and/or maxillary sinus cysts, had transitory sinusitis. Transendoscopic Nd:YAG photoablation of cysts appears to be a very satisfactory means of treating this particular form of lesion in large animals with minimal complications and it can be performed with the animal in a standing position as an outpatient.

  1. Optimising inhaled mannitol for cystic fibrosis in an adult population

    PubMed Central

    Flume, Patrick A.; Aitken, Moira L.; Agent, Penny; Charlton, Brett; Forster, Emma; Fox, Howard G.; Hebestreit, Helge; Kolbe, John; Zuckerman, Jonathan B; Button, Brenda M.

    2015-01-01

    Abstract There has been remarkable progress in the treatment of cystic fibrosis (CF) patients over the past 20 years. However, limitations of standard therapies have highlighted the need for a convenient alternative treatment to effectively target the pathophysiologic basis of CF-related disease by improving mucociliary clearance of airway secretions and consequently improve lung function and reduce respiratory exacerbations. Mannitol is an osmotic agent available as a dry powder, dispensed in a convenient disposable inhaler device for the treatment of adult patients with CF. Inhalation of mannitol as a dry powder is thought to change the viscoelastic properties of airway secretions, increase the hydration of the airway surface liquid and contribute to increased mucociliary and cough clearance of retained secretions. In two large phase 3 studies [1, 2], long-term use of inhaled mannitol resulted in a significant and clinically meaningful improvement in lung function relative to control in adult CF subjects and had an acceptable safety profile. Clinical experience with inhaled mannitol confirms that it is safe and effective. A minority of patients are unable to tolerate the medication. However, through training in proper inhaler technique and setting clear expectations regarding therapeutic effects, both the tolerance and adherence necessary for long term efficacy can be positively influenced. Educational aims To discuss the importance of airway clearance treatments in the management of cystic fibrosis. To describe the clinical data that supports the use of mannitol in adult patients with cystic fibrosis. To highlight the role of mannitol tolerance testing in screening for hyperresponsiveness. To provide practical considerations for patient education in use of mannitol inhaler. Key points Inhaled mannitol is a safe and effective option in adult patients with cystic fibrosis. Mannitol tolerance testing effectively screens for hyperresponsiveness prior to initiation

  2. Pancreatic changes in cystic fibrosis: CT and sonographic appearances

    SciTech Connect

    Daneman, A.; Gaskin, K.; Martin, D.J.; Cutz, E.

    1983-10-01

    The computed tomographic (CT) and sonographic appearances of the late stages of pancreatic damage in three patients with cystic fibrosis are illustrated. All three had severe exocrine pancreatic insufficiency with steatorrhea. In two patients CT revealed complete fatty replacement of the entire pancreas. In the third, increased echogenicity of the pancreas on sonography and the inhomogeneous attenuation on CT were interpreted as being the result of a combination of fibrosis, fatty replacement, calcification, and probable cyst formation.

  3. Is deafness mutation screening required in cystic fibrosis patients?

    PubMed

    Abusamra, Rania; McShane, Donna

    2016-08-01

    Aminoglycosides are widely used in cystic fibrosis management. The m.1555A>G mutation predisposes to aminoglycoside ototoxicity. It may cause later onset hearing loss in the absence of aminoglycosides use and gradual hearing loss may be an inevitable consequence of the mutation. Given that aminoglycoside therapy forms the backbone of IV protocols in CF, this article recommends screening for this mutation to allow informed decision-making prior to aminoglycoside administration, to avoid preventable deafness. PMID:27427311

  4. Recent advances in the management of cystic fibrosis.

    PubMed

    Davies, Jane C; Ebdon, Anne-Marie; Orchard, Christopher

    2014-11-01

    Cystic fibrosis is a disease that still causes a reduced life expectancy. The treatment burden remains high for affected individuals with often a combination of multiple oral and inhaled medications, as well as physiotherapy, required on a daily basis. In this article, we look at an overview of the pathogenesis, how this might lead to treatment options and look at some of the available new therapies, all in the aim of increasing life expectancy and reducing treatment burden. PMID:24996790

  5. Pancreatic Cystic Fluid Reference Set — EDRN Public Portal

    Cancer.gov

    The proposed reference set will be designed to evaluate biomarkers for the following applications aimed at determining whether a patient would benefit from surgical resection of their cystic lesion: 1. Distinguish between pancreatic cysts that have high-malignant potential and cysts that have low or no malignant potential at time of endoscopic ultrasound evaluation. a. By analysis of blood b. By analysis of pancreatic cystic fluid 2. Distinguish between cysts that have any malignant potential (high and low) and cysts that have no malignant potential (benign lesions) at time of endoscopic ultrasound evaluation. a. By analysis of blood b. By analysis of pancreatic cystic fluid 3. Distinguish between a cyst that is mucinous (malignant potential) or non-mucinous (no malignant potential) at time of endoscopic ultrasound evaluation. a. By analysis of blood b. By analysis of pancreatic cystic fluid 4. Distinguish between pancreatic cysts that have high-malignant potential and cysts that have low or no malignant potential at time of evaluation in surgery clinic. a. By analysis of blood 5. Distinguish between cysts that have any malignant potential (high and low) and cysts that have no malignant potential (benign lesions) at time of evaluation in surgery clinic. a. By analysis of blood 6. Distinguish between a cyst that is mucinous (malignant potential) or non-mucinous (no malignant potential) at time of evaluation in surgery clinic. a. By analysis of blood If successful in meeting these afore-mentioned objectives, these results can then be used in the development of future studies at identifying the need for additional evaluation (i.e., endoscopic ultrasound with fine needle aspiration) of an incidental cyst

  6. Partial splenectomy in cystic fibrosis patients with hypersplenism.

    PubMed

    Thalhammer, G H; Eber, E; Uranüs, S; Pfeifer, J; Zach, M S

    2003-02-01

    We report three cystic fibrosis (CF) patients with hypersplenism who underwent partial splenectomy. The postoperative course was uneventful in two patients; one patient developed a complication necessitating resection of the rest of the spleen. Haematological parameters improved and oesophageal varices regressed in all patients. On follow up, one patient showed a normal spleen, the other a normally functioning accessory spleen; the third patient again developed splenomegaly with hypersplenism. Partial splenectomy is a promising therapeutic option for CF patients with hypersplenism. PMID:12538318

  7. Association of cystic nephroma with angiomyolipoma in the same kidney.

    PubMed

    Val-Bernal, J F; Hernández-Nieto, E; Garijo, M F

    2000-01-01

    The synchronous occurrence of two different renal tumors in a patient is a rare event. Here we report an incidentally discovered coexistence of cystic nephroma with angiomyolipoma in the right kidney. The patient was a 68-year-old woman without the tuberous sclerosis complex. To the best of our knowledge, this combination of neoplasms has not yet been described before. This rare situation emphasizes the need for careful diagnosis and the correct management of coincident renal neoplasms.

  8. Cystic gene dosage influences kidney lesions after nephron reduction.

    PubMed

    Le Corre, Stéphanie; Viau, Amandine; Burtin, Martine; El-Karoui, Khalil; Cnops, Yvette; Terryn, Sara; Debaix, Huguette; Bérissi, Sophie; Gubler, Marie-Claire; Devuyst, Olivier; Terzi, Fabiola

    2015-01-01

    Cystic kidney disease is characterized by the progressive development of multiple fluid-filled cysts. Cysts can be acquired, or they may appear during development or in postnatal life due to specific gene defects and lead to renal failure. The most frequent form of this disease is the inherited polycystic kidney disease (PKD). Experimental models of PKD showed that an increase of cellular proliferation and apoptosis as well as defects in apico-basal and planar cell polarity or cilia play a critical role in cyst development. However, little is known about the mechanisms and the mediators involved in acquired cystic kidney diseases (ACKD). In this study, we used the nephron reduction as a model to study the mechanisms underlying cyst development in ACKD. We found that tubular dilations after nephron reduction recapitulated most of the morphological features of ACKD. The development of tubular dilations was associated with a dramatic increase of cell proliferation. In contrast, the apico-basal polarity and cilia did not seem to be affected. Interestingly, polycystin 1 and fibrocystin were markedly increased and polycystin 2 was decreased in cells lining the dilated tubules, whereas the expression of several other cystic genes did not change. More importantly, Pkd1 haploinsufficiency accelerated the development of tubular dilations after nephron reduction, a phenotype that was associated to a further increase of cell proliferation. These data were relevant to humans ACKD, as cystic genes expression and the rate of cell proliferation were also increased. In conclusion, our study suggests that the nephron reduction can be considered a suitable model to study ACKD and that dosage of genes involved in PKD is also important in ACKD.

  9. Retroperitoneal cystic lymphangioma: a rare presentation in childhood, treated laparoscopically.

    PubMed

    Singh, Rashmi R; Govindarajan, Krishna K; Bowen, Claire; Chandran, Harish

    2009-04-01

    Retroperitoneal cystic lymphangioma is a rare benign lesion of childhood. A 15-year-old girl underwent laparoscopic excision of such a cyst. On histopathological examination, the resection was complete. She had an uneventful recovery and remains asymptomatic. We report this in view of the rarity of this condition and also the unusual presentation of this case. Complete surgical excision via laparoscopy is a feasible option.

  10. [Thoracic and retroperitoneal cystic lymphangiomyomatosis. Value of lymphography].

    PubMed

    Caron-Poitreau, C; Racineux, J L; Raimbault, J P; Dauver, A

    1979-01-01

    Standard radiological examinations in a woman of 40 years of age with a pneumothorax and chylothorax revealed the presence of a posterior mediastinal mass compressing the oesophagus, and an interstitial syndrome. Retroperitoneal and mediastinal cystic lymphangiomas were found on lymphography. These findings are in accordance with the lymphangiomyomatosis described by Cornog and Enterline in 1966. The similarity between this disease and tuberculous sclerosis is underlined in present-day publications.

  11. An autochthonous case of cystic echinococcosis in Finland, 2015.

    PubMed

    Hämäläinen, Sari; Kantele, Anu; Arvonen, Miika; Hakala, Tapio; Karhukorpi, Jari; Heikkinen, Jukka; Berg, Ensio; Vanamo, Kari; Tyrväinen, Erja; Heiskanen-Kosma, Tarja; Oksanen, Antti; Lavikainen, Antti

    2015-01-01

    We report a case of pulmonary cystic echinococcosis in a child from eastern Finland with no history of travelling abroad. The cyst was surgically removed and the organism molecularly identified as Echinococcus canadensis genotype G10. This parasite is maintained in eastern Finland in a sylvatic life cycle involving wolves and moose; in the present case, the infection was presumably transmitted by hunting dogs. PMID:26538367

  12. The dangers of using stapling devices for cystic duct closure in laparoscopic cholecystectomy.

    PubMed

    Belgaumkar, Ajay P; Carswell, Kirstin A; Chang, Avril; Patel, Ameet G

    2009-10-01

    Laparoscopic stapling devices are used widely in laparoscopic surgery, for division of vessels and creation of anastomoses. Their use in the division of a widened cystic duct at laparoscopic cholecystectomy has been reported earlier. We present 3 different complications occurring after division of the cystic duct using the EndoGIA stapling device. A review of the literature has been performed and safe alternative techniques for laparoscopic ligation of the cystic duct are proposed.

  13. Adenoid Cystic Carcinoma of the Buccal Mucosa: A Case Report with Review of Literature

    PubMed Central

    S, Vidyalakshmi; R, Aravindhan

    2014-01-01

    Minor salivary gland neoplasms of the buccal mucosa are relatively uncommon. Adenoid cystic carcinoma (ACC), a well-defined entity, occurs most of the times in the parotid, submandibular glands and palate, as far as the intraoral site is concerned. Adenoid cystic carcinoma tends to have an indolent, extended clinical course with wide local infiltration and late distant metastases. We are presenting a case of an adenoid cystic carcinoma of the buccal mucosa in a 48-year-old female patient. PMID:24783155

  14. Retroperitoneal bronchogenic cyst as a differential diagnosis of pancreatic mucinous cystic tumor.

    PubMed

    Andersson, Roland; Lindell, Gert; Cwikiel, Wojciech; Dawiskiba, Sigmund

    2003-01-01

    Cystic tumors of the pancreas where a pseudocyst has not been able to be excluded has been considered potentially proliferative and pre-malignant or malignant and thus aggressive surgical approach has been advocated. Retroperitoneal cystic tumors are rare and among these bronchogenic cysts are extremely infrequent. The present paper describes a case of bronchogenic cyst in association with the pancreas in which diagnostic work-up was not able to exclude a proliferative pancreatic cystic tumor.

  15. Large retroperitoneal schwannoma mimicking a cystic ovarian mass in a patient with Hansen's disease.

    PubMed

    Surendrababu, Narayanam R S; Cherian, Sucy Rekha; Janakiraman, Rajinikanth; Walter, Noel

    2008-06-01

    We present a rare case of retroperitoneal cystic schwannoma of the pelvis in a patient with Hansen's disease that mimicked an ovarian cyst. Due to economic constraints and because the lesion was assumed to be of ovarian origin, the patient did not undergo any cross-sectional imaging other than sonography. Sonographically guided fine needle aspiration of the cystic lesion was inconclusive. A cystic schwannoma was diagnosed at laparotomy.

  16. [Differential diagnostic procedure in sonographically detected fetal cystic hygroma].

    PubMed

    Holzgreve, W

    1985-01-01

    A series of 5 consecutive cases of fetal cystic hygroma diagnosed prenatally in the second trimester by sonography within a year in an ultrasound screening program is presented. 3 fetuses had a 45,X karyotype, one fetus had a 47,XY,+21 chromosome constitution and in one case no cytogenetic abnormality could be found. Because there was a cleft palate present in this latter female fetus, it is possible that this was a case of the recently described malformation syndrome. 3 of the pregnancies with fetal cystic hygroma ended in spontaneous abortion, in the other 2 cases the parents decided after careful genetic counseling to have an elective termination of pregnancy. Although Turner syndrome is the most frequent finding in cases of nuchal hygroma detected in utero by ultrasound, careful sonographic and cytogenetic studies as well as a detailed family history have to be obtained to delineate the cause of the malformation. On autopsy in all 3 cases with 45,X karyotype there were streak gonads, in 2 cases an additional hypoplasia of the aortic arch was found. Amniotic fluid alpha-fetoprotein and acetylcholinesterase determinations did not prove to add any significant information to the ultrasound evaluation of fetal cystic hygroma.

  17. Imaging medullary cystic kidney disease with magnetic resonance.

    PubMed

    Meier, Pascal; Farres, Maria Teresa; Mougenot, Béatrice; Jacob, Laurent; Le Goas, Françoise; Antignac, Corinne; Ronco, Pierre

    2003-07-01

    Medullary cystic kidney disease is characterized by multiple renal cysts at the corticomedullary boundary area, by autosomal dominant inheritance, and by onset of chronic renal failure in the third decade of life. Its clinical manifestations are often insignificant and nonspecific. Furthermore, its diagnosis may be difficult in sporadic forms where genetic linkage analysis cannot be performed. The authors report the case of a patient presenting with a sporadic form of medullary cystic kidney disease whose diagnosis was confirmed using computerized tomography with 3-dimensional reconstruction at the nephrography-excretion time and magnetic resonance imaging (MRI) with magnetic resonance angiography and urography after the injection of gadolinium, a nonnephrotoxic compound. Both imaging techniques showed normal-sized, normal-shaped kidneys containing multiple cysts from 1 to 30 mm in diameter in the medulla and at the corticomedullary junction. A characteristic medullary nephrogram appeared after injection of iodinated contrast medium or gadolinium corresponding to contrast-filled dilated collecting ducts. This report shows that MRI with gadolinium injection can substitute for computerized tomography in azotemic patients. MRI seems particularly promising for the diagnosis of cystic diseases of the kidney and must also be considered when investigating a patient with chronic renal failure of unknown origin. PMID:12830488

  18. The Dynamics of Disease Progression in Cystic Fibrosis

    PubMed Central

    Adler, Frederick R.; Liou, Theodore G.

    2016-01-01

    In cystic fibrosis, statistical models have been more successful in predicting mortality than the time course of clinical status. We develop a system of partial differential equations that simultaneously track mortality and patient status, with all model parameters estimated from the extensive and carefully maintained database from the Cystic Fibrosis Foundation. Cystic fibrosis is an autosomal recessive disease that leads to loss of lung function, most commonly assessed using the Forced Expiratory Volume in 1 second (FEV1%). This loss results from inflammation secondary to chronic bacterial infections, particularly Pseudomonas aeruginosa, methicillin-sensitive Staphylococcus aureus (MSSA) and members of the virulent Burkholderia complex. The model tracks FEV1% and carriage of these three bacteria over the course of a patient’s life. Analysis of patient state changes from year to year reveals four feedback loops: a damaging positive feedback loop between P. aeruginosa carriage and lower FEV1%, negative feedback loops between P. aeruginosa and MSSA and between P. aeruginosa and Burkholderia, and a protective positive feedback loop between MSSA carriage and higher FEV1%. The partial differential equations built from this data analysis accurately capture the life-long progression of the disease, quantify the key role of high annual FEV1% variability in reducing survivorship, the relative unimportance of short-term bacterial interactions for long-term survival, and the potential benefits of eradicating the most harmful bacteria. PMID:27248696

  19. Personalized medicine for cystic fibrosis: establishing human model systems.

    PubMed

    Mou, Hongmei; Brazauskas, Karissa; Rajagopal, Jayaraj

    2015-10-01

    With over 1,500 identifiable mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that result in distinct functional and phenotypical abnormalities, it is virtually impossible to perform randomized clinical trials to identify the best therapeutics for all patients. Therefore, a personalized medicine approach is essential. The only way to realistically accomplish this is through the development of improved in vitro human model systems. The lack of a readily available and infinite supply of human CFTR-expressing airway epithelial cells is a key bottleneck. We propose that a concerted two-pronged approach is necessary for patient-specific cystic fibrosis research to continue to prosper and realize its potential: (1) more effective culture and differentiation conditions for growing primary human airway and nasal epithelial cells and (2) the development of collective protocols for efficiently differentiating disease- and patient-specific induced pluripotent stem cells (iPSC) into pure populations of adult epithelial cells. Ultimately, we need a personalized human model system for cystic fibrosis with the capacity for uncomplicated bankability, widespread availability, and universal applicability for patient-specific disease modeling, novel pharmacotherapy investigation and screening, and readily executable genetic modification.

  20. Molecular aspects of bovine cystic ovarian disease pathogenesis.

    PubMed

    Ortega, Hugo H; Marelli, Belkis E; Rey, Florencia; Amweg, Ayelen N; Díaz, Pablo U; Stangaferro, Matías L; Salvetti, Natalia R

    2015-06-01

    Cystic ovarian disease (COD) is one of the main causes of reproductive failure in cattle and causes severe economic loss to the dairy farm industry because it increases both days open in the post partum period and replacement rates due to infertility. This disease is the consequence of the failure of a mature follicle to ovulate at the time of ovulation in the estrous cycle. This review examines the evidence for the role of altered steroid and gonadotropin signaling systems and the proliferation/apoptosis balance in the ovary with cystic structures. This evidence suggests that changes in the expression of ovarian molecular components associated with these cellular mechanisms could play a fundamental role in the pathogenesis of COD. The evidence also shows that gonadotropin receptor expression in bovine cystic follicles is altered, which suggests that changes in the signaling system of gonadotropins could play a fundamental role in the pathogenesis of conditions characterized by altered ovulation, such as COD. Ovaries from animals with COD exhibit a disrupted steroid receptor pattern with modifications in the expression of coregulatory proteins. These changes in the pathways of endocrine action would trigger the changes in proliferation and apoptosis underlying the aberrant persistence of follicular cysts. Free Spanish abstract: A Spanish translation of this abstract is freely available at http://www.reproduction-online.org/content/149/6/R251/suppl/DC1.

  1. [Cystic fibrosis: new treatments targeting the CFTR protein].

    PubMed

    Fajac, I; Sermet-Gaudelus, I

    2013-04-01

    Cystic fibrosis is an autosomal recessive genetic disease due to mutations in the (cystic fibrosis transmembrane conductance regulator) CFTR gene. The CFTR protein is a chloride channel expressed at the surface of several epithelial cells. Defective function of the CFTR protein leads to a severe disease in which lung disease is the leading cause of death. Current treatments are symptomatic. Nevertheless, with specialist and holistic care in dedicated cystic fibrosis centres, the median survival has improved. But the average age of death remains 29 years. Innovative molecules aiming to correct the CFTR protein itself are under development. These will be personalised treatments depending on the genotype or the type of CFTR dysfunction. The first molecule, ivacaftor, has just been approved in Europe and the USA. Adults and children treated with ivacaftor in clinical trials had a 10% improvement in FEV1 that was maintained for more than a year. Although at present ivacaftor is approved for only a small percentage of patients, the therapeutic strategy of correcting CFTR protein has been proved a valid approach. Other molecules targeting other defects in the CFTR protein are under evaluation.

  2. Cystic Fibrosis Gene Therapy in the UK and Elsewhere.

    PubMed

    Griesenbach, Uta; Pytel, Kamila M; Alton, Eric W F W

    2015-05-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) gene was identified in 1989. This opened the door for the development of cystic fibrosis (CF) gene therapy, which has been actively pursued for the last 20 years. Although 26 clinical trials involving approximately 450 patients have been carried out, the vast majority of these trials were short and included small numbers of patients; they were not designed to assess clinical benefit, but to establish safety and proof-of-concept for gene transfer using molecular end points such as the detection of recombinant mRNA or correction of the ion transport defect. The only currently published trial designed and powered to assess clinical efficacy (defined as improvement in lung function) administered AAV2-CFTR to the lungs of patients with CF. The U.K. Cystic Fibrosis Gene Therapy Consortium completed, in the autumn of 2014, the first nonviral gene therapy trial designed to answer whether repeated nonviral gene transfer (12 doses over 12 months) can lead to clinical benefit. The demonstration that the molecular defect in CFTR can be corrected with small-molecule drugs, and the success of gene therapy in other monogenic diseases, is boosting interest in CF gene therapy. Developments are discussed here.

  3. Cystic Fibrosis Gene Therapy in the UK and Elsewhere

    PubMed Central

    Pytel, Kamila M.; Alton, Eric W.F.W.

    2015-01-01

    Abstract The cystic fibrosis transmembrane conductance regulator (CFTR) gene was identified in 1989. This opened the door for the development of cystic fibrosis (CF) gene therapy, which has been actively pursued for the last 20 years. Although 26 clinical trials involving approximately 450 patients have been carried out, the vast majority of these trials were short and included small numbers of patients; they were not designed to assess clinical benefit, but to establish safety and proof-of-concept for gene transfer using molecular end points such as the detection of recombinant mRNA or correction of the ion transport defect. The only currently published trial designed and powered to assess clinical efficacy (defined as improvement in lung function) administered AAV2-CFTR to the lungs of patients with CF. The U.K. Cystic Fibrosis Gene Therapy Consortium completed, in the autumn of 2014, the first nonviral gene therapy trial designed to answer whether repeated nonviral gene transfer (12 doses over 12 months) can lead to clinical benefit. The demonstration that the molecular defect in CFTR can be corrected with small-molecule drugs, and the success of gene therapy in other monogenic diseases, is boosting interest in CF gene therapy. Developments are discussed here. PMID:25838137

  4. CYSTIC FIBROSIS AND ANTIBIOTIC HYPERSENSITIVITY: PRESENT KNOWLEDGE AND PRACTICAL APPROACH.

    PubMed

    Caimmi, D; Chiron, R; Tremblay, F; Caimmi, S; Ricci, A; Licari, A; Marseglia, G L

    2015-01-01

    Cystic fibrosis is one of the most common fatal genetic diseases (1 in 2500 births). The defect causing the disease is localized on the 7q31 gene, which codifies for the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) transmembrane protein. CFTR is a chloride channel localized on the epithelial cells of the mucosa of the respiratory tract, pancreatic ducts, biliary tree, intestine, vas deferens and sweat glands. More than 2000 different mutations are currently known; some are prominent or relatively frequent, ranging from one population to another. The most frequent complications of cystic fibrosis are those affecting the bronchial tree. Patients suffer from recurrent lung infections, which involve a progressive loss of lung function. The pulmonary infections are frequent or chronic and limit the quality of life of patients. In addition to being enormously exposed to antibiotics, they have many more opportunities to develop hypersensitivity reactions to these molecules. Only a complete allergy work-up with a detailed analysis of the clinical history, skin tests and provocation test can show if the patient has actually experienced an allergic hypersensitivity reaction. Desensitization is to be considered as a treatment that may help patients benefit from antibiotic treatment in those cases in which they have a proven allergy to a certain molecule. PMID:26634585

  5. A Haplotype Framework for Cystic Fibrosis Mutations in Iran

    PubMed Central

    Elahi, Elahe; Khodadad, Ahmad; Kupershmidt, Ilya; Ghasemi, Fereshteh; Alinasab, Babak; Naghizadeh, Ramin; Eason, Robert G.; Amini, Mahshid; Esmaili, Mehran; Esmaeili Dooki, Mohammad R.; Sanati, Mohammad H.; Davis, Ronald W.; Ronaghi, Mostafa; Thorstenson, Yvonne R.

    2006-01-01

    This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify disease-causing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, under-diagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, ΔF508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population. PMID:16436643

  6. Heritability of Respiratory Infection with Pseudomonas aeruginosa in Cystic Fibrosis

    PubMed Central

    Green, Deanna M.; Collaco, J. Michael; McDougal, Kathryn E.; Naughton, Kathleen M.; Blackman, Scott M.; Cutting, Garry R.

    2013-01-01

    Objective To quantify the relative contribution of factors other than cystic fibrosis transmembrane conductance regulator genotype and environment on the acquisition of Pseudomonas aeruginosa (Pa) by patients with cystic fibrosis. Study design Lung infection with Pa and mucoid Pa was assessed using a co-twin study design of 44 monozygous (MZ) and 17 dizygous (DZ) twin pairs. Two definitions were used to establish infection: first positive culture and persistent positive culture. Genetic contribution to infection (ie, heritability) was estimated based on concordance analysis, logistic regression, and age at onset of infection through comparison of intraclass correlation coefficients. Results Concordance for persistent Pa infection was higher in MZ (0.83; 25 of 30 pairs) than DZ twins (0.45; 5 of 11 pairs), generating a heritability of 0.76. Logistic regression adjusted for age corroborated genetic control of persistent Pa infection. The correlation for age at persistent Pa infection was higher in MZ twins (0.589; 95% CI, 0.222-0.704) than in DZ twins (0.162; 95% CI, −0.352 to 0.607), generating a heritability of 0.85. Conclusion Genetic modifiers play a significant role in the establishment and timing of persistent Pa infection in individuals with cystic fibrosis. PMID:22364820

  7. The Dynamics of Disease Progression in Cystic Fibrosis.

    PubMed

    Adler, Frederick R; Liou, Theodore G

    2016-01-01

    In cystic fibrosis, statistical models have been more successful in predicting mortality than the time course of clinical status. We develop a system of partial differential equations that simultaneously track mortality and patient status, with all model parameters estimated from the extensive and carefully maintained database from the Cystic Fibrosis Foundation. Cystic fibrosis is an autosomal recessive disease that leads to loss of lung function, most commonly assessed using the Forced Expiratory Volume in 1 second (FEV1%). This loss results from inflammation secondary to chronic bacterial infections, particularly Pseudomonas aeruginosa, methicillin-sensitive Staphylococcus aureus (MSSA) and members of the virulent Burkholderia complex. The model tracks FEV1% and carriage of these three bacteria over the course of a patient's life. Analysis of patient state changes from year to year reveals four feedback loops: a damaging positive feedback loop between P. aeruginosa carriage and lower FEV1%, negative feedback loops between P. aeruginosa and MSSA and between P. aeruginosa and Burkholderia, and a protective positive feedback loop between MSSA carriage and higher FEV1%. The partial differential equations built from this data analysis accurately capture the life-long progression of the disease, quantify the key role of high annual FEV1% variability in reducing survivorship, the relative unimportance of short-term bacterial interactions for long-term survival, and the potential benefits of eradicating the most harmful bacteria. PMID:27248696

  8. Cholecystokinin cholescintigraphic findings in the cystic duct syndrome

    SciTech Connect

    Fink-Bennett, D.; DeRidder, P.; Kolozsi, W.; Gordon, R.; Rapp, J.

    1985-10-01

    Fourteen patients with a cystic duct syndrome (CDS) underwent cholecystokinin (CCK) cholescintigraphy. All patients presented with persistent postprandial right upper quadrant pain and biliary colic. None of the patients had an abnormal oral cholecystography, gallbladder (GB) ultrasound exam or upper GI series. Each patient received 5 mCi of technetium-99m disofenin. When the GB maximally filled, 0.02 microgram/kg CCK was administered (3 min) intravenously. Background corrected gallbladder ejection fractions (GBEFs) were determined every 5 min X 4 by rationing the pre-CCK GB counts minus post-CCK GB counts to pre-CCK GB counts. GBEFs were: 12% (3 patients), 17% (2), 0%, 1.3%, 3%, 4%, 6%, 11%, 14%, 18.5%, and 22% (1 each). All patients underwent a surgical exploration and all had macro- or microscopically abnormal cystic ducts with (12 patients) or without (2 patients) concomitant chronic cholecystitis. No patient with a partially occluded cystic duct with or without concomitant chronic cholecystitis had an ejection fraction that exceeded 22%. In an appropriate clinical setting, a low EF response to CCK should alert the physician to the presence of either chronic acalculous cholecystitis, CDS, or the combination of both.

  9. Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis*

    PubMed Central

    Coutinho, Cyntia Arivabeni de Araújo Correia; Marson, Fernando Augusto de Lima; Ribeiro, Antônio Fernando; Ribeiro, José Dirceu; Bertuzzo, Carmen Silvia

    2013-01-01

    OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were female, and 94.29% were White. Mutation screening was performed with polymerase chain reaction (for F508del), followed by enzymatic digestion (for other mutations). Clinical analysis was performed on the basis of gender, age, ethnicity, pulmonary/gastrointestinal symptoms, and Shwachman-Kulczycki (SK) score. RESULTS: All of the patients showed pulmonary symptoms, and 8 had no gastrointestinal symptoms. On the basis of the SK scores, CF was determined to be mild, moderate, and severe in 22 (42.3%), 17 (32.7%), and 13 (25.0%) of the patients, respectively. There was no association between F508del mutation and disease severity by SK score. Of the 140 alleles analyzed, F508del mutation was identified in 70 (50%). Other mutations (G542X, G551D, R553X, R1162X, and N1303K) were identified in 12 (7.93%) of the alleles studied. In F508del homozygous patients with severe disease, the OR was 0.124 (95% CI: 0.005-0.826). CONCLUSIONS: In 50% of the alleles studied, the molecular diagnosis of CF was confirmed by identifying a single mutation (F508del). If we consider the analysis of the six most common mutations in the Brazilian population (including F508del), the molecular diagnosis was confirmed in 58.57% of the alleles studied. PMID:24310628

  10. Safety of Chemotherapeutic Infusion or Chemoembolization for Hepatocellular Carcinoma Supplied Exclusively by the Cystic Artery

    SciTech Connect

    Kang, Beomsik Kim, Hyo-Cheol Chung, Jin Wook Hur, Saebeom Joo, Seung-Moon Jae, Hwan Jun Park, Jae Hyung

    2013-10-15

    Purpose: This study was designed to evaluate the safety of chemotherapeutic infusion or chemoembolization by way of the cystic artery in patients with hepatocellular carcinoma (HCC) supplied exclusively by the cystic artery. Methods: Between Jan 2002 and Dec 2011, we performed chemotherapeutic infusion or chemoembolization using iodized oil for the treatment of 27 patients with HCC supplied exclusively by the cystic artery. Computed tomography (CT) scans, digital subtraction angiograms, and medical records were retrospectively reviewed by consensus. Results: The cystic artery originated from the main right hepatic artery in 24 (89 %) patients, from the right anterior hepatic artery in 2 (7 %) patients, and from the left hepatic artery in 1 (4 %) patient. Selective catheterization of the cystic artery was achieved in all patients. Superselection of tumor-feeding vessels from the cystic artery was achieved in 7 patients (26 %). Chemotherapeutic infusion was performed in 18 patients (67 %), and chemoembolization was performed in 9 patients (33 %). There were no major complications and only 2 minor complications, including vasovagal syncope and nausea with vomiting. Individual tumor response supplied exclusively by the cystic artery at the follow-up enhanced CT scan were complete response (n = 16), partial response (n = 3), and stable disease (n = 8). Conclusion: HCC supplied exclusively by the cystic artery can be safely treated without severe complications by chemotherapeutic infusion or chemoembolization using iodized oil through the cystic artery.

  11. Cystic fibrosis transmembrane conductance regulator protein expression in the male excretory duct system during development.

    PubMed

    Marcorelles, Pascale; Gillet, Danièle; Friocourt, Gaëlle; Ledé, Françoise; Samaison, Laura; Huguen, Geneviève; Ferec, Claude

    2012-03-01

    Sterility due to bilateral destruction in utero or in early infancy resulting in congenital absence of the vas deferens is the rule in male patients with cystic fibrosis. To understand the developmental pattern of this anomaly, the microscopic morphology of the male excretory system was analyzed during development and the expression of the cystic fibrosis transmembrane conductance regulator protein was explored by immunohistochemistry. We observed that cystic fibrosis fetuses had no excretory ducts agenesis or obstruction until 22 weeks of gestation. However, a focal inflammatory pattern and mucinous plugs in the oldest cystic fibrosis case suggested a disruptive mechanism. Immunolabeling of cytoplasmic epithelial cystic fibrosis transmembrane conductance regulator protein was demonstrated in all cystic fibrosis and control cases with a similar pattern of expression of the protein between age-matched controls and cystic fibrosis cases. At midgestation, an apical intensification appeared in both cystic fibrosis and control cases and was stable during the remainder of fetal life. No gradient of intensity could be detected between the different segments of the excretory tract. These findings are different from those reported in adults. The absence of any morphologic anomaly until 22 weeks of gestation, the focal destruction of the epithelial structures during the second trimester, and the chronological pattern of expression of cystic fibrosis transmembrane conductance regulator are of interest for a better understanding of the pathophysiology of this disease.

  12. A Case of Laparoscopic Excision of a Huge Retroperitoneal Cystic Lymphangioma

    PubMed Central

    Yagihashi, Yusuke; Kato, Keiji; Nagahama, Kanji; Yamamoto, Masakazu; Kanamaru, Hiroshi

    2011-01-01

    Retroperitoneal cystic lymphangioma is a rare benign tumor. Most patients eventually experience some symptoms that necessitate therapeutic intervention. Excision is the treatment of choice, and some cases of laparoscopic resection have been reported. We report another case of a huge retroperitoneal cystic lymphangioma that was successfully excised laparoscopically with the SAND balloon catheter. Large cystic lymphangioma was downsized by puncturing and aspirated with the SAND balloon catheter. Laparoscopic surgical technique should be considered for treatment of selected cystic lesions of retroperitoneal origin. PMID:22606623

  13. Cystic versus solid vestibular schwannomas: a series of 80 grade III-IV patients.

    PubMed

    Benech, Franco; Perez, Rosa; Fontanella, Marco Maria; Morra, Bruno; Albera, Roberto; Ducati, Alessandro

    2005-07-01

    Cystic acoustic neuromas are less frequent than solid ones and present different clinical and radiological features. Cystic schwannomas are larger, show a shorter clinical history and a different risk of postoperative complications. This study was designed to compare surgical results and complications of solid and cystic vestibular schwannomas of matching size operated upon via either a retrosygmoid or a translabyrinthine approach. The study included 80 patients presenting with grade III and IV acoustic vestibular schwannomas referred to the Neurosurgical and ENT team in the Department of Neuroscience of Torino, Italy. Twenty-six were cystic and 54 were solid tumours. Clinical history, surgical results and complications were compared between the two groups. In cystic tumors, rapid clinical worsening is common, due to sudden expansion of cystic elements. Tighter adherences are found between cystic tumours and nervous elements (particularly brainstem and possibly facial nerve), once compared to solid ones. Operative morbidity appears to be higher in cystic tumours. A wait and see policy should not to be applied to patients with cystic tumours. Careful technique, possibly sharp dissection, to divide the tumour adherences from the nervous tissue must be employed, in order to avoid lesions on brainstem veins and traction on a thin facial nerve. Severe complications may be caused by the excessive efforts to dissect brainstem adherences.

  14. Solid-cystic (papillary-cystic) tumours within and outside the pancreas in men: report of two patients.

    PubMed

    Klöppel, G; Maurer, R; Hofmann, E; Lüthold, K; Oscarson, J; Forsby, N; Ihse, I; Ljungberg, O; Heitz, P U

    1991-01-01

    Solid-cystic (papillary-cystic) tumours (SCT) of the pancreas are distinctive neoplasms with a predilection for young female patients. This is the first detailed report describing the occurrence of SCT in two young male patients. Except for the extapancreatic occurrence of one of the tumours (in the retroperitoneal region behind the head of the pancreas), all other clinicopathological features were identical to those characterizing the SCT in women. Immunostaining was (at least focally) positive for Lu 5 (broad spectrum keratin marker), vimentin and alpha-1-antitrypsin. The tumours were negative for neuroendocrine markers (except for neuron-specific enolase), pancreatic hormones and enzymes, pancreatic stone protein, carcinoembryonic antigen, CA 19-9 and nuclear oestrogen and progesterone receptors. This report does not support the suggested female sex hormone dependence of SCT.

  15. General implementation of the resolution-of-the-identity and Cholesky representations of electron repulsion integrals within coupled-cluster and equation-of-motion methods: Theory and benchmarks

    NASA Astrophysics Data System (ADS)

    Epifanovsky, Evgeny; Zuev, Dmitry; Feng, Xintian; Khistyaev, Kirill; Shao, Yihan; Krylov, Anna I.

    2013-10-01

    We present a general implementation of the resolution-of-the-identity (RI) and Cholesky decomposition (CD) representations of electron repulsion integrals within the coupled-cluster with single and double substitutions (CCSD) and equation-of-motion (EOM) family of methods. The CCSD and EOM-CCSD equations are rewritten to eliminate the storage of the largest four-index intermediates leading to a significant reduction in disk storage requirements, reduced I/O penalties, and, as a result, improved parallel performance. In CCSD, the number of rate-determining contractions is also reduced; however, in EOM the number of operations is increased because the transformed integrals, which are computed once in the canonical implementation, need to be reassembled at each Davidson iteration. Nevertheless, for large jobs the effect of the increased number of rate-determining contractions is surpassed by the significantly reduced memory and disk usage leading to a considerable speed-up. Overall, for medium-size examples, RI/CD CCSD calculations are approximately 40% faster compared with the canonical implementation, whereas timings of EOM calculations are reduced by a factor of two. More significant speed-ups are obtained in larger bases, i.e., more than a two-fold speed-up for CCSD and almost five-fold speed-up for EOM-EE-CCSD in cc-pVTZ. Even more considerable speedups (6-7-fold) are achieved by combining RI/CD with the frozen natural orbitals approach. The numeric accuracy of RI/CD approaches is benchmarked with an emphasis on energy differences. Errors in EOM excitation, ionization, and electron-attachment energies are less than 0.001 eV with typical RI bases and with a 10-4 threshold in CD. Errors with 10-2 and 10-3 thresholds, which afford more significant computational savings, are less than 0.04 and 0.008 eV, respectively.

  16. SU-D-204-05: Quantitative Comparison of a High Resolution Micro-Angiographic Fluoroscopic (MAF) Detector with a Standard Flat Panel Detector (FPD) Using the New Metric of Generalized Measured Relative Object Detectability (GM-ROD)

    SciTech Connect

    Russ, M; Ionita, C; Bednarek, D; Rudin, S

    2015-06-15

    Purpose: In endovascular image-guided neuro-interventions, visualization of fine detail is paramount. For example, the ability of the interventionist to visualize the stent struts depends heavily on the x-ray imaging detector performance. Methods: A study to examine the relative performance of the high resolution MAF-CMOS (pixel size 75µm, Nyquist frequency 6.6 cycles/mm) and a standard Flat Panel Detector (pixel size 194µm, Nyquist frequency 2.5 cycles/mm) detectors in imaging a neuro stent was done using the Generalized Measured Relative Object Detectability (GM-ROD) metric. Low quantum noise images of a deployed stent were obtained by averaging 95 frames obtained by both detectors without changing other exposure or geometric parameters. The square of the Fourier transform of each image is taken and divided by the generalized normalized noise power spectrum to give an effective measured task-specific signal-to-noise ratio. This expression is then integrated from 0 to each of the detector’s Nyquist frequencies, and the GM-ROD value is determined by taking a ratio of the integrals for the MAF-CMOS to that of the FPD. The lower bound of integration can be varied to emphasize high frequencies in the detector comparisons. Results: The MAF-CMOS detector exhibits vastly superior performance over the FPD when integrating over all frequencies, yielding a GM-ROD value of 63.1. The lower bound of integration was stepped up in increments of 0.5 cycles/mm for higher frequency comparisons. As the lower bound increased, the GM-ROD value was augmented, reflecting the superior performance of the MAF-CMOS in the high frequency regime. Conclusion: GM-ROD is a versatile metric that can provide quantitative detector and task dependent comparisons that can be used as a basis for detector selection. Supported by NIH Grant: 2R01EB002873 and an equipment grant from Toshiba Medical Systems Corporation.

  17. 21 CFR 314.103 - Dispute resolution.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 5 2010-04-01 2010-04-01 false Dispute resolution. 314.103 Section 314.103 Food... Applications § 314.103 Dispute resolution. (a) General. FDA is committed to resolving differences between... application. If resolution is not achieved, the applicant may raise the matter with the person designated...

  18. The quest for ultimate super resolution

    NASA Astrophysics Data System (ADS)

    Hemmer, Philip; Ben-Benjamin, Jonathan Samuel

    2016-09-01

    With the wealth of super-resolution techniques available in the literature it is useful to provide a succinct review of the general concepts involved in the different schemes. In this paper we group super-resolution schemes into several broad categories to simplify comparison, and to elucidate the factors limiting their respective resolutions.

  19. [Cystic Fibrosis Cloud database: An information system for storage and management of clinical and microbiological data of cystic fibrosis patients].

    PubMed

    Prieto, Claudia I; Palau, María J; Martina, Pablo; Achiary, Carlos; Achiary, Andrés; Bettiol, Marisa; Montanaro, Patricia; Cazzola, María L; Leguizamón, Mariana; Massillo, Cintia; Figoli, Cecilia; Valeiras, Brenda; Perez, Silvia; Rentería, Fernando; Diez, Graciela; Yantorno, Osvaldo M; Bosch, Alejandra

    2016-01-01

    The epidemiological and clinical management of cystic fibrosis (CF) patients suffering from acute pulmonary exacerbations or chronic lung infections demands continuous updating of medical and microbiological processes associated with the constant evolution of pathogens during host colonization. In order to monitor the dynamics of these processes, it is essential to have expert systems capable of storing and subsequently extracting the information generated from different studies of the patients and microorganisms isolated from them. In this work we have designed and developed an on-line database based on an information system that allows to store, manage and visualize data from clinical studies and microbiological analysis of bacteria obtained from the respiratory tract of patients suffering from cystic fibrosis. The information system, named Cystic Fibrosis Cloud database is available on the http://servoy.infocomsa.com/cfc_database site and is composed of a main database and a web-based interface, which uses Servoy's product architecture based on Java technology. Although the CFC database system can be implemented as a local program for private use in CF centers, it can also be used, updated and shared by different users who can access the stored information in a systematic, practical and safe manner. The implementation of the CFC database could have a significant impact on the monitoring of respiratory infections, the prevention of exacerbations, the detection of emerging organisms, and the adequacy of control strategies for lung infections in CF patients.

  20. Considerations for the Conduct of Clinical Trials with Antiinflammatory Agents in Cystic Fibrosis. A Cystic Fibrosis Foundation Workshop Report.

    PubMed

    Torphy, Theodore J; Allen, Janet; Cantin, André M; Konstan, Michael W; Accurso, Frank J; Joseloff, Elizabeth; Ratjen, Felix A; Chmiel, James F

    2015-09-01

    Inflammation leads to lung destruction and loss of pulmonary function in patients with cystic fibrosis (CF). Drugs that modulate the cystic fibrosis transmembrane conductance regulator (CFTR) have recently been approved. Although the impact of CFTR modulators on sweat chloride and lung function are exciting, they have not yet demonstrated an effect on inflammation. Therefore, CF antiinflammatory drug development must continue. Unfortunately, the lack of clarity with this process has left investigators and industry sponsors frustrated. The Cystic Fibrosis Foundation established a working group in early 2014 to address this issue. There are many inflammatory processes disrupted in CF, and, therefore, there are many potential targets amenable to antiinflammatory therapy. Regardless of a drug's specific mechanism of action, it must ultimately affect the neutrophil or its products to impact CF. The working group concluded that before bringing new antiinflammatory drugs to clinical trial, preclinical safety studies must be conducted in disease-relevant models to assuage safety concerns. Furthermore, although studies of antiinflammatory therapies must first establish safety in adults, subsequent studies must involve children, as they are most likely to reap the most benefit. The working group also recommended that pharmacokinetic-pharmacodynamic studies and early-phase safety studies be performed before proceeding to larger studies of longer duration. In addition, innovative study designs may improve the likelihood of adequately assessing treatment response and mitigating risk before conducting multiyear studies. Learning from past experiences and incorporating this knowledge into new drug development programs will be instrumental in bringing new antiinflammatory therapies to patients.

  1. [Cystic Fibrosis Cloud database: An information system for storage and management of clinical and microbiological data of cystic fibrosis patients].

    PubMed

    Prieto, Claudia I; Palau, María J; Martina, Pablo; Achiary, Carlos; Achiary, Andrés; Bettiol, Marisa; Montanaro, Patricia; Cazzola, María L; Leguizamón, Mariana; Massillo, Cintia; Figoli, Cecilia; Valeiras, Brenda; Perez, Silvia; Rentería, Fernando; Diez, Graciela; Yantorno, Osvaldo M; Bosch, Alejandra

    2016-01-01

    The epidemiological and clinical management of cystic fibrosis (CF) patients suffering from acute pulmonary exacerbations or chronic lung infections demands continuous updating of medical and microbiological processes associated with the constant evolution of pathogens during host colonization. In order to monitor the dynamics of these processes, it is essential to have expert systems capable of storing and subsequently extracting the information generated from different studies of the patients and microorganisms isolated from them. In this work we have designed and developed an on-line database based on an information system that allows to store, manage and visualize data from clinical studies and microbiological analysis of bacteria obtained from the respiratory tract of patients suffering from cystic fibrosis. The information system, named Cystic Fibrosis Cloud database is available on the http://servoy.infocomsa.com/cfc_database site and is composed of a main database and a web-based interface, which uses Servoy's product architecture based on Java technology. Although the CFC database system can be implemented as a local program for private use in CF centers, it can also be used, updated and shared by different users who can access the stored information in a systematic, practical and safe manner. The implementation of the CFC database could have a significant impact on the monitoring of respiratory infections, the prevention of exacerbations, the detection of emerging organisms, and the adequacy of control strategies for lung infections in CF patients. PMID:26895996

  2. Resolution in Photovoltaic Potential Computation

    NASA Astrophysics Data System (ADS)

    Alam, N.; Coors, V.; Zlatanova, S.; Oosterom, P. J. M.

    2016-09-01

    In this paper, an analysis of the effect of the various types of resolution involved in photovoltaic potential computation is presented. To calculate solar energy incident on a surface, shadow from surrounding buildings has been considered. The incident energy on a surface has been calculated taking the orientation, tilt and position into consideration. Different sky visibility map has been created for direct and diffuse radiation and only the effect of resolution of the factors has been explored here. The following four resolutions are considered: 1. temporal resolution (1, 10, 60 minutes time interval for calculating visibility of sun), 2. object surface resolution (0.01, 0.1, 0.375, 0.75, 1.25, 2.5 and 5 m2 as maximum triangle size of a surface to be considered), 3. blocking obstacle resolution (number of triangles from LoD1, LoD2, or LoD3 CityGML building models), and 4. sky resolution (ranging from 150 to 600 sky-patches used to divide the sky-dome). Higher resolutions result in general in more precise estimation of the photovoltaic potential, but also the computation time is increasing, especially as realizes that this computation has to be done for every building with its object surface (both roofs and façades). This paper is the first in depth analysis ever of the effect of resolution and will help to configure the proper settings for effective photovoltaic potential computations.

  3. Bone health and disease in cystic fibrosis.

    PubMed

    Marquette, Malcolm; Haworth, Charles S

    2016-08-01

    Low bone mineral density is common in children and adults with CF. It has a multifactorial aetiology that includes direct effects of CFTR dysfunction on bone cell activity, as well as the secondary effects of CFTR dysfunction including pancreatic insufficiency (leading to malnutrition/malabsorption of fat soluble vitamins) and pulmonary infection (leading to systemic inflammation and increased bone resorption). Strategies to improve bone health in CF include optimising general CF nutritional and pulmonary care and the judicious use of bisphosphonates in selected patients. CFTR correctors/potentiators may have positive impact on bone metabolism in people with CF. PMID:27461283

  4. Assessing resolution in super-resolution imaging.

    PubMed

    Demmerle, Justin; Wegel, Eva; Schermelleh, Lothar; Dobbie, Ian M

    2015-10-15

    Resolution is a central concept in all imaging fields, and particularly in optical microscopy, but it can be easily misinterpreted. The mathematical definition of optical resolution was codified by Abbe, and practically defined by the Rayleigh Criterion in the late 19th century. The limit of conventional resolution was also achieved in this period, and it was thought that fundamental constraints of physics prevented further increases in resolution. With the recent development of a range of super-resolution techniques, it is necessary to revisit the concept of optical resolution. Fundamental differences in super-resolution modalities mean that resolution is not a directly transferrable metric between techniques. This article considers the issues in resolution raised by these new technologies, and presents approaches for comparing resolution between different super-resolution methods.

  5. 77 FR 49450 - Issues in the Design of Clinical Trials of Antibacterial Drugs for the Treatment of Non-Cystic...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-16

    ... Drugs for the Treatment of Non-Cystic Fibrosis Bronchiectasis; Public Workshop AGENCY: Food and Drug... treatment of non-cystic fibrosis (non-CF) bronchiectasis. This public workshop is intended to...

  6. Surgical management of renal cystic disease.

    PubMed

    Agarwal, Mayank Mohan; Hemal, Ashok K

    2011-02-01

    The kidney is one of the most common sites for cyst in the body (prevalence about 5%). Symptomatic or incidental cyst needs to be characterized further based on Bosniak classification as simple (Bosniak type I & II) or complex (Bosniak type III & IV) cysts with respect to risk of malignancy or other effects on the kidney. The management of simple cysts is entirely for its symptoms or complications (eg, hemorrhage, infection, hydronephrosis, and hypertension). Percutaneous aspiration alone or with sclerotherapy often is the first-line treatment. Surgical decortication generally is reserved for recurrent or very large symptomatic cysts. Laparoscopic surgery is highly efficacious and is associated with high satisfaction rates with minimal morbidity. Retroperitoneal approach is generally preferred, especially in infected or hydatid renal cyst to avoid spillage or contamination of virgin peritoneal cavity. Cyst decortication seems to be an appropriate indication for newer-emerging single-port laparoscopic approaches such as natural orifice transluminal endoscopic surgery, single-incision laparoscopic surgery, or laparoendoscopic single-site surgery. Where available, robot-assisted surgical management can supplant pure laparoscopic management for complex cysts, hydatid cyst, peripelvic cyst, and autosomal dominant polycystic kidney disease without any outstanding benefits, but with added cost, when robot is used.

  7. Cytopathological Analysis of Cyst Fluid Enhances Diagnostic Accuracy of Mucinous Pancreatic Cystic Neoplasms.

    PubMed

    Utomo, Wesley K; Braat, Henri; Bruno, Marco J; van Eijck, Casper H J; Groot Koerkamp, Bas; Krak, Nanda C; van de Vreede, Adriaan; Fuhler, Gwenny M; Peppelenbosch, Maikel P; Biermann, Katharina

    2015-06-01

    Widespread use of cross-sectional imaging and increasing age of the general population has increased the number of detected pancreatic cystic lesions. However, several pathological entities with a variety in malignant potential have to be discriminated to allow clinical decision making. Discrimination between mucinous pancreatic cystic neoplasms (PCNs) and nonmucinous pancreatic lesions is the primary step in the clinical work-up, as malignant transformation is mostly associated with mucinous PCN. We performed a retrospective analysis of all resected PCN in our tertiary center from 2000 to 2014, to evaluate preoperative diagnostic performance and the results of implementation of the consensus guidelines over time. This was followed by a prospective cohort study of patients with an undefined pancreatic cyst, where the added value of cytopathological mucin evaluation to carcinoembryonic antigen (CEA) in cyst fluid for the discrimination of mucinous PCN and nonmucinous cysts was investigated. Retrospective analysis showed 115 patients operated for a PCN, with a correct preoperative classification in 96.2% of the patients. High-grade dysplasia or invasive carcinoma was observed in only 32.3% of mucinous PCN. In our prospective cohort (n = 71), 57.7% of patients were classified as having a mucinous PCN. CEA ≥ 192 ng/mL had an accuracy of 63.4%, and cytopathological mucin evaluation an accuracy of 73.0%. Combining these 2 tests further improved diagnostic accuracy of a mucinous PCN to 76.8%. CEA level and mucin evaluation were not predictive of the degree of dysplasia. These findings show that adding cytopathology to cyst fluid biochemistry improves discrimination between mucinous PCN and nonmucinous cysts.

  8. A subset of prostatic basal cell carcinomas harbor the MYB rearrangement of adenoid cystic carcinoma.

    PubMed

    Bishop, Justin A; Yonescu, Raluca; Epstein, Jonathan I; Westra, William H

    2015-08-01

    Adenoid cystic carcinoma (ACC) is a basaloid tumor consisting of myoepithelial and ductal cells typically arranged in a cribriform pattern. Adenoid cystic carcinoma is generally regarded as a form of salivary gland carcinoma, but it can arise from sites unassociated with salivary tissue. A rare form of prostate carcinoma exhibits ACC-like features; it is no longer regarded as a true ACC but rather as prostatic basal cell carcinoma (PBCC) and within the spectrum of basaloid prostatic proliferations. True ACCs often harbor MYB translocations resulting in the MYB-NFIB fusion protein. MYB analysis could clarify the true nature of prostatic carcinomas that exhibit ACC features and thus help refine the classification of prostatic basaloid proliferations. Twelve PBCCs were identified from the pathology consultation files of Johns Hopkins Hospital. The histopathologic features were reviewed, and break-apart fluorescence in situ hybridization for MYB was performed. All 12 cases exhibited prominent basaloid histology. Four were purely solid, 7 exhibited a cribriform pattern reminiscent of salivary ACC, and 1 had a mixed pattern. The MYB rearrangement was detected in 2 (29%) of 7 ACC-like carcinomas but in none (0%) of the 5 PBCCs with a prominent solid pattern. True ACCs can arise in the prostate as is evidenced by the presence of the characteristic MYB rearrangement. When dealing with malignant basaloid proliferations in the prostate, recommendations to consolidate ACCs with other tumor types may need to be reassessed, particularly in light of the rapidly advancing field of biologic therapy where the identification of tumor-specific genetic alterations presents novel therapeutic targets.

  9. Global Analysis of the Fungal Microbiome in Cystic Fibrosis Patients Reveals Loss of Function of the Transcriptional Repressor Nrg1 as a Mechanism of Pathogen Adaptation.

    PubMed

    Kim, Sang Hu; Clark, Shawn T; Surendra, Anuradha; Copeland, Julia K; Wang, Pauline W; Ammar, Ron; Collins, Cathy; Tullis, D Elizabeth; Nislow, Corey; Hwang, David M; Guttman, David S; Cowen, Leah E

    2015-11-01

    , providing a poignant example of parallel evolution. Together, this combined clinical-genomic approach provides a high-resolution portrait of the fungal microbiome of cystic fibrosis patient lungs and identifies a genetic basis of pathogen adaptation.

  10. Global Analysis of the Fungal Microbiome in Cystic Fibrosis Patients Reveals Loss of Function of the Transcriptional Repressor Nrg1 as a Mechanism of Pathogen Adaptation

    PubMed Central

    Kim, Sang Hu; Clark, Shawn T.; Surendra, Anuradha; Copeland, Julia K.; Wang, Pauline W.; Ammar, Ron; Collins, Cathy; Tullis, D. Elizabeth; Nislow, Corey; Hwang, David M.; Guttman, David S.; Cowen, Leah E.

    2015-01-01

    , providing a poignant example of parallel evolution. Together, this combined clinical-genomic approach provides a high-resolution portrait of the fungal microbiome of cystic fibrosis patient lungs and identifies a genetic basis of pathogen adaptation. PMID:26588216

  11. Superfine resolution acoustooptic spectrum analysis

    NASA Technical Reports Server (NTRS)

    Ansari, Homayoon; Lesh, James R.

    1991-01-01

    High resolution spectrum analysis of RF signals is required in applications such as the search for extraterrestrial intelligence, RF interference monitoring, or general purpose decomposition of signals. Sub-Hertz resolution in three-dimensional acoustooptic spectrum analysis is theoretically and experimentally demonstrated. The operation of a two-dimensional acoustooptic spectrum analyzer is extended to include time integration over a sequence of CCD frames.

  12. Cystic and Papillary Neoplasm at the Hepatic Hilum Possibly Originating in the Peribiliary Glands

    PubMed Central

    Miyata, Takashi; Uesaka, Katsuhiko

    2016-01-01

    Cystic neoplasms of the liver are divided into two types: mucinous cystic neoplasm and cystic intraductal papillary neoplasm of the bile duct. We herein report two cases of cystic and papillary neoplasm of the liver which differed from the abovementioned types. Case  1. A 70-year-old man. Radiologically, a cystic tumor measuring 20 mm in diameter was found at the hepatic hilum. Right hepatectomy was performed under a diagnosis of intrahepatic cholangiocarcinoma (iCCA) based on the imaging findings. Case  2. A 70-year-old man. Radiologically, a cystic tumor measuring 60 mm in diameter was found at the hepatic hilum. Under a diagnosis of iCCA, left hepatic trisectionectomy was performed. In both cases, endoscopic retrograde cholangiography did not demonstrate communication between the cystic tumor and adjacent bile ducts. Pathologically, these two tumors were cystic neoplasms located at the hepatic hilum and were morphologically characterized by an intracystic papillary neoplasm composed of diffuse high-grade dysplasia and associated with an invasive carcinoma. Ovarian-like stroma was not found in the capsule of these tumors. Interestingly, there were peribiliary glands near these tumors, and MUC6 was expressed in these papillary neoplasms as well as in the peribiliary glands. These neoplasms might have arisen from the peribiliary glands. PMID:27656307

  13. Cystic and Papillary Neoplasm at the Hepatic Hilum Possibly Originating in the Peribiliary Glands

    PubMed Central

    Miyata, Takashi; Uesaka, Katsuhiko

    2016-01-01

    Cystic neoplasms of the liver are divided into two types: mucinous cystic neoplasm and cystic intraductal papillary neoplasm of the bile duct. We herein report two cases of cystic and papillary neoplasm of the liver which differed from the abovementioned types. Case  1. A 70-year-old man. Radiologically, a cystic tumor measuring 20 mm in diameter was found at the hepatic hilum. Right hepatectomy was performed under a diagnosis of intrahepatic cholangiocarcinoma (iCCA) based on the imaging findings. Case  2. A 70-year-old man. Radiologically, a cystic tumor measuring 60 mm in diameter was found at the hepatic hilum. Under a diagnosis of iCCA, left hepatic trisectionectomy was performed. In both cases, endoscopic retrograde cholangiography did not demonstrate communication between the cystic tumor and adjacent bile ducts. Pathologically, these two tumors were cystic neoplasms located at the hepatic hilum and were morphologically characterized by an intracystic papillary neoplasm composed of diffuse high-grade dysplasia and associated with an invasive carcinoma. Ovarian-like stroma was not found in the capsule of these tumors. Interestingly, there were peribiliary glands near these tumors, and MUC6 was expressed in these papillary neoplasms as well as in the peribiliary glands. These neoplasms might have arisen from the peribiliary glands.

  14. A Rare Anomaly of Biliary System: MRCP Evidence of a Cystic Duct Cyst.

    PubMed

    Goya, Cemil; Arslan, Mehmet Serif; Yavuz, Alpaslan; Hamidi, Cihad; Kuday, Suzan; Okur, Mehmet Hanifi; Aydogdu, Bahattin

    2014-01-01

    Cystic duct cysts are a rare congenital anomaly. While the other bile duct cysts (choledochus and the intrahepatic bile ducts) are classified according to the classification described by Tadoni, there is no classification method described by the cystic duct cysts, although it is claimed that the cystic duct cysts may constitute a new "Type 6" category. Only a limited number of patients with cystic duct cysts have been reported in the literature. The diagnosis is usually made in the neonatal period or during childhood. The clinical symptoms are nonspecific and usually include pain in the right upper quadrant and jaundice. The condition may also present with biliary colic, cholangitis, cholelithiasis, or pancreatitis. In our case, the abdominal ultrasonography (US) performed on a 6-year-old female patient who presented with pain in the right upper quadrant pointed out an anechoic cyst at the neck of the gall bladder. Based on the magnetic resonance cholangiopancreatography (MRCP) results, a cystic dilatation was diagnosed in the cystic duct. The aim of this case-report presentation was to discuss the US and MRCP findings of the cystic dilatation of cystic duct, which is an extremely rare condition, in the light of the literature information. PMID:24987540

  15. Cystic tumors of the fetal and neonatal cerebrum: ultrasound and computed tomographic evaluation

    SciTech Connect

    Sauerbrei, E.E.; Cooperberg, P.L.

    1983-06-01

    Three patients (two infants and one fetus) had complex (partially cystic and partially solid) supratentorial tumors involving the brain. The sonographic and computed tomographic appearance in each of these lesions is described and discussed. The cystic component of each lesion was equally well delineated by the two modalities, whereas the peripheral solid component was better defined by contrast-enhanced computed tomographic scans.

  16. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  17. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  18. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  19. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  20. Pseudomonas infection and mucociliary and absorptive clearance in the cystic fibrosis lung.

    PubMed

    Locke, Landon W; Myerburg, Michael M; Weiner, Daniel J; Markovetz, Matthew R; Parker, Robert S; Muthukrishnan, Ashok; Weber, Lawrence; Czachowski, Michael R; Lacy, Ryan T; Pilewski, Joseph M; Corcoran, Timothy E

    2016-05-01

    Airway surface liquid hyperabsorption and mucus accumulation are key elements of cystic fibrosis lung disease that can be assessed in vivo using functional imaging methods. In this study we evaluated experimental factors affecting measurements of mucociliary clearance (MCC) and small-molecule absorption (ABS) and patient factors associated with abnormal absorption and mucus clearance.Our imaging technique utilises two radiopharmaceutical probes delivered by inhalation. Measurement repeatability was assessed in 10 adult cystic fibrosis subjects. Experimental factors were assessed in 29 adult and paediatric cystic fibrosis subjects (51 scans). Patient factors were assessed in a subgroup with optimal aerosol deposition (37 scans; 24 subjects). Paediatric subjects (n=9) underwent initial and 2-year follow-up scans. Control subjects from a previously reported study are included for comparison.High rates of central aerosol deposition influenced measurements of ABS and, to a lesser extent, MCC. Depressed MCC in cystic fibrosis was only detectable in subjects with previous Pseudomonas aeruginosa infection. Cystic fibrosis subjects without P. aeruginosa had similar MCC to control subjects. Cystic fibrosis subjects had consistently higher ABS rates.We conclude that the primary experimental factor affecting MCC/ABS measurements is central deposition percentage. Depressed MCC in cystic fibrosis is associated with P. aeruginosa infection. ABS is consistently increased in cystic fibrosis.

  1. Self-Efficacy, Pulmonary Function, Perceived Health and Global Quality of Life of Cystic Fibrosis Patients

    ERIC Educational Resources Information Center

    Wahl, Astrid K.; Rustoen ,Tone; Hanestad, Berit R.; Gjengedal, Eva; Moum, Torbjorn

    2005-01-01

    This study examined the extent that pulmonary function is related to perceived health status and global quality of life in adults suffering from cystic fibrosis, and the extent that self-efficacy modifies these relationships. Our sample comprised 86 adults (48% female; mean age, 29 years; age range, 18-54 years) with cystic fibrosis, recruited…

  2. Rapid increase in cystic volume of an anaplastic astrocytoma misdiagnosed as neurocysticercosis: A case report

    PubMed Central

    Li, Hong-Jiang; Han, Hong-Xiu; Feng, Dong-Fu

    2016-01-01

    Reports describing a rapid increase in the cystic volume of anaplastic astrocytoma (AA) in a short time frame are rare. The present study reports the case of a 68-year-old male who was admitted to the No. 9 People's Hospital, Shanghai Jiaotong University School of Medicine (Shanghai, China), with a small cystic brain lesion and positive immunological testing for cysticercosis. Head magnetic resonance imaging (MRI) showed a cystic lesion, 6 mm in diameter, in the left frontal lobe. Neurocysticercosis was suspected and the patient was treated with a clinical trial of albendazole and steroids. A period of 25 days later, the patient's condition had deteriorated, and MRI revealed a cystic lesion in the left frontal lobe; thereafter, the cystic lesion was removed and a diagnosis of AA was established. The tumor was soft, ivory white and gelatinous due to myxoid degeneration. In this case, tumor-related angiogenesis and microvascular extravasation (blood-brain barrier disruption) may have been the main cause of the rapid increase in the cystic volume in such a short time frame. The similarity of the glioma and cysticercus antigens may have been the cause of the positive reactions in the cystic fluid. The present study reports the rare occurrence of a rapid increase of cystic volume and potential diagnostic difficulties.

  3. Rapid increase in cystic volume of an anaplastic astrocytoma misdiagnosed as neurocysticercosis: A case report

    PubMed Central

    Li, Hong-Jiang; Han, Hong-Xiu; Feng, Dong-Fu

    2016-01-01

    Reports describing a rapid increase in the cystic volume of anaplastic astrocytoma (AA) in a short time frame are rare. The present study reports the case of a 68-year-old male who was admitted to the No. 9 People's Hospital, Shanghai Jiaotong University School of Medicine (Shanghai, China), with a small cystic brain lesion and positive immunological testing for cysticercosis. Head magnetic resonance imaging (MRI) showed a cystic lesion, 6 mm in diameter, in the left frontal lobe. Neurocysticercosis was suspected and the patient was treated with a clinical trial of albendazole and steroids. A period of 25 days later, the patient's condition had deteriorated, and MRI revealed a cystic lesion in the left frontal lobe; thereafter, the cystic lesion was removed and a diagnosis of AA was established. The tumor was soft, ivory white and gelatinous due to myxoid degeneration. In this case, tumor-related angiogenesis and microvascular extravasation (blood-brain barrier disruption) may have been the main cause of the rapid increase in the cystic volume in such a short time frame. The similarity of the glioma and cysticercus antigens may have been the cause of the positive reactions in the cystic fluid. The present study reports the rare occurrence of a rapid increase of cystic volume and potential diagnostic difficulties. PMID:27698865

  4. Cystic Change in Pleomorphic Adenoma: A Rare Finding and a Diagnostic Dilemma

    PubMed Central

    Khetrapal, Shaan; Jetley, Sujata; Hassan, Mohd. Jaseem

    2015-01-01

    Pleomorphic adenoma forms the majority of salivary gland neoplasms. Cystic change in pleomorphic adenomas is a diagnostic dilemma and can mimic mucoepidermoid carcinoma, mucocele or carcinoma ex pleomorphic adenoma and squamous cell carcinoma. Hereby we report this interesting and rare case of cystic pleomorphic adenoma in a 32-year-old male. PMID:26675071

  5. Cystic and Papillary Neoplasm at the Hepatic Hilum Possibly Originating in the Peribiliary Glands.

    PubMed

    Miyata, Takashi; Uesaka, Katsuhiko; Nakanuma, Yasuni

    2016-01-01

    Cystic neoplasms of the liver are divided into two types: mucinous cystic neoplasm and cystic intraductal papillary neoplasm of the bile duct. We herein report two cases of cystic and papillary neoplasm of the liver which differed from the abovementioned types. Case  1. A 70-year-old man. Radiologically, a cystic tumor measuring 20 mm in diameter was found at the hepatic hilum. Right hepatectomy was performed under a diagnosis of intrahepatic cholangiocarcinoma (iCCA) based on the imaging findings. Case  2. A 70-year-old man. Radiologically, a cystic tumor measuring 60 mm in diameter was found at the hepatic hilum. Under a diagnosis of iCCA, left hepatic trisectionectomy was performed. In both cases, endoscopic retrograde cholangiography did not demonstrate communication between the cystic tumor and adjacent bile ducts. Pathologically, these two tumors were cystic neoplasms located at the hepatic hilum and were morphologically characterized by an intracystic papillary neoplasm composed of diffuse high-grade dysplasia and associated with an invasive carcinoma. Ovarian-like stroma was not found in the capsule of these tumors. Interestingly, there were peribiliary glands near these tumors, and MUC6 was expressed in these papillary neoplasms as well as in the peribiliary glands. These neoplasms might have arisen from the peribiliary glands. PMID:27656307

  6. Cystic fibrosis: comparison of two mucolytic drugs for inhalation treatment (acetylcysteine and arginine hydrochloride).

    PubMed

    Dietzsch, H J; Gottschalk, B; Heyne, K; Leupoid, W; Wunderlich, P

    1975-01-01

    Clinical, bronchoscopic, spirographic, scintigraphic, and chemical analyses were done in 24 children with cystic fibrosis to assess the mucolytic effects of acetylcysteine inhalations versus L-arginine hydrochloride aerosols. The latter drug is less active than acetylcysteine and should not be used to treat children with cystic fibrosis.

  7. [Retroperitoneal cystic lymphangiomas in adults: four case reports and review of the literature].

    PubMed

    Tohmé, Cyril; Ata, Toufic; Ghorra, Claude; Noun, Roger; Abboud, Bassam; Sarkis, Riad

    2008-01-01

    Retroperitoneal location of cystic lymphangiomas in adult patients is rare. Their clinical presentation is not specific. Magnetic resonance imaging is the best radiological exam for the diagnosis. These tumors must be distinguished from mesenteric cysts which are more frequent and can degenerate. The authors report four cases of retroperitoneal cystic lymphangioma with a literature review.

  8. Case report: massive biliary dilatation mimicking cystic retroperitoneal masses on computed tomography.

    PubMed

    Glajchen, N; Shapiro, R S; Gendler, R; Mitty, H; Train, J S

    1993-01-01

    An unusual case is presented in which a massively dilated common bile duct produced a confusing CT image of multiple cystic areas within the abdominal cavity. Cholangiography and CT-cholangiography were useful in establishing the correct diagnosis. The differential diagnosis of cystic retroperitoneal masses is discussed.

  9. Adventitial cystic disease of the common femoral vein presenting as deep vein thrombosis.

    PubMed

    Kim, Young-Kyun; Chun, Ho Jong; Hwang, Jeong Kye; Kim, Ji Il; Kim, Sang Dong; Park, Sun-Cheol; Moon, In Sung

    2016-07-01

    Adventitial cystic disease of the common femoral vein is a rare condition. We herein report the case of a 50-year-old woman who presented with painless swelling in her left lower leg that resembled deep vein thrombosis. She underwent femoral exploration and excision of the cystic wall. The presentation, investigation, treatment, and pathology of this condition are discussed with a literature review.

  10. Cystic meningioangiomatosis with enhancing mural nodule on MRI and no calcification on CT.

    PubMed

    Fu, Y; Sun, Z H; Zhang, J; Liu, H T

    2015-01-01

    The neuroradiological features of meningioangiomatosis (MA) are non-specific. We report a young man with sporadic MA. The plain computerized tomography (CT) demonstrated a deep located right cystic lesion without calcification. On magnetic resonance imaging, the cystic mass lesion was confirmed with a mural nodule with significant enhancement on contrast-enhanced images.

  11. Lumacaftor/Ivacaftor: A Review in Cystic Fibrosis.

    PubMed

    Deeks, Emma D

    2016-08-01

    Lumacaftor/ivacaftor (Orkambi™) is a fixed-dose tablet containing a corrector (lumacaftor) and potentiator (ivacaftor) of the cystic fibrosis transmembrane conductance regulator (CFTR) and is the first therapy approved to treat the underlying cause of cystic fibrosis in patients (aged ≥12 years) homozygous for the most common CFTR mutation, F508del. Lumacaftor improves the processing of F508del CFTR and its transport to the cell surface, while ivacaftor increases the channel's open probability and transport of chloride. In two 24-week trials in the approved patient population (TRAFFIC and TRANSPORT), lumacaftor 400 mg plus ivacaftor 250 mg, administered every 12 h in combination with standard therapy, was associated with an ≈3 % statistically significant improvement in lung function relative to placebo (as measured by the percent predicted forced expiratory volume in 1 s). Lumacaftor plus ivacaftor did not significantly improve respiratory symptoms, although reduced pulmonary exacerbations to a clinically meaningful extent and, in one trial (TRANSPORT), significantly improved body mass index (BMI). In an ongoing extension of these studies (PROGRESS), lumacaftor plus ivacaftor provided clinical benefit over a further 72 weeks of treatment. Lumacaftor plus ivacaftor had an acceptable tolerability profile, with the most common adverse events being respiratory or gastrointestinal in nature. Thus, lumacaftor/ivacaftor expands the treatment options available for patients with cystic fibrosis homozygous for the F508del-CFTR mutation, although its precise place in clinical practice remains to be determined. PMID:27394157

  12. Ultrasonographic features of the liver with cystic echinococcosis in sheep

    PubMed Central

    Hussein, Hussein Awad; Elrashidy, Mohammed

    2014-01-01

    Objectives The present study was designed to gain information about the ultrasonographic features of livers with cystic echinococcosis, as well as to evaluate the use of ultrasonography for diagnosis of such disease in sheep. Design This was a retrospective study during the period April 2011 to March 2013. Participants A total of 22 Baladi sheep (aged three to six years) were included in this study. Based on clear hepatic ultrasonographic findings, all animals were classified into two groups: those with hepatic cysts (n=9) and without liver cysts (healthy liver, n=13). Results Biochemically, serum concentrations of γ-glutamyl transferase, aspartate aminotransferase, total bilirubin and globulins were significantly increased (P<0.01), while albumin was lowered (P<0.01) in sheep with cystic livers. Ultrasonographic findings of diseased sheep livers revealed the presence of rounded, anechoic and unilocular hydatid cysts with ellipse circumference ranged from 6–10 cm. The borders of cysts were mostly well defined. The interior of cysts contained echogenic particulate materials, septations, or fine echoes. At the 10th intercostal space, the ventral margin, size, thickness and angle of livers were higher (P<0.01), while the diameter of portal vein was lower (P<0.01) in sheep with liver cysts than control ones. Furthermore, at the 9th intercostal space, the circumference of the gall bladder was decreased in sheep with hepatic cysts (P<0.01). The sensitivity, specificity, and positive and negative predictive values of ultrasonography for diagnosis of hepatic hydatid cysts were 80 per cent and 100 per cent, and 100 per cent and 83 per cent, respectively. Conclusions Cystic echinococcosis is associated with a number of anatomical alterations in the liver tissues that can be easily recognised by ultrasound. Furthermore, ultrasonography alone or in combination with analysis of biochemical parameters reflecting liver function could be helpful for diagnosis of hepatic

  13. Cystic urolithiasis in captive waxy monkey frogs (Phyllomedusa sauvagii).

    PubMed

    Archibald, Kate E; Minter, Larry J; Dombrowski, Daniel S; O'Brien, Jodi L; Lewbart, Gregory A

    2015-03-01

    The waxy monkey frog (Phyllomedusa sauvagii) is an arboreal amphibian native to arid regions of South America, and it has developed behavioral and physiologic adaptations to permit survival in dry environments. These adaptations include a uricotelic nitrogen metabolism and unique cutaneous lipid excretions to prevent evaporative water loss. Uroliths are a rare finding in amphibians. Six adult, presumed wild-caught waxy monkey frogs housed in a museum animal collection were diagnosed with cystic urolithiasis over a 7-yr period, and a single animal was diagnosed with four recurrent cases. Six cases were identified incidentally at routine physical or postmortem examination and four cases were identified during veterinary evaluation for coelomic distension, lethargy, anorexia, and increased soaking behavior. Calculi were surgically removed from three frogs via cystotomy, and a single frog underwent three cystotomies and two cloacotomies for recurrent urolithiasis. Two frogs died within the 24-hr postoperative period. Two representative calculi from a single frog were submitted for component analysis and found to consist of 100% ammonium urate. In the present report, cystic calculi are proposed to be the result of a high-protein diet based on a single invertebrate source, coupled with uricotelism, dehydration, increased cutaneous water loss, body temperature fluctuations facilitating supersaturation of urine, and subsequent accumulation and precipitation of urogenous wastes within the urinary bladder. Surgical cystotomy represents a short-term treatment strategy for this condition. Preventative measures, such as supplying a diversified and balanced diet in addition to environmental manipulation aimed at promoting adequate hydration, are anticipated to be more-rewarding management tools for cystic urolithiasis in the waxy monkey frog.

  14. Cystic urolithiasis in captive waxy monkey frogs (Phyllomedusa sauvagii).

    PubMed

    Archibald, Kate E; Minter, Larry J; Dombrowski, Daniel S; O'Brien, Jodi L; Lewbart, Gregory A

    2015-03-01

    The waxy monkey frog (Phyllomedusa sauvagii) is an arboreal amphibian native to arid regions of South America, and it has developed behavioral and physiologic adaptations to permit survival in dry environments. These adaptations include a uricotelic nitrogen metabolism and unique cutaneous lipid excretions to prevent evaporative water loss. Uroliths are a rare finding in amphibians. Six adult, presumed wild-caught waxy monkey frogs housed in a museum animal collection were diagnosed with cystic urolithiasis over a 7-yr period, and a single animal was diagnosed with four recurrent cases. Six cases were identified incidentally at routine physical or postmortem examination and four cases were identified during veterinary evaluation for coelomic distension, lethargy, anorexia, and increased soaking behavior. Calculi were surgically removed from three frogs via cystotomy, and a single frog underwent three cystotomies and two cloacotomies for recurrent urolithiasis. Two frogs died within the 24-hr postoperative period. Two representative calculi from a single frog were submitted for component analysis and found to consist of 100% ammonium urate. In the present report, cystic calculi are proposed to be the result of a high-protein diet based on a single invertebrate source, coupled with uricotelism, dehydration, increased cutaneous water loss, body temperature fluctuations facilitating supersaturation of urine, and subsequent accumulation and precipitation of urogenous wastes within the urinary bladder. Surgical cystotomy represents a short-term treatment strategy for this condition. Preventative measures, such as supplying a diversified and balanced diet in addition to environmental manipulation aimed at promoting adequate hydration, are anticipated to be more-rewarding management tools for cystic urolithiasis in the waxy monkey frog. PMID:25831582

  15. Gene therapy for the treatment of cystic fibrosis.

    PubMed

    Burney, Tabinda J; Davies, Jane C

    2012-01-01

    Gene therapy is being developed as a novel treatment for cystic fibrosis (CF), a condition that has hitherto been widely-researched yet for which no treatment exists that halts the progression of lung disease. Gene therapy involves the transfer of correct copies of cystic fibrosis transmembrane conductance regulator (CFTR) DNA to the epithelial cells in the airways. The cloning of the CFTR gene in 1989 led to proof-of-principle studies of CFTR gene transfer in vitro and in animal models. The earliest clinical trials in CF patients were conducted in 1993 and used viral and non-viral gene transfer agents in both the nasal and bronchial airway epithelium. To date, studies have focused largely on molecular or bioelectric (chloride secretion) outcome measures, many demonstrating evidence of CFTR expression, but few have attempted to achieve clinical efficacy. As CF is a lifelong disease, turnover of the airway epithelium necessitates repeat administration. To date, this has been difficult to achieve with viral gene transfer agents due to host recognition leading to loss of expression. The UK Cystic Fibrosis Gene Therapy Consortium (Imperial College London, University of Edinburgh and University of Oxford) is currently working on a large and ambitious program to establish the clinical benefits of CF gene therapy. Wave 1, which has reached the clinic, uses a non-viral vector. A single-dose safety trial is nearing completion and a multi-dose clinical trial is shortly due to start; this will be powered for clinically-relevant changes. Wave 2, more futuristically, will look at the potential of lentiviruses, which have long-lasting expression. This review will summarize the current status of translational research in CF gene therapy. PMID:23776378

  16. Health Human Resources Guidelines: Minimum Staffing Standards and Role Descriptions for Canadian Cystic Fibrosis Healthcare Teams.

    PubMed

    McIntosh, Ian D

    2016-01-01

    In cystic fibrosis clinics across Canada, the most common barrier that healthcare workers face when providing care to their patients is having too little time. The Health Human Resources Guidelines were developed to define specifically what amounts of time should be allocated for each discipline of cystic fibrosis clinical care and to provide a description of all the roles involved, reinforcing how these work together to provide comprehensive multidisciplinary care. With involvement from all cystic fibrosis clinics in Canada, through the use of a tailored survey, the Health Human Resources Guidelines are an exclusively Canadian document that has been developed for implementation across the country. The guidelines have been incorporated into a national Accreditation Site Visit program for use in evaluating and improving care across the country and have been distributed to all Canadian cystic fibrosis clinics. The guidelines provide hospital administrators with clear benchmarks for allocating personnel resources to the cystic fibrosis clinics hosted within their institutions. PMID:27445556

  17. Health Human Resources Guidelines: Minimum Staffing Standards and Role Descriptions for Canadian Cystic Fibrosis Healthcare Teams

    PubMed Central

    2016-01-01

    In cystic fibrosis clinics across Canada, the most common barrier that healthcare workers face when providing care to their patients is having too little time. The Health Human Resources Guidelines were developed to define specifically what amounts of time should be allocated for each discipline of cystic fibrosis clinical care and to provide a description of all the roles involved, reinforcing how these work together to provide comprehensive multidisciplinary care. With involvement from all cystic fibrosis clinics in Canada, through the use of a tailored survey, the Health Human Resources Guidelines are an exclusively Canadian document that has been developed for implementation across the country. The guidelines have been incorporated into a national Accreditation Site Visit program for use in evaluating and improving care across the country and have been distributed to all Canadian cystic fibrosis clinics. The guidelines provide hospital administrators with clear benchmarks for allocating personnel resources to the cystic fibrosis clinics hosted within their institutions. PMID:27445556

  18. Ectopic opening of cystic dilatation of the ejaculatory duct into enlarged prostatic utricle.

    PubMed

    Lin, Jian-Zhong; Wu, Hong-Fei; Wang, Ji-Chen; Le, Mei-Zhao; Yu, Hong-Bo; Zhou, He-Tong

    2012-01-01

    A 28-year-old man was referred to our department for the management of recurrent hemospermia during the past 5 years. Genital examination and hormonal levels were normal. Semen analysis showed no change in volume and pH; however, hemospermia and asthenozoospermia were observed. Ultrasonography and computed tomography scan revealed the presence of a cystic lesion with calcification in the terminal part of seminal vesicles adjoining the prostate gland. The following vasography and endoscopic retrograde urethrography demonstrated 2 communicating cystic dilatations arising from the verumontanum. The diagnosis of cystic dilatation of the ejaculatory duct opening into an enlarged prostatic utricle was reached. Transurethral unroofing of the cyst was separately performed with a successful outcome. The characteristic of the 2 cystic dilatations was confirmed by pathologic examination. To the best of our knowledge, this is the first case of ectopic cystic dilatation of the ejaculatory duct opening into an enlarged prostatic utricle.

  19. Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice.

    PubMed

    Mall, Marcus; Grubb, Barbara R; Harkema, Jack R; O'Neal, Wanda K; Boucher, Richard C

    2004-05-01

    Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene result in defective epithelial cAMP-dependent Cl(-) secretion and increased airway Na(+) absorption. The mechanistic links between these altered ion transport processes and the pathogenesis of cystic fibrosis lung disease, however, are unclear. To test the hypothesis that accelerated Na(+) transport alone can produce cystic fibrosis-like lung disease, we generated mice with airway-specific overexpression of epithelial Na(+) channels (ENaC). Here we show that increased airway Na(+) absorption in vivo caused airway surface liquid (ASL) volume depletion, increased mucus concentration, delayed mucus transport and mucus adhesion to airway surfaces. Defective mucus transport caused a severe spontaneous lung disease sharing features with cystic fibrosis, including mucus obstruction, goblet cell metaplasia, neutrophilic inflammation and poor bacterial clearance. We conclude that increasing airway Na(+) absorption initiates cystic fibrosis-like lung disease and produces a model for the study of the pathogenesis and therapy of this disease. PMID:15077107

  20. Health Human Resources Guidelines: Minimum Staffing Standards and Role Descriptions for Canadian Cystic Fibrosis Healthcare Teams.

    PubMed

    McIntosh, Ian D

    2016-01-01

    In cystic fibrosis clinics across Canada, the most common barrier that healthcare workers face when providing care to their patients is having too little time. The Health Human Resources Guidelines were developed to define specifically what amounts of time should be allocated for each discipline of cystic fibrosis clinical care and to provide a description of all the roles involved, reinforcing how these work together to provide comprehensive multidisciplinary care. With involvement from all cystic fibrosis clinics in Canada, through the use of a tailored survey, the Health Human Resources Guidelines are an exclusively Canadian document that has been developed for implementation across the country. The guidelines have been incorporated into a national Accreditation Site Visit program for use in evaluating and improving care across the country and have been distributed to all Canadian cystic fibrosis clinics. The guidelines provide hospital administrators with clear benchmarks for allocating personnel resources to the cystic fibrosis clinics hosted within their institutions.