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Sample records for cystic paraurethral structures

  1. Prevalence of cystic paraurethral structures in asymptomatic women at endovaginal and perineal sonography

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    Cross, Justin J.L.; Fynes, Michelle; Berman, Laurence; Perera, Divaka

    2001-07-01

    AIM: To prospectively assess the prevalence of paraurethral cystic structures in asymptomatic adult women. PATIENTS AND METHODS: One hundred and forty consecutive women undergoing endovaginal sonography with no history of lower urinary tract symptoms. RESULTS: Paraurethral cystic structures were identified in 4/140 subjects (2.9%). Ultrasound assessment allowed rapid definition of the site, size and vascularity of these lesions and was well tolerated by the patient. CONCLUSION: This is the first prospective ultrasound study to determine the prevalence of paraurethral cystic structures in a large consecutive cohort of asymptomatic women. Our findings are in accordance with previously published post-mortem data and surgical series which have estimated the prevalence of paraurethral cystic structures to be between 1 and 6%. Cross, J.J.L. et al.(2001)

  2. Adenocarcinoma of the paraurethral glands: a case report.

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    Massari, Francesco; Ciccarese, Chiara; Modena, Alessandra; Maines, Francesca; Segala, Diego; Luchini, Claudio; Marcolini, Lisa; Cavicchioli, Francesca; Cavalleri, Stefano; Bria, Emilio; Brunelli, Matteo; Martignoni, Guido; Artibani, Walter; Tortora, Giampaolo

    2014-10-01

    Adenocarcinoma of the paraurethral glands represents a very rare neoplasm of the urinary tract. Due to the rarity of this disease, there is no standard therapeutic approach. We report a case of adenocarcinoma of the paraurethral glands in a 56-year-old woman, presenting with abnormal serous vaginal discharges. The radiologic examination revealed a 5-cm mass around the urethra, which underwent surgical resection. After surgical resection, the histology revealed a moderately differentiated adenocarcinoma, probably arising from the paraurethral glands. One month later, a pelvic recurrent mass was radiologically diagnosed; consequently, an anterior pelvic exenteration with lymph node dissection was performed. Histological examination revealed a moderately differentiated adenocarcinoma, with glandular and micropapillary architecture, with multiple lymph node metastases. The absence of modifications such as urethritis cystic glandularis on the urethral mucosa, as well as the lack of a lesion in situ, associated with the immunohistochemical expression of PAX8 and negativity for GATA3 and S100p, suggested that the adenocarcinoma originated from the paraurethral glands rather than from the urethral mucosa. Post-surgery CT scans revealed no evidence of metastatic disease. The patient received 6 courses of adjuvant chemotherapy with carboplatin and paclitaxel. One year after the pelvic exenteration, because of inguinal lymph node progression, an inguinal lymphadenectomy was performed. Four months later, a TC-PET revealed a multidistrectual lymph node and a lung micronodule disease progression. Invasive micropapillary carcinomas have been characterized as a rare distinctive variant of carcinomas in several anatomic sites and are distinguished by a marked tendency to lymphovascular invasion, justifying the association with high-stage disease and poor prognosis. In the present case, both the poor prognosis connected with micropapillary structure and the lymph node involvement

  3. Risk Factors associated with Paraurethral Duct Dilatation following Gonococcal Paraurethral Duct Infection in Men

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    Fan, Wenge; Zhang, Qingsong; Wang, Lin; Ye, Xun; Jiang, Tingwang

    2016-01-01

    No studies have explored the risk factors for paraurethral duct dilatation following paraurethral duct infection by Neisseria gonorrhoeae in men undergoing ceftriaxone therapy. The present study was performed to explore the risk factors for paraurethral duct dilatation following paraurethral duct infection by N. gonorrhoeae in men undergoing ceftriaxone therapy and thus guide clinical interventions. We compared the demographic, behavioral, and clinical data of men with paraurethral duct infection by N. gonorrhoeae with and without dilatation of the paraurethral duct. Univariate analysis showed significant differences in age, disease course of the infected paraurethral duct, Chlamydia trachomatis infection in the paraurethral duct, and a history of paraurethral duct infection by N. gonorrhoeae between the patient and control groups (Pgonorrhoeae in men. Age, C. trachomatis infection in the paraurethral duct, and a history of paraurethral duct infection by N. gonorrhoeae are also risk factors. Thus, educating patients to undergo timely therapy and treating the C. trachomatis infection may be effective interventions. PMID:27861521

  4. Paraurethral cyst. A case report

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    Emilio Vega Azcúe

    2011-03-01

    Full Text Available The paraurethral or Skene’s duct cyst, is a rare diagnostic entity in a newborn. It represents less than 0,5 % of congenital malformations of the urinary tract. All over the world it is reported an incidence of 1:2000 to 1:7000 in female births. In the newborn, the paraurethral cyst is caused by retention of secretions in the Skene's gland due to the obstruction of its ducts. Most of these cysts decrease in size during the first four to eight weeks, but they may cause symptoms of infection or urinary obstruction. They can also get formed from persistent embryonic remains of the mesonephric ducts (Wolffian duct, known as Gartner cysts and from the occlusion of unfused paramesonephric ducts (Müllerian. The case of a 25-day-old female, diagnosed with paraurethral cyst that underwent surgery and evolved successfully is presented.

  5. Paraurethral Skene's duct cyst in a newborn

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    Moralioğlu, Serdar; Bosnalı, Oktav; Celayir, Ayşenur Cerrah; Şahin, Ceyhan

    2013-01-01

    Paraurethral or Skene's duct cysts are rare causes of interlabial masses in neonates. The diagnosis of Skene's duct cysts in the neonatal period is based on its location, in relation to the urethra, and the demonstration of transitional epithelium in the cyst wall. The distinguishing features of paraurethral cysts are the displacement of urethral meatus by the mass and a cyst containing milky fluid. Thus, we report a case of a Skene's duct cyst in a newborn which was treated by incision and drainage. PMID:24049387

  6. Paraurethral leiomyoma in a postmenopausal woman

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    Shim, Susy; Borg, Camilla Skovvang; Majeed, Huda Galib

    2015-01-01

    Leiomyomas are benign tumors extending from smooth muscle cells and only few cases of paraurethral leiomyomas have been described in the literature. They are often seen in the reproductive age and around 50% of the cases are asymptomatic. We describe a 59-year-old woman with a solid mobile tumor...

  7. Paraurethral Leiomyoma in a 20 Year-old Woman: A Case Report

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    Emily Adams-Piper

    2016-01-01

    Full Text Available We present the case of a 20 year-old woman with a vulvar mass, found to be a paraurethral leiomyoma. She subsequently underwent supermedial-approach paraurethral mass excision, distal urethral reconstruction and cystourethroscopy. Paraurethral leiomyoma make up approximately five percent of urethral tumors. This case depicts the presentation and treatment of a paraurethral leiomyoma in one of the youngest women reported in the literature.

  8. Paraurethral Skene′s duct cyst in a newborn

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    Serdar Moralioglu

    2013-01-01

    Full Text Available Paraurethral or Skene′s duct cysts are rare causes of interlabial masses in neonates. The diagnosis of Skene′s duct cysts in the neonatal period is based on its location, in relation to the urethra, and the demonstration of transitional epithelium in the cyst wall. The distinguishing features of paraurethral cysts are the displacement of urethral meatus by the mass and a cyst containing milky fluid. Thus, we report a case of a Skene′s duct cyst in a newborn which was treated by incision and drainage.

  9. Atomic Structure of the Cystic Fibrosis Transmembrane Conductance Regulator.

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    Zhang, Zhe; Chen, Jue

    2016-12-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel evolved from the ATP-binding cassette (ABC) transporter family. In this study, we determined the structure of zebrafish CFTR in the absence of ATP by electron cryo-microscopy to 3.7 Å resolution. Human and zebrafish CFTR share 55% sequence identity, and 42 of the 46 cystic-fibrosis-causing missense mutational sites are identical. In CFTR, we observe a large anion conduction pathway lined by numerous positively charged residues. A single gate near the extracellular surface closes the channel. The regulatory domain, dephosphorylated, is located in the intracellular opening between the two nucleotide-binding domains (NBDs), preventing NBD dimerization and channel opening. The structure also reveals why many cystic-fibrosis-causing mutations would lead to defects either in folding, ion conduction, or gating and suggests new avenues for therapeutic intervention.

  10. Family structure and mothers' caregiving of children with cystic fibrosis.

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    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.

  11. Paraurethral cyst. A case report Quiste parauretral. Presentación de un caso

    OpenAIRE

    2011-01-01

    The paraurethral or Skene’s duct cyst, is a rare diagnostic entity in a newborn. It represents less than 0,5 % of congenital malformations of the urinary tract. All over the world it is reported an incidence of 1:2000 to 1:7000 in female births. In the newborn, the paraurethral cyst is caused by retention of secretions in the Skene's gland due to the obstruction of its ducts. Most of these cysts decrease in size during the first four to eight weeks, but they may cause symptoms of infection or...

  12. Structure and function of the cystic fibrosis transmembrane conductance regulator

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    M.M. Morales

    1999-08-01

    Full Text Available Cystic fibrosis (CF is a lethal autosomal recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR. Mutations in the CFTR gene may result in a defective processing of its protein and alter the function and regulation of this channel. Mutations are associated with different symptoms, including pancreatic insufficiency, bile duct obstruction, infertility in males, high sweat Cl-, intestinal obstruction, nasal polyp formation, chronic sinusitis, mucus dehydration, and chronic Pseudomonas aeruginosa and Staphylococcus aureus lung infection, responsible for 90% of the mortality of CF patients. The gene responsible for the cellular defect in CF was cloned in 1989 and its protein product CFTR is activated by an increase of intracellular cAMP. The CFTR contains two membrane domains, each with six transmembrane domain segments, two nucleotide-binding domains (NBDs, and a cytoplasmic domain. In this review we discuss the studies that have correlated the role of each CFTR domain in the protein function as a chloride channel and as a regulator of the outwardly rectifying Cl- channels (ORCCs.

  13. Magnetomotive optical coherence elastography for relating lung structure and function in cystic fibrosis

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    Chhetri, Raghav K.; Carpenter, Jerome; Superfine, Richard; Randell, Scott H.; Oldenburg, Amy L.

    2010-02-01

    Cystic fibrosis (CF) is a genetic defect in the cystic fibrosis transmembrane conductance regulator protein and is the most common life-limiting genetic condition affecting the Caucasian population. It is an autosomal recessive, monogenic inherited disorder characterized by failure of airway host defense against bacterial infection, which results in bronchiectasis, the breakdown of airway wall extracellular matrix (ECM). In this study, we show that the in vitro models consisting of human tracheo-bronchial-epithelial (hBE) cells grown on porous supports with embedded magnetic nanoparticles (MNPs) at an air-liquid interface are suitable for long term, non-invasive assessment of ECM remodeling using magnetomotive optical coherence elastography (MMOCE). The morphology of ex vivo CF and normal lung tissues using OCT and correlative study with histology is also examined. We also demonstrate a quantitative measure of normal and CF airway elasticity using MMOCE. The improved understanding of pathologic changes in CF lung structure and function and the novel method of longitudinal in vitro ECM assessment demonstrated in this study may lead to new in vivo imaging and elastography methods to monitor disease progression and treatment in cystic fibrosis.

  14. Characterisation of the salmon cystic fibrosis transmembrane conductance regulator protein for structural studies

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    Naomi L. Pollock

    2014-11-01

    Full Text Available The cystic fibrosis transmembrane conductance regulator protein (CFTR is a chloride channel highly expressed in the gills of Salmo salar, with a role in osmoregulation. It shares 60% identity with the human CFTR channel, mutations to which can cause the common genetic disorder cystic fibrosis CF. The expression and localisation of salmon CFTR have been investigated, but the isolated protein has not been extensively characterised. Here we present a protocol for the purification of recombinant salmon CFTR, along with biophysical and structural characterisation of the purified protein. Salmon CFTR was overexpressed in Saccharomyces cerevisiae, solubilised in the detergent LPG-14 and chromatographically purified by nickel-affinity and size-exclusion chromatography methods. Prior to size-exclusion chromatography samples of salmon CFTR had low purity, and contained large quantities of aggregated protein. Compared to size-exclusion chromatography profiles of other orthologues of CFTR, which had less evidence of aggregation, salmon CFTR appeared to have lower intrinsic stability than human and platypus CFTR. Nonetheless, repeated size-exclusion chromatography allowed monodisperse salmon CFTR to be isolated, and multi-angle light scattering was used to determine its oligomeric state. The monodispersity of the sample and its oligomeric state were confirmed using cryo-electron microscopy and small-angle X-ray scattering (SAXS. These data were also processed to calculate a low-resolution structure of the salmon CFTR, which showed similar architecture to other ATP-binding cassette proteins.

  15. Strong incidence of Pseudomonas aeruginosa on bacterial rrs and ITS genetic structures of cystic fibrosis sputa.

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    Pages-Monteiro, Laurence; Marti, Romain; Commun, Carine; Alliot, Nolwenn; Bardel, Claire; Meugnier, Helene; Perouse-de-Montclos, Michele; Reix, Philippe; Durieu, Isabelle; Durupt, Stephane; Vandenesch, Francois; Freney, Jean; Cournoyer, Benoit; Doleans-Jordheim, Anne

    2017-01-01

    Cystic fibrosis (CF) lungs harbor a complex community of interacting microbes, including pathogens like Pseudomonas aeruginosa. Meta-taxogenomic analysis based on V5-V6 rrs PCR products of 52 P. aeruginosa-positive (Pp) and 52 P. aeruginosa-negative (Pn) pooled DNA extracts from CF sputa suggested positive associations between P. aeruginosa and Stenotrophomonas and Prevotella, but negative ones with Haemophilus, Neisseria and Burkholderia. Internal Transcribed Spacer analyses (RISA) from individual DNA extracts identified three significant genetic structures within the CF cohorts, and indicated an impact of P. aeruginosa. RISA clusters Ip and IIIp contained CF sputa with a P. aeruginosa prevalence above 93%, and of 24.2% in cluster IIp. Clusters Ip and IIIp showed lower RISA genetic diversity and richness than IIp. Highly similar cluster IIp RISA profiles were obtained from two patients harboring isolates of a same P. aeruginosa clone, suggesting convergent evolution in the structure of their microbiota. CF patients of cluster IIp had received significantly less antibiotics than patients of clusters Ip and IIIp but harbored the most resistant P. aeruginosa strains. Patients of cluster IIIp were older than those of Ip. The effects of P. aeruginosa on the RISA structures could not be fully dissociated from the above two confounding factors but several trends in these datasets support the conclusion of a strong incidence of P. aeruginosa on the genetic structure of CF lung microbiota.

  16. The cystic fibrosis transmembrane conductance regulator (CFTR): three-dimensional structure and localization of a channel gate.

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    Rosenberg, Mark F; O'Ryan, Liam P; Hughes, Guy; Zhao, Zhefeng; Aleksandrov, Luba A; Riordan, John R; Ford, Robert C

    2011-12-09

    Cystic fibrosis affects about 1 in 2500 live births and involves loss of transmembrane chloride flux due to a lack of a membrane protein channel termed the cystic fibrosis transmembrane conductance regulator (CFTR). We have studied CFTR structure by electron crystallography. The data were compared with existing structures of other ATP-binding cassette transporters. The protein was crystallized in the outward facing state and resembled the well characterized Sav1866 transporter. We identified regions in the CFTR map, not accounted for by Sav1866, which were potential locations for the regulatory region as well as the channel gate. In this analysis, we were aided by the fact that the unit cell was composed of two molecules not related by crystallographic symmetry. We also identified regions in the fitted Sav1866 model that were missing from the map, hence regions that were either disordered in CFTR or differently organized compared with Sav1866. Apart from the N and C termini, this indicated that in CFTR, the cytoplasmic end of transmembrane helix 5/11 and its associated loop could be partly disordered (or alternatively located).

  17. Cystic fibrosis

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    Radlović Nedeljko

    2012-01-01

    Full Text Available Cystic fibrosis (CF is a multisystemic autosomal recessive disease caused by a defect in the expression of CFTR protein, i.e. chloride channel present in the apical membrane of respiratory, digestive, reproductive and sweat glands epithelium. It primarily occurs in the Caucasians, while being considerably or exceptionally rare in persons of other races. Absence, deficit or structural and functional abnormalities of CFTR protein lead to mucosal hyperconcentration in the respiratory, digestive and reproductive systems and malabsorption of chloride and sodium in the sweat glands. Thus, the clinical features of patients’ with CF are predominated by respiratory, digestive and reproductive disorders, as well as the tendency to dehydration in the condition of increased sweating. Beside genotype variations, the degree of disease manifestation is also essentially influenced by various exogenous factors, such as the frequency and severity of respiratory infections, the level of aero-pollution, quality of immunoprophylaxis, patients’ nutritional condition and other. Chloride concentration of over 60 mmol/L in sweat, a high level of immunoreactive chymotrypsinogen in blood and the verification of homozygous mutation of CFTR gene are the basic methods in the diagnostics of the disease. CF belongs to the group of severe and complex chronic diseases, and therefore requires multidisciplinary therapeutic approach. Owing to the improvement of healthcare provision, most patients with CF now survive into adulthood. In addition, their quality of life is also considerably improved.

  18. What Causes Cystic Fibrosis?

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    ... page from the NHLBI on Twitter. What Causes Cystic Fibrosis? A defect in the CFTR gene causes cystic ... in the severity of the disease. How Is Cystic Fibrosis Inherited? Every person inherits two CFTR genes—one ...

  19. Cystic Fibrosis Research

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    ... please turn Javascript on. Feature: Steady Advances Against Cystic Fibrosis Cystic Fibrosis Research Past Issues / Fall 2012 Table of Contents "Remarkable strides in cystic fibrosis research over the past two decades have culminated ...

  20. Structural basis of typhoid: Salmonella typhi type IVb pilin (PiLS) and cystic fibrosis transmembrane conductance regulator interaction

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    Balakrishna, A.M.; Saxena, A.; Mok, H. Y.-K.; Swaminathan, K.

    2009-11-01

    The type IVb pilus of the enteropathogenic bacteria Salmonella typhi is a major adhesion factor during the entry of this pathogen into gastrointestinal epithelial cells. Its target of adhesion is a stretch of 10 residues from the first extracellular domain of cystic fibrosis transmembrane conductance regulator (CFTR). The crystal structure of the N-terminal 25 amino acid deleted S. typhi native PilS protein ({Delta}PilS), which makes the pilus, was determined at 1.9 {angstrom} resolution by the multiwavelength anomalous dispersion method. Also, the structure of the complex of {Delta}PilS and a target CFTR peptide, determined at 1.8 {angstrom}, confirms that residues 113-117 (NKEER) of CFTR are involved in binding with the pilin protein and gives us insight on the amino acids that are essential for binding. Furthermore, we have also explored the role of a conserved disulfide bridge in pilus formation. The subunit structure and assembly architecture are crucial for understanding pilus functions and designing suitable therapeutics against typhoid.

  1. Structural Basis of Typhoid: Salmonella typhi Type IVb pilin (PilS) and Cystic Fibrosis Transmembrane Conductance Regulatory Interaction

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    Balakrishna, A.; Saxena, A; Mok, H; Swaminathan, K

    2009-01-01

    The type IVb pilus of the enteropathogenic bacteria Salmonella typhi is a major adhesion factor during the entry of this pathogen into gastrointestinal epithelial cells. Its target of adhesion is a stretch of 10 residues from the first extracellular domain of cystic fibrosis transmembrane conductance regulator (CFTR). The crystal structure of the N-terminal 25 amino acid deleted S. typhi native PilS protein (PilS), which makes the pilus, was determined at 1.9 A resolution by the multiwavelength anomalous dispersion method. Also, the structure of the complex of PilS and a target CFTR peptide, determined at 1.8 A, confirms that residues 113-117 (NKEER) of CFTR are involved in binding with the pilin protein and gives us insight on the amino acids that are essential for binding. Furthermore, we have also explored the role of a conserved disulfide bridge in pilus formation. The subunit structure and assembly architecture are crucial for understanding pilus functions and designing suitable therapeutics against typhoid.

  2. Structural basis of typhod: Salmonella typhi type IVb pilin (PilS) and cystic fibrosis transmembrane conductance regulator interaction

    Energy Technology Data Exchange (ETDEWEB)

    Balakrishna, A.; Saxena, A; Mok, H; Swaminathan, K

    2009-01-01

    The type IVb pilus of the enteropathogenic bacteria Salmonella typhi is a major adhesion factor during the entry of this pathogen into gastrointestinal epithelial cells. Its target of adhesion is a stretch of 10 residues from the first extracellular domain of cystic fibrosis transmembrane conductance regulator (CFTR). The crystal structure of the N-terminal 25 amino acid deleted S. typhi native PilS protein (PilS), which makes the pilus, was determined at 1.9 A resolution by the multiwavelength anomalous dispersion method. Also, the structure of the complex of PilS and a target CFTR peptide, determined at 1.8 A, confirms that residues 113-117 (NKEER) of CFTR are involved in binding with the pilin protein and gives us insight on the amino acids that are essential for binding. Furthermore, we have also explored the role of a conserved disulfide bridge in pilus formation. The subunit structure and assembly architecture are crucial for understanding pilus functions and designing suitable therapeutics against typhoid.

  3. Changes in structural lung disease in cystic fibrosis children over 4 years as evaluated by high-resolution computed tomography

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    Carpio, Carlos; Alvarez-Sala, Rodolfo; Prados, Concepcion [University Hospital La Paz, La Paz Hospital Research Institute, Department of Respiratory Medicine, Madrid (Spain); Albi, Gustavo [Nino de Jesus Children' s Hospital, Department of Radiology, Madrid (Spain); Rayon-Aledo, Jose Carlos; Caballero, Paloma [University Hospital La Princesa, Department of Radiology, Madrid (Spain); Giron, Rosa [University Hospital La Princesa, Department of Respiratory Medicine, Madrid (Spain)

    2015-12-15

    To compare the worsening of structural lung disease on high-resolution computed tomography (HRCT) with changes in spirometry results in cystic fibrosis (CF) patients, and analyse factors associated with the worsening of structural lung disease over time. A total of 31 CF subjects (mean age 11.03 ± 3.67 years old) were prospectively evaluated by two HRCT and spirometry tests performed 4 years apart. HRCT abnormalities were scored using the Bhalla scoring system. Comparisons between changes on HRCT and spirometry were made for all patients, and also for groups categorized by age, sex, genotypic alterations and lung obstruction. The mean HRCT Bhalla scoring, forced expiratory volume in 1 s (FEV{sub 1} %pred.) and forced vital capacity (FVC %pred.) were 7.92 ± 3.59, 87.76 ± 20.52 and 96.54 ± 15.12, respectively. There was a significant deterioration in the Bhalla score (p < 0.01) and in certain categories: severity of bronchiectasis, peribronchial thickening, mucous plugging and bronchial divisions. Females had a more pronounced worsening of the Bhalla score than males (p = 0.048). No change over time was found in FEV{sub 1} and FVC. Only sex was associated with a deterioration in HRCT. HRCT Bhalla scoring changes statistically significantly over 4 years, but spirometry results do not. Worsening on HRCT is more evident in females. (orig.)

  4. Antibiotic resistance and population structure of cystic fibrosis Pseudomonas aeruginosa isolates from a Spanish multi-centre study.

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    López-Causapé, Carla; de Dios-Caballero, Juan; Cobo, Marta; Escribano, Amparo; Asensio, Óscar; Oliver, Antonio; Del Campo, Rosa; Cantón, Rafael; Solé, Amparó; Cortell, Isidoro; Asensio, Oscar; García, Gloria; Martínez, María Teresa; Cols, María; Salcedo, Antonio; Vázquez, Carlos; Baranda, Félix; Girón, Rosa; Quintana, Esther; Delgado, Isabel; de Miguel, María Ángeles; García, Marta; Oliva, Concepción; Prados, María Concepción; Barrio, María Isabel; Pastor, María Dolores; Olveira, Casilda; de Gracia, Javier; Álvarez, Antonio; Escribano, Amparo; Castillo, Silvia; Figuerola, Joan; Togores, Bernat; Oliver, Antonio; López, Carla; de Dios Caballero, Juan; Tato, Marta; Máiz, Luis; Suárez, Lucrecia; Cantón, Rafael

    2017-07-20

    The first Spanish multi-centre study on the microbiology of cystic fibrosis (CF) was conducted from 2013 to 2014. The study involved 24 CF units from 17 hospitals, and recruited 341 patients. The aim of this study was to characterise Pseudomonas aeruginosa isolates, 79 of which were recovered from 75 (22%) patients. The study determined the population structure, antibiotic susceptibility profile and genetic background of the strains. Fifty-five percent of the isolates were multi-drug-resistant, and 16% were extensively-drug-resistant. Defective mutS and mutL genes were observed in mutator isolates (15.2%). Considerable genetic diversity was observed by pulsed-field gel electrophoresis (70 patterns) and multi-locus sequence typing (72 sequence types). International epidemic clones were not detected. Fifty-one new and 14 previously described array tube (AT) genotypes were detected by AT technology. This study found a genetically unrelated and highly diverse CF P. aeruginosa population in Spain, not represented by the epidemic clones widely distributed across Europe, with multiple combinations of virulence factors and high antimicrobial resistance rates (except for colistin). Copyright © 2017 Elsevier B.V. and International Society of Chemotherapy. All rights reserved.

  5. [Primary Pelvic Cystic Echinococcosis].

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    Yaman, İsmail; İnceboz, Ümit; İnceboz, Tonay; Keyik, Bahar; Uzgören, Engin

    2015-06-01

    Cystic echinococcosis caused by Echinococcus granulosus is still an important health problem in endemic areas. Cystic echinococcosis may involve different organs or areas with the most common sites being the liver and the lungs. Pelvic involvement has previously been reported and was mainly accepted as secondary to cystic echinococcosis in other organs, isolated pelvic involvement is very rare. In this case report, we aimed to present the case with pelvic cystic mass that was finally diagnosed with isolated pelvic cystic echinococcosis in and after the operation, and we would like to draw attention to include "cystic echinococcosis" in the differential diagnosis of pelvic masses.

  6. Learning about Cystic Fibrosis

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    ... Testing for Cystic Fibrosis Consensus Development Conference Statement Learning About Cystic Fibrosis What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. What is ...

  7. Cystic fibrosis: case report

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    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui [Gachon Medical School, Inchon (Korea, Republic of)

    2002-12-01

    Cystic fibrosis is an autosomal recessive genetic disease. Among Caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic fibrosis varies according to ethnic origin: it is common among Caucasians but rare among Asians. We report a case in which cystic fibrosis with bronchiectasis and hyperaeration was revealed by high-resolution CT, and mutation of the cystic fibrosis conductance transmembrane regulator gene (CFTR) by DNA analysis.

  8. Population structure and characterization of viridans group streptococci (VGS) including Streptococcus pneumoniae isolated from adult patients with cystic fibrosis (CF).

    Science.gov (United States)

    Maeda, Yasunori; Elborn, J Stuart; Parkins, Michael D; Reihill, James; Goldsmith, Colin E; Coulter, Wilson A; Mason, Charlene; Millar, B Cherie; Dooley, James S G; Lowery, Colm J; Ennis, Madeleine; Rendall, Jacqueline C; Moore, John E

    2011-03-01

    A study was undertaken to examine the population structure of viridans group streptococci (VGS) in the sputum of adult patients with cystic fibrosis (CF). Freshly expectorated sputa (n=58) from 45 adult CF patients were examined by selective conventional culture on Mitis-Salivarius agar and yielded 190 isolates of VGS. Sequence analyses of the rpnB and 16-23S rRNA ITS genes identified these isolates to belong to 12 species of VGS and included S. anginosus, S. australis, S. cristatus, S. gordonii, S. infantis, S. mitis, S. mutans, S. oralis, S. parasanguinis, S. pneumoniae, S. salivarius and S. sanguinis. The most frequently VGS organism isolated was S. salivarius (47/190; 24.7%), followed by S. mitis (36/190; 19%), S. sanguinis (25/190; 13.2%), S. oralis (20/190; 11.0%), S. pneumoniae (19/190; 10.0%), S. parasanguinis (16/190; 8.4%), S. infantis (11/190; 5.8%), S. gordonii (7/190; 3.7%), S. anginosus (4/190; 2.1%), S. cristatus (2/190; 1.1%), S. australis (1/190; 0.5%), S. mutans (1/190; 0.5%) and S. agalactiae (1/190; 0.5%). All, but four, patients harboured at least one VGS species, which ranged from one to five streptococcal species, with a mean of 2.85 species per patient. There was no clonality at the subspecies level employing ERIC RAPD PCR. Antibiotic susceptibility was determined by Minimum Inhibitory Concentration (MIC) testing against penicillin, erythromycin and ciprofloxacin. Overall, resistance to penicillin with all VGS was 73/190 (38.4%) and 167/190 (87.9%) for erythromycin. With regard to ciprofloxacin, 27/190 (14.2%) were fully resistant, whilst a further 21/190 (11.1%) showed intermediate resistance, which equated to approximately three quarters (74.7%) of isolates being fully sensitive to this agent. In addition, as a comparator control population, we examined antibiotic susceptibility, as above, in a non-CF population comprising 12 individuals (50 VGS isolates), who were not receiving chronic antibiotics. In comparison, 8% and 38% of VGS

  9. [Cystic fibrosis in 2008].

    Science.gov (United States)

    Durieu, I; Josserand, R Nove

    2008-11-01

    To describe the epidemiological, physiopathological, clinical and therapeutic knowledge concerning cystic fibrosis (CF). Important modifications in the health organization of the care concerning this orphan disease have been implemented in France. The life expectancy has dramatically increased, as well as the knowledge concerning the pathological structure and function of the CFTR gene and protein. This will lead to the development of emerging drug treatments for this lethal disease. The life expectancy is predicted to exceed 40 years for children born in the 2000s. As a result, there has been a tremendous growth of the adult population that reached 40% of the overall approximately 5000 patients included in the CF French registry (Observatoire National de la Mucoviscidose). Lung disease remains the primary cause of morbidity and mortality. The characteristic phenotypic presentation associates bronchial and rhinosinusal symptoms, pancreatic insufficiency and liver disease. Bronchial damage leads to progressive chronic respiratory insufficiency. Diabetes mellitus and osteoporosis frequently appears in adulthood. Neonatal screening has been implemented in France since 2002. It will prevent delayed diagnosis and its deleterious consequences. Some atypical cases of CF presenting only with one or two organ system involvement can be diagnosed in adulthood. Isolated chronic rhinosinusitis, bronchiectasis, congenital bilateral absence of vas deferens, recurrent pancreatitis, allergic bronchopulmonary aspergillosis, and some case of cholangitis may so revealed late form of cystic fibrosis. The health care is organized in cystic fibrosis centres. Despite gene discovery, treatment still remains symptomatic, based on intensive pulmonary and nutritional treatments. Challenges for new treatments are to correct the basic defect, either by gene therapy or by pharmacological modulation of the abnormal physiological processes.

  10. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

    OpenAIRE

    Rosenberg, Mark F.; O'Ryan, Liam P.; Hughes, Guy; Zhao, Zhefeng; Aleksandrov, Luba A.; Riordan, John R.; Ford, Robert C.

    2011-01-01

    Cystic fibrosis affects about 1 in 2500 live births and involves loss of transmembrane chloride flux due to a lack of a membrane protein channel termed the cystic fibrosis transmembrane conductance regulator (CFTR). We have studied CFTR structure by electron crystallography. The data were compared with existing structures of other ATP-binding cassette transporters. The protein was crystallized in the outward facing state and resembled the well characterized Sav1866 transporter. We identified ...

  11. How Is Cystic Fibrosis Treated?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Cystic Fibrosis Treated? Cystic fibrosis (CF) has no cure. However, ... help oral pancreatic enzymes work better. Treatments for Cystic Fibrosis Complications A common complication of CF is diabetes . ...

  12. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions cystic fibrosis cystic fibrosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Cystic fibrosis is an inherited disease characterized by the buildup ...

  13. Neonatal cystic fibrosis screening test

    Science.gov (United States)

    Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test; CF - screening ... Cystic fibrosis is a disease passed down through families. CF causes thick, sticky mucus to build up in ...

  14. Impact of the [delta]F508 Mutation in First Nucleotide-binding Domain of Human Cystic Fibrosis Transmembrane Conductance Regulator on Domain Folding and Structure

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, Hal A.; Zhao, Xun; Wang, Chi; Sauder, J. Michael; Rooney, Isabelle; Noland, Brian W.; Lorimer, Don; Kearins, Margaret C.; Conners, Kris; Condon, Brad; Maloney, Peter C.; Guggino, William B.; Hunt, John F.; Emtage, Spencer (SG); (Columbia); (JHU)

    2010-07-19

    Cystic fibrosis is caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR), commonly the deletion of residue Phe-508 (DeltaF508) in the first nucleotide-binding domain (NBD1), which results in a severe reduction in the population of functional channels at the epithelial cell surface. Previous studies employing incomplete NBD1 domains have attributed this to aberrant folding of DeltaF508 NBD1. We report structural and biophysical studies on complete human NBD1 domains, which fail to demonstrate significant changes of in vitro stability or folding kinetics in the presence or absence of the DeltaF508 mutation. Crystal structures show minimal changes in protein conformation but substantial changes in local surface topography at the site of the mutation, which is located in the region of NBD1 believed to interact with the first membrane spanning domain of CFTR. These results raise the possibility that the primary effect of DeltaF508 is a disruption of proper interdomain interactions at this site in CFTR rather than interference with the folding of NBD1. Interestingly, increases in the stability of NBD1 constructs are observed upon introduction of second-site mutations that suppress the trafficking defect caused by the DeltaF508 mutation, suggesting that these suppressors might function indirectly by improving the folding efficiency of NBD1 in the context of the full-length protein. The human NBD1 structures also solidify the understanding of CFTR regulation by showing that its two protein segments that can be phosphorylated both adopt multiple conformations that modulate access to the ATPase active site and functional interdomain interfaces.

  15. Cystic Granular Cell Ameloblastoma

    OpenAIRE

    Thillaikarasi, Rathnavel; Balaji, Jayaram; Gupta, Bhawna; Ilayarja, Vadivel; Vani, Nandimandalam Venkata; Vidula, Balachander; Saravanan, Balasubramaniam; Ponniah, Irulandy

    2010-01-01

    Ameloblastoma is a locally aggressive benign epithelial odontogenic tumor, while unicystic ameloblastoma is a relatively less aggressive variant. Although rare in unicystic or cystic ameloblastoma, granular cell change in ameloblastoma is a recognized phenomenon. The purpose of the present article is to report a case of cystic granular cell ameloblastoma in 34-year old female.

  16. Microbiota and metabolite profiling reveal specific alterations in bacterial community structure and environment in the cystic fibrosis airway during exacerbation.

    Science.gov (United States)

    Twomey, Kate B; Alston, Mark; An, Shi-Qi; O'Connell, Oisin J; McCarthy, Yvonne; Swarbreck, David; Febrer, Melanie; Dow, J Maxwell; Plant, Barry J; Ryan, Robert P

    2013-01-01

    Chronic polymicrobial infections of the lung are the foremost cause of morbidity and mortality in cystic fibrosis (CF) patients. The composition of the microbial flora of the airway alters considerably during infection, particularly during patient exacerbation. An understanding of which organisms are growing, their environment and their behaviour in the airway is of importance for designing antibiotic treatment regimes and for patient prognosis. To this end, we have analysed sputum samples taken from separate cohorts of CF and non-CF subjects for metabolites and in parallel, and we have examined both isolated DNA and RNA for the presence of 16S rRNA genes and transcripts by high-throughput sequencing of amplicon or cDNA libraries. This analysis revealed that although the population size of all dominant orders of bacteria as measured by DNA- and RNA- based methods are similar, greater discrepancies are seen with less prevalent organisms, some of which we associated with CF for the first time. Additionally, we identified a strong relationship between the abundance of specific anaerobes and fluctuations in several metabolites including lactate and putrescine during patient exacerbation. This study has hence identified organisms whose occurrence within the CF microbiome has been hitherto unreported and has revealed potential metabolic biomarkers for exacerbation.

  17. Microbiota and metabolite profiling reveal specific alterations in bacterial community structure and environment in the cystic fibrosis airway during exacerbation.

    Directory of Open Access Journals (Sweden)

    Kate B Twomey

    Full Text Available Chronic polymicrobial infections of the lung are the foremost cause of morbidity and mortality in cystic fibrosis (CF patients. The composition of the microbial flora of the airway alters considerably during infection, particularly during patient exacerbation. An understanding of which organisms are growing, their environment and their behaviour in the airway is of importance for designing antibiotic treatment regimes and for patient prognosis. To this end, we have analysed sputum samples taken from separate cohorts of CF and non-CF subjects for metabolites and in parallel, and we have examined both isolated DNA and RNA for the presence of 16S rRNA genes and transcripts by high-throughput sequencing of amplicon or cDNA libraries. This analysis revealed that although the population size of all dominant orders of bacteria as measured by DNA- and RNA- based methods are similar, greater discrepancies are seen with less prevalent organisms, some of which we associated with CF for the first time. Additionally, we identified a strong relationship between the abundance of specific anaerobes and fluctuations in several metabolites including lactate and putrescine during patient exacerbation. This study has hence identified organisms whose occurrence within the CF microbiome has been hitherto unreported and has revealed potential metabolic biomarkers for exacerbation.

  18. Crystal Structure of the Cystic Fibrosis Transmembrane Conductance Regulator Inhibitory Factor Cif Reveals Novel Active-Site Features of an Epoxide Hydrolase Virulence Factor▿ †

    Science.gov (United States)

    Bahl, Christopher D.; Morisseau, Christophe; Bomberger, Jennifer M.; Stanton, Bruce A.; Hammock, Bruce D.; O'Toole, George A.; Madden, Dean R.

    2010-01-01

    Cystic fibrosis transmembrane conductance regulator (CFTR) inhibitory factor (Cif) is a virulence factor secreted by Pseudomonas aeruginosa that reduces the quantity of CFTR in the apical membrane of human airway epithelial cells. Initial sequence analysis suggested that Cif is an epoxide hydrolase (EH), but its sequence violates two strictly conserved EH motifs and also is compatible with other α/β hydrolase family members with diverse substrate specificities. To investigate the mechanistic basis of Cif activity, we have determined its structure at 1.8-Å resolution by X-ray crystallography. The catalytic triad consists of residues Asp129, His297, and Glu153, which are conserved across the family of EHs. At other positions, sequence deviations from canonical EH active-site motifs are stereochemically conservative. Furthermore, detailed enzymatic analysis confirms that Cif catalyzes the hydrolysis of epoxide compounds, with specific activity against both epibromohydrin and cis-stilbene oxide, but with a relatively narrow range of substrate selectivity. Although closely related to two other classes of α/β hydrolase in both sequence and structure, Cif does not exhibit activity as either a haloacetate dehalogenase or a haloalkane dehalogenase. A reassessment of the structural and functional consequences of the H269A mutation suggests that Cif's effect on host-cell CFTR expression requires the hydrolysis of an extended endogenous epoxide substrate. PMID:20118260

  19. Crystal Structure of the Cystic Fibrosis Transmembrane Conductance Regulator Inhibitory Factor Cif Reveals Novel Active-Site Features of an Epoxide Hydrolase Virulence Factor

    Energy Technology Data Exchange (ETDEWEB)

    Bahl, C.; Morisseau, C; Bomberger, J; Stanton, B; Hammock, B; O& apos; Toole, G; Madden, D

    2010-01-01

    Cystic fibrosis transmembrane conductance regulator (CFTR) inhibitory factor (Cif) is a virulence factor secreted by Pseudomonas aeruginosa that reduces the quantity of CFTR in the apical membrane of human airway epithelial cells. Initial sequence analysis suggested that Cif is an epoxide hydrolase (EH), but its sequence violates two strictly conserved EH motifs and also is compatible with other {alpha}/{beta} hydrolase family members with diverse substrate specificities. To investigate the mechanistic basis of Cif activity, we have determined its structure at 1.8-{angstrom} resolution by X-ray crystallography. The catalytic triad consists of residues Asp129, His297, and Glu153, which are conserved across the family of EHs. At other positions, sequence deviations from canonical EH active-site motifs are stereochemically conservative. Furthermore, detailed enzymatic analysis confirms that Cif catalyzes the hydrolysis of epoxide compounds, with specific activity against both epibromohydrin and cis-stilbene oxide, but with a relatively narrow range of substrate selectivity. Although closely related to two other classes of {alpha}/{beta} hydrolase in both sequence and structure, Cif does not exhibit activity as either a haloacetate dehalogenase or a haloalkane dehalogenase. A reassessment of the structural and functional consequences of the H269A mutation suggests that Cif's effect on host-cell CFTR expression requires the hydrolysis of an extended endogenous epoxide substrate.

  20. Crystal structure of the cystic fibrosis transmembrane conductance regulator inhibitory factor Cif reveals novel active-site features of an epoxide hydrolase virulence factor.

    Science.gov (United States)

    Bahl, Christopher D; Morisseau, Christophe; Bomberger, Jennifer M; Stanton, Bruce A; Hammock, Bruce D; O'Toole, George A; Madden, Dean R

    2010-04-01

    Cystic fibrosis transmembrane conductance regulator (CFTR) inhibitory factor (Cif) is a virulence factor secreted by Pseudomonas aeruginosa that reduces the quantity of CFTR in the apical membrane of human airway epithelial cells. Initial sequence analysis suggested that Cif is an epoxide hydrolase (EH), but its sequence violates two strictly conserved EH motifs and also is compatible with other alpha/beta hydrolase family members with diverse substrate specificities. To investigate the mechanistic basis of Cif activity, we have determined its structure at 1.8-A resolution by X-ray crystallography. The catalytic triad consists of residues Asp129, His297, and Glu153, which are conserved across the family of EHs. At other positions, sequence deviations from canonical EH active-site motifs are stereochemically conservative. Furthermore, detailed enzymatic analysis confirms that Cif catalyzes the hydrolysis of epoxide compounds, with specific activity against both epibromohydrin and cis-stilbene oxide, but with a relatively narrow range of substrate selectivity. Although closely related to two other classes of alpha/beta hydrolase in both sequence and structure, Cif does not exhibit activity as either a haloacetate dehalogenase or a haloalkane dehalogenase. A reassessment of the structural and functional consequences of the H269A mutation suggests that Cif's effect on host-cell CFTR expression requires the hydrolysis of an extended endogenous epoxide substrate.

  1. Cystic fibrosis - nutrition

    Science.gov (United States)

    ... in recipes. Add marshmallows to fruit or hot chocolate. Add raisins, dates, or chopped nuts and brown ... AP, Quinton H. Evidence-based practice recommendations for nutrition-related management of children and adults with cystic ...

  2. Epidural Cystic Spinal Meningioma

    Science.gov (United States)

    Zhang, Ji; Chen, Zheng-he; Wang, Zi-feng; Sun, Peng; Jin, Jie-tian; Zhang, Xiang-heng; Zhao, Yi-ying; Wang, Jian; Mou, Yong-gao; Chen, Zhong-ping

    2016-01-01

    Abstract Cystic spinal meningioma (CSM) is an uncommon meningioma variant. Extradural CSMs are particularly rare and difficult to distinguish from other intraaxial tumors. This study presents a case of a 36-year-old woman with intraspinal extradual CSM at the thoracolumbar spine. She experienced persistent weakness, progressive numbness, and sensory disturbance in the right lower limb. Magnetic resonance imaging (MRI) of the patient revealed an irregular cystic mass at the thoracic 11 to lumbar 3 levels dorsally. This case was misdiagnosed as other neoplasms prior to surgery because of the atypical radiographic features and location of the tumor. Extradural CSMs should be considered in the differential diagnosis of intraspinal extradural cystic neoplasms. Complete removal of cystic wall provides an optimal outcome, rendering the lesion curable. PMID:26986119

  3. Cystic Lesions of the Mediastinum.

    Science.gov (United States)

    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.

  4. Ultrasound Imaging of Cystic Nephroma

    Directory of Open Access Journals (Sweden)

    Federico Greco

    2017-07-01

    Full Text Available Cystic nephroma is a rare, benign multicystic lesion of the kidney. This tumor occurs both in children and in adults. In children, it is highly prevalent in males; in adults, it is more frequent in women. The term “cystic nephroma” represents two apparently different entities: pediatric cystic nephroma, a benign form thought to originate from metanephric tissue, and adult cystic nephroma, considered as a lesion of mixed epithelial stromal tumor. The clinical presentation may be a palpable mass or nonspecific symptoms such as abdominal pain, hematuria, and urinary tract infections. In this review, we summarize the ultrasound imaging features of cystic nephroma and describe the characteristics of the most common renal cystic lesions and the differential diagnosis of cystic nephroma with other renal cystic lesions.

  5. Multiple cystic lung disease

    Directory of Open Access Journals (Sweden)

    Flavia Angélica Ferreira Francisco

    2015-12-01

    Full Text Available Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt–Hogg–Dubé; other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management.

  6. Retroperitoneal Cystic Lymphangioma

    Directory of Open Access Journals (Sweden)

    Ş.Sevil Altunrende

    2010-03-01

    Full Text Available Abdominal cystic lymphangioma is a rare, benign, congenital tumor. It is an developmental abnormality of the lymphatic system. Males are relatively more affected and 90% of the cases are under 5 years of age. Multilocular cystic lesion with septations is seen on abdominal ultrasonography. As echogenicity can vary depending on the content of the cyst like cellular debris, hemorrhage or chylous, liquid-liquid or fat-liquid levels can be observed. Definitive treatment is total excision. Cyst aspiration is not an effective method and nearly always ends with recurrence. Computerized tomography and magnetic resonance imaging findings of sonographically detected retroperitoneal cystic lymphangioma in a newborn girl with abdominal distention are discussed in this paper. (The Medical Bulletin of Haseki 2010; 48: 47-9

  7. [Atypical intraperitoneal cystic masses].

    Science.gov (United States)

    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.

  8. Prenatal Diagnosis of Alobar Holoprosencephaly with Cystic Hygroma

    Directory of Open Access Journals (Sweden)

    Tsung-Ying Hsieh

    2006-06-01

    Conclusion: Fetus with holoprosencephaly might have other associated structural abnormalities. Cystic hygroma and hydrops fetalis are rare associations. Meticulous sonographic examination to depict the associated defects are necessary in any fetus with holoprosencephaly.

  9. Primary structure determination of five sialylated oligosaccharides derived from bronchial- mucus glycoproteins of patients suffering from cystic fibrosis. The occurrence of the NeuAcα(2→3)Galα(1→4)[Fucα(1→3)]GlcNAcα(1→.) structural element revealed by 500-MHz 1H NMR spectroscopy

    NARCIS (Netherlands)

    Vliegenthart, J.F.G.; Lamblin, G.; Boersma, A.; Klein, A.; Roussel, P.; Halbeek, H. van

    1984-01-01

    The structure of sialylated carbohydrate units of bronchial mucins obtained from cystic fibrosis patients was investigated by 500-MHz 1H NMR spectroscopy in conjunction with sugar analysis. After subjecting the mucins to alkaline borohydride degradation, sialylated oligosaccharide-alditols were isol

  10. Primary structure determination of five sialylated oligosaccharides derived from bronchial- mucus glycoproteins of patients suffering from cystic fibrosis. The occurrence of the NeuAcα(2→3)Galα(1→4)[Fucα(1→3)]GlcNAcα(1→.) structural element revealed by 500-MHz 1H NMR spectroscopy

    NARCIS (Netherlands)

    Vliegenthart, J.F.G.; Lamblin, G.; Boersma, A.; Klein, A.; Roussel, P.; Halbeek, H. van

    1984-01-01

    The structure of sialylated carbohydrate units of bronchial mucins obtained from cystic fibrosis patients was investigated by 500-MHz 1H NMR spectroscopy in conjunction with sugar analysis. After subjecting the mucins to alkaline borohydride degradation, sialylated oligosaccharide-alditols were

  11. Human Genome Project and cystic fibrosis--a symbiotic relationship.

    Science.gov (United States)

    Tolstoi, L G; Smith, C L

    1999-11-01

    When Watson and Crick determined the structure of DNA in 1953, a biological revolution began. One result of this revolution is the Human Genome Project. The primary goal of this international project is to obtain the complete nucleotide sequence of the human genome by the year 2005. Although molecular biologists and geneticists are most enthusiastic about the Human Genome Project, all areas of clinical medicine and fields of biology will be affected. Cystic fibrosis is the most common, inherited, lethal disease of white persons. In 1989, researchers located the cystic fibrosis gene on the long arm of chromosome 7 by a technique known as positional cloning. The most common mutation (a 3-base pair deletion) of the cystic fibrosis gene occurs in 70% of patients with cystic fibrosis. The knowledge gained from genetic research on cystic fibrosis will help researchers develop new therapies (e.g., gene) and improve standard therapies (e.g., pharmacologic) so that a patient's life span is increased and quality of life is improved. The purpose of this review is twofold. First, the article provides an overview of the Human Genome Project and its clinical significance in advancing interdisciplinary care for patients with cystic fibrosis. Second, the article includes a discussion of the genetic basis, pathophysiology, and management of cystic fibrosis.

  12. Florid Cystic Endosalpingiosis (Müllerianosis) in Pregnancy

    Science.gov (United States)

    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

  13. Cystic lesion around the hip joint

    Science.gov (United States)

    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

  14. Cystic fibrosis. Diagnosis.

    Directory of Open Access Journals (Sweden)

    Luis Ortigosa

    2009-11-01

    Full Text Available Cystic fibrosis (CF is one of the most frequent inherited mortal diseases in Caucasian population. Dysfunction in exocrine glands is described in CF patients, with severe pancreatic insufficiency and chronic lung disease. CF is inherited as an autosomal recessive disorder. More than 1000 disease-associated mutations in the cystic fibrosis transmembrane conductance regulator (CFTR gene have been described. DF508 mutation is the most common mutation in the CF gen. Diagnosis in CF is based on clinical and laboratory tests findings. Meconial ileus, CF in other relatives, chronic lung disease, congenital absence of the vas deferens with azoospermia are among other clinical findings, main criteria in CF patients. Two positive results in sweat chloride test , or demonstration in nasal epithelial ionic transport alteration (nasal potential difference and identification of two CF mutations in the patient are laboratory findings in CF.

  15. Abdominal cystic lymphangioma mimicking appendicitis.

    Science.gov (United States)

    Wake, Sarah; Abhyankar, Aruna; Hutton, Kim

    2013-06-01

    A cystic lymphangioma arising within the abdomen is a rare entity in children. It may present with an abdominal mass and symptoms of abdominal pain, vomiting, and anorexia. These nonspecific clinical symptoms are often attributed to more common acute pediatric conditions. In this report, we describe two pediatric cases of intra-abdominal cystic lymphangioma that were initially diagnosed and treated as appendicitis. True diagnosis was only achieved on surgical excision and pathological investigation of cystic material.

  16. [News in cystic fibrosis].

    Science.gov (United States)

    Delaisi, B

    2013-08-01

    The improvement over the last two decades in the treatment of cystic fibrosis led to an increase in life expectancy approaching 40 years at birth. Logically, the population of adult patients has been increasing and is currently 50% of patients followed in France. These therapeutic advances have justified the establishment in 2003 of a generalized neonatal screening for cystic fibrosis. The latest data of this screening show an incidence of CF of 1/5359 live births, far below the incidence of 1/2500 which was widely accepted twenty years ago. The performance of this screening is currently based on the dosage of trypsin immuno reactive, followed in case of exceeding the threshold of a search of the 30 most common mutations, can detect around 96% of 150 to 200 CF cases every year. Therefore, the possibility of a false negative of the screening cannot be excluded and evocative symptoms of cystic fibrosis, even for children born after 2003, will lead to prescribe a sweat test. While treatments available so far goal consequences of cystic fibrosis, a new therapeutic class to correct the functional defect of the mutated protein, called CFTR modulators, is emerging. Ivacaftor, leader of this new class, belonging to the category of "CFTR potentiator" got its access on the market in September 2012 for patients carrying the G551D mutation. New other molecules, named "CFTR correctors" which can have synergistic effect with ivacaftor and concern patients carrying the most common mutation--DF 508--are under development. Copyright © 2013. Published by Elsevier Masson SAS.

  17. Molecular Diagnosis of Cystic Fibrosis.

    Science.gov (United States)

    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.

  18. Cystic fibrosis and sleep.

    Science.gov (United States)

    Katz, Eliot S

    2014-09-01

    Sleep disturbances are frequently observed in cystic fibrosis (CF). The resultant sleep fragmentation, short sleep duration, and gas-exchange abnormalities are postulated to contribute to the neurocognitive, cardiovascular, and metabolic abnormalities associated with CF. There are no outcomes data to establish the optimal procedure for screening and treating CF patients for sleep-related respiratory abnormalities. Therapy with supplemental oxygen and bilevel ventilation are widely considered to be effective in the short term, but there are few evidence-based data to support long-term improvements in morbidity and mortality. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. [Cystic pyeloureteritis. Our approach].

    Science.gov (United States)

    Castillo Jimeno, J M; González de Garibay, A S; Ruiz Rubio, J L; Sebastián Borruel, J L

    1992-05-01

    We report a case of massive cystic pyeloureteritis that had been diagnosed by ureterorenoscopy in a patient with recurrent urinary infection and episodes of nephritic colic. The reports published in the literature indicate there is no specific treatment for this disease whose etiology is unknown. Its pathogenesis has not been well-established and it is difficult to distinguish from other urothelial filling defects. Although it has also been reported that it may progress to malignancy, we believe that the therapeutic approach should be conservative.

  20. Childhood abdominal cystic lymphangioma

    Energy Technology Data Exchange (ETDEWEB)

    Konen, Osnat; Rathaus, Valeria; Shapiro, Myra [Department of Diagnostic Imaging, Meir General Hospital, Sapir Medical Centre, Kfar Saba (Israel); Dlugy, Elena [Department of Paediatric Surgery, Schneider Medical Centre, Sackler School of Medicine, Tel-Aviv University (Israel); Freud, Enrique [Department of Paediatric Surgery, Sapir Medical Centre, Sackler School of Medicine, Tel-Aviv University (Israel); Kessler, Ada [Department of Diagnostic Imaging, Sourasky Medical Centre, Tel-Aviv (Israel); Horev, Gadi [Department of Diagnostic Imaging, Schneider Medical Centre, Tel-Aviv (Israel)

    2002-02-01

    Background: Abdominal lymphangioma is a rare benign congenital malformation of the mesenteric and/or retroperitoneal lymphatics. Clinical presentation is variable and may be misleading; therefore, complex imaging studies are necessary in the evaluation of this condition. US and CT have a major role in the correct preoperative diagnosis and provide important information regarding location, size, adjacent organ involvement, and expected complications. Objective: To evaluate the clinical and imaging findings of seven children with proven abdominal cystic lymphangioma. Materials and methods: Clinical and imaging files of seven children with pathologically proven abdominal lymphangioma, from three university hospitals, were retrospectively evaluated. Patient's ages ranged from 1 day to 6 years (mean, 2.2 years). Symptoms and signs included evidence of inflammation, abnormal prenatal US findings, chronic abdominal pain, haemorrhage following trauma, clinical signs of intestinal obstruction, and abdominal distension with lower extremities lymphoedema. Plain films of five patients, US of six patients and CT of five patients were reviewed. Sequential imaging examinations were available in two cases. Results: Abdominal plain films showed displacement of bowel loops by a soft tissue mass in five of six patients, two of them with dilatation of small bowel loops. US revealed an abdominal multiloculated septated cystic mass in five of six cases and a single pelvic cyst in one which changed in appearance over 2 months. Ascites was present in three cases. CT demonstrated a septated cystic mass of variable sizes in all available five cases. Sequential US and CT examinations in two patients showed progressive enlargement of the masses, increase of fluid echogenicity, and thickening of walls or septa in both cases, with multiplication of septa in one case. At surgery, mesenteric lymphangioma was found in five patients and retroperitoneal lymphangioma in the other two

  1. Nutritional Issues in Cystic Fibrosis.

    Science.gov (United States)

    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.

  2. Intraosseous calcifying cystic odontogenic tumor

    Directory of Open Access Journals (Sweden)

    Kler Shikha

    2009-01-01

    Full Text Available The calcifying odontogenic cyst was first reported by Gorlin et al . in 1962. It had been classified as a neoplasm related to the odontogenic apparatus because of its histological complexity and morphological diversity until it was renamed as a calcifying cystic odontogenic tumor by the WHO, in 2005. Here we describe a case of mandibular calcifying cystic odontogenic tumor in a 75-year-old male, which was present since five years, with a history of occurrence after the extraction of teeth in the involved region. The lesion was surgically removed and a histopathological examination revealed a cystic tumor with predominance of ghost cells and some amount of dentinoid tissue.

  3. First-trimester septated cystic hygroma and cavum velum interpositum cyst.

    Science.gov (United States)

    Sherer, David M; Dalloul, Mudar; Miller, Michelle J; Kheyman, Mila; Zinn, Harry L; Abulafia, Ovadia

    2011-07-01

    First-trimester septated cystic hygroma, frequently noted during general obstetric first-trimester screening, is strongly associated with fetal aneuploidy and structural anomalies and is considered an ominous finding. We present the case of a fetus with a first-trimester septated cystic hygroma and cavum velum interpositum cyst.

  4. Cystic fibrosis transmembrane conductance regulator protein expression in the male excretory duct system during development.

    Science.gov (United States)

    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.

  5. Profile of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Mona M. El-Falaki

    2014-09-01

    Full Text Available It was generally believed that Cystic fibrosis (CF is rare among Arabs; however, the few studies available from Egypt and other Arabic countries suggested the presence of many undiagnosed patients. The aim of the present study was to determine the frequency of CF patients out of the referred cases in a single referral hospital in Egypt. A total of 100 patients clinically suspected of having CF were recruited from the CF clinic of the Allergy and Pulmonology Unit, Children’s Hospital, Cairo University, Egypt, throughout a 2 year period. Sweat chloride testing was done for all patients using the Wescor macroduct system for collection of sweat. Quantitative analysis for chloride was then done by the thiocyanate colorimetric method. Patients positive for sweat chloride (⩾60 mmol/L were tested for the ΔF508 mutation using primer specific PCR for cystic fibrosis transmembrane conductance regulator (CFTR gene. Thirty-six patients (36% had a positive sweat chloride test. The main clinical presentations in patients were chronic cough in 32 (88.9%, failure to thrive in 27 (75%, steatorrhea in 24 (66.7%, and hepatobiliary involvement in 5 (13.9%. Positive consanguinity was reported in 50% of CF patients. Thirty-two patients were screened for ΔF508 mutation. Positive ΔF508 mutation was detected in 22 (68.8% patients, 8 (25% were homozygous, 14 (43.8% were heterozygous, and 10 (31.3% tested were negative. CF was diagnosed in more than third of patients suspected of having the disease on clinical grounds. This high frequency of CF among referred patients indicates that a high index of suspicion and an increasing availability of diagnostic tests lead to the identification of a higher number of affected individuals.

  6. [Cystic lymphangioma of the scrotum].

    Science.gov (United States)

    Oliver Llinares, F; Roques Serradilla, J L; Ruíz Jiménez, J I; Desus Ruíz, J; Segarra Llido, V

    1980-01-01

    The authors present a case of cystic lymphangioma of the scrotum. They stress the rarity of this location. They also comment upon the embriology, clinical picture and treatment of these benign tumours.

  7. [Lung physiotherapy in cystic fibrosis].

    Science.gov (United States)

    Gursli, S; Haanaes, O C

    1991-02-28

    This article is intended as a brief practical guide for physicians and physiotherapists concerned with the treatment of cystic fibrosis. Physiotherapeutic techniques for the treatment of chest diseases have been developed and modified as advances have taken place in the medical management of cystic fibrosis. The article describes forced expiratory technique, positive expiratory pressure, postural drainage, autogenic drainage and other techniques. Patients with cystic fibrosis live longer and have a better quality of life than ever before, but progressive deterioration of lung function will always be their most serious problem. Physical activity and chest physiotherapy are essential parts of all treatment regimens for cystic fibrosis. It is important to realize that the physiotherapist is a very important member of the team which includes nurses, physicians-and the patient.

  8. Abdominal Cystic Lymphangioma Mimicking Appendicitis

    OpenAIRE

    Wake, Sarah; Abhyankar, Aruna; Hutton, Kim

    2013-01-01

    A cystic lymphangioma arising within the abdomen is a rare entity in children. It may present with an abdominal mass and symptoms of abdominal pain, vomiting, and anorexia. These nonspecific clinical symptoms are often attributed to more common acute pediatric conditions. In this report, we describe two pediatric cases of intra-abdominal cystic lymphangioma that were initially diagnosed and treated as appendicitis. True diagnosis was only achieved on surgical excision and pathological investi...

  9. Alveolar inflammation in cystic fibrosis

    DEFF Research Database (Denmark)

    Ulrich, Martina; Worlitzsch, Dieter; Viglio, Simona

    2010-01-01

    BACKGROUND: In infected lungs of the cystic fibrosis (CF) patients, opportunistic pathogens and mutated cystic fibrosis transmembrane conductance regulator protein (CFTR) contribute to chronic airway inflammation that is characterized by neutrophil/macrophage infiltration, cytokine release...... accumulated in type II alveolar epithelial cells, lacking CFTR. P. aeruginosa organisms were rarely present in inflamed alveoli. CONCLUSIONS: Chronic inflammation and remodeling is present in alveolar tissues of the CF lung and needs to be addressed by anti-inflammatory therapies....

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

    Science.gov (United States)

    ... Twitter. What Are the Signs and Symptoms of Cystic Fibrosis? The signs and symptoms of cystic fibrosis (CF) ... respiratory, digestive, or reproductive systems of the body. Cystic Fibrosis Figure A shows the organs that cystic fibrosis ...

  11. Effect of ginsenoside-Rg1 on the proliferation of paraurethral fascia fibroblasts derived from women suffering from stress urinary incontinence%人参皂甙Rg1对压力性尿失禁患者尿道旁筋膜成纤维细胞增殖的影响

    Institute of Scientific and Technical Information of China (English)

    吴冬梅; 宋岩峰

    2008-01-01

    Objective To investigate the effect of ginsenoside-Rgl on paraurethral fascia fibroblastsmultiplication and the expression of proliferation cell nuclear antigen (PCNA) of stress urinary incontinence(SUI) women in vitro. Methods Specimens of human paraurethral fascia were obtained from 4 SUI womenduring tension-free vaginal tape (TVT) or tension-free vaginal tape-obturator (TVT-O) procedure.Fibroblasts were isolated and cultured by outgrowth technique. After reaching confluency fibroblasts weresubcultured every 5 days and cells after passage number 3 to 5 were used for assessment. The paraurethralfascia fibroblasts were treated with ginsenoside-Rgl at different concentrations (5, 10, 20 μmol/L) andfibroblnsts without Rgl were used as controL The multiplication conditions of paraurethral fascia fibroblastswere respectively detected by methyl thiazolyl tetrazolium (MTr) assay and the expression of PCNA byhistochemistry. Results ( 1 ) Compared with the control group, the growth rate of cells treated with differentconcentrations of Rgl after 72h [ (29±5 )%, (40±5 )%, (26±4)% respectively ] was significantly higher(P0.05).(2)同一浓度人参皂甙Rg1组培养48 h后的细胞增殖率与培养24 h时比较,差异均有统计学意义(P<0.01);培养72 h后与培养48 h时比较,差异也均有统计学意义(P<0.01).(3)5 μmoL/L组、10 μmol/L组及20 μmol/L组培养48 h后的PCNA阳性率分别为49.24%、83.48%和54.50%,分别与对照组(28.77%)比较,差异均有统计学意义(P<0.01);10 μmol/L组与5μmol/L组、20 μmol/L组分别比较,差异也有统计学意义(P<0.01).结论 人参皂甙Rg1可促进体外培养的SUI患者尿道旁筋膜成纤维细胞的增殖.

  12. Cystic thymic diseases: CT manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Song, Soon Young; Choi, Yo Won; Jeon, Eui Yong; Jeon, Seok Chol; Seo, Heung Suk; Hahm, Chang Kok [School of Medicine, Hanyang University, Seoul (Korea, Republic of)

    1995-09-15

    To describe CT findings and differential points of cystic thymic lesions. We evaluated retrospectively total 19 masses with well marginated cystic lesions at thymic area on CT scans. They were 10 teratomas, 3 congenital thymic cysts, 2 multilocular thymic cysts(associated with thymoma and myasthenia gravis in each), 2 cysts Assciated with thymic Hodgkin's lymphomas an ectopic parathyroid cyst, and an infected thymic cyst. The radiological abnormalities evaluated were thickness of the wall, presence or abscene of septa, mural nodule, solid component, calcification and fat component. All three cases of congenital thymic cysts and an ectopic parathyroid cyst appeared as thin-walled unilocular cyst with homogeneous internal density and without identifiable solid component. In multilocular thymic cyst, there were thick wall and solid components(n =2), thick internal septa and calcifications(n = 1). The cysts of teratomas manifested thick walls(n = 9), internal septa(n = 4), calcifications(n = 6), fat components(n = 4), and solid components(n = 4). Cysts in Hodgkin's diseases appeared as multilocular or unilocular and had thick wall and septa without calcification. Infected thymic cyst presented with multilocular cystic mass with identifiable wall and septa, calcification, and solid components. The thymic diseases with cystic lesion include teratomas, congenital thymic cysts, multilocular thymic cysts, parathyroid cyst, and Hodgkin's disease. Congenital thymic cyst and ectopic parathyroid cyst are thin-walled unilocular cystic lesions. Cystic lesions associated with teratoma, Hodgkin's disease, and multilocular thymic cyst are thick-walled cystic lesions with or without solid component.

  13. PULMONARY CYSTIC ECHINOCOCCOSIS

    Science.gov (United States)

    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

  14. A RARE CASE OF ADENOID CYSTIC CARCINOMA OF ETHMOID SINUS

    Directory of Open Access Journals (Sweden)

    Bharath

    2013-02-01

    Full Text Available ABSTRACT: Adenoid cystic carcinoma is more common in minor sa livary glands, uncommon in parotid gland and rare in paranasal sinuses. These ar e more aggressive and fatal. Such tumors of the accessory nasal sinuses causing proptosis have be en reported so rarely in ophthalmic literature. An adult aged 31 years presented with pro ptosis of right eye, nasal obstruction and bleeding from right nose. CT scan showed soft tissu e attenuation mass with destruction of bony structures and extension to right orbit. Biopsy was done through trans nasal route. A histological diagnosis of Adenoid cystic carcinoma of ethmoid sinus was made

  15. Mucinous Cystic Neoplasms of Pancreas

    Science.gov (United States)

    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.

  16. Cystic Lesions in Autoimmune Pancreatitis

    Directory of Open Access Journals (Sweden)

    Macarena Gompertz

    2015-11-01

    Full Text Available 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.

  17. Diagnostic and radiological management of cystic pancreatic lesions: Important features for radiologists

    Energy Technology Data Exchange (ETDEWEB)

    Buerke, B., E-mail: buerkeb@uni-muenster.de [Department of Clinical Radiology, University of Muenster, Muenster (Germany); Domagk, D. [Department of Medicine B, University of Muenster, Muenster (Germany); Heindel, W.; Wessling, J. [Department of Clinical Radiology, University of Muenster, Muenster (Germany)

    2012-08-15

    Cystic pancreatic neoplasms are often an incidental finding, the frequency of which is increasing. The understanding of such lesions has increased in recent years, but the numerous types of lesions involved can hinder differential diagnosis. They include, in particular, intraductal papillary mucinous neoplasms (IPMN), serous cystic neoplasms (SCN), and mucinous cystic neoplasms (MCN). Knowledge of their histological and radiological structure, as well as distribution in terms of localization, age, and sex, helps to differentiate such tumours from common pancreatic pseudocysts. Several types of cystic pancreatic neoplasms can undergo malignant transformation and, therefore, require differentiated radiological management. This review aims to develop a broader understanding of the pathological and radiological characteristics of cystic pancreatic neoplasms, and provide a guideline for everyday practice based on current concepts in the radiological management of the given lesions.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  20. Cystic Fibrosis (CF): Chloride Sweat Test

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Cystic Fibrosis (CF) Chloride Sweat Test KidsHealth > For Parents > Cystic Fibrosis (CF) Chloride Sweat Test Print A A A ... It Is A chloride sweat test helps diagnose cystic fibrosis (CF) , an inherited disorder that makes kids sick ...

  1. What's it Like to Have Cystic Fibrosis?

    Science.gov (United States)

    ... Emergency Room? What Happens in the Operating Room? Cystic Fibrosis KidsHealth > For Kids > Cystic Fibrosis Print A A A What's in this article? ... with a condition she's known all her life — cystic fibrosis (say: SIS-tik fi-BRO-sus). Her parents ...

  2. Cohort Study of Airway Mycobiome in Adult Cystic Fibrosis Patients: Differences in Community Structure between Fungi and Bacteria Reveal Predominance of Transient Fungal Elements

    Science.gov (United States)

    Sauer-Heilborn, Annette; Welte, Tobias; Guzman, Carlos A.; Abraham, Wolf-Rainer; Höfle, Manfred G.

    2015-01-01

    The respiratory mycobiome is an important but understudied component of the human microbiota. Like bacteria, fungi can cause severe lung diseases, but their infection rates are much lower. This study compared the bacterial and fungal communities of sputum samples from a large cohort of 56 adult patients with cystic fibrosis (CF) during nonexacerbation periods and under continuous antibiotic treatment. Molecular fingerprinting based on single-strand conformation polymorphism (SSCP) analysis revealed fundamental differences between bacterial and fungal communities. Both groups of microorganisms were taxonomically classified by identification of gene sequences (16S rRNA and internal transcript spacer), and prevalences of single taxa were determined for the entire cohort. Major bacterial pathogens were frequently observed, whereas fungi of known pathogenicity in CF were detected only in low numbers. Fungal species richness increased without reaching a constant level (saturation), whereas bacterial richness showed saturation after 50 patients were analyzed. In contrast to bacteria, a large number of fungal species were observed together with high fluctuations over time and among patients. These findings demonstrated that the mycobiome was dominated by transient species, which strongly suggested that the main driving force was their presence in inhaled air rather than colonization. Considering the high exposure of human airways to fungal spores, we concluded that fungi have low colonization abilities in CF, and colonization by pathogenic fungal species may be considered a rare event. A comprehensive understanding of the conditions promoting fungal colonization may offer the opportunity to prevent colonization and substantially reduce or even eliminate fungus-related disease progression in CF. PMID:26135861

  3. Cystic echinococcosis of the liver

    DEFF Research Database (Denmark)

    Branci, Sonia; Ewertsen, Caroline; Thybo, Søren

    2012-01-01

    Cystic echinococcosis (CE) of the liver can be treated with ultrasound-guided puncture, aspiration, injection, and re-aspiration (PAIR), with surgery and with benzimidazole derivatives. The aim of this study was to review available data concerning treatment modality and outcome for patients treat...

  4. Lung transplantation for cystic fibrosis

    NARCIS (Netherlands)

    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

  5. Lactate in cystic fibrosis sputum

    DEFF Research Database (Denmark)

    Bensel, Tobias; Stotz, Martin; Borneff-Lipp, Marianne

    2011-01-01

    Antibiotic therapy is thought to improve lung function in patients with cystic fibrosis (CF) by decreasing neutrophil-derived inflammation. We investigated the origin and clinical significance of lactate in the chronically inflamed CF lung. Methods Lactate was measured in sputa of 18 exacerbated ...

  6. Cystic echinococcosis of the liver

    DEFF Research Database (Denmark)

    Branci, Sonia; Ewertsen, Caroline; Thybo, Søren;

    2012-01-01

    Cystic echinococcosis (CE) of the liver can be treated with ultrasound-guided puncture, aspiration, injection, and re-aspiration (PAIR), with surgery and with benzimidazole derivatives. The aim of this study was to review available data concerning treatment modality and outcome for patients treated...... for CE of the liver in a Danish tertiary reference center....

  7. Pseudomembranous colitis in cystic fibrosis.

    Science.gov (United States)

    Nagakumar, Prasad

    2013-05-01

    Cystic fibrosis (CF) patients may require frequent courses of antibiotics and repeated hospital admissions. Although children with CF have high carriage rate for C.difficile, they rarely develop colitis. Pseudomembranous colitis is more common in adult post lung transplant CF patients. Although rare, paseudomembranous colitis should be considered in CF patients presenting with abdominal symptoms even in the absence of diarrhoea.

  8. Experimental investigation of the flow of bile in patient specific cystic duct models.

    Science.gov (United States)

    Al-Atabi, Mushtak; Chin, S B; Luo, X Y

    2010-04-01

    Three-dimensional scaled-up transparent models of three human cystic ducts were prepared on the basis of anatomical specimens. The measurement of pressure drop across the cystic duct models and visualization of the flow structures within these ducts were performed at conditions replicating the physiological state. The flow visualization study confirmed the laminar nature of the flow of bile inside the cystic duct and values of pressure drop coefficient (Cp) decreased as the Reynolds number (Re) increased. The three tested models showed comparable behavior for the curve of Reynolds number versus the pressure drop coefficient. The results show that the tested cystic ducts have both increased pressure drop and complicated flow structures when compared with straight conduits. High resistance in a cystic duct may indicate that the gallbladder has to exert large force in expelling bile to the cystic duct. For patients with diseased gallbladder, and even in healthy persons, gallbladder is known to stiffen with age and it may lose its compliance or flexibility. A high resistance cystic duct coupled with a stiffened gallbladder may result in prolonged stasis of bile in the gallbladder, which is assumed to encourage the formation of gallstones.

  9. New and emerging targeted therapies for cystic fibrosis.

    Science.gov (United States)

    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.

  10. [Therapeutic update in cystic fibrosis].

    Science.gov (United States)

    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. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by

  11. Treatment of cystic craniopharyngioma with 90Y-Colloid. Four clinical cases.

    Science.gov (United States)

    Sabaté-Llobera, A; Rojas-Camacho, J G; Mora Salvadó, J; Acebes Martín, J J; Rodríguez-Gasén, A; Ramal Leiva, D; Martín-Comín, J

    2013-01-01

    Craniopharyngioma is a histologically benign and frequently cystic intracranial tumor. It may present aggressive behavior due to compression from nearby structures. Its therapeutic management is complicated because although surgery is the usual treatment of choice, it is not exempt of high morbidity and mortality and frequent tumor recurrence. In craniopharyngiomas with a significant cystic component,internal irradiation with radioactive isotopes is a therapeutic alternative to conventional treatments. We present the cases of four patients with cystic craniopharyngiomas who were treated with intracystic administration of 90Y-colloid, and their evolution after the treatment. Copyright © 2012 Elsevier España, S.L. and SEMNIM. All rights reserved.

  12. Hyperbilirubinemia associated with a cystic abdominal mass in a 6-week-old girl: case report.

    Science.gov (United States)

    Schleef, J; Oleszuk-Raschke, K; Morcate, J J; Steinau, G; Willital, G H

    1998-12-01

    Abdominal cysts in girls are frequently observed by abdominal ultrasound (US) and are usually ovarian. In this case a cystic structure located in the right abdomen was seen in a female newborn without symptoms and was initially described as a possible ovarian cyst. Frequent US examinations showed an increase in volume and diameter, and temporary, recurring episodes of hyperbilirubinemia were observed. The US scans showed no relationship to the biliary tree. During a diagnostic laparoscopy, a cystic structure attached to the pyloric region was seen. A laparotomy revealed a cystic duplication of the stomach, which could be resected completely. The finding is discussed emphasizing the importance of clinical findings and diagnostic methods in the diagnosis and management of abdominal cystic masses in females.

  13. Structure, histochemistry and ultrastructure of the male reproductive accessory glands in the neotropical flat-faced fruit-eating bat Artibeus planirostris (Chiroptera: Phyllostomidae).

    Science.gov (United States)

    Puga, Cíntia C I; Beguelini, Mateus R; Negrin, Ana C; Christante, Caroline M; Morielle-Versute, Eliana; Vilamaior, Patricia S L; Taboga, Sebastião R

    2013-01-01

    Chiroptera, the second largest mammalian order, presents different reproductive strategies and unique reproductive features. However, there are few reports regarding male reproductive accessory glands (RAGs) in Chiroptera. Thus, the aim of the present study was to characterise the RAGs of the exclusively neotropical bat Artibeus planirostris (Chiroptera: Phyllostomidae) macroscopically, microscopically and ultrastructurally. The RAGs were composed of a prostatic complex with two regions (ventral and dorsal) and paraurethral and bulbourethral glands, but no seminal vesicles. The ventral region had an undefined epithelium, with secretory and basal cells, and its secretions were periodic acid-Schiff (PAS) positive. The dorsal region received both deferens ducts, had a columnar pseudostratified epithelium with secretory and basal cells. There were two types of secretions from the dorsal region: one that was basophilic and another that was mixed PAS positive and PAS negative. The paraurethral glands were dispersed in the connective tissue of the urethra, whereas the bulbourethral glands were located in the penile root. Histological and ultrastructural data confirmed the prostatic nature of the ventral and dorsal regions and the holocrine nature of the ventral region, with the latter finding never having been described previously for the prostate gland. Our findings demonstrate the wide discrepancy of RAGs between A. planirostris and other mammals in terms of their composition, structure and morphology.

  14. Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

    NARCIS (Netherlands)

    Dequeker, E; Cuppens, H; Dodge, J; Estivill, [No Value; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ

    These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external

  15. CT findings and differential diagnosis of cystic neck masses

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Ji Yeon; Lee, Kil Jun; Jeong, Seong Ki; Han, Seong Nim; Tae, Seok; Shin, Kyoung Ja; Lee, Sang Chun [Seoul Red Cross Hospital, Seoul (Korea, Republic of)

    1995-10-15

    The purpose of this study is to analyze the CT features of the cystic masses in the neck and to review differential diagnosis. We retrospectively reviewed and analyzed the CT findings of 22 histopathologically proved, cystic neck masses in regard to the location in fascial plane and relationship with adjacent organ. Of 22 cases, ten congenital cysts two ranulas, seven inflammatory lesions, and three solid tumors were included. Ten congenital cystic masses were located in typical locations as branchial cleft cyst (5) in mandibular angle, thyroglossal duct cyst (3) in visceral space embeded within the strap muscles, cystic hygroma (1) and cavernous hemangioma (1) in posterior cervical space with insinuating appearance. Two cases of ranula included one simple ranula localized in sublingual space and a plunging ranula extending to adjacent submandibular space. Seven cases of inflammatory lesions were characterized by multispatial locations and good contrast-enhancement of walls and adjacent tissue. Solid masses of low density mimicking cyst were two pleomorphic adenomas of submandibular gland and one neurilemmoma. It is considered that thorough analysis of the CT findings with attention to typical location, CT appearance, and the relationship with the adjacent structures usually leads to the correct diagnosis.

  16. Cystic fibrosis from the gastroenterologist's perspective.

    Science.gov (United States)

    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.

  17. Facial cystic lymphangioma in adults.

    Science.gov (United States)

    Biasotto, Matteo; Clozza, Emanuele; Tirelli, Giancarlo

    2012-07-01

    Lymphangiomas are uncommon congenital malformations of the lymphatic system, generally diagnosed during childhood. These malformations are rarely seen in adults, and the literature provides poor guidelines for treatment options that must be carefully applied to the facial region. Diagnosis in adult subjects is difficult to achieve, and also management of these conditions is still challenging because they tend to infiltrate adjacent tissues, causing frequent relapses. Radical surgery is the main form of treatment, avoiding the sacrifice of function or aesthetics of the patient. Two cases of cystic lymphangioma of the facial region found in adults are described from a clinical and pathologic point of view. The aim of this article was to point out that an early recognition of cystic lymphangioma is a crucial goal to initiate a prompt treatment avoiding serious complication.

  18. [Historical compilation of cystic fibrosis].

    Science.gov (United States)

    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. Copyright © 2015 Elsevier España, S.L.U. and AEEH y AEG. All rights reserved.

  19. Posttraumatic Cranial Cystic Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Arata Tomiyama

    2011-01-01

    Full Text Available A 14-year-old was girl admitted to our hospital with a subcutaneous mass of the occipital head. The mass had grown for 6 years, after she had sustained a head injury at the age of 6, and was located directly under a previous wound. Skull X-ray Photograph (xp, computed tomography (CT, and magnetic resonance imaging (MRI showed a bony defect and cystic changes in the skull corresponding to a subcutaneous mass. Bone scintigraphy revealed partial accumulation. The patient underwent total removal of the skull mass, and the diagnosis from the pathological findings of the cyst wall was fibrous dysplasia (FD. The radiographic findings for cystic cranial FD can be various. Progressive skull disease has been reported to be associated with head trauma, but the relationship between cranial FD and head trauma has not been previously reported. Previous studies have suggested that c-fos gene expression is a key mechanism in injury-induced FD.

  20. Male Breast Adenoid Cystic Carcinoma

    Directory of Open Access Journals (Sweden)

    Seung Jin Yoo

    2013-10-01

    Full Text Available Introduction: Adenoid cystic carcinoma (ACC of the breast is a rare condition, and cases in male patients are even less common. Case: We describe a case of ACC of the breast with axillary lymph node metastasis, disseminated osteolytic bone metastasis and bone marrow involvement in a 41-year-old man. Conclusion: Male breast ACC is an extremely rare malignancy; there can be difficulty in obtaining a final diagnosis. We report this case because of its rarity.

  1. The Sociology and Entrenchment. A Cystic Fibrosis Test for Everyone?

    DEFF Research Database (Denmark)

    Koch, Lene; Stemerding, Dirk

    1994-01-01

    Socialmedicine, genetic screening, cystic fibrosis, ethics, political regulation, sociology of technology......Socialmedicine, genetic screening, cystic fibrosis, ethics, political regulation, sociology of technology...

  2. Pseudomonas aeruginosa biofilms in cystic fibrosis

    DEFF Research Database (Denmark)

    Høiby, Niels; Ciofu, Oana; Bjarnsholt, Thomas

    2010-01-01

    The persistence of chronic Pseudomonas aeruginosa lung infections in cystic fibrosis (CF) patients is due to biofilm-growing mucoid (alginate-producing) strains. A biofilm is a structured consortium of bacteria, embedded in a self-produced polymer matrix consisting of polysaccharide, protein...... and DNA. In CF lungs, the polysaccharide alginate is the major part of the P. aeruginosa biofilm matrix. Bacterial biofilms cause chronic infections because they show increased tolerance to antibiotics and resist phagocytosis, as well as other components of the innate and the adaptive immune system....... As a consequence, a pronounced antibody response develops, leading to immune complex-mediated chronic inflammation, dominated by polymorphonuclear leukocytes. The chronic inflammation is the major cause of the lung tissue damage in CF. Biofilm growth in CF lungs is associated with an increased frequency...

  3. Inverted cystic tubulovillous adenoma involving Brunner's glands of duodenum

    Institute of Scientific and Technical Information of China (English)

    Ji Hoon Kim; Jong-Jae Park; Jung Woo Choi; Yeon Seok Seo; Beom Jae Lee; Jong Fun Yeon; Jae Seon Kim; Kwan Soo Byun; Young-Tae Bak; Insun Kim

    2007-01-01

    Benign neoplasia of the duodenum are very rare.Moreover, duodenal tubulovillous adenomas are more uncommon lesions. The microscopic structure of tubulovillous adenoma has frond-like projection of mucosa with branching papillary structure and generally upward growth into the lumen. We describe a 72-year-old man who showed aduodenal tubulovillous adenoma with unusual inverted cystic growth pattern.Interestingly, this tubulovillous adenomatous lesion was interrupted by gastric metaplasia in the deep portion of the cyst and was closely surrounded by Brunner's glands. Although histogenesis of gastric metaplasia of duodenum is not fully understood, Brunner's glands has been suggested as a precursor for gastric metaplasia.Therefore, these findings argued that this adenoma arises from Brunner's glands through gastric metaplasia.This is the first case of inverted cystic tubulovillous adenoma involving Brunner's glands of duodenum with gastric metaplasia.

  4. Increased Congregational Support for Parents of Children with Cystic Fibrosis

    OpenAIRE

    Szczesniak, Rhonda D.; Zou, Yuanshu; Wetzel, J. Denise; Krause, Neal; Grossoehme, Daniel H.

    2015-01-01

    Positive health outcomes are related to adults’ religious congregational participation. For parents of children with chronic disease, structured daily care routines and or strict infection-control precautions may limit participation. For this exploratory study, we examined the relationship between congregational support and religious coping by parents of children with cystic fibrosis (CF) compared to parents for whom child health issues were not significant stressors. CF parents reported high...

  5. Outcome in cystic fibrosis liver disease.

    LENUS (Irish Health Repository)

    Rowland, Marion

    2011-01-01

    Evidence suggests that cystic fibrosis liver disease (CFLD) does not affect mortality or morbidity in patients with cystic fibrosis (CF). The importance of gender and age in outcome in CF makes selection of an appropriate comparison group central to the interpretation of any differences in mortality and morbidity in patients with CFLD.

  6. European Cystic Fibrosis Society Standards of Care

    DEFF Research Database (Denmark)

    Stern, Martin; Bertrand, Dominique Pougheon; Bignamini, Elisabetta;

    2014-01-01

    Since the earliest days of cystic fibrosis (CF) treatment, patient data have been recorded and reviewed in order to identify the factors that lead to more favourable outcomes. Large data repositories, such as the US Cystic Fibrosis Registry, which was established in the 1960s, enabled successful...

  7. HOME CARE IN CYSTIC-FIBROSIS PATIENTS

    NARCIS (Netherlands)

    VANAALDEREN, WMC; MANNES, GPM; BOSMA, ES; ROORDA, RJ; HEYMANS, HSA

    1995-01-01

    Intravenous antibiotics and enteral tube feeding at home for the treatment of pulmonary exacerbations and underweight condition in cystic fibrosis (CF) patients have become tools that are used in many cystic fibrosis centres, The experience with home care programmes from different countries is quite

  8. Self-management education for cystic fibrosis.

    LENUS (Irish Health Repository)

    Savage, Eileen

    2011-01-01

    Self-management education may help patients with cystic fibrosis and their families to choose, monitor and adjust treatment requirements for their illness, and also to manage the effects of illness on their lives. Although self-management education interventions have been developed for cystic fibrosis, no previous systematic review of the evidence of effectiveness of these interventions has been conducted.

  9. Laparoscopic cholecystectomy in adult cystic fibrosis.

    LENUS (Irish Health Repository)

    McGrath, D S

    2012-02-03

    Two female patients with Cystic Fibrosis, attending the Adult Regional Cystic Fibrosis centre at the Cork University Hospital, were investigated for upper abdominal pain and found to have gallstones at ultrasonography. Laparoscopic cholecystectomy was performed successfully and, without complication, in both patients.

  10. Cystic Lung Diseases: Algorithmic Approach.

    Science.gov (United States)

    Raoof, Suhail; Bondalapati, Praveen; Vydyula, Ravikanth; Ryu, Jay H; Gupta, Nishant; Raoof, Sabiha; Galvin, Jeff; Rosen, Mark J; Lynch, David; Travis, William; Mehta, Sanjeev; Lazzaro, Richard; Naidich, David

    2016-10-01

    Cysts are commonly seen on CT scans of the lungs, and diagnosis can be challenging. Clinical and radiographic features combined with a multidisciplinary approach may help differentiate among various disease entities, allowing correct diagnosis. It is important to distinguish cysts from cavities because they each have distinct etiologies and associated clinical disorders. Conditions such as emphysema, and cystic bronchiectasis may also mimic cystic disease. A simplified classification of cysts is proposed. Cysts can occur in greater profusion in the subpleural areas, when they typically represent paraseptal emphysema, bullae, or honeycombing. Cysts that are present in the lung parenchyma but away from subpleural areas may be present without any other abnormalities on high-resolution CT scans. These are further categorized into solitary or multifocal/diffuse cysts. Solitary cysts may be incidentally discovered and may be an age related phenomenon or may be a remnant of prior trauma or infection. Multifocal/diffuse cysts can occur with lymphoid interstitial pneumonia, Birt-Hogg-Dubé syndrome, tracheobronchial papillomatosis, or primary and metastatic cancers. Multifocal/diffuse cysts may be associated with nodules (lymphoid interstitial pneumonia, light-chain deposition disease, amyloidosis, and Langerhans cell histiocytosis) or with ground-glass opacities (Pneumocystis jirovecii pneumonia and desquamative interstitial pneumonia). Using the results of the high-resolution CT scans as a starting point, and incorporating the patient's clinical history, physical examination, and laboratory findings, is likely to narrow the differential diagnosis of cystic lesions considerably. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  11. Muscular cystic hydatidosis: case report

    Directory of Open Access Journals (Sweden)

    Naspetti Riccardo

    2007-03-01

    Full Text Available Abstract Background Hydatidosis is a zoonosis caused by Echinococcus granulosus, and ingesting eggs released through the faeces from infected dogs infects humans. The location of the hydatid cysts is mostly hepatic and/or pulmonary, whereas musculoskeletal hydatidosis is very rare. Case presentation We report an unusual case of primary muscular hydatidosis in proximity of the big adductor in a young Sicilian man. The patient, 34 years old, was admitted to the Department of Infectious and Tropical Diseases for ultrasonographic detection, with successive confirmation by magnetic resonance imaging, of an ovular mass (13 × 8 cm in the big adductor of the left thigh, cyst-like, and containing several small cystic formations. Serological tests for hydatidosis gave negative results. A second drawing of blood was done 10 days after the first one and showed an increase in the antibody titer for hydatidosis. The patient was submitted to surgical excision of the lesion with perioperatory prophylaxis with albendazole. The histopathological examination of the bioptic material was not diriment in the diagnosis, therefore further tests were performed: additional serological tests for hydatidosis for the evaluation of IgE and IgG serotype (Western Blot and REAST, and molecular analysis of the excised material. These more specific serological tests gave positive results for hydatidosis, and the sequencing of the polymerase chain reaction products from the cyst evidenced E. granulosus DNA, genotype G1. Any post-surgery complications was observed during 6 following months. Conclusion Cystic hydatidosis should always be considered in the differential diagnosis of any cystic mass, regardless of its location, also in epidemiological contests less suggestive of the disease. The diagnosis should be achieved by taking into consideration the clinical aspects, the epidemiology of the disease, the imaging and immunological tests but, as demonstrated in this case, without

  12. Endocrine Disorders in Cystic Fibrosis.

    Science.gov (United States)

    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. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Five cases of cystic osteoechinococcosis

    Institute of Scientific and Technical Information of China (English)

    JIANG Ci-peng

    2005-01-01

    @@ Osseous cystic echinococcosis (CE) is a rare disease caused by the larval stage of Echinococcus granulosus (E. granulosus) and CE is different from alveolar echinococcosis (AE) caused by the larva of E. multilocularis. During a period of 20 years (1983-2003), a total of 364 cases of echinococcosis, including 263 CE and 101 AE cases were diagnosed at Hydatidos Research Laboratory (HRL), Basic Medical College, Lanzhou University, China. Of them, 5 cases of osseous CE (1.37%) were encountered and now reported as follows.

  14. Cystic Fibrosis: Brazilian ENT Experience

    Directory of Open Access Journals (Sweden)

    Tania Sih

    2012-01-01

    Full Text Available 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.

  15. Cystic lymphangioma of the pancreas

    Institute of Scientific and Technical Information of China (English)

    Radoje B Colovic; Nikica M Grubor; Marjan T Micev; Henry Dushan E Atkinson; Vitomir I Rankovic; Mihajlo M Jagodic

    2008-01-01

    Lymphangioma of the pancreas is an extremely rare benign turnout of lymphatic origin, with fewer than 60 published cases. Histologically, it is polycystic, with the cysts separated by thin septa and lined with endothelial cells. Though congenital, it can affect all age groups, and occurs more frequently in females. Patients usually present with epigastric pain and an associated palpable mass. Complete excision is curative, even though, depending on the tumour location, surgery may be simple or involve extensive pancreatic resection and anastomoses. The authors present a 49-year-old woman in whom a polycystic septated mass, 35 mm × 35 mm in size, was discovered by ultrasonography (US) in the body of the pancreas during investigations for epigastric pain and nausea. At surgery, a well circumscribed polycystic tumor was completely excised, with preservation of the pancreatic duct. The postoperative recovery was uneventful. Histology confirmed a microcystic lymphangioma of the pancreas. Immunohistochemistry showed cystic endothelial cells reactivity to factor Ⅷ -RA (++), CD31 (+++) and CD34 (-). Postoperatively, abdominal pain disappeared and the patient remained symptomfree for 12 mo until now. Although extremely rare, lymphangioma of the pancreas should be taken into consideration as a differential diagnosis of a pancreatic cystic lesion, especially in women.

  16. [Cystic fibrosis and other channelopathies].

    Science.gov (United States)

    Edelman, A; Saussereau, E

    2012-05-01

    Mutations in cystic fibrosis transmembrane conductance regulator gene, CFTR, are responsible for cystic fibrosis, CF, a channelopathie. CFTR protein is a multifunctional protein with a main function of Cl(-) channel. CFTR is expressed in epithelia (upper airways, intestine, pancreas etc.). In the first part of this revue, we describe the main properties of CFTR underlying that it is not only a Cl(-) channel protein but also a multifunctional protein. We present a hypothesis which postulates that CFTR is a hub protein interacting with more than 140 proteins, and through these interactions regulates a number of functions which are abnormal in CF (ion transport, inflammation etc.). In the second part of the revue we briefly present a selection of other epithelial channelopathies due to mutations in genes of other Cl(-) or cation channels. Of note, these channels either interacts with CFTR or are considered as alternative channels in CF, and, as such, are targets for pharmacotherapies. We want to leave the reader with a message that to investigate channalopathies, to dissect the molecular mechanisms underlying channels'activity, allow not only to better understand basic mechanisms of channel regulation but in fine, to propose new targets for pharmacotherapies. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  17. SONOGRAPHIC PATTERNS AND DIFFERENTIAL DIAGNOSIS OF CYSTIC RENAL CARCINOMAS

    Institute of Scientific and Technical Information of China (English)

    蔡胜; 李建初; 姜玉新; 戴晴; 谭莉; 张缙熙

    2002-01-01

    Objective. To study the sonographic features and patterns of cystic renal carcinomas. Methods. Thirteen cases of cystic renal carcinoma confirmed by operation and pathology were examined by ultrasonography, and the cystic walls, septa and solid mural nodules were studied. Results. Solid mural nodules of some cases and irregular thickening of the cystic walls and septa were characteristic findings for the ultrasonic diagnosis of cystic renal carcinomas. According to their pathologic mechanisms and sonographic features, cystic renal carcinomas were classified into 3 patterns: unilocular cystic mass, multiloculated cystic mass and cystic-solid mass. Conclusions. Typical cystic renal carcinomas can be well diagnosed, while atypical cases may be misdiagnosed as benign renal cysts by ultrasonography. Color Doppler ultrasonography and needle aspiration guided by ultrasonography are helpful in the diagnosis of these atypical cases.

  18. SONOGRAPHIC PATTERNS AND DIFFERENTIAL DIAGNOSIS OF CYSTIC RENAL CARCINOMAS

    Institute of Scientific and Technical Information of China (English)

    蔡胜; 李建初; 等

    2002-01-01

    Objective:To study the sonographic features and patterns of cystic renal carcinomas.Methods:Thirteen cases of cystic renal carcinoma confirmed by operation and pathology were examined by ultrasonography,and the cystic walls,septa and solid mural nodules were studied.Results:Solid mural nodules of some cases and irregular thickening of the cystic walls and septa were characteristic findings for the ultrasonic diagnosis of cystic renal carcinomas.According to their pathologic mechanisms and sonographic features,cystic renal carcinomas were classified into 3 patterns:unilocular cystic mass,multiloculated cystic mass and cystic-solid mass.Conclusions:Typical cystic renal carcinomas can be well diagnosed,while atypical cases may be misdiagnosed as benign renal cysts by ultrasonography.Color Doppler ultrasonography and needle aspiration guided by ultrasonography are helpful in the diagnosis of these atypical cases.

  19. Vitamin D deficiency as a risk factor for cystic fibrosis-related diabetes in the Scandinavian Cystic Fibrosis Nutritional Study

    DEFF Research Database (Denmark)

    Pincikova, T; Nilsson, Kristine Kahr; Moen, I E;

    2011-01-01

    Many cystic fibrosis patients are vitamin D-insufficient. Cystic fibrosis-related diabetes is a major complication of cystic fibrosis. The literature suggests that vitamin D might possess certain glucose-lowering properties. We aimed to assess the relationship between vitamin D and cystic fibrosis...

  20. Mediastinal Cystic Lymphangioma in a Patient with Situs Inversus Totalis

    Directory of Open Access Journals (Sweden)

    Teruya Komatsu

    2014-01-01

    Full Text Available We present a case of cystic lymphangioma of the mediastinum complicated with situs inversus totalis. The 70-year-old man underwent thoracoscopic resection of a mediastinal cystic tumor, which was diagnosed as cystic lymphangioma. Cystic lymphangiomas are congenital cystic abnormalities of the lymphatic system. The head and neck area is often involved while the mediastinum is rarely affected. The rarity of this case is further attributed to the coexistence of situs inversus totalis.

  1. Rapidly Evoluting Congenital Cystic Neuroblastoma in a Neonate

    Energy Technology Data Exchange (ETDEWEB)

    Yun, Tae Jun; Kim, Myung Jun; Han, Seok Joo; Lee, Mi Jung [Severance Children' s Hospital, Yonsei University, College of Medicine, Seoul(Korea, Republic of)

    2012-08-15

    Perinatal detection of neonatal suprarenal masses has increased. Here, we report an unusual case of an adrenal cystic neuroblastoma that presented as a purely cystic lesion upon initial postnatal ultrasonography (US) and showed rapid evolution to a mixed cystic and solid mass during follow-up US and MRI. We suggest a short-term (two weeks) follow-up US for neonatal adrenal cystic lesions, even if they appear as purely cystic.

  2. Artery to Cystic Duct: A Consistent Branch of Cystic Artery Seen in Laparoscopic Cholecystectomy

    Directory of Open Access Journals (Sweden)

    Arshad Rashid

    2015-01-01

    Full Text Available Uncontrolled arterial bleeding during laparoscopic cholecystectomy is a serious problem and may increase the risk of bile duct damage. Therefore, accurate identification of the anatomy of the cystic artery is very important. Cystic artery is notoriously known to have a highly variable branching pattern. We reviewed the anatomy of the cystic artery and its branch to cystic duct as seen through the video laparoscope. A single artery to cystic duct with the classical “H-configuration” was demonstrated in 161 (91.47% patients. This branch may cause troublesome bleeding during laparoscopic dissection in the hepatobiliary triangle. Careful identification of artery to cystic duct is helpful in the proper dissection of Calot’s triangle as it reduces the chances of hemorrhage and thus may also be helpful in prevention of extrahepatic biliary radical injuries.

  3. Giant cystic abdominal masses in children

    Energy Technology Data Exchange (ETDEWEB)

    Wootton-Gorges, Sandra L.; Thomas, Kristen B.; Harned, Roger K.; Wu, Sarah R.; Stein-Wexler, Rebecca; Strain, John D. [University of California, Davis Health Center, Sacramento, CA (United States); Davis Children' s Hospital, Department of Radiology, Sacramento, CA (United States)

    2005-12-01

    In this pictorial essay the common and uncommon causes of large cystic and cyst-like abdominal masses in children are reviewed. We discuss and illustrate the following: mesenchymal hamartoma, choledochal cyst, hydrops of the gallbladder, congenital splenic cyst, pancreatic pseudocyst, pancreatic cystadenoma, hydronephrosis, multicystic dysplastic kidney, multilocular cystic nephroma, adrenal hemorrhage, mesenteric and omental cysts, gastrointestinal duplication cyst, meconium pseudocyst, ovarian cysts and cystic neoplasms, hematocolpos, urachal cysts, appendiceal abscess, abdominal and sacrococcygeal teratoma, and CSF pseudocyst. We also describe imaging features and clues to the diagnosis. (orig.)

  4. Cystic Pheochromocytoma Presenting as Adrenal Cyst

    Science.gov (United States)

    Abdulsalam, Mohammed Shafi; Satish, Priyanka; Janakiraman, Raghunath Keddy; Singh, Shivshankar

    2016-01-01

    Pheochromocytomas are usually solid tumours. But it can present as cystic lesions in the adrenal gland. Cystic lesions in adrenal gland with hypertension needs attention to rule out pheochromocytoma. If ignored, it may lead to hypertensive emergency, multisystem crisis and death. Early diagnosis with biochemistry, Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) of abdomen, proper functional imaging like Meta Iodo Benzyl Guanidine (MIBG) scan is essential. Proper preoperative preparation is important to prevent hypertensive crisis during and after surgery. We are reporting a case of cystic pheochromocytoma in a young male. PMID:28050427

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

    Science.gov (United States)

    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.

  6. Cystic fibrosis-related diabetes

    DEFF Research Database (Denmark)

    Andersen, Henrik U; Lanng, Susanne; Pressler, Tania

    2006-01-01

    OBJECTIVE: Cystic fibrosis (CF)-related diabetes has been regarded as a mild form of diabetes with a low risk of severe diabetes complications. The prevalence of CF-related diabetes increases with age, resulting in a 50% prevalence of diabetes at age 30 years. We sought to investigate whether...... microvascular complications in CF-related diabetes appear with a relevant frequency. RESEARCH DESIGN AND METHODS: Thirty-eight patients aged 30 (range 18-55) years with CF-related diabetes for 20 (0-31) years were screened for diabetes complications. Because of chronic pulmonary infections, the majority...... of diabetic retinopathy was found in patients with insulin-treated CF-related diabetes, stressing the need for a regular screening program as in type 1 diabetes. Severely impaired kidney function was common in lung transplant patients, probably secondary to cyclosporine treatment....

  7. Cystic mesothelioma of the peritoneum.

    Science.gov (United States)

    Datta, R V; Paty, P B

    1997-10-01

    A 48-year-old man presented with a 3-month history of weight loss and progressive right lower quadrant abdominal pain. His medical history was notable for appendectomy at age 17. Ultrasonography and computed tomography of the abdomen revealed a 12 cm multicystic mass in the right paracolic space. At laparotomy a large serous cyst was found arising from the lateral wall of the cecum, and four additional small cysts were found on the small bowel mesentery, greater omentum, liver capsule, and right hemi-diaphragm. Complete removal of the tumor was accomplished by right colectomy with extraperitoneal dissection of the large cyst and simple excision of the four smaller cysts. Final pathology with immunohistochemical staining confirmed cystic mesothelioma of the peritoneum. In this report we discuss the diagnostic workup and treatment of this rare disease.

  8. Gastrointestinal manifestations in cystic fibrosis.

    Science.gov (United States)

    Eggermont, E

    1996-08-01

    CFTR, or cystic fibrosis transmembrane conductance regulator, the gene product that is defective in cystic fibrosis, is present in the apical membrane of the epithelial cells from the stomach to the colon. In the foregut, the clinical manifestations are not directly related to the primary defect of the CFTR chloride channel. The most troublesome complaints and symptoms originate from the oesophagus as peptic oesophagitis or oesophageal varices. In the small intestinal wall, the clinical expression of CF depends largely on the decreased secretion of fluid and chloride ions, the increased permeability of the paracellular space between adjacent enterocytes and the sticky mucous cover over the enterocytes. As a rule, the brush border enzyme activities are normal and there is some enhanced active transport as shown for glucose and alanine. The results of continuous enteral feeding of CF patients clearly show that the small intestinal mucosa, in the daily situation, is not functioning at maximal capacity. Although CFTR expression in the colon is lower, the large intestine may be the site of several serious complications such as rectal prolapse, meconium ileus equivalent, intussusception, volvulus and silent appendicitis. In recent years colonic strictures, after the use of high-dose pancreatic enzymes, are being increasingly reported; the condition has recently been called CF fibrosing colonopathy. The CF gastrointestinal content itself differs mainly from the normal condition by the lower acidity in the foregut and the accretion of mucins and proteins, eventually resulting in intestinal obstruction, in the ileum and colon. Better understanding of the CF gastrointestinal phenotype may contribute to improvement of the overall wellbeing of these patients.

  9. Respiratory bacterial infections in cystic fibrosis

    DEFF Research Database (Denmark)

    Ciofu, Oana; Hansen, Christine R; Høiby, Niels

    2013-01-01

    Bacterial respiratory infections are the main cause of morbidity and mortality in patients with cystic fibrosis (CF). Pseudomonas aeruginosa remains the main pathogen in adults, but other Gram-negative bacteria such as Achromobacter xylosoxidans and Stenotrophomonas maltophilia as well...

  10. Pathohistological changes in fetuses with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Đolai Matilda

    2012-01-01

    Full Text Available Introduction. Cystic fibrosis or mucoviscidosis is a genetically caused disease. The intensity of disease and histopathological changes grow throughout the life. According to the literature, pathological changes characteristic of cystic fibrosis become noticeable around the sixth month of life. Case Report. After amniocentesis of a 5-lunar month-old fetus had been done, which confirmed cystic fibrosis, the Ethics Commission approved the preterm labor. The autopsy and histopathological analysis demonstrated the existence of typical histopathological changes in the pancreas and intestines. Discussion. In the late fetal period or during the period around the delivery, cystic fibrosis is usually manifested as meconial cap with or without obstruction of the intestinal lumen. Morphological changes in the exocrine glands usually develop only after birth. In this case, the existence of meconial obstruction, as well as the typical acidofil content in the secretory ducts and acini of the pancreas was confirmed, which is unusual for the fetal age of five months.

  11. Epidural Cystic Spinal Meningioma: A Case Report.

    Science.gov (United States)

    Zhang, Ji; Chen, Zheng-he; Wang, Zi-feng; Sun, Peng; Jin, Jie-tian; Zhang, Xiang-heng; Zhao, Yi-ying; Wang, Jian; Mou, Yong-gao; Chen, Zhong-ping

    2016-03-01

    Cystic spinal meningioma (CSM) is an uncommon meningioma variant. Extradural CSMs are particularly rare and difficult to distinguish from other intraaxial tumors. This study presents a case of a 36-year-old woman with intraspinal extradual CSM at the thoracolumbar spine. She experienced persistent weakness, progressive numbness, and sensory disturbance in the right lower limb. Magnetic resonance imaging (MRI) of the patient revealed an irregular cystic mass at the thoracic 11 to lumbar 3 levels dorsally. This case was misdiagnosed as other neoplasms prior to surgery because of the atypical radiographic features and location of the tumor. Extradural CSMs should be considered in the differential diagnosis of intraspinal extradural cystic neoplasms. Complete removal of cystic wall provides an optimal outcome, rendering the lesion curable.

  12. Preterm twin gestation and cystic periventricular leucomalacia

    NARCIS (Netherlands)

    Resch, B; Jammernegg, A; Vollaard, E; Maurer, U; Mueller, WD; Pertl, B

    2004-01-01

    Objective: To identify risk factors for the development of cystic periventricular leucomalacia (PVL) in twin gestation. Design: Retrospective case-control study. Setting: Tertiary care university hospital, Department of Paediatrics, Division of Neonatology, Graz, Austria. Patients: Preterm twin gest

  13. Nutrition in Cystic Fibrosis: Macro- and Micronutrients

    NARCIS (Netherlands)

    Oudshoorn, Johanna Hermiena

    2006-01-01

    Cystic fibrosis (CF) is the most common life-threatening autosomal recessive inherited disease in Caucasians, and is characterized by progressive lung disease, pancreatic insufficiency, malnutrition, hepatobiliary disease and elevated sweat electrolyte levels. The increased survival of CF patients d

  14. Radiological description of cystic pancreatic tumors.

    Science.gov (United States)

    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. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Subglottic adenoid cystic carcinoma mistaken for asthma

    Institute of Scientific and Technical Information of China (English)

    Hua-lin WANG; Lin XU; Fu-jun LI

    2009-01-01

    of the tumor. The diagnosis of subglottic adenoid cystic carcinoma should be considered in patients who are characterized by dyspnea, cough, and stridor, but do not respond to regular anti-asthmatic therapy.

  16. Cystic cervical intramedullary schwannoma with syringomyelia

    Directory of Open Access Journals (Sweden)

    Shenoy S

    2005-01-01

    Full Text Available We report a case of cervical intramedullary cystic schwannoma associated with segmental syrinx in a young adult without evidence of neurofibromatosis. The relevant literature is reviewed.

  17. Monitoring Cystic Fibrosis Lung Disease : Chest imaging and patient-related outcome measures

    NARCIS (Netherlands)

    L.A. Tepper (Leonie)

    2014-01-01

    markdownabstract__Abstract__ Cystic Fibrosis (CF) is a severe, life-shortening genetic disease with a wide spectrum of clinical manifestations, affecting 70,000 patients in the EU and USA. The most prevalent clinical manifestation is structural lung disease. Structural lung disease is the main caus

  18. Cystic adenomatoid tumor of the uterus

    Directory of Open Access Journals (Sweden)

    Varsha Manucha

    2015-01-01

    Full Text Available We present a case of a cystic adenomatoid tumor in a 40-year-old woman. The tumor was an intramural multicystic mass, histologically similar to a multicystic mesothelioma. Cystic adenomatoid tumors of the uterus are extremely rare. They present with a wide differential diagnosis in radiology. The tumors are known to be benign and awareness of this rare entity is the key to its diagnosis for a pathologist.

  19. Adenoid cystic carcinoma of the lacrimal gland

    DEFF Research Database (Denmark)

    von Holstein, Sarah L; Fehr, André; Persson, Marta;

    2013-01-01

    To investigate genetic alterations in lacrimal gland adenoid cystic carcinomas (ACCs) with emphasis on the MYB-NFIB fusion oncogene and its downstream targets, MYB rearrangements, and copy number alterations in relation to clinical data and survival.......To investigate genetic alterations in lacrimal gland adenoid cystic carcinomas (ACCs) with emphasis on the MYB-NFIB fusion oncogene and its downstream targets, MYB rearrangements, and copy number alterations in relation to clinical data and survival....

  20. Challenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report

    Directory of Open Access Journals (Sweden)

    Nazir Sarfraz

    2008-08-01

    . Post-natal diagnosis may also be misleading as many mediastinal cystic masses have similar appearances on imaging. Therefore, as well as cystic architecture, special consideration needs to be given to the anatomical location and effect on local structures.

  1. Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

    NARCIS (Netherlands)

    Dequeker, E; Cuppens, H; Dodge, J; Estivill, [No Value; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ

    2000-01-01

    These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external q

  2. Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

    NARCIS (Netherlands)

    Dequeker, E; Cuppens, H; Dodge, J; Estivill, [No Value; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ

    2000-01-01

    These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external q

  3. [Therapeutic advances in cystic fibrosis in 2014].

    Science.gov (United States)

    Durupt, S; Mazur, S; Reix, P

    2016-02-01

    Twenty-five years after the cystic fibrosis (CF) gene identification, this discovery actually begins to benefit to patients. Increasing our knowledge on CFTR biology, as well as technical progress made in order to screen for new drugs have made therapeutic strategies move an important step forward. It is likely that in the forthcoming years, the panel of molecules available for CF patients will be larger, with new activators and potentiators. The disease by itself may consequently change in its natural history. CF is an example of the so-called personalized medicine, aiming to fit treatment according to patient's genetic background. Ongoing clinical trials may enlarge the actually limited eligible number of CF patients for new drugs such as ivacaftor. Beyond this exciting and promising new therapeutic approach, one may not push symptomatic treatments on the side. Improvements have been made for inhaled antibiotics administration, aiming to simplify patient's life; clinical trials using new molecules able to liquefy mucus or with anti-inflammatory properties are actually underway. One important next step in the care for CF will be to design and conduct early intervention trials in CF infants. Newborn screening program have been widely implanted around the word, and cohorts studies have shown that both functional and structural abnormalities occurred very early, making the therapeutic window of opportunity tight. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  4. Surgical outcome in cystic vestibular schwannomas

    Science.gov (United States)

    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

  5. Human amnion epithelial cells induced to express functional cystic fibrosis transmembrane conductance regulator.

    Directory of Open Access Journals (Sweden)

    Sean V Murphy

    Full Text Available Cystic fibrosis, an autosomal recessive disorder caused by a mutation in a gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR, remains a leading cause of childhood respiratory morbidity and mortality. The respiratory consequences of cystic fibrosis include the generation of thick, tenacious mucus that impairs lung clearance, predisposing the individual to repeated and persistent infections, progressive lung damage and shortened lifespan. Currently there is no cure for cystic fibrosis. With this in mind, we investigated the ability of human amnion epithelial cells (hAECs to express functional CFTR. We found that hAECs formed 3-dimensional structures and expressed the CFTR gene and protein after culture in Small Airway Growth Medium (SAGM. We also observed a polarized CFTR distribution on the membrane of hAECs cultured in SAGM, similar to that observed in polarized airway cells in vivo. Further, hAECs induced to express CFTR possessed functional iodide/chloride (I(-/Cl(- ion channels that were inhibited by the CFTR-inhibitor CFTR-172, indicating the presence of functional CFTR ion channels. These data suggest that hAECs may be a promising source for the development of a cellular therapy for cystic fibrosis.

  6. Intracystic Therapies for Cystic Craniopharyngioma

    Directory of Open Access Journals (Sweden)

    Ute Katharina Bartels

    2012-03-01

    Full Text Available AbstractIntroduction: 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 3rd quarter 2011. All references were examined for relevancy. Results: Of 142 unique references x 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 radio-isotopes, bleomycin and interferon are critically reviewed and an outline for potential future endeavours provided. Conclusions: Interferon 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.

  7. Cystic fibrosis: a clinical view.

    Science.gov (United States)

    Castellani, Carlo; Assael, Baroukh M

    2017-01-01

    Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas, male genital system, intestine, liver, bone, and kidney are involved. The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage. Previously considered lethal in infancy and childhood, CF has now attained median survivals of 50 years of age, mainly thanks to the early diagnosis through neonatal screening, recognition of mild forms, and an aggressive therapeutic attitude. Classical treatment includes pancreatic enzyme replacement, respiratory physiotherapy, mucolitics, and aggressive antibiotic therapy. A significant proportion of patients with severe symptoms still requires lung or, less frequently, liver transplantation. The great number of mutations and their diverse effects on the CFTR protein account only partially for CF clinical variability, and modifier genes have a role in modulating the clinical expression of the disease. Despite the increasing understanding of CFTR functioning, several aspects of CF need still to be clarified, e.g., the worse outcome in females, the risk of malignancies, the pathophysiology, and best treatment of comorbidities, such as CF-related diabetes or CF-related bone disorder. Research is focusing on new drugs restoring CFTR function, some already available and with good clinical impact, others showing promising preliminary results that need to be confirmed in phase III clinical trials.

  8. Male fertility in cystic fibrosis.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2011-04-05

    Infertility rates among males with cystic fibrosis (CF) approximate 97%. No information is currently available within Ireland determining an understanding of fertility issues and the best methods of information provision to this specialized group. This study aimed to determine understanding and preferred approaches to information provision on fertility issues to Irish CF males. A Descriptive Study utilizing prospective coded questionnaires was mailed to a male CF cohort (n=50). Sections included demographics, fertility knowledge & investigation. Response rate was 16\\/50 (32%). All were aware that CF affected their fertility. More than two-thirds (n=11) were able to provide explanations whilst only one-third (n=5) provided the correct explanation. Significant numbers stated thoughts of marriage and a future family. Half have discussed fertility with a healthcare professional (HCP). Mean age of discussion was 21.9 years. One third preferred an earlier discussion. The commonest first source for information was written material which was also the preferred source. Three-quarters requested further information preferring again, written material. Significant gaps in sex education of Irish CF males exist. Discussion should be initiated by HCPs and centre-directed written material devised to address deficiencies.

  9. A rare case of cystic subepithelial tumor in the stomach: Gastric adenomyoma

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Ho Seok; Jang, Yun Jin; Heo, Jun [Kyungpook National University Hospital, Daegu (Korea, Republic of)

    2015-12-15

    Gastric adenomyoma is a rare benign subepithelial tumor, characteristically composed of mucosal structures and a prominent smooth muscle stroma. Because of rarity and the nonspecific computed tomography (CT) features, it is difficult to diagnose gastric adenomyoma before operation. In our case, gastric adenomyoma showed a well-circumscribed cystic subepithelial mass with uneven wall thickness on a CT scan, similar to the findings of former reports. The radiologic differential diagnosis can be narrowed down to several diseases, including duplication cysts, gastritis cystica profunda, brunner's gland hyperplasia and solid tumors with cystic degeneration. Also, adenomyoma could be included in the differential diagnosis of gastric cystic subepithelial masses, especially in the distal part of the stomach.

  10. OK432 (picibanil) efficacy in an adult with cystic cervical lymphangioma. A case report.

    Science.gov (United States)

    Alonso, Juan; Barbier, Luis; Alvarez, Julio; Romo, Laura; Martín, Jesús C; Arteagoitia, Iciar; Santamaría, Joseba

    2005-01-01

    Cervical cystic lymphangioma (CCL) is a rare and benign tumour involving congenital and cystic abnormalities derived from lymphatic vessels. The most accepted treatment continues to be surgical excision. However, when this infiltrates vital neurovascular neck structures, complete excision is difficult and if only partial, the recurrence rate is very high. The most frequently used alternative treatment is to inject sclerosants into the lesion. The use of these techniques has reported good results in children; however, there are few references thereof with regard to adults. We are reporting on a cervical cystic lymphangioma in a male aged 22, treated with an intra-lesion injection of 20 cc with 0.01 mg/cc dilution of OK-432 (picibanil) in physiological serum. Sole complications were fever and local reaction where the solution was injected. One month after treatment the lymphangioma had totally remitted and sixteen months later continues in remittance.

  11. Mature cystic teratoma of the pancreas in a child

    Energy Technology Data Exchange (ETDEWEB)

    Yu, C.W.; Liu, K.L.; Li, Y.W. [Dept. of Medical Imaging, National Taiwan Univ. Hospital, Taipei (Taiwan); Lin, W.C. [Dept. of Pathology, National Taiwan Univ. Hospital, Taipei (Taiwan)

    2003-04-01

    A cystic pancreatic tumour is rare in a child and a mature cystic teratoma of the pancreas is even rarer. This is the first demonstration of the CT appearance of such a tumour in a child. We present a 2-year-old boy who presented with a palpable abdominal mass. Abdominal CT revealed a huge cystic mass in the upper abdomen. Pathology disclosed a mature cystic teratoma originating from the pancreas. (orig.)

  12. Sternum Length and Rib Cage Dimensions Compared with Bodily Proportions in Adults with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Louis-Philippe Laurin

    2012-01-01

    Full Text Available BACKGROUND: A greater structural expansion of the rib cage in females compared with males has been described in cystic fibrosis (CF patients; however, conflicting data exist as to whether an elongation of the bony ribs and sternum contributes to this expansion.

  13. Exploring Cystic Fibrosis Using Bioinformatics Tools: A Module Designed for the Freshman Biology Course

    Science.gov (United States)

    Zhang, Xiaorong

    2011-01-01

    We incorporated a bioinformatics component into the freshman biology course that allows students to explore cystic fibrosis (CF), a common genetic disorder, using bioinformatics tools and skills. Students learn about CF through searching genetic databases, analyzing genetic sequences, and observing the three-dimensional structures of proteins…

  14. Exploring Cystic Fibrosis Using Bioinformatics Tools: A Module Designed for the Freshman Biology Course

    Science.gov (United States)

    Zhang, Xiaorong

    2011-01-01

    We incorporated a bioinformatics component into the freshman biology course that allows students to explore cystic fibrosis (CF), a common genetic disorder, using bioinformatics tools and skills. Students learn about CF through searching genetic databases, analyzing genetic sequences, and observing the three-dimensional structures of proteins…

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

    Science.gov (United States)

    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;…

  16. 78 FR 26681 - Medical Criteria for Evaluating Cystic Fibrosis

    Science.gov (United States)

    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...

  17. A residual cystic lesion in acute disseminated encephalomyelitis

    Energy Technology Data Exchange (ETDEWEB)

    Go, T. [Otsu Red Cross Hospital, Nagara (Japan). Dept. of Paediatrics; Imai, T. [Kyoto Univ. School of Medicine, Kyoto (Japan). Dept. of Paediatrics

    2000-09-01

    We report a case of acute disseminated encephalomyelitis (ADEM) with a residual cystic lesion on MRI. This seemed to be induced by Japanese encephalitis vaccination. Despite complete clinical improvement with high-dose steroid therapy, the cystic lesion has persisted for 3 years on MRI. There have been no previous reports of residual cystic lesions in ADEM. (orig.)

  18. Study of cystic artery by arteriography. Importance of previous cholecystography

    Energy Technology Data Exchange (ETDEWEB)

    Machado, G.O.

    An oral cholecystography previously to celiac and mesenteric arteriography is performed, in order to identify the cystic artery, in 42 patients with pancreatitis, according Seldinger technique. The cystic artery was identified in all the cases, the pattern being the outlet of the cystic artery from the right hepatic artery. Infusion pump and seriography were not used.

  19. Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report

    Directory of Open Access Journals (Sweden)

    N. S. Kamakeri

    2016-10-01

    Full Text Available Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.

  20. Premalignant cystic neoplasms of the pancreas.

    Science.gov (United States)

    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.

  1. Cystic echinococcosis in Southern Israel.

    Science.gov (United States)

    Ben-Shimol, Shalom; Sagi, Orli; Houri, Ohad; Bazarsky, Elina; Berkowitz, Anat; Bulkowstein, Shlomi; Barrett, Chiya; Greenberg, David

    2016-01-01

    The aim of this retrospective, population-based study was to characterize demographically and clinically cystic-echinococcosis (CE) in southern Israel, between 2005 and 2012. Newly-diagnosed (nd-CE) and past-diagnosed (pd-CE, diagnosed before the study) cases were defined. Two populations live in southern-Israel, receiving medical treatment at a single hospital: the Jewish and the Bedouin populations (resembling resource-rich and resource-poor populations, respectively). 126 CE cases were identified; 55 nd-CE and 71 pd-CE. Mean annual nd-CE incidence per 100,000 in the Bedouin and Jewish populations were 2.7 ± 1.2 and 0.4 ± 0.3, respectively (Pborn outside Israel. Liver and lung involvement were recorded in 85.7% and 15.1% of overall-CE, respectively. Abdominal pain, cough, fever, eosinophilia and asymptomatic disease were documented in 63.6%, 32.7%, 27.3%, 41.5% and 12.7% of nd-CE, respectively. Serology sensitivity for first test and any positive test were 67.3% and 83.3%, respectively. Computed tomography, ultrasonography and X-ray diagnosis were documented in 79.2%, 58.4% and 17.0% of overall-CE, respectively, with ultrasonography mainly used in liver-CE and X-ray in lung-CE. Treatment included surgery and albendazole in 50.0% and 55.3% of CE, respectively. We conclude that CE is endemic in southern-Israel among the Bedouin population, while disease is probably mainly imported in the Jewish population. Liver involvement and eosinophilia rates were high compared with those of other endemic regions, possibly due to differences in the timing of diagnosis. These findings may help developing treatment and prevention strategies.

  2. Genetics of Cystic Fibrosis: Clinical Implications.

    Science.gov (United States)

    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.

  3. Diagnosis of Adult Patients with Cystic Fibrosis.

    Science.gov (United States)

    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.

  4. The cystic fibrosis of exocrine pancreas

    DEFF Research Database (Denmark)

    Wilschanski, Michael; Novak, Ivana

    2013-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) protein is highly expressed in the pancreatic duct epithelia and permits anions and water to enter the ductal lumen. This results in an increased volume of alkaline fluid allowing the highly concentrated proteins secreted by the acinar...... cells to remain in a soluble state. This work will expound on the pathophysiology and pathology caused by the malfunctioning CFTR protein with special reference to ion transport and acid-base abnormalities both in humans and animal models. We will also discuss the relationship between cystic fibrosis...

  5. Sonographic-pathologic correlation of complex cystic breast lesions

    Directory of Open Access Journals (Sweden)

    Saravech Pongrattanaman

    2013-02-01

    Full Text Available Objective: To understand the pathologic basis for sonographic features of complex cystic lesions. Methods: From 2 646 female patients underwent breast sonography at King Chulalongkorn Memorial Hospital from January 2005 through December 2010, 103 cystic lesions were included. Pathologic confirmation was performed by fine-needle aspiration (n=42, core needle biopsy (n=6, excision (n=54 and mastectomy (n=1. Complex cystic breast masses were classified into 3 types as followings; thick outer wall and/or thick internal septa (type I; thick septation and thick wall were defined as equal or more than 0.5 cm, masses containing mixed cystic and solid components (at least 50% of cystic component (type II, predominantly solid with eccentric cystic foci (at least 50% of solid component (type III. Results: In 103 complex cystic masses, there are 27 lesions (26% classified as type I cystic breast masses, 37 lesions (36% as type II cystic breast masses and 39 lesions (38% type III cystic breast masses, 26 lesions (25.2% are proved to be malignant. All of type I cystic breast masses in our study are benign, and 14 (38% of type II cystic breast masses and 12 lesions (31% of type III cystic breast lesions are proved to be malignant. Conclusions: Type II and III lesions should suggest possibility of malignancy and biopsy should be performed in all lesions. All type I lesion in this study are benign. None of other parameters we included in this study (size or margin can effectively differentiate between benign or malignant cystic breast lesions. Also, grading of the malignant lesions by using type of cystic breast mass cannot be applied.

  6. Primary structure determination of five sialylated oligosaccharides derived from bronchial mucus glycoproteins of patients suffering from cystic fibrosis. The occurrence of the NeuAc alpha(2----3)Gal beta(1----4)[Fuc alpha(1----3)] GlcNAc beta(1----.) structural element revealed by 500-MHz 1H NMR spectroscopy.

    Science.gov (United States)

    Lamblin, G; Boersma, A; Klein, A; Roussel, P; van Halbeek, H; Vliegenthart, J F

    1984-07-25

    The structure of sialylated carbohydrate units of bronchial mucins obtained from cystic fibrosis patients was investigated by 500-MHz 1H NMR spectroscopy in conjunction with sugar analysis. After subjecting the mucins to alkaline borohydride degradation, sialylated oligosaccharide-alditols were isolated by anion-exchange chromatography and fractionated by high performance liquid chromatography. Five compounds could be obtained in a rather pure state; their structures were established as the following: A-1, NeuAc alpha(2----3)Gal beta(1----4) [Fuc alpha(1----3)]GlcNAc beta(1----3)Gal-NAc-ol; A-2, NeuAc alpha(2----3)Gal beta(1----4)GlcNAc beta(1----6)-[GlcNAc beta (1----3)]GalNAc-o1; A-3, NeuAc alpha(2----3)Gal beta-(1----4)[Fuc alpha(1----3)]GlcNAc beta(1----3)Gal beta(1----3) GalNAc-o1; A-4, NeuAc alpha(2----3)Gal beta(1----4)[Fuc alpha(1----3)]Glc-NAc NAc beta(1----6)[GlcNAc beta(1----3)]GalNAc-o1; A-6,NeuAc alpha-(2----3) Gal beta(1----4)[Fuc alpha(1----3)]GlcNAc beta(1----6)[Gal beta-(1----4) GlcNAc beta(1----3)]GalNAc-o1. The simultaneous presence of sialic acid in alpha(2----3)-linkage to Gal and fucose in alpha(1----3)-linkage to GlcNAc of the same N-acetyllactosamine unit could be adequately proved by high resolution 1H NMR spectroscopy. This sequence constitutes a novel structural element for mucins.

  7. Cystic Eccrine Spiradenoma of the Finger Mimicking a Ganglion

    Directory of Open Access Journals (Sweden)

    Khalid F. Jaber, MBChB

    2014-01-01

    Full Text Available Summary: We report a rare case of cystic eccrine spiradenoma in the finger. A 46-year-old man presented with a cystic mass in his left index finger. Clinical assessment along with the investigation pointed toward a diagnosis of a ganglion. However, excisional biopsy of the mass revealed histopathological findings of cystic eccrine spiradenoma. Very few cases of eccrine spiradenoma have been reported in the hand and none of them were cystic in consistency. We believe that this case will draw the surgeon’s attention to the possibility of unusual differential diagnoses in the evaluation and treatment of cystic lumps in the hand.

  8. Teratoma of the anterior mediastinum presenting as a cystic neck mass: a case report

    Directory of Open Access Journals (Sweden)

    Agarwal Gaurav

    2008-01-01

    Full Text Available Abstract Introduction Teratomas of anterior mediastinum are rare tumors and are often slow growing, asymptomatic and detected incidentally on chest imaging. Results of surgical resection are very satisfactory. Case presentation A 19-years old male presented with an asymptomatic cystic neck mass. X-ray and CT scan of chest and neck showed an extrathyroidal multi-septate, predominantly cystic neck mass, that was continuous with a solid intrathoracic mass extending up to the level of right atrium and which contained areas of calcification and cystic necrosis. The mediastinal structures did not show any features of compression or infiltration. Fine needle aspiration cytology from the neck mass was suggestive of a dermoid cyst. In view of the extent and uncertain pathological nature of the tumor, it was excised via a combined cervical and trans-sternal route. Histo-pathology of the resected specimen confirmed the diagnosis of a mature cystic teratoma. The patient made an uneventful recovery, and after five years of follow-up, he has been symptom free with no clinical or radiological evidence of recurrent disease. We discuss the role of imaging and the need for surgical treatment to avoid possible catastrophic complications in patients with cervical and mediastinal masses of uncertain histological nature. Conclusion A mediastinal teratoma may rarely present as a cystic neck swelling due to its cephalad extension. This entity needs to be considered in cases where clinical and investigative work-up fail to provide a convincing clue to a primary neck pathology as cause of a cystic neck swelling.

  9. Left ventricular diastolic function in patients with advanced cystic fibrosis.

    Science.gov (United States)

    Koelling, Todd M; Dec, G William; Ginns, Leo C; Semigran, Marc J

    2003-05-01

    To assess left ventricular systolic and diastolic function in adult patients with cystic fibrosis using radionuclide ventriculography. Although myocardial fibrosis has been described in autopsy specimens of patients with cystic fibrosis, the possibility that myocardial dysfunction may occur during life in adult patients with cystic fibrosis has not been explored. To assess the possibility of cardiac dysfunction occurring in cystic fibrosis, we studied 40 patients with advanced cystic fibrosis with first-pass radionuclide ventriculography and compared them to 9 patients with advanced bronchiectasis and 18 normal control subjects. Indexes of right ventricular systolic function were similarly impaired in patients with cystic fibrosis and patients with bronchiectasis. Left ventricular ejection fraction of patients with cystic fibrosis, patients with bronchiectasis, and normal control subjects did not differ. Fractional left ventricular filling at 50% of diastole, an index of diastolic function, was significantly lower in patients with cystic fibrosis (54 +/- 13%, mean +/- SD) in comparison to patients with bronchiectasis (66 +/- 4%, p = 0.009) or normal control subjects (69 +/- 14, p = 0.0002). The contribution of atrial systole to total diastolic left ventricular filling was greater in patients with cystic fibrosis (38 +/- 18%) than in patients with bronchiectasis (21 +/- 4%, p = 0.01) or normal control subjects (25 +/- 12%, p = 0.01). Patients with advanced cystic fibrosis demonstrate impaired left ventricular distensibility when compared to normal control subjects and patients with bronchiectasis. Patients with cystic fibrosis may be at risk of heart failure due to right ventricular dysfunction or left ventricular diastolic dysfunction.

  10. Diagnosis and treatment of cystic lung disease

    Science.gov (United States)

    Park, Sanghoon; Lee, Eun Joo

    2017-01-01

    Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually Hogg-Dube syndrome, lymphocytic interstitial pneumonia/follicular bronchiolitis, and amyloidosis. PMID:28264540

  11. Barriers to adherence in cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf

    2012-01-01

    Danish patients with cystic fibrosis aged 14 to 25 years and their parents. Conclusions: The present study showed that the majority of adolescents with CF and their parents experienced barriers to treatment adherence. Patients and parents agreed that the three most common barriers encountered lack...

  12. Inhalation of antibiotics in cystic fibrosis

    NARCIS (Netherlands)

    Touw, D J; Brimicombe, R W; Hodson, M E; Heijerman, H G; Bakker, W

    Aerosol administration of antipseudomonal antibiotics is commonly used in cystic fibrosis. However, its contribution to the improvement of lung function, infection and quality of life is not well-established. All articles published from 1965 until the present time concerning the inhalation of

  13. Nutritional assessment in children with cystic fibrosis

    Science.gov (United States)

    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...

  14. Zinc supplementation in children with cystic fibrosis

    Science.gov (United States)

    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...

  15. Craniofacial morphology in children with cystic fibrosis.

    Science.gov (United States)

    Hellsing, E; Brattström, V; Strandvik, B

    1992-04-01

    Cystic fibrosis (CF) is a hereditary metabolic disorder with clinical symptoms of abnormal mucus production. This blocks the airways, gives pancreatic insufficiency, and increases sweat electrolytes. The progressive respiratory disease often leads to respiratory insufficiency and cor pulmonale. The aim of the present investigation was to examine the facial morphology in children with cystic fibrosis. The sample comprised 11 children with cystic fibrosis, who were divided in two groups, one with gastrointestinal disorders and the other with predominantly respiratory insufficiency. Eleven healthy children with normal occlusions were selected as controls. Lateral skull radiographs obtained in natural head posture were digitized, and linear and angular variables for the different groups calculated and compared statistically. The cystic fibrosis group showed open bite, decreased posterior facial height, increased mandibular and craniocervical inclination. Additionally, within the CF-group, the children with respiratory insufficiency differed more from the controls than the children with gastrointestinal disorders. Despite the small number of subjects, the facial morphology of the CF children showed a similar pattern to that of children with nasal respiratory obstruction due to enlarged adenoids or tonsils.

  16. Inhalation of antibiotics in cystic fibrosis

    NARCIS (Netherlands)

    Touw, D J; Brimicombe, R W; Hodson, M E; Heijerman, H G; Bakker, W

    1995-01-01

    Aerosol administration of antipseudomonal antibiotics is commonly used in cystic fibrosis. However, its contribution to the improvement of lung function, infection and quality of life is not well-established. All articles published from 1965 until the present time concerning the inhalation of antibi

  17. Cystic fibrosis : terminology and diagnostic algorithms

    NARCIS (Netherlands)

    De Boeck, K; Wilschanski, M; Castellani, C; Taylor, C; Cuppens, H; Dodge, J; Sinaasappel, M

    2006-01-01

    There is great heterogeneity in the clinical manifestations of cystic fibrosis (CF). Some patients may have all the classical manifestations of CF from infancy and have a relatively poor prognosis, while others have much milder or even atypical disease manifestations and still carry mutations on eac

  18. [Intra-cystic renal calcium milk].

    Science.gov (United States)

    Meunier, B; Médart, L; Massart, J P; Collignon, L

    2015-02-01

    Intra-cystic renal calcium milk is a rare entity. The authors report a clinical case, and describe the radiographic and tomodensitometric appearances. This 50 year old patient has been followed up for more than ten years for urinary lithiasis with recurrent pain.

  19. Psychosocial problems in children with cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, V; Thastum, M; Schiøtz, P O

    2007-01-01

    AIM: To compare the well-being of children (7-14 years) with cystic fibrosis (CF) (n = 43) with the well-being of healthy controls (n = 1121). METHODS: The self-report questionnaire Beck Youth Inventories (BYI) was used to study depression, anxiety, anger, disruptive behaviour and self...

  20. The mutational landscape of adenoid cystic carcinoma

    NARCIS (Netherlands)

    Ho, A.S.; Kannan, K.; Roy, D.M.; Morris, L.G.T.; Ganly, I.; Katabi, N.; Ramaswami, D.; Walsh, L.A.; Eng, S.; Huse, J.T.; Zhang, J.; Dolgalev, I.; Huberman, K.; Heguy, A.; Viale, A.; Drobnjak, M.; Leversha, M.A.; Rice, C.E.; Singh, B.; Iyer, N.G.; Leemans, C.R.; Bloemena, E.; Ferris, R.L.; Seethala, R.R.; Gross, B.E.; Liang, Y.; Sinha, R.; Peng, L.; Raphael, B.J.; Turcan, S.; Gong, Y.; Schultz, N.; Kim, S.; Chiosea, S.; Shah, J.P.; Sander, C.; Lee, W.; Chan, T.A.

    2013-01-01

    Adenoid cystic carcinomas (ACCs) are among the most enigmatic of human malignancies. These aggressive salivary gland cancers frequently recur and metastasize despite definitive treatment, with no known effective chemotherapy regimen. Here we determined the ACC mutational landscape and report the exo

  1. Intestinal organoids as model for cystic fibrosis

    NARCIS (Netherlands)

    Dekkers, J.F.

    2015-01-01

    Recent advances in adult stem cell culture technology have enabled long-term in vitro expansion of intestinal organoids or ‘mini-guts’. In this thesis, we used the organoid model to develop a novel assay to measure function of CFTR, the protein mutated in subjects with cystic fibrosis (CF). This met

  2. Nutrient Status of Adults with Cystic Fibrosis

    Science.gov (United States)

    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

  3. Adenoid cystic carcinoma of the minor salivary glands

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Kyung Yun; Lee, Kyung Ho; Kim, Dong Youn; Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

    1997-02-15

    Adenoid cystic carcinoma is a malignant salivary gland tumor with typical histologic patterns. The majority of the se tumors occurs in the minor salivary glands, especially mucosa of the hard palate. The authors experienced the patients, who complained the tumor-like soft tissue masses on the palatal and mouth floor area. After careful analysis of clinical, radiological and histopathological findings, we diagnosed them as adenoid cystic carcinomas in the minor salivary glands, obtained results were as follows : 1. Main clinical symptoms were a slow growing soft tissue mass with normal intact mucosa on the palatal area, and soft tissue mass with mild pain on the mouth floor area. 2. In the radiographic examinations, soft tissue masses were observed with invasion to adjacent structures, and moderate defined, heterogeneous soft tissue mass with enhanced margin, respectively. 3. In the histopathologic examinations, dark-stained, small uniform ballad's cells in the hyaline or fibrous stroma were observed as solid and cribriform patterns, respectively.

  4. A Metagenomic approach to characterize temperate bacteriophage populations from cystic fibrosis and non-cystic fibrosis bronchiectasis patients

    Directory of Open Access Journals (Sweden)

    Mohammad Adnan Tariq

    2015-02-01

    Full Text Available Pseudomonas aeruginosa (Pa, normally a soil commensal, is an important opportunistic pathogen in Cystic Fibrosis (CF and non-Cystic Fibrosis Bronchiectasis (nCFBR. Persistent infection correlates with accelerated decline in lung function and early mortality. The horizontal transfer of DNA by temperate bacteriophages can add gene function and selective advantages to their bacterial host within the constrained environment of the lower lung. In this study, we chemically induce temperate bacteriophages from clonal cultures of Pa and identify their mixed viral communities employing metagenomic approaches. We compared 92 temperate phage metagenomes stratified from these clinical backgrounds (47 CF and 45 nCFBR Pa isolates using MG-RAST and GeneWise2. KEGG analysis shows the complexity of temperate phage accessory gene carriage increases with duration and severity of the disease. Furthermore we identify the presence of Ig-like motifs within phage structural genes linked to bacterial adhesion and carbohydrate binding including Big_2, He_Pig and Fn3. This study provides the first clinical support to the proposed bacteriophage adherence to mucus (BAM model and the evolution of phages interacting at these mucosal surfaces over time.

  5. Oligodendroglioma arising in a mature cystic ovarian teratoma in a child.

    Science.gov (United States)

    Büyükka Bay, Sema; Corapcioglu, Funda; Kavurt, Sumru; Müezzinoğlu, Bahar; Anik, Yonca; Tugay, Melih

    2010-11-01

    In childhood mature cystic teratomas are the most common type of ovarian germ cell tumors. Tumors of neuroepithelial origin are extremely rare in mature teratomas. To the authors' knowledge, this is the first case report oligodendroglioma arising in a mature cystic ovarian teratoma in children. A 13-year-old girl presented with a history of pelvic pain for 2 months. An ultrasound examination showed a monolateral multicystic, calcific ovarian mass, measuring approximately 6 x 5 cm, arising in the left over and adnexia, suggesting a teratoma. An exploratorative laparotomy and ooferectomy were performed. On histopatological examination, various samples from cystic areas had mature tissues from all 3 germ cell layers, including skin, bone, bronchial structures, and cerebellum. Sections from solid areas showed uniform population of monotonous, rounded cells with indistinct cytoplasm and having perinuclear halo (fried-egg appearance) on a fibrillary, neuropilic background. Microcalcifications as calcospherites were noted in the stroma. Based on the typical morphological features, the cased was diagnosed as mature cystic teratoma with low-grade oligodendroglioma. To the authors' knowledge, there are a few reports in the literature of an oligodendroglioma arising in an ovarian teratoma in adults and this presented patient is the first case in childhood.

  6. Cystic fibrosis Delta F508 heterozygotes, smoking, and reproduction

    DEFF Research Database (Denmark)

    Dahl, Morten; Tybjaerg-Hansen, A; Wittrup, H H

    1998-01-01

    Cystic fibrosis is the most common fatal autosomal recessive disease affecting Caucasian populations. It remains a puzzle how this disease is maintained at such a remarkably high incidence, however, it could be due to a reproductive advantage in cystic fibrosis heterozygotes. We tested this hypot......Cystic fibrosis is the most common fatal autosomal recessive disease affecting Caucasian populations. It remains a puzzle how this disease is maintained at such a remarkably high incidence, however, it could be due to a reproductive advantage in cystic fibrosis heterozygotes. We tested.......001). In conclusion, overall these results do not support a reproductive advantage for cystic fibrosis DeltaF508 heterozygotes. However, the data cannot totally exclude the possibility that nonsmoking DeltaF508 heterozygotes experience a reproductive advantage while smoking DeltaF508 heterozygotes experience...... the opposite, a reproductive disadvantage. Accordingly, the data suggest a previously undocumented role of smoking on fecundity among cystic fibrosis heterozygotes....

  7. Inflammation and its genesis in cystic fibrosis.

    Science.gov (United States)

    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.

  8. Cystic fibrosis lung disease in adult patients.

    Science.gov (United States)

    Vender, Robert L

    2008-04-01

    As the longevity of all patients with cystic fibrosis (CF) continues to increase (median 2005 survival=36.8 years), more adult patients will be receiving their medical care from nonpediatric adult-care providers. Cystic fibrosis remains a fatal disease, with more than 80% of patients dying after the age of 18 years, and most deaths resulting from pulmonary disease. The changing epidemiology requires adult-care providers to become knowledgeable and competent in the clinical management of adults with CF. Physicians must understand the influence of specific genotype on phenotypic disease presentation and severity, the pathogenic factors determining lung disease onset and progression, the impact of comorbid disease factors such as CF-related diabetes and malnutrition upon lung disease severity, and the currently approved or standard accepted therapies used for chronic management of CF lung disease. This knowledge is critical to help alleviate morbidity and improve mortality for the rapidly expanding population of adults with CF.

  9. Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis.

    Science.gov (United States)

    Aslam, Aisha A; Higgins, Colin; Sinha, Ian P; Southern, Kevin W

    2017-01-19

    Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance. The resulting thick mucus makes the airway prone to chronic infection and inflammation, which consequently damages the structure of the airways, eventually leading to respiratory failure. Additionally, abnormalities in the cystic fibrosis transmembrane conductance regulator protein lead to other systemic complications including malnutrition, diabetes and subfertility.Five classes of mutation have been described, depending on the impact of the mutation on the processing of the cystic fibrosis transmembrane conductance regulator protein in the cell. In class I mutations, the presence of premature termination codons prevents the production of any functional protein resulting in a severe cystic fibrosis phenotype. Advances in the understanding of the molecular genetics of cystic fibrosis has led to the development of novel mutation-specific therapies. Therapies targeting class I mutations (premature termination codons) aim to mask the abnormal gene sequence and enable the normal cellular mechanism to read through the mutation, potentially restoring the production of the cystic fibrosis transmembrane conductance regulator protein. This could in turn make salt transport in the cells function more normally and may decrease the chronic infection and inflammation that characterises lung disease in people with cystic fibrosis. To evaluate the benefits and harms of ataluren and similar compounds on clinically important outcomes in people with

  10. Impending Airway Compromise due to Cystic Hygroma

    Directory of Open Access Journals (Sweden)

    Itai Shavit

    2011-05-01

    Full Text Available We report on a 3-month-old infant, who arrived in the pediatric emergency department (ED with a cervical cystic hygroma causing an impending compromise of the airway. We recognize that such a lesion can rapidly progress, and the judicious use of imaging in the ED may help to avoid airway compromise and possibly fatal complications. [West J Emerg Med. 2011;12(4:368–369.

  11. Adenoid Cystic Carcinoma of the Larynx

    Directory of Open Access Journals (Sweden)

    Roopesh Sankaran

    2014-06-01

    Full Text Available This is case where a middle aged gentleman presented with history of progressively worseninghoarseness for 1 year. On further history taking and examination including imaging noted patient had supraglottic mass arising from left ventricle, measuring 2x2cm with smooth surface mimicking a benign lesion. Histopatological examination revealed as adenoid cystic carcinoma of left ventricle with perineural invasion . [Cukurova Med J 2014; 39(3.000: 611-615

  12. Posterior midline cervical fetal cystic hygroma.

    Directory of Open Access Journals (Sweden)

    Oak S

    1992-04-01

    Full Text Available Posterior midline cervical cystic hygromas (PMC are frequently found associated with chromosomal aberrations and usually do not survive. The present report illustrates diagnosis of this condition by sonography in an 18 weeks old fetus and an amniocentesis revealed 45 x0 karyotype and increased concentration of alpha-fetoproteins. Pregnancy was terminated in view of Turner′s syndrome. The etiology and natural history of the condition is reviewed.

  13. Mycobacterium abscessus and Children with Cystic Fibrosis

    Science.gov (United States)

    Sermet-Gaudelus, Isabelle; Le Bourgeois, Muriel; Pierre-Audigier, Catherine; Offredo, Catherine; Guillemot, Didier; Halley, Sophie; Akoua-Koffi, Chantal; Vincent, Véronique; Sivadon-Tardy, Valérie; Ferroni, Agnès; Berche, Patrick; Scheinmann, Pierre; Lenoir, Gérard

    2003-01-01

    We prospectively studied 298 patients with cystic fibrosis (mean age 11.3 years; range 2 months to 32 years; sex ratio, 0.47) for nontuberculous mycobacteria in respiratory samples from January 1, 1996, to December 31, 1999. Mycobacterium abscessus was by far the most prevalent nontuberculous mycobacterium: 15 patients (6 male, 9 female; mean age 11.9 years; range 2.5–22 years) had at least one positive sample for this microorganism (versus 6 patients positive for M. avium complex), including 10 with >3 positive samples (versus 3 patients for M. avium complex). The M. abscessus isolates from 14 patients were typed by pulsed-field gel electrophoresis: each of the 14 patients harbored a unique strain, ruling out a common environmental reservoir or person-to-person transmission. Water samples collected in the cystic fibrosis center were negative for M. abscessus. This major mycobacterial pathogen in children and teenagers with cystic fibrosis does not appear to be acquired nosocomially. PMID:14720400

  14. A case of cystic hemangioma in mesentery

    Directory of Open Access Journals (Sweden)

    Makoto Komura

    2017-08-01

    Full Text Available A nine-year-old, otherwise healthy girl presented with abdominal pain. On exam, there was a palpable cystic tumor in the left abdomen. According to imaging examinations, we tentatively diagnosed the tumor as lymphangioma of mesentery with bleeding. We planned to perform laparoscopic surgery to remove the tumor. On laparoscopy, cyst aspiration was performed to reduce the volume of the cysts, and the aspirated fluid was found to contain red blood cells. Due to technical difficulties, laparoscopic surgery was converted to open surgery. RBCs were detected in the cyst fluid at the sigmoid colon and intestinal mesentery. Resection of the cystic tumor and sigmoidectomy were performed. On pathologic examination of the tumor, there were multiple cysts but there was no cavernous part. The largest cyst was 6 × 5 × 3 cm. Simple squamous epithelium cells were found along parts of the inner lining of enlarged luminal cysts. On immunohistochemical staining, the tumor was positive for CD31 and CD34, and negative on D2-40 antibody staining. Therefore, we diagnosed this specimen as hemangioma with giant cysts at the mesentery. We conclude that bleeding into cysts of a hemangioma of mesentery might lead to the development of giant cysts and, in turn, a cystic tumor in the abdomen.

  15. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

    2006-04-15

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  16. [Treatment of Cystic Fibrosis with CFTR Modulators].

    Science.gov (United States)

    Tümmler, B

    2016-05-01

    Personalized medicine promises that medical decisions, practices and products are tailored to the individual patient. Cystic fibrosis, an inherited disorder of chloride and bicarbonate transport in exocrine glands, is the first successful example of customized drug development for mutation-specific therapy. There are two classes of CFTR modulators: potentiators that increase the activity of CFTR at the cell surface, and correctors that either promote the read-through of nonsense mutations or facilitate the translation, folding, maturation and trafficking of mutant CFTR to the cell surface. The potentiator ivacaftor and the corrector lumacaftor are approved in Germany for the treatment of people with cystic fibrosis who carry a gating mutation such as p.Gly551Asp or who are homozygous for the most common mutation p.Phe508del, respectively. This report provides an overview of the basic defect in cystic fibrosis, the population genetics of CFTR mutations in Germany and the bioassays to assess CFTR function in humans together with the major achievements of preclinical research and clinical trials to bring CFTR modulators to the clinic. Some practical information on the use of ivacaftor and lumacaftor in daily practice and an update on pitfalls, challenges and novel strategies of bench-to-bedside development of CFTR modulators are also provided.

  17. Intraosseous adenoid cystic carcinoma of maxilla: A rare case report

    Directory of Open Access Journals (Sweden)

    Prasannasrinivas Suresh Deshpande

    2013-01-01

    Full Text Available Adenoid cystic carcinoma (ACC accounts for approximately 6-10% of all salivary gland tumors. Palatal minor salivary glands, parotid, and sub-mandibular glands are usually affected. Rarely, these lesions arising intraosseously have been reported. Mandible is commonly involved than maxilla. The present case is a giant ACC involving the right maxilla. A thorough clinical and radiographic evaluation was performed to assess the involvement of surrounding vital structures along with a meticulous metastatic work-up. Computed tomography showed a giant lesion in maxilla encroaching the left nasal fossa, antrum, buccal space, and oral cavity. No metastasis was noted. Histological evaluation from multiple sites showed both cribriform and solid patterns. Radiotherapy was given as patient did not comply for surgery. Though central ACC is extremely rare, especially in maxilla, it should be included in the differentials for lesions in maxilla. A prompt diagnosis with treatment and long-term follow-up is advised in such cases.

  18. Mucus Distribution Model in a Lung with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Sara Zarei

    2012-01-01

    Full Text Available Cystic fibrosis (CF is the most common autosomal recessive disease in Caucasians with a reported incidence of 1 in every 3200 live births. Most strikingly, CF is associated with early mortality. Host in flammatory responses result in airway mucus plugging, airway wall edema, and eventual destruction of airway wall support structure. Despite aggressive treatment, the median age of survival is approximately 38 years. This work is the first attempt to parameterize the distributions of mucus in a CF lung as a function of time. By default, the model makes arbitrary choices at each stage of the construction process, whereby the simplest choice is made. The model is sophisticated enough to fit the average CF patients' spirometric data over time and to identify several interesting parameters: probability of colonization, mucus volume growth rate, and scarring rate. Extensions of the model appropriate for describing the dynamics of single patient MRI data are also discussed.

  19. Minimally invasive surgery colloidal cystic thyroid nodules

    Directory of Open Access Journals (Sweden)

    V G Petrov

    2013-12-01

    Full Text Available An analysis of the use of minimally invasive interventions - laser-induced thermotherapy (LITT, ethanol destruction (ED under ultrasound guidance, a combination of these methods in the treatment of сystic-col- loidal nodes (CCN of thyroid nodules in 120 patients. ED carried out in 31 patients with cystic destruction of a site of more than 70%. Marked decrease in the average volume with 4.68 ± 2.25 cm3 to 1.15 ± 0.9 cm3. In 4 patients remained cystic cavity of small size, which required a combination of LITT (CombiLITT. Nine patients underwent LITT solid residue of more than 1 cm3. The average size of nodules within 6 months after the primary surgery was 0.9 ± 0.3 cm3. СombiLITT performed in 42 patients with cystic cavity from 20 to 70%. The volume of units decreased from 7.98 ± 4.56 to 1.87 ± 0.9 cm3. After 3 months, 11 patients with the size of a solid residue of more than 1 cm3 held LITT. All of them when viewed after 3 months observed decrease of more than 50%. LITT performed 23 patients with major nodes and cystic cavities less than 20% of the node. Marked decrease in the amount of nodes with 2.89 ± 1.25 cm3 to 1.42 ± 0.8 cm3. Retesting LITT took 2 patients. After 6 months, the average amount of units was 0.7 ± 0.2 cm3 LITT conducted in 24 patients with small cystic nodes to 1 cm3. Marked decrease in size from 0.69 ± 0.23 cm3 to 0.29 ± 0.12 cm3. Varied selection of minimally inva- sive treatment of CCN is effective and in most cases, to achieve reduction of the size of nodes.

  20. Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Cleveland Robert H

    2010-04-01

    Full Text Available Abstract Introduction Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. Case presentation We describe a pair of African-American brothers, aged 21 and 27, with cystic fibrosis. They were homozygous for a rare frameshift mutation in the cystic fibrosis transmembrane conductance regulator 3791delC, which would be expected to cause significant morbidity. Although 80% of cystic fibrosis patients are colonized with Pseudomonas aeruginosa by eight years of age, the older brother had no serum opsonic antibody titer to P. aeruginosa by age 13 and therefore would have failed to mount an effective antibody response to the alginate (mucoid polysaccharide capsule of P. aeruginosa. He was not colonized with P. aeruginosa until 24 years of age. Similarly, the younger brother was not colonized with P. aeruginosa until age 20 and had no significant lung disease. Conclusion Despite a prevailing idea in cystic fibrosis research that the amount of functional cystic fibrosis transmembrane conductance regulator predicts clinical status, our results indicated that respiratory disease severity in cystic fibrosis exhibits phenotypic heterogeneity. If this heterogeneity is, in part, genetic, it is most likely derived from genes outside the cystic fibrosis transmembrane conductance regulator locus.

  1. Differential diagnosis and radiological management of cystic pancreatic lesions; Differenzialdiagnose und radiologisches Management von zystischen Tumoren des Pankreas

    Energy Technology Data Exchange (ETDEWEB)

    Buerke, B.; Heindel, W.; Wessling, J. [Universitaetsklinikum Muenster (Germany). Inst. fuer Klinische Radiologie

    2010-10-15

    Cystic pancreatic lesions are often discovered incidentally as an asymptomatic finding, at a rate which is increasing considerably. In recent years the understanding of such tumors has become clearly differentiated. The spectrum of relevant lesions includes in particular the intraductal papillary mucinous neoplasm (IPMN), serous cystic neoplasm (SCN) and mucinous cystic neoplasm (MCN). With certain knowledge of their histological and radiomorphological structure as well as their distribution in terms of location, age and sex, such tumors are easy to differentiate and demarcate from common pancreatic pseudocysts. This also implies the fundamental understanding of complementary endoscopic procedures such as endosonography, which enables aspiration of the content of the cyst. A number of cystic pancreatic lesions have the potential to undergo malignant transformation along the adenoma-carcinoma sequence and therefore necessitate a differentiated approach to their radiological management. This review aims to develop a broad understanding of the pathological and radiomorphological characteristics of cystic pancreatic lesions and provides advice regarding procedures, particularly with respect to incidentally detected lesions. (orig.)

  2. Oral calorie supplements for cystic fibrosis.

    Science.gov (United States)

    Smyth, Rosalind L; Rayner, Oli

    2017-05-04

    Poor nutrition occurs frequently in people with cystic fibrosis and is associated with other adverse outcomes. Oral calorie supplements are used to increase total daily calorie intake and improve weight gain. However, they are expensive and there are concerns they may reduce the amount of food eaten and not improve overall energy intake. This is an update of a previously published review. To establish whether in people with cystic fibrosis, oral calorie supplements: increase daily calorie intake; and improve overall nutritional intake, nutritional indices, lung function, survival and quality of life. To assess adverse effects associated with using these supplements. We searched the Cochrane Cystic Fibrosis Trials Register comprising references from comprehensive electronic database searches, handsearches of relevant journals and abstract books of conference proceedings. We contacted companies marketing oral calorie supplements.Last search: 18 October 2016. Randomised or quasi-randomised controlled trials comparing use of oral calorie supplements for at least one month to increase calorie intake with no specific intervention or additional nutritional advice in people with cystic fibrosis. We independently selected the included trials, assessed risk of bias and extracted data. We contacted the authors of included trials and obtained additional information for two trials. We identified 21 trials and included three, reporting results from 131 participants lasting between three months and one year. Two trials compared supplements to additional nutritional advice and one to no intervention. Two of the included trials recruited only children. In one trial the risk of bias was low across all domains, in a second trial the risk of bias was largely unclear and in the third mainly low. Blinding of participants was unclear in two of the trials. Also, in one trial the clinical condition of groups appeared to be unevenly balanced at baseline and in another trial there were

  3. Cone Beam Computed Tomography Findings in Calcifying Cystic Odontogenic Tumor Associated with Odontome: A Case Report

    Directory of Open Access Journals (Sweden)

    Tushar Phulambrikar

    2015-12-01

    Full Text Available The calcifying cystic odontogenic tumor (CCOT is a rare cystic odontogenic neoplasm frequently found in association with odontome. This report documents a case of CCOT associated with an odontome arising in the anterior maxilla in a 28-year-old man. Conventional radiographs showed internal calcification within the lesion but were unable to visualize its relation with the adjacent structures and its accurate extent. In this case cone beam computed tomography (CBCT could accurately reveal the extent and the internal structure of the lesion which aided the presumptive diagnosis of the lesion as CCOT. This advanced imaging technique proved to be extremely useful in the radiographic assessment and management of this neoplasm of the maxilla.

  4. Cystic lymphagioma: diagnostic by ecography and computerized tomography. Hallazgos radiologicos en el linfagioma quistico

    Energy Technology Data Exchange (ETDEWEB)

    Escribano, J.; Zurera, L.J.; Cano, A.; Canis, M.; Delgado, F.; Garcia-Revillo, J.

    1991-01-01

    We present four cases of cystic lymphagioma (CL) confirmed by pathoanatomic tests. The first, cervicothoracic, in a neonate in whom echography raised suspicion of an intrauterine localization. The second, in a male aged 17, right laterocervical, with recurrence in mediastinus. Another one in a woman aged 30 suffering from cervicothoracic and abdominal damage. Finally, another woman aged 36 with pure mediastinal CL. Patients presented with nonspecific symptomatology. Simple radiographies showed well delimited ''water''-dense tumoral masses and in only one case was displacement of mediastinal structures found. By echography CL were observed to have cystic features, with interior septa, By CT it was confirmed that the lesion was well delimited, sometimes enclosed in a capsula and presented low density homogeneous composition. The lesion itself to the neighboring structures rather that displace them. By angiography we could observe that mass was avascular and displaced normal vessels (Author)

  5. Comparing the harmful effects of nontuberculous mycobacteria and Gram negative bacteria on lung function in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Taylor-Robinson, David; Waldmann, Elisabeth

    2015-01-01

    BACKGROUND: To better understand the relative effects of infection with nontuberculous mycobacteria and Gram negative bacteria on lung function decline in cystic fibrosis, we assessed the impact of each infection in a Danish setting. METHODS: Longitudinal registry study of 432 patients with cystic...... fibrosis contributing 53,771 lung function measures between 1974 and 2014. We used a mixed effects model with longitudinally structured correlation, while adjusting for clinically important covariates. RESULTS: Infections with a significant impact on rate of decline in %FEV1 were Mycobacterium abscessus...

  6. Importance of cone beam computed tomography for diagnosis of calcifying cystic odontogenic tumour associated to odontoma. Report of a case.

    Science.gov (United States)

    Marques, Yonara-Maria-Freire-Soares; Botelho, Tessa-de Lucena; Xavier, Flávia-Caló-de Aquino; Rangel, Andrea-Leão; Rege, Inara-Carneiro-Costa; Mantesso, Andrea

    2010-05-01

    The calcifying cystic odontogenic tumour (CCOT) is a rare benign cystic neoplasm not infrequently associated with odontoma. This report documents a case of CCOT associated with compound odontoma arising in the anterior maxilla in a 25-year-old woman. Conventional radiographs showed a large calcified mass with poorly visualized radiolucent margins. The extent and condition of the internal structure of the CCOT associated with odontoma was able to be determined based on radiographic findings from cone beam computed tomography. This advanced image technique proved to be extremely useful in the radiographic assessment of this particular neoplasm of the jawbones.

  7. The ABC protein turned chloride channel whose failure causes cystic fibrosis

    OpenAIRE

    Gadsby, David C.; Vergani, Paola; Csanády, László

    2006-01-01

    CFTR chloride channels are encoded by the gene mutated in patients with cystic fibrosis. These channels belong to the superfamily of ABC transporter ATPases. ATP-driven conformational changes, which in other ABC proteins fuel uphill substrate transport across cellular membranes, in CFTR open and close a gate to allow transmembrane flow of anions down their electrochemical gradient. New structural and biochemical information from prokaryotic ABC proteins and functional information from CFTR ch...

  8. Co-morbidity of cystic fibrosis and celiac disease in Scandinavian cystic fibrosis patients

    DEFF Research Database (Denmark)

    Fluge, Gjermund; Olesen, Hanne Vebert; Giljam, Marita

    2009-01-01

    Background: The co-morbidity of cystic fibrosis (CF) and celiac disease (CD) has been reported sporadically since the 1960s. To our knowledge, this is the first time a systematic screening is performed in a large cohort of CF patients. Methods: Transglutaminase-IgA (TGA), endomysium-IgA (EMA...

  9. Radiological Evaluation of Cystic Lesions Presenting as Painful Knee

    Directory of Open Access Journals (Sweden)

    Rajpal Yadav

    2014-06-01

    Conclusion:Painful knee can be a presenting symptom of many cystic lesions of knee. Ultrasound can show the cystic abnormality, but it is only the Magnetic Resonance Imaging which can demonstrate the complete entity. [Cukurova Med J 2014; 39(3.000: 550-558

  10. LUNG TRANSPLANTATION IN PATIENTS WITH CYSTIC-FIBROSIS

    NARCIS (Netherlands)

    MANNES, GPM; VANDERBIJ, W

    1995-01-01

    Worldwide more than 600 heart-lung or lung transplantations have been performed in patients with cystic fibrosis and end-stage respiratory disease. At the University Hospital in Groningen 10 patients with cystic fibrosis underwent bilateral sequential lung transplantation until April 1994. The 1-yea

  11. Model of mucociliary clearance in cystic fibrosis lungs

    NARCIS (Netherlands)

    P. Kurbatova (Polina); N. Bessonov; V. Volpert; H.A.W.M. Tiddens (Harm); C. Cornu (Catherine); P. Nony; D. Caudri (Daan)

    2015-01-01

    textabstractMucus clearance is a primary innate defense mechanism in the human airways. Cystic fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CF is characterized by dehydration of airway surface

  12. Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis.

    NARCIS (Netherlands)

    A. Gates; L. Warnock; Dr. C.P. van der Schans

    2013-01-01

    BACKGROUND: Chest physiotherapy is widely used in people with cystic fibrosis in order to clear mucus from the airways. OBJECTIVES: To determine the effectiveness and acceptability of chest physiotherapy compared to no treatment or spontaneous cough alone to improve mucus clearance in cystic

  13. First Isolations of Segniliparus rugosus from Patients with Cystic Fibrosis▿

    Science.gov (United States)

    Butler, W. Ray; Sheils, Catherine A.; Brown-Elliott, Barbara A.; Charles, Nadege; Colin, Andrew A.; Gant, Mary J.; Goodill, John; Hindman, Diane; Toney, Sean R.; Wallace, Richard J.; Yakrus, Mitchell A.

    2007-01-01

    We report three cases of the new genus Segniliparus isolated from patients with cystic fibrosis. All isolates were unambiguously identified by 16S rRNA gene sequencing as Segniliparus rugosus (GenBank accession no. AY 60892). Drug susceptibility results that may enhance treatment for cystic fibrosis patients with this opportunistic pathogen are presented. PMID:17670929

  14. Cystic duct closure by sealing with bipolar electrocoagulation

    DEFF Research Database (Denmark)

    Schulze, S; Damgaard, B; Jørgensen, Lars Nannestad;

    2010-01-01

    BACKGROUND: Cystic duct leakage after cholecystectomy is not uncommon and is a potentially serious complication. The aim of this study was to assess a bipolar sealing system (LigaSure) for closure of the cystic duct. METHODS: The records from consecutive laparoscopic cholecystectomies performed i...

  15. Differential points of mediastinal cystic lesion in chest computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Jin; Baek, Jang Mi; Song, Jang Hyeon; Seon, Hyun Ju [Dept. of Radiology, Chonnam National University Hospital, Gwangju (Korea, Republic of); Kim, Yun Hyeon [Dept. of Radiology, Chonnam National University Hwasun Hospital, Hwasun (Korea, Republic of)

    2013-10-15

    To find differential diagnostic imaging findings of mediastinal cystic lesions in chest computed tomography. We retrospectively reviewed imaging findings of 70 patients with histopathologically proven mediastinal cystic lesions. They were 33 male and 37 female patients. Among 70 cases, 49 cases were in the anterior mediastinum, 12 cases were in the middle mediastinum, and 9 cases were in the posterior mediastinum. 19 patients had symptoms. Chest discomfort was the most common symptom. When the cystic lesion was located in the anterior mediastinum, and unilocular, the possibility of thymic cyst was the most likely (p < 0.0027). When the cystic lesion was located in the anterior mediastinum and was multilocular with a relatively thick wall, the possibility of a mature cystic teratoma was the most likely (p < 0.001). When the lesion was a high attenuation cystic lesion located around the air-way, the possibility of a bronchogenic cyst was the most likely (p < 0.001). Chest CT gives information about the location, loculation, wall thickness and internal attenuation of mediastinal cystic lesions. And certain details seen on CT imaging can help with the correct diagnosis, especially in the cases of thymic cyst, mature cystic teratoma and bronchogenic cyst.

  16. Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

    DEFF Research Database (Denmark)

    Johansen, H.K.; Gøtzsche, Peter C.; Johansen, Helle Krogh

    2008-01-01

    BACKGROUND: Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed. OBJECTIVES......: To assess the effectiveness of vaccination against Pseudomonas aeruginosa in cystic fibrosis. SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register using the terms vaccines AND pseudomonas (last search May 2008) and PubMed using the terms vaccin* AND cystic...... fibrosis (last search May 2008). SELECTION CRITERIA: Randomised trials (published or unpublished) comparing Pseudomonas aeruginosa vaccines (oral, parenteral or intranasal) with control vaccines or no intervention in cystic fibrosis. DATA COLLECTION AND ANALYSIS: The authors independently selected trials...

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

    Science.gov (United States)

    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.

  18. Microbiological surveillance in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Paola Gualdi

    2010-06-01

    Full Text Available Pulmonary infections in patients with cystic fibrosis (CF, are a major cause of morbidity and mortality. Prevention, diagnosis and therapy in cystic fibrosis, lead to the necessary collaboration between clinical and laboratory to identify effective strategies and appropriate solutions to address the problems inherent isolation micro-organisms, antibiotic strategies, overcoming of bacterial resistance and other problems management of these patients. The task of the microbiology laboratory and research in quickly and accurately, the agents responsible for these infectious processes, in order to isolate them from material, identify and determine their sensitivity antibiotics. A microbiological surveillance on 34 patients (13 males and 21 females with CF and related to the “Support Services Provincial Trento for the treatment of cystic fibrosis “in the period July 2005 - August 2008, was carried out. 180 Gram positive and 278 of Gram negative bacteria as well as 235 fungi wre collected. Staphylococcus aureus was the most frequently organism found in patients with CF with an incidence of 23% on 156 strains isolated, Pseudomonas aeruginosa was collected 19% of all microorganisms isolated corresponding to 131 strains, Candida albicans is the yeast often isolated with a frequency 22% equal to 149 isolates, Aspergillus fumigatus was isolated at a rate of 8%. From the data we collected and processed has been noted that the local epidemiology of CF patients reflects as reported in the scientific literature and national international consulting, both as a type microorganisms that frequency also isolated compared to age groups. Considering the score of Bartlett as discriminating respiratory fitness of the material, it has been observed that only 32 samples over 327 total (10% would materials insignificant. It follows therefore that the time of sample collection, followed by personnel (physiotherapists dedicated to CF patients, represents a crucial step

  19. Mediastinal Cystic Lesions; Experience of 77 Patients

    Directory of Open Access Journals (Sweden)

    Koray Aydogdu

    2012-09-01

    Full Text Available Aim: Cystic lesions of the mediastinum are rare. Most of them are congenital lesions and account for 20% to 30 % of all primary masses of the mediastinum. A retrospective study of primary mediastinal cystic lesions (PMCL was conducted to review their clinical, radiological, and pathological features, as well as the early and long-term results of surgical management.Material and Method: From January 1998 through July 2008, 77 patients—47 females and 30 males, aged 4–81 years—with PMCL were treated in our department. All of the patients were analysed acording to the age, gender, symptoms, types of cysts and type of surgery. Results: There were thirty male patients (40 %, aged 4–81 years with a mean age of 39.2, and forty-seven female (60 % patients, aged 16–65 with a mean age of 35.8. Some of the patients’ pathology slides who were diagnosed as benign cysts before are re-examined then reclassified with the new diagnosis. There were thirty-one bronchogenic cysts (44 %; 19 female, 12 males, eighteen  pericardial coelomic cysts (24 %; 7 female, 11 male, five mediastinal hydatid cysts (6 %; 4 female, 1 male, five enterogenous cysts (6 %; 3 female, 2 male,  eight thymic cysts (10 %; 7 female, 1 male, two cystic lymphangiomatosis (4 %; 1 female, 1 male, five teratogenous cysts (6 %;  4 female, 1 male, and three pleural cysts (2 female, 1 male. The main symptoms were pain, fever, dyspnea, and coughing. Twenty-three patients (30 % were asymptomatic. All of the patients underwent surgery. Mean stay in the hospital was 8 days. We did not have any deaths. Discussion: Most of the patients with PMCL were female. Most of the PMCL were foregut lesions. Despite varied location and histology, the clinical presentation of mediastinal cysts was similar. Surgery provides the best chance for cure in all cases of PMCL.

  20. Airway clearance therapy in cystic fibrosis patients.

    Science.gov (United States)

    Pisi, Giovanna; Chetta, Alfredo

    2009-08-01

    Cystic fibrosis (CF) is the most common life-shortening inherited disease affecting Caucasian people. In CF, the major feature of lung disease is the retention of mucus due to impaired clearance of abnormally viscous airway secretions. Airway clearance techniques (ACTs) may significantly improve mucociliary clearance and gas exchange, thereby being of clinical benefit in reducing pulmonary complications in CF patients. ACTs include conventional chest physiotherapy, active cycle of breathing techniques, autogenic drainage, positive expiratory pressure and high-frequency chest compression. In order to suit the needs of patients, families and care-givers, ACTs need to be individually and continuously adapted.

  1. [Cystic fibrosis: centers and care networks organization].

    Science.gov (United States)

    Bellon, G

    2012-05-01

    More than 20 years after the gene discovery, without specific treatment, the observed improvement of the cystic fibrosis prognosis appears due to management's organization as well as early diagnosis (neonatal screening) or progress in symptomatic treatment. The CF Centers (CRCM) official recognition was a necessary step before generalization of routine neonatal screening (October, 2002). Actually French CF management relies on three levels of organization: CF centers, regional care networks and French CF Society, in close relationship with patients association (Vaincre la Mucoviscidose). Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  2. [Measurement of pulmonary inflammation in cystic fibrosis].

    Science.gov (United States)

    Fayon, M; Chiron, R; Abely, M

    2008-06-01

    Lung inflammation is a pivotal phenomenon in the pathogenesis of cystic fibrosis. Inflammation can be measured and quantified within a research perspective, as well as in daily clinical practice. In this review paper, the "Inflammation Task Force" of the "Société Française de Mucoviscidose" has reviewed the literature regarding the various techniques currently available (bronchoalveolar lavage, sputum analysis, nasal wash and brushing, exhaled breath condensates, carbon monoxide and nitric oxide, and systemic measurements (plasma and urine)). The interpretation of all these determinations in children and adults is also discussed.

  3. Mycobacterium abscessus and Children with Cystic Fibrosis

    OpenAIRE

    Sermet-Gaudelus, Isabelle; Le Bourgeois, Muriel; Pierre-Audigier, Catherine; Offredo, Catherine; Guillemot, Didier; Halley, Sophie; Akoua-Koffi, Chantal; Vincent, Véronique; Sivadon-Tardy, Valérie; Ferroni, Agnès; Berche, Patrick; Scheinmann, Pierre; Lenoir, Gérard; Gaillard, Jean-Louis

    2003-01-01

    We prospectively studied 298 patients with cystic fibrosis (mean age 11.3 years; range 2 months to 32 years; sex ratio, 0.47) for nontuberculous mycobacteria in respiratory samples from January 1, 1996, to December 31, 1999. Mycobacterium abscessus was by far the most prevalent nontuberculous mycobacterium: 15 patients (6 male, 9 female; mean age 11.9 years; range 2.5–22 years) had at least one positive sample for this microorganism (versus 6 patients positive for M. avium complex), including...

  4. Normal bone mineral density in cystic fibrosis

    OpenAIRE

    Hardin, D.; R. Arumugam; Seilheimer, D.; Leblanc, A.; Ellis, K.

    2001-01-01

    BACKGROUND—Osteoporosis has been reported as a complication of cystic fibrosis (CF).
AIMS—To measure bone mineral density (BMD) in non-acutely ill adults and bone mineral content (BMC) in children with CF.
METHODS—We analysed data from 28 adults and 13 children with CF. Corticosteroid use was minimal for the year prior to study in both groups. Dual x ray absorptiometry was used to measure total body and regional bone mineral density in adults. In children, whole body BMC was...

  5. Benign Cystic Mesothelioma Misdiagnosed as Peritoneal Carcinomatosis

    Science.gov (United States)

    Shin, Hyun Deok; Kim, Suk Bae

    2016-01-01

    Benign cystic mesothelioma (BCM) is a rare benign disease that forms multicystic masses in the abdomen, pelvis, and retroperitoneum. It occurs predominantly in young to middle-aged women. The majority of cases were associated with a history of abdominal or pelvic operation, a history of endometriosis, and pelvic inflammatory disease. We present a unique case of BCM which is different to the previous cases. The patient was a 52-year-old man showing features of peritoneal carcinomatosis accompanied by ascites on abdominal computed tomography scans. We herein report a case of BCM misdiagnosed with peritoneal carcinomatosis. PMID:27403112

  6. Benign Cystic Mesothelioma Misdiagnosed as Peritoneal Carcinomatosis

    Directory of Open Access Journals (Sweden)

    Hyun Deok Shin

    2016-04-01

    Full Text Available Benign cystic mesothelioma (BCM is a rare benign disease that forms multicystic masses in the abdomen, pelvis, and retroperitoneum. It occurs predominantly in young to middle-aged women. The majority of cases were associated with a history of abdominal or pelvic operation, a history of endometriosis, and pelvic inflammatory disease. We present a unique case of BCM which is different to the previous cases. The patient was a 52-year-old man showing features of peritoneal carcinomatosis accompanied by ascites on abdominal computed tomography scans. We herein report a case of BCM misdiagnosed with peritoneal carcinomatosis.

  7. Vitamin K supplementation for cystic fibrosis.

    Science.gov (United States)

    Jagannath, Vanitha A; Thaker, Vidhu; Chang, Anne B; Price, Amy I

    2017-08-22

    Cystic fibrosis is a genetic disorder which can lead to multiorgan dysfunction. Malabsorption of fat and fat-soluble vitamins (A, D, E, K) may occur and can cause subclinical deficiencies of some of these vitamins. Vitamin K is known to play an important role in both blood coagulation and bone formation. Supplementation with vitamin K appears to be one way of addressing the deficiency, but there is very limited agreement on the appropriate dose and frequency of use of these supplements. This is an updated version of the review. To assess the effects of vitamin K supplementation in people with cystic fibrosis and to determine the optimal dose and route of administration of vitamin K for both routine and therapeutic use. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Most recent search: 30 January 2017. Randomised and quasi-randomised controlled trials of all preparations of vitamin K used as a supplement compared to either no supplementation (or placebo) at any dose or route and for any duration, in children or adults diagnosed with cystic fibrosis (by sweat test or genetic testing). Two authors independently screened papers, extracted trial details and assessed their risk of bias. Two trials (total of 32 participants) each lasting one month were included in the review and were assessed as having a moderate risk of bias. One was a dose-ranging parallel group trial in children (aged 8 to 18 years); and the other (with an older cohort) had a cross-over design comparing supplements to no treatment, but no separate data were reported for the first intervention period. Neither of the trials addressed any of the primary outcomes (coagulation, bone formation and quality of life). Both trials reported the restoration of serum vitamin K and undercarboxylated osteocalcin

  8. CYSTIC FIBROSIS: MICROBIOLOGY AND HOST RESPONSE

    Science.gov (United States)

    Zemanick, Edith T.

    2016-01-01

    THE EARLIEST DESCRIPTIONS OF LUNG DISEASE IN PEOPLE WITH CYSTIC FIBROSIS (CF) DEMONSTRATED THE INVOLVEMENT OF THREE INTERACTING PATHOPHYSIOLOGICAL ELEMENTS IN CF AIRWAYS: MUCUS OBSTRUCTION, INFLAMMATION, AND INFECTION. OVER THE PAST 7 DECADES, OUR UNDERSTANDING OF CF RESPIRATORY MICROBIOLOGY AND INFLAMMATION HAS EVOLVED WITH THE INTRODUCTION OF NEW TREATMENTS, WITH INCREASED LONGEVITY, AND WITH INCREASINGLY SOPHISTICATED LABORATORY TECHNIQUES. IN THIS CHAPTER, WE WILL REVIEW THE CURRENT STATE OF UNDERSTANDING OF THE ROLES OF INFECTION AND INFLAMMATION AND THEIR ROLES IN DRIVING LUNG DISEASE. WE WILL ALSO DISCUSS HOW THIS CONSTANTLY EVOLVING INFORMATION IS USED TO INFORM CURRENT THERAPEUTIC STRATEGIES, MEASURES AND PREDICTORS OF DISEASE SEVERITY, AND RESEARCH PRIORITIES. PMID:27469179

  9. "Cystic fibrotics could survive cholera, choleraics could survive cystic fibrosis"; hypothesis that explores new horizons in treatment of cystic fibrosis.

    Science.gov (United States)

    Azimi, Arsalan

    2015-12-01

    Cystic fibrosis, the most common inherited disease of white population, is a disease of CFTR channels, in which mucosal function of many organs especially respiratory tract is impaired. Decreased mucociliary clearance and accumulation of mucus in airways facilitates colonization of infectious microorganisms, followed by infection. Following chronic infection, persistent inflammation ensues, which results in airway remodeling and deterioration of mucociliary clearance and result in a vicious cycle. Here, it is hypothesized that cholera toxin (CT) could ameliorate symptoms of cystic fibrosis as CT could dilute the thickened mucus, improve mucociliary clearance and alleviate airway obstruction. CT strengthens immunity of airway mucosa and it could attenuates bacterial growth and reduce persistency of infection. CT also modulates cellular immune response and it could decrease airway inflammation, hinder airway remodeling and prevent respiratory deterioration. Thereby it is hypothesized that CT could target and ameliorate many of pathophysiologic steps of the disease and it explores new horizons in treatment of CF. Copyright © 2015 Elsevier Ltd. All rights reserved.

  10. Cystic fibrosis transmembrane conductance regulator (CFTR allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Serena Schippa

    Full Text Available INTRODUCTION: In this study we investigated the effects of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR gene variants on the composition of faecal microbiota, in patients affected by Cystic Fibrosis (CF. CFTR mutations (F508del is the most common lead to a decreased secretion of chloride/water, and to mucus sticky secretions, in pancreas, respiratory and gastrointestinal tracts. Intestinal manifestations are underestimated in CF, leading to ileum meconium at birth, or small bowel bacterial overgrowth in adult age. METHODS: Thirty-six CF patients, fasting and under no-antibiotic treatment, were CFTR genotyped on both alleles. Faecal samples were subjected to molecular microbial profiling through Temporal Temperature Gradient Electrophoresis and species-specific PCR. Ecological parameters and multivariate algorithms were employed to find out if CFTR variants could be related to the microbiota structure. RESULTS: Patients were classified by two different criteria: 1 presence/absence of F508del mutation; 2 disease severity in heterozygous and homozygous F508del patients. We found that homozygous-F508del and severe CF patients exhibited an enhanced dysbiotic faecal microbiota composition, even within the CF cohort itself, with higher biodiversity and evenness. We also found, by species-specific PCR, that potentially harmful species (Escherichia coli and Eubacterium biforme were abundant in homozygous-F508del and severe CF patients, while beneficial species (Faecalibacterium prausnitzii, Bifidobacterium spp., and Eubacterium limosum were reduced. CONCLUSIONS: This is the first report that establishes a link among CFTR variants and shifts in faecal microbiota, opening the way to studies that perceive CF as a 'systemic disease', linking the lung and the gut in a joined axis.

  11. So-called "papillary and cystic neoplasm of the pancreas." An immunohistochemical and ultrastructural study.

    Science.gov (United States)

    Kamisawa, T; Fukayama, M; Koike, M; Tabata, I; Okamoto, A

    1987-05-01

    A case of so-called "papillary and cystic neoplasm of the pancreas" (PCNP) was reported and investigated immunohistochemically and ultrastructurally. A tumor of the pancreatic head in a 21-year-old female was curatively resected. The tumor was cystic and histologically consisted of uniform cells in papillary and solid structure. Although there was no immunoreactivity for pancreaticogut hormones or secretory products of the pancreas in the tumor cells, most of the tumor cells were diffusely immunoreactive for neuron-specific enolase (NSE). Some neurosecretory granules were detected in the tumor cells ultrastructurally. Both facts suggested endocrine cell character of the tumor. Certain cases of PCNP might show a differentiation to endocrine cells.

  12. Optical coherence tomography identifies lower labial salivary gland surface density in cystic fibrosis.

    Directory of Open Access Journals (Sweden)

    Jan K Nowak

    Full Text Available The labial minor salivary glands (LSGs are easily accessible mucus-secreting structures of the alimentary tract that may provide new information on the basis of gastrointestinal complications of cystic fibrosis (CF. It was shown that they are destructed in the course of cystic fibrosis. We employed wide-field, micrometer resolution in vivo optical coherence tomography to assess the surface density of LSGs in 18 patients with CF and 18 healthy subjects. The median LSGs' surface densities in CF patients, and in the control group were 4.32 glands/cm2 and 6.58 glands/cm2, respectively (p = 0.006; Mann-Whitney U test. A lower LSG surface density is a previously unrecognized CF-related pathology of the alimentary tract.

  13. Cystic Endometrioma with Coexisting Fibroma Originating in a Supernumerary Ovary in the Rectovaginal Pouch

    Science.gov (United States)

    Sakaguchi, Asumi; Kodama, Hiroko; Ogura, Kanako; Miwa, Ayako; Sugimori, Yayoi; Matuoka, Shozo; Matsumoto, Toshiharu

    2017-01-01

    A supernumerary ovary is an exceedingly rare disorder, in which the structure containing ovarian tissue is located at some distance from the normally placed ovary. 16 cases of endometriosis or tumors originating in a supernumerary ovary have been published in the English literature, but no case of coexisting endometriosis and a tumor has been published. We present the case of a 40-year-old female with cystic endometrioma with coexisting fibroma originating in a supernumerary ovary in the rectovaginal pouch. The present case is the first to be reported with coexisting endometriosis and a tumor originating in a supernumerary ovary. Our experience with this case and the results of our previous studies of rectovaginal endometriosis indicated that the possibility of originating in a supernumerary ovary shall be examined in cases of cystic endometrioma in the rectovaginal pouch. PMID:28210515

  14. Radiographic features of large cystic lesions of the jaws in children

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    Bodner, Lipa; Woldenberg, Yitzhak [Department of Oral and Maxillofacial Surgery, Soroka Medical Center, P.O. Box 151, Beer-Sheva 84101 (Israel); Bar-Ziv, Jacob [Department of Radiology, Hebrew University and Hadassab School of Medicine, Jerusalem (Israel)

    2003-01-01

    The surgical approach to cystic lesions of the jaws is either marsupialisation or enucleation. The treatment of choice is dependent on the size of the lesion, the bony integrity of the cyst and its proximity to anatomical structures.Objectives. To assess large (>2.0 cm) cystic lesions of the jaws using plain film radiography (PFR), CT, multiplanar reconstruction program (MPR) and three-dimensional CT (3D-CT).Patients and methods. Twelve children aged 7-14 years.Results. The classic radiological feature was a unilocular radiolucent area surrounded by a well-defined radio-opaque margin adjacent to the root of a non-viable tooth or associated with the crown of an unerupted tooth. Malposition of teeth and root resorption were more common in dentigerous cysts. The features seen on CT were clear and more precise than those seen on PFR. MPR, by the three-dimensional visualisation of the jaw (axial, panoramic, and bucco-lingual), provided useful information for determining the outline of the cyst and its proximity to adjacent anatomical structures, such as teeth, nerves or maxillary sinus. 3-D CT further and more clearly demonstrated discontinuity in the buccal or palatal/lingual cortices of the jaw bone. PFR was very accurate in determining root resorption.Conclusions. CT with MPR and, ideally, 3-D CT should be used for the comprehensive diagnostic work-up and meticulous surgical management of large cystic lesions of the jaws in children. (orig.)

  15. IMAGING EVALUATION OF SEROUS CYSTADENOMAS AND MUCINOUS CYSTIC TUMORS OF THE PANCREAS

    Institute of Scientific and Technical Information of China (English)

    Manavendra Upadhyaya; LIU Yu; CHEN Ke-min

    2009-01-01

    Objective To evaluate imaging features of the serous cystadenomas and mucinous cystic tumors of the pancreas.Methods The imaging findings in 59 patients with pathologically proven serous cystadenomas (SCs), mucinous cystadenomas (MCs), and mucinous cystadenocarcinomas (MCCs) of the pancreas were reviewed for location, thickness of septa or the cyst wall, number of cysts, diameter of the largest cyst, lesion calcification, presence of mural node or solid enhancing component, dilatation of the main pancreatic duct (MPD), lesion communication with MPD, invasion of surrounding organs, and regional lymphadenopathy.Results The characteristic imaging feature of SCs was that of microcystic lesion with >6 cysts, the diameter of the largest cyst being <2cm. Mucinous cystic tumors (MCTs) including MCs and MCCs were that of macrocystic lesion with <6 cysts, the diameter of the largest cyst being >2 cm. MCs was that of a lesion with smooth and regular cyst wall and septa, the wall/septa thickness being <0.3 cm. MCCs was that of a cystic lesion with thick irregular septa, presence of mural node or solid enhancing component, invasion of surrounding structures. These findings were of statistical significance.Conclusion SCs, MCs, and MCCs have characteristic imaging features. Analysis of the number of cysts, septation features, mural node or solid enhancing component, diameter of the largest cyst, dilatation of the pancreatic duct, and invasion of surrounding structures often can successfully subtype tumors into benign SCs or potentially malignant MCs or malignant MCCs.

  16. Purely cystic adrenal lesion in a newborn evolving into a solid neuroblastoma.

    Science.gov (United States)

    Gali, Shapira; Anat, Ilivitzki

    2015-02-01

    Purely cystic neuroblatomas are often discovered prenatally. As the main differential diagnosis is adrenal hemorrhage, follow-up sonography is warranted after birth. Cystic neuroblastomas are expected to evolve into lesions of mixed echogenicity with cystic and solid components. We present a rare case of a purely cystic left-sided adrenal lesion in a newborn, suggesting an adrenal hemorrhage, which on follow-up sonography evolved into a purely solid mass with poor vascularization, diagnosed as a cystic neuroblastoma. We suggest that even purely cystic adrenal masses in the newborn should be closely followed up with sonography, as they may represent purely cystic neuroblastomas. © 2015 Wiley Periodicals, Inc.

  17. Cystic echinococcosis in Greece. Past and present*

    Directory of Open Access Journals (Sweden)

    Sotiraki S.

    2010-09-01

    Full Text Available Cystic echinococcosis is a zoonotic disease with a wide geographical distribution, Greece included, and is considered to be a serious problem for the public health and the livestock economy. Although the disease was widespread in Greece since ancient times, cystic echinococcosis was identified as a serious problem around 1970, and since then national surveillance programmes are running, based on meat inspection and stray dogs management. Ever since, there are official records of the parasite’s prevalence in humans and livestock which show a continuous decline. More precisely, human hydatidosis, according to the official records, declines from an annual incidence of 14.8 per 100,000 inhabitants during 1967-1971 to 0.3 in 2008. Late surveys reveal that in Greece the prevalence of echinococcosis was 23-39.2 % for sheep, 7.6-14.7 % for goats, 0 % in cattle and 0.6 % in pigs, while further molecular analyses in Southern Greece showed the existence of the genotypes G1 and G3 in sheep and G7 in goats in that area. All data presented demonstrate that the parasite is still present in Greece. Surveillance is nowadays being performed under EU regulations but it is highly important to improve and adopt corrective and preventive measures to avoid animal and human infection.

  18. Cystic fibrosis mortality trends in France.

    Science.gov (United States)

    Bellis, Gil; Cazes, Marie-Hélène; Parant, Alain; Gaimard, Maryse; Travers, Cécile; Le Roux, Evelyne; Ravilly, Sophie; Rault, Gilles

    2007-05-01

    In 1992 France set up a national cystic fibrosis observatory (Observatoire national de la mucoviscidose, ONM) to monitor the state of health of patients on an annual basis. Using the ONM data, this study estimates the main indicators for life expectancy and assesses the total number of cystic fibrosis patients. The data for the years 1994 to 2003 are divided into 3-year periods. Life tables are drawn up for these periods, from which mean and median lengths of life are determined. Using the most recent life table, the number of births in 2003 and the incidence of the disease, the total population of patients can be estimated, assuming a stationary population. In 2001-2003, life expectancy at birth of patients registered with the ONM was 39.1 years and median length of life was 36.4 years. These results, substantially better than those of 1994-1996, are linked to improved conditions of patient inclusion in the ONM database, to improvements in their healthcare, but also to the limitations of the life tables. Based on the 2003 data, the total theoretical number of patients is 6490, and coverage by the ONM database is thus 63.2%. These provisional results demonstrate the need to convert the ONM observatory into a registry providing exhaustive coverage of all patients.

  19. Magnetic resonance imaging of cystic periventricular leukomalacia

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    Kadoi, Nobuaki; Nomura, Junko; Nowatari, Masahiko; Ohta, Takeo; Kamohara, Takashi; Yashiro, Kimio (Kitasato Univ., Sagamihara, Kanagawa (Japan). School of Medicine)

    1990-08-01

    A study was performed to assess the values of magnetic resonance (MR) imaging in evaluation and the follow up of patients with cystic periventricular leukomalacia. Ten patients selected for MR imaging were diagnosed as having periventricular cystic lesions based on US scans. The range of gestational ages was 27 to 32 weeks, and the range of birth weights was 927 to 2,046 g. Twenty MR examinations were carried out using a 0.5 T superconducting system (Resona; Yokogawa). On the first MR examinations, taken by 6 months of age, low signal intensity lesions within the periventricular white matter, moderate ventriculomegaly with irregularity of the ventricular wall and delayed myelination were observed. These were the MR findings observed in the subacute stage of PVL. On the second or the third MR examinations, taken after 12 months of age, increased signal intensity in periventricular white matter on T{sub 2} weighted images decreased volume of periventricular white matter and centrum semiovale and the ventriculomagaly with irregularity of ventricular wall were observed. However, progressions of myelination were proved to be not delayed in comparison with age matched controls. These were thought to be the MR findings of late stage of PVL. As the US findings of PVL have good correlation with pathologic changes revealed at autopsy, MR imaging can depict myelination and detect PVL lesion beyond the neonatal period. These observations demonstrate the value of the MR imaging for the follow up of the patients with PVL beyond the time of fontanel closure. (author).

  20. CFTR protein repair therapy in cystic fibrosis.

    Science.gov (United States)

    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.

  1. Targeting ion channels in cystic fibrosis.

    Science.gov (United States)

    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.

  2. Imaging the Abdominal Manifestations of Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    C. D. Gillespie

    2017-01-01

    Full Text Available Cystic fibrosis (CF is a multisystem disease with a range of abdominal manifestations including those involving the liver, pancreas, and kidneys. Recent advances in management of the respiratory complications of the disease has led to a greater life expectancy in patients with CF. Subsequently, there is increasing focus on the impact of abdominal disease on quality of life and survival. Liver cirrhosis is the most important extrapulmonary cause of death in CF, yet significant challenges remain in the diagnosis of CF related liver disease. The capacity to predict those patients at risk of developing cirrhosis remains a significant challenge. We review representative abdominal imaging findings in patients with CF selected from the records of two academic health centres, with a view to increasing familiarity with the abdominal manifestations of the disease. We review their presentation and expected imaging findings, with a focus on the challenges facing diagnosis of the hepatic manifestations of the disease. An increased familiarity with these abdominal manifestations will facilitate timely diagnosis and management, which is paramount to further improving outcomes for patients with cystic fibrosis.

  3. [Vitamin E deficiency in cystic fibrosis].

    Science.gov (United States)

    Muñoz, C; Polanco, I; Hernanz, A; Carrasco, S; Barea, I; Murga, M L; Arroba, M L; Codoceo, R

    1987-12-01

    Plasma vitamin E levels were measured by high performance liquid chromatography in 42 children with cystic fibrosis and were correlated with the following parameters: sex, age, time of follow-up, clinical evolution (Schwachman score), vitamin E/cholesterol and faecal fat excretion. All children in this study received oral alfa-tocoferol (50-100 mg daily) from the diagnosis. According to the vitamin E level patients were distributed in two groups. Group I: 27 patients (64.3%) with normal concentrations. Group II: 15 patients (35.7%) with decreases plasma levels but without clinical manifestations. Steatorrhea was present in all children except 4 patients from group I and one patient from group II. On the other hand, vitamin E/cholesterol was normal in 80% of patients with vitamin E deficiency (group II). We did not find any correlation between plasma vitamin E levels and the different clinical and biological parameters studied. Further studies should be carried out to throw more light on the mechanism underlying the pathogenesis of vitamin E deficiency in patients with cystic fibrosis.

  4. Cystic lung disease: Achieving a radiologic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Trotman-Dickenson, Beatrice, E-mail: btrotmandickenson@partners.org

    2014-01-15

    Diffuse cystic lung disease represents a diverse group of uncommon disorders with characteristic appearance on high resolution CT imaging. The combination of imaging appearance with clinical features and genetic testing where appropriate permits a confident and accurate diagnosis in the majority of the diseases without recourse for open lung biopsy. The mechanism of cyst development disease is unclear but in some disorders appears to be related to small airways obstruction. These diseases are incurable, with the exception of Langerhans cell histiocytosis which may spontaneously remit or resolve on smoking cessation. Disease progression is unpredictable; in general older patients have a more benign disease, while young patients may progress rapidly to respiratory failure. An understanding of the complications of cystic lung disease and the appearance of disease progression is essential for the management of these patients. A number of these disorders are associated with malignancy, recognition of the potential tumors permits appropriate imaging surveillance. Due to the widespread use of CT, pulmonary cysts are increasingly discovered incidentally in an asymptomatic individual. The diagnostic challenge is to determine whether these cysts represent an early feature of a progressive disease or have no clinical significance. In the elderly population the cysts are unlikely to represent a progressive disease. In individuals <50 years further evaluation is recommended.

  5. Cystic peritoneal mesothelioma: report of a case.

    Science.gov (United States)

    Cavallaro, Andrea; Berretta, Massimiliano; Lo Menzo, Emanuele; Cavallaro, Vincenzo; Zanghì, Antonio; Di Vita, Maria; Cappellani, Alessandro

    2011-01-01

    Benign multicystic peritoneal mesothelioma (BMPM) is a rare disease with good short-term prognosis and rare malignant transformation. However, its biological significance remains unexplained. A neoplastic origin is considered by many authors to require a surgical excision, based on the high recurrence and progressive growth rate of the tumors. However, alternative or integrative treatment options have also been proposed. A 45-year-old woman presented to our unit with a history of occasional discomfort and pain in the left hip. On physical examination, we noticed a tough-elastic, fixed mass located in the iliac fossa. Computed tomography scan detected a mass with multiseptated cystic-like areas. Due to the similarity of these findings to a primitive sarcomatous tumor of the retroperitoneum, an arteriographic study was also performed. The patient underwent en bloc resection of the mass, including a segment of the sigmoid colon. The final pathologic diagnosis was cystic mesothelioma. Further studies are needed to better understand the etiology and pathogenesis of this rare disease, and to define a more tailored treatment plan.

  6. Cystic Fibrosis and the Nervous System.

    Science.gov (United States)

    Reznikov, Leah R

    2017-05-01

    Cystic fibrosis (CF) is a life-shortening autosomal recessive disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is an anion channel that conducts bicarbonate and chloride across cell membranes. Although defective anion transport across epithelial cells is accepted as the basic defect in CF, many of the features observed in people with CF and organs affected by CF are modulated by the nervous system. This is of interest because CFTR expression has been reported in both the peripheral and central nervous systems, and it is well known that the transport of anions, such as chloride, greatly modulates neuronal excitability. Thus it is predicted that in CF, lack of CFTR in the nervous system affects neuronal function. Consistent with this prediction, several nervous system abnormalities and nervous system disorders have been described in people with CF and in animal models of CF. The goal of this special feature article is to highlight the expression and function of CFTR in the nervous system. Special emphasis is placed on nervous system abnormalities described in people with CF and in animal models of CF. Finally, features of CF that may be modulated by or attributed to faulty nervous system function are discussed. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  7. Global impact of bronchiectasis and cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Margarida Redondo

    2016-09-01

    To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems.; Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections. It can be caused by a range of inherited and acquired disorders, or may be idiopathic in nature. The most well recognised inherited disorder in Western countries is cystic fibrosis (CF, an autosomal recessive condition that leads to progressive bronchiectasis, bacterial infection and premature mortality. Both bronchiectasis due to CF and bronchiectasis due to other conditions are placing an increasing burden on healthcare systems internationally. Treatments for CF are becoming more effective leading to more adult patients with complex healthcare needs. Bronchiectasis not due to CF is becoming increasingly recognised, particularly in the elderly population. Recognition is important and can lead to identification of the underlying cause, appropriate treatment and improved quality of life. The disease is highly diverse in its presentation, requiring all respiratory physicians to have knowledge of the different “bronchiectasis syndromes”. The most common aetiologies and presenting syndromes vary depending on geography, with nontuberculous mycobacterial disease predominating in some parts of North America, post-infectious and idiopathic disease predominating in Western Europe, and post-tuberculosis bronchiectasis dominating in South Asia and Eastern Europe. Ongoing global collaborative studies will greatly advance our understanding of the international impact of bronchiectasis and CF.

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

    Science.gov (United States)

    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 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 similar to those used in other pathologies. Dietary and nutritional control should be included in a multidisciplinary program allowing the improvement of the functional capacity and the quality of life and reducing, at least from a theoretical viewpoint, the morbimortality associated to malnourishment in these patients.

  9. [Cystic tumors of the pancreas: diagnosis, management and results].

    Science.gov (United States)

    Alfieri, Sergio; Pericoli Ridolfini, Marco; Bassi, Claudio; Gourgiotis, Stavros; Caprino, Paola; Pederzoli, Paolo; Sofo, Luigi; Doglietto, Giovanni Battista

    2008-01-01

    Pancreatic cystic tumours are rare and less frequent than other pancreatic tumours. In recent decades, these tumours are being diagnosed with increasing frequency due to the extensive availability of, and improvement in, modern imaging techniques and it is often possible not only to differentiate them preoperatively from other cystic pancreatic disorders but also from one another. Pancreatic cystic tumours comprise a variety of neoplasms with a wide range of malignant potential: serous cystic tumours are benign, whereas mucinous cystic tumours, and intraductal papillary mucinous tumours are considered premalignant, while solid pseudopapillary tumours have a non-aggressive behaviour in the vast majority of cases. Most patients have no symptoms; and when clinical signs are present, they never help us to identify the type of pathology. Serous cystic neoplasms usually do not mandate resection unless the lesion is symptomatic. Mucinous cystic neoplasms and intraductal papillary mucinous neoplasms have a premalignant or malignant tendency, and therefore need to be managed aggressively by pancreatic resection. Their prognosis is excellent in the absence of invasive disease, but the presence of invasive malignancy is associated with a poor prognosis. This review addresses the symptoms, diagnosis, management and prognosis of this group of tumours.

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

    Institute of Scientific and Technical Information of China (English)

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

    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 usualy 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 initialy 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. Additionaly, percutaneous drainage of a pancreatic pseudocyst is a useful adjunct that may substitute for surgical drainage.

  11. Enteral tube feeding for individuals with cystic fibrosis: Cystic Fibrosis Foundation evidence-informed guidelines.

    Science.gov (United States)

    Schwarzenberg, Sarah Jane; Hempstead, Sarah E; McDonald, Catherine M; Powers, Scott W; Wooldridge, Jamie; Blair, Shaina; Freedman, Steven; Harrington, Elaine; Murphy, Peter J; Palmer, Lena; Schrader, Amy E; Shiel, Kyle; Sullivan, Jillian; Wallentine, Melissa; Marshall, Bruce C; Leonard, Amanda Radmer

    2016-11-01

    Nutrition is integral to the care of individuals with cystic fibrosis (CF). Better nutritional status is associated with improved pulmonary function. In some individuals with CF, enteral tube feeding can be useful in achieving optimal nutritional status. Current nutrition guidelines do not include detailed recommendations for enteral tube feeding. The Cystic Fibrosis Foundation convened an expert panel to develop enteral tube feeding recommendations based on a systematic review of the evidence and expert opinion. These guidelines address when to consider enteral tube feeding, assessment of confounding causes of poor nutrition in CF, preparation of the patient for placement of the enteral feeding tube, management of the tube after placement and education about enteral feeding. These recommendations are intended to guide the CF care team, individuals with CF, and their families through the enteral tube feeding process.

  12. Sclerotherapy for Benign Cystic Diseases in the Neck

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    Kim, Ji Hoon; Sohn, Chul Ho; Choi, Seung Hong; Yun, Tae Jin [Dept. of Radiology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2012-08-15

    Surgery has been the classic treatment of choice for benign cystic diseases, including lymphatic malformation, ranula, branchial cleft cyst, thyroglossal duct cyst, thyroid cyst, parathyroid cyst, and lymphocele. However, surgery is associated with a tendency toward recurrence and may be accompanied by various complications, such as nerve injuries, vascular injuries, and scar formation. Therefore, sclerotherapy using various agents has been applied successfully to treatment of benign cystic diseases in the neck. This editorial reviews the use of various sclerotic agents and application of sclerotherapy to benign cystic diseases in the neck.

  13. Flow in Idealised Compliant Human Cystic Duct Models

    Science.gov (United States)

    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.

  14. [A case of cystic pheochromocytoma mimicking liver abscess].

    Science.gov (United States)

    Toyoshima, Yuta; Hosokawa, Yukinari; Takada, Satoshi; Hayashi, Yoshiki; Fujimoto, Kiyohide; Hirao, Yoshihiko

    2011-07-01

    A 64-year-old man presented to our hospital feeling ill with epigastralgia. Computed tomography (CT) showed right suprarenal cystic tumor. High urinary catecholamine level was noted. Based on metaiodobenzylguanidine (MIBG) scintigraphy, magnetic resonance imaging and blood tests, preoperative diagnosis was adrenal pheochromocytoma. En-bloc resection of the tumor and the right kidney was performed. The cyst contained yellowish serous fluid, which had a catecholamine level about 3,000 times that in the blood. The histological diagnosis was cystic pheochromocytoma. Pathogenesis of cystic adrenal tumor is discussed briefly.

  15. Early bronchiectasis in cystic fibrosis detected by surveillance CT.

    Science.gov (United States)

    Pillarisetti, Naveen; Linnane, Barry; Ranganathan, Sarath

    2010-08-01

    There is emerging evidence that cystic fibrosis lung disease begins early in infancy. Newborn screening allows early detection and surveillance of pulmonary disease and the possibility of early intervention in this life-shortening condition. We report two children with cystic fibrosis who underwent a comprehensive assessment from diagnosis that included measurement of lung function, limited-slice high-resolution CT and BAL performed annually. Early aggressive surveillance enabled significant lung disease and bronchiectasis to be detected during the first few years of life and led to a change in management, highlighting a clinical role for CT scanning during the preschool years in children with cystic fibrosis.

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

    Science.gov (United States)

    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.

  17. Non-invasive ventilation for cystic fibrosis.

    Science.gov (United States)

    Moran, Fidelma; Bradley, Judy M; Piper, Amanda J

    2017-02-20

    Non-invasive ventilation may be a means to temporarily reverse or slow the progression of respiratory failure in cystic fibrosis by providing ventilatory support and avoiding tracheal intubation. Using non-invasive ventilation, in the appropriate situation or individuals, can improve lung mechanics through increasing airflow and gas exchange and decreasing the work of breathing. Non-invasive ventilation thus acts as an external respiratory muscle. This is an update of a previously published review. To compare the effect of non-invasive ventilation versus no non-invasive ventilation in people with cystic fibrosis for airway clearance, during sleep and during exercise. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from comprehensive electronic database searches, handsearching relevant journals and abstract books of conference proceedings. We searched the reference lists of each trial for additional publications possibly containing other trials.Most recent search: 08 August 2016. Randomised controlled trials comparing a form of pressure preset or volume preset non-invasive ventilation to no non-invasive ventilation used for airway clearance or during sleep or exercise in people with acute or chronic respiratory failure in cystic fibrosis. Three reviewers independently assessed trials for inclusion criteria and methodological quality, and extracted data. Ten trials met the inclusion criteria with a total of 191 participants. Seven trials evaluated single treatment sessions, one evaluated a two-week intervention, one evaluated a six-week intervention and one a three-month intervention. It is only possible to blind trials of airway clearance and overnight ventilatory support to the outcome assessors. In most of the trials we judged there was an unclear risk of bias with regards to blinding due to inadequate descriptions. The six-week trial was the only one judged to have a low risk of bias for all

  18. European Cystic Fibrosis Society Standards of Care: Quality Management in cystic fibrosis.

    Science.gov (United States)

    Stern, Martin; Bertrand, Dominique Pougheon; Bignamini, Elisabetta; Corey, Mary; Dembski, Birgit; Goss, Christopher H; Pressler, Tanja; Rault, Gilles; Viviani, Laura; Elborn, J Stuart; Castellani, Carlo

    2014-05-01

    Since the earliest days of cystic fibrosis (CF) treatment, patient data have been recorded and reviewed in order to identify the factors that lead to more favourable outcomes. Large data repositories, such as the US Cystic Fibrosis Registry, which was established in the 1960s, enabled successful treatments and patient outcomes to be recognized and improvement programmes to be implemented in specialist CF centres. Over the past decades, the greater volumes of data becoming available through Centre databases and patient registries led to the possibility of making comparisons between different therapies, approaches to care and indeed data recording. The quality of care for individuals with CF has become a focus at several levels: patient, centre, regional, national and international. This paper reviews the quality management and improvement issues at each of these levels with particular reference to indicators of health, the role of CF Centres, regional networks, national health policy, and international data registration and comparisons. Copyright © 2014 European Cystic Fibrosis Society. All rights reserved.

  19. Folliculosebaceous Cystic Hamartoma With Spindle Cell Lipoma-Like Stromal Features.

    Science.gov (United States)

    Nguyen, Catherine M; Skupsky, Hadas; Cassarino, David

    2015-12-01

    Folliculosebaceous cystic hamartoma is a distinctive cutaneous hamartoma composed of follicular, sebaceous, and mesenchymal components. The lesions are most commonly found on the face and scalp of young adults, with approximately 30% occurring in the nasal or paranasal regions of the face. The clinical differential diagnoses are extensive and include epidermoid cyst, dermal nevus, soft fibroma, and adnexal tumors including sebaceous neoplasms. Here, the authors present a case of a 24-year-old man who presented for evaluation of an asymptomatic growth on the nose, which had slowly enlarged over 9 years. On examination, there was a 0.6 cm dome-shaped flesh-colored papule on the nasal bridge. The clinical differential included dermatofibroma versus intradermal nevus. A shave biopsy was performed, and histological examination of the sections showed a proliferation of multiple enlarged and irregular-appearing sebaceous glands attached to a cystic follicular structure. The associated dermal mesenchymal component consisted of numerous mature-appearing adipocytes associated with a fibromyxoid stroma, prominent collections of mucin, and bundles of ropey collagen resembling a spindle cell lipoma. This combination of a folliculosebaceous cystic hamartoma with a spindle cell lipoma-like mesenchymal proliferation is unusual and has not been previously reported.

  20. Folliculosebaceous Cystic Hamartoma With Spindle Cell Lipoma-Like Stromal Features

    Science.gov (United States)

    Skupsky, Hadas; Cassarino, David

    2015-01-01

    Abstract: Folliculosebaceous cystic hamartoma is a distinctive cutaneous hamartoma composed of follicular, sebaceous, and mesenchymal components. The lesions are most commonly found on the face and scalp of young adults, with approximately 30% occurring in the nasal or paranasal regions of the face. The clinical differential diagnoses are extensive and include epidermoid cyst, dermal nevus, soft fibroma, and adnexal tumors including sebaceous neoplasms. Here, the authors present a case of a 24-year-old man who presented for evaluation of an asymptomatic growth on the nose, which had slowly enlarged over 9 years. On examination, there was a 0.6 cm dome-shaped flesh-colored papule on the nasal bridge. The clinical differential included dermatofibroma versus intradermal nevus. A shave biopsy was performed, and histological examination of the sections showed a proliferation of multiple enlarged and irregular-appearing sebaceous glands attached to a cystic follicular structure. The associated dermal mesenchymal component consisted of numerous mature-appearing adipocytes associated with a fibromyxoid stroma, prominent collections of mucin, and bundles of ropey collagen resembling a spindle cell lipoma. This combination of a folliculosebaceous cystic hamartoma with a spindle cell lipoma-like mesenchymal proliferation is unusual and has not been previously reported. PMID:26588344

  1. Impaired Cell Volume Regulation in Intestinal Crypt Epithelia of Cystic Fibrosis Mice

    Science.gov (United States)

    Valverde, M. A.; O'Brien, J. A.; Sepulveda, F. V.; Ratcliff, R. A.; Evans, M. J.; Colledge, W. H.

    1995-09-01

    Cystic fibrosis is a disease characterized by abnormalities in the epithelia of the lungs, intestine, salivary and sweat glands, liver, and reproductive systems, often as a result of inadequate hydration of their secretions. The primary defect in cystic fibrosis is the altered activity of a cAMP-activated Cl^- channel, the cystic fibrosis transmembrane conductance regulator (CFTR) channel. However, it is not clear how a defect in the CFTR Cl^- channel function leads to the observed pathological changes. Although much is known about the structural properties and regulation of the CFTR, little is known of its relationship to cellular functions other than the cAMP-dependent Cl^- secretion. Here we report that cell volume regulation after hypotonic challenge is also defective in intestinal crypt epithelial cells isolated from CFTR -/- mutant mice. Moreover, the impairment of the regulatory volume decrease in CFTR -/- crypts appears to be related to the inability of a K^+ conductance to provide a pathway for the exit of this cation during the volume adjustments. This provides evidence that the lack of CFTR protein may have additional consequences for the cellular function other than the abnormal cAMP-mediated Cl^- secretion.

  2. Ruptured Cystic Mesothelioma Diagnosed after Blunt Trauma; Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Francisco Igor B. Macedo

    2016-10-01

    Full Text Available The majority of blunt trauma is secondary to motor vehicle crashes,especially in those wearing seatbelts or sitting in the front or passenger seat location.Hollow viscus gastrointestinal injuries occur more frequently in small bowel, followed by colorectal, duodenum, stomach and appendix. A 25-year-old male presents after being involved in a motor vehicle accident. Initialworkup was significant for moderate amount of pelvic free fluid and curvilinear,cystic­like structures in the pelvis. He subsequently developed peritonitis and underwentdiagnostic laparoscopy, which revealed multiple cystic nodules arising from theperitoneum. Pathology demonstrated benign cystic mesothelioma (BCM. BCM is a very rarecondition of mesothelial­lined, variably sized, fluid­filled cysts that arises from theserous, pericardial or peritoneal lining. Due to the scarcity of cases, its management and prognosis are not fully established. This singular case highlights the necessity for a clinician to have a widedifferential forunusual causes of free pelvic fluid after blunt abdominaltrauma.

  3. Intraductal Oncocytic Papillary Neoplasm Having Clinical Characteristics of Mucinous Cystic Neoplasm and a Benign Histology

    Directory of Open Access Journals (Sweden)

    Takatomi Oku

    2007-03-01

    Full Text Available Context An intraductal oncocytic papillary neoplasm is a rare pancreatic tumor which was first described by Adsay et al. in 1996. It has been defined as a new subgroup of IPMN. Case report We report the case of a 76-year-old woman who presented with nausea. Imaging studies revealed a cystic mass in the body of the pancreas. She underwent a successful distal pancreatectomy and splenectomy, and has subsequently remained well. Microscopically, the cyst was lined by columnar epithelium similar to pancreatic duct epithelium, and the nodular projection consisted of arborizing papillary structures, lined by plump cells with abundant eosinophilic cytoplasm. These eosinophilic cells were immunohistochemically positively stained with anti-mitochondrial antibody. The cellular atypism was mild and the proliferating index was low, compatible with adenoma of an intraductal oncocytic papillary neoplasm. Although no ovarian type stroma was identified, in our case, no communication to main pancreatic duct (located in the pancreatic body and rapid growth by intracystic hemorrhage were clinical characteristics of a mucinous cystic neoplasm, but not IPMN. Conclusion With only 17 cases reported to date, the clinical and pathological details of an intraductal oncocytic papillary neoplasm are still unclear. We herein add one case with different characteristics from those of the past reports. To our knowledge, this is the first case report of an intraductal oncocytic papillary neoplasm with the clinical characteristics of a mucinous cystic neoplasm.

  4. Autogenic Drainage in Children With Cystic Fibrosis.

    Science.gov (United States)

    Corten, Lieselotte; Morrow, Brenda M

    2017-04-01

    Airway clearance is an essential part of the management of cystic fibrosis (CF) as it facilitates clearance of viscous pulmonary secretions. This review aimed to determine the effect of autogenic drainage (AD) and assisted autogenic drainage (AAD) compared with no, sham, or other types of airway clearance in children with CF. Two pediatric randomized cross-over trials were identified on the use of AD in children with CF; no studies were available on the use of AAD. In one study AD had a positive influence on the Huang score, and is preferred over postural drainage in this population. We could not determine the efficacy of AD and AAD in children with CF. We recommend the implementation of pediatric-specific randomized controlled trials with adequate sample sizes, appropriate clinical outcome measures, and analysis of adverse effects.

  5. Control programme for cystic echinococcosis in Uruguay

    Directory of Open Access Journals (Sweden)

    Pilar Irabedra

    2016-06-01

    Full Text Available 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.

  6. Scoliosis in cystic fibrosis - an appraisal

    Energy Technology Data Exchange (ETDEWEB)

    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.

  7. Adventitial cystic disease of the axillary artery.

    Science.gov (United States)

    Elster, Eric A; Hewlett, Stanley; DeRienzo, Damian P; Donovan, Sean; Georgia, Jeff; Yavorski, Chester C

    2002-01-01

    Adventitial cystic disease (ACD) is an extremely rare cause of arterial and venous insufficiency, with only 317 reported cases in the world literature. These lesions have been previously described in the popliteal fossa, external iliac artery, and distal brachial, radial, and ulnar arteries as well as in the proximal saphenous vein at the ankle. We describe here the first reported case of this disease in a proximal vessel, the axillary artery. A 33-year-old man was evaluated for upper extremity arterial insufficiency and was diagnosed with ACD on the basis of physical examination and radiographic findings, which was confirmed by pathological assessment. The patient was treated by excision of the lesion and interposition vein bypass. As this represents the first case of ACD in the proximal vasculature, it demonstrates that these lesions can occur in axial blood vessels.

  8. Control programme for cystic echinococcosis in Uruguay

    Science.gov (United States)

    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

  9. Influenza vaccination in children with cystic fibrosis.

    Science.gov (United States)

    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.

  10. Control programme for cystic echinococcosis in Uruguay.

    Science.gov (United States)

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

    2016-05-24

    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.

  11. Poly Cystic Ovarian Syndrome: an updated overview

    Directory of Open Access Journals (Sweden)

    Samer eEl Hayek

    2016-04-01

    Full Text Available 1.AbstractPoly 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, 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.

  12. Poly Cystic Ovarian Syndrome: An Updated Overview.

    Science.gov (United States)

    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.

  13. Ataluren for the treatment of cystic fibrosis.

    Science.gov (United States)

    Shoseyov, David; Cohen-Cymberknoh, Malena; Wilschanski, Michael

    2016-02-24

    Alleles causing diseases that carry premature termination codons (PTCs) will cause premature cessation of translation, leading to loss of function and consequent disease. Recently, a novel agent, Ataluren, was developed through a high throughput screening program. Ataluren is orally bioavailable and was shown to be effective in Cystic Fibrosis (CF). Phase I and II studies established the safety and dosing regimens for Ataluren. The results of a short study showed modest improvements in pulmonary function and a reduction in quantitative cough assessment. There was improvement in nasal potential difference and nasal epithelial CFTR protein. In a phase III trial this effect was not observed in patients that were concomitantly treated with tobramycin inhalation. Following these positive findings, a multinational Phase III placebo-controlled efficacy trial is currently underway.

  14. Dosimetry for radiocolloid therapy of cystic craniopharyngiomas

    CERN Document Server

    Rojas, E L; Lallena, A M; Bodineau, C; Galan, P; Al-Dweri, Feras M.O.; Lallena, Antonio M.; Bodineau, Coral; Galan, Pedro

    2003-01-01

    The dosimetry for radiocolloid therapy of cystic craniopharyngiomas is investigated. Analytical calculations based on the Loevinger and the Berger formulae for electrons and photons, respectively, are compared with Monte Carlo simulations. The role of the material of which the colloid introduced inside the craniopharyngioma is made of as well as that forming the cyst wall is analyzed. It is found that the analytical approaches provide a very good description of the simulated data in the conditions where they can be applied (i.e., in the case of a uniform and infinite homogeneous medium). However, the consideration of the different materials and interfaces produces a strong reduction of the dose delivered to the cyst wall in relation to that predicted by the Loevinger and the Berger formulae.

  15. Diabetes mellitus in childhood cystic fibrosis.

    LENUS (Irish Health Repository)

    Rauf, F

    2012-02-03

    Since 1984, five patients in the cystic fibrosis (CF) clinic at Cork Regional Hospital have developed diabetes mellitus (DM) and were treated with Insulin. None had received systemic corticosteroids but two had high calorie naso-gastric feeding regimes. Two died from lung disease. A fifteen year old boy developed bilateral cataracts. In nine other paediatric CF clinics in the Republic of Ireland (total: 420 patients), three patients have DM, two receiving Insulin. Abnormal glucose tolerance is becoming more common in CF as patients survive longer. The possible role of corticosteroid treatment and intensive carbohydrate feeding regimes in development of glucose intolerance must be considered. DM in CF differs from the usual childhood DM. Regular screening and early Insulin supplementation may be beneficial.

  16. Rare case of deep pelvic retroperitoneal mature cystic teratoma

    Directory of Open Access Journals (Sweden)

    Shalini Mahana Valecha

    2013-06-01

    Full Text Available Mature cystic retroperitoneal teratomas are typically rare childhood tumours. Less than 20% of these occur in adults more than 30 yrs of age. Our adult patient presented with such a tumour, which had grown to a disproportionately large extent. It was deeply embedded in the true pelvis extending laterally to the pelvic wall and inferiorly till the ischiorectal fossa and was adherent to the surrounding structures displacing all. A provisional diagnosis was made after MRI scan and patient was posted for exploratory laparotomy. After extensive blunt and sharp dissection, the cyst wall could be separated from the surrounding structures and successfully excised. Histopathology confirmed the diagnosis. Being such a rare tumour, it is essential to have a high degree of suspicion in such cases that can be supported by advanced imaging modality. Early diagnosis and complete surgical removal are the mainstay of management that provide an excellent prognosis for such patients. [Int J Reprod Contracept Obstet Gynecol 2013; 2(3.000: 460-462

  17. Cystic hydatidosis in Ethiopia: a review

    Directory of Open Access Journals (Sweden)

    S.A. Kassa

    2012-08-01

    Full Text Available Cystic echinococcosis is a cestode infection caused by the larval stage of Echinocococcus granulosus. It is an important zonoses, as humans get infected by ingesting eggs passed in the feces of dogs, and important cause of economic loss mainly due to organ condemnation and reducing the quality of meat, milk, and wool production. Hydatidosis is prevalent in cattle and small ruminant population of Ethiopia in a range of 3.1% to 72.44%. The prevalence rate reaches up to 30.8% in camels and 25% in dogs. Very few retrospective and case reports of cystic human hydatidosis also indicated the relevance of the disease in the human population of the country. Besides to the scarcity of reports the slow growing nature of disease development may result in underestimation of the situation. Economic losses in a range of 3201 to 1,167,512 USD have been reported in the country. Diagnosis of the larvae in the intermediate hosts, especially in humans, is mainly by imaging and immunology techniques. During post mortem examination the cyst can be diagnosed during meat inspection procedures in lungs, liver, heart, spleen, kidneys, muscle bones and other tissues of intermediate hosts. In the definitive host diagnosis can be by demonstration of the parasite from there faces or the small intestine or the detection of specific coproantigens or coproDNA. The role of holistic and systematic interventions approaches involving the public, veterinarians and public health professional for the action to be simultaneous and effectual along with prevalence of hydatidosis are highlighted in the present review.

  18. Human cystic echinococcosis in South Africa

    Directory of Open Access Journals (Sweden)

    Benjamin Mogoye

    2012-06-01

    Full Text Available Cystic echinococcosis (CE is caused by the tapeworm, Echinococcus granulosus. The tapeworms resides in the small intestines of canids and the lifecycle involves both intermediate and definitive hosts. Humans are accidental intermediate hosts. Cystic echinococcosis is an economically important infection constituting a threat to public health, and is considered an emerging disease around the world. There are at least 10 Echinococcus strain types (G1 – G10, each exhibiting diversity of morphology, development and host range. The epidemiology of CE is poorly understood in South Africa. A retrospective data analysis of the National Health Laboratory Service (NHLS laboratory information system on echinococcosis serology, microscopy and histopathology results in eight provinces (excluding KwaZula-Natal showed an overall positivity rate in submitted diagnostic samples of 17.0% (1056/6211, with the Eastern Cape (30.4%, North West (19.0% and Northern Cape (18.0% provinces showing highest rates. The data showed considerable variability between provinces. The review also showed that most proven cases were negative on serology, implying that the actual number of patients could be underestimated. To our knowledge, no data exist about the prevalent strains of E. granulosus and this prospective study will attempt to fill that gap. The aim is to genotype strains causing the disease in South Africa. Two different polymerase chain reaction (PCR methods will be used to respectively target the 12S rRNA and nad 1 genes. To date, three samples have been genotyped as G1, G5 and G6; suggesting diversity of strains prevalent in the country, but more data is needed for a clearer picture.

  19. A new Era of Personalized Medicine for Cystic Fibrosis – at Last!

    Directory of Open Access Journals (Sweden)

    Bradley S Quon

    2015-01-01

    Full Text Available The gene responsible for cystic fibrosis (CF was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR protein. Until recently, all therapies in CF were focused on ameliorating the downstream consequences of CFTR dysfunction. High-throughput drug screening approaches have yielded compounds that can modify CFTR structure and function, thus targeting the basic defect in CF. The present article describes the CFTR mutational classes, reviews mutation-specific therapies currently in late-phase clinical development, and highlights research opportunities and challenges with personalized medicine in CF.

  20. Attitudes of potential providers toward preconceptual cystic fibrosis carrier screening.

    NARCIS (Netherlands)

    Poppelaars, F.; Ader, H.J.; Cornel, M.C.; Henneman, L.; Hermens, R.P.M.G.; Wal, G. van der; Kate, L. ten

    2004-01-01

    To determine the attitudes of potential providers (general practitioners and Community Health Service workers) towards preconceptual cystic fibrosis (CF) carrier screening and to determine which factors are associated with a positive attitude. A survey was conducted among 200 general practitioners (

  1. Complementary and alternative medicine use in children with cystic fibrosis.

    Science.gov (United States)

    Giangioppo, Sandra; Kalaci, Odion; Radhakrishnan, Arun; Fleischer, Erin; Itterman, Jennifer; Lyttle, Brian; Price, April; Radhakrishnan, Dhenuka

    2016-11-01

    To estimate the overall prevalence of complementary and alternative medicine use among children with cystic fibrosis, determine specific modalities used, predictors of use and subjective helpfulness or harm from individual modalities. Of 53 children attending the cystic fibrosis clinic in London, Ontario (100% recruitment), 79% had used complementary and alternative medicine. The most commonly used modalities were air purifiers, humidifiers, probiotics, and omega-3 fatty acids. Family complementary and alternative medicine use was the only independent predictor of overall use. The majority of patients perceived benefit from specific modalities for cystic fibrosis symptoms. Given the high frequency and number of modalities used and lack of patient and disease characteristics predicting use, we recommend that health care providers should routinely ask about complementary and alternative medicine among all pediatric cystic fibrosis patients and assist patients in understanding the potential benefits and risks to make informed decisions about its use. Copyright © 2016 Elsevier Ltd. All rights reserved.

  2. A pulmonary mucinous cystic tumour of borderline malignancy.

    Science.gov (United States)

    Bacha, D; Ayadi-Kaddour, A; Smati, B; Kilani, T; El Mezni, F

    2008-06-01

    We report a well-documented case of pulmonary mucinous cystic tumour of borderline malignancy involving the left lower lobe. The lesion was found incidentally by chest radiograph and CT scan with a provisional diagnosis of bronchioloalveolar carcinoma. The tumour was 4 cm in its greatest dimension, cystic and filled with gelatinous mucus. Microscopically, the neoplastic mucinous epithelium was composed of cuboidal cells with focally nuclear stratification and mild to moderate nuclear atypia. The patient has remained free from recurrence or metastases for 6 years. Pulmonary mucinous cystic tumour of borderline malignancy is a rare, recently described neoplasm, which spans a spectrum of tumours with malignant potential. The recent World Health Organization classification of lung tumours does not recognize this entity, which has a very good prognosis, and as such should be distinguished from classic pulmonary adenocarcinoma. Histological diagnosis can be difficult to distinguish from cystic bronchioloalveolar carcinoma or metastatic mucinous adenocarcinoma.

  3. growth and nutrition in south african children with cystic fibrosis

    African Journals Online (AJOL)

    Cystic fibrosis (CF) is the most common life-threatening genetic disease among Caucasian ... effective pancreatic enzyme replacement formulations has made it possible to ... That this deficit was nutritional in origin is supported by the similar ...

  4. Cystic fibroadenoma of the breast: a case report.

    Science.gov (United States)

    Durak, Merih Güray; Karaman, Ilgın; Canda, Tülay; Balci, Pınar; Harmancioğlu, Omer

    2011-01-01

    Fibroadenoma is the most common breast tumor in adolescent and young women. Fibroadenomas that consist of sclerosing adenosis, papillary apocrine metaplasia, epithelial calcifications, and/or cysts greater than 3 mm are considered as complex fibroadenoma. The relative risk of developing breast cancer in patients with complex fibroadenoma is increased, compared to women with noncomplex fibroadenoma. Extensive cystic degeneration in a fibroadenoma, so called "cystic fibroadenoma" is very rare. Herein, we present a case of such a lesion in a 43-year-old female who has been on follow-up for fibrocystic changes of the breast, and discuss both radiological and histopathologic differential diagnosis of this lesion with other cystic lesions of the breast, including cystic papilloma. The patient is free of disease after 17 months of clinical follow-up.

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

    Science.gov (United States)

    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. Copyright © 2014 SEEN. Published by Elsevier Espana. All rights reserved.

  6. Cystic lesions of the pineal region - MRI and pathology

    Energy Technology Data Exchange (ETDEWEB)

    Engel, U. [Department of Neuropathology, Benjamin-Franklin-Klinikum, Faculty of Medicine, Freie Universitaet Berlin, Hindenburgdamm 30, 12200 Berlin (Germany); Gottschalk, S.; Niehaus, L.; Lehmann, R. [Department of Neuroradiology, Institute of Radiological Diagnosis, Charite University Hospital, Berlin (Germany); May, C.; Vogel, S. [Neurosurgical Clinic, St. Gertraud' s Hospital, Berlin (Germany); Jaenisch, W. [Department of Neuropathology, Landesklinik Brandenburg (Germany)

    2000-06-01

    Pineal lesions are rare. Tumours in this location comprise 0.4-1% of intracranial tumours. They grow mainly as solid-mass lesions, and cystic tumours are not common. On MRI, a cystic configuration is associated usually with non-neoplastic pineal lesions rather than with a tumour, but analysis does not allow cystic pineal tumours to be distinguished from glial cysts with certainty. We compared neuroradiological and pathological data from 13 cystic pineal lesions, analysing preoperative MRI. Formalin-fixed, paraffin-embedded surgical specimens were stained routinely and immunocytochemically, using the streptavidin-biotin-complex method. Histology revealed six pineocytomas, four glial cysts, an arachnoid cyst, a low-grade astrocytoma and a teratoma. Signal characteristics of pineocytomas were similar in many respects to those of glial pineal cysts. Histomorphological analysis allowed unambiguous discrimination between pineocytomas and glial pineal cysts. (orig.)

  7. Inflammation in Achromobacter xylosoxidans infected cystic fibrosis patients

    DEFF Research Database (Denmark)

    Hansen, C. R.; Pressler, T.; Nielsen, K. G.

    2010-01-01

    BACKGROUND: Achromobacter xylosoxidans infection may cause conspicuous chronic pulmonary inflammation in cystic fibrosis (CF) patients similar to Pseudomonas aeruginosa and the Burkholderia cepacia complex (Bcc). Evolution in lung function was compared in chronically infected patients. Cytokine...

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

    Science.gov (United States)

    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.

  9. Giant cystic sacral schwannoma mimicking tarlov cyst: a case report.

    Science.gov (United States)

    Attiah, Mark A; Syre, Peter P; Pierce, John; Belyaeva, Elizaveta; Welch, William C

    2016-05-01

    To present a rare case of a giant schwannoma of the sacrum mimicking a Tarlov cyst. A 58-year-old woman had a 1-year history of low back pain. MRI revealed a large cystic mass in the sacral canal with bony erosion. Radiological diagnosis of Tarlov cyst was made. The patient underwent surgical treatment for the lesion, which revealed a solid mass. Histopathological examination of the tumor confirmed the diagnosis of schwannoma. The postoperative course was uneventful and the patient has had significant improvement in her pain 1 month postoperatively. Giant cystic schwannoma of the sacrum is a very rare diagnosis overlooked by practitioners for more common cystic etiologies, but its treatment is significantly different. Care should be taken to include this diagnosis in a differential for a cystic sacral mass.

  10. [Secondary cystic changes in the kidneys in chronic kidney failure].

    Science.gov (United States)

    Todorov, V; Lalev, I; Monov, A; Penkova, S

    1989-01-01

    In patients with chronic renal failure the presence and frequency of acquired cystic changes in the kidneys (acquired cystic renal disease) were studied. 46 patients, 21 to 62 years of age and duration of hemodialysis treatment from 2 up to 126 months, were examined. The patients with polycystic kidneys were excluded. Cysts were found in 67.4% of the patients. They were classified into five groups. Between the duration of the hemodialysis treatment (the chronic renal failure respectively) and the development of the cystic renal disease correlation was found. The correlation between the length of the kidneys and the cystic changes is statistically significant. There is no correlation with the sex, age, basic disease, hematologic indices, diuresis and arterial pressure of the patients. In 50% of the patients examined splenomegaly was found the cause of which is not known.

  11. Interdisciplinary Management of Cystic Neoplasms of the Pancreas

    Directory of Open Access Journals (Sweden)

    Linda S. Lee

    2012-01-01

    Full Text Available Cystic neoplasms of the pancreas are increasingly recognized due to the frequent use of abdominal imaging. It is reported that up to 20% of abdominal cross-sectional scans identify incidental asymptomatic pancreatic cysts. Proper characterization of pancreatic cystic neoplasms is important not only to recognize premalignant lesions that will require surgical resection, but also to allow nonoperative management of many cystic lesions that will not require resection with its inherent morbidity. Though reliable biomarkers are lacking, a wide spectrum of diagnostic modalities are available to evaluate pancreatic cystic neoplasms, including radiologic, endoscopic, laboratory, and pathologic analysis. An interdisciplinary approach to management of these lesions which incorporates recent, specialty-specific advances in the medical literature is herein suggested.

  12. Changes in Cystic Fibrosis Airway Microbiota at Pulmonary Exacerbation

    OpenAIRE

    Carmody, Lisa A.; Zhao, Jiangchao; Patrick D. Schloss; Petrosino, Joseph F.; Murray, Susan; Young, Vincent B.; Jun Z Li; LiPuma, John J.

    2013-01-01

    Rationale: In persons with cystic fibrosis (CF), repeated exacerbations of pulmonary symptoms are associated with a progressive decline in lung function. Changes in the airway microbiota around the time of exacerbations are not well understood.

  13. Adeno-associated virus for cystic fibrosis gene therapy

    Directory of Open Access Journals (Sweden)

    S.V. Martini

    2011-11-01

    Full Text Available Gene therapy is an alternative treatment for genetic lung disease, especially monogenic disorders such as cystic fibrosis. Cystic fibrosis is a severe autosomal recessive disease affecting one in 2500 live births in the white population, caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR. The disease is classically characterized by pancreatic enzyme insufficiency, an increased concentration of chloride in sweat, and varying severity of chronic obstructive lung disease. Currently, the greatest challenge for gene therapy is finding an ideal vector to deliver the transgene (CFTR to the affected organ (lung. Adeno-associated virus is the most promising viral vector system for the treatment of respiratory disease because it has natural tropism for airway epithelial cells and does not cause any human disease. This review focuses on the basic properties of adeno-associated virus and its use as a vector for cystic fibrosis gene therapy.

  14. Cystic duct remnant mucocele in a liver transplant recipient

    Energy Technology Data Exchange (ETDEWEB)

    Ahlawat, Sushil K. [Georgetown University Hospital, Department of Medicine, Division of Gastroenterology, Washington, DC (United States); University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ (United States); Fishbien, Thomas M. [Georgetown University Hospital, Department of Medicine, Division of Gastroenterology, Washington, DC (United States); Haddad, Nadim G. [Georgetown University Hospital, Department of Surgery, Division of Transplant Surgery, Washington, DC (United States)

    2008-08-15

    Cystic duct remnant mucocele is an extremely rare complication of liver transplantation in children. Surgical correction is usually required for cystic duct remnant mucocele when it causes biliary obstruction. We describe a 14-month-old liver transplant recipient who presented with biliary obstruction 1 month after orthotopic liver transplantation with an end-to-end choledochocholedocal biliary anastomosis for hepatoblastoma. US, CT and cholangiography findings were consistent with mucocele of the allograft cystic duct remnant. Surgery was not needed in our patient because the mucocele and biliary obstruction had resolved on repeat imaging most likely due to guidewire manipulation during cholangiography, resulting in opening of the cystic duct remnant orifice and drainage into the common duct. (orig.)

  15. [Cystic formations of ovaries in women: clinical and morphological features

    Directory of Open Access Journals (Sweden)

    Sorokina I.V.

    2015-06-01

    Full Text Available Background. Cystic formations of ovaries are an urgent problem of medicine due to the high incidence of these diseases in women, the difficulties of differential diagnosis and a high percentage of diagnostic and tactical mistakes leading to disruption of reproductive function. Objective: to identify the clinical and morphological features of cystic formations of ovaries in women of Kharkiv region on the basis of the analysis of archival material. Methods. The material of this study was archival materials of pathological anatomy department of The Municipal Health Care Institution «Regional Clinical Hospital – The Center of Emergency Medicine and Disaster Medicine» during 2013 y. 354 cases of histological examination of surgical material – deleted fragments of ovaries due to cystic formations or ovaries in complex with uterus and fallopian tubes due to leiomyoma of uterus – were analyzed. The slides, stained with hematoxylin and eosin, were studied on the microscope «Olympus BX-41». Digital data were processed using statistical methods of investigation. Results. 1. It was established that in women of Kharkiv region among all cystic formations of ovaries tumor-like processes (in order of frequency of occurrence – yellow bodies cysts, follicular cysts, simple cysts, endometrial cysts occur 5.5 times more frequently in comparison with tumor processes (in order of frequency of occurrence – dermoid cysts, cystadenomas, cystadenocarcinoma. 2. Tumor and tumor-like cystic formations of ovaries occur 4.6 times more frequently in right ovary in comparison with the left. 3. Tumor and tumor-like cystic formations of ovaries were characterized by a certain age. Tumor-like cystic formations of ovaries were typical for younger women (average age of women – 31.03±0.49 year and tumor cystic formations – for older women (average age of women – 37.70±1.53 years. Among all tumor-like cystic formations of ovaries yellow bodies cysts were typical

  16. Mucins in the diagnosis and differential diagnosis of pancreatic cystic neoplasms: report of 40 cases

    Institute of Scientific and Technical Information of China (English)

    JI Yuan; TAN Yun-shan; XU Jian-fang; QI Wei-dong; LI Xiao-ping; SU-JIE Ake-su; ZHU Xiong-zeng

    2006-01-01

    @@ Cystic neoplasms of the pancreas account for 10% to 15% of all cystic pancreatic lesions.The majority (85% to 90%) of cystic lesions of the pancreas are pseudocysts. Although cystic neoplasms of the pancreas are rare, they range from benign to malignant neoplasms. The clinical challenge is the differential diagnosis and management of the cystic neoplasms, which represent 10% to 25% of primary pancreatic neoplasms. Pancreatic neoplasms and tumour like lesions with cystic features have been recently reviewed. The incidence of pancreatic cystic neoplasms reported is variable. Because there is no large, systematic study on tne cases from China comparing the incidence and biology of cystic neoplasms of pancreas to that of Western series, we reviewed all the cases of cystic neoplasms from Zhongshan Hospital over 6 years. Most of the neoplasms in our series were classified according to the recent World Health Organization (WHO)classification.1,2

  17. New insights into cystic fibrosis: molecular switches that regulate CFTR.

    Science.gov (United States)

    Guggino, William B; Stanton, Bruce A

    2006-06-01

    Cystic fibrosis transmembrane conductance regulator (CFTR), a Cl(-)-selective ion channel, is a prototypic member of the ATP-binding cassette transporter superfamily that is expressed in several organs. In these organs, CFTR assembles into large, dynamic macromolecular complexes that contain signalling molecules, kinases, transport proteins, PDZ-domain-containing proteins, myosin motors, Rab GTPases, and SNAREs. Understanding how these complexes regulate the intracellular trafficking and activity of CFTR provides a unique insight into the aetiology of cystic fibrosis and other diseases.

  18. Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

    DEFF Research Database (Denmark)

    Johansen, Helle Krogh; Gøtzsche, Peter C

    2013-01-01

    Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed.......Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed....

  19. Cystic Brunner's gland hamartoma in the duodenum: A case report

    Institute of Scientific and Technical Information of China (English)

    Beom Jin Park; Min Ju Kim; Jeong Hyeon Lee; Sung-Soo Park; Deuk Jae Sung; Sung Bum Cho

    2009-01-01

    Cystic Brunner's gland hamartoma in the duodenum is exceedingly rare, although microscopic examination may sometimes reveal a Brunner's gland hamartoma containing dilated ducts in the duodenum. We present a case of large cystic Brunner's gland hamartoma in the duodenum with a long stalk, which is described in light of multidetector-row computed tomography, magnetic resonance imaging, and a modified small bowel series, together with pathologic correlation and differential diagnosis.

  20. Cystic changes associated with pulmonary tuberculosis: a case report

    Institute of Scientific and Technical Information of China (English)

    CAI Hou-rong; CAO Min; MENG Fan-qing; LI Wei-chun

    2006-01-01

    @@ There are a wide range of computed tomography (CT) findings in patients with pulmonary tuberculosis, including diffuse or localized nodules,reticular opacities, ground glass attenuation, air trapping, consolidation, cavitation, fibrosis, lymph nodes enlargement, and septal thickening.1-3However, CT findings of pulmonary tuberculosis that appeared as multiple cystic lesions were very rare.3,4Herein, the CT findings appeared as multiple cystic lesions in a patient with pulmonary tuberculosis are reported.

  1. Cystic lung disease in tuberculosis: An unusual presentation

    Directory of Open Access Journals (Sweden)

    Animesh Ray

    2013-01-01

    Full Text Available Cysts in the lung can arise due to large number of causes out of which tuberculosis is very rare, We report a case of tuberculosis in a young female presenting as a febrile illness and respiratory failure with radiological features of cystic lung disease. With treatment,fever and respiratory distress subsided and cysts in the lungs showed partial regression. We highlight the need to consider tuberculosis in the differential diagnoses of cystic lung disease under appropriate circumstances.

  2. Brainstem cysticercose simulating cystic tumor lesion: a case report

    Directory of Open Access Journals (Sweden)

    Walter O. Arruda

    1994-09-01

    Full Text Available The authors report the case of a 37 year-old man with a solitary cysticercus cyst in the brainstem (pons successfully removed through a suboccipital craniectomy. Surgery in neurocysticercosis has been indicated in patients with hydrocephalus and/or large cystic lesions. Cystic lesions in the brainstem and spinal cord may have indication for surgery for two reasons: (1 diagnosis; and (2 treatment. Aspects related to differential diagnosis and therapeutic alternatives are discussed.

  3. A Posterior Mediastinal Seminoma with Extensive Cystic Change

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yong Hee; Jeon, Kyung Nyeo; Park, Mi Jung; Kim, Ji Eun; Bae, Kyung Soo; Choi, Dae Seob; Na, Jae Boem; Lee, Jeong Hee; Jang, In Seok [Gyeongsang National University Hospital, Jinju (Korea, Republic of)

    2010-10-15

    The posterior mediastinum is a rare site of origin for seminoma, and extensive cystic change of a seminoma is rarely observed. We present here the case of a 62-year-old male patient with a primary posterior mediastinal seminoma that was encasing the descending thoracic aorta and the tumor showed prominent cystic change on CT and MRI, and intense FDG uptake on PET/CT.

  4. Incidence of cystic changes in impacted lower third molar

    Directory of Open Access Journals (Sweden)

    Shridevi R Adaki

    2013-01-01

    Full Text Available Objective: To assess the incidence of cystic changes in the impacted lower third molar (ILTM in which the pericoronal (follicular space is less than 2.5 mm as measured from the radiograph. The relationship between the cystic changes and patient′s age, sex, and angular position and contact of ILTM with adjacent tooth was also evaluated. Materials and Methods: Follicular space less than 2.5 mm as measured from the panoramic radiograph was included in the study. A total of 73 tissue samples collected during the extraction ILTM were examined histopathologically. Then the data were analyzed for associations with age, sex, angular position, and contact of the ILTM with an adjacent tooth. Results: There were 37 male and 36 female patients, age ranging from 17 to 35 years (mean 23.95 years. Out of 73 specimens, 17 (23.3% showed cystic changes; among them 16 (22.1% showed dentigerous cysts and 1 (1.2% showed odontogenic keratocysts. Most of the cystic changes occurred in the 26-30 year age range. The cystic changes showed male predominance but could not gain statistical significance. The relationship between cystic changes and angular position was statistically significant (P < 0.05. Higher probability was found in distoangular positioned ILTM. The relationship between cystic changes and communication of ILTM with the second molar was not statistically significant. Conclusion: Incidence of cystic changes in ILTM justifies extraction of the impacted tooth associated with symptoms. The decision to extract or not to extract impacted third molar should be individualized, rather than generalized.

  5. Immunology and Immunodiagnosis of Cystic Echinococcosis: An Update

    OpenAIRE

    Wenbao Zhang; Hao Wen; Jun Li; Renyong Lin; McManus, Donald P.

    2012-01-01

    Cystic echinococcosis (CE) is a cosmopolitan zoonosis caused by the larval cystic stage of the dog tapeworm Echinococcus granulosus. This complex multicellular pathogen produces various antigens which modulate the host immune response and promote parasite survival and development. The recent application of modern molecular and immunological approaches has revealed novel insights on the nature of the immune responses generated during the course of a hydatid infection, although many aspects of ...

  6. Increased PIVKA-II concentrations in patients with cystic fibrosis.

    OpenAIRE

    de Montalembert, M; Lenoir, G; Saint-Raymond, A.; Rey, J; Lefrère, J J

    1992-01-01

    Serum vitamin K concentrations and prothrombin induced by absence of vitamin K (PIVK-II) concentrations were assayed in 43 patients with cystic fibrosis. Twenty nine showed a normal PIVKA-II and vitamin K concentrations; 14 showed an increased PIVKA-II concentration, in one of whom serum vitamin K was decreased. Although their vitamin K concentrations were normal, some patients with cystic fibrosis still had an increased PIVKA-II. There was a significant correlation between PIVKA-II concentra...

  7. Cystic pancreatic neuroendocrine tumors: To date a diagnostic challenge.

    Science.gov (United States)

    Caglià, Pietro; Cannizzaro, Maria Teresa; Tracia, Angelo; Amodeo, Luca; Tracia, Luciano; Buffone, Antonino; Amodeo, Corrado; Cannizzaro, Matteo Angelo

    2015-09-01

    Cystic PNETs are an uncommon neoplasms increasingly detected in current clinical practice which often present a diagnostic challenges to both the experienced radiologist and pathologist. The aim of this study was to review the available literature to summarize current data that compare and evaluate both the clinical and pathologic features of cystic pancreatic neuroendocrine tumors. A systematic review of the current literature was performed using the search engines EMBASE and PubMed to identify all studies reporting on cystic pancreatic neuroendocrine tumors. The MeSH search terms used were "cystic pancreatic neuroendocrine tumors", "endocrine neoplasms", and "pancreatic cysts". Multiple combinations of the keywords and MeSH terms were used. The clinical evaluation of cystic pancreatic lesions appears to suffer from same limitations despite the improvement in the diagnostic tools. Subsequently, we highlight diagnostic pitfalls and differential diagnosis of these cystic tumors. In this review we discuss current advances in the application of the imaging modalities and characteristics features with special emphasize on endoscopic ultrasound (EUS), and EUS guide fine needle aspiration (EUS-FNA). Cystic neuroendocrine tumor in the pancreas underlines the clinical impact of endoscopic ultrasound in the work-up of patients with unclear lesions in the pancreas. EUS-FNA cytology and cyst fluid analysis is a useful adjunct to abdominal imaging for the diagnosis of pancreatic cystic lesions. Due to the evident diagnostic difficulties, we hypothesize that cyst fluid characteristics, including cytomorphological features, is the most accurate test to achieve a preoperative diagnosis and to provide a basis for prognostic prediction. Copyright © 2015 IJS Publishing Group Limited. Published by Elsevier Ltd. All rights reserved.

  8. Chronic Low Back Pain due to Retroperitoneal Cystic Lymphangioma

    Directory of Open Access Journals (Sweden)

    Asieh Sadat Fattahi

    2014-03-01

    Full Text Available 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.

  9. Chronic Low Back Pain due to Retroperitoneal Cystic Lymphangioma

    Directory of Open Access Journals (Sweden)

    Asieh Sadat Fattahi

    2014-03-01

    Full Text Available   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.

  10. Cystic Odontoma in a Patient with Hodgkin’s Lymphoma

    Directory of Open Access Journals (Sweden)

    Victor Costa

    2015-01-01

    Full Text Available 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.

  11. Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

    DEFF Research Database (Denmark)

    Johansen, Helle Krogh; Gøtzsche, Peter C

    2015-01-01

    BACKGROUND: Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed. This is a......BACKGROUND: Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed....... This is an update of a previously published review. OBJECTIVES: To assess the effectiveness of vaccination against Pseudomonas aeruginosa in cystic fibrosis. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register using the terms vaccines AND pseudomonas (last search 30...... March 2015). We previously searched PubMed using the terms vaccin* AND cystic fibrosis (last search 30 May 2013). SELECTION CRITERIA: Randomised trials (published or unpublished) comparing Pseudomonas aeruginosa vaccines (oral, parenteral or intranasal) with control vaccines or no intervention in cystic...

  12. Cystic neoplasms of the pancreas: A diagnostic challenge

    Institute of Scientific and Technical Information of China (English)

    Grant F Hutchins; Peter V Draganov

    2009-01-01

    Cystic neoplasms of the pancreas are increasingly recognized due to the expanding use and improved sensitivity of cross-sectional abdominal imaging. Major advances in the last decade have led to an improved understanding of the various types of cystic lesions and their biologic behavior. Despite significant improvements in imaging technology and the advent of endoscopic-ultrasound (EUS)-guided fineneedle aspiration, the diagnosis and management of pancreatic cystic lesions remains a significant clinical challenge. The first diagnostic step is to differentiate between pancreatic pseudocyst and cystic neoplasm.If a pseudocyst has been effectively excluded, the cornerstone issue is then to determine the malignant potential of the pancreatic cystic neoplasm. In the majority of cases, the correct diagnosis and successful management is based not on a single test but on incorporating data from various sources including patient history, radiologic studies, endoscopic evaluation, and cyst fluid analysis. This review will focus on describing the various types of cystic neoplasms of the pancreas, their malignant potential, and will provide the clinician with a comprehensive diagnostic approach.

  13. Diffusion-weighted imaging in characterization of cystic pancreatic lesions

    Energy Technology Data Exchange (ETDEWEB)

    Sandrasegaran, K., E-mail: ksandras@iupui.edu [Department of Radiology, Indiana University School of Medicine, Indianapolis, IN (United States); Akisik, F.M.; Patel, A.A.; Rydberg, M. [Department of Radiology, Indiana University School of Medicine, Indianapolis, IN (United States); Cramer, H.M.; Agaram, N.P. [Department of Pathology, Indiana University School of Medicine, Indianapolis, IN (United States); Schmidt, C.M. [Department of Surgery, Indiana University School of Medicine, Indianapolis, IN (United States)

    2011-09-15

    Aim: To evaluate whether apparent diffusion coefficient (ADC) measurements from diffusion-weighted imaging (DWI) can characterize or predict the malignant potential of cystic pancreatic lesions. Materials and methods: Retrospective review of the magnetic resonance imaging (MRI) database over a 2-year period revealed 136 patients with cystic pancreatic lesions. Patients with DWI studies and histological confirmation of cystic mass were included. In patients with known pancreatitis, lesions with amylase content of >1000 IU/l that resolved on subsequent scans were included as pseudocysts. ADC of cystic lesions was measured by two independent reviewers. These values were then compared to categorize these lesions as benign or malignant using conventional MRI sequences. Results: Seventy lesions were analysed: adenocarcinoma (n = 4), intraductal papillary mucinous neoplasm (IPMN; n = 28), mucinous cystic neoplasm (MCN; n = 9), serous cystadenoma (n = 16), and pseudocysts (n = 13). There was no difference between ADC values of malignant and non-malignant lesions (p = 0.06), between mucinous and serous tumours (p = 0.12), or between IPMN and MCN (p = 0.42). ADC values for low-grade IPMN were significantly higher than those for high-grade or invasive IPMN (p = 0.03). Conclusion: ADC values may be helpful in deciding the malignant potential of IPMN. However, they are not useful in differentiating malignant from benign lesions or for characterizing cystic pancreatic lesions.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  16. PECULIARITIES OF ENT-DAMAGE IN CHILDREN WITH CYSTIC FIBROSIS

    Directory of Open Access Journals (Sweden)

    I.V. Martynova

    2011-01-01

    Full Text Available Traditional approach to cystic fibrosis patients treatment doesn’t involve upper respiratory tract assessment, though abnormal changes — consequences of the cystic fibrosis transmembrane conductivity regulator gene mutation- do affect nasal and paranasal mucosa to the same extent. Approximately half of cystic fibrosis patients suffer from chronic rhinosinusitis and/or nasal polyposis that worsens the clinical course of already severe disease. Chronic hyperplasia in paranasal cavities can be quite extensive, recurrent and can lead to destruction of osseous walls of the cavity and of nasal septum. Thus increasing the amount of hospital admissions and and their duration. Low awareness of ENT-specialists working in polyclinics and in hospitals of ENT-pathology in cystic fibrosis patients leads to belated diagnostics, excessive manipulations, ineffective treatment, including surgery. All these lays grounds to implication of the early screening diagnostic program and development of proper treatment methods of ENT-complications of cystic fibrosis — therapeutic as well as surgical, with strict specification of indications and contraindications. Key words: cystic fibrosis, chronic rhino sinusitis, nasal polyposis. (Voprosy sovremennoi pediatrii — Current Pediatrics. — 2011; 10 (5: 49–53.

  17. Advanced endoscopic ultrasound management techniques for preneoplastic pancreatic cystic lesions

    Science.gov (United States)

    Arshad, Hafiz Muhammad Sharjeel; Bharmal, Sheila; Duman, Deniz Guney; Liangpunsakul, Suthat; Turner, Brian G

    2017-01-01

    Pancreatic cystic lesions can be benign, premalignant or malignant. The recent increase in detection and tremendous clinical variability of pancreatic cysts has presented a significant therapeutic challenge to physicians. Mucinous cystic neoplasms are of particular interest given their known malignant potential. This review article provides a brief but comprehensive review of premalignant pancreatic cystic lesions with advanced endoscopic ultrasound (EUS) management approaches. A comprehensive literature search was performed using PubMed, Cochrane, OVID and EMBASE databases. Preneoplastic pancreatic cystic lesions include mucinous cystadenoma and intraductal papillary mucinous neoplasm. The 2012 International Sendai Guidelines guide physicians in their management of pancreatic cystic lesions. Some of the advanced EUS management techniques include ethanol ablation, chemotherapeutic (paclitaxel) ablation, radiofrequency ablation and cryotherapy. In future, EUS-guided injections of drug-eluting beads and neodymium:yttrium aluminum agent laser ablation is predicted to be an integral part of EUS-guided management techniques. In summary, International Sendai Consensus Guidelines should be used to make a decision regarding management of pancreatic cystic lesions. Advanced EUS techniques are proving extremely beneficial in management, especially in those patients who are at high surgical risk. PMID:27574295

  18. Partially Cystic Thyroid Nodules: Ultrasound Findings of Malignancy

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jang Mi; Choi, Yoon Jung; Kwag, Hyon Joo [Dept. of Radiology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2012-09-15

    To seek for the ultrasound (US) findings of partially cystic thyroid nodules that are associated with malignancy. We reviewed the US characteristics of 22 surgically confirmed partially cystic papillary carcinomas, and compared them with those of 80 benign partially cystic nodules. The review cases were selected in a random order from a total of 1029 partially cystic nodules that were diagnosed with an US-guided fine needle aspiration biopsy over a period of 8 years (June 2003 to October 2010) at our institution. In partially cystic thyroid nodules, a taller-than-wide shape (100%, p<0.001) and spiculated or microlobulated margin (58.3%, p 0.003) were significantly associated with malignancy. In terms of internal solid portion of the nodule, eccentric configuration (68.0%, p<0.001), non-smooth margin (81.3%, p<0.001), hypoechogenecity (30.0%, p<0.042), and microcalcification (89.5%, p<0.001) were more frequently demonstrated in malignant nodules than benign ones. In partially cystic thyroid nodules, understanding the characteristics of US findings is important to make a precise diagnosis of malignant nodules.

  19. Mesenteric cystic lymphangioma: a congenital and an acquired anomaly? Two cases and a review of the literature.

    NARCIS (Netherlands)

    Weeda, V.B.; Booij, K.A.; Aronson, D.C.

    2008-01-01

    Mesenteric cystic lymphangioma is an uncommon benign abdominal mass. Two cases of mesenteric cystic lymphangioma are presented, both in combination with malrotation and intermittent volvulus. Both mesenteric cystic lymphangiomas were located near the duodenojejunal junction, the usual area of

  20. 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.

    Science.gov (United States)

    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.

  1. Cystic Lesions of the Gastrointestinal Tract: Multimodality Imaging with Pathologic Correlations

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jong Mee; Park, Cheol Min; Kim, Kyeong Ah; Lee, Chang Hee; Choi, Jae Woong; Shin, Bong Kyung; Lee, Soon Jin; Choi, Dong Il [Korea University College of Medicine Korea University Guro Hospital, Seoul (Korea, Republic of); Jang, Kee Taek [Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2010-08-15

    The cystic lesions of the gastrointestinal (GI) tract demonstrate the various pathologic findings. Some lesions may present a diagnostic challenge because of non-specific imaging features; however, other lesions are easily diagnosed using characteristic radiologic features and anatomic locations. Cystic masses from the GI tract can be divided into several categories: congenital lesions, neoplastic lesions (cystic neoplasms, cystic degeneration of solid neoplasms), and other miscellaneous lesions. In this pictorial review, we describe the pathologic findings of various cystic lesions of the GI tract as well as the radiologic features of GI cystic lesions from several imaging modalities including a barium study, transabdominal ultrasound (US), computed tomography (CT), and magnetic resonance (MR) imaging

  2. Data Mining of Lung Microbiota in Cystic Fibrosis Patients

    Science.gov (United States)

    Xiao, Yan; Wang, Jianwei; Qin, Xuemei

    2016-01-01

    The major therapeutic strategy used to treat exacerbated cystic fibrosis (CF) is antibiotic treatment. As this approach easily generates antibiotic-resistant strains of opportunistic bacteria, optimized antibiotic therapies are required to effectively control chronic and recurrent bacterial infections in CF patients. A promising future for the proper use of antibiotics is the management of lung microbiota. However, the impact of antibiotic treatments on CF microbiota and vice versa is not fully understood. This study analyzed 718 sputum samples from 18 previous studies to identify differences between CF and uninfected lung microbiota and to evaluate the effects of antibiotic treatments on exacerbated CF microbiota. A reference-based OTU (operational taxonomic unit) picking method was used to combine analyses of data generated using different protocols and platforms. Findings show that CF microbiota had greater richness and lower diversity in the community structure than uninfected control (NIC) microbiota. Specifically, CF microbiota showed higher levels of opportunistic bacteria and dramatically lower levels of commensal bacteria. Antibiotic treatment affected exacerbated CF microbiota notably but only transiently during the treatment period. Limited decrease of the dominant opportunistic bacteria and a dramatic decrease of commensal bacteria were observed during the antibiotic treatment for CF exacerbation. Simultaneously, low abundance opportunistic bacteria were thriving after the antibiotic treatment. The inefficiency of the current antibiotic treatment against major opportunistic bacteria and the detrimental effects on commensal bacteria indicate that the current empiric antibiotic treatment on CF exacerbation should be reevaluated and optimized. PMID:27741283

  3. Microstructural alterations of sputum in cystic fibrosis lung disease

    Science.gov (United States)

    Duncan, Gregg A.; Jung, James; Joseph, Andrea; Thaxton, Abigail L.; West, Natalie E.; Boyle, Michael P.; Hanes, Justin

    2016-01-01

    The stasis of mucus secretions in the lungs of cystic fibrosis (CF) patients leads to recurrent infections and pulmonary exacerbations, resulting in decreased survival. Prior studies have assessed the biochemical and biophysical features of airway mucus in individuals with CF. However, these measurements are unable to probe mucus structure on microscopic length scales relevant to key players in the progression of CF-related lung disease, namely, viruses, bacteria, and neutrophils. In this study, we quantitatively determined sputum microstructure based on the diffusion of muco-inert nanoparticle probes in CF sputum and found that a reduction in sputum mesh pore size is characteristic of CF patients with reduced lung function, as indicated by measured FEV1. We also discovered that the effect of ex vivo treatment of CF sputum with rhDNase I (Pulmozyme) on microstructure is dependent upon the time interval between the most recent inhaled rhDNase I treatment and the sample collection. Microstructure of mucus may serve as a marker for the extent of CF lung disease and as a parameter for assessing the effectiveness of mucus-altering agents. PMID:27812540

  4. Data Mining of Lung Microbiota in Cystic Fibrosis Patients.

    Science.gov (United States)

    Li, Jianguo; Hao, Chunyan; Ren, Lili; Xiao, Yan; Wang, Jianwei; Qin, Xuemei

    2016-01-01

    The major therapeutic strategy used to treat exacerbated cystic fibrosis (CF) is antibiotic treatment. As this approach easily generates antibiotic-resistant strains of opportunistic bacteria, optimized antibiotic therapies are required to effectively control chronic and recurrent bacterial infections in CF patients. A promising future for the proper use of antibiotics is the management of lung microbiota. However, the impact of antibiotic treatments on CF microbiota and vice versa is not fully understood. This study analyzed 718 sputum samples from 18 previous studies to identify differences between CF and uninfected lung microbiota and to evaluate the effects of antibiotic treatments on exacerbated CF microbiota. A reference-based OTU (operational taxonomic unit) picking method was used to combine analyses of data generated using different protocols and platforms. Findings show that CF microbiota had greater richness and lower diversity in the community structure than uninfected control (NIC) microbiota. Specifically, CF microbiota showed higher levels of opportunistic bacteria and dramatically lower levels of commensal bacteria. Antibiotic treatment affected exacerbated CF microbiota notably but only transiently during the treatment period. Limited decrease of the dominant opportunistic bacteria and a dramatic decrease of commensal bacteria were observed during the antibiotic treatment for CF exacerbation. Simultaneously, low abundance opportunistic bacteria were thriving after the antibiotic treatment. The inefficiency of the current antibiotic treatment against major opportunistic bacteria and the detrimental effects on commensal bacteria indicate that the current empiric antibiotic treatment on CF exacerbation should be reevaluated and optimized.

  5. Fetal Axillary Cystic Hygroma; a case report and review

    Directory of Open Access Journals (Sweden)

    Ecmel Isık

    2011-10-01

    Full Text Available The Cystic Hygroma (CH is a lymphatic malformation occurring different parts of fetal body, typically in the region of the fetal neck and axillary, abdominal wall, mediastinal, inguinal and retroperitoneal areas. CH has been associated with fetal aneuploidy, hydrops fetalis, structural malformations and intrauterine fetal death. A 24-years-old gravida 1, para 1 was admitted to our hospital at 28 weeks of gestation. Ultrasonographic examination determined 28 weeks of gestation, singleton, alive fetus who had a mass derived from the right axillary region which was extending to the anterior and posterior thoracic wall with fluid-filled cavities about 12 cm in size. There was no evidence of intrathorasic or intraabdominal extension of mass. Cordocentesis was performed and karyotype examination was normal 46 XY. The fetal demise was found after the first visit. The patient was delivered vaginally after labor induction with oxytocin infusion. The fetal autopsy confirmed the diagnosis of CH. The fetal CH carries high risk of aneuploidy and fetal malformations. Patients that have been diagnosed with CH in antenatal follow-ups should be assessed in terms of other anomalies. Fetal karyotyping should be done and the patient should be monitored for fetal hydrops. The birth should be planned in a multidisciplinary hospital and as neonatal resuscitation could be needed, pediatricians should be consulted.

  6. Asymptomatic peritoneal carcinomatosis originating from benign cystic peritoneal mesothelioma.

    Science.gov (United States)

    Iacoponi, S; Calleja, J; Hernandez, G; de la Cuesta, R Sainz

    2015-01-01

    Benign multicystic mesothelioma is a rare tumour that originates from the abdominal peritoneum with a predisposition to the pelvic peritoneum. It typically affects women of reproductive age. There have been less than 200 cases of this rare neoplasia reported to date. We present the case of a 35-year-old woman who was referred to our centre because of the detection of a peritoneal carcinomatosis during a gynaecological exam. A diagnostic laparoscopy was performed. The findings included multiple cysts appearing as 'a bunch of grapes' occupying the omentum. Biopsies were taken during the surgery and the results showed benign multicystic peritoneal mesothelioma. Benign multicystic mesothelioma can simulate other conditions, such as malignant ovarian tumours or cystic lymphangioma. It is often diagnosed accidentally during surgery performed for another reason. The diagnosis is interoperative, observing multicystic structures grouped as a 'bunch of grapes' containing clear fluid with thin walls made of connective tissue. Immunohistochemistry confirmed mesothelial origin. Surgery is considered the treatment of choice and is based on the removal of the cysts from the abdominal cavity. Hyperthermic intraperitoneal chemotherapy can be considered as a primary treatment in patients with recurrences or even as a part of primary treatment associated with surgery. Survival at 5 years is 100% and invasive or malignant progression is extraordinary. The treatment approach should be multidisciplinary, and the patient should be referred to a referral centre.

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

    Science.gov (United States)

    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.

  8. Intestinal Bicarbonate Secretion in Cystic Fibrosis Mice

    Directory of Open Access Journals (Sweden)

    Clarke LL

    2001-07-01

    Full Text Available Gene-targeted disruption of the cystic fibrosis transmembrane conductance regulator (CFTR in mice results in an intestinal disease phenotype that is remarkably similar to bowel disease in cystic fibrosis patients. In the intestinal segment downstream from the stomach (i.e., the duodenum, CFTR plays an important role in bicarbonate secretion that protects the epithelium from acidic gastric effluent. In this report, we examine the role of CFTR in cAMP-stimulated bicarbonate secretion in the murine duodenum and the mechanisms of acid-base transport that are revealed in CFTR knockout (CF mice. Ion substitution, channel blocker and pH stat studies comparing duodena from wild-type and CF mice indicate that CFTR mediates a HCO(3(- conductance across the apical membrane of the epithelium. In the presence of a favorable cell-to-lumen HCO(3(- gradient, the CFTR-mediated HCO(3(- current accounts for about 80% of stimulated HCO(3(- secretion. Exposure of the duodenal mucosa to acidic pH reveals another role of CFTR in facilitating HCO(3(- secretion via an electroneutral, 4,4'-diisothiocyanato-stilbene-2,2' disulfonic acid (DIDS sensitive Cl(-/HCO(3(- exchange process. In CF duodenum, other apical membrane acid-base transporters retain function, thereby affording limited control of transepithelial pH. Activity of a Cl(--dependent anion exchanger provides near-constant HCO(3(- secretion in CF intestine, but under basal conditions the magnitude of secretion is lessened by simultaneous activity of a Na(+/H(+ exchanger (NHE. During cAMP stimulation of CF duodenum, a small increase in net base secretion is measured but the change results from cAMP inhibition of NHE activity rather than increased HCO(3(- secretion. Interestingly, a small inward current that is sensitive to the anion channel blocker, 5-nitro-2(3-phenylpropyl amino-benzoate (NPPB, is also activated during cAMP stimulation of the CFTR-null intestine but the identity of the current is yet to be

  9. Treatment of pancreatic cystic neoplasm%胰腺囊性肿瘤的诊治要点

    Institute of Scientific and Technical Information of China (English)

    王亚军; 孙家邦; 李非

    2012-01-01

    Pancreatic cystic neoplasm is mainly divided into three types, serous cystic neoplasm ( SCN ) , mucinous cystic neoplasm (MCN) and intraductal papillary mucinous tumor (IPMN). SCN is mostly benign, rarely malignant, and mostly microcystadenoma. Classic appearance of SCN is honeycomb-like structure. MCN has obvious malignant tendency, mostly larger and separated cyst. The characteristic of IPMN is connection with the pancreatic duct which is usually dilatation. Imaging features of the cyst is the main evidence to identify the type of the cystic tumor. It should also be differentiated from solid pseudopapillary tumor (SPT) and pseudocyst. All the cystic tumors of pancreas, including those already got a clear diagnosis and small lesion without obvious symptoms or smaller IPMN of branch-type, should be treated with surgery. The majority can get long-term survival with complete tumor resection. Specific surgical approach should be based on tumor location, histological type, the relationship with the main pancreatic duct, the surgeon experience and the systemic situation of the patients.%胰腺囊性肿瘤主要分为3类:浆液性囊性肿瘤(serous cystic neoplasm,SCN)、黏液性囊性肿瘤(mucinous cystic neoplasm,MCN)和导管内乳头状黏液性囊腺瘤(intraductal papillary mucinous neoplasm,IPMN).SCN多为良性,恶性罕见,多是微囊腺瘤,典型表现呈蜂巢样结构.MCN有明显的恶性倾向,诊断多为体积较大且有分隔的囊肿.IPMN的特点是囊肿与胰管相通,伴有胰管扩张.囊肿的影像学特征是囊性肿瘤鉴别的主要依据,还应注意与实性假乳头状瘤(solid pseudopapillary tumors,SPT)和假性囊肿相鉴别.除了已经获得的明确诊断、肿瘤较小且无明显症状的SCN或较小的分支型IPMN之外,胰腺囊性肿瘤都应积极手术治疗.肿瘤完整切除的患者多数可以获得长期存活以上肿瘤的.具体手术方式应根据肿瘤所在部位、病理类型、与主胰管的关系、

  10. Mucinous Cystic Adenoma of Ovary in a 15-Year-Old Girl with an Unusual Presentation (A Case Report

    Directory of Open Access Journals (Sweden)

    Allahbakhsh Rahimi

    2010-05-01

    Full Text Available Introduction: Ovarian cysts are relatively rare in children. Mucinous cystadenomas are rarely encountered in adolescent patients and can reach an enormous size. Mural nodules associated with mucinous tumors of the ovary may represent a benign or malignant process."nCase Presentation: Our case was a 15-year-old female, which referred with a painless abdominal distention gradually appearing during six months. There was no specific symptom only mild discomfort of bowel habits with the regular menstruation. On physical examination, there was complete distention of the abdomen without any tenderness. Ultrasonography revealed a large loculated cystic mass in the abdominopelvic cavity, which contained few septations and mural nodules without any vascularity on color Doppler ultrasonography. All other organs appeared normal. On contrast enhanced CT scan, there was a large intra-peritoneal 280×250×170 mm anteriorly located cystic mass which extended from the upper abdomen down to the lower pelvis displacing and compressing adjacent structures posterolaterally. Multiple enhancing septa and two mural nodules were found in the cystic mass. All solid organs appeared normal and no significant adenopathy or ascitis was detected. According to the above findings, omental cysts, adenexal cysts, urachal cysts, mesenteric cysts were our differential diagnosis. A 10 kg mass was resected (an exophytic cyst in the right ovary and histopathology revealed mucinous cystic adenoma of the right ovary with fibrotic mural nodules. No recurrence was detected after one year."nDiscussion: Mucinous cystadenomas are rarely encountered in adolescent patients and can reach an enormous size. The interesting point of this case was not only because of its rarity but also because of its unusual symptomless manifestation and also fibrotic mural nodules."nKeywords: Mucinous Cystic Adenoma, Ovary, Adolescence

  11. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR): CLOSED AND OPEN STATE CHANNEL MODELS.

    Science.gov (United States)

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

    2015-09-18

    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.

  12. The ABC protein turned chloride channel whose failure causes cystic fibrosis

    Science.gov (United States)

    Gadsby, David C.; Vergani, Paola; Csanády, László

    2006-03-01

    CFTR chloride channels are encoded by the gene mutated in patients with cystic fibrosis. These channels belong to the superfamily of ABC transporter ATPases. ATP-driven conformational changes, which in other ABC proteins fuel uphill substrate transport across cellular membranes, in CFTR open and close a gate to allow transmembrane flow of anions down their electrochemical gradient. New structural and biochemical information from prokaryotic ABC proteins and functional information from CFTR channels has led to a unifying mechanism explaining those ATP-driven conformational changes.

  13. The ABC protein turned chloride channel whose failure causes cystic fibrosis.

    Science.gov (United States)

    Gadsby, David C; Vergani, Paola; Csanády, László

    2006-03-23

    CFTR chloride channels are encoded by the gene mutated in patients with cystic fibrosis. These channels belong to the superfamily of ABC transporter ATPases. ATP-driven conformational changes, which in other ABC proteins fuel uphill substrate transport across cellular membranes, in CFTR open and close a gate to allow transmembrane flow of anions down their electrochemical gradient. New structural and biochemical information from prokaryotic ABC proteins and functional information from CFTR channels has led to a unifying mechanism explaining those ATP-driven conformational changes.

  14. A millennial view of cystic fibrosis.

    Science.gov (United States)

    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. .

  15. Economic impact of cystic echinococcosis in peru.

    Directory of Open Access Journals (Sweden)

    Pedro L Moro

    2011-05-01

    Full Text Available BACKGROUND: Cystic echinococcosis (CE constitutes an important public health problem in Peru. However, no studies have attempted to estimate the monetary and non-monetary impact of CE in Peruvian society. METHODS: We used official and published sources of epidemiological and economic information to estimate direct and indirect costs associated with livestock production losses and human disease in addition to surgical CE-associated disability adjusted life years (DALYs lost. FINDINGS: The total estimated cost of human CE in Peru was U.S.$2,420,348 (95% CI:1,118,384-4,812,722 per year. Total estimated livestock-associated costs due to CE ranged from U.S.$196,681 (95% CI:141,641-251,629 if only direct losses (i.e., cattle and sheep liver destruction were taken into consideration to U.S.$3,846,754 (95% CI:2,676,181-4,911,383 if additional production losses (liver condemnation, decreased carcass weight, wool losses, decreased milk production were accounted for. An estimated 1,139 (95% CI: 861-1,489 DALYs were also lost due to surgical cases of CE. CONCLUSIONS: This preliminary and conservative assessment of the socio-economic impact of CE on Peru, which is based largely on official sources of information, very likely underestimates the true extent of the problem. Nevertheless, these estimates illustrate the negative economic impact of CE in Peru.

  16. The genus Prevotella in cystic fibrosis airways.

    Science.gov (United States)

    Field, Tyler R; Sibley, Christopher D; Parkins, Michael D; Rabin, Harvey R; Surette, Michael G

    2010-08-01

    Airway disease resulting from chronic bacterial colonization and consequential inflammation is the leading cause of morbidity and mortality in patients with Cystic Fibrosis (CF). Although traditionally considered to be due to only a few pathogens, recent re-examination of CF airway microbiology has revealed that polymicrobial communities that include many obligate anaerobes colonize lower airways. The purpose of this study was to examine Prevotella species in CF airways by quantitative culture and phenotypic characterization. Expectorated sputum was transferred to an anaerobic environment immediately following collection and examined by quantitative microbiology using a variety of culture media. Isolates were identified as facultative or obligate anaerobes and the later group was identified by 16S rRNA sequencing. Prevotella spp. represented the majority of isolates. Twelve different species of Prevotella were recovered from 16 patients with three species representing 65% of isolates. Multiple Prevotella species were often isolated from the same sputum sample. These isolates were biochemically characterized using Rapid ID 32A kits (BioMérieux), and for their ability to produce autoinducer-2 and beta-lactamases. Considerable phenotypic variability between isolates of the same species was observed. The quantity and composition of Prevotella species within a patients' airway microbiome varied over time. Our results suggest that the diversity and dynamics of Prevotella in CF airways may contribute to airway disease.

  17. Infertility Management in Men with Cystic Fibrosis

    Institute of Scientific and Technical Information of China (English)

    Nikita Rawal; Rafit Gazvani; Roger Mountford

    2009-01-01

    Cystic fibrosis (CF) is a multisystem autosomal recessive disorder. CF has a reported incidence of 1 in 2 500 and a carrier frequency of 1 in 25. It is caused by mutations in a gene located on the long arm of chromosome 7. With almost 50% of patients with CF now in the adult population, and a very high interest in future parenting (78% of men wanting children), there is an increasing need to be proactive in terms of advice about reproductive health. Discussion on reproduction should start in early adolescence and be regularly updated by medical staff. The recent advances in reproductive techniques have allowed the development of sperm aspiration coupled with intra-cytoplasmic sperm injection (ICSI). Spermatozoa can be retrieved from either the epididymis or the testes. Genetic counselling is strongly recommended for both partners when congenital bilateral aplasia of vas deferens (CBA VD) is diagnosed as there is the inevitability of transmitting a mutated CFTR gene, and an increased risk of producing an affected child with serious long-term implications. Most treatment centres, with the introduction of ICSI, routinely screen all males with azoospermia caused by obstruction (other than that caused by vasectomy) or germ cell failure. Protocols usually involve screening for 28 relatively common CFTR mutations. Further advanced testing may be necessary up to a final detection level of approximately 98.5%. Before considering any assisted reproduction treatment, it is pertinent that CF patients receive medical and psychological counselling.

  18. Viruses in cystic fibrosis patients' airways.

    Science.gov (United States)

    Billard, Lisa; Le Berre, Rozenn; Pilorgé, Léa; Payan, Christopher; Héry-Arnaud, Geneviève; Vallet, Sophie

    2017-11-01

    Although bacteria have historically been considered to play a major role in cystic fibrosis (CF) airway damage, a strong impact of respiratory viral infections (RVI) is also now recognized. Emerging evidence confirms that respiratory viruses are associated with deterioration of pulmonary function and exacerbation and facilitation of bacterial colonization in CF patients. The aim of this review is to provide an overview of the current knowledge on respiratory viruses in CF airways, to discuss the resulting inflammation and RVI response, to determine how to detect the viruses, and to assess their clinical consequences, prevalence, and interactions with bacteria. The most predominant are Rhinoviruses (RVs), significantly associated with CF exacerbation. Molecular techniques, and especially multiplex PCR, help to diagnose viral infections, and the coming rise of metagenomics will extend knowledge of viral populations in the complex ecosystem of CF airways. Prophylaxis and vaccination are currently available only for Respiratory syncytial and Influenza virus (IV), but antiviral molecules are being tested to improve CF patients' care. All the points raised in this review highlight the importance of taking account of RVIs and their potential impact on the CF airway ecosystem.

  19. Recombinant antigens for immunodiagnosis of cystic echinococcosis

    Directory of Open Access Journals (Sweden)

    Li Jun

    2004-01-01

    Full Text Available 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.

  20. Economic Impact of Cystic Echinococcosis in Peru

    Science.gov (United States)

    Moro, Pedro L.; Budke, Christine M.; Schantz, Peter M.; Vasquez, Julio; Santivañez, Saul J.; Villavicencio, Jaime

    2011-01-01

    Background Cystic echinococcosis (CE) constitutes an important public health problem in Peru. However, no studies have attempted to estimate the monetary and non-monetary impact of CE in Peruvian society. Methods We used official and published sources of epidemiological and economic information to estimate direct and indirect costs associated with livestock production losses and human disease in addition to surgical CE-associated disability adjusted life years (DALYs) lost. Findings The total estimated cost of human CE in Peru was U.S.$2,420,348 (95% CI:1,118,384–4,812,722) per year. Total estimated livestock-associated costs due to CE ranged from U.S.$196,681 (95% CI:141,641–251,629) if only direct losses (i.e., cattle and sheep liver destruction) were taken into consideration to U.S.$3,846,754 (95% CI:2,676,181–4,911,383) if additional production losses (liver condemnation, decreased carcass weight, wool losses, decreased milk production) were accounted for. An estimated 1,139 (95% CI: 861–1,489) DALYs were also lost due to surgical cases of CE. Conclusions This preliminary and conservative assessment of the socio-economic impact of CE on Peru, which is based largely on official sources of information, very likely underestimates the true extent of the problem. Nevertheless, these estimates illustrate the negative economic impact of CE in Peru. PMID:21629731

  1. Dermatoglyphic Patterns in Cystic Fibrosis Children

    Science.gov (United States)

    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

  2. [Italian Cystic Fibrosis Register - Report 2010].

    Science.gov (United States)

    Amato, Annalisa; Ferrigno, Luigina; Salvatore, Marco; Toccaceli, Virgilia

    2016-01-01

    The Italian National CF Registry (INCFR) is based on the official agreement between the clinicians of the Italian National Referral Centers for Cystic Fibrosis and the researchers of the Istituto Superiore di Sanità (National Center for Rare Diseases; National Center for Epidemiology, Surveillance and Health Care Promotion). OBJECTIVES The main aim of INCFR is to contribute to the improvement in CF patients health care and clinical management through: i. the estimates of CF prevalence and incidence in Italy; ii. the analyses of medium and long term clinical and epidemiological trends of the disesase; iii. the identification of the main health care needs at regional and national level to contribute to the Health Care programmes and to the distribution of resources. MATERIALS AND METHODS Analyses and results described in the present Report are referred to patients in charge to the Italian National Referral Centers for Cystic Fibrosis in 2010. Data were sent by Centers by means of a specific software (Camilla, Ibis Informatica). The Italian National Referral Centers for Cystic Fibrosis sent a total of 5,271 individual records; 1,112 records were excluded from the analyses due to restricted inclusion criteria. The total number of patients included in INCFR for analyses is 4,159. RESULTS INCFR database includes all prevalent cases at 1th January 2010 as well as all new diagnoses done in 2010. The present Report has been organized into 9 sections. 1. Demography: estimated 2010 CF prevalence was 7/100,000 residents in Italy; 52% of the patients were male, CF distribution showed higher frequency in patients aged 7 to 35 years. In 2010, 48.9% of the patients were more than 18 years old. 2. Diagnoses: most of the CF patients were diagnosed before two years of age (66.7%); a significant percentage of patients (11.4%) was diagnosed in adult-age. 3. New diagnoses (2010): new diagnoses were 168. Sixty-five percent of them was diagnosed before the second year of age and 17%in

  3. Colonic Disorders in Adult Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Hugh Chaun

    2001-01-01

    Full Text Available By 1996, the median survival of patients with cystic fibrosis (CF in North America had increased to 31 years. With the markedly improved life expectancy, many CF patients are now adults. There is an associated increased risk of certain colonic disorders, and the emergence of other previously unrecognized disorders, in adult CF patients. The distal intestinal obstruction syndrome (DIOS, which is more common in older patients, is a frequent cause of abdominal pain. Intussusception may complicate DIOS; other differential diagnoses include appendiceal disease, volvolus, Crohn's disease, fibrosing colonopathy and colonic carcinoma. The diagnosis of acute appendicitis, although uncommon in patients with CF, is often delayed, and appendiceal abscess is a frequent complication. The prevalence of Crohn's disease in CF has been shown to be 17 times that of the general population. Right-sided microscopic colitis is a recently recognized entity in CF of uncertain clinical significance. Fibrosing colonopathy has been confined mostly to children with CF, attributed to the use of high strength pancreatic enzyme supplements, but it has been reported in three adults. Nine cases of carcinoma of the large intestine have been reported worldwide, associated with an apparent excess risk of digestive tract cancers in CF. Despite high carrier rates of Clostridium difficile in patients with CF, pseudomembranous colitis is distinctly rare, but severe cases complicated by toxic megacolon have been reported. In these patients, watery diarrhea is often absent. Adult CF patients with refractory or unexplained intestinal symptoms merit thorough investigations.

  4. Vitamin K status in cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Patrycja Krzyżanowska

    2010-12-01

    Full Text Available Vitamin K belongs to the family of fat-soluble vitamins and plays an important role in hemostasis, bone metabolism and may affect cerebral sphingolipid synthesis. It is a cofactor necessary for posttranslational γ-carboxylation of glutamyl residues in selected proteins such as the osteocalcin, and procoagulation factors II, VII, IX, X. Vitamin K deficient individuals appear to have more undercarboxylated proteins, which are functionally defective. The vitamin K deficiency has been frequently documented in patients with cystic fibrosis. The main possible causes of this deficiency include: fat malabsorption due to pancreatic exocrine insufficiency, cholestatic or  noncholestatic liver disease, reduced production of vitamin K by colonic flora related to chronic antibiotic treatments, bowel resections and increased mucous accumulation in the bowel. CF patients are more prone to osteopenia, caused by chronic vitamin K shortage, than to coagulopathy. Despite available evidence, which strongly suggests that all CF patients are at risk for developing vitamin K deficiency, its supplementation doses have not been established. Recent recommendations from Europe and the UK have suggested varied doses ranging from 0.3 mg/day to 10 mg/week. Further studies, both cross sectional and longitudinal interventional, are still required to determine routine and therapeutic supplementation doses.

  5. The cystic fibrosis lower airways microbial metagenome

    Science.gov (United States)

    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

  6. Asthma and cystic fibrosis: A tangled web.

    LENUS (Irish Health Repository)

    Kent, Brian D

    2014-03-01

    Successfully diagnosing concomitant asthma in people with cystic fibrosis (CF) is a challenging proposition, and the utility of conventional diagnostic criteria of asthma in CF populations remains uncertain. Nonetheless, the accurate identification of individuals with CF and asthma allows appropriate tailoring of therapy, and should reduce the unnecessary use of asthma medication in broader CF cohorts. In this review, we discuss the diagnostic challenge posed by asthma in CF, both in terms of clinical evaluation, and of interpretation of pulmonary function testing and non-invasive markers of airway inflammation. We also examine how the role of cross-sectional thoracic imaging in CF and asthma can assist in the diagnosis of asthma in these patients. Finally, we critically appraise the evidence base behind the use of asthma medications in CF populations, with a particular focus on the use of inhaled corticosteroids and bronchodilators. As shall be discussed, the gaps in the current literature make further high-quality research in this field imperative. Pediatr Pulmonol. 2014; 49:205-213. © 2014 Wiley Periodicals, Inc.

  7. Lentiviral Vectors and Cystic Fibrosis Gene Therapy

    Science.gov (United States)

    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

  8. Abdominal manifestations of cystic fibrosis in children

    Energy Technology Data Exchange (ETDEWEB)

    Chaudry, Gulraiz; Navarro, Oscar M.; Levine, Daniel S.; Oudjhane, Kamaldine [University of Toronto, Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON (Canada)

    2006-03-15

    Pulmonary complications remain the main cause of mortality in cystic fibrosis, but the presenting symptoms in children are often related to gastrointestinal or pancreaticobiliary disease. Furthermore, abdominal manifestations are now seen throughout childhood, from infancy to adolescence. The child might present in the neonatal period with meconium ileus or its attendant complications. The older child might present with distal intestinal obstruction syndrome or colonic stricture secondary to high doses of pancreatic enzyme replacement. Less-common gastrointestinal manifestations include intussusception, duodenitis and fecal impaction of the appendix. Most children also show evidence of exocrine pancreatic deficiency. Radiologically, the combination of fat deposition and pancreatic fibrosis leads to varying CT and MR appearances. A higher than normal incidence of pancreatic cysts and calcification is also seen. Decreased transport of water and chloride also increases the viscosity of bile, with subsequent obstruction of the biliary ductules. If extensive, this can progress to obstructive cirrhosis, portal hypertension and esophageal varices. Diffuse fatty infiltration, hypersplenism and gallstones are also commonly seen in these patients. We present a pictorial review of the radiological appearance of these abdominal manifestations. The conditions are dealt with individually, together with typical appearances in various imaging modalities. (orig.)

  9. Sex Disparities in Effects of Cystic Fibrosis-Related Diabetes on Clinical Outcomes: A Matched Study

    Directory of Open Access Journals (Sweden)

    Robert J Miller

    2008-01-01

    Full Text Available BACKGROUND: Cystic fibrosis-related diabetes (CFRD is an increasingly prevalent comorbidity factor for patients with cystic fibrosis (CF. CFRD has been associated with an accelerated decline in clinical parameters and an increased mortality rate.

  10. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma

    DEFF Research Database (Denmark)

    Dahl, Morten; Tybjaerg-Hansen, A; Lange, P;

    1998-01-01

    Cystic fibrosis is a recessive disorder mainly characterised by lung disease. We tested the hypothesis that individuals heterozygous for the common cystic fibrosis deltaF508 mutation are at risk of obstructive pulmonary disease....

  11. Conception rate in Holstein dairy cows having both normal sized follicles and cystic follicles at estrus

    Directory of Open Access Journals (Sweden)

    K. Kaneko

    2016-09-01

    Conclusion: These results support artificially inseminated of cows that show clear signs of estrus even if they have both cystic follicles and normal sized follicles, and especially when the cows have only one cystic follicle.

  12. Lymphoepithelial cysts and cystic lymphangiomas: Underrecognized benign cystic lesions of the pancreas

    Institute of Scientific and Technical Information of China (English)

    Ioannis; T; Konstantinidis; Avinash; Kambadakone; Onofrio; A; Catalano; Dushyant; V; Sahani; Vikram; Deshpe; David; G; Forcione; Jennifer; A; Wargo; Carlos; Fernandez-del; Castillo; Keith; D; Lillemoe; Andrew; L; Warshaw; Cristina; R; Ferrone

    2014-01-01

    AIM: To identify their diagnostic and prognostic clinical characteristics in a large series.METHODS: Retrospective review of clinicopathologic and imaging characteristics of patients diagnosed with lymphoepithelial cysts and cystic lymphangiomas of the pancreas at Massachusetts General Hospital.RESULTS: Twelve patients were identified between 1/1/1997 and 8/1/2007. Their median age was 55.5 years(range 19-78 years), and 6 were females. The le-sion was incidentally discovered in half of the patients.Contrast enhanced computed tomography demonstrat-ed that the cysts had thin walls, without calcifications, pancreatic duct dilation or pancreatic parenchyma inva-sion. Endoscopic ultrasound with fine needle aspiration(EUS/FNA) confirmed the diagnosis of a lymphoepithe-lial cyst in 3 patients, one of whom was spared an op-eration and continues to do well after 6 years. Eleven patients had a resection: 3 pancreaticoduodenecto-mies, 7 distal pancreatectomies, and 1 enucleation. The median size of the cysts was 3 cm(range 2-20 cm). At a median follow-up of 57 mo no recurrences or other pancreas-related conditions occurred.CONCLUSION: Lymphoepithelial cysts and cystic lymphangiomas of the pancreas can be diagnosed with a combination of contrast-enhanced computed tomog-raphy scans and EUS/FNA. If the lesion is asymptom-atic, an operation might be avoided.

  13. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Nico Derichs

    2013-03-01

    Full Text Available Cystic fibrosis (CF is caused by genetic mutations that affect the cystic fibrosis transmembrane conductance regulator (CFTR protein. These mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells, as well as influencing the gating or conductance of chloride and bicarbonate ions through the channel. CFTR dysfunction results in ionic imbalance of epithelial secretions in several organ systems, such as the pancreas, gastrointestinal tract, liver and the respiratory system. Since discovery of the CFTR gene in 1989, research has focussed on targeting the underlying genetic defect to identify a disease-modifying treatment for CF. Investigated management strategies have included gene therapy and the development of small molecules that target CFTR mutations, known as CFTR modulators. CFTR modulators are typically identified by high-throughput screening assays, followed by preclinical validation using cell culture systems. Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation. The clinical development of ivacaftor not only represents a breakthrough in CF care but also serves as a noteworthy example of personalised medicine.

  14. 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

    NARCIS (Netherlands)

    Floto, R.A.; Olivier, K.N.; Saiman, L.; Daley, C.L.; Herrmann, J.L.; Nick, J.A.; Noone, P.G.; Bilton, D.; Corris, P.; Gibson, R.L.; Hempstead, S.E.; Koetz, K.; Sabadosa, K.A.; Sermet-Gaudelus, I.; Smyth, A.R.; Ingen, J. van; Wallace, R.J.; Winthrop, K.L.; Marshall, B.C.; Haworth, C.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

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

    Science.gov (United States)

    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.

  16. Wnt and planar cell polarity signaling in cystic renal disease.

    Science.gov (United States)

    Goggolidou, Paraskevi

    2014-01-01

    Cystic kidney diseases can cause end stage renal disease, affecting millions of individuals worldwide. They may arise early or later in life, are characterized by a spectrum of symptoms and can be caused by diverse genetic defects. The primary cilium, a microtubule-based organelle that can serve as a signaling antenna, has been demonstrated to have a significant role in ensuring correct kidney development and function. In the kidney, one of the signaling pathways that requires the cilium for normal development is Wnt signaling. In this review, the roles of primary cilia in relation to canonical and non-canonical Wnt/PCP signaling in cystic renal disease are described. The evidence of the associations between cilia, Wnt signaling and cystic renal disease is discussed and the significance of planar cell polarity-related mechanisms in cystic kidney disease is presented. Although defective Wnt signaling is not the only cause of renal disease, research is increasingly highlighting its importance, encouraging the development of Wnt-associated diagnostic and prognostic tools for cystic renal disease.

  17. Incidental finding of malignant renal cystic tumour diagnosed sonographically

    Directory of Open Access Journals (Sweden)

    Stojanović Milan

    2008-01-01

    Full Text Available Introduction Malignant cystic renal tumor is a rare variant of renal malignancy. Cystic neoplasm results from haemorrhage, necrosis and colliquation of a solid tumour or tumour occurring within the wall of a cyst. That pathoanatomic substratum reflects characteristic sonographic features indicating its malignant nature. It is important to distinguish a simple cyst (not requiring surgery from intracystic malignant lesion because it requires surgery. Case Outline The authors present a 59-year-old woman with a sonographic finding of a simple cyst in the upper pole of the right kidney revealed during gynaecological ultrasonography. Immediately afterwards, the radiologist performed renal sonography and its finding was a cystic lesion suggestive of malignancy. Further evaluation by CT scan showed that the lesion was clearly malignant. After surgery, the histological finding verified cystic renal cancer. Conclusion Ultrasonography may reveal a complex cyst and solid mass but requires an experienced sonographer. Contrast CT scan would be performed to examine the "suspicious" lesion because it clearly shows if a cystic lesion is benign or malignant. .

  18. OK-432 sclerotherapy for benign cystic head and neck lesions

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Chang Hyun; Rho, Myung Ho; Lee, Sang Wook [Masan Samsung Hospital, Masan (Korea, Republic of)

    2003-12-01

    To evaluate the efficacy of OK-432 solution for slerotheraphy of cystic lesions of the head and neck. Nineteen cystic lesions comprising ten plunging ranulas, three simple ranulas, three cystic lymphangiomas, one first branchial cleft cyst and two unknown supraclavicular cysts considered to be lymphangiomas were treated by sucking out as much liquid content as possible and then injecting the same volume of OK-432 solution under ultrasound guidance. Patients were followed up clinically and radiologically. Follow-up sonography or CT- performed after a mean interval of nine months showed total or near-total shrinkage of four plunging ranulas. However, six such lesions recurred in spite of more than one (mean, two) sclerotherapy sessions. In cases involving two simple ranulas at the floor of the mouth, failure resulted from extracystic leakage of OK-432 solution via the puncture site. Two unilocular cystic lymphangiomas completely regressed during the follow-up period (mean, seven months), but the multiocular type showed a 65% volume reduction after 12 months. A first branchial cleft cyst was markedly reduced in size, with only a small cystic portion remaining after eight months, follow-up. Two supraclavicular cysts with straw-color fluid did not respond to sclerotherapy. OK-432 sclerotherapy of macrocystic lymphangiomas is an effective and promising alternative to surgery. For other cysts, however, including plunging ranula, efficacy, varied, and 64% of such lesions recurred.

  19. NEONATAL JAUNDICE – A RARE FORM OF CYSTIC FIBROSIS

    Directory of Open Access Journals (Sweden)

    Nataša Milivojevič

    2003-04-01

    Full Text Available Background. Cystic fibrosis is an autosomal recessive disorder that results in damage to organs containing secretory epithelial cells. It predominantly affects respiratory tract and pancreatic function. While hepatobiliary system is frequently affected in older children with cystic fibrosis, in neonatal period jaundice caused by cystic fibrosis is a rare condition. Two cases were identified in the last ten years (1988–98 in the Department of Pediatrics University Medical Centre Ljubljana.Patients and methods. We present two patients with neonatal jaundice as one of the rare features of cystic fibrosis. Laboratory evidences of cholestasis and liver involvement were present in both cases. In the first case, an improvement of a liver disease occured spontaneously and in the second case the resolution of clinical and laboratory evidence of liver disease followed after she had been treated with ursodeoxycholic acid.Conclusions. Neonatal jaundice and cholestasis can be caused by cystic fibrosis. The treatment is conservative with ursodeoxycholic acid. Only in the cases when the disease is not improving conservatively, the surgical procedure can be considered.

  20. Draft genome sequences of four Achromobacter ruhlandii strains isolated from cystic fibrosis patients

    Science.gov (United States)

    Rodrigues, Elenice RA; Rocha, Géssica A; Ferreira, Alex G; Leão, Robson S; Albano, Rodolpho M; Marques, Elizabeth A

    2016-01-01

    Achromobacter species are being increasingly isolated from the respiratory tract of cystic fibrosis patients. Recent reports indicate that Achromobacter ruhlandii is a potential human pathogen in cystic fibrosis-related infections. Here we report the draft genome of four A. ruhlandii strains isolated from cystic fibrosis patients in Brazil. This report describes A. ruhlandii as a potential opportunistic pathogen in cystic fibrosis and provides a framework to for additional enquires into potential virulence factors and resistance mechanisms within this species. PMID:27812598

  1. Phagocytosis of Pseudomonas aeruginosa by polymorphonuclear leukocytes and monocytes: effect of cystic fibrosis serum.

    OpenAIRE

    Thomassen, M J; Demko, C A; Wood, R.E.; Sherman, J. M.

    1982-01-01

    It has been shown previously that serum from chronically infected patients with cystic fibrosis inhibits the phagocytosis of Pseudomonas aeruginosa by both normal and cystic fibrosis alveolar macrophages. In the present study, the ability of peripheral monocytes and polymorphonuclear leukocytes from normal volunteers and cystic fibrosis patients to phagocytize P. aeruginosa was shown not to be inhibited in the presence of serum from cystic fibrosis patients.

  2. Percutaneous puncture of spinal cysts in the diagnosis and therapy of syringomyelia and cystic tumors

    Energy Technology Data Exchange (ETDEWEB)

    Dietemann, J.L.; Babin, E.; Wackenheim, A.; Maitrot, D.; Bonneville, J.F.

    1982-10-01

    The experience with percutaneous puncture of intraspinal cystic lesions is reported in cases: an extradural cyst demonstrated with air, a spinal cord tumor with lipiodol and two cases of syringomyelia with metrizamide. Percutaneous puncture of cystic lesions makes possible an accurate delineation of the lesion and a histological approach through biochemical and cytological analysis of the aspirated cystic fluid, while aspiration of the fluid of cystic tumors decompresses the spinal cord and thus plays a therapeutic role.

  3. Cystic fibrosis transmembrane conductance regulator chloride channel blockers: Pharmacological, biophysical and physiological relevance

    Institute of Scientific and Technical Information of China (English)

    Paul; Linsdell

    2014-01-01

    Dysfunction of the cystic fibrosis transmembrane con-ductance regulator(CFTR) chloride channel causes cys-tic fibrosis, while inappropriate activity of this channeloccurs in secretory diarrhea and polycystic kidney dis-ease. Drugs that interact directly with CFTR are there-fore of interest in the treatment of a number of diseasestates. This review focuses on one class of small mol-ecules that interacts directly with CFTR, namely inhibi-tors that act by directly blocking chloride movementthrough the open channel pore. In theory such com-pounds could be of use in the treatment of diarrheaand polycystic kidney disease, however in practice allknown substances acting by this mechanism to inhibitCFTR function lack either the potency or specificity forin vivo use. Nevertheless, this theoretical pharmaco-logical usefulness set the scene for the developmentof more potent, specific CFTR inhibitors. Biophysically,open channel blockers have proven most useful as ex-perimental probes of the structure and function of theCFTR chloride channel pore. Most importantly, the useof these blockers has been fundamental in developing afunctional model of the pore that includes a wide innervestibule that uses positively charged amino acid sidechains to attract both permeant and blocking anionsfrom the cell cytoplasm. CFTR channels are also subjectto this kind of blocking action by endogenous anionspresent in the cell cytoplasm, and recently this blocking effect has been suggested to play a role in the physio-logical control of CFTR channel function, in particular as a novel mechanism linking CFTR function dynamically to the composition of epithelial cell secretions. It has also been suggested that future drugs could target this same pathway as a way of pharmacologically increasing CFTR activity in cystic fibrosis. Studying open channel blockers and their mechanisms of action has resulted in significant advances in our understanding of CFTR as a pharmacological target in disease states, of

  4. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Science.gov (United States)

    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...

  5. Cystic fibrosis and pregnancy: counseling, obstetrical management and perinatal outcome.

    Science.gov (United States)

    Grigoriadis, Charalampos; Tympa, Aliki; Theodoraki, Kassiani

    2015-03-01

    The progress in research of in vitro fertilization and fetal-maternal medicine allows more women and men, with fertility problems due to cystic fibrosis, to have a baby. In the majority of cases, pregnancy in women with cystic fibrosis results in favorable maternal and fetal outcomes. However, the incidence of preterm delivery, intrauterine growth restriction, caesarean section and deterioration of the maternal health are increased. Pre-pregnancy counseling is a crucial component of overall obstetric care, especially in women with poor pulmonary function. Additionally, closer monitoring during pregnancy with a multidisciplinary approach is required. The value of serial ultrasound scans and fetal Doppler assessment is important for the control of maternal and fetal wellbeing, as well as for the definition of the appropriate timing of delivery. In this article, clinical issues of pregnant women with cystic fibrosis are reviewed; counseling, obstetrical management and perinatal outcomes are being discussed.

  6. Vaccine strategies against bacterial pathogens in cystic fibrosis patients.

    Science.gov (United States)

    Le Moigne, V; Gaillard, J-L; Herrmann, J-L

    2016-02-01

    A large number of cystic fibrosis pathogens such as bacteria of the Burkholderia cepacia complex, Pseudomonas aeruginosa, or Mycobacterium abscessus are associated with complex therapeutic problems due to their inherent resistance to antibiotics. No vaccine is currently available against those pathogens. Vaccines are therefore crucial to combat these multidrug-resistant bacteria in specific clinical situations including cystic fibrosis. Various strategies may be considered to develop these vaccines. Similar virulence factors are expressed during the infection with various pathogens; they could thus be used as antigen to assess cross-protection. Many clinical trials are currently being conducted to try and develop a prophylactic treatment for patients presenting with cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  7. Prenatal diagnosis of cystic fibrosis: 10-years experience.

    Science.gov (United States)

    Hadj Fredj, S; Ouali, F; Siala, H; Bibi, A; Othmani, R; Dakhlaoui, B; Zouari, F; Messaoud, T

    2015-06-01

    We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  8. Hypertonic saline in treatment of pulmonary disease in cystic fibrosis.

    LENUS (Irish Health Repository)

    Reeves, Emer P

    2012-01-01

    The pathogenesis of lung disease in cystic fibrosis is characterised by decreased airway surface liquid volume and subsequent failure of normal mucociliary clearance. Mucus within the cystic fibrosis airways is enriched in negatively charged matrices composed of DNA released from colonizing bacteria or inflammatory cells, as well as F-actin and elevated concentrations of anionic glycosaminoglycans. Therapies acting against airway mucus in cystic fibrosis include aerosolized hypertonic saline. It has been shown that hypertonic saline possesses mucolytic properties and aids mucociliary clearance by restoring the liquid layer lining the airways. However, recent clinical and bench-top studies are beginning to broaden our view on the beneficial effects of hypertonic saline, which now extend to include anti-infective as well as anti-inflammatory properties. This review aims to discuss the described therapeutic benefits of hypertonic saline and specifically to identify novel models of hypertonic saline action independent of airway hydration.

  9. Myxoid liposarcoma presenting like a cystic neck swelling

    Directory of Open Access Journals (Sweden)

    Harmeet Sahni

    2015-05-01

    Full Text Available Soft tissue sarcomas are rare and unusual neoplasm's, accounting for approximately 1% of adult human cancers and 15% of pediatric malignancies. Most liposarcomas occur in deep soft tissues of the extremities and retroperitoneum; only a very small percentage (as low as 2% occurs in the head and neck. Here we present a case of a 48yr old male with a painless mass in the neck clinically presenting as a cystic swelling. The CT neck was suggestive of cystic lesion in the neck representing benign cystic lesion. The swelling was excised and sent for histopathology which was suggestive of myxoid liposarcoma. The patient was planned for wide excision of the edges and scar and adjuvant chemo and radio therapy. [Int J Res Med Sci 2015; 3(5.000: 1281-1284

  10. Night blindness in a teenager with cystic fibrosis.

    LENUS (Irish Health Repository)

    Roddy, Marie Frances

    2011-12-01

    This article describes the case of a 16-year-old boy with cystic fibrosis who presented with difficulty seeing in the dark. He had a history of bowel surgery at birth, and he developed cystic fibrosis liver disease and osteopenia during his teenage years. He always had good lung function. When his serum vitamin A level was checked, it was undetectable in sample. He was diagnosed with night blindness and commenced on high-dose vitamin A. His symptoms resolved within 3 days. However, it took over 1 year for his vitamin A level to return to normal. This case emphasizes the importance of monitoring vitamin levels in cystic fibrosis to detect deficiency and prevent long-term consequences, and it highlights the challenges encountered during the course of night blindness treatment.

  11. Intraductal papillary mucinous neoplasms and other pancreatic cystic lesions

    Institute of Scientific and Technical Information of China (English)

    Hugh James Freeman

    2008-01-01

    Pancreatic cystic neoplasms are being increasingly recognized, even in the absence of symptoms, in large part, due to markedly improved imaging modalities such as magnetic resonance imaging (MRI)/magnetic resonance cholangio pancreatography (MRCP) and computer tomography (CT) scanning. During the past 2 decades, better imaging of these cystic lesions has resulted in definition of different types, including pancreatic intraductal papillary mucinous neoplasms (IPMN). While IPMN represent only a distinct minority of all pancreatic cancers, they appear to be a relatively frequent neoplastic form of pancreatic cystic neoplasm. Moreover, IPMN have a much better outcome and prognosis compared to pancreatic ductal adenocarcinomas. Therefore, recognition of this entity is exceedingly important for the clinician involved in diagnosis and further evaluation of a potentially curable form of pancreatic cancer.

  12. An atypical presentation of cystic fibrosis: a case report

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    Joshi Deepak

    2008-06-01

    Full Text Available Abstract Introduction The presentation of cystic fibrosis is dependant upon which organs are affected. Common presentations include chronic respiratory infections and malabsorption. Patients with atypical disease tend to present late in childhood or as adults. Eye manifestations of cystic fibrosis are less well known. Case presentation A 14-year-old Caucasian boy presented with tiredness and difficulty seeing at night, over a period of 6 months. Good vision was only described in bright conditions. There was no history of jaundice, steatorrhea or diarrhoea. Conclusion This is the first reported case of newly diagnosed cystic fibrosis-related liver disease in a teenage boy, whose presenting symptom was night blindness secondary to vitamin A deficiency.

  13. Hypertonic Saline in Treatment of Pulmonary Disease in Cystic Fibrosis

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    Emer P. Reeves

    2012-01-01

    Full Text Available The pathogenesis of lung disease in cystic fibrosis is characterised by decreased airway surface liquid volume and subsequent failure of normal mucociliary clearance. Mucus within the cystic fibrosis airways is enriched in negatively charged matrices composed of DNA released from colonizing bacteria or inflammatory cells, as well as F-actin and elevated concentrations of anionic glycosaminoglycans. Therapies acting against airway mucus in cystic fibrosis include aerosolized hypertonic saline. It has been shown that hypertonic saline possesses mucolytic properties and aids mucociliary clearance by restoring the liquid layer lining the airways. However, recent clinical and bench-top studies are beginning to broaden our view on the beneficial effects of hypertonic saline, which now extend to include anti-infective as well as anti-inflammatory properties. This review aims to discuss the described therapeutic benefits of hypertonic saline and specifically to identify novel models of hypertonic saline action independent of airway hydration.

  14. Multicystic Benign Cystic Mesothelioma Presenting as a Pelvic Mass

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    Mazdak Momeni

    2014-01-01

    Full Text Available Background. Benign cystic mesothelioma (BCM is a rare tumor that arises from the abdominal peritoneum with a predilection to the pelvic peritoneum. For this reason, it can often mimic gynecologic malignancies. Case. A 47-year-old perimenopausal female presented reporting several weeks of abdominal distention associated with abdominal tenderness and constipation. Computed tomography revealed a 24 cm multiloculated pelvic mass, and tumor markers were notable for an elevated CA-125. The patient was taken to the operating room for an exploratory laparotomy, total abdominal hysterectomy, bilateral salpingoophorectomy, and removal of pelvic mass. Final pathologic evaluation revealed a benign cystic mesothelioma. Conclusion. Classically these tumors present as large multicystic masses with thin-walled septations and on preoperative evaluation BCM can mimic many different disease entities including ovarian malignancies and cystic lymphangioma. Often diagnosis can only be made at time of surgery.

  15. Multicystic benign cystic mesothelioma presenting as a pelvic mass.

    Science.gov (United States)

    Momeni, Mazdak; Pereira, Elena; Grigoryan, Gennadiy; Zakashansky, Konstantin

    2014-01-01

    Background. Benign cystic mesothelioma (BCM) is a rare tumor that arises from the abdominal peritoneum with a predilection to the pelvic peritoneum. For this reason, it can often mimic gynecologic malignancies. Case. A 47-year-old perimenopausal female presented reporting several weeks of abdominal distention associated with abdominal tenderness and constipation. Computed tomography revealed a 24 cm multiloculated pelvic mass, and tumor markers were notable for an elevated CA-125. The patient was taken to the operating room for an exploratory laparotomy, total abdominal hysterectomy, bilateral salpingoophorectomy, and removal of pelvic mass. Final pathologic evaluation revealed a benign cystic mesothelioma. Conclusion. Classically these tumors present as large multicystic masses with thin-walled septations and on preoperative evaluation BCM can mimic many different disease entities including ovarian malignancies and cystic lymphangioma. Often diagnosis can only be made at time of surgery.

  16. Large mucinous cystic neoplasm of the pancreas associated with pregnancy

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Mucinous cystic neoplasms (MCNs) of the pancreas occur mostly in females and are potentially sex hormone-sensitive. However, a MCN occurring during pregnancy is quite rare. A 30-year-old woman in the tenth week of pregnancy was referred to us because of a rapid increase in lett hypochondrial distending pain. On ultrasound, the patient had a large intra-abdominal cystic lesion. She was thereafter diagnosed with missed abortion and a computed tomography scan showed that the lesion was a cystic tumor 18 cm in diameter originating from the pancreatic tail. The patient subsequently underwent tumor resection with distal pancreatectomy, sparing the spleen. Histopathological analysis of the specimen revealed a pancreatic MCN with moderate dysplasia. Immunohistochemically, the tumor was positive for both estrogen and progesterone receptors. To our knowledge, this is the first reported case of pancreatic MCN with moderate zysplasia in association with pregnancy. Our case strongly indicates that pancreatic MCN is female-hormone dependent.

  17. Biopsy results of Bosniak 2F and 3 cystic lesions

    DEFF Research Database (Denmark)

    Rasmussen, René; Hørlyck, Arne; Nielsen, Tommy Kjærgaard

    Purpose: The distinction between benign and malignant complex cystic renal lesions remains a challenge. Bosniak 2F lesions are often followed with repeated CT for a minimum of five years, often entailing a high exposure to radiation. The aim of the present study was to evaluate whether biopsy could...... be helpful in clinical decisions. Material and Methods: From March 2013 - December 2014 a total of 295 percutaneous ultrasound guided biopsies from 287 patients with a suspected malignant renal lesion were performed at our institution. All cases were reviewed in PACS by (RR) and lesions presenting...... with a cystic change were re-evaluated and re-categorized after the Bosniak classification system. The re-evaluation and re-categorization was performed in consensus by a junior radiologist (RR) and an uro-radiological expert (OG). Results: Biopsies from eighteen Bosniak 2F cystic lesions were pathologically...

  18. Surgical pathology of cystic lesions of the mediastinum.

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    Petkar M

    2001-10-01

    Full Text Available BACKGROUND: Mediastinal cysts are uncommonly encountered in a pathologist′s experience. AIMS: To study the incidence, location, clinical presentation and histologic subtypes of cysts in the mediastinum. MATERIALS and METHODS: Cystic lesions of the mediastinum, surgically excised over a period of 22 years were studied after retrieval of relevant clinical data and slides. RESULTS: Thirty-nine mediastinal cysts were encountered in the study period. Most of the patients (81.5 % were symptomatic. Histologically, foregut cysts (19 cases, 50 % were the most common followed by teratomatous cysts (ten cases, 26.3 % and thymic cysts (four cases, 10.5 %. Bronchogenic cysts represented 63 % of the fore-gut cysts. Unusual lesions in the form of cystic mediastinal tuberculous lymphadenitis and cystic schwannoma were seen in three patients. CONCLUSIONS: Despite varied location and histology, clinical presentation of mediastinal cysts are similar. Surgical intervention is the preferred line of management.

  19. Intrathoracic cystic hygroma with sudden respiratory distress mimicking pneumonia

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    Umesh Goneppanavar

    2012-01-01

    Full Text Available Benign cystic lesions such as cystic hygroma commonly manifest as progressively increasing swelling in the neck with or without compression effects. Rarely, they present with sudden respiratory distress in instances such as infection or haematoma resulting in a sudden increase in the size of the tumour. We present a seven month old child with sudden onset respiratory distress without any obvious neck swelling. The chest X ray findings correlated with the history and were suggestive of right upper lobe pneumonia that leads to a wrong diagnosis of aspiration pneumonia. However, presence of a deviated trachea in the neck raised a suspicion of possible mass. Computed tomogram showed a large cystic mass in the right upper mediastinum with tracheal collapse. We caution intensivists and paediatricians that sudden respiratory distress in infants in the absence of obvious neck swelling does not rule out possibility of intrathoracic tumour.

  20. Mechanisms of the noxious inflammatory cycle in cystic fibrosis

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    Freyssinet Jean-Marie

    2009-03-01

    Full Text Available Abstract Multiple evidences indicate that inflammation is an event occurring prior to infection in patients with cystic fibrosis. The self-perpetuating inflammatory cycle may play a pathogenic part in this disease. The role of the NF-κB pathway in enhanced production of inflammatory mediators is well documented. The pathophysiologic mechanisms through which the intrinsic inflammatory response develops remain unclear. The unfolded mutated protein cystic fibrosis transmembrane conductance regulator (CFTRΔF508, accounting for this pathology, is retained in the endoplasmic reticulum (ER, induces a stress, and modifies calcium homeostasis. Furthermore, CFTR is implicated in the transport of glutathione, the major antioxidant element in cells. CFTR mutations can alter redox homeostasis and induce an oxidative stress. The disturbance of the redox balance may evoke NF-κB activation and, in addition, promote apoptosis. In this review, we examine the hypotheses of the integrated pathogenic processes leading to the intrinsic inflammatory response in cystic fibrosis.

  1. Cystic Fibrosis in the African Diaspora.

    Science.gov (United States)

    Stewart, Cheryl; Pepper, Michael S

    2017-01-01

    Identifying mutations that cause cystic fibrosis (CF) is important for making an early, unambiguous diagnosis, which, in turn, is linked to better health and a greater life expectancy. In patients of African descent, a molecular diagnosis is often confounded by the fact that the majority of investigations undertaken to identify causative mutations have been conducted on European populations, and CF-causing mutations tend to be population specific. We undertook a survey of published data with the aim of identifying causative CF mutations in patients of African descent in the Americas. We found that 1,584 chromosomes had been tested in only 6 countries, of which 876 alleles (55.3%) still remained unidentified. There were 59 mutations identified. Of those, 41 have been shown to cause CF, 17 have no associated functional studies, and one (R117H) is of varying clinical consequence. The most common mutations identified in the patients of African descent were: ΔF508 (29.4% identified in the United States, Colombia, Brazil, and Venezuela); 3120 + 1G>A (8.4% identified in Brazil, the United States, and Colombia); G85E (3.8% identified in Brazil); 1811 + 1.6kbA>G (3.7% identified in Colombia); and 1342 - 1G>C (3.1% identified in the United States). The majority of the mutations identified (81.4%) have been described in just one country. Our findings indicate that there is a need to fully characterize the spectrum of CF mutations in the diaspora to improve diagnostic accuracy for these patients and facilitate treatment.

  2. Evidence for a Cystic Fibrosis Enteropathy.

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    Marlou P M Adriaanse

    Full Text Available 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.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.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.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.

  3. Gastroesophageal Reflux Disease in Children with Cystic Fibrosis.

    Science.gov (United States)

    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.

  4. Cystic Abnormalities of the Spinal Cord and Vertebral Column.

    Science.gov (United States)

    da Costa, Ronaldo C; Cook, Laurie B

    2016-03-01

    Cystic lesions of the vertebral column and spinal cord are important differential diagnoses in dogs with signs of spinal cord disease. Synovial cysts are commonly associated with degenerative joint disease and usually affect the cervical and lumbosacral regions. Arachnoid diverticulum (previously known as cyst) is seen in the cervical region of large breed dogs and thoracolumbar region of small breed dogs. This article reviews the causes, diagnosis, and treatment of these and other, less common, cystic lesions. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Paradoxical Embolization in an Adult Cystic Fibrosis Patient

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    Nabil M Al Lawati

    2007-01-01

    Full Text Available Cystic fibrosis patients with an implantable venous access device (IVAD and a patent foramen ovale (PFO are at an increased risk of developing paradoxical embolism. A 33-year-old patient who had a cerebrovascular accident in the above setting is described. She had been anticoagulated because she had thrombosis of the tip of the indwelling catheter, and her PFO was closed percutaneuosly followed by replacement of her IVAD. She made a full neurological recovery. Echocardiography and prophylactic closure of the PFO, when present, as primary prevention for paradoxical embolism may be warranted in cystic fibrosis patients before placement of an IVAD.

  6. [Isolation of Geosmithia argillacea in a cystic fibrosis patient].

    Science.gov (United States)

    Labbé, F; Babchia, S; Evreux, F; Chenal, P

    2013-09-01

    We report the case of an 11-year-old child with cystic fibrosis where Geosmithia argillacea has been isolated from sputum. This is a filamentous fungus (mold) recently described as emergent infectious agent in cystic fibrosis patients. In our case, the presence of G. argillacea was not associated with clinical disorder. However, recent evidence shows that it can be responsible for very serious invasive infection, especially in chronic granulomatous disease and may be, after lung transplantation. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  7. Adenoid Cystic Carcinoma of the Trachea Resulting in Fatal Asphyxia.

    Science.gov (United States)

    Huston, Butch; Froloff, Victor; Mills, Kelly; McGee, Michael

    2017-01-01

    Primary malignant tumors of the trachea are uncommon. The authors report a case of a 72-year-old female who died from asphyxia due to an undiagnosed obstructing adenoid cystic carcinoma of the trachea. The decedent became unresponsive while eating cereal and was pronounced upon arrival at the local hospital. The autopsy revealed a near occlusive tumor mass just superior to the bifurcation of the distal trachea. There was no evidence of aspiration. The death was the result of asphyxia due to obstruction of the trachea by an adenoid cystic carcinoma. This case demonstrates that an obstructive tumor mass may remain undiagnosed until an obstructive episode results in a sudden death.

  8. Atypical case of primary intraosseous adenoid cystic carcinoma of mandible

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    D P Vinuth

    2013-01-01

    Full Text Available The Primary central salivary gland neoplasms of the mandible are infrequent. Their clinical and radiographic features may be similar to odontogenic tumors, which are otherwise common. Their accurate diagnosis becomes troublesome.Hence, diagnosis should depend on stringent diagnostic criteria. Adenoid cystic carcinoma is well known for its prolonged clinical course and its tendency for delayed onset of distant metastases. The long-term survival of these patients is therefore poor. Treatment modalities include surgery, radiotherapy and chemotherapy. The purpose of this paper is to report a case of primary central adenoid cystic carcinoma of mandible with an atypical presentation.

  9. Cystic angiomatous meningioma in the cerebellopontine angle mimicking hemangioblastoma

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    Deb Prabal

    2010-01-01

    Full Text Available We hereby report an extremely unusual case of cystic angiomatous meningioma in the CPA region in a 58-year-old male patient. He presented with complaints of headache, repeated episodes of vomiting and increasing unsteadiness of gait. Neuroimaging showed a large multicystic left-sided tentorial tumor projecting into the cerebellum and CPA with contrast-enhancing peripheral solid rim. He underwent a left retromastoid craniectomy and total excision of the tumor. Histopathology revealed an angiomatous meningioma with predominant microvascular component and extensive cystic changes. Immunopositivity for epithelial membrane antigen (EMA, vimentin and S-100 protein proved vital in excluding a hemangioblastoma.

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

    Science.gov (United States)

    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

  11. The Approach to Pseudomonas aeruginosa in Cystic Fibrosis.

    Science.gov (United States)

    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.

  12. Case report 467: Cystic chondroblastoma left 4th rib

    Energy Technology Data Exchange (ETDEWEB)

    Sundaram, M.; McGuire, M.H.; Naunheim, K.; Schajowicz, F.

    1988-03-01

    A case of chondroblastoma in an 18-year-old female arising from a rib near the costotransverse articulation (presumably from the epiphysis of the articular process) has been described. The destructive pattern noted in the rib, associated with a large soft tissue mass, favored a malignant lesion rather than a benign one. Histologically, this tumor had large cystic and hemorrhagic components, consistent with the diagnosis of a cystic chondroblastoma of a rib. Curiously, this patient, like two others with chondroblastoma in a rib was asymptomatic, and attention to the abnormality was drawn from a routine chest radiography. The patient remains disease-free one and a half-years following surgery.

  13. Cystic breast lymphangioma in adult female: An unusual presentation

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    Chhanda Das

    2016-01-01

    Full Text Available Cystic lymphangiomas are rare benign tumor of the breast in adults. They are usually located in head and neck, axilla, and mediastinum. They are most commonly diagnosed in young children. Nearly 90% are apparent by the age of 2 years. Here, we reporting a case of 20-year-old female presented with gradually increasing painless swelling in the upper outer quadrant of her left breast for 1½ years. Mammography of the breast showed multiple irregular hypoechoic lesions associated with irregular duct dilatation. Lumpectomy was performed and diagnosed as cystic lymphangioma. Complete excision is the treatment of choice.

  14. Hamartoma cístico retrorretal Retrorectal cystic hamartoma

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    Cleverson Winston de Liz Medeiros

    2002-08-01

    Full Text Available A 32-year-old woman was referred to our institution for a pelvic mass. She was asymptomatic and was found to have a mass on rectal examination. Magnetic resonance showed a large solid-cystic mass and the patient underwent complete surgical excision with pathologic findings suggesting retrorectal cyst-hamartoma. Tailgut cysts (or retrorectal cystic hamartomas are rare congenital lesions settled in the retrorectal (presacral space. They are made up of cysts lined by multiple types of epithelium, often predominantly mucin-secreting. The lesion requires complete surgical excision to prevent complications of recurrence, infection or carcinomatous degeneration.

  15. Microbial ecology and adaptation in cystic fibrosis airways

    DEFF Research Database (Denmark)

    Yang, Lei; Jelsbak, Lars; Molin, Søren

    2011-01-01

    Chronic infections in the respiratory tracts of cystic fibrosis (CF) patients are important to investigate, both from medical and from fundamental ecological points of view. Cystic fibrosis respiratory tracts can be described as natural environments harbouring persisting microbial communities...... constitute the selective forces that drive the evolution of the microbes after they migrate from the outer environment to human airways. Pseudomonas aeruginosa adapts to the new environment through genetic changes and exhibits a special lifestyle in chronic CF airways. Understanding the persistent...... colonization of microbial pathogens in CF patients in the context of ecology and evolution will expand our knowledge of the pathogenesis of chronic infections and improve therapeutic strategies....

  16. Neuron specific enolase demonstration in the diagnosis of a solid-cystic (papillary cystic) tumour of the pancreas.

    Science.gov (United States)

    Chott, A; Klöppel, G; Buxbaum, P; Heitz, P U

    1987-01-01

    Immunoreactivity to neuron specific enolase (NSE) was demonstrated in a solid-cystic (papillary cystic) tumour of the human pancreas, employing immunohistochemical methods. Positive staining for NSE was found with two different antisera. In addition, sodium-dodecyl-sulphate-polyacrylamide-gel-electro-phoresis (SDS-PAGE) of tumour homogenate revealed a distinct band reacting with a NSE antiserum. However, we failed to detect any hormonal products or neuroendocrine granules in the tumour. Therefore the authors advise caution in using the enzyme as a differential diagnostic tool, especially in surgical pathology of epithelial pancreatic neoplasms occurring in young females. In individual cases electron microscopy will be necessary since solid-cystic tumours of the pancreas consistently show large intracytoplasmic zymogen-like granules.

  17. A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator.

    Science.gov (United States)

    Ramjeesingh, M; Li, C; Kogan, I; Wang, Y; Huan, L J; Bear, C E

    2001-09-04

    The cystic fibrosis transmembrane conductance regulator (CFTR) normally functions as a phosphorylation-regulated chloride channel on the apical surface of epithelial cells, and lack of this function is the primary cause for the fatal disease cystic fibrosis (CF). Previous studies showed that purified, reconstituted CFTR can function as a chloride channel and, further, that its intrinsic ATPase activity is required to regulate opening and closing of the channel gate. However, these previous studies did not identify the quaternary structure required to mediate conduction and catalysis. Our present studies show that CFTR molecules may self-associate in CHO and Sf9 membranes, as complexes close to the predicted size of CFTR dimers can be captured by chemical cross-linking reagents and detected using nondissociative PAGE. However, CFTR function does not require a multimeric complex for function as we determined that purified, reconstituted CFTR monomers are sufficient to mediate regulated chloride conduction and ATPase activity.

  18. Congenital cystic neck masses: embryology and imaging appearances, with clinicopathological correlation.

    Science.gov (United States)

    Gaddikeri, Santhosh; Vattoth, Surjith; Gaddikeri, Ramya S; Stuart, Royal; Harrison, Keith; Young, Daniel; Bhargava, Puneet

    2014-01-01

    Congenital cystic masses of the neck are uncommon and can present in any age group. Diagnosis of these lesions can be sometimes challenging. Many of these have characteristic locations and imaging findings. The most common of all congenital cystic neck masses is the thyroglossal duct cyst. The other congenital cystic neck masses are branchial cleft cyst, cystic hygroma (lymphangioma), cervical thymic and bronchogenic cysts, and the floor of the mouth lesions including dermoid and epidermoid cysts. In this review, we illustrate the common congenital cystic neck masses including embryology, clinical findings, imaging features, and histopathological findings.

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

    Science.gov (United States)

    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.

  20. Phenotypic heterogeneity of Pseudomonas aeruginosa populations in a cystic fibrosis patient.

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    Matthew L Workentine

    Full Text Available The opportunistic pathogen Pseudomonas aeruginosa chronically infects the lower airways of patients with cystic fibrosis. Throughout the course of infection this organism undergoes adaptations that contribute to its long-term persistence in the airways. While P. aeruginosa diversity has been documented, it is less clear to what extent within-patient diversity contributes to the overall population structure as most studies have been limited to the analysis of only a few isolates per patient per time point. To examine P. aeruginosa population structure in more detail we collected multiple isolates from individual sputum samples of a patient chronically colonized with P. aeruginosa. This strain collection, comprised of 169 clonal isolates and representing three pulmonary exacerbations as well as clinically stable periods, was assayed for a wide selection of phenotypes. These phenotypes included colony morphology, motility, quorum sensing, protease activity, auxotrophy, siderophore levels, antibiotic resistance, and growth profiles. Each phenotype displayed significant variation even within isolates of the same colony morphotype from the same sample. Isolates demonstrated a large degree of individuality across phenotypes, despite being part of a single clonal lineage, suggesting that the P. aeruginosa population in the cystic fibrosis airways is being significantly under-sampled.

  1. Phenotypic heterogeneity of Pseudomonas aeruginosa populations in a cystic fibrosis patient.

    Science.gov (United States)

    Workentine, Matthew L; Sibley, Christopher D; Glezerson, Bryan; Purighalla, Swathi; Norgaard-Gron, Jens C; Parkins, Michael D; Rabin, Harvey R; Surette, Michael G

    2013-01-01

    The opportunistic pathogen Pseudomonas aeruginosa chronically infects the lower airways of patients with cystic fibrosis. Throughout the course of infection this organism undergoes adaptations that contribute to its long-term persistence in the airways. While P. aeruginosa diversity has been documented, it is less clear to what extent within-patient diversity contributes to the overall population structure as most studies have been limited to the analysis of only a few isolates per patient per time point. To examine P. aeruginosa population structure in more detail we collected multiple isolates from individual sputum samples of a patient chronically colonized with P. aeruginosa. This strain collection, comprised of 169 clonal isolates and representing three pulmonary exacerbations as well as clinically stable periods, was assayed for a wide selection of phenotypes. These phenotypes included colony morphology, motility, quorum sensing, protease activity, auxotrophy, siderophore levels, antibiotic resistance, and growth profiles. Each phenotype displayed significant variation even within isolates of the same colony morphotype from the same sample. Isolates demonstrated a large degree of individuality across phenotypes, despite being part of a single clonal lineage, suggesting that the P. aeruginosa population in the cystic fibrosis airways is being significantly under-sampled.

  2. Validity of the DISABKIDS® - Cystic Fibrosis Module for Brazilian children and adolescents

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    Danielle Maria de Souza Serio dos Santos

    2014-10-01

    Full Text Available OBJECTIVES: to validate the health-related quality of life measuring instrument DISABKIDS(r - Cystic Fibrosis Module (self version for Brazilian children and adolescents.METHOD: methodological study in which a sample of 113 participants (54 girls and 59 boys; mean age 11.91 years and SD=2.79 was considered, from four Brazilian states, São Paulo, Paraná, Minas Gerais and the Federal District, 51 of whom participated in the pilot study and 62 in the field study. The answers to the questionnaire were analyzed, considering the frequency distributions with regard to the floor and ceiling effects, Cronbach's Alpha statistics, Pearson's Linear Correlation Coefficient, Mulitrait-Multimethod analysis and Confirmatory Factor Analysis according to Structural Equations Modeling.RESULTS: the instrument showed a high internal consistency coefficient (verified using Cronbach's Alpha and construct validity, according to the Multitrait-Multimethod analysis. The DISABKIDS(r - Cystic Fibrosis Module, self version, maintained the same factorial structure as in the originally proposed model.CONCLUSION: the instrument validation has been finished and indicates that the self version is validated for use in Brazil and can be included into the monitoring routine of this population.

  3. [Polymethoxylated flavonoids activate cystic fibrosis transmembrane conductance regulator chloride channel].

    Science.gov (United States)

    Cao, Huan-Huan; Fang, Fang; Yu, Bo; Luan, Jian; Jiang, Yu; Yang, Hong

    2015-04-25

    Cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-dependent chloride channel, plays key roles in fluid secretion in serous epithelial cells. Previously, we identified two polymethoxylated flavonoids, 3',4',5,5',6,7-hexamethoxyflavone (HMF) and 5-hydroxy-6,7,3',4'-tetramethoxyflavone (HTF) which could potentiate CFTR chloride channel activities. The present study was aimed to investigate the potentiation effects of HMF and HTF on CFTR Cl(-) channel activities by using a cell-based fluorescence assay and the short circuit Ussing chamber assay. The results of cell-based fluorescence assay showed that both HMF and HTF could dose-dependently potentiate CFTR Cl(-) channel activities in rapid and reversible ways, and the activations could be reversed by the CFTR blocker CFTRinh-172. Notably, HMF showed the highest affinity (EC50 = 2 μmol/L) to CFTR protein among the flavonoid CFTR activators identified so far. The activation of CFTR by HMF or HTF was forskolin (FSK) dependent. Both compounds showed additive effect with FSK and 3-Isobutyl-1-methylx (IBMX) in the activation of CFTR, while had no additive effect with genistein (GEN). In ex vivo studies, HMF and HTF could stimulate transepithelial Cl(-) secretion in rat colonic mucosa and enhance fluid secretion in mouse trachea submucosal glands. These results suggest that HMF and HTF may potentiate CFTR Cl(-) channel activities through both elevation of cAMP level and binding to CFTR protein pathways. The results provide new clues in elucidating structure and activity relationship of flavonoid CFTR activators. HMF might be developed as a new drug in the therapy of CFTR-related diseases such as bronchiectasis and habitual constipation.

  4. Adherence to airway clearance therapies by adult cystic fibrosis patients.

    Science.gov (United States)

    Flores, Josani Silva; Teixeira, Fernanda Ângela; Rovedder, Paula Maria Eidt; Ziegler, Bruna; Dalcin, Paulo de Tarso Roth

    2013-02-01

    Airway clearance therapy (ACT) is critical in cystic fibrosis (CF). To determine rates of self-reported adherence to ACT by patients treated in an adult CF program, to identify patient characteristics associated with poor adherence, to typify adherence according to ACT technique, and to indicate reasons for poor adherence. Our cross-sectional study included CF subjects age 16 years and older. Enrollees were evaluated via general structured questionnaire, adherence questionnaire, clinical assessment, spirometry, and S(pO(2)) values. Each was stratified by self-reporting protocol as high, moderate, or poor adherence to ACT. Concordance between physiotherapist recommended ACT technique and self-reported subject adherence was subjected to agreement analysis. Of the 63 subjects studied, 38 (60%) qualified as high adherence, 12 (19%) as moderate adherence, and 13 (21%) as poor adherence. Logistic regression identified education level (less than high school) as an independent factor associated with poor adherence (odds ratio 10.2, 95% CI 1.23-84.7, P = .03). Positive expiratory pressure (κ = 0.87) and flutter device (κ = 0.63) usage both corresponded with a high level of agreement, while active cycle of breathing technique (κ = 0.40) and autogenic drainage (κ = 0.39) each showed moderate agreement. Agreement was low for percussion and postural drainage (κ = 0.23). Reasons given most frequently for poor adherence to ACT were "not enough time to do ACT" (28%), "cannot be bothered" (16%), and "do not enjoy ACT technique" (8%). Many (32%) provided no reason. Study outcomes showed a high rate of ACT adherence in adult CF subjects. Lower level of education was the most important factor in poor adherence to ACT. Self-reported adherence and treatment recommendations were in best agreement with positive expiratory pressure and flutter device techniques. © 2013 Daedalus Enterprises.

  5. Oval cells and cystic structures in multiplication of M leprae

    Directory of Open Access Journals (Sweden)

    Bhatia V

    1995-01-01

    Full Text Available Ten preserved biopsy suspensions from leprosy patients were inoculated in biphasic medium and incubated alternatively in refrigerator and at 37 °C. The cultures were observed every week for 3 months. The typical actinomycetoid growth appeared within 3-5 days. Microscopically, two types of cysts (unstained and dark were seen along with oval cells. Dark cysts showed developement of irregular septae or cracks breaking the mass into irregular quadrangular pieces. Granular acid-fast material could be made out inside the cracks and around the cysts. Oval cells were seen either independently or organised around pink homogeneous material. The oval cells were stained blue or pink. Some of them showed both blue and pink shades.

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

    Energy Technology Data Exchange (ETDEWEB)

    Rozen, R.; Ferreira-Rajabi, L.; Robb, L. [McGill Univ., Montreal, Quebec (Canada)] [and others

    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. Fungal atopy in adult cystic fibrosis.

    LENUS (Irish Health Repository)

    Henry, M

    2012-02-03

    This study set out to estimate the prevalence of atopy to a variety of common ubiquitous fungi, including A. fumigatus, in cystic fibrosis (CF), and to evaluate the investigations by which the diagnosis was made. Particular attention was paid to the usefulness of skin testing and immunoassays in detecting which patients had simple fungal atopy, and which patients were at high risk of developing allergic bronchopulmonary mycoses. This cross-sectional study included 21 adult CF patients and 20 matched controls. Serum samples were taken for the measurement of total serum IgE and specific serum IgE to nine common fungi. Immediate hypersensitivity skin prick testing to each of the fungi was also performed. Simple fungal atopy was described in subjects fulfilling the following criteria: total serum IgE > 100 KU l(-1) with specific radioimmunoassay > or = grade 1 to at least one fungus and a positive skin prick test (SPT) > or = 3 mm to the same fungus. \\'High risk\\' for developing allergic bronchopulmonary mycosis (ABPM) was described in subjects fulfilling the following criteria: total serum IgE > 200 KU l(-1) with specific radioimmunoassay > or = grade 2 to at least one fungus and a positive skin prick test (SPT) > or = 6 mm to the same fungus. The adult CF group had a significantly higher total SPT score (P=0.005) and mean total serum IgE (P<0.05) than controls. Forty-three percent of CF patients fulfilled the criteria for fungal atopy to at least a single fungus. Over half this group had an atopic tendency to more than one fungus. Nineteen percent of the CF group were at least \\'high risk\\' of developing ABPM. Skin prick testing is a better marker of fungal atopy and a better predictor of those adult CF patients at higher risk of developing ABPM than specific radioimmunoassay serum testing. There is a high prevalence of fungal atopy in the adult CF population. Total serum IgE and skin prick testing are good predictors of fungal atopy and help predict those at

  8. Cystic fibrosis, molecular genetics for all life

    Directory of Open Access Journals (Sweden)

    Ausilia Elce

    2015-10-01

    Full Text Available Cystic fibrosis (CF is the most frequent lethal autosomal recessive disorder among Caucasians (incidence: 1:2,500 newborn. In the last two decades CF prognosis considerably improved and many patients well survive into their adulthood. Furthermore, milder CF with a late onset was described. CF is a challenge for laboratory of molecular genetics that greatly contributes to the natural history of the disease since fetal age. Carrier screening and prenatal diagnosis, also by non-invasive analysis of maternal blood fetal DNA, are now available, and many labs offer preimplantation diagnosis. The major criticism in prenatal medicine is the lack of an effective multidisciplinary counseling that helps the couples to plan their reasoned reproductive choice. Most countries offer newborn screening that significantly reduce CF morbidity but different protocols based on blood trypsin, molecular analysis and sweat chloride cause a variable efficiency of the screening programs. Again, laboratory is crucial for CF diagnosis in symptomatic patients: sweat chloride is the diagnostic golden standard, but different methodologies and the lack of quality control in most labs reduce its effectiveness. Molecular analysis contributes to confirm diagnosis in symptomatic subjects; furthermore, it helps to predict the disease outcome on the basis of the mutation (genotype-phenotype correlation and mutations in a myriad of genes, inherited independently by CF transmembrane conductance regulator (CFTR, which may modulate the clinical expression of the disease in each single patient (modifier genes. More recently, the search of the CFTR mutations gained a role in selecting CF patients that may benefit from biological therapy based on correctors and potentiators that are effective in patients bearing specific mutations (personalized therapy. All such applications of molecular diagnostics confirm the “uniqueness” of each CF patient, offering to laboratory medicine the

  9. Systematic review of N-acetylcysteine in cystic fibrosis

    NARCIS (Netherlands)

    Duijvestijn, YCM; Brand, PLP

    1999-01-01

    A systematic review was carried out to evaluate whether the use of N-acetylcysteine to improve lung function in patients with cystic fibrosis is supported by published evidence. Medline and the Cochrane Library were searched and the reference lists of all retrieved papers and of relevant chapters of

  10. Clinical pharmacokinetics of antimicrobial drugs in cystic fibrosis

    NARCIS (Netherlands)

    Touw, D J

    The disposition of many drugs in cystic fibrosis is abnormal compared with healthy individuals. In general, changes include an increased volume of distribution expressed in liters per kg bodyweight for highly hydrophilic drugs such as aminoglycosides, and, to a lesser extent, for penicillins and

  11. Small Airways Disease in Cystic Fibrosis: Improving efficacy of treatment

    NARCIS (Netherlands)

    A.C. Bos (Aukje)

    2016-01-01

    markdownabstractCystic fibrosis (CF) is a severe hereditary and life-threatening disease in the Caucasian population, affecting 70,000 patients worldwide. In the 1950s, a child with CF would rarely live long enough to attend elementary school. Luckily, life expectancy has dramatically improved

  12. Management of cystic lymphangioma: experience of two referral ...

    African Journals Online (AJOL)

    management as surgery, although it is not widely practiced in developing ... There is a high postoperative ... especially with head and neck cystic lymphangiomas. ... Long-term follow-up is desirable after excision because of ... malformation component or prominent draining blood ... characteristics and ultrasonography.

  13. Inspiratory muscle training in patients with cystic fibrosis

    NARCIS (Netherlands)

    de Jong, W.; van Aalderen, W.M.C.; Kraan, J.; Koeter, G.H.; van der Schans, C.P.

    Little information is available about the effects of inspiratory muscle training in patients with cystic fibrosis (CF). In this study the effects of inspiratory-threshold loading in patients with CF on strength and endurance of the inspiratory muscles, pulmonary function, exercise capacity, dyspnoea

  14. Mycobacterium chimaera pulmonary infection complicating cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Rolain Jean-Marc

    2011-09-01

    Full Text Available Abstract Background Mycobacterium chimaera is a recently described species within the Mycobacterium avium complex. Its pathogenicity in respiratory tract infection remains disputed. It has never been isolated during cystic fibrosis respiratory tract infection. Case presentation An 11-year-old boy of Asian ethnicity who was born on Réunion Island presented to our hospital with cystic fibrosis after a decline in his respiratory function over the course of seven years. We found that the decline in his respiratory function was correlated with the persistent presence of a Mycobacterium avium complex organism further identified as M. chimaera. Conclusion Using sequencing-based methods of identification, we observed that M. chimaera organisms contributed equally to respiratory tract infections in patients with cystic fibrosis when compared with M. avium subsp. hominissuis isolates. We believe that M. chimaera should be regarded as an emerging opportunistic respiratory pathogen in patients with cystic fibrosis, including young children, and that its detection warrants long-lasting appropriate anti-mycobacterial treatment to eradicate it.

  15. Transcellular sodium transport in cultured cystic fibrosis human nasal epithelium

    DEFF Research Database (Denmark)

    Willumsen, Niels J.; Boucher, Richard C.

    1991-01-01

    Cystic fibrosis (CF) airway epithelia exhibit raised transepithelial Na+ transport rates, as determined by open-circuit isotope fluxes and estimates of the amiloride-sensitive equivalent short-circuit current (Ieq). To study the contribution of apical and basolateral membrane paths to raised Na+ ...

  16. Cystic fibrosis heterozygotes do not have increased platelet activation

    DEFF Research Database (Denmark)

    Tarnow, Inge; Michelson, Alan D.; Frelinger III, Andrew L.;

    2007-01-01

    Introduction: We have previously demonstrated platelet hyperreactivity in cystic fibrosis (CF) patients. Carriers of one CF m utation (heterozygotes) have been shown to have abnormalities related to the presence of only one-half the normal amount of CF transmembrane conductance regulator protein...

  17. Evolution and adaptation of Pseudomonas aeruginosa in cystic fibrosis airways

    DEFF Research Database (Denmark)

    Madsen Sommer, Lea Mette

    of natural environments, the primary obstacle is re-sampling of the samepopulation over time, especially if the population is small.Nevertheless, it has been accomplished: Chronic airway infections of cystic fibrosis (CF) patients have offered a unique view into the adaptationand evolution of Pseudomonas...

  18. Risk of asthma in heterozygous carriers for cystic fibrosis

    DEFF Research Database (Denmark)

    Nielsen, Anne Orholm; Qayum, Sadaf; Bouchelouche, Pierre Nourdine;

    2016-01-01

    BACKGROUND: Patients with cystic fibrosis (CF) have a higher prevalence of asthma than the background population, however, it is unclear whether heterozygous CF carriers are susceptible to asthma. Given this, a meta-analysis is necessary to determine the veracity of the association of CF...

  19. Shifting paradigms of nontuberculous mycobacteria in cystic fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Pressler, Tania; Høiby, Niels;

    2014-01-01

    Important paradigms of pulmonary disease with nontuberculous mycobacteria (NTM) are currently shifting based on an increasing attention within the field of cystic fibrosis (CF). These shifts are likely to benefit the management of all patients with pulmonary NTM, regardless of underlying pathology...

  20. Serodiagnosis of Mycobacterium abscessus complex infection in cystic fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Pressler, Tania; Taylor-Robinson, David;

    2015-01-01

    Early signs of pulmonary disease with Mycobacterium abscessus complex (MABSC) can be missed in patients with cystic fibrosis (CF). A serological method could help stratify patients according to risk. The objective of this study was to test the diagnostic accuracy of a novel method for investigating...

  1. Cystic synovial sarcomas: imaging features with clinical and histopathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Nakanishi, Hirofumi; Araki, Nobuhito [Department of Orthopedic Surgery, Osaka Medical Center for Cancer and Cardiovascular Diseases, 1-3-3, Nakamichi, Higashinari-Ku, 537-8511, Osaka (Japan); Sawai, Yuka [Department of Radiology, Osaka Medical Center for Cancer and Cardiovascular Diseases, Osaka (Japan); Kudawara, Ikuo [Department of Orthopedic Surgery, Osaka National Hospital, Osaka (Japan); Mano, Masayuki; Ishiguro, Shingo [Department of Pathology, Osaka Medical Center for Cancer and Cardiovascular Diseases, Osaka (Japan); Ueda, Takafumi; Yoshikawa, Hideki [Department of Orthopedic Surgery, Osaka University Graduate School of Medicine, Suita, Osaka (Japan)

    2003-12-01

    To characterize the radiological and clinicopathologic features of cystic synovial sarcoma. Seven patients with primary cystic synovial sarcoma were evaluated. Computed tomography (CT) and magnetic resonance (MR) imaging were undertaken at the first presentation. The diagnosis of synovial sarcoma was made on the basis of histological examinations followed by molecular analysis. Radiological and clinicopathologic findings were reviewed. CT showed well-defined soft tissue mass without cortical bone erosion and invasion. Calcification was seen at the periphery of the mass in three cases. T2-weighted MR images showed multilocular inhomogeneous intensity mass in all cases, five of which showed fluid-fluid levels. On gross appearance, old and/or fresh hematomas were detected in six cases. In the one remaining case, microscopic hemorrhage in the cystic lumen was proven. Four cases had poorly differentiated areas. In five cases prominent hemangiopericytomatous vasculature was observed. Histologic grade was intermediate in one tumor and high in six. One case had a history of misdiagnosis for tarsal tunnel syndrome, one for lymphadenopathy, two for sciatica and two for hematoma. All cystic synovial sarcomas demonstrated multilocularity with well-circumscribed walls and internal septae. Synovial sarcoma should be taken into consideration in patients with deeply situated multicystic mass with triple signal intensity on T2-weighted MR imaging. (orig.)

  2. Inspiratory muscle training in patients with cystic fibrosis

    NARCIS (Netherlands)

    de Jong, W.; van Aalderen, W.M.C.; Kraan, J.; Koeter, G.H.; van der Schans, C.P.

    2001-01-01

    Little information is available about the effects of inspiratory muscle training in patients with cystic fibrosis (CF). In this study the effects of inspiratory-threshold loading in patients with CF on strength and endurance of the inspiratory muscles, pulmonary function, exercise capacity, dyspnoea

  3. Modular microfluidic system as a model of cystic fibrosis airways

    DEFF Research Database (Denmark)

    Skolimowski, Maciej; Weiss Nielsen, Martin; Abeille, Fabien

    2012-01-01

    pumps, bubble traps, gas exchange chip, and cell culture chambers. We have successfully applied this system for studying the antibiotic therapy of Pseudomonas aeruginosa, the bacteria mainly responsible for morbidity and mortality in cystic fibrosis, in different oxygen environments. Furthermore, we...

  4. Cystic fibrosis gene mutations: evaluation and assessment of disease severity

    Directory of Open Access Journals (Sweden)

    Vallières E

    2014-10-01

    Full Text Available Emilie Vallières, Joseph Stuart ElbornCystic Fibrosis and Airways Microbiology Research Group, Queens University Belfast, Belfast, UKAbstract: The cystic fibrosis transmembrane regulator (CFTR gene encodes an ion channel transporter, the CFTR protein. Since its identification in 1989, more than 1,900 sequence variants have been reported, resulting in a wide spectrum of clinical phenotypes. Cystic fibrosis (CF is associated with many CFTR mutants and there is a continuum of disease severity observed. Recent advances in fundamental research have increased our understanding of the consequent molecular defect arising from CF mutations. This knowledge has resulted in the development of CF-specific therapies, targeting either the genetic or the molecular defect. CF care, previously focused on symptom control, is therefore moving toward a "stratified" or "precision" therapeutic approach. This review outlines normal CFTR physiology, the proposed pathologic mechanism underlying CF associated-lung injury, classification of CF mutations, and the CF-specific therapies recently approved or in clinical trials.Keywords: cystic fibrosis, gene mutations, disease severity, evaluation, assessment

  5. Diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis

    DEFF Research Database (Denmark)

    Skov, M; Koch, C; Reimert, C M;

    2000-01-01

    The diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis (CF) patients may be difficult to establish because ABPA shares many characteristics with coexisting atopy or other lung infections in these patients. This study aimed to evaluate the sensitivity and specificity...

  6. Predictive 5-Year Survivorship Model of Cystic Fibrosis

    Science.gov (United States)

    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

  7. Students as Technicians: Screening Newborns for Cystic Fibrosis

    Science.gov (United States)

    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…

  8. Systematic review of N-acetylcysteine in cystic fibrosis

    NARCIS (Netherlands)

    Duijvestijn, YCM; Brand, PLP

    1999-01-01

    A systematic review was carried out to evaluate whether the use of N-acetylcysteine to improve lung function in patients with cystic fibrosis is supported by published evidence. Medline and the Cochrane Library were searched and the reference lists of all retrieved papers and of relevant chapters of

  9. Typing of Pseudomonas aeruginosa strains in Norwegian cystic fibrosis patients

    DEFF Research Database (Denmark)

    Fluge, G; Ojeniyi, B; Høiby, N

    2001-01-01

    OBJECTIVES: Typing of Pseudomonas aeruginosa isolates from Norwegian cystic fibrosis (CF) patients with chronic Pseudomonas lung infection in order to see whether cross-infection might have occurred. METHODS: Isolates from 60 patients were collected during the years 1994-98, and typed by pulsed...

  10. An unusual cystic appearance of disseminated low-grade gliomas

    Energy Technology Data Exchange (ETDEWEB)

    Huang, T.; Zimmerman, R.A. [Dept. of Radiology, Children' s Hospital of Philadelphia, PA (United States); Perilongo, G. [Dipt. di Pediatria, Univ. di Padova (Italy); Kaufman, B.A. [Dept. of Neurosurgery, St Louis Children' s Hospital, St Louis, MO (United States); Holden, K.R. [Division of Pediatric Neurology, Room 511, Children' s Hospital, Medical University of South Carolina, 171 Ashley Avenue, Charleston, SC 29425-2232 (United States); Carollo, C. [Division of Neuroradiology, Regione Veneto, Azienda Ospedalieri di Padova, Universita di Padova, Via Giustiniani 3, 35 128 Padua (Italy); Kling Chong, W.K. [Dept. of Radiology, Great Ormond Street Hospital for Children, London (United Kingdom)

    2001-10-01

    We report five cases of pediatric disseminated low-grade gliomas of the brainstem or spinal cord that exhibited an unusual, cystic pattern. Leptomeningeal disease was present in three of these at diagnosis, and was detected shortly afterwards in the other two. Four patients are alive up to 5 years later, following minimal to no intervention, while one is dead. (orig.)

  11. First Trimester Cystic Hygroma : Ultrasonographic Findings and Significance

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Hwa [Chunan Hospital, Soonchunhyang University College of Medicine, Cheonan (Korea, Republic of)

    1996-12-15

    To evaluate the ultrasonographic findings and the outcome of the cystic hygroma diagnosed in the first trimester of pregnancy. Eleven fetuses with cystic hygroma were found on routine antenatal trans vaginal ultrasonography. Nine fetuses had karyotyping. All of the continued pregnancies had detailed-ultrasonographic follow-up and postnatal physical examination. The thickness of the nuchaltranslucency was 3{approx}8 mm. Seperation was seen in 3 of 11 cases. 10 cases showed nuchal translucency in dorsalaspect and 1 showed lateral extension. Aneuploidy was found in 2 (Trisomy 21, Triploidy XXY) of 9 cases, which was 22.2%. Among 7 euploid cases, one was spontaneously aborted and one was terminated due to cystic hygroma and bilateral polycystic kidney. Nuchal thickening in the second trimester was found in 3 of 7 cases. One of 7delivered cases showed hemangioma in the cheek and 6 case showed normal on physical examination. If fetal cystic hygroma is suspected in the first trimester, antenatal karyotyping should be done, and detailed-ultrasonographic examination and postnatal physical examination should be recommended for possible associated anomaly even if the karyotype is normal

  12. Phylogenetic and metabolic diversity of bacteria associated with cystic fibrosis

    NARCIS (Netherlands)

    Roeselers, G.; Guss, A. M.; Newton, I. L. G.; Klepac-Ceraj, V.; Lory, S.; Cavanaugh, C. M.

    2010-01-01

    In patients afflicted with cystic fibrosis (CF), morbidity and mortality are primarily associated with the adverse consequences of chronic microbial bronchial infections, which are thought to be caused by a few opportunistic pathogens. However, recent evidence suggests the presence of other microorg

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

    Science.gov (United States)

    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.

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

    OpenAIRE

    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.

  15. Giant solid-cystic hypothalamic hamartoma. Case report.

    Science.gov (United States)

    Dorfer, Christian; Kasprian, Gregor; Mühlebner, Angelika; Czech, Thomas

    2011-02-01

    Hypothalamic hamartomas are rare lesions for which different classification schemes have been proposed. The authors report on an exceptionally large solid-cystic hamartoma that led to hydrocephalus, precocious puberty, and intractable gelastic seizures. They discuss potential mechanisms of the development of hypothalamic hamartomas.

  16. Risk of asthma in heterozygous carriers for cystic fibrosis

    DEFF Research Database (Denmark)

    Nielsen, Anne Orholm; Qayum, Sadaf; Bouchelouche, Pierre Nourdine

    2016-01-01

    Background Patients with cystic fibrosis (CF) have a higher prevalence of asthma than the background population, however, it is unclear whether heterozygous CF carriers are susceptible to asthma. Given this, a meta-analysis is necessary to determine the veracity of the association of CF...

  17. Transcellular sodium transport in cultured cystic fibrosis human nasal epithelium

    DEFF Research Database (Denmark)

    Willumsen, Niels J.; Boucher, Richard C.

    1991-01-01

    Cystic fibrosis (CF) airway epithelia exhibit raised transepithelial Na+ transport rates, as determined by open-circuit isotope fluxes and estimates of the amiloride-sensitive equivalent short-circuit current (Ieq). To study the contribution of apical and basolateral membrane paths to raised Na...

  18. Mucin profile of the pancreatic mucinous cystic neoplasms

    Institute of Scientific and Technical Information of China (English)

    JI Yuan; XU Jian-fang; KUANG Tian-tao; ZHOU Yan-nan; LU Shao-hua; TAN Yun-shan

    2006-01-01

    @@ Mucinous cystic neoplasms (MCNs) of the pancreas are a distinct entity, account for 1% of pancreatic exocrine tumors. MCNs can be classified histologically as adenomas, borderline tumors, or carcinomas. Because several evidences showing that mucinous cystadenomas are poten- tially malignant and may transform into cystadeno- carcinomas, particularly if treated by drainage, these tumors should be identified accurately.1

  19. Systematic review of N-acetylcysteine in cystic fibrosis

    NARCIS (Netherlands)

    Duijvestijn, YCM; Brand, PLP

    A systematic review was carried out to evaluate whether the use of N-acetylcysteine to improve lung function in patients with cystic fibrosis is supported by published evidence. Medline and the Cochrane Library were searched and the reference lists of all retrieved papers and of relevant chapters of

  20. Cystic angiomatosis with splenic involvement: unusual MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Vanhoenacker, F.M. [Dept. of Radiology, Univ. Hospital Antwerp, Edegem (Belgium); Dept. of Radiology, AZ St-Maarten, Campus Duffel, Duffel (Belgium); Schepper, A.M. [Dept. of Radiology, Univ. Hospital Antwerp, Edegem (Belgium); Raeve, H. [Dept. of Pathology, Univ. Hospital Antwerp, Edegem (Belgium); Berneman, Z. [Dept. of Hematology, Univ. Hospital Antwerp, Edegem (Belgium)

    2003-12-01

    Cystic angiomatosis is a rare disorder with a poor prognosis. We describe a case of a 33-year-old woman who presented with longstanding bone pain, hemolytic anemia, and an enlarged spleen. Radiologically, multiple osseous lesions with a mixed pattern of lytic and sclerotic areas were seen within the shoulders, spine, and pelvis. On CT and MRI of the abdomen, the spleen was markedly enlarged, with internal hyperdense foci on non-contrast CT scan, corresponding to low signal intensity areas on all MR pulse sequences. After administration of contrast, a mottled enhancement pattern throughout the entire spleen was seen both on CT and MRI. Cystic angiomatosis was proven by histological analysis of a biopsy specimen of an involved vertebra and histopathological examination of the spleen after subsequent splenectomy. This is the first report of a patient with disseminated cystic angiomatosis with splenic involvement in which the MRI features differ from the previous reports. Instead of the usual pattern consisting of multiple well-defined cystic lesions, a diffuse involvement replacing the entire spleen, with heterogeneous signal intensities on T2-weighted images and heterogeneous enhancement pattern, was seen in our patient. (orig.)

  1. Chronic rhinovirus infection in an adult with cystic fibrosis.

    Science.gov (United States)

    Flight, William G; Bright-Thomas, Rowland J; Tilston, Peter; Mutton, Kenneth J; Guiver, Malcolm; Webb, A Kevin; Jones, Andrew M

    2013-11-01

    Rhinovirus is a common cause of exacerbations of cystic fibrosis (CF) and is usually considered a self-limiting infection. We report a case of chronic infection with rhinovirus A type 33 in a 43-year-old male with CF which has persisted for over 2 years.

  2. THE METABOLIC EFFECTS OF PREGNANCY IN CYSTIC FIBROSIS

    Science.gov (United States)

    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...

  3. A functional CFTR assay using primary cystic fibrosis intestinal organoids

    NARCIS (Netherlands)

    Dekkers, J.F.; Wiegerinck, C.L.; de Jonge, H.R.; Bronsveld, I.; Janssens, H.M.; de Winter-de Groot, K.M.; Brandsma, A.M.; de Jong, N.W.; Bijvelds, M.J.; Scholte, B.J.; Nieuwenhuis, E.E.; van den Brink, S.; Clevers, H.; van der Ent, C.K.; Middendorp, S.; Beekman, J.M.

    2013-01-01

    We recently established conditions allowing for long-term expansion of epithelial organoids from intestine, recapitulating essential features of the in vivo tissue architecture. Here we apply this technology to study primary intestinal organoids of people suffering from cystic fibrosis, a disease ca

  4. Exercise and quality of life in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Schmidt, Anne Mette; Jacobsen, Ulla; Bregnballe, Vibeke

    2011-01-01

    It was hypothesised that increased exercise capacity is related to improved quality of life (QoL) in patients with cystic fibrosis (CF). A 12-week individually tailored unsupervised aerobic exercise programme was offered to 42 patients with CF. At the start and at the end of the exercise programm...

  5. Cystic tumors of the liver: A practical approach

    Institute of Scientific and Technical Information of China (English)

    Paolo Del Poggio; Marco Buonocore

    2008-01-01

    Biliary cyst tumors (cystadenoma and cystadenocarcinoma) are an indication for liver resection. They account for only 5% of all solitary cystic lesions of the liver, but differential diagnosis with multiloculated or complicated biliary cysts, atypical hemangiomas, hamartomas and lymphangiomas may be difficult. The most frequent challenge is to differentiate biliary cyst tumors from hemorrhagic cysts. Computerized tomography (CT) and magnetic resonance imaging (MRI) are often not diagnostic and in these cases fine needle aspiration (FNA) is used to confirm the presence of atypical biliary cells. FNA, however, lacks adequate sensitivity and specificity and should always be used in conjunction with imaging. Pre-operative differentiation of cystadenoma from cystadenocarcinoma is impossible and surgery must be performed if a biliary cyst tumor is suspected. When multiple cystic lesions are observed throughout the liver parenchyma, it is important to exclude liver metastasis, of which colonic cancer is the most common primary site. Multiple biliary hamartomas (von Meyenburg complex) can appear as a mixture of solid and cystic lesions and can be confused with cystic metastasis. Strong and uniform T2 hyperintensity on MRI is usually diagnostic, but occasionally a percutaneous biopsy may be required.

  6. miR-17 overexpression in cystic fibrosis airway epithelial cells decreases interleukin-8 production.

    Science.gov (United States)

    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.

  7. Antenatal testing for cystic fibrosis in Cuba, 1988-2011.

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  9. An update on cystic ovarian degeneration in cattle.

    Science.gov (United States)

    Peter, A T

    2004-02-01

    Cystic ovarian degeneration (COD) is considered to be one of the most important causes of reproductive failure in cattle. There is a severe economic loss to dairy industry because COD increases days-open in the postpartum period and the culling rates. The disease process is a consequence of a mature follicle that fails to ovulate at the appointed time of ovulation in the oestrous cycle. This anovulatory follicular structure either regresses or persists as a follicular or luteal cyst depending upon its structural/functional characteristics. The cells lining the follicular cyst synthesize oestrogen that, in certain instances, forces the animal to exhibit clinical signs of nymphomania. Besides oestrogen production, as per recent findings, they are also capable of secreting varying amount of progesterone which may dictate their fate. The animals that carry a luteal cyst may tend to be in anoestrus as the higher amount of progesterone secreted by this luteinized structure may change the pattern of gonadotrophins' secretion. Present findings suggest that perturbation of the hypothalamo-hypophyseal-ovarian (HHO) axis, due to many exogenous and endogenous factors, as the cause for anovulation. For example, it has been suggested that lack of hypothalamic or hypophyseal response to the positive feedback effect of oestrogens that are secreted by the dominant follicle as one of the many causes. The non-physiological changes that occur in the receptor expression of the HHO axis for the hormones involved in maturation, deviation, dominance and ovulation of the follicle may be yet another cause. The changes that occur at the cellular and molecular level in the ovary (in response to the factors mentioned above) that contribute to anovulation remain to be documented. This approach would allow us to completely understand the disease process. Hitherto, hormonal preparations that release luteinizing hormone from the anterior pituitary or have luteinizing hormone-like action are used

  10. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

    Science.gov (United States)

    Veit, Gudio; Avramescu, Radu G; Chiang, Annette N; Houck, Scott A; Cai, Zhiwei; Peters, Kathryn W; Hong, Jeong S; Pollard, Harvey B; Guggino, William B; Balch, William E; Skach, William R; Cutting, Garry R; Frizzell, Raymond A; Sheppard, David N; Cyr, Douglas M; Sorscher, Eric J; Brodsky, Jeffrey L; Lukacs, Gergely L

    2016-02-01

    More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes. Most of these mutations lead to compromised anion conductance at the apical plasma membrane of secretory epithelia and cause cystic fibrosis (CF) with variable disease severity. Based on the molecular phenotypic complexity of CFTR mutants and their susceptibility to pharmacotherapy, it has been recognized that mutations may impose combinatorial defects in CFTR channel biology. This notion led to the conclusion that the combination of pharmacotherapies addressing single defects (e.g., transcription, translation, folding, and/or gating) may show improved clinical benefit over available low-efficacy monotherapies. Indeed, recent phase 3 clinical trials combining ivacaftor (a gating potentiator) and lumacaftor (a folding corrector) have proven efficacious in CF patients harboring the most common mutation (deletion of residue F508, ΔF508, or Phe508del). This drug combination was recently approved by the U.S. Food and Drug Administration for patients homozygous for ΔF508. Emerging studies of the structural, cell biological, and functional defects caused by rare mutations provide a new framework that reveals a mixture of deficiencies in different CFTR alleles. Establishment of a set of combinatorial categories of the previously defined basic defects in CF alleles will aid the design of even more efficacious therapeutic interventions for CF patients.

  11. From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

    Science.gov (United States)

    Veit, Gudio; Avramescu, Radu G.; Chiang, Annette N.; Houck, Scott A.; Cai, Zhiwei; Peters, Kathryn W.; Hong, Jeong S.; Pollard, Harvey B.; Guggino, William B.; Balch, William E.; Skach, William R.; Cutting, Garry R.; Frizzell, Raymond A.; Sheppard, David N.; Cyr, Douglas M.; Sorscher, Eric J.; Brodsky, Jeffrey L.; Lukacs, Gergely L.

    2016-01-01

    More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes. Most of these mutations lead to compromised anion conductance at the apical plasma membrane of secretory epithelia and cause cystic fibrosis (CF) with variable disease severity. Based on the molecular phenotypic complexity of CFTR mutants and their susceptibility to pharmacotherapy, it has been recognized that mutations may impose combinatorial defects in CFTR channel biology. This notion led to the conclusion that the combination of pharmacotherapies addressing single defects (e.g., transcription, translation, folding, and/or gating) may show improved clinical benefit over available low-efficacy monotherapies. Indeed, recent phase 3 clinical trials combining ivacaftor (a gating potentiator) and lumacaftor (a folding corrector) have proven efficacious in CF patients harboring the most common mutation (deletion of residue F508, ΔF508, or Phe508del). This drug combination was recently approved by the U.S. Food and Drug Administration for patients homozygous for ΔF508. Emerging studies of the structural, cell biological, and functional defects caused by rare mutations provide a new framework that reveals a mixture of deficiencies in different CFTR alleles. Establishment of a set of combinatorial categories of the previously defined basic defects in CF alleles will aid the design of even more efficacious therapeutic interventions for CF patients. PMID:26823392

  12. Targeting F508del-CFTR to develop rational new therapies for cystic fibrosis

    Institute of Scientific and Technical Information of China (English)

    Zhi-wei CAI; Jia LIU; Hong-yu LI; David N SHEPPARD

    2011-01-01

    The mutation F508del is the commonest cause of the genetic disease cystic fibrosis (CF). CF disrupts the function of many organs in the body, most notably the lungs, by perturbing salt and water transport across epithelial surfaces. F508del causes harm in two principal ways. First,the mutation prevents delivery of the cystic fibrosis transmembrane conductance regulator (CFTR) to its correct cellular location,the apical(lumen-facing) membrane of epithelial cells. Second, F508del perturbs the Cl- channel function of CFTR by disrupting channel gating. Here, we discuss the development of rational new therapies for CF that target F508del-CFTR.We highlight how structural studies provide new insight into the role of F508 in the regulation of channel gating by cycles of ATP binding and hydrolysis. We emphasize the use of high-throughput screening to identify lead compounds for therapy development.These compounds include CFTR correctors that restore the expression of F508del-CFTR at the apical membrane of epithelial cells and CFTR potentiators that rescue the F508del-CFTR gating defect. Initial results from clinical trials of CFTR correctors and potentiators augur well for the development of small molecule therapies that target the root cause of CF: mutations in CFTR.

  13. Dataset of differential lipid raft and global proteomes of SILAC-labeled cystic fibrosis cells upon TNF -α stimulation.

    Science.gov (United States)

    Chhuon, C; Pranke, I; Borot, F; Tondelier, D; Lipecka, J; Fritsch, J; Chanson, M; Edelman, A; Ollero, M; Guerrera, I C

    2016-12-01

    Cystic fibrosis (CF) is a genetic disease due to mutations in the cystic fibrosis transmembrane regulator (CFTR), F508del-CFTR being the most frequent. Lipid raft-like microdomains (LRM) are regions of the plasma membrane that present a high cholesterol content and are insoluble to non-ionic detergents. LRM are essential functional and structural platforms that play an important role in the inflammatory response. CFTR is a known modulator of inflammation in LRM. Here we provide mass spectrometry data on the global impact of CFTR mutation and TNF-a stimulation on the LRM proteome. We used the Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC) approach to quantify and identify 332 proteins in LRM upon TNF-a stimulation in CF cells and 1381 for the global proteome. We report two detailed tables containing lists of proteins obtained by mass spectrometry and the immunofluorescence validation results for one of these proteins, the G-protein coupled receptor 5A. These results are associated with the article "Changes in lipid raft proteome upon TNF-α stimulation of cystic fibrosis cells" (Chhuon et al., in press [1]).

  14. Thyroid nodules with minimal cystic changes have a low risk of malignancy

    Energy Technology Data Exchange (ETDEWEB)

    Na, Dong Gyu; Kim, Dae Sik; Kim, Soo Jin [Dept. of Radiology, Human Medical Imaging and Intervention Center, Seoul (Korea, Republic of); Kim, Ji Hoon [Dept. of Radiology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2016-03-15

    The goal of this study was to determine the risk of malignancy of thyroid nodules with minimal cystic changes. A total of consecutive 1,000 thyroid nodules (≥1 cm) with final diagnoses from two institutions were included in this study. The risk of malignancy of thyroid nodules was analyzed according to the internal content, which was categorized as purely solid, minimally cystic (cystic changes ≤10%), and partially cystic (cystic changes >10%). We also assessed the risk of malignancy of nodules with minimal cystic changes depending on echogenicity and presence of any suspicious ultrasonografic (US) features. The overall frequency of purely solid, minimally cystic, and partially cystic nodules was 730/1,000 (73%), 61/1,000 (6.1%), and 209/1,000 (20.9%), respectively, with risks of malignancy of 14.8% (108/730), 3.3% (2/61), and 3.3% (7/209), respectively. The risk of malignancy of nodules with minimal cystic changes was significantly lower than that of purely solid nodules (P=0.013). The risk of malignancy of nodules with minimal cystic changes was also lower than that of purely solid nodules in the group of hypoechoic nodules (P=0.063) and in the group of nodules with suspicious US features (P=0.028), but was not significantly different from that of partially cystic nodules regardless of echogenicity or the presence of suspicious US features (P≥0.652). Thyroid nodules with minimal cystic changes have a low risk of malignancy, similar to that of partially cystic nodules regardless of echogenicity or the presence of suspicious US features. The US lexicon could define solid nodules as nodules with purely solid internal content in order to enhance the accuracy of estimated risks of malignancy.

  15. Chest CT features of cystic fibrosis in Korea: Comparison with non-cystic fibrosis diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yang, So Yeon; Lee, Kyung Soo; Kim, Tae Jung; Kim, Tae Sung [Dept. of Radiology, and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Cha, Min Jae [Dept. of Radiology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul (Korea, Republic of); Yoon, Hyun Jung [Dept. of Radiology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul (Korea, Republic of)

    2017-01-15

    Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features.

  16. Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives

    Directory of Open Access Journals (Sweden)

    Schmidt BZ

    2016-09-01

    Full Text Available Béla Z Schmidt,1 Jérémy B Haaf,2 Teresinha Leal,2 Sabrina Noel,2 1Stem Cell Biology and Embryology, Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, 2Louvain Center for Toxicology and Applied Pharmacology, Université Catholique de Louvain, Brussels, Belgium Abstract: 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. Keywords: high-throughput screening, drug repositioning, personalized medicine, precision medicine, potentiators, correctors

  17. Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders.

    Science.gov (United States)

    Bombieri, Cristina; Seia, Manuela; Castellani, Carlo

    2015-04-01

    Cystic fibrosis (CF) is characterized by remarkable variability in severity, rate of disease progression, and organ involvement. In spite of the considerable amount of data collected on the relationship between genotype and phenotype in CF, this is still a challenging matter of debate. Barriers to the interpretation of this connection are the large number of mutations in the CF transmembrane regulator (CFTR) gene, the difficulties in attributing several of them to a specific mode of dysfunction, and a limited number of the almost 2,000 mutations so far detected, which have been clinically annotated. In addition to that, the heterogeneity of clinical manifestations in individuals with the same CFTR genotypes indicates that disease severity is modulated by other genes and by environmental factors, of which the most relevant is possibly treatment in its aspects of appropriateness, early start in life, and adherence. The phenotype variability extends to conditions, named CFTR-related disorders, which are connected with CFTR dysfunction, but do not satisfy diagnostic criteria for CF. The current level of knowledge does not allow use of the CFTR genotype to predict individual outcome and cannot be used as an indicator of CF prognosis. This might change with the development of treatments targeting specific mutations and possibly capable of changing the natural history of the disease. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  18. "Bong lung" in cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Hauser Jenny

    2010-11-01

    Full Text Available Abstract Introduction Marijuana or "bong" lung has been recently described. Subjects typically develop large peripheral paraseptal lung bullae and are predisposed to spontaneous pneumothoraces. The underlying mechanism for bullae formation is uncertain, but probably relates to direct lung toxicity and repeated barotrauma as the smoker performs frequent valsalva manoeuvres in an attempt to derive a greater drug effect. Case presentation We describe a case of probable "bong lung" occurring in a 23-year-old Caucasian man with cystic fibrosis who had a history of recurrent pneumothoraces and unusual findings on sputum cytology. Conclusion Our case highlights the importance of questioning young adult cystic fibrosis patients about illicit drug use and the utility of sputum cytology and computed tomography scanning when patients present with pneumothoraces and deteriorations in clinical status.

  19. Antioxidant supplementation for lung disease in cystic fibrosis

    DEFF Research Database (Denmark)

    Ciofu, Oana; Lykkesfeldt, Jens

    2014-01-01

    BACKGROUND: Airway infection leads to progressive damage of the lungs in cystic fibrosis and oxidative stress has been implicated in the etiology. Supplementation of antioxidant micronutrients (vitamin E, vitamin C, ß-carotene and selenium) or glutathione may therefore potentially help maintain...... an oxidant-antioxidant balance. Current literature suggests a relationship between oxidative status and lung function. OBJECTIVES: To synthesize existing knowledge of the effect of antioxidants such as vitamin C, vitamin E, ß-carotene, selenium and glutathione in cystic fibrosis lung disease. SEARCH METHODS...... COLLECTION AND ANALYSIS: Two authors independently selected studies, extracted data and assessed the risk of bias in the included studies. We contacted trial investigators to obtain missing information. Primary outcomes are lung function and quality of life; secondary outcomes are oxidative stress...

  20. [Inhaled treatments in cystic fibrosis: what's new in 2013?].

    Science.gov (United States)

    Dubus, J-C; Bassinet, L; Chedevergne, F; Delaisi, B; Desmazes-Dufeu, N; Reychler, G; Vecellio, L

    2014-04-01

    In the past few years some new inhaled drugs and inhalation devices have been proposed for the treatment of cystic fibrosis. Breath-controlled nebulizers allow increased pulmonary deposition, with a lower variability and a shorter delivery time. The new dry powder formulations of tobramycin, colistine and mannitol require a change in the inhalation technique which must be slow and deep. In the field of the inhaled mucolytic drugs, hypertonic saline and mannitol have an indication in some patients. With regard to antibiotics, dry-powder tobramycin and colistine can be substituted for the same drug delivered by nebulization. Nebulized aztreonam needs more studies to determine its place. These new treatments represent a definite advance for cystic fibrosis patients and need to be known by all practitioners. Their position in our therapeutic arsenal remains to be accurately defined. Copyright © 2013 SPLF. Published by Elsevier Masson SAS. All rights reserved.

  1. Cystic Fibrosis-Related Diabetes in Children: An Update.

    Science.gov (United States)

    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.].

  2. MicroRNA Expression in Cystic Fibrosis Airway Epithelium

    Directory of Open Access Journals (Sweden)

    Catherine M. Greene

    2013-02-01

    Full Text Available MicroRNAs (miRs have emerged as major regulators of the protein content of a cell. In the most part, miRs negatively regulate target mRNA expression, with sets of miRs predicted to regulate certain signaling pathways. The miR expression profile of endobronchial brushings is altered in people with cystic fibrosis (CF compared to those without CF. How this impacts on CF has important implications for our growing understanding of the pathophysiology of CF lung disease and the development of new therapeutics to treat its pulmonary manifestations. Herein we discuss the potential consequences of altered miR expression in CF airway epithelium particularly with respect to cystic fibrosis transmembrane conductance regulator (CFTR expression, innate immunity and toll-like receptor signalling and explore how best to exploit these changes for therapeutic benefit.

  3. Multifunctional superparamagnetic nanoparticles for enhanced drug transport in cystic fibrosis

    Science.gov (United States)

    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.

  4. Host-Parasite Relationship in Cystic Echinococcosis: An Evolving Story

    Directory of Open Access Journals (Sweden)

    Alessandra Siracusano

    2012-01-01

    Full Text Available The larval stage of Echinococcus granulosus causes cystic echinococcosis, a neglected infectious disease that constitutes a major public health problem in developing countries. Despite being under constant barrage by the immune system, E. granulosus modulates antiparasite immune responses and persists in the human hosts with detectable humoral and cellular responses against the parasite. In vitro and in vivo immunological approaches, together with molecular biology and immunoproteomic technologies, provided us exciting insights into the mechanisms involved in the initiation of E. granulosus infection and the consequent induction and regulation of the immune response. Although the last decade has clarified many aspects of host-parasite relationship in human cystic echinococcosis, establishing the full mechanisms that cause the disease requires more studies. Here, we review some of the recent developments and discuss new avenues in this evolving story of E. granulosus infection in man.

  5. Cystic fibrosis school for 10-year-olds

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf

    2000-01-01

    on which they can make their own choices in order to improve their quality of life. In practical terms we make classes of 4-8 10-year-old children with CF. We give them 6 lessons of 3 hours. One lesson every second month. The lessons substitute a monthly visit. The psysiotherapist and the nurse teach...... give them a good basis on which they can make their own choices about how they want to live their lives with cystic fibrosis and with optimal quality of life.......Compliance or rather lack of compliance has always been a problem when treating patients with cystic fibrosis. The patients tend to drop the treatment more or less if the treatment gets too complicated or laboured. We have attempted a systematical education of our patients in a CF school...

  6. ATPase activity of the cystic fibrosis transmembrane conductance regulator.

    Science.gov (United States)

    Li, C; Ramjeesingh, M; Wang, W; Garami, E; Hewryk, M; Lee, D; Rommens, J M; Galley, K; Bear, C E

    1996-11-08

    The gene mutated in cystic fibrosis codes for the cystic fibrosis transmembrane conductance regulator (CFTR), a cyclic AMP-activated chloride channel thought to be critical for salt and water transport by epithelial cells. Plausible models exist to describe a role for ATP hydrolysis in CFTR channel activity; however, biochemical evidence that CFTR possesses intrinsic ATPase activity is lacking. In this study, we report the first measurements of the rate of ATP hydrolysis by purified, reconstituted CFTR. The mutation CFTRG551D resides within a motif conserved in many nucleotidases and is known to cause severe human disease. Following reconstitution the mutant protein exhibited both defective ATP hydrolysis and channel gating, providing direct evidence that CFTR utilizes ATP to gate its channel activity.

  7. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    Science.gov (United States)

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  8. Adenoid cystic carcinoma of the sublingual gland: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Ji Young [Dept. of Oral and Maxillofacial Surgery, School of Medicine, Jeju National University, Jeju (Korea, Republic of)

    2016-12-15

    Adenoid cystic carcinoma (ACC) of the sublingual gland is an extremely rare neoplasm. The clinicopathological characteristics of ACC are slow-growing swelling with or without ulceration, perineural spread, local recurrence, and distant metastasis. This report describes a 58-year-old male who had a slowly growing swelling without ulceration on the right side of the mouth floor that had been present for 1 month. In a radiological examination, the mass showed multilocular cystic features and no bony or tongue muscle invasion. No enlarged cervical lymph nodes were detected. Excisional biopsy and histological analysis showed that the lesion was ACC. In addition to reporting a rare case of ACC, this report also discusses the differential diagnosis and treatment of ACC with a review of the relevant literature.

  9. Cystic lymphangioma in the submandibular triangle in the adult

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Eun Kyung; Han, Won Jeong; Kim, Sang Joon [Dankook Univ., Seoul (Korea, Republic of)

    2001-09-15

    Cystic lymphangioma is an uncommon benign developmental tumor of the lymphatic system, seen rarely in adults. A 23-year-old man visited DKUDH complaining of the painless swelling in the right submandibular triangle area. It was reported that swelling had increased since 5 months ago. Clinically, fluctuant and mobile mass was palpated at the right submancivular area. CT scan showed a large, well-defined, homogenous low density mass, measuring 5.0X2.5X4.0 cm. T1W MRI scan demonstrated a large, multiseptated homogenous low signal mass with septum and rim enhancement. Proton-density and T2W MRI scan showed mass of high signal intensity. MRI scan was able to delineate better the enhanced multiseptation and extent of the lesion. Histopathologically, a lobulated cystic mass lined by a layer of flattened endothelium was observed.

  10. Neonatal orchitis mimicking cystic dysplasia of the testis.

    Science.gov (United States)

    Martin, George L; Cassell, Ian L S; deMello, Daphne E; Ritchey, Michael L

    2010-12-01

    Neonatal orchitis is an extremely rare disease, usually related to a congenital genitourinary anomaly. We present a 36 weeks' gestation infant who presented at 3 days old with a firm and enlarged right testicle. Testicular US revealed a heterogeneous right testicle with numerous cystic spaces as well as decreased testicular blood flow. The clinical concerns included testicular tumor and cystic dysplasia of the testis because of concurrent renal dysplasia. The scrotal/testicular area was without tenderness or overlying erythema. Radical inguinal orchiectomy revealed diffuse gram-negative orchitis.This case represents an atypical presentation of orchitis. This entity should be added to the differential diagnoses of testicular mass in the neonate even in the absence of physical findings suggestive of infection.

  11. Glycosylation and the cystic fibrosis transmembrane conductance regulator

    Directory of Open Access Journals (Sweden)

    Glick Mary Catherine

    2001-08-01

    Full Text Available Abstract The cystic fibrosis transmembrane conductance regulator (CFTR has been known for the past 11 years to be a membrane glycoprotein with chloride channel activity. Only recently has the glycosylation of CFTR been examined in detail, by O'Riordan et al in Glycobiology. Using cells that overexpress wild-type (wtCFTR, the presence of polylactosamine was noted on the fully glycosylated form of CFTR. In the present commentary the results of that work are discussed in relation to the glycosylation phenotype of cystic fibrosis (CF, and the cellular localization and processing of ΔF508 CFTR. The significance of the glycosylation will be known when endogenous CFTR from primary human tissue is examined.

  12. Pulmonary bacterial pathogens in cystic fibrosis patients and antibiotic therapy: a tool for the health workers

    OpenAIRE

    Coutinho, Henrique Douglas M.; Falcão-Silva,Vivyanne S.; Gonçalves, Gregório Fernandes

    2008-01-01

    Cystic fibrosis is the most common and best known genetic disease involving a defect in transepithelial Cl- transport by mutations in the CF gene on chromosome 7, which codes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). The most serious symptoms are observed in the lungs, augmenting the risk of bacterial infection. The objective of this review was to describe the bacterial pathogens colonizing patients with cystic fibrosis. A systematic search was conducted usin...

  13. Mesenteric fibromatosis with spontaneous cystic degeneration: a case report with US and CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Ko, Seog Wan; Lee, Ji Shin [Medical College, Seonam Univ., Kwangju (Korea, Republic of)

    2002-05-01

    Mesenteric fibromatosis is an uncommon benign neoplasm occurring in the mesentery or retroperitoneum, and presenting as a firm mass with infiltrative margins and homogeneous parenchyma without necrosis or a cystic component (1-4). Cystic change may occur, usually after prolonged medical treatment, but is extremely rare (5-7). We describe the US and CT findings in a case of mesenteric fibromatosis with spontaneous extensive cystic degeneration.

  14. Pediatric Multilocular Cystic Nephroma Extending into the Renal Pelvis and Ureter

    Directory of Open Access Journals (Sweden)

    Hasan Serkan Doğan

    2014-11-01

    Full Text Available Multilocular cystic nephroma (MCN is a rare tumor at the most benign end of the spectrum of the multilocular cystic neplasms of kidney. Nephrectomy is curative for MCN. In this case-report, we present a 16-month-old girl with a 10x15 cm multilocular cystic renal tumor extending into the renal pelvis and proximal ureter on the right side demonstrated on magnetic resonance imaging. Nephrectomy was performed. The pathology was completely consistent with MCN.

  15. Transcatheter Arterial Embolization of Cystic Artery Pseudoaneurysm in Acalculous Cholecystitis: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hyung Ook; Lee, Young Hwan [Dept. of Radiology, Daegu Catholic University College of Medicine, Daegu (Korea, Republic of); Kim, Young Hwan [Dept. of Diagnostic Radiology, Dongsan Medical Center, Keimyung University College of Medicine, Daegu (Korea, Republic of)

    2011-04-15

    A pseudoaneurysm of the cystic artery is a rare complication of cholecystitis, and is manifested by hemobilia or hematemesis. An early diagnosis is required for the successful treatment by cholecystectomy and ligation of the cystic artery. Herein, we report a case of a pseudoaneurysm of the cystic artery diagnosed by color Doppler ultrasonography and CT, and successfully treated by transcatheter arterial embolization with N-butyl cyanoacrylate in a high-risk surgical patient.

  16. Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada.

    Science.gov (United States)

    Daigneault, J; Aubin, G; Simard, F; De Braekeleer, M

    1991-09-01

    Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results showed no monthly or seasonal birth variation. It is likely that a bias owing to incomplete ascertainment might explain why some previous studies found a seasonal trend in the birth distribution of cystic fibrosis.

  17. [Supporting the family after a diagnosis of cystic fibrosis].

    Science.gov (United States)

    Courlet, Amélie; Dodane, Marie-Agnès; Garnier, Frédérique

    2015-01-01

    The diagnosis of cystic fibrosis can upset the relationship between parents and their baby. The announcement signals the disappearance of the "perfect child" and it can be associated with a feeling of guilt on the part of the parents. The child health nurse has a central role in supporting the family during this difficult period, in order to favour the parent-child bond. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  18. Cystic Fibrosis%囊性纤维化

    Institute of Scientific and Technical Information of China (English)

    李海潮

    2006-01-01

    囊性纤维化(Cystic Fibrosis,CF)的主要病生理改变为外分泌腺功能紊乱,可引起慢性肺部疾病、胰腺外分泌功能低下以及汗液氯化钠含量增高等特征性病变,好发于白种人.

  19. Pancreatic changes in cystic fibrosis: CT and sonographic appearances

    Energy Technology Data Exchange (ETDEWEB)

    Daneman, A. (Univ. of Toronto, Ontario); 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.

  20. Inspiratory muscle training in patients with cystic fibrosis

    OpenAIRE

    De Jong, W; van Aalderen, W.M.C.; Kraan, J.; Koeter, G. H.; van der Schans, C. P.

    2001-01-01

    Little information is available about the effects of inspiratory muscle training in patients with cystic fibrosis (CF). In this study the effects of inspiratory-threshold loading in patients with CF on strength and endurance of the inspiratory muscles, pulmonary function, exercise capacity, dyspnoea and fatigue were evaluated. Sixteen patients were assigned to one of two groups using the minimization method: eight patients in the training group and eight patients in the control group. The tra...

  1. [Huge cystic tumor in the left upper abdomen].

    Science.gov (United States)

    Dornbusch, J; Hasselmann, J

    2012-04-01

    ABTRACT: We report the case of a 71-year-old man with a cystic tumor in the left upper abdomen and a long-standing history of symptoms. After completing clinical tests and imaging studies a laparotomy was performed. The tumor was removed together with the first jejunal loop and bowel reconstruction was completed by hand-sewn anastomosis. Histopathological analysis revealed a gastrointestinal stromal tumor classified as high risk.

  2. Image-guided drainage of cystic vestibular schwannomata.

    Science.gov (United States)

    Barrett, Chris; Prasad, K S Manjunath; Hill, John; Johnson, Ian; Heaton, Judith M; Crossman, John E; Mendelow, Alexander D

    2010-01-01

    The management of vestibular schwannomata is controversial. Surveillance remains an acceptable option for elderly patients or those with small lesions. Stereoradiosurgery is also an option, while surgery is often preferred in younger patients with larger lesions. In elderly patients with lesions causing brainstem compression, craniotomy is a major undertaking. We report two cases of cystic cerebellopontine angle tumours in patients with co-morbidity, who were managed successfully with image-guided insertion of a cystoperitoneal shunt.

  3. Multicystic Benign Cystic Mesothelioma Presenting as a Pelvic Mass

    OpenAIRE

    Mazdak Momeni; Elena Pereira; Gennadiy Grigoryan; Konstantin Zakashansky

    2014-01-01

    Background. Benign cystic mesothelioma (BCM) is a rare tumor that arises from the abdominal peritoneum with a predilection to the pelvic peritoneum. For this reason, it can often mimic gynecologic malignancies. Case. A 47-year-old perimenopausal female presented reporting several weeks of abdominal distention associated with abdominal tenderness and constipation. Computed tomography revealed a 24 cm multiloculated pelvic mass, and tumor markers were notable for an elevated CA-125. The patient...

  4. A Huge Cystic Retroperitoneal Lymphangioma Presenting with Back Pain

    Science.gov (United States)

    Kubachev, Kubach; Abdullaev, Elbrus; Babyshin, Valentin; Neronov, Dmitriy; Abdullaev, Abakar

    2016-01-01

    Retroperitoneal lymphangioma is a rare location and type of benign abdominal tumors. The clinical presentation of this rare disease is nonspecific, ranging from abdominal distention to sepsis. Here we present a 73-year-old female patient with 3-month history of back pain. USG and CT revealed a huge cystic mass which was surgically excised and appeared to be lymphangioma on histopathology. PMID:27843456

  5. A rare cause for a neonatal cystic abdominal mass.

    Science.gov (United States)

    Castellani, Christoph; Petnehazy, Thomas; Gürtl-Lackner, Barbara; Saxena, Amulya K

    2013-01-01

    Intrauterine ovarian torsion is a rare event, but it is a possible cause for unilateral ovarian aplasia. Most commonly the ovary undergoes autolysis after torsion so that no tissue or remnants can be discovered on the involved side. We report a rare case of unilateral intrauterine torsion followed by autoamputation and abdominal reimplantation resulting in an intra-abdominal complex cystic mass with a review of the literature. Copyright © 2013 AAGL. Published by Elsevier Inc. All rights reserved.

  6. Pancreatic Cystic Fluid Reference Set — EDRN Public Portal

    Science.gov (United States)

    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

  7. Epithelioid Hemangioendothelioma of the Femur with Benign Cystic Appearance

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Jung Ah; Kang, Heung Sik [Dept. of Radiology, Seoul National University Bundang Hospital, Seongnam (Korea, Republic of); Kim, Yeo Goon [Dept. of Radiology and Institute of Radiation Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Chung, Jin Haeng [Dept. of Patholgy, Seoul National University Bundang Hospital, Seongnam (Korea, Republic of); Oh, Joo Han [Dept. of Orthopedic Surgery, Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2011-12-15

    An epithelioid hemangioendothelioma is an intermediate grade tumor between hemangioma and angiosarcoma that frequently shows marked enhancement because it is a vascular tumor. Herein, we describe a rare case of a malignant epithelioid hemangioendothelioma of the femur that was mistaken as a benign lesion such as a simple bone cyst or fibrous dysplasia because the tumor had a benign cystic appearance on MRI and its imaging findings showed a histopathologic correlation.

  8. Emergence of respiratory Streptococcus agalactiae isolates in cystic fibrosis patients

    OpenAIRE

    Vera Eickel; Barbara Kahl; Beatrice Reinisch; Angelika Dübbers; Peter Küster; Claudia Brandt; Barbara Spellerberg

    2009-01-01

    Streptococcus agalactiae is a well-known pathogen for neonates and immunocompromized adults. Beyond the neonatal period, S. agalactiae is rarely found in the respiratory tract. During 2002-2008 we noticed S. agalactiae in respiratory secretions of 30/185 (16%) of cystic fibrosis (CF) patients. The median age of these patients was 3-6 years older than the median age CF patients not harboring S. agalactiae. To analyze, if the S. agalactiae isolates from CF patients were clonal, further characte...

  9. Fetal cystic lung lesions: evaluation with magnetic resonance imaging.

    Science.gov (United States)

    Liu, Yu-Peng; Chen, Chih-Ping; Shih, Shin-Lin; Chen, Yi-Fang; Yang, Fei-Shih; Chen, Su-Chiu

    2010-06-01

    To investigate the contribution of magnetic resonance imaging (MRI) to the diagnosis of fetal cystic lung lesions found on routine prenatal ultrasound (US). Experienced radiologists retrospectively reviewed 34 fetal MRI studies performed in 20 fetuses (from 20 to 35 gestational weeks; including 14 repeat studies 10 weeks after the initial MRI), focusing on shape, signal characteristics, feeding artery, volume change, and location of the cystic lesions. Diagnoses were confirmed after birth by postnatal multidetector computed tomography (MDCT) and/or surgery. Bronchopulmonary sequestration (BPS) in the second trimester appeared as a well-defined, homogeneous, hyperintense mass (pure BPS) in eight cases or as a lobulated, inhomogeneous hyperintense mass (BPS mixed with congenital cystic adenomatoid malformation (CCAM)) in three cases. The feeding artery was visible in all 11 cases in the initial MRI, and regression of the mass was seen in 7 cases. As the mass regressed in the third trimester, the signal intensity decreased, becoming inhomogeneous, and the margins became lobulated. The mean initial ratio of the volume of the BPS lesion to the ipsilateral lung in lesions with partial regression was 82%; the mean initial ratio in lesions with nearly complete regression was 61%. CCAM (6) cases also appeared as a hyperintense lobulated mass, and as the lesions regressed, they decreased in size and signal intensity. As with BPS, the larger the lesion on initial MRI, the less likely it was to regress completely. Congenital lobar fluid overload in three cases appeared as a hyperintense, homogeneous lobe with stretched hilar vessels. Prenatal MRI is useful as a diagnostic tool complementary to US for evaluating fetal cystic lung lesions. Smaller lung lesions (<60%) may regress completely.

  10. Cystic Echinicoccosis of Cattle and Sheep in Ordu

    OpenAIRE

    Karaman, Ulku; Enginyurt, Özgür; Gürgör, Pınar Naile

    2015-01-01

    Objective: Cystic Echinococcosis (CE) a parasitic disease that affects both human and animal health, shows a broad distribution as well. Parasites are frequently seen in humans and animals living in less developed countries. It is difficult to diagnose in intermediate hosts since the clinical findings are not evident enough. Early diagnosis increases the success rate in the treatment of the disease.This disease, which closely concern human and animal health in Turkey,  is seen in Eastern, Nor...

  11. Extensive comedonal and cystic acne in Patau syndrome.

    Science.gov (United States)

    Torrelo, Antonio; Fernandez-Crehuet, Pablo; Del Prado, Elena; Martes, Pilar; Hernández-Martín, Angela; De Diego, Verónica; Carapeto, Francisco

    2010-01-01

    Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). Some skin defects have been reported in patients with Patau syndrome, such as scalp defects, glabellar stains, deep palmar creases, rocker-bottom feet, convex soles, hyperconvextity of the nails, and multiple hemangiomas. To our knowledge, widespread comedonal and cystic acne have not been previously reported in Patau syndrome.

  12. Cystic Fibrosis Gene Therapy in the UK and Elsewhere.

    Science.gov (United States)

    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.

  13. [Cystic fibrosis: new treatments targeting the CFTR protein].

    Science.gov (United States)

    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.

  14. Microbial Evaluation of Sputum of Cystic Fibrosis Patients

    Directory of Open Access Journals (Sweden)

    Majid Reza Akbarizadeh

    2012-04-01

    Full Text Available Background: Cystic fibrosis disease is a common hereditary autosomal recessive disorder in which loss of lung function caused by infectious factors is the most common cause of the patient’s death. In this study, the microbes in sputum of the cystic fibrosis patients have been studied during relapses of the disease.Materials and Methods: In this cross-sectional study, 129 sputum cultures of the patients with cystic fibrosis, who were hospitalized in Mofid Children's Hospital in Tehran during 2004-2009 with relapse of disease, were studied. The data were collected through census method and based on the information concerning (gender, age, type of germ and the appropriate antibiotics.Results: The most common germs in the sputum of these patients are Pseudomonas aeruginosa (approximately 36% and then respectively klebsiella (13%, Staphylococcus aureus (9.3% and Streptococcus pneumoniae (5.4%. Examination of antibiogram showed that these germs give an appropriate response to antibiotics such as Ceftazidime, vancomycin, imipenem, ciprofloxacin, azithromycin, rifampin and largely to aminoglycosides.Conclusion: Considering the more prevalence of Pseudomonas aeruginosa, combined therapy with ceftazidime or imipenem along with aminoglycoside and further treatment with oral azithromycin are recommended. More studies in this area are necessary.

  15. The MRI appearance of cystic lesions around the knee

    Energy Technology Data Exchange (ETDEWEB)

    McCarthy, Catherine L.; McNally, Eugene G. [Department of Radiology, Nuffield Orthopaedic Centre, Windmill Road, OX3 7LD, Headington, Oxford (United Kingdom)

    2004-04-01

    This review presents a comprehensive illustrated overview of the wide variety of cystic lesions around the knee. The aetiology, clinical presentation, MRI appearances and differential diagnosis are discussed. Bursae include those related to the patella as well as pes anserine, tibial collateral ligament, semimembranosus-tibial collateral ligament, iliotibial and fibular collateral ligament-biceps femoris. The anatomical extension, imaging features and clinical significance of meniscal cysts are illustrated. Review of ganglia includes intra-articular, extra-articular, intraosseous and periosteal ganglia, highlighting imaging findings and differential diagnoses. The relationship between proximal tibiofibular joint cysts and intraneural peroneal nerve ganglia is discussed. Intraosseous cystic lesions, including insertional and degenerative cysts, as well as lesions mimicking cysts of the knee are described and illustrated. Knowledge of the location, characteristic appearance and distinguishing features of cystic masses around the knee as well as potential imaging pitfalls such as normal anatomical recesses and atypical cyst contents on MR imaging aids in allowing a specific diagnosis to be made. This will prevent unnecessary additional investigations and determine whether intra-articular surgery or conservative management is appropriate. (orig.)

  16. Care of the adult patients with cystic fibrosis.

    Science.gov (United States)

    Perino, B; Trevisan, A; Falchetti, A; Gaia, E; Petrarulo, M

    1993-12-01

    Although no therapeutic breakthrough has taken place, the life expectancy of patients with cystic fibrosis (CF) has dramatically increased in the last 20 yrs. Nowadays, more than 80% of the patients outlive 18 yrs of age, with a mean survival age approaching 28 yrs. These favourable results are due mainly to early diagnosis and continuous treatment in specialized centres. The main therapeutic items are: prevention and early treatment of lung infections, mainly due to Pseudomonas aeruginosa, drainage of bronchial secretions (postural drainage, forced expiratory techniques, positive-expiratory-pressure mask, autogenic drainage,...), substitutive therapy with pancreatic enzymes and hypercaloric diet. Thus cystic fibrosis is increasingly a disease which involves adults, with many related problems, which span from the difficulties of prescribing an effective antibiotic therapy in cases with multiple resistances, to combining the need for a long daily physiotherapy schedule with school or a working life. Sexual problems and related psychological troubles are an important issue in the management of cystic fibrosis in adult patients, and are accordingly treated.

  17. Transtracheal aspiration in pulmonary infection in children with cystic fibrosis.

    Science.gov (United States)

    Brook, I; Fink, R

    1983-01-01

    Six transtracheal aspirations (TTA) and expectorated sputum specimens were collected from four children suffering from cystic fibrosis who had pulmonary infection. Specimens obtained from both sites were cultured for aerobic bacteria and TTA aspirates were also cultured for anaerobes. Differences in bacteria isolated in TTA and sputum aspirates were present in all instances. Six isolates were recovered in both sites (three Pseudomonas aeruginosa, two Staphylococcus aureus and one Aspergillus flavus). Five aerobic isolates were recovered only in the expectorated sputum and not in TTA aspirations (two Klebsiella pneumoniae and one each of P. aeruginosa, Escherichia coli and Proteus mirabilis). Nine organisms were isolated only from the TTA (two each of Veillonella parvula and Alpha hemolytic streptococci, and one each of Bacteroides fragilis, B. melaninogenicus, Lactobacillus sp., Haemophilus influenzae and Gamma hemolytic streptococci). The recovery of anaerobic organisms from four of the six TTA specimens suggests a possible role for these organisms in the etiology of pulmonary infection in cystic fibrosis. We found TTA to be helpful in the bacterial diagnosis and management of pulmonary infections in cystic fibrosis.

  18. Personalized medicine for cystic fibrosis: establishing human model systems.

    Science.gov (United States)

    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. © 2015 Wiley Periodicals, Inc.

  19. Diagnosis and Management of Cystic Lesions of the Pancreas

    Directory of Open Access Journals (Sweden)

    Niraj Jani

    2011-01-01

    Full Text Available Pancreatic cysts are challenging lesions to diagnose and to treat. Determining which of the five most common diagnoses—pancreatic pseudocyst, serous cystic neoplasm (SCN, solid pseudopapillary neoplasm (SPN, mucinous cystic neoplasm (MCN, and intraductal mucinous papillary neoplasm (IPMN—is likely the correct one requires the careful integration of many historical, radiographic, laboratory, and other factors, and management is markedly different depending on the type of cystic lesion of the pancreas. Pseudocysts are generally distinguishable based on historical, clinical and radiographic characteristics, and among the others, the most important differentiation is between the mucin-producing MCN and IPMN (high risk for cancer versus the serous SCN and SPN (low risk for cancer. EUS with FNA and cyst-fluid analysis will continue to play an important role in diagnosis. Among mucinous lesions, those that require treatment (resection currently are any MCN, any MD IPMN, and BD IPMN larger than 3 cm, symptomatic, or with an associated mass, with the understanding that SCN or pseudocysts may be removed inadvertently due to diagnostic inaccuracy, and that a certain proportion of SPN will indeed be malignant at the time of removal. The role of ethanol ablation is under investigation as an alternative to resection in selected patients.

  20. CFTR and Ca2+ signaling in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Fabrice eAntigny

    2011-10-01

    Full Text Available Among the diverse physiological functions exerted by calcium signaling in living cells, its role in the regulation of protein biogenesis and trafficking remains incompletely understood. In cystic fibrosis (CF disease the most common CFTR (Cystic Fibrosis Transmembrane conductance Regulator mutation, F508del-CFTR generates a misprocessed protein that is abnormally retained in the endoplasmic reticulum (ER compartment, rapidly degraded by the ubiquitine/proteasome pathway and hence absent at the plasma membrane of CF epithelial cells. Recent studies have demonstrated that intracellular calcium signals consequent to activation of apical G protein-coupled receptors (GPCRs by different agonists are increased in CF airway epithelia. Moreover, the regulation of various intracellular calcium storage compartments, such as ER is also abnormal in CF cells. Although the molecular mechanism to explain this increase remains puzzling in epithelial cells, the F508del-CFTR mutation is proposed to be the origin of abnormal Ca2+ influx linking the calcium signaling to CFTR pathobiology. This article reviews the relationships between CFTR and calcium signaling in the context of the genetic disease cystic fibrosis.