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Sample records for adenoid cystic cancer

  1. Bortezomib Followed by the Addition of Doxorubicin at Disease Progression in Treating Patients With Locally Advanced, Recurrent, or Metastatic Adenoid Cystic Carcinoma (Cancer) of the Head and Neck

    ClinicalTrials.gov

    2013-01-23

    Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Salivary Gland Adenoid Cystic Carcinoma; Stage III Adenoid Cystic Carcinoma of the Oral Cavity; Stage III Salivary Gland Cancer; Stage IV Adenoid Cystic Carcinoma of the Oral Cavity; Stage IV Salivary Gland Cancer

  2. Lapatinib in Treating Patients With Recurrent and/or Metastatic Adenoid Cystic Cancer or Other Salivary Gland Cancers

    ClinicalTrials.gov

    2013-10-10

    High-grade Salivary Gland Carcinoma; High-grade Salivary Gland Mucoepidermoid Carcinoma; Low-grade Salivary Gland Carcinoma; Low-grade Salivary Gland Mucoepidermoid Carcinoma; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Salivary Gland Acinic Cell Tumor; Salivary Gland Adenocarcinoma; Salivary Gland Adenoid Cystic Carcinoma; Salivary Gland Malignant Mixed Cell Type Tumor

  3. C-kit induces epithelial-mesenchymal transition and contributes to salivary adenoid cystic cancer progression

    PubMed Central

    Li, Kai-de; Zheng, Min; Chen, Wei; Ma, Xiang-rui; Geng, Ning; Chen, Qian-ming; Chen, Yu; Liang, Xin-hua

    2014-01-01

    Epithelial–mesenchymal transition (EMT) is associated with salivary adenoid cystic cancer (ACC) progression and metastasis. Here, we report that ectopic overexpression of c-kit in ACC cell lines is sufficient for acquisition of mesenchymal traits, enhanced cell invasion, along with stem cell properties defined by the presence of a CD133 + /CD44 + cell subpopulation. c-kit positively regulated expression of known EMT inducers, also activating TGF-β to contribute to EMT. c-kit itself was induced by TGF-β in ACC cell lines and required for TGF-β–induced EMT. Xenograft experiments showed that c-kit cooperated with oncogenic Ras to promote tumorigenesis in vivo. Finally, in human specimens of ACC, we found that c-kit was abnormally overexpressed and correlated with the prognosis of ACC. Our findings define an important function for c-kit in ACC progression by orchestrating EMT, and they implicate this gene product as a marker of poor prognosis in this disease. PMID:24721839

  4. Management of Adenoid Cystic Carcinoma of the Breast: A Rare Cancer Network Study

    SciTech Connect

    Khanfir, Kaouthar; Kallel, Adel; Villette, Sylviane; Belkacemi, Yazid; Vautravers, Claire; Nguyen, TanDat; Miller, Robert; Li Yexiong; Taghian, Alphonse G.; Boersma, Liesbeth; Poortmans, Philip; Goldberg, Hadassah; Vees, Hansjorg; Senkus, Elzbieta; Igdem, Sefik; Ozsahin, Mahmut; Jeanneret Sozzi, Wendy

    2012-04-01

    Background: Mammary adenoid cystic carcinoma (ACC) is a rare breast cancer. The aim of this retrospective study was to assess prognostic factors and patterns of failure, as well as the role of radiation therapy (RT), in ACC. Methods: Between January 1980 and December 2007, 61 women with breast ACC were treated at participating centers of the Rare Cancer Network. Surgery consisted of lumpectomy in 41 patients and mastectomy in 20 patients. There were 51(84%) stage pN0 and 10 stage cN0 (16%) patients. Postoperative RT was administered to 40 patients (35 after lumpectomy, 5 after mastectomy). Results: With a median follow-up of 79 months (range, 6-285), 5-year overall and disease-free survival rates were 94% (95% confidence interval [CI], 88%-100%) and 82% (95% CI, 71%-93%), respectively. The 5-year locoregional control (LRC) rate was 95% (95% CI, 89%-100%). Axillary lymph node dissection or sentinel node biopsy was performed in 84% of cases. All patients had stage pN0 disease. In univariate analysis, survival was not influenced by the type of surgery or the use of postoperative RT. The 5-year LRC rate was 100% in the mastectomy group versus 93% (95% CI, 83%-100%) in the breast-conserving surgery group, respectively (p = 0.16). For the breast-conserving surgery group, the use of RT significantly correlated with LRC (p = 0.03); the 5-year LRC rates were 95% (95% CI, 86%-100%) for the RT group versus 83% (95% CI, 54%-100%) for the group receiving no RT. No local failures occurred in patients with positive margins, all of whom received postoperative RT. Conclusion: Breast-conserving surgery is the treatment of choice for patients with ACC breast cancer. Axillary lymph node dissection or sentinel node biopsy might not be recommended. Postoperative RT should be proposed in the case of breast-conserving surgery.

  5. Rehabilitation of an Advanced Case of Adenoid Cystic Carcinoma

    PubMed Central

    Volpato, Luiz Evaristo Ricci; Caldas, Lorena Frange; Castro, Paulo Henrique de Souza; de Carvalhosa, Artur Aburad; Volpato, Maria Carmen Palma Faria; Bandéca, Matheus Coelho; Borges, Álvaro Henrique

    2015-01-01

    Adenoid cystic carcinoma is a cancer of the salivary gland that primarily affects the parotid, submandibular, and accessory salivary glands. Its growth is slow and it has infiltrative nature. A 46-year-old female patient coming from the rural area presented a lesion on the palate and reported pain in the region for three years. After incisional biopsy, and histopathological diagnosis of adenoid cystic carcinoma of the cribriform type of minor salivary gland, superior hemimaxillectomy and adjuvant treatment with radiotherapy and maxillofacial prosthetic rehabilitation were performed. PMID:25709844

  6. Experimental study on inhibition of the growth of human adenoid cystic cancer cells by RNA interference targeting against survivingene

    PubMed Central

    Wang, Xin; Xiong, Yu; Zhang, Congji; Zhou, Jixiang; Yang, Jun; Wang, Kun; Xia, Xiyan

    2016-01-01

    Objective: To observe the influence of RNA interference targeting against survivin gene on the biological behaviors of human adenoid cystic cancer (ACC) cells and propose the action mechanism. Method: Specific siRNA (small interfering RNA) was constructed and transfected into ACC-2 cells using liposomes. The expressions of survivin and Caspase-3 in the transfected ACC-2 cells were detected by Western Blot and RT-PCR. Cell apoptosis was detected by transmission electron microscopy, TUNEL method and flow cytometry; ultrastructural changes and cell cycles were observed. Results: Recombinant siRNA interference plasmid specifically targeting against survivin gene was constructed successfully. Survivin protein expression in the transfected ACC-2 cells was downregulated significantly, while Caspase-3 protein and mRNA expressions were upregulated and cell proliferation was inhibited considerably. Conclusion: Recombinant siRNA interference plasmid inhibited survivin mRNA and protein expressions at high efficiency, thereby inhibiting the proliferation of ACC cells. PMID:27158333

  7. Adenoid cystic carcinoma of the nasopharynx after previous adenoid irradiation

    SciTech Connect

    Sofferman, R.A.; Heisse, J.W. Jr.

    1985-04-01

    In 1978, Pratt challenged the otolaryngology community to identify an incidence of malignancy in individuals who have previously received radium therapy to the nasopharyngeal lymphoid tissues. This case report is a direct response to that quest and presents a well documented adenoid cystic carcinoma evolving 23 years after radium applicator treatment to the fossa of Rosenmuller. Although a cause-and-effect relationship cannot be scientifically proven, the case history raises several important questions concerning the stimulating effects of radiation on the later onset of frank malignancy.

  8. Vorinostat in Treating Patients With Locally Advanced, Recurrent, or Metastatic Adenoid Cystic Carcinoma

    ClinicalTrials.gov

    2016-03-10

    Recurrent Oral Cavity Adenoid Cystic Carcinoma; Recurrent Salivary Gland Carcinoma; Salivary Gland Adenoid Cystic Carcinoma; Stage III Major Salivary Gland Carcinoma; Stage III Oral Cavity Adenoid Cystic Carcinoma; Stage IVA Major Salivary Gland Carcinoma; Stage IVA Oral Cavity Adenoid Cystic Carcinoma; Stage IVB Major Salivary Gland Carcinoma; Stage IVB Oral Cavity Adenoid Cystic Carcinoma; Stage IVC Major Salivary Gland Carcinoma; Stage IVC Oral Cavity Adenoid Cystic Carcinoma; Tongue Carcinoma

  9. The mutational landscape of adenoid cystic carcinoma.

    PubMed

    Ho, Allen S; Kannan, Kasthuri; Roy, David M; Morris, Luc G T; Ganly, Ian; Katabi, Nora; Ramaswami, Deepa; Walsh, Logan A; Eng, Stephanie; Huse, Jason T; Zhang, Jianan; Dolgalev, Igor; Huberman, Kety; Heguy, Adriana; Viale, Agnes; Drobnjak, Marija; Leversha, Margaret A; Rice, Christine E; Singh, Bhuvanesh; Iyer, N Gopalakrishna; Leemans, C Rene; Bloemena, Elisabeth; Ferris, Robert L; Seethala, Raja R; Gross, Benjamin E; Liang, Yupu; Sinha, Rileen; Peng, Luke; Raphael, Benjamin J; Turcan, Sevin; Gong, Yongxing; Schultz, Nikolaus; Kim, Seungwon; Chiosea, Simion; Shah, Jatin P; Sander, Chris; Lee, William; Chan, Timothy A

    2013-07-01

    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 exome or whole-genome sequences of 60 ACC tumor-normal pairs. These analyses identified a low exonic somatic mutation rate (0.31 non-silent events per megabase) and wide mutational diversity. Notably, we found mutations in genes encoding chromatin-state regulators, such as SMARCA2, CREBBP and KDM6A, suggesting that there is aberrant epigenetic regulation in ACC oncogenesis. Mutations in genes central to the DNA damage response and protein kinase A signaling also implicate these processes. We observed MYB-NFIB translocations and somatic mutations in MYB-associated genes, solidifying the role of these aberrations as critical events in ACC. Lastly, we identified recurrent mutations in the FGF-IGF-PI3K pathway (30% of tumors) that might represent new avenues for therapy. Collectively, our observations establish a molecular foundation for understanding and exploring new treatments for ACC. PMID:23685749

  10. Adenoid Cystic Carcinoma of Child: A Rare Case

    PubMed Central

    Sherubin, J Eugenia; Agnihotri, PG; Sangeetha, GS

    2014-01-01

    ABSTRACT% Adenoid cystic carcinoma (ACC) is the second most common malignant tumor affecting both major and minor salivary glands. Clinically, it is a slowly growing tumor with high propensity for local invasion, recurrence and distant metastasis. It is predominantly seen in the ffith and sixth decades of life. Here, we report a rare case of ACC affecting the right maxilla of a 12-year-old girl. How to cite this article: Mathai M, Sherubin JE, Agnihotri PG, Sangeetha GS. Adenoid Cystic Carcinoma of Child: A Rare Case. Int J Clin Pediatr Dent 2014;7(3):206-208. PMID:25709303

  11. Adenoid Cystic Carcinoma of the Buccal Mucosa: A Case Report with Review of Literature

    PubMed Central

    S, Vidyalakshmi; R, Aravindhan

    2014-01-01

    Minor salivary gland neoplasms of the buccal mucosa are relatively uncommon. Adenoid cystic carcinoma (ACC), a well-defined entity, occurs most of the times in the parotid, submandibular glands and palate, as far as the intraoral site is concerned. Adenoid cystic carcinoma tends to have an indolent, extended clinical course with wide local infiltration and late distant metastases. We are presenting a case of an adenoid cystic carcinoma of the buccal mucosa in a 48-year-old female patient. PMID:24783155

  12. Adenoid Cystic Carcinoma of Accessory Parotid Gland: A Case Report.

    PubMed

    Das, Somdipto; Nayak, Umanath K; Buggavetti, Rahul; Sekhar, Shobana

    2016-05-01

    The accessory parotid gland is salivary gland tissue separated from the main gland at a variable distance. This gland is histologically similar to the main gland, but has a higher incidence of malignant neoplasms than the main gland. Regarding the various malignant neoplasms, studies have shown higher incidences of mucoepidermoid carcinoma, with less than 2% being adenoid cystic carcinoma. We present a case of swelling in the midcheek region that, after clinical examination, was diagnosed as a case of neoplasm of the accessory parotid gland. On the basis of auxiliary investigations including intraoperative frozen section, it was concluded that it was adenoid cystic carcinoma, grade I, and after wide surgical resection, the tumor was removed without undergoing superficial parotidectomy. The patient received postoperative radiotherapy (RT) and was followed for 14 months without any recurrence or substantial facial asymmetry. PMID:26851989

  13. Thoracoscopic tracheal resection and reconstruction for adenoid cystic carcinoma.

    PubMed

    Jiao, Wenjie; Zhu, Dezhang; Cheng, Zhaozhong; Zhao, Yandong

    2015-01-01

    We describe a novel technique of thoracoscopic circumferential tracheal resection and end-to-end anastomosis. A 60-year-old woman presented with wheezing and progressive dyspnea. Computed tomography scan revealed a mass at the lower trachea, and a nitinol mesh stent was implanted by bronchoscopy. After 2 weeks, a complete thoracoscopic tracheal resection and reconstruction was performed. The postoperative course was uneventful. The final pathologic examination confirmed the diagnosis of primary adenoid cystic carcinoma of the trachea. PMID:25555982

  14. Cutaneous metastasis of breast adenoid cystic carcinoma to the scalp.

    PubMed

    Little, Anthony J; Seline, Alison E; Swick, Brian L; Wanat, Karolyn A

    2016-08-01

    Adenoid cystic carcinoma (ACC) is a tumor that can be of primary cutaneous origin or secondary to metastatic disease, most commonly salivary origin. Aside from primary cutaneous and salivary types, ACC of the breast is a rare, more indolent variant. Cutaneous metastases secondary to breast ACC is exceedingly uncommon and not previously reported to our knowledge. We present the case of a 67-year-old woman who developed cutaneous metastasis from primary breast ACC. PMID:26968987

  15. Whole-Genome Sequencing of Salivary Gland Adenoid Cystic Carcinoma.

    PubMed

    Rettig, Eleni M; Talbot, C Conover; Sausen, Mark; Jones, Sian; Bishop, Justin A; Wood, Laura D; Tokheim, Collin; Niknafs, Noushin; Karchin, Rachel; Fertig, Elana J; Wheelan, Sarah J; Marchionni, Luigi; Considine, Michael; Fakhry, Carole; Papadopoulos, Nickolas; Kinzler, Kenneth W; Vogelstein, Bert; Ha, Patrick K; Agrawal, Nishant

    2016-04-01

    Adenoid cystic carcinomas (ACC) of the salivary glands are challenging to understand, treat, and cure. To better understand the genetic alterations underlying the pathogenesis of these tumors, we performed comprehensive genome analyses of 25 fresh-frozen tumors, including whole-genome sequencing and expression and pathway analyses. In addition to the well-describedMYB-NFIBfusion that was found in 11 tumors (44%), we observed five different rearrangements involving theNFIBtranscription factor gene in seven tumors (28%). Taken together,NFIBtranslocations occurred in 15 of 25 samples (60%, 95% CI, 41%-77%). In addition, mRNA expression analysis of 17 tumors revealed overexpression ofNFIBin ACC tumors compared with normal tissues (P= 0.002). There was no difference inNFIBmRNA expression in tumors withNFIBfusions compared with those without. We also report somatic mutations of genes involved in the axonal guidance and Rho family signaling pathways. Finally, we confirm previously described alterations in genes related to chromatin regulation and Notch signaling. Our findings suggest a separate role forNFIBin ACC oncogenesis and highlight important signaling pathways for future functional characterization and potential therapeutic targeting.Cancer Prev Res; 9(4); 265-74. ©2016 AACR. PMID:26862087

  16. Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

    PubMed Central

    Tan, Marietta; Smith, Ian M.; Califano, Joseph A.; El-Naggar, Adel K.; Ha, Patrick K.

    2009-01-01

    Background The MitoChip v2.0 resequencing array is an array-based technique allowing for accurate and complete sequencing of the mitochondrial genome. No studies have investigated mitochondrial mutation in salivary gland adenoid cystic carcinomas. Methodology The entire mitochondrial genome of 22 salivary gland adenoid cystic carcinomas (ACC) of salivary glands and matched leukocyte DNA was sequenced to determine the frequency and distribution of mitochondrial mutations in ACC tumors. Principal Findings Seventeen of 22 ACCs (77%) carried mitochondrial mutations, ranging in number from 1 to 37 mutations. A disproportionate number of mutations occurred in the D-loop. Twelve of 17 tumors (70.6%) carried mutations resulting in amino acid changes of translated proteins. Nine of 17 tumors (52.9%) with a mutation carried an amino acid changing mutation in the nicotinamide adenine dinucleotide dehydrogenase (NADH) complex. Conclusions/Significance Mitochondrial mutation is frequent in salivary ACCs. The high incidence of amino acid changing mutations implicates alterations in aerobic respiration in ACC carcinogenesis. D-loop mutations are of unclear significance, but may be associated with alterations in transcription or replication. PMID:20041111

  17. Adenoid cystic carcinoma of the upper airway mimicking a thyroid tumor: A case report

    PubMed Central

    Aldrees, Turki; Alanazi, Abdullah; Fatani, Hanadi A.; Samman, Abdulhadi; Aldhahri, Saleh F.

    2016-01-01

    Adenoid cystic carcinoma (ACC) is a rare malignant tumor, reportedly representing <1% of all head and neck cancers. There have been few reported cases of ACC of the upper airway presenting as a midline mass. This is the case report of a 47-year-old female patient who presented with such a midline neck mass. The mass was approached and investigated as a thyroid mass, but was ultimately found to be a tracheal tumor with thyroid invasion. We herein discuss in detail the patient history, investigation and treatment.

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

    PubMed Central

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

    2013-01-01

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

  19. Protein and mRNA characterization in high and low metastasis adenoid cystic carcinoma cell lines.

    PubMed

    Yang, Jie-lin; Zhu, Nai-shuo; Wang, Ying; Guan, Xiao-feng; Zheng, Zhao-xin

    2004-12-01

    Metastasis and invasion, the important characteristics of malignant tumors, are closely associated with a series of changes in the expression of genes and proteins. In this study, we compare mRNA and protein expression in high and low metastasis adenoid cystic carcinoma cell lines by mRNA suppression subtractive hybridization and two-dimensional electrophoresis combined with peptide mass fingerprint analysis. 34 differentially expressed genes were obtained using suppression subtractive hybridization experiments including 6 highly expressed gene sequences in the high metastasis cell line, and 28 in the low metastasis cell line. RNA dot blot hybridization further confirmed the results after excluding false positives. For protein analysis, ten significantly different protein spots were detected using two-dimensional gel electrophoresis technique combined with matrix-assisted laser desorption/ionization time-of-flight mass spectrometer (MALDI- TOF-MS). The results then compare with the SWISS PROT database. These results suggest that high tumor metastasis of adenoid cystic carcinoma is associated with multiple genes whose function include angiogenesis, protein synthesis, signal transduction, modulation of cell cycle, molecular chaperones, and immune co-stimulating molecule. Moreover, the results of the phenotypic function-related expression mapping analysis at the mRNA and protein level revealed obvious complementarities, providing important clues for further study of the molecular mechanism of metastasis, metastasis control and possible targets for cancer gene therapy. PMID:15663007

  20. Solid Variant of Adenoid Cystic Carcinoma: Difficulties in Diagnostic Recognition.

    PubMed

    Ben Salha, Imen; Bhide, Shree; Mourtzoukou, Despoina; Fisher, Cyril; Thway, Khin

    2016-08-01

    Adenoid cystic carcinoma (ACC) is a malignant neoplasm that mainly affects the salivary glands but has been described in many other anatomical sites. It is composed of basaloid cells with myoepithelial/basal cell differentiation and ductal epithelial cells that proliferate in a fibrous stroma, with variable amounts of myxohyaline material. Three patterns (cribriform, tubular, and solid) occur, and the solid variant is characterized by a predominant compact sheet-like and nested pattern of rounded basaloid cells lacking obvious cribriform or tubular architecture. The solid variant has significant morphological and immunohistochemical overlap with a large range of neoplasms of different lineages, including other carcinomas and sarcomas. We describe a case of solid variant ACC of the paranasal sinuses, which showed an almost entirely solid pattern of growth (in >95% of cells) and which on initial biopsy showed no features of classical ACC. This highlights the potential for diagnostic misinterpretation with a variety of other neoplasms, which is particularly important because of the significant difference in treatment for ACC and tumors in its differential diagnosis. PMID:27069025

  1. Adenoid cystic carcinoma of the lacrimal gland: a case report.

    PubMed

    Naugle, T; Tepper, D J; Haik, B G

    1994-03-01

    A 70-year-old woman was referred to our clinic for evaluation and treatment of a recurring case of adenoid cystic carcinoma of the lacrimal gland. She had been diagnosed with this tumor three years earlier, and a local resection was attempted on two occasions. We encountered this patient on the third recurrence of the tumor, and a thorough work-up revealed extensive local involvement but no metastases. A total exenteration of the right orbit was then performed with aggressive resection of local extension followed by irradiation. Thirteen years later, our patient presented with metastases throughout her scalp. She died shortly thereafter, having survived a total of 16.5 years after the time of her initial treatment and 13 years after exenteration with bony removal of the orbit and irradiation. A review of the literature reveals that this patient had one of the longest reported survival times in the literature from the time of initial treatment. Also noteworthy is the 13 years this patient survived after aggressive surgical resection combined with radiotherapy following two previous incomplete resections. PMID:8193073

  2. Comprehensive Cytomorphologic Analysis of Pulmonary Adenoid Cystic Carcinoma: Comparison to Small Cell Carcinoma and Non-pulmonary Adenoid Cystic Carcinoma

    PubMed Central

    Kim, Seokhwi; Chu, Jinah; Kim, Hojoong; Han, Joungho

    2015-01-01

    Background: Cytologic diagnosis of pulmonary adenoid cystic carcinoma (AdCC) is frequently challenging and differential diagnosis with small cell carcinoma is often difficult. Methods: Eleven cytologically diagnosed cases of pulmonary AdCC were collected and reviewed according to fifteen cytomorphologic characteristics: small cell size, cellular uniformity, coarse chromatin, hyperchromasia, distinct nucleolus, frequent nuclear molding, granular cytoplasm, organoid cluster, sheet formation, irregular border of cluster, hyaline globule, hyaline basement membrane material, individual cell necrosis or apoptotic body, and necrotic background. Twenty cases of small cell carcinoma and fifteen cases of non-pulmonary AdCC were also reviewed for the comparison. Results: Statistically significant differences were identified between pulmonary AdCC and small cell carcinoma in fourteen of the fifteen cytomorphologic criteria (differences in sheet formation were not statistically significant). Cellular uniformity, distinct nucleolus, granular cytoplasm, distinct cell border, organoid cluster, hyaline globule, and hyaline basement membrane material were characteristic features of AdCC. Frequent nuclear molding, individual cell necrosis, and necrotic background were almost exclusively identified in small cell carcinoma. Although coarse chromatin and irregular cluster border were observed in both, they favored the diagnosis of small cell carcinoma. Hyaline globules were more frequently seen in non-pulmonary AdCC cases. Conclusions: Using the fifteen cytomorphologic criteria described by this study, pulmonary AdCC could be successfully distinguished from small cell carcinoma. Such a comprehensive approach to an individual case is recommended for the cytologic diagnosis of pulmonary AdCC. PMID:26477588

  3. Human Papillomavirus-Related Carcinoma with Adenoid Cystic-Like Features: A Peculiar Variant of Head and Neck Cancer Restricted to the Sinonasal Tract

    PubMed Central

    Bishop, Justin A.; Ogawa, Takenori; Stelow, Edward B.; Moskaluk, Christopher A.; Koch, Wayne M.; Pai, Sara I.; Westra, William H.

    2012-01-01

    HPV-related carcinomas of the head and neck are characterized by a predilection for the oropharynx, a non-keratinizing squamous morphology, and infection with the HPV 16 type; but comprehensive HPV testing across all head and neck sites has shown that the pathologic features of HPV-related carcinoma may be more wide-ranging than initially anticipated. In particular, a subset of sinonasal carcinomas are HPV positive, and these include a variant that is histologically similar to adenoid cystic carcinoma (ACC). Cases were identified by retrospective and prospective analyses of head and neck carcinomas with ACC features. HPV analysis was performed using p16 immunohistochemistry and high risk HPV in-situ hybridization. HPV-positive cases were confirmed and typed using HPV type-specific quantitative PCR, and further characterized regarding their immunohistochemical profile and MYB gene status. HPV was detected in 8 carcinomas of the sinonasal tract, but it was not detected in any ACCs arising outside of the sinonasal tract. The HPV types were 33 (n=6), 35 (n=1) and indeterminate (n=1). Six patients were women and two were men, ranging in age from 40–73 years (mean 55). The carcinomas were characterized by a nested growth, a prominent basaloid component showing myoepithelial differentiation and forming microcystic spaces, and a minor epithelial component with ductal structures. Squamous differentiation, when present, was restricted to the surface epithelium. The carcinomas were not associated with the MYB gene rearrangement that characterizes a subset of ACCs. These cases draw attention to an unusual variant of HPV-related carcinoma that has a predilection for the sinonasal tract. Despite significant morphologic overlap with ACC, it is distinct in several respects including an association with surface squamous dysplasia, absence of the MYB gene rearrangement, and an association with HPV, particularly type 33. As HPV positivity confers distinct clinico

  4. Primary adenoid cystic carcinoma of the nasolacrimal duct treated with proton beam therapy.

    PubMed

    Wada, Kota; Arai, Chiaki; Suda, Toshihito; Nagaoka, Masato; Shimura, Eiji; Yanagisawa, Sawako; Edamatsu, Hideo

    2015-12-01

    Primary malignant tumors of the lacrimal passage, particularly of the nasolacrimal duct, are rare. We describe a 72-year-old woman who presented with lacrimation 5 years previously. She had pain and bloody and purulent lacrimation, and a mass was identified in the inferior meatus. Accordingly, she was diagnosed with primary adenoid cystic carcinoma of the nasolacrimal duct. She was treated with proton beam therapy and showed a favorable response. Owing to the long-term risks of recurrence and distant metastasis, adenoid cystic carcinoma requires sufficient follow-up. PMID:25998851

  5. Adenoid cystic carcinoma: A rare late presentation of the mobile tongue

    PubMed Central

    Kumar, Sanjay; Agarwal, Padmanidhi; Nimmi, V.

    2016-01-01

    Adenoid cystic carcinoma (ACC) is an infrequent malignant neoplasm of the salivary glands. We present a case of a 70-year-old male patient with a swelling over the dorsal and ventral surface of anterior two third of the tongue which was causing him difficulty in mastication since 10 months. Ultrasound and magnetic resonance imaging were done following which the surgical excision of the lesion was performed and histopathological diagnosis of ACC was achieved. It was rare to find ACC in such an old man with such a large lesion presenting so late in the rare site of the mobile tongue. ACC is a slowly growing, highly invasive cancer with a high recurrence rate and chances of metastases, so surgery is the choice of treatment with mandatory long-term follow-up. PMID:27195216

  6. Axillary lymph node metastases in adenoid cystic carcinoma of the breast. A rare finding

    PubMed Central

    SPILIOPOULOS, D.; MITSOPOULOS, G.; KAPTANIS, S.; HALKIAS, C.

    2015-01-01

    Adenoid cystic carcinoma (ACC) of the breast is a rare malignant salivary-type neoplasm that has a good prognosis and represents less than 1% of all breast cancers. It is a triple negative carcinoma that presents as a painful mass. The mean age at the time of diagnosis is 50–60 years old. The solid variant of this type of tumour with basaloid features and presence of nodal metastases is very rare and considered to have a more aggressive clinical course. We present a case with presence of axillary lymph node metastases that was successfully treated with no evidence of recurrence one year after the diagnosis and review the literature. PMID:26712257

  7. Outcomes and Prognostic Variables in Adenoid Cystic Carcinoma of the Head and Neck: A Recent Experience

    SciTech Connect

    Gomez, Daniel R. Hoppe, Bradford S.; Wolden, Suzanne L.; Zhung, Joanne E.; Patel, Snehal G.; Kraus, Dennis H.; Shah, Jatin P.; Ghossein, Ronald A.; Lee, Nancy Y.

    2008-04-01

    Purpose: To analyze the recent experience of patients with adenoid cystic carcinoma treated with radiation therapy at Memorial Sloan-Kettering Cancer Center. Methods and Materials: From 1990 to 2004, a total of 59 patients with a diagnosis of primary adenoid cystic carcinoma of the head and neck received radiation therapy at our institution. The subsite distribution was oral cavity, 28% (n = 17); paranasal sinuses, 22% (n = 13); parotid, 14% (n = 8); submandibular, 14% (n = 8); oropharynx, 10% (n = 6); sublingual, 3% (n = 2); nasopharynx, 3% (n = 2); and other, 5% (n = 3). T Stage distribution was T1, 34% (n = 20); T2, 19% (n = 11); T3, 14% (n = 8); and T4, 34% (n = 20). Twenty-nine percent of patients (n = 17) were treated with intensity-modulated radiation therapy; 25% (n =15), with three-dimensional conformal therapy, and the remainder, with conventional techniques. Ninety percent (n = 53) of patients received treatment including the base of skull. Results: Median follow-up for surviving patients was 5.9 years. Five-year and 10-year rates of local control and distant metastases-free survival were 91%/81% and 81%/49%, respectively. Five-year and 10-year rates of disease-free and overall survival were 76%/40% and 87%/65%, respectively. On univariate analysis, stage T4 (p = 0.004) and gross/clinical nerve involvement (p = 0.002) were associated with decreased progression free survival, whereas stage T4 and lymph node involvement were associated with decreased overall survival (p = 0.046 and p < 0.001, respectively). Conclusions: Radiation therapy in combination with surgery produces excellent rates of local control, although distant metastases account for a high proportion of failures. Routine treatment to the base of skull reduces the significance of histologic perineural invasion, but major nerve involvement remains an adverse prognostic factor.

  8. ER-α36, a novel isoform of ER-α66, is commonly over-expressed in apocrine and adenoid cystic carcinomas of the breast

    PubMed Central

    Vranic, Semir; Gatalica, Zoran; Deng, Hao; Frkovic-Grazio, Snjezana; Lee, Lisa M J; Gurjeva, Olga; Wang, Zhao-Yi

    2012-01-01

    Background ER-α36 is a novel 36 kDa isoform of the full-length oestrogen receptor alpha (ER-α66). ER-α36 primarily localises to the cytoplasm and the plasma membrane, and responds to membrane-initiated oestrogen and antioestrogen signalling pathways. Aim To examine the expression of ER-α36 in apocrine and adenoid cystic carcinoma of the breast, both of which are consistently ER-α66 negative and currently lack effective targeted therapeutic options. Methods 19 pure apocrine carcinomas (17 invasive and two in-situ carcinomas) and 11 adenoid cystic carcinomas of the breast were evaluated for ER-α36 expression, along with expressions of ER-α66, progesterone receptor (PR) and androgen receptor (AR) using immunohistochemical methods. Results All pure apocrine carcinomas showed a characteristic steroid receptor expression profile (ER-α66 and PR negative, AR strongly positive). ER-α36 expression was detected in 18/19 pure apocrine carcinomas (94.7%, 95% CI 75.1 to 98.7) in predominantly membranous and cytoplasmic distribution. When positive, pure apocrine carcinomas uniformly (100% of cells) expressed ER-α36. All adenoid cystic carcinomas were uniformly negative for all three classic steroid receptors, but ER-α36 was detected in 8/11 cases (72.7%, 95% CI 42.8 to 90) with the similar sub-cellular pattern of expression as in the pure apocrine carcinomas. When positive, adenoid cystic carcinomas expressed ER-α36 in the majority of cells (average 76%). Conclusion ER-α36, a novel isoform of ER-α66, is frequently over-expressed in apocrine and adenoid cystic carcinomas of the breast. These results indicate a potential for a novel targeted treatment in these cancers. PMID:21045236

  9. Prosthetic rehabilitation of a patient with adenoid cystic carcinoma with continuous orbital-maxillary defect

    PubMed Central

    Haralur, Satheesh B; Shah, Farhan K

    2013-01-01

    Extensive head and neck surgical procedures severely affect vital functions, physical appearance and lead to huge psychological trauma in the patients. Well-constructed maxillofacial prosthesis will help them lead a normal social life for the remaining precious time. This case report explains the prosthetic rehabilitation of continuous orbital-maxillary surgical defect in a patient with adenoid cystic carcinoma with restricted mouth opening. Maxillofacial prosthesis needs individual modification to a treatment plan according to the defect and existing clinical conditions. In this case, magnetically retained three-piece prosthesis was designed because of high recurrence rate of the adenoid cystic carcinoma, lack of adequate bone for implants and limited mouth opening in the patient. The prosthesis restored the phonetics, aesthetics and deglutition of the patient by re-establishing the separation of oral–nasal–orbital cavities. PMID:23605840

  10. [A clinical study on the adenoid cystic carcinoma in oral cavity].

    PubMed

    Byung, M

    1990-03-01

    Two cases of adenoid cystic carcinoma occurred on the palate are reported. They were female and aged 65 and 69 year. They showed expansile growth in association with the bony destruction of maxillary sinus wall. Histologically the case 1 had cribriform pattern and the case 2 had cribriform and tubular pattern, and exhibited perineural invasion of tumor cells in both cases. The radical surgery were conducted, and there were no lymph node metastasis and recurrence. PMID:1966821

  11. Adenoid cystic carcinoma of submandibular gland metastatic to great toes: case report and literature review.

    PubMed

    Rafael, Oana C; Paul, Doru; Chen, Sheng; Kraus, Dennis

    2016-08-01

    Adenoid cystic carcinoma (ACC) is a rare malignant tumor of the salivary glands, with higher frequency in the submandibular gland, a prolonged clinical course, and poor long-term survival. It tends to metastasize to lungs, bone, liver, brain, and rarely to skin. Comprehensive skin examination and appropriate follow-up is recommended, since cutaneous metastasis represents disease progression, requiring management and prognosis adjustment. PMID:27525094

  12. Adenoid cystic carcinoma of the base of the tongue: Late metastasis to the pancreas

    PubMed Central

    Falk, Gavin A.; El-Hayek, Kevin; Morris-Stiff, Gareth; Tuthill, Ralph J.; Winans, Charles G.

    2010-01-01

    Adenoid cystic carcinoma (ACC) is a relatively rare epithelial tumor of the salivary glands. We present a 64-year-old gentleman with ACC of the tongue who following resection and radiotherapy, presented 10 years later with a lung metastasis and underwent operative intervention and further radiotherapy. Five years later he presented with obstructive jaundice found to be metastatic ACC. We believe this to be the first report of an ACC metastasizing to the pancreas. PMID:22096672

  13. Expression of Neuropilin-2 in salivary adenoid cystic carcinoma: its implication in tumor progression and angiogenesis.

    PubMed

    Cai, Yu; Wang, Rong; Zhao, Yi-Fang; Jia, Jun; Sun, Zhi-Jun; Chen, Xin-Ming

    2010-12-15

    Neuropilin-2(Nrp2), which is a nontyrosine kinase transmembrane glycoprotein, can promote angiogenesis and is a poor prognostic factor in some human cancers. In the present study, to explore the expression and potential function of Nrp2 in salivary adenoid cystic carcinoma (SACC), immunohistochemistry was used to examine the Nrp2 expression in 50 SACCs and 20 normal salivary gland tissues nearby SACCs. The result showed that immunoreactivity for Nrp2 was detected in 47 of 50 SACCs, and its expression level had significant correlations with microvessel density, tumor size, TMN clinical stage, vascular invasion, and metastasis (P<0.05) of SACCs. In addition, inhibition of Nrp2 function by the receptor-ligand interaction-blocking antibody decreased cell migration, invasion, and angiogenic promotion without influences on the cell proliferation of Acc-3 cells. Taken together, the expression of Nrp2 protein is significantly correlated with tumor progression and angiogenesis in SACCs. These results suggest that Nrp2 may be a potential therapeutic target for SACCs. PMID:20851535

  14. Tumour response following high-dose intratumoural application of Viscum album on a patient with adenoid cystic carcinoma

    PubMed Central

    Werthmann, Paul Georg; Helling, Dieter; Heusser, Peter; Kienle, Gunver Sophia

    2014-01-01

    Adenoid cystic carcinoma (ACC) is a rare type of cancer that typically originates in the salivary glands. Surgical removal can lead to functional loss and psychological distress. Viscum album extract (VAE) is a herbal remedy with dose-dependent cytotoxic, apoptogenic and immunological effects. In some case reports, tumour regression has been observed following high-dose local applications of VAE. An active 88-year-old man with fast-growing ACC of the hard palate refused surgical removal and received high-dose intratumoural injections of VAE (alone) over a 10-month period. The tumour decreased in size, softened and loosened from its surroundings. A biopsy during the course showed inflammation. The patient remained well and without functional limitations during the therapy and follow-up period (5 months). VAE produced no reported side effects. This aged patient exemplifies a satisfying course of ACC under VAE resulting in good quality of life and partial tumour regression. PMID:25082867

  15. WIP1 stimulates migration and invasion of salivary adenoid cystic carcinoma by inducing MMP-9 and VEGF-C

    PubMed Central

    Tang, Ya-ling; Liu, Xin; Gao, Shi-yu; Feng, Hao; Jiang, Ya-ping; Wang, Sha-sha; Yang, Jing; Jiang, Jian; Ma, Xiang-rui; Tang, Ya-jie; Chen, Yu; Liang, Xin-hua

    2015-01-01

    The wild-type p53 induced phosphatase 1 (WIP1) is an oncogene overexpressed in a variety of human cancers. Here, we demonstrated that WIP1 silencing reduced MMP-9 and VEGF-C expression as well as migration and invasion of salivary adenoid cystic carcinoma (ACC) cells. Overexpression of MMP-9 or VEGF-C restored migration and invasion in WIP1 knockdown cells, indicating that MMP-9 and VEGF-C are downstream targets of WIP1 signaling. Levels of cyclin D1 and c-Myc, targets of Wnt/β-catenin pathway, were significantly decreased by WIP1 silencing. In addition, WIP1 expression was positively associated with metastasis and prognosis of ACC patients as well as with MMP-9 or VEGF-C in ACC tissues. PMID:25797250

  16. Carcinoma-Associated Fibroblasts Lead the Invasion of Salivary Gland Adenoid Cystic Carcinoma Cells by Creating an Invasive Track

    PubMed Central

    Li, Jiao; Jia, Zhuqiang; Kong, Jing; Zhang, Fuyin; Fang, Shimeng; Li, Xiaojie; Li, Wuwei; Yang, Xuesong; Luo, Yong; Lin, Bingcheng; Liu, Tingjiao

    2016-01-01

    Carcinoma-associated fibroblasts (CAFs) are critical in determining tumor invasion and metastasis. However the role of CAFs in the invasion of salivary gland adenoid cystic carcinoma (ACC) is poorly understood. In this study, we isolated primary CAFs from two ACC patients. ACC-derived CAFs expressed typical CAF biomarkers and showed increased migration and invasion activity. Conditioned medium collected from CAFs significantly promoted ACC cell migration and invasion. Co-culture of CAFs with ACC cells in a microfluidic device further revealed that CAFs localized at the invasion front and ACC cells followed the track behind the CAFs. Interfering of both matrix metalloproteinase and CXCL12/CXCR4 pathway inhibited ACC invasion promoted by CAFs. Overall, our study demonstrates that ACC-derived CAFs exhibit the most important defining feature of CAFs by promoting cancer invasion. In addition to secretion of soluble factors, CAFs also lead ACC invasion by creating an invasive track in the ECM. PMID:26954362

  17. Video-assisted thoracoscopic surgery tracheal resection and carinal reconstruction for tracheal adenoid cystic carcinoma.

    PubMed

    He, Jianxing; Wang, Wei; Li, Jingpei; Yin, Weiqiang; Xu, Xin; Peng, Guilin; Chen, Youping; He, Ping

    2016-01-01

    We report a case of video-assisted thoracoscopic surgery (VATS) tracheal resection and carinal reconstruction in a patient with tracheal tumor. The patient presented with adenoid cystic carcinoma (ACC) of the distal trachea, extending along the right main bronchus with carinal invasion. The reconstruction procedure was assisted with cross-field ventilation. Postoperative clinical course of this case was good. The forced expiratory volume in the first second (FEV1) improved from 0.461 L (17% pred.) to 2.31 L (87% pred.) 1 month after the operation. VATS tracheal resection and carinal reconstruction is a feasible option for patients with tracheal tumor with carina involvement. PMID:26904230

  18. Video-assisted thoracoscopic surgery tracheal resection and carinal reconstruction for tracheal adenoid cystic carcinoma

    PubMed Central

    Wang, Wei; Li, Jingpei; Yin, Weiqiang; Xu, Xin; Peng, Guilin; Chen, Youping; He, Ping

    2016-01-01

    We report a case of video-assisted thoracoscopic surgery (VATS) tracheal resection and carinal reconstruction in a patient with tracheal tumor. The patient presented with adenoid cystic carcinoma (ACC) of the distal trachea, extending along the right main bronchus with carinal invasion. The reconstruction procedure was assisted with cross-field ventilation. Postoperative clinical course of this case was good. The forced expiratory volume in the first second (FEV1) improved from 0.461 L (17% pred.) to 2.31 L (87% pred.) 1 month after the operation. VATS tracheal resection and carinal reconstruction is a feasible option for patients with tracheal tumor with carina involvement. PMID:26904230

  19. Identification of differentially expressed genes in salivary adenoid cystic carcinoma cells associated with metastasis

    PubMed Central

    Liu, Bing-Yao; Zhang, Xiang; Zhao, Xiao-Ge; Cao, Gang; Dong, Zhen

    2016-01-01

    Introduction Salivary adenoid cystic carcinoma (SACC) is a frequent type of salivary gland cancer which is characterized by slow growth but high incidence of distant metastasis. We aimed to identify therapeutic targets which are associated with metastasis of SACC. Material and methods Total RNA was isolated from a low metastatic SACC cell line (ACC-2) and a highly metastatic SACC cell line (ACC-M), which was screened from ACC-2 by combination of in vivo selection and cloning in vitro. Then the total RNA was subjected to microarray analysis. Differentially expressed genes (DEGs) were screened from ACC-M compared with ACC-2, followed by Gene Ontology function and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis. Function annotation for DEGs also was performed. A protein-protein interaction network (PPI) was constructed for DEGs. Results A total of 1128 DEGs were identified from ACC-M cells compared with ACC-2 cells. Both up- and down-regulated DEGs were enriched in different functions in biological process (BP), cellular component (CC) and molecular function (MF). Additionally, down-regulated DEGs were mainly enriched in “Apoptosis” and “Cytokine-cytokine receptor interaction” pathways which involved IFN-α1, NTRK1 and TGF-β1. In the PPI network, PIK3CA, PTPN11 and PIK3R1 had a number of nodes greater than 10. Conclusions Transforming growth factor β1 might play a pivotal role during lung metastasis of SACC and be selected as a candidate target for treatment of metastatic SACC. IFNA1, NTRK1 and PIK3CA were also associated with tumor metastasis. PMID:27478471

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

    PubMed

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

    1981-10-01

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

  1. Adjuvant Radiotherapy with Three-Dimensional Conformal Radiotherapy of Lacrimal Gland Adenoid Cystic Carcinoma

    PubMed Central

    Roshan, Vikas; Mallick, Supriya; Chander, Subhash; Sen, Seema; Chawla, Bhavna

    2015-01-01

    Background & Aim Adenoid cystic carcinoma (ACC) of lacrimal gland is a rare tumour with aggressive behaviour. There is sparse data to address optimum therapy for such tumours. So, the present study was aimed at evaluating the role of adjuvant three dimensional conformal radiotherapy (3D-CRT) in cases of incomplete (R1) resection along with review of literature pertaining to management of lacrimal adenoid cystic carcinoma Materials and Methods We retrospectively reviewed the demographic and treatment data of 10 biopsy proven ACC of lacrimal gland patients, treated from December 2006 to June 2013. They were treated with radiotherapy following surgical resection. Eight patients underwent gross total excision of the tumour mass (enbloc excision) followed by conformal radiotherapy to a dose of 60 Gray/30fractions/ 6 weeks. Two patients with advanced disease were treated with palliative radiotherapy after biopsy. Results The median age was 32 years. There were equal numbers of male and female patients. The median duration of symptoms was 7 months. At a median follow up of 21 months, eight patients had no evidence of disease and had complete tumour response, two patients worsened, and one of the two had systemic failure with bone metastasis. Conclusion Despite a small sample size and short follow, enbloc surgical excision with adjuvant radiotherapy is well tolerated and shows good control in ACC of lacrimal gland. PMID:26557600

  2. FZD2 inhibits the cell growth and migration of salivary adenoid cystic carcinomas.

    PubMed

    Ding, Lin-Can; Huang, Xiao-Yu; Zheng, Fei-Fei; Xie, Jian; She, Lin; Feng, Yan; Su, Bo-Hua; Zheng, Da-Li; Lu, You-Guang

    2016-02-01

    Several studies have reported that FZD2 regulates tumor biology in a complex manner. The aim of the present study was to identify the role of FZD2 in the cell growth and metastasis of salivary adenoid cystic carcinomas (SACCs). The expression of FZD2 in ACC-83 and ACC-LM cells were measured with real-time PCR. Immunohistochemical staining was used to detect the expression of FZD2 in clinical SACC samples with or without metastasis. Cell proliferation and Transwell assays were performed to explore the effects of FZD2 on cell growth and migration following the silencing of FZD2 with small interference RNAs and the overexpression of FZD2 with plasmid. Our data showed that FZD2 was downregulated in ACC-LM cells, which are an adenoid cystic carcinoma cell line with high metastatic potential, compared to ACC-83 cells, which have low metastatic potential. Additionally, the expression of FZD2 was lower in SACC tissues with metastasis compared to SACC tissues without metastasis (P<0.05). Cell proliferation and migration of ACC-83 cells were increased after the knockdown of FZD2 and decreased following overexpression of FZD2. Knockdown of FZD2 downregulated the expression of PAI-1. Our results suggest that FZD2 may be a tumor suppressor gene in SACCs that inhibits cell growth and migration. PMID:25695658

  3. Expression of LC3, LAMP2, KEAP1 and NRF2 in Salivary Adenoid Cystic Carcinoma.

    PubMed

    Huang, Cong-Fa; Deng, Wei-Wei; Zhang, Lu; Zhang, Wen-Feng; Sun, Zhi-Jun

    2016-01-01

    Salivary Adenoid Cystic Carcinoma (SACC) is a tumor characterized by inevitable local progression and terminal hematogenous metastasis. This study aimed to investigate the expression of LC3, LAMP2, KEAP1 and NRF2 in SACC. Human salivary gland tissue microarray which contains 74 SACC, 12 pleomorphic adenoma and 18 normal salivary gland specimens. High expression of LC3, LAMP2, KEAP1 and NRF2 were found in SACC patients, and LC3, LAMP2, KEAP1 and NRF2 expression were significantly higher in SACC than as compared with pleomorphic adenoma and (or) normal salivary gland. The expression of NRF2 was correlated with pathological type of human SACC (P < 0.05). Moreover, the high-expression of KEAP1 had significant correlations with LC3 (P < 0.001, R = 0.3195), and LAMP2 (P < 0.001, R = 0.3346) and NRF2 (P < 0.05, R = 0.2246) by using the Pearson correlation coefficient test. Our findings demonstrated that up-regulation of LC3, LAMP2, KEAP1 and NRF2 were associated with carcinogenesis and progression of SACC patients, suggesting that they may be useful molecular targets in salivary adenoid cystic carcinoma. PMID:26350055

  4. Long-term remission of adenoid cystic tongue carcinoma with low dose naltrexone and vitamin D3--a case report.

    PubMed

    Khan, Akbar

    2014-09-01

    Naltrexone (ReVia®) is a long-acting oral pure opiate antagonist which is approved for the treatment of alcohol addiction as a 50mg per day tablet. The mechanism of action is complete opiate blockade, which removes the pleasure sensation derived from drinking alcohol (created by endorphins). Low Dose Naltrexone ("LDN") in the range of 3-4.5 mg per day has been shown to have the opposite effect - brief opiate receptor blockade with resulting upregulation of endogenous opiate production. Through the work of Bihari and Zagon, it has been determined that the level of the endogenous opiate methionine-enkephalin is increased by LDN. Met-enkephalin is involved in regulating cell proliferation and can inhibit cancer cell growth in multiple cell lines. Increased met-enkepahlin levels created by LDN thus have the potential to inhibit cancer growth in humans. Phase II human trials of met-enkephalin, case reports published by Berkson and Rubin, and the clinical experience of Bihari confirmed the potential role of LDN in treating pancreatic and other cancers. However, large scale trials are lacking and are unlikely to be funded given the current non-proprietary status of naltrexone. A case report is presented of successful treatment of adenoid cystic carcinoma as further evidence of LDN's potential as a unique non-toxic cancer therapy. PMID:25284545

  5. Nomograms for predicting survival and recurrence in patients with adenoid cystic carcinoma. An international collaborative study

    PubMed Central

    Ganly, Ian; Amit, Moran; Kou, Lei; Palmer, Frank L.; Migliacci, Jocelyn; Katabi, Nora; Yu, Changhong; Kattan, Michael W.; Binenbaum, Yoav; Sharma, Kanika; Naomi, Ramer; Abib, Agbetoba; Miles, Brett; Yang, Xinjie; Lei, Delin; Bjoerndal, Kristine; Godballe, Christian; Mücke, Thomas; Wolff, Klaus-Dietrich; Fliss, Dan; Eckardt, André M.; Chiara, Copelli; Sesenna, Enrico; Ali, Safina; Czerwonka, Lukas; Goldstein, David P.; Gil, Ziv; Patel, Snehal G.

    2016-01-01

    Background Due to the rarity of adenoid cystic carcinoma (ACC), information on outcome is based upon small retrospective case series. The aim of our study was to create a large multiinstitutional international dataset of patients with ACC in order to design predictive nomograms for outcome. Methods ACC patients managed at 10 international centers were identified. Patient, tumor, and treatment characteristics were recorded and an international collaborative dataset created. Multivariable competing risk models were then built to predict the 10 year recurrence free probability (RFP), distant recurrence free probability (DRFP), overall survival (OS) and cancer specific mortality (CSM). All predictors of interest were added in the starting full models before selection, including age, gender, tumor site, clinical T stage, perineural invasion, margin status, pathologic N-status, and M-status. Stepdown method was used in model selection to choose predictive variables. An external dataset of 99 patients from 2 other institutions was used to validate the nomograms. Findings Of 438 ACC patients, 27.2% (119/438) died from ACC and 38.8% (170/438) died of other causes. Median follow-up was 56 months (range 1–306). The nomogram for OS had 7 variables (age, gender, clinical T stage, tumor site, margin status, pathologic N-status and M-status) with a concordance index (CI) of 0.71. The nomogram for CSM had the same variables, except margin status, with a concordance index (CI) of 0.70. The nomogram for RFP had 7 variables (age, gender, clinical T stage, tumor site, margin status, pathologic N status and perineural invasion) (CI 0.66). The nomogram for DRFP had 6 variables (gender, clinical T stage, tumor site, pathologic N-status, perineural invasion and margin status) (CI 0.64). Concordance index for the external validation set were 0.76, 0.72, 0.67 and 0.70 respectively. Interpretation Using an international collaborative database we have created the first nomograms which

  6. Identification of microRNA profiles in salivary adenoid cystic carcinoma cells during metastatic progression.

    PubMed

    Chen, Wei; Zhao, Xiaoge; Dong, Zhen; Cao, Gang; Zhang, Senlin

    2014-06-01

    Salivary adenoid cystic carcinoma (SACC) is a common type of salivary gland cancer. The poor long-term prognosis of patients with SACC is primarily due to local recurrence, distant metastasis and perineural invasion. MicroRNAs (miRNAs) have been identified as important post-transcriptional regulators, which are involved in various biological processes. The aim of the present study was to identify the miRNA expression profiles that are involved in the metastatic progression of SACC. Therefore, microarray technology was employed to identify miRNA expression profiles in an SACC cell line, ACC-2, and a highly metastatic SACC cell line, ACC-M, which was screened from ACC-2 by a combination of in vivo selection and cloning in vitro. Differences in miRNA expression were assessed by quantitative polymerase chain reaction (qPCR) assay. In addition, the potential target genes that are regulated by selected miRNAs were analyzed by various target prediction tools. The microarray data revealed that the levels of 38 miRNAs significantly differed between the ACC-M cells and the control ACC-2 cells. Six miRNAs (miR-4487, -4430, -486-3p, -5191, -3131 and -211-3p) were selected to validate the microarray data via qPCR. The expression of two miRNAs (miR-4487 and -4430) was significantly upregulated in the ACC-M cells, while the expression of two other miRNAs (miR-5191 and -3131) was significantly downregulated in the ACC-M cells. The potential target genes that were identified to be controlled by the six selected miRNAs were divided into four groups according to function, as follows: Apoptosis and proliferation (46 genes), cell cycle (30 genes), DNA damage and repair (24 genes) and signaling pathway (30 genes). The identification of microRNA expression profiles in highly metastatic SACC cells may provide an improved understanding of the mechanisms involved in metastatic progression, which would aid in the development of novel strategies for the treatment of SACC. PMID:24932284

  7. C3 Vertebral Metastases From Tongue Adenoid Cystic Carcinoma: A Rare Case Report.

    PubMed

    Feng, Helin; Wang, Jin; Guo, Peng; Xu, Jianfa; Feng, Jiangang

    2015-07-01

    We report a rare case involving a patient with C3 vertebral body metastasis secondary to adenoid cystic carcinoma of the tongue.Five years after local resection of the primary tumor, magnetic resonance imaging showed a metastasis located in the left posterior border of the C3 vertebral body. Additionally, multiple pulmonary metastases were identified by computed tomography. Based on these findings, the patient underwent C2-3, C3-4 discectomy; C3 corpectomy; and titanium mesh fusion with a Zephir plate. The diagnosis was confirmed by the pathology findings. During 6 months of follow-up, the patient showed improvement and return of function of the cervical vertebrae, with no serious complications.Because of the scarcity of cases of vertebral metastases from tumors of the tongue in the literature, we have reported this case to add to the available evidence regarding this rarely encountered condition. PMID:26166118

  8. Adenoid cystic carcinoma of the parotid gland associated with salivary calculi: An unusual presentation.

    PubMed

    Shenoy, Vijendra S; Kamath, M Panduranga; Sreedharan, Suja; Suhas, S S

    2015-01-01

    Adenoid cystic carcinomas (ACC) of the head and neck are relatively rare tumors, consisting of approximately 10-15% of all salivary gland neoplasms. ACC, a slow-growing aggressive malignant tumor of salivary gland commonly seen in the submandibular, sublingual, minor salivary glands is seldom found in the parotid. Calculus, the common cause of salivary gland dysfunction is usually identified in submandibular salivary gland because of its duct anatomy and physiochemical characteristic serous secretion. We report an unusual case of co-existent presentation of ACC with salivary calculi in the parotid gland which is never been reported in the literature. Co-existence of ductal calculi and ACC is rare. Presence of parotid calculus could be due to long standing ductal obstruction by the slow-growing ACC of the parotid or other possibility is that the malignancy could have developed because of chronic irritation by parotid calculi. Confirmatory studies are required to understand its mutual pathological association. PMID:26458630

  9. A subset of prostatic basal cell carcinomas harbor the MYB rearrangement of adenoid cystic carcinoma.

    PubMed

    Bishop, Justin A; Yonescu, Raluca; Epstein, Jonathan I; Westra, William H

    2015-08-01

    Adenoid cystic carcinoma (ACC) is a basaloid tumor consisting of myoepithelial and ductal cells typically arranged in a cribriform pattern. Adenoid cystic carcinoma is generally regarded as a form of salivary gland carcinoma, but it can arise from sites unassociated with salivary tissue. A rare form of prostate carcinoma exhibits ACC-like features; it is no longer regarded as a true ACC but rather as prostatic basal cell carcinoma (PBCC) and within the spectrum of basaloid prostatic proliferations. True ACCs often harbor MYB translocations resulting in the MYB-NFIB fusion protein. MYB analysis could clarify the true nature of prostatic carcinomas that exhibit ACC features and thus help refine the classification of prostatic basaloid proliferations. Twelve PBCCs were identified from the pathology consultation files of Johns Hopkins Hospital. The histopathologic features were reviewed, and break-apart fluorescence in situ hybridization for MYB was performed. All 12 cases exhibited prominent basaloid histology. Four were purely solid, 7 exhibited a cribriform pattern reminiscent of salivary ACC, and 1 had a mixed pattern. The MYB rearrangement was detected in 2 (29%) of 7 ACC-like carcinomas but in none (0%) of the 5 PBCCs with a prominent solid pattern. True ACCs can arise in the prostate as is evidenced by the presence of the characteristic MYB rearrangement. When dealing with malignant basaloid proliferations in the prostate, recommendations to consolidate ACCs with other tumor types may need to be reassessed, particularly in light of the rapidly advancing field of biologic therapy where the identification of tumor-specific genetic alterations presents novel therapeutic targets. PMID:26089205

  10. Treatment of Locally Advanced Adenoid Cystic Carcinoma of the Trachea With Neutron Radiotherapy

    SciTech Connect

    Bittner, Nathan; Koh, W.-J.; Laramore, George E.; Patel, Shilpen; Mulligan, Michael S.; Douglas, James G.

    2008-10-01

    Purpose: To examine the efficacy of fast neutron radiotherapy in the treatment of locally advanced adenoid cystic carcinoma (ACC) of the trachea and to compare outcomes with and without high-dose-rate (HDR) endobronchial brachytherapy boost. Methods and Materials: Between 1989 and 2005, a total of 20 patients with ACC of the trachea were treated with fast neutron radiotherapy at University of Washington. Of these 20 patients, 19 were treated with curative intent. Neutron doses ranged from 10.7 to 19.95 Gy (median, 19.2 Gy). Six of these patients received an endobronchial brachytherapy boost using an HDR {sup 192}Ir source (3.5 Gy x 2 fractions). Median duration of follow-up was 46 months (range, 10-121 months). Results: The 5-year actuarial overall survival rate and median overall survival for the entire cohort were 89.4%, and 97 months, respectively. Overall survival was not statistically different among those patients receiving an endobronchial boost compared with those receiving neutron radiotherapy alone (100% vs. 68%, p = 0.36). The 5-year actuarial locoregional control rate for the entire cohort was 54.1%. The locoregional control rate was not statistically different among patients who received an endobronchial boost compared with those who received neutron radiotherapy alone (40% vs. 58%, p 0.94). There were no cases of Grade {>=}3 acute toxicity. There were 2 cases of Grade 3/4 chronic toxicity. Conclusions: Fast neutron radiotherapy is an effective treatment for locally advanced adenoid cystic carcinoma of the trachea, with acceptable treatment-related toxicity.

  11. Mutation profiling of adenoid cystic carcinomas from multiple anatomical sites identifies mutations in the RAS pathway, but no KIT mutations

    PubMed Central

    Wetterskog, Daniel; Wilkerson, Paul M; Rodrigues, Daniel N; Lambros, Maryou B; Fritchie, Karen; Andersson, Mattias K; Natrajan, Rachael; Gauthier, Arnaud; Di Palma, Silvana; Shousha, Sami; Gatalica, Zoran; Töpfer, Chantal; Vukovic, Vesna; A’Hern, Roger; Weigelt, Britta; Vincent-Salomon, Anne; Stenman, Göran; Rubin, Brian P; Reis-Filho, Jorge S

    2016-01-01

    Aims The majority of adenoid cystic carcinomas (AdCCs), regardless of anatomical site, harbour the MYB–NFIB fusion gene. The aim of this study was to characterize the repertoire of somatic genetic events affecting known cancer genes in AdCCs. Methods and results DNA was extracted from 13 microdissected breast AdCCs, and subjected to a mutation survey using the Sequenom OncoCarta Panel v1.0. Genes found to be mutated in any of the breast AdCCs and genes related to the same canonical molecular pathways, as well as KIT, a proto-oncogene whose protein product is expressed in AdCCs, were sequenced in an additional 68 AdCCs from various anatomical sites by Sanger sequencing. Using the Sequenom MassARRAY platform and Sanger sequencing, mutations in BRAF and HRAS were identified in three and one cases, respectively (breast, and head and neck). KIT, which has previously been reported to be mutated in AdCCs, was also investigated, but no mutations were identified. Conclusions Our results demonstrate that mutations in genes pertaining to the canonical RAS pathway are found in a minority of AdCCs, and that activating KIT mutations are either absent or remarkably rare in these cancers, and unlikely to constitute a driver and therapeutic target for patients with AdCC. PMID:23398044

  12. In Vivo Visualization of Prostate-Specific Membrane Antigen in Adenoid Cystic Carcinoma of the Salivary Gland.

    PubMed

    Lütje, Susanne; Sauerwein, Wolfgang; Lauenstein, Thomas; Bockisch, Andreas; Poeppel, Thorsten D

    2016-06-01

    As the prostate-specific membrane antigen (PSMA) is overexpressed in the neovasculature of several malignancies, it might serve as a target in oncology. Ga-PSMA PET/CT and PET/MRI were performed in a female who developed pulmonary metastases from an adenoid cystic carcinoma of the right sublingual salivary gland after incomplete resection of the primary tumor and radiotherapy. Uptake of Ga-PSMA in tumors was observed, indicating PSMA expression. Moreover, a new cerebral metastasis was detected. Potentially, Ga-PSMA PET might be used for noninvasive assessment of adenoid cystic carcinoma to evaluate whether patients apply for PSMA-based radiotherapy when no further treatment options are available. PMID:27055136

  13. 18F-FDG PET/CT Imaging of Bilateral Renal Metastasis of Breast Adenoid Cystic Carcinoma.

    PubMed

    Hassoun, Hani; Alabed, Yazan Z; Karls, Shawn; Probst, Stephan; Laufer, Jerome

    2016-02-01

    We report the case of a 65-year-old woman with a history of adenoid cystic carcinoma (ACC) of the breast. Fifteen years after mastectomy, the patient underwent a right upper lobectomy for a lung mass, and biopsy indicated ACC metastasis. Ten years after lobectomy, an F-FDG PET/CT was performed for restaging to rule out further metastases. We observed intense FDG uptake in enlarged polylobulated kidneys, which was biopsy proven as ACC metastasis. PMID:26562575

  14. Akt Inhibitor MK2206 in Treating Patients With Progressive, Recurrent, or Metastatic Adenoid Cyst Carcinoma

    ClinicalTrials.gov

    2015-06-04

    Recurrent Oral Cavity Adenoid Cystic Carcinoma; Recurrent Salivary Gland Carcinoma; Salivary Gland Adenoid Cystic Carcinoma; Stage IVA Major Salivary Gland Carcinoma; Stage IVA Oral Cavity Adenoid Cystic Carcinoma; Stage IVB Major Salivary Gland Carcinoma; Stage IVB Oral Cavity Adenoid Cystic Carcinoma; Stage IVC Major Salivary Gland Carcinoma; Stage IVC Oral Cavity Adenoid Cystic Carcinoma

  15. Immune Profiling of Adenoid Cystic Carcinoma: PD-L2 Expression and Associations with Tumor-Infiltrating Lymphocytes.

    PubMed

    Sridharan, Vishwajith; Gjini, Evisa; Liao, Xiaoyun; Chau, Nicole G; Haddad, Robert I; Severgnini, Mariano; Hammerman, Peter; El-Naggar, Adel; Freeman, Gordon J; Hodi, F Stephen; Rodig, Scott J; Dranoff, Glenn; Schoenfeld, Jonathan D

    2016-08-01

    Adenoid cystic carcinoma (ACC) is among the most lethal salivary gland tumors, with no treatments for metastatic disease that prolong survival. We examined tissue from 28 primary and metastatic ACC deposits obtained from 21 patients for infiltrating immune cells and PD-L1/PD-L2 expression and determined mRNA profiles of over 1,400 oncogenic and immune-related genes. We also assessed the effect of chemoradiation on immune mediators in a patient who had serial biopsies available. Most tumors expressed PD-L2 but had few infiltrating immune cells. Lack of immune-cell infiltrate was associated with expression of genes in the β-catenin/Wnt and PI3K pathways. Additionally, certain transcripts linked to growth and invasion were differentially expressed among primary and metastatic deposits. Chemoradiation appeared to increase CD8(+) effector T cells, decrease regulatory T cells, and promote a systemic humoral response. These data suggest a potential role for PD-L2 inhibition and immune modulation as treatment for patients with ACC. Cancer Immunol Res; 4(8); 679-87. ©2016 AACR. PMID:27312343

  16. Effects of 5-aza-2'deoxycytidine on RECK gene expression and tumor invasion in salivary adenoid cystic carcinoma.

    PubMed

    Zhou, X Q; Huang, S Y; Zhang, D S; Zhang, S Z; Li, W G; Chen, Z W; Wu, H W

    2015-03-01

    Reversion-inducing cysteine-rich protein with kazal motifs (RECK), a novel tumor suppressor gene that negatively regulates matrix metalloproteinases (MMPs), is expressed in various normal human tissues but downregulated in several types of human tumors. The molecular mechanism for this downregulation and its biological significance in salivary adenoid cystic carcinoma (SACC) are unclear. In the present study, we investigated the effects of a DNA methyltransferase (DNMT) inhibitor, 5-aza-2'deoxycytidine (5-aza-dC), on the methylation status of the RECK gene and tumor invasion in SACC cell lines. Methylation-specific PCR (MSP), Western blot analysis, and quantitative real-time PCR were used to investigate the methylation status of the RECK gene and expression of RECK mRNA and protein in SACC cell lines. The invasive ability of SACC cells was examined by the Transwell migration assay. Promoter methylation was only found in the ACC-M cell line. Treatment of ACC-M cells with 5-aza-dC partially reversed the hypermethylation status of the RECK gene and significantly enhanced the expression of mRNA and protein, and 5-aza-dC significantly suppressed ACC-M cell invasive ability. Our findings showed that 5-aza-dC inhibited cancer cell invasion through the reversal of RECK gene hypermethylation, which might be a promising chemotherapy approach in SACC treatment. PMID:25517920

  17. High frequency of loss of PTEN expression in human solid salivary adenoid cystic carcinoma and its implication for targeted therapy.

    PubMed

    Liu, Han; Du, Li; Wang, Ru; Wei, Chao; Liu, Bo; Zhu, Lei; Liu, Pixu; Liu, Qiang; Li, Jiang; Lu, Shi-Long; Xiao, Jing

    2015-05-10

    Salivary gland tumor (SGT) is one of the least studied cancers due to its rarity and heterogeneous histological types. Here, we reported that loss of PTEN expression was most frequently found in the poorly differentiated, high grade solid adenoid cystic carcinomas. Loss of PTEN expression correlated with activation of mTOR by increased phosphorylated S6 ribosome protein. We further functionally studied the role of PTEN in a pair of human SACC cell lines, SACC-83 and SACC-LM. Reduced PTEN level was correlated with the metastasis potential. When we knocked down PTEN in the SACC-83 cell line, we observed increased proliferation and enhanced migration/invasion in vitro, and increased tumor size in vivo. We further tested the therapeutical effect by applying a PI3K/mTOR inhibitor NVP-BEZ235 to both SACC cell lines. Decreased cell proliferation, increased apoptosis, as well as reduced cell migration/invasion were observed in both cell lines upon the NVP-BEZ235 treatment. Moreover, the NVP-BEZ235 treatment in a SGT xenograft mouse model significantly reduced primary tumor size and lung metastasis. Taken together, our results demonstrated that PTEN is a potent tumor suppressor in human SGTs, and targeting PI3K/mTOR pathway may be effective in the targeted therapy for human SGT patients with loss of PTEN expression. PMID:25909167

  18. Cervical Lymph Node Metastasis in Adenoid Cystic Carcinoma of the Larynx: A Collective International Review.

    PubMed

    Coca-Pelaz, Andrés; Barnes, Leon; Rinaldo, Alessandra; Cardesa, Antonio; Shah, Jatin P; Rodrigo, Juan P; Suárez, Carlos; Eloy, Jean Anderson; Bishop, Justin A; Devaney, Kenneth O; Thompson, Lester D R; Wenig, Bruce M; Strojan, Primož; Hamoir, Marc; Bradley, Patrick J; Gnepp, Douglas R; Silver, Carl E; Slootweg, Pieter J; Triantafyllou, Asterios; Vander Poorten, Vincent; Williams, Michelle D; Skálová, Alena; Hellquist, Henrik; Teymoortash, Afshin; Medina, Jesus E; Robbins, K Thomas; Pitman, Karen T; Kowalski, Luiz P; de Bree, Remco; Mendenhall, William M; Takes, Robert P; Ferlito, Alfio

    2016-04-01

    Adenoid cystic carcinoma (AdCC) of the head and neck is a well-recognized pathologic entity that rarely occurs in the larynx. Although the 5-year locoregional control rates are high, distant metastasis has a tendency to appear more than 5 years post treatment. Because AdCC of the larynx is uncommon, it is difficult to standardize a treatment protocol. One of the controversial points is the decision whether or not to perform an elective neck dissection on these patients. Because there is contradictory information about this issue, we have critically reviewed the literature from 1912 to 2015 on all reported cases of AdCC of the larynx in order to clarify this issue. During the most recent period of our review (1991-2015) with a more exact diagnosis of the tumor histology, 142 cases were observed of AdCC of the larynx, of which 91 patients had data pertaining to lymph node status. Eleven of the 91 patients (12.1%) had nodal metastasis and, based on this low proportion of patients, routine elective neck dissection is therefore not recommended. PMID:27084720

  19. SOD2 deregulation enhances migration, invasion and has poor prognosis in salivary adenoid cystic carcinoma

    PubMed Central

    Chang, Boyang; Yang, Hang; Jiao, Yuan; Wang, Kefeng; Liu, Zhonghua; Wu, Peihong; Li, Su; Wang, Anxun

    2016-01-01

    This study aimed to investigate the role of SOD2 in the progression and metastasis of salivary adenoid cystic carcinoma (SACC). We analyzed the expression of SOD2 in 50 SACC patients. Then, the effects and mechanism of SOD2 on cell metastasis in a pair of different metastatic potential cell lines was investigated. SOD2 was deregulated in patients with SACC. Up-regulation of SOD2 was associated with distant metastasis and reduced overall survival and disease free - survival. Compared to SACC-83 cells (lower metastasis ability), SACC-LM cells (higher metastasis ability) had higher SOD2 activity and intracellular H2O2 concentrations, and protein levels of pERK1/2 and Slug, but had similar catalase protein level and activity. In SACC-LM, reducing the expression of SOD2 by SiRNA inhibited the metastasis ability and reduced the SOD2 activities, intracellular H2O2 concentrations, and protein levels of pERK1/2 and Slug. These effects were revised in SACC-83 after SOD2 overexpression. Moreover, in SACC-83, treated with H2O2, the metastasis was enhanced accompanied by increased protein levels of pERK1/2 and Slug. We confirmed that SOD2 play an important role in the development and prognosis of SACC and SOD2-dependent production of H2O2 contributes to metastasis of SACC through the ERK-Slug signaling pathway. PMID:27181103

  20. Adenoid cystic carcinoma of the larynx presenting with unusual subglottic mass: Case report.

    PubMed

    Kashiwagi, Takashi; Kanaya, Hiroaki; Konno, Wataru; Goto, Kazutaka; Hirabayashi, Hideki; Haruna, Shin-Ichi

    2016-10-01

    A 33-year-old woman presented with an unusual subglottic bulging mass accompanied by prolonged cough and wheeze. Laryngeal endoscopy revealed a bilateral, symmetrical mass immediately below the vocal cords with marked airway obstruction. Chronic subglottic laryngitis with inflammation or another condition such as amyloidosis was initially suspected. Cervicothoracic computed tomography revealed an obvious reduction of laryngeal caliber caused by an engulfing mass extending from just under the vocal cords to the cricoid ring, which was associated with thyroid, arytenoid, and cricoid cartilage destruction. Histopathological diagnosis of a biopsy specimen collected via a tracheotomy revealed that the lesion was a cT4aN0M0 adenoid cystic carcinoma (ACC) originating from the laryngeal minor salivary glands. The patient was treated by total laryngectomy with elective bilateral neck dissection under general anesthesia. Gross inspection of resected tissue confirmed yellowish-white, solid tumor mainly circumferentially encompassing the lumina of the cricoid ring. The histopathological findings confirmed typical ACC accompanied by a predominant cribriform appearance with no evidence of lymph node metastasis. The patient remains well and free of recurrence or metastasis. We herein describe laryngeal ACC and discuss radiological images and the surgical pathology. PMID:26803452

  1. Comparison of immunohistochemical markers between adenoid cystic carcinoma and polymorphous low-grade adenocarcinoma.

    PubMed

    Saghravanian, Nasrollah; Mohtasham, Nooshin; Jafarzadeh, Hamid

    2009-12-01

    Adenoid cystic carcinoma (AdCC) and polymorphous low-grade adenocarcinoma (PLGA) have several common histological and clinicopathological features that may create diagnostic difficulties. In this study, 10 AdCCs, 8 PLGAs, and 5 normal minor salivary glands as a control group were selected. Sections prepared from each tumor were stained using the streptavidin-biotin system for seven marker antigens: carcinoembryonic antigen (CEA), epithelial membrane antigen (EMA), muscle-specific actin (MSA), vimentin, S100, p53, and Ki-67. Data analysis showed high expression of CEA, MSA and Ki-67 in AdCCs compared with PLGAs, although CEA expression was limited to luminal cells. Ki-67 was expressed in both luminal and non-luminal cells and MSA only in non-luminal cells. Vimentin and S100 showed stronger expression in PLGAs, the expression of vimentin was more noticeable, being focal and widespread. The immunoreactivities of EMA and P53 were not helpful for distinguishing between the two tumors, although the EMA expression pattern in AdCCs was limited to luminal cells, whereas it was present in both luminal and non-luminal cells in PLGAs. Thus, immunohistochemistry can be helpful for differential diagnosis of AdCC and PLGA, particularly that for CEA, vimentin, and Ki-67. PMID:20032601

  2. A case of adenoid cystic carcinoma associated with IgG4-related disease

    PubMed Central

    Shimo, Tsuyoshi; Yao, Mayumi; Takebe, Yuichiro; Ono, Yuko; Obata, Kyoichi; Kurio, Naito; Ibaragi, Soichiro; Yoshioka, Norie; Kishimoto, Koji; Yanagi, Yoshinobu; Nagatsuka, Hitoshi; Sasaki, Akira

    2015-01-01

    Introduction Immunoglobulin G4-related disease (IgG4-RD) is an inflammatory condition associated with elevated serum IgG4 levels and tissue infiltration by IgG4-expressing plasma cells. We present a case of adenoid cystic carcinoma (ACC) of the submandibular gland with possible involvement of IgG4-RD. Presentation of case The patient was a 59-year-old man presenting with a swollen right submandibular gland. Laboratory tests revealed IgG4 levels of 176 mg/dl (reference range: 4.8–105). An initial open biopsy for histological diagnosis showed chronic sialadenitis. The region was monitored on an outpatient basis, and finally the right submandibular was totally resected because malignant tumor could not be excluded. Histological examination of the submandibular gland showed an ACC with lymphocytic infiltration containing many IgG4-positive plasma cells in the tumor stroma. Discussion We have described a case that indicated a possible involvement of ACC with IgG4-RD. This allows us to speculate that longstanding IgG4-RD may progress to malignancy or infiltration of IgG4-positive plasma cells through the signals of tumor stimuli. Further investigations are required to determine the potential pathogenic mechanism underlying this unique tumor. Conclusion This case underscores that caution is needed in the diagnosis of masses with high serum IgG4 levels, as the differential diagnosis includes malignancy. PMID:25781921

  3. Thioredoxin 1 mediates TGF-β-induced epithelial-mesenchymal transition in salivary adenoid cystic carcinoma.

    PubMed

    Jiang, Yang; Feng, Xin; Zheng, Lei; Li, Sheng-Lin; Ge, Xi-Yuan; Zhang, Jian-Guo

    2015-09-22

    Epithelial-mesenchymal transition (EMT) plays an important role in the invasion and metastasis of salivary adenoid cystic carcinoma (SACC) which is characterized by wide local infiltration, perineural spread, a propensity to local recurrence and late distant metastasis. Our recent studies have disclosed that TGF-β is a crucial factor for EMT in metastatic SACC. In this study, we further uncovered small redox protein thioredoxin 1 (TXN) as a critical mediator of TGF-β induced EMT. Immunohistochemistry analysis revealed significantly higher expressions of TXN, thioredoxin reductase 1 (TXNRD1) and N-cadherin, and lower expression of E-cadherin in human metastatic SACC compared to non-metastatic SACC tissues. Consistently, cultured SACC cells with stable TXN overexpression had decreased E-cadherin and increased N-cadherin as well as Snail and Slug expressions. The enhanced migration and invasion potential of these cells was abrogated by Akt or TXNRD1 inhibitors. Expression of N-cadherin and Akt p-Akt decreased, whereas E-cadherin expression increased in a BBSKE (TXNRD1 inhibitor)-dose-dependent manner. In a xenograft mouse model, TXN overexpression facilitated the metastatic potential of SACC-83 cells to the lung. Our results indicate that TXN plays a key role in SACC invasion and metastasis through the modulation of TGF-β-Akt/GSK-3β on EMT. TXN could be a potential therapeutic target for SACC. PMID:26325518

  4. SOD2 deregulation enhances migration, invasion and has poor prognosis in salivary adenoid cystic carcinoma.

    PubMed

    Chang, Boyang; Yang, Hang; Jiao, Yuan; Wang, Kefeng; Liu, Zhonghua; Wu, Peihong; Li, Su; Wang, Anxun

    2016-01-01

    This study aimed to investigate the role of SOD2 in the progression and metastasis of salivary adenoid cystic carcinoma (SACC). We analyzed the expression of SOD2 in 50 SACC patients. Then, the effects and mechanism of SOD2 on cell metastasis in a pair of different metastatic potential cell lines was investigated. SOD2 was deregulated in patients with SACC. Up-regulation of SOD2 was associated with distant metastasis and reduced overall survival and disease free - survival. Compared to SACC-83 cells (lower metastasis ability), SACC-LM cells (higher metastasis ability) had higher SOD2 activity and intracellular H2O2 concentrations, and protein levels of pERK1/2 and Slug, but had similar catalase protein level and activity. In SACC-LM, reducing the expression of SOD2 by SiRNA inhibited the metastasis ability and reduced the SOD2 activities, intracellular H2O2 concentrations, and protein levels of pERK1/2 and Slug. These effects were revised in SACC-83 after SOD2 overexpression. Moreover, in SACC-83, treated with H2O2, the metastasis was enhanced accompanied by increased protein levels of pERK1/2 and Slug. We confirmed that SOD2 play an important role in the development and prognosis of SACC and SOD2-dependent production of H2O2 contributes to metastasis of SACC through the ERK-Slug signaling pathway. PMID:27181103

  5. Notch2 signaling contributes to cell growth, invasion, and migration in salivary adenoid cystic carcinoma.

    PubMed

    Qu, Jing; Song, Min; Xie, Jian; Huang, Xiao-Yu; Hu, Xiao-Meng; Gan, Rui-Huan; Zhao, Yong; Lin, Li-Song; Chen, Jiang; Lin, Xu; Zheng, Da-Li; Lu, You-Guang

    2016-01-01

    Many studies have explored whether the Notch signaling pathway has a tumor-suppressive or an oncogenic role in various tumors; however, the role of the Notch signaling pathway in salivary adenoid cystic carcinoma (SACC) is still unknown. In this study, we attempt to define the role of Notch2 signaling in cell growth, invasion, and migration in SACC. We compared Notch2 expression in clinical SACC samples with that of normal samples by using immunohistochemical staining. Then, we down-regulated Notch2 expression to observe the effect of Notch2 on proliferation, invasion, migration, and the expression of known target genes of Notch signal pathway. According to our results, Notch2 expression was higher in SACC tissues compared with normal tissues. Knockdown of Notch2 inhibited cell proliferation, invasion, and migration in vitro and down-regulated the expression of HEY2 and CCND1. The results of this study suggest that Notch2 has an essential role in the cell growth, invasion, and migration of SACC. Notch2 may therefore be a potential target gene for the treatment of SACC by interfering with cell growth and metastasis. PMID:26427670

  6. Bmi-1 expression predicts prognosis in salivary adenoid cystic carcinoma and correlates with epithelial-mesenchymal transition-related factors.

    PubMed

    Yi, Chun; Li, Bin-Bin; Zhou, Chuan-Xiang

    2016-06-01

    Salivary adenoid cystic carcinoma (AdCC) is known for its high propensity to invade and metastasize. Bmi-1 acts as an oncogene by controlling cell cycle and self-renewal of adult stem cells, and its overexpression correlates with metastasis and poor prognosis in several cancers. Epithelial-mesenchymal transition (EMT) plays a central role in cancer metastasis. A key step in EMT is the down-regulation of E-cadherin that can be repressed by the transcriptional factors, such as Snail and Slug. In the present study, we investigated Bmi-1, Snail, Slug, and E-cadherin expression by immunohistochemistry in 102 patients with AdCC and analyzed statistically whether their expression correlated with clinicopathologic factors and prognosis. Reverse transcription-polymerase chain reaction was also performed in 22 tumor tissues and the adjacent noncancerous tissues to confirm Bmi-1 status in AdCCs. Our data demonstrated significant associations between the tumor metastasis and the expression of Bmi-1, Snail, Slug, and E-cadherin. Furthermore, a high level of Bmi-1 was not only correlated with the overexpression of Snail and Slug but also indicated an unfavorable metastasis-free survival and served as a high-risk marker for AdCC. In addition, Bmi-1 messenger RNA level was found much higher in AdCC tissues than in the adjacent noncancerous salivary gland tissues. Our results suggest that Bmi-1 may play a crucial role in AdCC progression by interaction with EMT-related markers and predict poor survival. PMID:27180058

  7. Adenoid cystic carcinoma of the submandibular gland with rare metastasis to the sternum in a 52-year-old male

    PubMed Central

    Alshammari, Abdullah; Eldeib, Omar Jamal; Eldeib, Ahmed Jamal; Saleh, Waleed

    2016-01-01

    Adenoid cystic carcinoma (ACC) is a rare tumor, described as being one of the most biologically destructive tumors of the head and neck. It is the most common malignancy that affects the minor salivary glands. Lung and bones are the most common regions of ACC distant metastasis. To the best of our knowledge, herein, we report the first ever case of latent isolated sternal metastasis from ACC in a 52-year-old gentleman, who was diagnosed to have ACC of the submandibular gland, excised 10 years ago. PMID:26933463

  8. Complete Recovery of Visual Disorder Following Surgical Resection of Adenoid Cystic Carcinoma Arising in the Pterygopalatine Fossa

    PubMed Central

    Du, Wei; Cui, Meng; Li, Peng; Wang, Jiheng; Luo, Ruihua; Qi, Jinxing; Zhao, Ming; Lou, Weihua

    2015-01-01

    Abstract Adenoid cystic carcinoma (ACC) arising in the pterygopalatine fossa was rare, only 3 cases have been reported. In previous literature, few authors reported whether the visual deficit could be resolved following the resection of the tumor. One patient with visual dysfunction induced by ACC arising in the pterygopalatine fossa was reported. Complete visual recovery was achieved following the operation. And the patient was satisfied with the appearance and the functional results in the follow-up. Visual loss contributed by the tumor in the pterygopalatine fossa could recover in selected patients. PMID:26039119

  9. Sinonasal Adenoid Cystic Carcinoma with Intracranial Invasion and Perineural Spread: A Case Report and Review of the Literature

    PubMed Central

    Sepúlveda, Ilson; Platin, Enrique; Delgado, Carolina; Rojas, Pablo

    2015-01-01

    We present the case of a 51-year-old patient with sinonasal adenoid cystic carcinoma (SACC). Computed tomography (CT) and magnetic resonance imaging (MRI) exams revealed an expansive process in the right nostril accompanied with perineural spread and invasion to the floor of the middle cranial fossa. Due to the size of the tumor and brain involvement, the Head and Neck Tumor Board (HNTB) recommended radiochemotherapy treatment to decrease the size of the lesion. Presently, the patient is undergoing treatment without major complications. PMID:26664774

  10. Sinonasal Adenoid Cystic Carcinoma with Intracranial Invasion and Perineural Spread: A Case Report and Review of the Literature.

    PubMed

    Sepúlveda, Ilson; Platin, Enrique; Delgado, Carolina; Rojas, Pablo

    2015-01-01

    We present the case of a 51-year-old patient with sinonasal adenoid cystic carcinoma (SACC). Computed tomography (CT) and magnetic resonance imaging (MRI) exams revealed an expansive process in the right nostril accompanied with perineural spread and invasion to the floor of the middle cranial fossa. Due to the size of the tumor and brain involvement, the Head and Neck Tumor Board (HNTB) recommended radiochemotherapy treatment to decrease the size of the lesion. Presently, the patient is undergoing treatment without major complications. PMID:26664774

  11. Expression of Autophagy and Reactive Oxygen Species-Related Proteins in Lacrimal Gland Adenoid Cystic Carcinoma

    PubMed Central

    Koo, Ja Seung; Kim, Ji Won

    2016-01-01

    Purpose To investigate the difference of expression of autophagy and reactive oxygen species (ROS) related proteins in adenoid cystic carcinoma (ACC) of lacrimal gland in comparison with ACC of salivary gland. Materials and Methods Formalin-fixed, paraffin-embedded tissue samples from patients pathologically diagnosed as lacrimal gland ACC (n=11) and salivary gland ACC (n=64) were used. Immunochemistry was used to measure expression of autophagy related proteins [beclin-1, light chain (LC) 3A, LC3B, p62, and BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 (BNIP3)] and ROS related proteins [catalase, thioredoxinreductase, glutathione S-transferasepi (GSTpi), thioredoxin interacting protein, and manganese superoxide dismutase (MnSOD)]. The prognostic factors related to disease-free and overall survival (OS) in lacrimal gland ACC by log-rank tests, were determined. Results GSTpi in stromal cells was more highly expressed in lacrimal gland ACC (p=0.006), however, MnSOD in epithelial cells was expressed more in salivary gland ACC (p=0.046). LC3B positivity and BNIP3 positivity in epithelial component were associated with shorter disease-free survival (both p=0.002), and LC3A positivity in stromal component was the factor related to shorter OS (p=0.005). Conclusion This is the first study to demonstrate the expression of autophagy and ROS related proteins in lacrimal gland ACC in comparison with the salivary gland ACC, which would provide a basis for further study of autophagy and ROS mechanism as novel therapeutic targets in lacrimal gland ACC. PMID:26847304

  12. Inhibition of STAT3 reduces proliferation and invasion in salivary gland adenoid cystic carcinoma

    PubMed Central

    Bu, Lin-Lin; Deng, Wei-Wei; Huang, Cong-Fa; Liu, Bing; Zhang, Wen-Feng; Sun, Zhi-Jun

    2015-01-01

    In this study, we accessed the expression and correlation of p-STAT3 with Survivin, Cyclin D1, CD147, Slug and Ki67 by immunohistochemical staining of human tissue microarray which contains 72 adenoid cystic carcinoma (AdCC), 12 pleomorphic adenoma (PMA) and 18 normal salivary gland (NSG) using digital pathological scanner and scoring system. We found that the expression of p-STAT3, Survivin, Slug, Cyclin D1 and CD147 was significantly increased in AdCC as compared with PMA and (or) NSG (p<0.05). While, the level of p-STAT3 and expression of Cyclin D1 and CD147 was not associated with pathological type of human AdCC (p>0.05). Correlation analysis of these proteins revealed that p-STAT3 up-regulates the expression of Survivin, Slug, Cyclin D1 and CD147 (p<0.05). Moreover, the activation of STAT3 was associated with proliferation marker Ki-67 (p<0.05). Selective inhibition of STAT3 by a small molecule S3I-201 significantly reduced human SACC-83 and SACC-LM cells proliferation, migration and invasion with the corresponding decrease in expression of Survivin, Slug, Cyclin D1 and CD147. These findings indicate that high phosphorylation level of STAT3 in AdCC is related to Survivin, Slug, Cyclin D1 and CD147. We suggest that the inhibition of STAT3 may be a novel strategy for neoadjuvant chemotherapeutic treatment of AdCC. PMID:26175943

  13. miR-98 functions as a tumor suppressor in salivary adenoid cystic carcinomas

    PubMed Central

    Liu, Xiaonan; Zhang, Wenchao; Guo, Hua; Yue, Jiuling; Zhuo, Shanshan

    2016-01-01

    Purpose miR-98, a member of the let-7 family of microRNAs, is downregulated in many malignant tumors and has been correlated with tumor progression. However, the roles of miR-98 in salivary adenoid cystic carcinomas (SACCs) are still unclear. Thus, we explored the role of miR-98 in the pathogenesis of SACCs. Methods Reverse transcription-polymerase chain reaction was used to quantify miR-98 expression in SACC cell lines as well as in the primary tumors and adjacent tissues. Target gene prediction was carried out using softwares such as miRanda, PicTar, and TargetScan, and the neuroblastoma RAS viral oncogene homologue (N-RAS) was chosen as a potential target gene. Subsequently, the regulatory role of miR-98 on N-RAS expression was examined by Western blotting and immunofluorescence assays. N-RAS expression was detected in SACC tissues and SACC cell lines using immunohistochemistry and Western blot, respectively. Furthermore, the associations between N-RAS expression and clinicopathological features were analyzed. Finally, the effects of miR-98 on the proliferation and metastasis of SACC cell lines were determined. Results miR-98 was downregulated in primary tissues and ACC-M cells. Meanwhile, N-RAS expression was significantly higher in SACC tissues than that in the adjacent tissues, and its overexpression was significantly associated with the clinical stage and tumor size. In addition, the overexpression of miR-98 in ACC-M cells inhibited cell proliferation, invasion, and migration in vitro. It also significantly decreased the expression of N-RAS and inhibited signaling through the PI3K/AKT and MAPK/ERK pathways. Conclusion These results indicate that miR-98 possibly acts as a tumor suppressor in SACC by negatively regulating the oncogene N-RAS. PMID:27042128

  14. Development and characterization of xenograft model systems for adenoid cystic carcinoma

    PubMed Central

    Moskaluk, Christopher A.; Baras, Alexander S.; Mancuso, Stefani; Fan, Hao; Davidson, Robert; Dirks, Dawn; Golden, Wendy; Frierson, Henry F.

    2014-01-01

    Adenoid Cystic Carcinoma (ACC) is one of the most common malignancies to arise in human salivary glands, and also arises in glandular tissue of other organ systems. To address the paucity of experimental model systems for this tumor type, we have undertaken a program of transplanting tissue samples of human ACC into immunodeficient nu/nu mice to create xenograft model systems. In 17 of 23 attempts (74%) xenograft tumors were successfully grown. In all cases, the histologic appearance of the donating tumor was recapitulated in the subsequent xenograft. Characterization of a subset of xenograft models by immunohistochemical biomarkers and by RNA transcript microarray analysis showed good fidelity in the recapitulation of gene expression patterns in the xenograft tumors compared to the human donor tumors. Since ACC is known to frequently contain a t(6;9) translocation that fuses the MYB and NFIB genes, fluorescence in situ hybridization (FISH) of twelve ACC xenograft models was performed that assayed MYB locus break-apart and MYB-NFIB locus fusion. 11/12 (92%) xenograft models revealed MYB locus rearrangement and 10/12 (83%) xenograft models showed evidence of fusion of the MYB and NFIB loci. The two related xenograft models (derived from primary and metastatic tumors, respectively, of the same human subject) were karyotyped, showing a t(1;6) translocation, suggesting MYB translocation to a novel fusion partner gene. Overall, our results indicate that ACC is amenable to xenografting and that ACC xenograft models recapitulate the molecular and morphologic characteristics of human tumors, suggesting utility as valid experimental and preclinical model systems for this disease. PMID:21709671

  15. Inhibition of STAT3 reduces proliferation and invasion in salivary gland adenoid cystic carcinoma.

    PubMed

    Bu, Lin-Lin; Deng, Wei-Wei; Huang, Cong-Fa; Liu, Bing; Zhang, Wen-Feng; Sun, Zhi-Jun

    2015-01-01

    In this study, we accessed the expression and correlation of p-STAT3 with Survivin, Cyclin D1, CD147, Slug and Ki67 by immunohistochemical staining of human tissue microarray which contains 72 adenoid cystic carcinoma (AdCC), 12 pleomorphic adenoma (PMA) and 18 normal salivary gland (NSG) using digital pathological scanner and scoring system. We found that the expression of p-STAT3, Survivin, Slug, Cyclin D1 and CD147 was significantly increased in AdCC as compared with PMA and (or) NSG (p<0.05). While, the level of p-STAT3 and expression of Cyclin D1 and CD147 was not associated with pathological type of human AdCC (p>0.05). Correlation analysis of these proteins revealed that p-STAT3 up-regulates the expression of Survivin, Slug, Cyclin D1 and CD147 (p<0.05). Moreover, the activation of STAT3 was associated with proliferation marker Ki-67 (p<0.05). Selective inhibition of STAT3 by a small molecule S3I-201 significantly reduced human SACC-83 and SACC-LM cells proliferation, migration and invasion with the corresponding decrease in expression of Survivin, Slug, Cyclin D1 and CD147. These findings indicate that high phosphorylation level of STAT3 in AdCC is related to Survivin, Slug, Cyclin D1 and CD147. We suggest that the inhibition of STAT3 may be a novel strategy for neoadjuvant chemotherapeutic treatment of AdCC. PMID:26175943

  16. Basement membrane heparan sulfate proteoglycan (perlecan) synthesized by ACC3, adenoid cystic carcinoma cells of human salivary gland origin.

    PubMed

    Kimura, S; Cheng, J; Toyoshima, K; Oda, K; Saku, T

    1999-02-01

    The biosynthesis of basement membrane heparan sulfate proteoglycan (HSPG), known as perlecan, in ACC3 cells established from a adenoid cystic carcinoma of the human salivary gland was studied using metabolic labeling and immunoprecipitation with discriminative antibodies specific for HSPG core protein. Treatment of immunoprecipitated HSPG with HNO2, heparitinase, and chondroitinase ABC revealed that ACC3 cells synthesized HSPG molecules composed of 470-kDa core protein and heparan sulfate but not of chondroitin sulfate. The core protein was shown to contain complex type N-linked oligosaccharides by digestion with N-glycanase and endoglycosidase H. Pulse-chase experiments showed that the mature form of HSPG was formed in the cells in 30 min and released into the medium thereafter. Degradation of HSPG was also found in the chase period of 3 h. In time course experiments, HSPG was found to be synthesized maximally at day 4 after plating, deposited in the cell layer maximally at day 6, and secreted maximally at day 8. This was also confirmed by immunofluorescence, Northern blotting, and in-situ hybridization. The results indicate that ACC3 cells synthesize, secrete and degrade basement membrane type HSPG, which is analogous to those produced by other cell types, and that the biosynthesis and secretion of HSPG in ACC3 cells are strictly regulated by the cell growth, that may be reflected in the characteristic histology of adenoid cystic carcinomas. PMID:9990141

  17. Synergistic effect of nanosecond pulsed electric field combined with low-dose of pingyangmycin on salivary adenoid cystic carcinoma.

    PubMed

    Qi, Wei; Guo, Jinsong; Wu, Shan; Su, Bo; Zhang, Lei; Pan, Jie; Zhang, Jue

    2014-05-01

    Adenoid cystic carcinoma (ACC) is one of the most common malignant neoplasms in salivary glands. To evaluate the therapeutic effects of nanosecond pulsed electric field (nsPEF) combined with pingyangmycin (PYM) on salivary gland adenoid cystic carcinoma (SACC), ACC high metastatic cell line (SACC-LM) and low metastatic cell line (SACC‑83) were tested by CCK-8 assay, cell clonogenic assay, flow cytometry and Transwell assay. Extracellular matrix metalloproteinase inducer (EMMPRIN) expression was tested by western blotting to verify the synergistic mechanism of nsPEF and PYM. The results showed that nsPEF inhibited the cell proliferation of both cell lines, and the inhibitory effect was strongly associated with time and electrical field strength. Moreover, PYM combined with nsPEF may enhance the suppression effect significantly, even at a very low dose (0.01 µg/ml). The synergistic effects may contribute to the downregulation of EMMPRIN expression resulting from the application of nsPEF. For SACC, nsPEF combined with chemotherapy agents may be a valuable strategy not only to improve the treatment effect and prognosis, but also to reduce the side-effects of chemotherapy. PMID:24604118

  18. Expression of SKA1 and MMP-9 in primary salivary adenoid cystic carcinoma: Correlation with tumor progression and patient prognosis.

    PubMed

    Zhao, Lijuan; Jiang, Licheng; Du, Pinggong; Zhang, Dongyan; Liu, Zhonghao; Li, Keyi; Zhang, Bin

    2016-06-01

    Conclusion The spindle and kinetochore-associated complex sub unit 1(SKA1) and matrix metalloproteinase-9 (MMP-9) are highly expressed in salivary adenoid cystic carcinoma (SACC), and SKA1 may be the novel, promising prognostic factor for clinical outcomes in head and neck adenoid cystic carcinoma patients. Objectives This study aimed to investigate the expression of SKA1 and MMP-9 in SACC tissues and the clinical significance. Methods SKA1 and MMP-9 expression in samples from 42 cases of SACC and 20 subjects with the normal tissue adjacent to carcinoma were detected by immunohistochemical analysis. Results The positive rate of SKA1 and MMP-9 staining was 78.6% and 66.7% in SACC, respectively, significantly higher than in normal salivary gland tissues (p < 0.001). Chi-square test showed that there was no significant correlation between SKA1 expression and MMP-9 expression in SACC tissues. However, SKA1 and MMP-9 expression was positively associated with advanced stage and solid histological pattern of SACC (p < 0.05). In addition, SKA1 and MMP-9 expression was positively associated with recurrence and perineural invasion, and survival time, respectively. PMID:26881872

  19. Slug silencing inhibited perineural invasion through regulation of EMMPRIN expression in human salivary adenoid cystic carcinoma.

    PubMed

    Wu, Baolei; Wei, Jianhua; Hu, Zhiqiang; Shan, Chun; Wang, Lei; Zhang, Chenping; Yang, Xi; Yang, Xinjie; Lei, Delin

    2016-02-01

    Salivary adenoid cystic carcinoma (SACC) is the most frequent salivary gland malignancy with a unique characteristic that has been named perineural invasion (PNI). EMMPRIN is a transmembrane glycoprotein that has been demonstrated to promote PNI in SACC. Slug, one of the most effective promoters of the epithelial-to-mesenchymal transition (EMT), has been found to be associated with PNI in SACC. The aim of the present study was to investigate the roles and relationships of Slug, EMMPRIN, and E-cadherin in the PNI process of SACC. The expression levels of Slug, EMMPRIN, and E-cadherin in 115 primary SACC cases were statistically analyzed by immunohistochemistry. Simultaneously, the SACC cell line SACC-83 was transfected with recombinant plasmids of silencing Slug (si-Slug) and/or silencing EMMPRIN (si-EMMPRIN). The functions of Slug and EMMPRIN in the EMT and PNI process were assessed by reverse transcription PCR (RT-PCR), western blotting, morphological observation, scratch test, migration assay, and in vitro perineural invasion assay. The immunohistochemical statistics revealed that the high expression of Slug and EMMPRIN and the low expression of E-cadherin were significantly associated with the PNI of SACC (P < 0.05). Slug expression was significantly associated with EMMPRIN expression (P < 0.05), and Slug expression and EMMPRIN expression were both significantly negatively associated with E-cadherin expression (P < 0.05). Slug and EMMPRIN silencing both significantly inhibited EMMPRIN expression but promoted E-cadherin expression in SACC-83 cells (P < 0.01). The series of in vitro assays revealed that silencing of Slug, EMMPRIN, or both induced cell morphology changes and inhibited tumor cell motility and PNI ability in SACC-83 cells (P < 0.01). These results suggested that Slug silencing could inhibit the EMT process by downregulating EMMPRIN and then upregulating E-cadherin in the PNI process of SACC. The present study indicated that Slug

  20. Adenoid removal

    MedlinePlus

    ... This does not cause problems most of the time. Alternative Names Adenoidectomy; Removal of adenoid glands Images Adenoid removal - series References Wetmore RF. Tonsils and adenoids. In: Kliegman ...

  1. Solid Variant of Adenoid Cystic Carcinoma of the Breast: A Case Series With Proposal of a New Grading System.

    PubMed

    Foschini, Maria P; Rizzo, Antonio; De Leo, Antonio; Laurino, Licia; Sironi, Maria; Rucco, Vittorio

    2016-04-01

    Adenoid cystic carcinoma (ACC) of the breast is a low-grade malignancy "triple negative" breast tumor. ACC of the breast can present a great variety of morphological features having a prognostic impact. Recently, cases of ACC having solid-basaloid features (SBACC) have been described. In the present study, 6 cases of SBACC have been reported. All the cases affected female patients aged 47 to 69 years (mean = 54 years). Two patients had metastases to the axillary lymph nodes, and 2 patients experienced local recurrences. No deaths due to the tumor were observed. A review of the literature on breast SBACC showed that local recurrences and lymph node metastases are more frequent than in the ACC conventional type; nevertheless, no deaths due to the tumor are registered at the moment. On the contrary, cases of ACC with features of malignant transformation are on record. Therefore, a new grading system on breast ACC is proposed. PMID:26378056

  2. Cervical Lymph Node Metastasis in High-Grade Transformation of Head and Neck Adenoid Cystic Carcinoma: A Collective International Review.

    PubMed

    Hellquist, Henrik; Skálová, Alena; Barnes, Leon; Cardesa, Antonio; Thompson, Lester D R; Triantafyllou, Asterios; Williams, Michelle D; Devaney, Kenneth O; Gnepp, Douglas R; Bishop, Justin A; Wenig, Bruce M; Suárez, Carlos; Rodrigo, Juan P; Coca-Pelaz, Andrés; Strojan, Primož; Shah, Jatin P; Hamoir, Marc; Bradley, Patrick J; Silver, Carl E; Slootweg, Pieter J; Vander Poorten, Vincent; Teymoortash, Afshin; Medina, Jesus E; Robbins, K Thomas; Pitman, Karen T; Kowalski, Luiz P; de Bree, Remco; Mendenhall, William M; Eloy, Jean Anderson; Takes, Robert P; Rinaldo, Alessandra; Ferlito, Alfio

    2016-03-01

    Adenoid cystic carcinoma (AdCC) is among the most common malignant tumors of the salivary glands. It is characterized by a prolonged clinical course, with frequent local recurrences, late onset of metastases and fatal outcome. High-grade transformation (HGT) is an uncommon phenomenon among salivary carcinomas and is associated with increased tumor aggressiveness. In AdCC with high-grade transformation (AdCC-HGT), the clinical course deviates from the natural history of AdCC. It tends to be accelerated, with a high propensity for lymph node metastasis. In order to shed light on this rare event and, in particular, on treatment implications, we undertook this review: searching for all published cases of AdCC-HGT. We conclude that it is mandatory to perform elective neck dissection in patients with AdCC-HGT, due to the high risk of lymph node metastases associated with transformation. PMID:26895332

  3. Association between clinical features, treatment, and recurrence rate of adenoid cystic carcinoma of the palate: a 10-year retrospective study.

    PubMed

    Tabrizi, Reza; Aliabadi, Ehsan; Maleki, Mohammad Javad; Barouj, Mehrdad Dehghanpour

    2016-07-01

    Adenoid cystic carcinoma (ACC) is both invasive and clinically unpredictable, and our aim was to evaluate the factors that affect its recurrence in the palate. We retrospectively studied 38 patients who had ACC of the palate treated surgically, and the outcome measure was recurrence during the mean (SD) followup time of 55 (18) months. Age, sex, T-stage, bony involvement, duration of follow up, histological type, perineural invasion, and surgical margins were all recorded. Results showed no association between recurrence, and age or histopathological types. However, T-stage (p=0.001), sex (p=0.04), and bony and perineural involvement (p=0.01 in each case) were significantly associated with recurrent tumour. Close superior and posterior margins (< 2mm) were also associated with recurrence (p=0.001 in each case). Large tumours with bony and perineural involvement, together with close superior and posterior surgical margins, had a higher risk of recurrence. PMID:27094499

  4. [Nasopharyngeal adenoid cystic carcinoma, a rare but highly challenging disease with unmet therapeutic needs: A case-report and review of the literature].

    PubMed

    Afani, L; Errihani, H; Benchafai, I; Lalami, Y

    2016-07-01

    Nasopharyngeal adenoid cystic carcinoma is a rare tumour. Compared with others nasopharyngeal tumours, it is characterised by slow evolution but it is locally aggressive and has a high tendency to recurrences. Due to the rarity of cases, no consensus exists about treatment approaches. We report the case of 45-year-old-man with a locally advanced adenoid cystic carcinoma. The patient received concurrent chemoradiation and had a good objective response. After one year, he developed a paucisymptomatic lung metastasis. The follow-up showed local recurrence after 3 years. One cycle of chemotherapy was given but poorly supported. Carbon ion radiotherapy was proposed. The aim of this work is to review the literature concerning this rare malignancy and discusses treatment approaches in initial situations and during recurrences. PMID:27131394

  5. [Cystic cancer of the kidney].

    PubMed

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

    1997-01-01

    Cystic renal cancer is uncommon and raises real preoperative diagnostic problems, requiring the use of medical imaging, and sometimes even surgery. The authors report 3 cases of cystic renal cancer in 2 men and 1 woman, aged 87, 67 and 20 years, respectively. Three patients presented with the urological triad (haematuria, pain and lumbar mass). Ultrasonography suggested the diagnosis of cystic cancer in all 3 cases. Computed tomography was performed in 2 patients and more precisely confirmed the ultrasound findings. Selective arteriography, performed in one patient, confirmed the hypothesis of malignancy. Surgical exploration resulted in radical total nephrectomy. Histology confirmed the diagnosis of adenocarcinoma. The course was favourable in 2 cases after a follow-up of 4 years. One patient presented a local recurrence with pulmonary metastases 6 months after the operation. A review of the literature illustrates the diagnostic difficulties of this form of renal cancer. PMID:9509236

  6. miR-24-3p Suppresses Malignant Behavior of Lacrimal Adenoid Cystic Carcinoma by Targeting PRKCH to Regulate p53/p21 Pathway

    PubMed Central

    Zhang, Hong; Tang, Hua

    2016-01-01

    MicroRNA (miRNA) may function as an oncogene or a tumor suppressor in tumorigenesis. However, the mechanism of miRNAs in adenoid cystic carcinoma (ACC) is unclear. Here, we provide evidence that miR-24-3p was downreglated and functions as a tumor suppressor in human lacrimal adenoid cystic carcinoma by suppressing proliferation and migration/invasion while promoting apoptosis. miR-24-3p down-regulated protein kinase C eta (PRKCH) by binding to its untranslated region (3’UTR). PRKCH increased the of the cell growth and migration/invasion in ACC cells and suppressed the expression of p53 and p21 in both mRNA and protein level. The overexpression of miR-24-3p decreased its malignant phenotype. Ectopic expression of PRKCH counteracted the suppression of malignancy induced by miR-24-3p, as well as ectopic expression of miR-24-3p rescued the suppression of PRKCH in the p53/p21 pathway. These results suggest that miR-24-3p promotes the p53/p21 pathway by down-regulating PRKCH expression in lacrimal adenoid cystic carcinoma cells. PMID:27351203

  7. Adenoid cystic carcinoma of the head and neck treated by surgery with or without postoperative radiation therapy: Prognostic features of recurrence

    SciTech Connect

    Chen, Allen M.; Bucci, M. Kara . E-mail: mkbucci@mdanderson.org; Weinberg, Vivian; Garcia, Joaquin; Quivey, Jeanne M.; Schechter, Naomi R.; Phillips, Theodore L.; Fu, Karen K.; Eisele, David W.

    2006-09-01

    Purpose: This study sought to review a single-institution experience with the management of adenoid cystic carcinoma of the head and neck. Methods and Materials: Between 1960 and 2004, 140 patients with adenoid cystic carcinoma of the head and neck were treated with definitive surgery. Ninety patients (64%) received postoperative radiation to a median dose of 64 Gy (range, 54-71 Gy). Distribution of T stage was: 26% T1, 28% T2, 20% T3, and 26% T4. Seventy-eight patients (56%) had microscopically positive margins. Median follow-up was 66 months (range, 7-267 months). Results: The 5- and 10-year rate estimates of local control were 88% and 77%, respectively. A Cox proportional hazards model identified T4 disease (p = 0.0001), perineural invasion (p = 0.008), omission of postoperative radiation (p = 0.007), and major nerve involvement (p = 0.02) as independent predictors of local recurrence. Radiation dose lower than 60 Gy (p = 0.0004), T4 disease (p 0.005), and major nerve involvement (p = 0.02) were predictors of local recurrence among those treated with surgery and postoperative radiation. The 10-year overall survival and distant metastasis-free survival were 64% and 66%, respectively. Conclusion: Combined-modality therapy with surgery followed by radiation to doses in excess of 60 Gy should be considered the standard of care for adenoid cystic carcinoma of the head and neck.

  8. Knockdown of the T-box transcription factor Brachyury increases sensitivity of adenoid cystic carcinoma cells to chemotherapy and radiation in vitro: Implications for a new therapeutic principle

    PubMed Central

    KOBAYASHI, YOSUKE; SUGIURA, TSUYOSHI; IMAJYO, IKUMI; SHIMODA, MIYUKI; ISHII, KOTARO; AKIMOTO, NAONARI; YOSHIHAMA, NAOYA; MORI, YOSHIHIDE

    2014-01-01

    Adenoid cystic carcinoma (AdCC) is highly metastatic and resistant to chemotherapy and radiotherapy. Recently, we reported that the T-box transcription factor Brachyury is a potential regulator of cancer stem cells (CSCs). Specifically, growth of CSCs was found to be controlled by Brachyury knockdown in AdCC. Since CSCs are resistant to chemotherapy and radiotherapy, this finding provides a new principle for therapies targeting CSCs. In the present study, we established that Brachyury knockdown suppresses chemoresistance and radioresistance in vitro. Brachyury was knocked down by transfecting Brachyury short hairpin RNA (shRNA) into the AdCC CSC cell line ACCS-M GFP. Brachyury knockdown significantly inhibited cell migration and invasion and suppressed chemoresistance. A quantitative PCR array of drug transporter genes revealed that knockdown of Brachyury caused downregulation of ATP-binding cassette transporter genes. Furthermore, ACCS-M GFP radioresistance was significantly suppressed by Brachyury knockdown. Knockdown of Brachyury significantly sensitized ACCS-M GFP cells to chemoradiotherapy. This study demonstrates that Brachyury knockdown reduces invasiveness and chemoresistance and radioresistance of CSCs in vivo. Therefore, Brachyury knockdown may be a useful therapeutic tool for sensitizing CSCs to conventional chemoradiotherapy. PMID:24504414

  9. Myoepithelial differentiation in cribriform, tubular and solid pattern of adenoid cystic carcinoma: A potential involvement in histological grading and prognosis.

    PubMed

    Du, Fei; Zhou, Chuan-Xiang; Gao, Yan

    2016-06-01

    Adenoid cystic carcinoma (AdCC) is known as a biphasic tumor composed of ductal and myoepithelial cells. The present study aimed to evaluate the amount and distribution of the myoepithelial cells in cribriform, tubular and solid subtypes of AdCC and analyze their relationship with histological grading and prognosis. A panel of myoepithelial markers including CK5/6, p63, p40, D2-40, calponin, α-SMA, S-100, and vimentin, together with a luminal cell marker CK7, and Ki-67 were used for immunohistochemical study in 109 AdCCs that included 38 cribriform, 36 tubular and 35 solid subtypes. The myoepithelial cells were labeled and found lined cystic-like paces, located at the periphery of the cribriform arrangements, and presented at the nonluminal cells of the two-layered tubular structures, while absent or dispersed in the solid pattern. Meantime, the solid subtype presented a higher proliferation rate assessed by mitotic count and Ki-67 labeling index, followed by poorer overall survival and recurrent-free survival. Furthermore, CK7 expression was found higher in solid pattern than in cribriform-tubular subtype, which showed negative correlation with the myoepithelial markers including D2-40, Calponin, α-SMA, p63, p40 and vimentin. The solid pattern of AdCC showed gland differentiation but loss of myoepithelial differentiation with a higher proliferation and more aggressiveness as well as poorer prognosis compared with the cribriform-tubular subtypes, which implies that loss of MEC differentiation might contribute to the poor prognosis of the solid subtype of AdCC. However, further studies are required to clarify its exact role in AdCC progression. PMID:27180054

  10. Induction of autophagy-dependent cell death by the survivin suppressant YM155 in salivary adenoid cystic carcinoma.

    PubMed

    Wang, Yu-Fan; Zhang, Wei; He, Ke-Fei; Liu, Bing; Zhang, Lu; Zhang, Wen-Feng; Kulkarni, Ashok B; Zhao, Yi-Fang; Sun, Zhi-Jun

    2014-04-01

    Adenoid cystic carcinoma (ACC) is one of the most common malignancies of the major and minor salivary glands. However, the molecular mechanism underlying the aggressive growth of human salivary ACC remains unclear. In the present study, we showed that survivin, which belongs to the family of inhibitors of apoptosis, is closely related to the high expression of CDK4 and cyclin D1 in human ACC specimens. By employing the small-molecule drug YM155, we found that the inhibition of survivin in ACC cells caused significant cell death and induced autophagy. Chloroquine, an autophagy inhibitor, prevented cell death induced by YM155, suggesting YM155-induced autophagy contributed to the cell death effects in ACC cells. More importantly, evidence obtained from a xenograft model using ACC-2 cells proved the occurrence of YM155-induced autophagy and cell death in vivo was correlated with the suppression of Erk1/2 and S6 activation as well as increased TFEB nuclear translocation. Taken together, our results indicate YM155 is a novel inducer of autophagy-dependent cell death and possesses therapeutic potential in ACC. PMID:24370995

  11. Inhibition of survivin reduces HIF-1α, TGF-β1 and TFE3 in salivary adenoid cystic carcinoma.

    PubMed

    Wang, Yu-Fan; Ma, Si-Rui; Wang, Wei-Ming; Huang, Cong-Fa; Zhao, Zhi-Li; Liu, Bing; Zhang, Wen-Feng; Zhao, Yi-Fang; Zhang, Lu; Sun, Zhi-Jun

    2014-01-01

    In the present study, we explored the expression and correlation of survivin with HIF-1α, TGF-β1 and TFE3 in adenoid cystic carcinoma (AdCC). The expression of survivin, HIF-1α, TGF-β1 and TFE3 was assessed by immunohistochemical staining of a tissue microarray containing tissue samples of normal salivary gland (NSG), pleomorphic adenoma (PA) and AdCC. Correlation analysis of these proteins revealed that increased survivin expression was associated with the overexpression of HIF-1α (P<0.001, r = 0.5599), TGF-β1 (P<0.001, r = 0.6616) and TFE3 (P<0.001, r = 0.7747). The expression of survivin, HIF-1α, TGF-β1 and TFE3 was not correlated with the pathological type of human AdCC (P>0.05). Selective inhibition of survivin by YM155 and siRNA significantly reduced human SACC-83 cell proliferation, with the corresponding decrease in expression of HIF-1α, TGF-β1 and TFE3. The data indicate that the overexpression of survivin in AdCC is related to HIF-1α, TGF-β1 and TFE3. We hypothesize from these findings that the inhibition of survivin may be a novel strategy for neoadjuvant chemotherapeutic and radiosensitive treatment of AdCC. PMID:25485635

  12. RadioImmunotherapy for adenoid cystic carcinoma: a single-institution series of combined treatment with cetuximab

    PubMed Central

    2010-01-01

    Background Local control in adjuvant/definitive RT of adenoid cystic carcinoma (ACC) is largely dose-dependent. However, some clinical situations do not allow application of tumouricidal doses (i.e. re-irradiation) hence radiation sensitization by exploitation of high endothelial growth factor receptor (EGFR)-expression in ACC seems beneficial. This is a single-institution experience of combined radioimmunotherapy (RIT) with the EGFR-inhibitor cetuximab. Methods Between 2006 and 2010, 9 pts received RIT for advanced/recurrent ACC, 5/9 pts as re-irradiation. Baseline characteristics as well as treatment parameters were retrieved to evaluate efficacy and toxicity of the combination regimen were evaluated. Control rates (local/distant) and overall survival were calculated using Kaplan-Meier estimation. Results Median dose was 65 Gy, pts received a median of 6 cycles cetuximab. RIT was tolerated well with only one °III mucositis/dysphagia. Overall response/remission rates were high (77,8%); 2-year estimate of local control was 80% hence reaching local control levels comparable to high-dose RT. Progression-free survival (PFS) at 2 years and median overall survival were only 62,5% and 22,2 mo respectively. Conclusion While local control and treatment response in RIT seems promising, PFS and overall survival are still hampered by distant failure. The potential benefit of RIT with cetuximab warrants exploration in a prospective controlled clinical trial. PMID:21047402

  13. Histochemical study of the biphasic cellular pattern of tubular adenoid cystic carcinoma with azophloxine, amidoblack and acid blue.

    PubMed

    Triantafyllou, A; Eleftheriadis, E; Martis, C

    1989-01-01

    A tubular adenoid cystic carcinoma of the soft palate was studied histochemically using tannic acid-phosphomolybdic acid-Azophloxine (TPAzf), tannic acid-phosphomolybdic acid-Amidoblack (TPA) and tannic acid-phosphomolybdic acid-Acid Blue techniques. At the periphery of some tumor nests a few spindle cells were noted stained intensely red, blue-green and dark blue with TPAzf, TPA and TPAcB respectively. The apical portion or the whole cytoplasm of the cuboidal, eosinophilic cells that lined the central lumina of most neoplastic nests showed a similar tinctorial behavior. On the basis of their location and staining properties, the spindle cells were recognized as myoepithelial. On the other hand, the tinctorial behavior of eosinophilic cells was attributed to the dye binding by a conspicuous terminal bar-terminal web system or by tonofibrils accumulated in their cytoplasm as a result of squamous metaplasia. An inverse relation between the presence of myoepithelial cells at the periphery of tumor nests and the increasing thickness of terminal bar-terminal web system or the appearance of numerous tonofibrils in the eosinophilic cells was also noted. PMID:2551212

  14. Adenoid cystic carcinoma of the right main bronchus showing squamous differentiation and mimicking mucoepidermoid carcinoma: a case report.

    PubMed

    Tajima, Shogo; Koda, Kenji

    2015-01-01

    Complete dissection of tracheobronchial adenoid cystic carcinoma (TACC) by surgery alone is sometimes difficult and has a greater propensity than tracheobronchial mucoepidermoid carcinoma (TMEC) for its surgical margin to become positive. In addition, TACC is more likely to present distant metastases than TMEC. Considering these facts, TACC and TMEC should be differentiated based on histopathological examination of biopsy specimens. Herein, we present a case of 54-year-old woman with a tumor in the right main bronchus, whose biopsy specimen was difficult to diagnose as TACC or TMEC. The specimen from the rounded protrusion of the tumor showed squamous differentiation, along with the presence of glandular and basaloid cells, making morphological examination alone ineffective in rendering a definite diagnosis. Thus, the addition of immunohistochemical analysis, αSMA and CD43 expression in basaloid cells and c-kit expression in glandular cells, was useful for accurately diagnosing TACC in this case. The squamous component was considered to be neoplastic because of its increased expression of cyclin D1 and overexpression of p16. The surgically resected specimen contained typical morphology of ACC, and the diagnosis of TACC was definitely confirmed. PMID:26191305

  15. Expression of RECK and MMP-2 in salivary adenoid cystic carcinoma: Correlation with tumor progression and patient prognosis.

    PubMed

    Zhou, Xiaoqing; Huang, Shengyun; Jiang, Licheng; Zhang, Shizhou; Li, Wengang; Chen, Zhanwei; Zhang, Dongsheng

    2014-05-01

    Reversion-inducing cysteine-rich protein with Kazal motifs (RECK), a glycosylphosphatidylinositol-anchored glycoprotein, inhibits the enzymatic activities of certain matrix metalloproteinases (MMPs). RECK has been studied in numerous human tumors, but the expression of RECK in salivary adenoid cystic carcinoma (SACC), and its correlation with patient prognosis, has never been investigated thus far. In the present study, the expression of RECK and MMP-2 was evaluated in two ACC cell lines and in 83 patients with SACC. The results of quantitative polymerase chain reaction and western blot analysis revealed that the ACC-2 and ACC-M cell lines expressed RECK and MMP-2 mRNA and protein. The immunohistochemical staining in the patients demonstrated that positive expression of RECK and MMP-2 was observed in 21/83 (25.3%) and 69/83 (83.1%) cases, respectively, and that RECK expression was significantly associated with the tumor-node-metastasis stage, histological grade and perineural invasion of patients with SACC (P<0.05). Furthermore, there was a significant association between the positive expression of RECK and that of MMP-2 (P<0.0001). Univariate and multivariate analyses confirmed that a lack of RECK expression was an independent and significant factor for the prediction of a poor prognosis. In conclusion, RECK is a promising prognostic marker and potential therapeutic agent in SACC. PMID:24765174

  16. Prevalence and associated survival of high-risk HPV-related adenoid cystic carcinoma of the salivary glands.

    PubMed

    Qian, Xu; Kaufmann, Andreas M; Chen, Chao; Tzamalis, Georgios; Hofmann, Veit M; Keilholz, Ulrich; Hummel, Michael; Albers, Andreas E

    2016-08-01

    Adenoid cystic carcinoma (SACC) is a rare malignancy, but a frequent subtype in minor and major salivary glands. The molecular alterations or biomarkers that underlie its development and progression as well as therapy outcomes are poorly characterized. The main study goal was to investigate reliable biomarkers and patient-related factors that may have impact on recurrence and long-term survival of SACC. The prevalence of human papilloma virus (HPV) in SACC was determined by HPV-DNA genotyping and p16 immunostaining. Epithelial growth factor receptor (EGFR), p53 and Ki-67 expression were also evaluated. Twenty-eight (42%) of 67 patients were HPV-DNA positive. Kaplan-Meier analysis indicated that SACC patients with metastases (P=0.03) had a poor overall survival (OS) and a shorter recurrence-free survival (P<0.001). Positive resection margins significantly predicted shorter recurrence-free survival (P=0.01). In the multivariate analysis, non-metastatic disease (P=0.033) and p16 positivity (P=0.005) have shown their prediction value for OS while non-metastatic disease (P=0.002), HPV positivity (P=0.041) and negative resection margin predicted a better recurrence-free survival. The present study documents for the first time the positivity for HPV infection and overexpression of certain markers (p16, Ki-67, EGFR and p53) used in diagnostics in SACC as well as characterizes clinical entities. These factors might be exploited in the future as biomarkers for its prognostic value. Using the clinical and pathological basis for predicting different outcomes could significantly facilitate SACC stratification and potentially directing treatment. PMID:27279281

  17. Cervical lymph node metastasis in adenoid cystic carcinoma of oral cavity and oropharynx: A collective international review.

    PubMed

    Suárez, Carlos; Barnes, Leon; Silver, Carl E; Rodrigo, Juan P; Shah, Jatin P; Triantafyllou, Asterios; Rinaldo, Alessandra; Cardesa, Antonio; Pitman, Karen T; Kowalski, Luiz P; Robbins, K Thomas; Hellquist, Henrik; Medina, Jesus E; de Bree, Remco; Takes, Robert P; Coca-Pelaz, Andrés; Bradley, Patrick J; Gnepp, Douglas R; Teymoortash, Afshin; Strojan, Primož; Mendenhall, William M; Eloy, Jean Anderson; Bishop, Justin A; Devaney, Kenneth O; Thompson, Lester D R; Hamoir, Marc; Slootweg, Pieter J; Vander Poorten, Vincent; Williams, Michelle D; Wenig, Bruce M; Skálová, Alena; Ferlito, Alfio

    2016-10-01

    The purpose of this study was to suggest general guidelines in the management of the N0 neck of oral cavity and oropharyngeal adenoid cystic carcinoma (AdCC) in order to improve the survival of these patients and/or reduce the risk of neck recurrences. The incidence of cervical node metastasis at diagnosis of head and neck AdCC is variable, and ranges between 3% and 16%. Metastasis to the cervical lymph nodes of intraoral and oropharyngeal AdCC varies from 2% to 43%, with the lower rates pertaining to palatal AdCC and the higher rates to base of the tongue. Neck node recurrence may happen after treatment in 0-14% of AdCC, is highly dependent on the extent of the treatment and is very rare in patients who have been treated with therapeutic or elective neck dissections, or elective neck irradiation. Lymph node involvement with or without extracapsular extension in AdCC has been shown in most reports to be independently associated with decreased overall and cause-specific survival, probably because lymph node involvement is a risk factor for subsequent distant metastasis. The overall rate of occult neck metastasis in patients with head and neck AdCC ranges from 15% to 44%, but occult neck metastasis from oral cavity and/or oropharynx seems to occur more frequently than from other locations, such as the sinonasal tract and major salivary glands. Nevertheless, the benefit of elective neck dissection (END) in AdCC is not comparable to that of squamous cell carcinoma, because the main cause of failure is not related to neck or local recurrence, but rather, to distant failure. Therefore, END should be considered in patients with a cN0 neck with AdCC in some high risk oral and oropharyngeal locations when postoperative RT is not planned, or the rare AdCC-high grade transformation. PMID:27017314

  18. c-Kit Expression is Rate-Limiting for Stem Cell Factor-Mediated Disease Progression in Adenoid Cystic Carcinoma of the Salivary Glands12

    PubMed Central

    Phuchareon, Janyaporn; van Zante, Annemieke; Overdevest, Jonathan B.; McCormick, Frank; Eisele, David W.; Tetsu, Osamu

    2014-01-01

    Adenoid cystic carcinoma (ACC) is an aggressive malignant neoplasm of the salivary glands in which c-Kit is overexpressed and activated, although the mechanism for this is as yet unclear. We analyzed 27 sporadic ACC tumor specimens to examine the biologic and clinical significance of c-Kit activation. Mutational analysis revealed expression of wild-type c-Kit in all, eliminating gene mutation as a cause of activation. Because stem cell factor (SCF) is c-Kit's sole ligand, we analyzed its expression in the tumor cells and their environment. Immunohistochemistry revealed its presence in c-Kit–positive tumor cells, suggesting an activation of autocrine signaling. We observed a significant induction of ERK1/2 in the cells. SCF staining was also found in other types of non-cancerous cells adjacent to tumors within salivary glands, including stromal fibroblasts, neutrophils, peripheral nerve, skeletal muscle, vascular endothelial cells, mucous acinar cells, and intercalated ducts. Quantitative PCR showed that the top quartile of c-Kit mRNA expression distinguished ACCs from normal salivary tissues and was cross-correlated with short-term poor prognosis. Expression levels of SCF and c-Kit were highly correlated in the cases with perineural invasion. These observations suggest that c-Kit is potentially activated by receptor dimerization upon stimulation by SCF in ACC, and that the highest quartile of c-Kit mRNA expression could be a predictor of poor prognosis. Our findings may support an avenue for c-Kit-targeted therapy to improve disease control in ACC patients harboring the top quartile of c-Kit mRNA expression. PMID:25389449

  19. Fatty Acid Binding Protein 7 Is a Molecular Marker in Adenoid Cystic Carcinoma of the Salivary Glands: Implications for Clinical Significance12

    PubMed Central

    Phuchareon, Janyaporn; Overdevest, Jonathan B.; McCormick, Frank; Eisele, David W.; van Zante, Annemieke; Tetsu, Osamu

    2014-01-01

    Adenoid cystic carcinoma (ACC) is an aggressive malignant neoplasm of the salivary glands. Its diagnosis is difficult due to overlapping features with other salivary tumors. Gene expression analysis may complement traditional diagnostic methods. We searched gene expression patterns in the Gene Expression Omnibus (GEO) database and in our tumor and normal samples. The biologic and prognostic potential of the identified genes was analyzed. The GEO data set of primary xenografted ACCs revealed that expression of five genes, engrailed homeobox 1 (EN1), fatty acid binding protein 7 (FABP7), hemoglobin epsilon 1, MYB, and versican (VCAN), was dramatically increased. mRNA expression of EN1, FABP7, MYB, and VCAN distinguished our sporadic ACCs from normal tissues and benign tumors. FABP7 expression appeared to be regulated differently from EN1 and MYB and was crossly correlated with poor prognosis in our ACC cohort. Immunohistochemistry showed that FABP7 protein was predominantly expressed in the nucleus of myoepithelial cells of both tubular and cribriform subtypes. In contrast, in the solid subtype, which is often associated with a lower survival rate, FABP7 protein was uniformly expressed in cancerous cells. One case with cribriform architecture and the highest level of FABP7 mRNA showed strong FABP7 staining in both duct-type epithelial and myoepithelial cells, suggesting that diffuse expression of FABP7 protein might be related to aggressive tumor behavior and poor prognosis. We propose FABP7 as a novel biomarker in ACC. The molecule may be useful in diagnosis and for identifying more effective therapies targeting this protein or upstream molecules that regulate it. PMID:25500088

  20. Downregulation of p53 promotes in vitro perineural invasive activity of human salivary adenoid cystic carcinoma cells through epithelial-mesenchymal transition-like changes.

    PubMed

    Yang, Xiangming; Jing, Da; Liu, Lijun; Shen, Zhiyuan; Ju, Jun; Ma, Chao; Sun, Moyi

    2015-04-01

    Salivary adenoid cystic carcinoma (SACC) is a malignant tumor that is characterized by perineural invasion (PNI). p53 is an essential tumor-suppressor gene and p53 mutations play a critical role in tumor occurrence and progression (e.g., pancreatic, prostate and head and neck cancer). However, the regulatory role of the p53 gene in SACC and the PNI process remains unknown. In the present study, we employed RNA interference technique to downregulate p53 gene expression in SACC-83 cells to explore the role of p53 in the PNI process. Our results showed that the downregulation of the p53 gene induced significant 'epithelial-mesenchymal transition (EMT)-like changes' in SACC-83 cells, including decreased expression levels of epithelial markers (E-cadherin, EMA and CK5) and increased expression levels of mesenchymal markers (vimentin, N-cadherin and C-cadherin). The downregulation of p53 also caused a lower apoptotic index of Annexin V-FITC/PI and a lower number of SACC-83 cells in the second G0/G1 phase of the cell cycle. Furthermore, the downregulation of the p53 gene resulted in a significant increase in PNI activity in the SACC-83 cells. Thus, our findings revealed that downregulation of p53 promoted in vitro PNI activity through 'EMT-like changes' in SACC-83 cells. The present study suggests the essential regulatory role of p53 in the PNI activity of SACC cells, and implies that p53 may be a new target gene for the clinical treatment of SACC. PMID:25625376

  1. Expression of tumor-associated calcium signal transducer 2 in patients with salivary adenoid cystic carcinoma: Correlation with clinicopathological features and prognosis.

    PubMed

    Xia, Yichao; Li, Bo; Gao, Ning; Xia, Hui; Men, Yi; Liu, Ying; Liu, Zhe; Chen, Qianming; Li, Longjiang

    2014-10-01

    Salivary adenoid cystic carcinoma (SACC) is a common salivary malignancy. The current treatment option for SACC is complete surgical excision with postoperative radiotherapy. The prognosis remains unsatisfactory, due to frequent local recurrence and distant metastases that directly reduce the overall survival time. Previous studies have shown that overexpression of tumor-associated calcium signal transducer 2 (TACSTD2) is associated with poor prognosis in various human epithelial cancers. The expression of TACSTD2 in SACC is currently unknown. The present study therefore aimed to retrospectively investigate TACSTD2 protein expression by immunohistochemistry on paraffin-embedded primary tumor tissue samples from a series of consecutive SACC patients (n=81). The correlation of TACSTD2 expression with clinicopathological variables was evaluated using either the Kruskal-Wallis or Mann-Whitney statistical tests. The survival curves were plotted using the Kaplan-Meier method. The parameters of prognostic significance found by univariate analysis were verified in a multivariate Cox regression model. Overexpression of TACSTD2 was detected in 35/81 (44%) SACC patients and was significantly associated with a decreased overall survival (P<0.01). Univariate analysis showed that TACSTD2 overexpression was correlated with TNM stage (P=0.020), local recurrence (P=0.002) and distant metastasis (P=0.001). Multivariate analyses further revealed that TACSTD2 may be an independent prognostic indicator. In conclusion, TACTSD2 could be recognized as an independent prognostic indicator for SACC. Gene therapy targeting TACSTD2 may be a possible treatment approach for patients with SACC overexpressing this cell-surface marker. PMID:25202389

  2. Nimotuzumab suppresses epithelial-mesenchymal transition and enhances apoptosis in low-dose UV-C treated salivary adenoid cystic carcinoma cell lines in vitro.

    PubMed

    Jiang, Yang; Ge, Xi-Yuan; Liu, Shu-Ming; Zheng, Lei; Huang, Ming-Wei; Shi, Yan; Fu, Jia; Zhang, Jian-Guo; Li, Sheng-Lin

    2014-10-01

    Salivary adenoid cystic carcinoma (SACC), which is one of the most common malignant tumors of the salivary glands, is associated with a poor long-term outcome. There are currently few therapeutic options for patients with SACC. Recent studies have shown the potential of the application of ultraviolet-C (UV-C) irradiation for the treatment of human cancer. In the present study, we investigated the effects of UV-C in the SACC cell lines SACC-83 and SACC-LM. High-dose UV-C (200 J/m) induced apoptosis and inhibited colony formation significantly. However, low-dose UV-C (10 J/m), which had little effect on apoptosis and colony formation, increased the ability of migration in SACC cells accompanied by a decrease in E-cadherin and an increase in vimentin, suggesting the occurrence of epithelial-mesenchymal transition (EMT). Low-dose UV-C (10 J/m) also resulted in upregulation of the phosphorylated forms of epidermal growth factor receptor (EGFR) and Akt (p-EGFR and p-Akt, respectively). Pretreatment with Nimotuzumab, an anti-EGFR monoclonal antibody, reversed the EMT as well as upregulation of p-EGFR/p-Akt induced by UV-C. Moreover, Nimotuzumab enhanced UV-C induced apoptosis and inhibition of colony formation. Our results indicate that EMT exerts a protective effect against apoptosis induced by low-dose UV-C. Thus, the combined application of Nimotuzumab and low-dose UV-C in vitro has an advantageous antitumor effect in SACC compared with the application of UV-C alone. PMID:25035960

  3. A study on the inhibition of VEGF expression in salivary gland adenoid cystic carcinoma cells via iNOS gene RNAi in vitro.

    PubMed

    Ou Yang, Ke-Xiong; Liang, Jun; Yang, Zi-Nan; Zhao, Jian-Jiang

    2015-02-01

    In this study, we aimed to explore the effect of inducible nitric oxide synthase (iNOS) on vascular endothelial growth factor (VEGF) expression in salivary gland adenoid cystic carcinoma (SACC). Using RNAi, we transfected chemically synthesised iNOS siRNA into ACC-M cells (a highly metastatic adenoid cystic carcinoma cell line) and detected the change in the gene and protein expression levels of iNOS and VEGF by qRT-PCR and Western blotting. A transwell invasiveness assay was used to examine the changes in invasive ability of ACC-M cells. Cell growth was determined using a CCK-8 assay. Apoptosis and cell-cycle phases were detected by flow cytometry. We found that silencing iNOS down-regulated the expression of VEGF and then inhibited cell growth and invasiveness of SACC cells, while it increased apoptosis. Therefore, we concluded that iNOS can regulate VEGF expression and iNOS may be a therapeutic target. PMID:25065562

  4. Identification of methylated genes in salivary gland adenoid cystic carcinoma xenografts using global demethylation and methylation microarray screening

    PubMed Central

    LING, SHIZHANG; RETTIG, ELENI M.; TAN, MARIETTA; CHANG, XIAOFEI; WANG, ZHIMING; BRAIT, MARIANA; BISHOP, JUSTIN A.; FERTIG, ELANA J.; CONSIDINE, MICHAEL; WICK, MICHAEL J.; HA, PATRICK K.

    2016-01-01

    Salivary gland adenoid cystic carcinoma (ACC) is a rare head and neck malignancy without molecular biomarkers that can be used to predict the chemotherapeutic response or prognosis of ACC. The regulation of gene expression of oncogenes and tumor suppressor genes (TSGs) through DNA promoter methylation may play a role in the carcinogenesis of ACC. To identify differentially methylated genes in ACC, a global demethylating agent, 5-aza-2′-deoxycytidine (5-AZA) was utilized to unmask putative TSG silencing in ACC xenograft models in mice. Fresh xenografts were passaged, implanted in triplicate in mice that were treated with 5-AZA daily for 28 days. These xenografts were then evaluated for genome-wide DNA methylation patterns using the Illumina Infinium HumanMethylation27 BeadChip array. Validation of the 32 candidate genes was performed by bisulfite sequencing (BS-seq) in a separate cohort of 6 ACC primary tumors and 6 normal control salivary gland tissues. Hypermethylation was identified in the HCN2 gene promoter in all 6 control tissues, but hypomethylation was found in all 6 ACC tumor tissues. Quantitative validation of HCN2 promoter methylation level in the region detected by BS-seq was performed in a larger cohort of primary tumors (n=32) confirming significant HCN2 hypomethylation in ACCs compared with normal samples (n=10; P=0.04). HCN2 immunohistochemical staining was performed on an ACC tissue microarray. HCN2 staining intensity and H-score, but not percentage of the positively stained cells, were significantly stronger in normal tissues than those of ACC tissues. With our novel screening and sequencing methods, we identified several gene candidates that were methylated. The most significant of these genes, HCN2, was actually hypomethylated in tumors. However, promoter methylation status does not appear to be a major determinant of HCN2 expression in normal and ACC tissues. HCN2 hypomethylation is a biomarker of ACC and may play an important role in the

  5. An unusual case of exclusive liver metastases from adenoid cystic carcinoma of the submandibular gland: a role for surgery? Report of a case.

    PubMed

    Balducci, Genoveffa; Sagnotta, Andrea; Muroni, Mirko; Cacchi, Claudio; D'Amato, Alberto

    2011-04-01

    Adenoid cystic carcinoma (ACC) is a relatively rare tumor of the salivary glands, accounting for approximately 5%-10% of all salivary gland tumors. An important feature of ACCs is the long clinical course with a high rate of distant metastases, with an incidence of more than 40% for ACC of submandibular glands. The preferential sites of metastases are the lung and bone, followed by the brain and liver. Most liver metastases are derived from nonparotid ACCs, and the presentation is often related to local recurrence or metastases to other organs. We herein report the case of a patient with liver metastases treated by a hepatectomy, which occurred 18 months after the primary resection of an ACC of the submandibular gland. We furthermore review the literature concerning the management of these tumors. PMID:21431502

  6. Incidence of cervical lymph node metastasis and its association with outcomes in patients with adenoid cystic carcinoma. An international collaborative study

    PubMed Central

    Amit, Moran; Binenbaum, Yoav; Sharma, Kanika; Ramer, Naomi; Ramer, Ilana; Agbetoba, Abib; Glick, Joelle; Yang, Xinjie; Lei, Delin; Bjørndal, Kristine; Godballe, Christian; Mücke, Thomas; Wolff, Klaus-Dietrich; Fliss, Dan; Eckardt, André M.; Copelli, Chiara; Sesenna, Enrico; Palmer, Frank; Ganly, Ian; Patel, Snehal; Gil, Ziv

    2016-01-01

    Background The patterns of regional metastasis in adenoid cystic carcinoma (ACC) of the head and neck and its association with outcome is not established. Methods We conducted a retrospective multicentered multivariate analysis of 270 patients who underwent neck dissection. Results The incidence rate of neck metastases was 29%. The rate observed in the oral cavity is 37%, and in the major salivary glands is 19% (p = .001). The rate of occult nodal metastases was 17%. Overall 5-year survival rates were 44% in patients undergoing therapeutic neck dissections, and 65% and 73% among those undergoing elective neck dissections, with and without nodal metastases, respectively (p = .017). Multivariate analysis revealed that the primary site, nodal classification, and margin status were independent predictors of survival. Conclusion Our findings support the consideration of elective neck treatment in patients with ACC of the oral cavity. PMID:25060927

  7. Adenoid cystic carcinoma of the lower trachea treated by resection of 11 of 18 rings of the total length: report of a case.

    PubMed

    Nomori, Hiroaki; Abe, Masaru; Sugimura, Hiroshi; Takeshi, Akihiko

    2016-04-01

    We report the case of a 63-year-old woman with adenoid cystic carcinoma of the lower trachea treated by resection of 11 of the 18 cartilaginous rings (61%) of the total length. The little remaining membranous portion of the carina was sewn up to create a margin for anastomosis. The anastomotic sites could be approximated by the mobilization of the cervical trachea and the left main bronchus, pulling across the traction sutures, and anteflexion of the neck. The patient's postoperative course was uneventful without any complications associated with anastomosis. Because both the proximal and distal margins showed microscopic tumors, radiation therapy was performed with 50 Gy 2 months after surgery. The patient has a good social life without recurrence 20 months after surgery. PMID:25261213

  8. Primary adenoid cystic carcinoma of the skin metastatic to the lymph nodes: immunohistochemical study of a new case and literature review.

    PubMed

    Rocas, Delphine; Asvesti, Catherine; Tsega, Artemis; Katafygiotis, Patroklos; Kanitakis, Jean

    2014-03-01

    Primary cutaneous adenoid cystic carcinoma (PCACC) is a rare adnexal skin tumor first described in 1975, of which merely 62 cases have so far been studied in detail and reported in the English literature. PCACC is usually regarded as apocrine in origin/differentiation, but its precise histogenesis is still not well known. PCACC has in most cases a rather indolent course but can produce local recurrences and, more rarely, regional (lymph node) and distant (pulmonary) metastases. We report herein a Greek woman with a long-standing PCACC that grew slowly over several years and produced metastasis in the regional lymph nodes, highlighting the potentially aggressive course of this tumor. The primary and metastatic tumors were studied immunohistochemically and proved to express several (sweat gland-related) antigens (such as keratin 7, epithelial membrane antigen, CD10, and CD117) but neither hormonal receptors nor p63 or Gross Cystic disease Fluid Protein 15. The salient clinicopathologic features of this rare cutaneous adnexal tumor are reviewed. PMID:23812021

  9. SIKVAV, a Laminin α1-Derived Peptide, Interacts with Integrins and Increases Protease Activity of a Human Salivary Gland Adenoid Cystic Carcinoma Cell Line through the ERK 1/2 Signaling Pathway

    PubMed Central

    Freitas, Vanessa M.; Vilas-Boas, Vanessa F.; Pimenta, Daniel C.; Loureiro, Vania; Juliano, Maria A.; Carvalho, Márcia R.; Pinheiro, João J.V.; Camargo, Antonio C.M.; Moriscot, Anselmo S.; Hoffman, Matthew P.; Jaeger, Ruy G.

    2007-01-01

    Adenoid cystic carcinoma is a frequently occurring malignant salivary gland neoplasm. We studied the induction of protease activity by the laminin-derived peptide, SIKVAV, in cells (CAC2) derived from this neoplasm. Laminin α1 and matrix metalloproteinases (MMPs) 2 and 9 were immunolocalized in adenoid cystic carcinoma cells in vivo and in vitro. CAC2 cells cultured on SIKVAV showed a dose-dependent increase of MMP9 as detected by zymography and colocalization of α3 and α6 integrins. Small interfering RNA (siRNA) knockdown of integrin expression in CAC2 cells resulted in decreased adhesion to the peptide. SIKVAV affinity chromatography and immunoblot analysis showed that α3, α6, and β1 integrins were eluted from the SIKVAV column, which was confirmed by mass spectrometry and a solid-phase binding assay. Small interfering RNA experiments also showed that these integrins, through extracellular signal-regulated kinase (ERK) 1/2 signaling, regulate MMP secretion induced by SIKVAV in CAC2 cells. We propose that SIKVAV increases protease activity of a human salivary gland adenoid cystic carcinoma cell line through α3β1 and α6β1 integrins and the ERK 1/2 signaling pathway. PMID:17591960

  10. Adenoid removal

    MedlinePlus

    ... This is called electrocautery. Another method uses radiofrequency (RF) energy to do the same thing. This is ... Wetmore RF. Tonsils and adenoids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. ...

  11. Adenoid Cystic Carcinoma Metastatic to the Pituitary: A Case Report and Discussion of Potential Diagnostic Value of Magnetic Resonance Elastography in Pituitary Tumors.

    PubMed

    D Hughes, Joshua; Retzlaff, Amber; Sims, John; O'Brien, Erin; Giannini, Caterina; Huston, John; Van Gompel, Jamie J

    2016-07-01

    Adenoid cystic carcinoma (ACC) is an exocrine gland tumor accounting for approximately 10%-15% of all epithelial salivary neoplasms and occurs most often in the parotid and submandibular glands. Metastatic pituitary tumors are rare, and there is only 1 previously reported case of parotid ACC metastatic to the pituitary. Magnetic resonance elastography (MRE) is a dynamic magnetic resonance imaging (MRI)-based technique that measures the propagation of mechanically induced shear waves through a particular tissue to determine stiffness and offers a method to evaluate tissue consistency. We present the case of a 72-year-old woman with a remote history of parotid gland ACC and subsequent lung metastases presented after a fall that resulted in facial trauma. A non-contrast head computed tomography scan revealed a sellar/suprasellar mass, and follow-up MRI revealed a well-defined, enhancing 3.8-cm lesion. MRE showed the tumor to be firm. The tumor was resected through a transsphenoidal approach and was consistent with the MRE findings. Pathology returned as metastatic ACC. We report the second case of ACC metastatic to pituitary and the first firm pituitary tumor found by MRE and discuss the potential diagnostic value of MRE in pituitary lesions. PMID:27018011

  12. Epigallocatechin‑3‑gallate inhibits the invasion of salivary adenoid cystic carcinoma cells by reversing the hypermethylation status of the RECK gene.

    PubMed

    Zhou, Xiao-Qing; Xu, Xiao-Nan; Li, Lei; Ma, Jian-Jun; Zhen, En-Ming; Han, Cheng-Bing

    2015-10-01

    Epigallocatechin‑3‑gallate (EGCG) is an active and major constituent of green tea. As a non‑nucleoside inhibitor of DNA methylation, EGCG is able to inhibit the hypermethylation of newly synthesised DNA, resulting in the reversal of hypermethylation and recovery in expression of the silenced genes. Reversion‑inducing cysteine‑rich protein with Kazal motifs (RECK) is a novel tumour suppressor gene, which negatively regulates matrix metalloproteinases, and inhibits tumour invasion, angiogenesis and metastasis. The present study aimed to examine the effects of EGCG on the methylation status of the RECK gene and tumour invasion in a salivary adenoid cystic carcinoma (SACC) cell line in vitro. Marked levels of methylated and weak levels of unmethylated RECK promoter were detected in the SACC83 cells, which was determined using methylation‑specific polymerase chain reaction (PCR). In addition, the treatment of SACC83 cells with EGCG partially reversed the hypermethylation status of the RECK gene. Western blot analysis and reverse transcription‑PCR demonstrated that EGCG significantly enhanced the protein and mRNA expression levels of RECK, and significantly reduced the invasive ability of the SACC83 cells, as determined using a Transwell assay. These results suggested that EGCG possesses novel anti‑metastatic therapeutic potential for the treatment of SACC. PMID:26299812

  13. Recurrent Fusions in MYB and MYBL1 Define a Common, Transcription Factor-Driven Oncogenic Pathway in Salivary Gland Adenoid Cystic Carcinoma

    PubMed Central

    Brayer, Kathryn J.; Frerich, Candace A.; Kang, Huining; Ness, Scott A.

    2015-01-01

    Adenoid Cystic Carcinoma (ACC), the second most common malignancy of salivary glands, is a rare tumor with bleak prognosis for which therapeutic targets are unavailable. We used RNA-sequencing (RNA-seq) to analyze low-quality RNA from archival, formaldehyde-fixed, paraffin-embedded samples. In addition to detecting the most common ACC translocation, t(6;9) fusing the MYB proto-oncogene to NFIB, we also detected previously unknown t(8;9) and t(8;14) translocations fusing the MYBL1 gene to the NFIB and RAD51B genes, respectively. RNA-seq provided information about gene fusions, alternative RNA splicing and gene expression signatures. Interestingly, tumors with MYB and MYBL1 translocations displayed similar gene expression profiles, and the combined MYB and MYBL1 expression correlated with outcome, suggesting that the related Myb proteins are interchangeable oncogenic drivers in ACC. Our results provide important details about the biology of ACC and illustrate how archival tissue samples can be used for detailed molecular analyses of rare tumors. PMID:26631070

  14. Aberrant Wnt-1/beta-catenin signaling and WIF-1 deficiency are important events which promote tumor cell invasion and metastasis in salivary gland adenoid cystic carcinoma.

    PubMed

    Wang, Ruinan; Geng, Ning; Zhou, Yuqiao; Zhang, Dunfang; Li, Longjiang; Li, Jing; Ji, Ning; Zhou, Min; Chen, Yu; Chen, Qianming

    2015-01-01

    This study investigates whether Wnt components play a role in carcinogenesis, or the invasion and metastasis of salivary glands, also referred to as adenoid cystic carcinoma (sAdCC). Several sAdCC cell lines with low invasive potential (ACC-2), high metastatic potential (ACC-M), and higher invasive potential (T-ACC-M) were examined to determine whether Wnt components correlate with tumors' invasive and metastatic behavior. Immunohistochemistry was performed in a sAdCC tissue array. ACC-M expressed higher levels of Wnt-1, beta-catenin and lower WIF-1 compared to ACC-2 (P<0.05). T-ACC-M exhibited increased mRNA of Wnt-1 and beta-catenin, and decreased WIF-1 compared to ACC-2 and ACC-M. Immuno-histochemistry showed up-regulation of Wnt-1 and down-regulation of WIF-1 in sAdCC compared with normal salivary glands. Beta-catenin was found in the cytoplasm and nuclei of sAdCC. Dislocation of E-cadherin in sAdCC was observed. These results suggest that sAdCC exhibits diverse expressions of Wnt components. It has an important relationship with the invasive phenotype of these cells. PMID:26405993

  15. 1,25-Dihydroxyvitamin D3 alleviates salivary adenoid cystic carcinoma progression by suppressing GPX1 expression through the NF-κB pathway.

    PubMed

    Huang, Zhiquan; Liu, Yeqing; Huang, Zixian; Li, Haifeng; Gan, Xiangfeng; Shen, Zhuojian

    2016-03-01

    1,25-Dihydroxyvitamin D3 (1,25D3) is the active form of vitamin D with antineoplastic effects. The glutathione peroxidase-1 (GPX1) gene is associated with tumour progression. The present study aimed to explore the role of GPX1 in 1,25D3-mediated progression of salivary adenoid cystic carcinoma (SACC). Downregulating GPX1 expression inhibited SACC cell proliferation, chemoresistance, motility, and uPA secretion, but promoted apoptosis via the NF-κB pathway. Pre-processing 1,25D3 inhibited expression of NF-κB/GPX1/uPA, which subsequently suppressed cell motility and cisplatin-resistance in ACC-2 cells. In conclusion, 1,25D3 works as a modifier of NF-κB/GPX1/uPA expression, inhibiting cisplatin-resistance and cell invasive ability of SACC cells. The present study comprehensively elucidated the potential mechanism underlying the effects of vitamin D on chemoresistance and invasive potential in SACC. PMID:26782341

  16. EphA2 silencing promotes growth, migration, and metastasis in salivary adenoid cystic carcinoma: in vitro and in vivo study

    PubMed Central

    Wang, Meng; Zhao, Xiao-Ping; Xu, Zhi; Yan, Ting-Lin; Song, Yong; Song, Kai; Huang, Chun-Ming; Wang, Lin; Zhou, Xiao-Cheng; Jiang, Er-Hui; Shao, Zhe; Shang, Zheng-Jun

    2016-01-01

    EphA2 is associated with tumor growth and distant metastasis in numerous human tumors. Considering the controversial effects of EphA2 in different tumors and the lack of reports in salivary adenoid cystic carcinoma (SACC), we evaluated the effects of EphA2 inhibition by short hairpin RNA on SACC through in vivo and in vitro researches for the first time. Real-time reverse transcriptase-PCR and western blot analysis were conducted to verify the interference effect on SACC cells. Using Cell Counting Kit-8, wound healing, Transwell and Matrigel adhesion assays, we confirm that inhibition of EphA2 promotes the migration, invasion and adhesion ability of SACC cells. In vivo research, we prove that silencing of EphA2 significantly accelerates tumor growth and lung metastasis ability by establishing xenograft models in mice, including subcutaneous inoculation and tail vein injection. In addition, immunostaining of EphA2, E-cadherin and Slug from 40 specimens and in vitro simulation of perineural invasion (PNI) assay imply that suppression of EphA2 partially contribute to epithelial-mesenchymal transition and enhancement of PNI in SACC. In conclusion, all the data suggest that EphA2 may act as a tumor suppressor in SACC progression. PMID:27186278

  17. EphA2 silencing promotes growth, migration, and metastasis in salivary adenoid cystic carcinoma: in vitro and in vivo study.

    PubMed

    Wang, Meng; Zhao, Xiao-Ping; Xu, Zhi; Yan, Ting-Lin; Song, Yong; Song, Kai; Huang, Chun-Ming; Wang, Lin; Zhou, Xiao-Cheng; Jiang, Er-Hui; Shao, Zhe; Shang, Zheng-Jun

    2016-01-01

    EphA2 is associated with tumor growth and distant metastasis in numerous human tumors. Considering the controversial effects of EphA2 in different tumors and the lack of reports in salivary adenoid cystic carcinoma (SACC), we evaluated the effects of EphA2 inhibition by short hairpin RNA on SACC through in vivo and in vitro researches for the first time. Real-time reverse transcriptase-PCR and western blot analysis were conducted to verify the interference effect on SACC cells. Using Cell Counting Kit-8, wound healing, Transwell and Matrigel adhesion assays, we confirm that inhibition of EphA2 promotes the migration, invasion and adhesion ability of SACC cells. In vivo research, we prove that silencing of EphA2 significantly accelerates tumor growth and lung metastasis ability by establishing xenograft models in mice, including subcutaneous inoculation and tail vein injection. In addition, immunostaining of EphA2, E-cadherin and Slug from 40 specimens and in vitro simulation of perineural invasion (PNI) assay imply that suppression of EphA2 partially contribute to epithelial-mesenchymal transition and enhancement of PNI in SACC. In conclusion, all the data suggest that EphA2 may act as a tumor suppressor in SACC progression. PMID:27186278

  18. CLINICAL AND MICRODISSECTION GENOTYPING ANALYSES OF THE EFFECT OF INTRA-ARTERIAL CYTOREDUCTIVE CHEMOTHERAPY IN THE TREATMENT OF LACRIMAL GLAND ADENOID CYSTIC CARCINOMA

    PubMed Central

    Tse, David T

    2005-01-01

    Purpose To determine the effect of intra-arterial cytoreductive chemotherapy (IACC) as an adjunct of a multimodality protocol for the treatment of lacrimal gland adenoid cystic carcinoma (ACC). Methods This was a retrospective, comparative, consecutive case series. Nine consecutive patients with lacrimal gland ACC were treated with IACC, followed by orbital exenteration and chemoradiotherapy. This case series was compared with a series of seven patients treated by conventional local therapies. Clinical records, imaging studies, histologic sections, and archival specimens from all 16 patients were reviewed. Information analyzed included site of disease, histologic characteristics, extent of disease, local-regional recurrence or distant metastases, and disease-free survival time. Gene analysis was performed on microdissected tissue samples. Mutational allelotyping targeting nine genomic loci using 15 polymorphic microsatellite markers situated in proximity to known tumor suppressor genes serve as markers for the presence of gene deletion. The effect of IACC was assessed by the radiographic response and survival outcome in comparison to a historical cohort of patients managed by conventional local therapies. A fractional mutation index was used to compare the acquired mutational load between different tumors having nonidentical patterns of microsatellite informativeness. Results The carcinoma cause-specific death rates between the two treatment groups was significant (P = .029, log-rank test). The cumulative 5-year carcinoma cause-specific death rate was 16.7% in the IACC-treated group compared with 57.1% in the conventional treatment group. 1p36 was the single most common site affected by allelic loss for microsatellite markers in this series. Conclusions The preliminary data suggest that IACC as an integral component of a multimodal treatment strategy is potentially effective in improving local disease control and overall disease-free survival in lacrimal gland ACC

  19. The unique luminal staining pattern of cytokeratin 5/6 in adenoid cystic carcinoma of the breast may aid in differentiating it from its mimickers.

    PubMed

    Nakai, Tokiko; Ichihara, Shu; Kada, Akiko; Ito, Noriko; Moritani, Suzuko; Kawasaki, Tomonori; Uchiyama, Tomoko; Itami, Hiroe; Morita, Kouhei; Takano, Masato; Takeda, Maiko; Hatakeyama, Kinta; Ohbayashi, Chiho

    2016-08-01

    Adenoid cystic carcinoma (AdCC) of the breast is an uncommon but distinct neoplasm composed of a dual cell population polarized around true glandular (luminal) spaces and pseudolumina. The aim of this study was to clarify whether various immunohistochemical markers (CK7, EMA, CD117, p63, calponin, CD10, S100, CK5/6, CK14, vimentin, and type IV collagen) can distinguish between the two cell types in classical AdCC (n = 14) and in collagenous spherulosis (n = 5). The sensitivity and specificity of these 11 markers to distinguish luminal from abluminal cells were evaluated using a curve created by plotting the true-positive rate (sensitivity) against the false-positive rate (1 - specificity) at threshold settings of 0, 10, 50, and 70 %. The most sensitive and specific markers for luminal cells in AdCC were CK7 and EMA; those for abluminal cells were type IV collagen, p63, and vimentin. CD10 and S100 did not act as abluminal markers in AdCC. CK5/6, one of the basal/myoepithelial markers, was expressed more frequently in luminal than in abluminal cells of AdCC. Thus, CK5/6 immunostaining resulted in a reverse expression pattern, analogous to what we recently documented in clear cells in mammary adenomyoepithelioma. In conclusion, compared with myoepithelial/abluminal cells of normal breast or collagenous spherulosis, the neoplastic abluminal cells of classical AdCC are characterized by enhanced vimentin and attenuated CD10 and S100. Furthermore, the luminal cells of AdCC show a unique aberrant staining pattern for CK5/6 that may aid in the differential diagnosis. PMID:27240462

  20. Successful treatment of c-kit-positive metastatic Adenoid Cystic Carcinoma (ACC) with a combination of curcumin plus imatinib: A case report.

    PubMed

    Demiray, M; Sahinbas, H; Atahan, S; Demiray, H; Selcuk, D; Yildirim, I; Atayoglu, A T

    2016-08-01

    Adenoid cystic carcinoma (ACC) is an aggressive malignant neoplasm of the secretory glands. Conventional chemotherapy has poor effectiveness against metastatic ACC. Thus, a novel effective therapy is needed against metastatic ACC. A majority of ACCs (up to 94%) express c-kit. Imatinib is monoclonal antibody with specific activity against c-kit but has not been found to be effective in treating patients with ACC in which c-kit is overexpressed and activated. The NF-κB and mTOR pathways have been shown that ubiquitously and concurrently activated, indicating that the inhibition of these pathways may represent a novel treatment approach for patients with ACC. Curcumin has been shown to inhibit NF-κB and NF-κB-related pathways. 43-year-old patient was diagnosed ACC from submandibular salivary gland. After complete resection of tumor adjuvant radiotherapy was initiated. Seven years later multiple lung metastases were detected and ACC was confirmed by re-biopsy. First-line chemotherapy failed. NF-κB and c-kit were overexpressed in the metastatic specimens. Therefore, we treated the patient with metastatic chemoresistant ACC with imatinib 400mg/day and intravenous curcumin 225mg/m(2) twice a week plus oral bioavailable curcumin Arantal(®) 2×84mg/day. At 24 months, we observed near complete anatomic and complete metabolic response. To our knowledge, this is the first report of a patient with a c-kit-positive ACC that is successfully treated with the combination of imatinib and curcumin in an integrative approach. PMID:27515884

  1. miR-21 regulates tumor progression through the miR-21-PDCD4-Stat3 pathway in human salivary adenoid cystic carcinoma.

    PubMed

    Jiang, Lie-Hao; Ge, Ming-Hua; Hou, Xiu-Xiu; Cao, Jun; Hu, Si-Si; Lu, Xiao-Xiao; Han, Jing; Wu, Yi-Chen; Liu, Xiang; Zhu, Xin; Hong, Lian-Lian; Li, Pei; Ling, Zhi-Qiang

    2015-12-01

    miR-21, which is a putative tumor onco-miR and frequently overexpressed microRNA in various tumors, has been linked to tumor progression through targeting of tumor-suppressor genes. In this study, we sought to determine whether miR-21 has any role on tumor progression of salivary adenoid cystic carcinoma (SACC) and the possible mechanisms. We found that the level of miR-21 expression was significantly higher in SACC than that in normal salivary tissues, and it is also higher in tumors with metastasis than that without metastasis. Using an anti-miR-21 inhibitor in an in vitro model, downregulation of miR-21 significantly decreased the capacity of invasion and migration of SACC cells, whereas a pre-miR-21 increased the capacity of invasion and migration of SACC cells. To explore the potential mechanisms by which miR-21 regulate invasion and migration, we identified one direct miR-21 target gene, programmed cell death 4 (PDCD4), which has been implicated in invasion and metastasis. The suppression of miR-21 in metastatic SACC-LM cells significantly increased the report activity of PDCD4 promoter and the expression of PDCD4 protein. This subsequently resulted in downregulation of the p-STAT3 protein. The level of miR-21 expression positively related to the expression of PDCD4 protein and negatively related to the expression of p-STAT3 protein in SACC specimens, respectively, indicating the potential role of the STAT3-miR-21-PDCD4 pathway in these tumors. Dysregulation of miR-21 has an important role in tumor growth and invasion by targeting PDCD4. Therefore, suppression of miR-21 may provide a potential approach for the treatment of advanced SACC patients. PMID:26367487

  2. Schwann cells promote EMT and the Schwann-like differentiation of salivary adenoid cystic carcinoma cells via the BDNF/TrkB axis.

    PubMed

    Shan, Chun; Wei, Jianhua; Hou, Rui; Wu, Baolei; Yang, Zihui; Wang, Lei; Lei, Delin; Yang, Xinjie

    2016-01-01

    Perineural invasion (PNI) is a striking biological behavior observed in salivary adenoid cystic carcinoma (SACC). The present study was designed to establish a co-culture model of SACC cells with Schwann cells (SCs), and then study epithelial-mesenchymal transition (EMT) and the Schwann-like differentiation of SACC cells to investigate the likely molecular mechanism of PNI. The co-culture models of SCs with tumor cells (SACC-83, SACC-LM and MEC-1) were established using a Transwell system. An elevated concentration of brain-derived neurotrophic factor (BDNF) was detected by ELISA assay in the co-cultured medium of the SACC-83 group and SACC-LM group rather than the MEC-1 group. The EMT process and Schwann-like differentiation in SACC-83 cells were analyzed by RT-PCR, western blotting, immunofluorescence, photography, and migration and perineural invasion assays. The SACC-83 cells under the co-culture condition with SCs changed to a mesenchymal morphology and had higher migration and invasion capabilities compared with the solely cultured SACC-83 cells, accompanied by the downregulation of E-cadherin and upregulation of N-cadherin and vimentin. The co-cultured SACC-83 cells also developed Schwann-like differentiation with increased expression of SC markers, S100A4 and GFAP. However, inhibition of tropomyosin-related kinase B (TrkB) by K252a markedly blocked these effects. Additionally, the expression and correlation of TrkB, E-cadherin and S100A4 were analyzed by immunohistochemistry in 187 primary SACC cases. The levels of TrkB and S100A4 expression were both positively associated with PNI in the SACC cases, while E-cadherin expression was negatively associated with PNI. Elevated expression of TrkB was significantly correlated with the downregulated expression of E-cadherin and the upregulated expression of S100A4 in the SACC cases. Our results suggest that SCs play a pivotal role in the PNI process by inducing the EMT process and the Schwann-like differentiation

  3. All about Adenoids

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes All About Adenoids KidsHealth > For Kids > All About Adenoids Print A A A Text Size ... of Use Visit the Nemours Web site. Note: All information on KidsHealth® is for educational purposes only. ...

  4. Enlarged Adenoids (For Parents)

    MedlinePlus

    ... Are Reading Upsetting News Reports? What to Say Vaccines: Which Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & Pregnancy Enlarged Adenoids KidsHealth > ...

  5. Tonsils and Adenoids

    MedlinePlus

    ... infections of the nose and throat, and significant enlargement that causes nasal obstruction and/or breathing, swallowing, ... disturbed. Other signs of adenoid and or tonsil enlargement are: •Breathing through the mouth instead of the ...

  6. Breast- and salivary gland-derived adenoid cystic carcinomas: potential post-transcriptional divergencies. A pilot study based on miRNA expression profiling of four cases and review of the potential relevance of the findings.

    PubMed

    Kiss, Orsolya; Tőkés, Anna-Mária; Spisák, Sándor; Szilágyi, Anna; Lippai, Norbert; Székely, Borbála; Szász, A Marcell; Kulka, Janina

    2015-01-01

    Adenoid cystic carcinoma (ACC) is a malignant tumor of the salivary glands but identical tumors can also arise from the breast. Despite their similar histomorphological appearance the salivary gland- and the breast-derived forms differ in their clinical features: while ACC of the salivary glands (sACC) have an aggressive clinical course, the breast-derived form (bACC) shows a very favourable clinical outcome. To date no exact molecular alterations have yet been identified which would explain the diverse clinical features of the ACCs of different origin. In our pilot experiment we investigated the post-transcriptional features of ACC cases by performing microRNA-profiling on 2-2 bACC and sACC tissues and on 1-1 normal breast and salivary gland tissue. By comparing the microRNA-profiles of the investigated samples we identified microRNAs which were expressed differently in bACC and sACC cases according to their normal controls: 7 microRNAs were overexpressed in sACC cases and downexpressed in bACC tumors (let-7b, let-7c, miR-17, miR-20a, miR-24, miR-195, miR-768-3) while 9 microRNAs were downexpressed in sACC cases and overexpressed in bACC tissues (let-7e, miR-23b, miR-27b, miR-193b, miR-320a, miR-320c, miR-768-5p, miR-1280 and miR-1826) relative to their controls. We also identified 8 microRNAs which were only expressed in sACCs and one microRNA (miR-1234) which was only absent in sACC cases. By target predictor online databases potential targets of the these microRNAs were detected to identify genes that may play central role in the diverse clinical outcome of bACC and sACC cases. PMID:25240490

  7. Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers.

    PubMed

    Hou, Yuning; Guan, Xiaoqing; Yang, Zhe; Li, Chunying

    2016-03-15

    Cystic fibrosis transmembrane conductance regulator (CFTR), a glycoprotein with 1480 amino acids, has been well established as a chloride channel mainly expressed in the epithelial cells of various tissues and organs such as lungs, sweat glands, gastrointestinal system, and reproductive organs. Although defective CFTR leads to cystic fibrosis, a common genetic disorder in the Caucasian population, there is accumulating evidence that suggests a novel role of CFTR in various cancers, especially in gastroenterological cancers, such as pancreatic cancer and colon cancer. In this review, we summarize the emerging findings that link CFTR with various cancers, with focus on the association between CFTR defects and gastrointestinal cancers as well as the underlying mechanisms. Further study of CFTR in cancer biology may help pave a new way for the diagnosis and treatment of gastrointestinal cancers. PMID:26989463

  8. Human Papillomavirus and Cystic Node Metastasis in Oropharyngeal Cancer and Cancer of Unknown Primary Origin

    PubMed Central

    Yasui, Toshimichi; Morii, Eiichi; Yamamoto, Yoshifumi; Yoshii, Tadashi; Takenaka, Yukinori; Nakahara, Susumu; Todo, Takeshi; Inohara, Hidenori

    2014-01-01

    The clinical significance of human papillomavirus (HPV) in neck node metastasis from cancer of unknown primary (CUP) is not well established. We aimed to address the relationship of HPV status between node metastasis and the primary tumor, and also the relevance of HPV status regarding radiographically detected cystic node metastasis in head and neck squamous cell carcinoma (HNSCC) and CUP. HPV DNA was examined in 68 matched pairs of node metastasis and primary tumor, and in node metastasis from 27 CUPs. In surgically treated CUPs, p16 was examined immunohistochemically. When tonsillectomy proved occult tonsillar cancer in CUP, HPV DNA and p16 were also examined in the occult primary. Cystic node metastasis on contrast-enhanced computed tomography scans was correlated with the primary site and HPV status in another series of 255 HNSCCs and CUPs with known HPV status. Node metastasis was HPV-positive in 19/37 (51%) oropharyngeal SCCs (OPSCCs) and 10/27 (37%) CUPs, but not in non-OPSCCs. Fluid was collected from cystic node metastasis using fine needle aspiration in two OPSCCs and one CUP, and all fluid collections were HPV-positive. HPV status, including the presence of HPV DNA, genotype, and physical status, as well as the expression pattern of p16 were consistent between node metastasis and primary or occult primary tumor. Occult tonsillar cancer was found more frequently in p16-positive CUP than in p16-negative CUP (odds ratio (OR), 39.0; 95% confidence interval (CI), 1.4–377.8; P = 0.02). Radiographically, cystic node metastasis was specific to OPSCC and CUP, and was associated with HPV positivity relative to necrotic or solid node metastasis (OR, 6.2; 95% CI, 1.2–45.7; P = 0.03). In conclusion, HPV status remains unchanged after metastasis. The occult primary of HPV-positive CUP is most probably localized in the oropharynx. HPV status determined from fine needle aspirates facilitates the diagnosis of cystic node metastasis. PMID:24752007

  9. Correlation between adenoidal nasopharyngeal ratio and symptoms of enlarged adenoids in children with adenoidal hypertrophy

    PubMed Central

    Adedeji, Taiwo Olugbemiga; Amusa, Yemisi B.; Aremu, Ademola A.

    2016-01-01

    Background: Adenoid hypertrophy is one of the most common health problems affecting the paediatric population. This study aims to correlate adenoidal nasopharyngeal ratio (ANR) with symptoms of enlarged adenoids in children with enlarged adenoids. Materials and Methods: It was a year, cross-sectional, hospital-based study conducted at Lautech Teaching Hospital, Osogbo. ANR was determined by dividing adenoidal depth with nasopharyngeal depth on the plain lateral radiographs. Results: A total of 90 consecutive children consisting of 61 males and 29 females were included in the study with M:F ratio of 2.1:1. Their ages ranged from 8 months to 11 years. All the patients presented with nasal obstruction, mouth breathing and noisy breathing. Majority (64.5%) had severe obstructions with preponderance among children of 3-5 years (39.9%). Linear regression analysis showed significant association between age and ANR (t = 10.447, P < 0.001). There was high significant association (P < 0.05) between presenting symptoms and degree of nasopharyngeal airway obstruction; for snoring (r = 0.251, P = 0.000), sleep apnoea (r = 0.594, P = 0.000), nasal discharge (r = 0.314, P = 0.001), excessive daytime sleepiness (r = 0.219, P = 0.019) and failure to thrive (r = 0.240, P = 0.011). Conclusion: Lateral X-ray of the nasopharynx is an effective tool to evaluate children with suspected adenoid hypertrophy. It correlates well with patients’ symptoms and provides objective measures of adenoid hypertrophy. PMID:27251518

  10. Cystic Fibrosis

    MedlinePlus

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

  11. Adenoid Stones – “Adenoliths”

    PubMed Central

    Sakano, Hitomi; Thaker, Ameet I.; Davis, Greg E.

    2015-01-01

    Stones made of bacterial aggregates can be found in chronically inflamed lymphoid tissue such as hypertrophied tonsils. Although it is common to find tonsilloliths in cryptic tonsils, it is rare to find stones in adenoid tissue. Here we present an interesting case of a patient who underwent adenoidectomy for adenoid hypertrophy, recurrent malaise and upper respiratory infections. Intraoperatively we found numerous bright green stones in the crypts of the adenoid tissue, reminiscent of tonsilloliths in tonsillar crypts. Pathology revealed polymicrobial bacterial aggregates surrounded by neutrophils. Our findings suggest that the pathophysiology is similar to that of tonsillolith formation. Thus, we should at least consider the presence of adenoid stones and consider adenoidectomy for symptoms often attributed to tonsilloliths. We have coined the term “adenoliths” to describe this interesting finding and present it as a potential source of recurrent infection. PMID:26798664

  12. Acetylcysteine Rinse in Reducing Saliva Thickness and Mucositis in Patients With Head and Neck Cancer Undergoing Radiation Therapy

    ClinicalTrials.gov

    2016-02-04

    Mucositis; Oral Complications; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage I Adenoid Cystic Carcinoma of the Oral Cavity; Stage I Basal Cell Carcinoma of the Lip; Stage I Lymphoepithelioma of the Nasopharynx; Stage I Lymphoepithelioma of the Oropharynx; Stage I Mucoepidermoid Carcinoma of the Oral Cavity; Stage I Salivary Gland Cancer; Stage I Squamous Cell Carcinoma of the Larynx; Stage I Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage I Squamous Cell Carcinoma of the Nasopharynx; Stage I Squamous Cell Carcinoma of the Oropharynx; Stage I Verrucous Carcinoma of the Larynx; Stage I Verrucous Carcinoma of the Oral Cavity; Stage II Adenoid Cystic Carcinoma of the Oral Cavity; Stage II Basal Cell Carcinoma of the Lip; Stage II Lymphoepithelioma of the Nasopharynx; Stage II Lymphoepithelioma of the Oropharynx; Stage II Mucoepidermoid Carcinoma of the Oral Cavity; Stage II Salivary Gland Cancer; Stage II Squamous Cell Carcinoma of the Larynx; Stage II Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage II Squamous Cell Carcinoma of the Nasopharynx; Stage II Squamous Cell Carcinoma of the Oropharynx; Stage II Verrucous Carcinoma of the Larynx; Stage II Verrucous Carcinoma of the Oral Cavity; Stage III Adenoid Cystic Carcinoma of the Oral Cavity; Stage III Basal Cell Carcinoma of the Lip; Stage III Lymphoepithelioma of the Nasopharynx; Stage III Lymphoepithelioma of the Oropharynx; Stage III Mucoepidermoid

  13. Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation and Lung Cancer Risk

    PubMed Central

    Li, Yafei; Sun, Zhifu; Wu, Yanhong; Babovic-Vuksanovic, Dusica; Li, Yan; Cunningham, Julie M.; Pankratz, Vernon S.; Yang, Ping

    2010-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) holds an important role in retaining lung function, but its association with lung cancer is unclear. A case-control study was conducted to determine the possible associations of the genetic variants in the CFTR gene with lung cancer risk. Genotypes of a most common deletion ΔF508, one functional SNP, and eight tag SNPs in the CFTR gene were determined in 574 lung cancer patients and 679 controls. A logistic regression model, adjusting for known risk factors, was used to evaluate the association of each variant with lung cancer risk, as confirmation haplotype and sub-haplotype analyses were performed. ΔF508 deletion and genotypes with minor alleles in one tag SNP, rs10487372, and one functional SNP, rs213950, were inversely associated with lung cancer risk. The results of haplotype and sub-haplotype analyses were consistent with single variant analysis, all pointing to deletion ΔF508 being the key variant for significant haplotypes and sub-haplotypes. Individuals with ‘deletion-T’ (ΔF508/rs10487372) haplotype had a 68% reduced risk for lung cancer compared to common haplotype ‘no-deletion-C’ (OR=0.32; 95% CI=0.15–0.68; p=0.01). Genetic variations in the CFTR gene might modulate the risk of lung cancer. This study, for the first time, provides evidence of a protective role of the CFTR deletion carrier in the etiology of lung cancer. PMID:20116881

  14. A Case of Axillary Adenoid Basal Cell Carcinoma

    PubMed Central

    Kim, Soo Ho; Ko, Woo Tae; Lee, Jong Im

    2008-01-01

    Basal cell carcinoma (BCC) is the most common skin cancer with a steadily increasing incidence. Ultraviolet radiation is considered the single most important risk factor for BCC, because the tumor occurs most frequently in sun-exposed areas of the body, with approximately four of five BCCs occurring on the face. BCC occurs infrequently in non-sun-exposed skin. The axilla is one of the most sun-protected areas of the body, and BCC arising at this site is very rare. We herein report a case of adenoid BCC which arose from the axilla in a 33-year-old woman. PMID:27303153

  15. Interleukin-12 and Trastuzumab in Treating Patients With Cancer That Has High Levels of HER2/Neu

    ClinicalTrials.gov

    2013-02-27

    Advanced Adult Primary Liver Cancer; Anaplastic Thyroid Cancer; Bone Metastases; Carcinoma of the Appendix; Distal Urethral Cancer; Fallopian Tube Cancer; Gastrinoma; Glucagonoma; Inflammatory Breast Cancer; Insulinoma; Liver Metastases; Localized Unresectable Adult Primary Liver Cancer; Lung Metastases; Male Breast Cancer; Malignant Pericardial Effusion; Malignant Pleural Effusion; Metastatic Gastrointestinal Carcinoid Tumor; Metastatic Parathyroid Cancer; Metastatic Transitional Cell Cancer of the Renal Pelvis and Ureter; Newly Diagnosed Carcinoma of Unknown Primary; Occult Non-small Cell Lung Cancer; Pancreatic Polypeptide Tumor; Primary Peritoneal Cavity Cancer; Proximal Urethral Cancer; Pulmonary Carcinoid Tumor; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Adrenocortical Carcinoma; Recurrent Adult Primary Liver Cancer; Recurrent Anal Cancer; Recurrent Bladder Cancer; Recurrent Breast Cancer; Recurrent Carcinoma of Unknown Primary; Recurrent Cervical Cancer; Recurrent Colon Cancer; Recurrent Endometrial Carcinoma; Recurrent Esophageal Cancer; Recurrent Extrahepatic Bile Duct Cancer; Recurrent Gallbladder Cancer; Recurrent Gastric Cancer; Recurrent Gastrointestinal Carcinoid Tumor; Recurrent Islet Cell Carcinoma; Recurrent Malignant Testicular Germ Cell Tumor; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Non-small Cell Lung Cancer; Recurrent Ovarian Epithelial Cancer; Recurrent Pancreatic Cancer; Recurrent Parathyroid Cancer; Recurrent Prostate Cancer; Recurrent Rectal Cancer; Recurrent Renal Cell Cancer; Recurrent Salivary Gland Cancer; Recurrent Small Intestine Cancer; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Thyroid Cancer; Recurrent Transitional Cell Cancer of the Renal Pelvis and Ureter; Recurrent Urethral Cancer; Recurrent Vaginal

  16. Proteomic Mucin Profiling for the Identification of Cystic Precursors of Pancreatic Cancer

    PubMed Central

    2014-01-01

    Background Pancreatic cystic lesions (PCLs) are increasingly frequent radiological incidentalomas, with a considerable proportion representing precursors of pancreatic cancer. Better diagnostic tools are required for patients to benefit from this development. Methods To evaluate whether cyst fluid mucin expression could predict malignant potential and/or transformation in PCLs, a proteomic method was devised and prospectively evaluated in consecutive patients referred to our tertiary center for endoscopic ultrasound-guided aspiration of cystic lesions from May 2007 through November 2008 (discovery cohort) and from December 2008 through October 2012 (validation cohort). Cytology and cyst fluid carcinoembryonic antigen (CEA; premalignancy > 192ng/mL, malignancy > 1000ng/mL) were routinely analyzed, and samples were further processed as follows: one-dimensional gel electrophoresis, excision of high-mass areas, tryptic digestion and nano-liquid chromatography–tandem mass spectrometry, with peptide identification by Mascot software and an in-house mucin database. All diagnostic evaluations were blinded to proteomics results. Histology was required to confirm the presence/absence of malignant transformation. All statistical tests were two-sided. Results Proteomic mucin profiling proved statistically significantly more accurate (97.5%; 95% confidence interval [CI] = 90.3% to 99.6%) than cytology (71.4%; 95% CI = 59.8% to 80.9%; P < .001) and cyst fluid CEA (78.0%; 95% CI = 65.0% to 87.3%; P < .001) in identifying the 37 (out of 79; 46.8%) lesions with malignant potential (ie, premalignant or malignant tumors). The accuracy of proteomics was nearly identical (96.6% vs 98.0%) between the discovery (n = 29) and validation (n = 50) cohorts. Furthermore, mucin profiling predicted malignant transformation, present in 16 out of 29 (discovery cohort: 9, validation cohort: 20) lesions with available histology, with 89.7% accuracy (95% CI = 71.5% to 97.3%) (for the validation

  17. Phototherapy of adenoid disease in children

    NASA Astrophysics Data System (ADS)

    Naumov, Sergey A.; Chankov, Ivan I.; Volovodenko, Alexey V.; Khlusov, Igor A.; Vovk, Sergey M.; Tuchin, Valery V.

    2004-08-01

    The results presented testify to the high clinical effectiveness of therapy of adenoid disease based on photodynamic effects caused by combined action of physical (red light) and chemical factors (methylene blue) on pathogenic microorganisms. Original physiotherapy device and autonomous photostimulator of "Duny" Inc. were used. Clinical results have a good correlation with results of bacteriological and cell research conducted in vivo and in vitro.

  18. [Prophylaxis of chronic adenoiditis in the children].

    PubMed

    Karpova, E P; Karpycheva, I E; Tulupov, D A

    2015-01-01

    This study was undertaken with the purpose of improving the effectiveness of the preventive treatment of chronic adenoiditis in the children. The open randomized comparative study included 219 children aged from 6 to 7 years presenting with clinical and anamnestic signs of chronic adenoiditis. The study group was comprised of 113 patients given the Streptococcus salivarius K12-based probiotic complex during 30 days in combination with the nasal-douche. The control group consisted of 106 patients treated with the nasal douche alone. The analysis of the results of the study has demonstrated that episodes of exacerbation of adenoiditis on day 30 after the onset of the treatment occurred in 56 (49.6%) children of the study group compared with 95 (88.7%) patients of the control group. Three months later, acute sinusitis was diagnosed in 4 (3.5%) children of the study group compared with 14 (13.2%) ones in the control group. Acute otitis media was documented in 2 (1.8%) and 5 (4.7%) children of the study and control groups respectively. It is concluded that the treatment with the use of the Streptococcus salivarius K12-based probiotic complex permits to decrease the frequency of exacerbations of chronic adenoiditis and its complications in the children and reduces the requirement for medication therapy. PMID:26978751

  19. The pathology of unusual subtypes of prostate cancer

    PubMed Central

    Li, Jing

    2016-01-01

    There are some current literatures describing the morphologic change of prostate carcinoma variants. Some subtypes do not respond to hormone deprivation therapy, for example adenosquamous and squamous cell carcinoma (SQCC), basaloid and adenoid cystic carcinoma (ACC), small cell carcinoma (SmCC), sarcomatoid carcinoma, urothelial carcinoma; some are defined in special Gleason grade, some develop different prognosis. So, it is very important to identify these rare subtypes to avoid misdiagnosis. In this review, we aim to describe the typical clinicopathological features of the rare variants of prostate cancer, including prostate acinar adenocarcinoma morphologic variants. PMID:27041935

  20. Articulation error of children with adenoid hypertrophy

    PubMed Central

    Eom, Tae-Hoon; Jang, Eun-Sil; Chung, Seung-Yun; Lee, In-Goo

    2014-01-01

    Purpose Adenoid hypertrophy is a physical alteration that may affect speech, and a speech disorder can have other negative effects on a child's life. Airway obstruction leads to constricted oral breathing and causes postural alterations of several oro-facial structures, including the mouth, tongue, and hyoid bone. The postural modifications may affect several aspects of speech production. Methods In this study, we compared articulation errors in 19 children with adenoid hypertrophy (subject group) to those of 33 children with functional articulation disorders independent of anatomical problems (control group). Results The mean age of the subject group was significantly higher (P=0.016). Substitution was more frequent in the subject group (P=0.003; odds ratio [OR], 1.80; 95% confidence interval [CI], 1.23-2.62), while omission was less frequent (P<0.001; OR, 0.43; 95% CI, 0.27-0.67). Articulation errors were significantly less frequent in the palatal affricative in the subject group (P=0.047; OR, 0.25; 95% CI, 0.07-0.92). The number of articulation errors in other consonants was not different between the two groups. Nasalization and aspiration were significantly more frequent in the subject group (P=0.007 and 0.014; OR, 14.77 and 0.014; 95% CI, [1.62-135.04] and NA, respectively). Otherwise, there were no differences between the two groups. Conclusion We identified the characteristics of articulation errors in children with adenoid hypertrophy, but our data did not show the relationship between adenoid hypertrophy and oral motor function that has been observed in previous studies. The association between adenoid hypertrophy and oral motor function remains doubtful. PMID:25114693

  1. Genetic alterations in salivary gland cancers.

    PubMed

    Yin, Linda X; Ha, Patrick K

    2016-06-15

    Salivary gland cancers are an incredibly heterogeneous group of tumors that include 24 histologically distinct tumor types. The use of new genetic methods has paved the way for promising advancements in our understanding of the molecular biology underlying each type of tumor. The objective of this review was to highlight common oncogenes, tumor suppressor genes, and cytogenetic and epigenetic changes associated with the most common tumor types: mucoepidermoid carcinoma, adenoid cystic carcinoma, salivary duct carcinoma, mammary analogue secretory carcinoma, hyalinizing clear cell carcinoma, carcinoma ex pleomorphic adenoma, and acinic cell carcinoma. Recent insights into the pathogenesis of each cancer subtype have helped better define and classify these tumors. Further research in salivary gland cancers should focus on determining the key genes involved in the tumorigenesis of each distinct malignancy and identifying individualized chemotherapies directed at these targets. Cancer 2016;122:1822-31. © 2016 American Cancer Society. PMID:26928905

  2. Life-Threatening Congenital Cystic Adenomatoid Malformation in the Premature Neonate

    PubMed Central

    Chong, Yooyoung; Rhee, Youn Ju; Han, Sung Joon; Cho, Hyun Jin; Kang, Shin Kwang; Kang, Min-Woong

    2016-01-01

    Congenital cystic adenomatoid malformation is a rare, but well-known disease. It can be managed conservatively in patients without symptoms or require surgical removal when symptomatic. The surgical option of choice is en bloc resection of the affected lesion. We report an experience of life-threatening congenital cystic adenoid malformation in a low-birth-weight (1,590 g) premature neonate who was successfully treated with a lobectomy of the lung. PMID:27298802

  3. Life-Threatening Congenital Cystic Adenomatoid Malformation in the Premature Neonate.

    PubMed

    Chong, Yooyoung; Rhee, Youn Ju; Han, Sung Joon; Cho, Hyun Jin; Kang, Shin Kwang; Kang, Min-Woong

    2016-06-01

    Congenital cystic adenomatoid malformation is a rare, but well-known disease. It can be managed conservatively in patients without symptoms or require surgical removal when symptomatic. The surgical option of choice is en bloc resection of the affected lesion. We report an experience of life-threatening congenital cystic adenoid malformation in a low-birth-weight (1,590 g) premature neonate who was successfully treated with a lobectomy of the lung. PMID:27298802

  4. Gefitinib in Treating Patients With Metastatic or Unresectable Head and Neck Cancer or Non-Small Cell Lung Cancer

    ClinicalTrials.gov

    2013-01-11

    Anaplastic Thyroid Cancer; Insular Thyroid Cancer; Metastatic Parathyroid Cancer; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Non-small Cell Lung Cancer; Recurrent Parathyroid Cancer; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Thyroid Cancer; Recurrent Verrucous Carcinoma of the Larynx; Stage III Follicular Thyroid Cancer; Stage III Papillary Thyroid Cancer; Stage III Salivary Gland Cancer; Stage III Squamous Cell Carcinoma of the Hypopharynx; Stage III Squamous Cell Carcinoma of the Larynx; Stage III Verrucous Carcinoma of the Larynx; Stage IIIB Non-small Cell Lung Cancer; Stage IV Lymphoepithelioma of the Nasopharynx; Stage IV Non-small Cell Lung Cancer; Stage IV Squamous Cell Carcinoma of the Hypopharynx; Stage IV Squamous Cell Carcinoma of the Nasopharynx; Stage IVA Adenoid Cystic Carcinoma of the Oral Cavity; Stage IVA Basal Cell Carcinoma of the Lip; Stage IVA Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Stage IVA Follicular Thyroid Cancer; Stage IVA Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Stage IVA Lymphoepithelioma of the Oropharynx; Stage IVA Midline Lethal Granuloma of the Paranasal Sinus

  5. 18F FPPRGD2 PET/CT or PET/MRI in Predicting Early Response in Patients With Cancer Receiving Anti-Angiogenesis Therapy

    ClinicalTrials.gov

    2015-11-16

    Adult Giant Cell Glioblastoma; Adult Glioblastoma; Adult Gliosarcoma; Male Breast Cancer; Metastatic Squamous Neck Cancer With Occult Primary Squamous Cell Carcinoma; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Adult Brain Tumor; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Breast Cancer; Recurrent Colon Cancer; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Hypopharyngeal Cancer; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Laryngeal Cancer; Recurrent Lip and Oral Cavity Cancer; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Nasopharyngeal Cancer; Recurrent Non-small Cell Lung Cancer; Recurrent Oropharyngeal Cancer; Recurrent Pancreatic Cancer; Recurrent Paranasal Sinus and Nasal Cavity Cancer; Recurrent Rectal Cancer; Recurrent Renal Cell Cancer; Recurrent Salivary Gland Cancer; Stage IIIA Breast Cancer; Stage IIIA Non-small Cell Lung Cancer; Stage IIIB Breast Cancer; Stage IIIB Non-small Cell Lung Cancer; Stage IIIC Breast Cancer; Stage IV Breast Cancer; Stage IV Non-small Cell Lung Cancer; Stage IV Pancreatic Cancer; Stage IV Renal Cell Cancer; Stage IVA Colon Cancer; Stage IVA Rectal Cancer; Stage IVA Salivary Gland Cancer; Stage IVB Colon Cancer; Stage IVB Salivary Gland Cancer; Stage IVC Salivary Gland Cancer; Tongue Cancer; Unspecified Adult Solid Tumor, Protocol Specific

  6. Erlotinib Hydrochloride and Cetuximab in Treating Patients With Advanced Gastrointestinal Cancer, Head and Neck Cancer, Non-Small Cell Lung Cancer, or Colorectal Cancer

    ClinicalTrials.gov

    2015-09-28

    Adenocarcinoma of the Colon; Adenocarcinoma of the Rectum; Advanced Adult Primary Liver Cancer; Carcinoma of the Appendix; Gastrointestinal Stromal Tumor; Metastatic Gastrointestinal Carcinoid Tumor; Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Adult Primary Liver Cancer; Recurrent Anal Cancer; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Colon Cancer; Recurrent Esophageal Cancer; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Extrahepatic Bile Duct Cancer; Recurrent Gallbladder Cancer; Recurrent Gastric Cancer; Recurrent Gastrointestinal Carcinoid Tumor; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Non-small Cell Lung Cancer; Recurrent Pancreatic Cancer; Recurrent Rectal Cancer; Recurrent Salivary Gland Cancer; Recurrent Small Intestine Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Small Intestine Adenocarcinoma; Small Intestine Leiomyosarcoma; Small Intestine Lymphoma; Stage IV Adenoid Cystic Carcinoma of the Oral Cavity; Stage IV Anal Cancer; Stage IV Basal Cell Carcinoma of the Lip; Stage IV Colon Cancer; Stage IV Esophageal Cancer; Stage IV Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Stage IV Gastric Cancer

  7. Cystic Fibrosis

    MedlinePlus

    ... for the Public » Health Topics » Cystic Fibrosis Explore Cystic Fibrosis What Is... Other Names Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Living With Clinical Trials Links Related Topics Bronchiectasis ...

  8. Cystic fibrosis

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000107.htm Cystic fibrosis To use the sharing features on this page, please enable JavaScript. Cystic fibrosis is a disease that causes thick, sticky mucus ...

  9. Transcriptome Meta-Analysis of Lung Cancer Reveals Recurrent Aberrations in NRG1 and Hippo Pathway Genes

    PubMed Central

    Dhanasekaran, Saravana M.; Balbin, O. Alejandro; Chen, Guoan; Nadal, Ernest; Kalyana-Sundaram, Shanker; Pan, Jincheng; Veeneman, Brendan; Cao, Xuhong; Malik, Rohit; Vats, Pankaj; Wang, Rui; Huang, Stephanie; Zhong, Jinjie; Jing, Xiaojun; Iyer, Matthew; Wu, Yi-Mi; Harms, Paul W.; Lin, Jules; Reddy, Rishindra; Brennan, Christine; Palanisamy, Nallasivam; Chang, Andrew C.; Truini, Anna; Truini, Mauro; Robinson, Dan R.; Beer, David G.; Chinnaiyan, Arul M.

    2014-01-01

    Lung cancer is emerging as a paradigm for disease molecular subtyping, facilitating targeted therapy based on driving somatic alterations. Here, we perform transcriptome analysis of 153 samples representing lung adenocarcinomas, squamous cell carcinomas, large cell lung cancer, adenoid cystic carcinomas and cell lines. By integrating our data with The Cancer Genome Atlas and published sources, we analyze 753 lung cancer samples for gene fusions and other transcriptomic alterations. We show that higher numbers of gene fusions is an independent prognostic factor for poor survival in lung cancer. Our analysis confirms the recently reported CD74-NRG1 fusion and suggests that NRG1, NF1 and Hippo pathway fusions may play important roles in tumors without known driver mutations. In addition, we observe exon skipping events in c-MET, which are attributable to splice site mutations. These classes of genetic aberrations may play a significant role in the genesis of lung cancers lacking known driver mutations. PMID:25531467

  10. Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?

    PubMed Central

    Ristau, Benjamin T.; Kamat, Sonal N.; Tarin, Tatum V.

    2015-01-01

    The hereditary leiomyomatosis and renal cell cancer (HLRCC) association is a rare syndrome caused by mutation of the Kreb's cycle enzyme, fumarate hydratase (FH). It is characterized by unusually aggressive type 2 papillary renal cell histology. FH is responsible for catalyzing the conversion of fumarate to malate. Its absence leads to a state of “pseudohypoxia,” inducing hypoxia inducible factor 1α (HIF-1α) and leading to increased growth factor transcription (e.g., vascular endothelial growth factor, VEGF; glucose transporter 1, GLUT1). Ultimately, this results in tumorigenesis. We present a patient who was diagnosed with HLRCC and underwent bilateral nephrectomies. One of the nephrectomy specimens was notable for benign cystic lesions that stained positive immunohistochemically for succinated proteins, a finding only noted in FH-deficient cells. Thus, we posit a potential precursor lesion to type 2 papillary renal cell carcinoma in the HLRCC syndrome. PMID:26380143

  11. Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?

    PubMed

    Ristau, Benjamin T; Kamat, Sonal N; Tarin, Tatum V

    2015-01-01

    The hereditary leiomyomatosis and renal cell cancer (HLRCC) association is a rare syndrome caused by mutation of the Kreb's cycle enzyme, fumarate hydratase (FH). It is characterized by unusually aggressive type 2 papillary renal cell histology. FH is responsible for catalyzing the conversion of fumarate to malate. Its absence leads to a state of "pseudohypoxia," inducing hypoxia inducible factor 1α (HIF-1α) and leading to increased growth factor transcription (e.g., vascular endothelial growth factor, VEGF; glucose transporter 1, GLUT1). Ultimately, this results in tumorigenesis. We present a patient who was diagnosed with HLRCC and underwent bilateral nephrectomies. One of the nephrectomy specimens was notable for benign cystic lesions that stained positive immunohistochemically for succinated proteins, a finding only noted in FH-deficient cells. Thus, we posit a potential precursor lesion to type 2 papillary renal cell carcinoma in the HLRCC syndrome. PMID:26380143

  12. Perineural tumour spread from colon cancer, an unusual cause of trigeminal neuropathy - a case report

    PubMed Central

    Nair, Kavitha; George, Thomas; El Beltagi, Ahmed

    2015-01-01

    Malignant trigeminal neuralgia due to perineural spread along the branches of the trigeminal nerve, is known to commonly occur secondary to squamous cell carcinomas, lymphomas and adenoid cystic carcinomas in the head and neck region. Rarely metastases to the trigeminal nerve have been reported in breast cancer, prostate cancer and colon cancer. To the best of our knowledge trigeminal neuropathy due to skull base metastases and perineural spread along the maxillary (V2) and mandibular (V3) branches of the trigeminal nerve, secondary to colon cancer, has not been previously reported. The diagnosis in our index case was made on magnetic resonance imaging, and patient was treated accordingly by fractionated stereotactic radiotherapy, with subsequent relief of her pain. PMID:26629299

  13. Photodynamic Therapy Using HPPH in Treating Patients Undergoing Surgery for Primary or Recurrent Head and Neck Cancer

    ClinicalTrials.gov

    2015-11-30

    Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Thyroid Cancer; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage I Adenoid Cystic Carcinoma of the Oral Cavity; Stage I Basal Cell Carcinoma of the Lip; Stage I Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Stage I Follicular Thyroid Cancer; Stage I Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Stage I Lymphoepithelioma of the Nasopharynx; Stage I Lymphoepithelioma of the Oropharynx; Stage I Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Stage I Mucoepidermoid Carcinoma of the Oral Cavity; Stage I Papillary Thyroid Cancer; Stage I Salivary Gland Cancer; Stage I Squamous Cell Carcinoma of the Hypopharynx; Stage I Squamous Cell Carcinoma of the Larynx; Stage I Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage I Squamous Cell Carcinoma of the Oropharynx; Stage I Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Stage I Verrucous Carcinoma of the Larynx; Stage I Verrucous Carcinoma of the Oral Cavity; Stage II Adenoid Cystic Carcinoma of the

  14. Cystic fibrosis

    MedlinePlus

    ... or three times each week. Swimming, jogging, and cycling are good options. Clearing or bringing up mucus ... cannot be prevented. Screening those with a family history of the disease may detect the cystic fibrosis ...

  15. Driver mutations of cancer epigenomes.

    PubMed

    Roy, David M; Walsh, Logan A; Chan, Timothy A

    2014-04-01

    Epigenetic alterations are associated with all aspects of cancer, from tumor initiation to cancer progression and metastasis. It is now well understood that both losses and gains of DNA methylation as well as altered chromatin organization contribute significantly to cancer-associated phenotypes. More recently, new sequencing technologies have allowed the identification of driver mutations in epigenetic regulators, providing a mechanistic link between the cancer epigenome and genetic alterations. Oncogenic activating mutations are now known to occur in a number of epigenetic modifiers (i.e. IDH1/2, EZH2, DNMT3A), pinpointing epigenetic pathways that are involved in tumorigenesis. Similarly, investigations into the role of inactivating mutations in chromatin modifiers (i.e. KDM6A, CREBBP/EP300, SMARCB1) implicate many of these genes as tumor suppressors. Intriguingly, a number of neoplasms are defined by a plethora of mutations in epigenetic regulators, including renal, bladder, and adenoid cystic carcinomas. Particularly striking is the discovery of frequent histone H3.3 mutations in pediatric glioma, a particularly aggressive neoplasm that has long remained poorly understood. Cancer epigenetics is a relatively new, promising frontier with much potential for improving cancer outcomes. Already, therapies such as 5-azacytidine and decitabine have proven that targeting epigenetic alterations in cancer can lead to tangible benefits. Understanding how genetic alterations give rise to the cancer epigenome will offer new possibilities for developing better prognostic and therapeutic strategies. PMID:24622842

  16. Cystic fibrosis - resources

    MedlinePlus

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

  17. Bevacizumab, Fluorouracil, and Hydroxyurea Plus Radiation Therapy in Treating Patients With Advanced Head and Neck Cancer

    ClinicalTrials.gov

    2013-02-06

    Metastatic Squamous Neck Cancer With Occult Primary Squamous Cell Carcinoma; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage III Adenoid Cystic Carcinoma of the Oral Cavity; Stage III Basal Cell Carcinoma of the Lip; Stage III Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Stage III Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Stage III Lymphoepithelioma of the Nasopharynx; Stage III Lymphoepithelioma of the Oropharynx; Stage III Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Stage III Mucoepidermoid Carcinoma of the Oral Cavity; Stage III Salivary Gland Cancer; Stage III Squamous Cell Carcinoma of the Hypopharynx; Stage III Squamous Cell Carcinoma of the Larynx; Stage III Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage III Squamous Cell Carcinoma of the Nasopharynx; Stage III Squamous Cell Carcinoma of the Oropharynx; Stage III Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Stage III Verrucous Carcinoma of the Larynx; Stage III Verrucous

  18. L-lysine in Treating Oral Mucositis in Patients Undergoing Radiation Therapy With or Without Chemotherapy For Head and Neck Cancer

    ClinicalTrials.gov

    2013-05-15

    Mucositis; Oral Complications of Chemotherapy; Oral Complications of Radiation Therapy; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage I Adenoid Cystic Carcinoma of the Oral Cavity; Stage I Basal Cell Carcinoma of the Lip; Stage I Lymphoepithelioma of the Nasopharynx; Stage I Lymphoepithelioma of the Oropharynx; Stage I Mucoepidermoid Carcinoma of the Oral Cavity; Stage I Salivary Gland Cancer; Stage I Squamous Cell Carcinoma of the Hypopharynx; Stage I Squamous Cell Carcinoma of the Larynx; Stage I Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage I Squamous Cell Carcinoma of the Nasopharynx; Stage I Squamous Cell Carcinoma of the Oropharynx; Stage I Verrucous Carcinoma of the Larynx; Stage I Verrucous Carcinoma of the Oral Cavity; Stage II Adenoid Cystic Carcinoma of the Oral Cavity; Stage II Basal Cell Carcinoma of the Lip; Stage II Lymphoepithelioma of the Nasopharynx; Stage II Lymphoepithelioma of the Oropharynx; Stage II Mucoepidermoid Carcinoma of the Oral Cavity; Stage II Salivary Gland Cancer; Stage II Squamous Cell Carcinoma of the Hypopharynx; Stage II Squamous Cell Carcinoma of the Larynx; Stage II Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage II Squamous Cell Carcinoma of the Nasopharynx; Stage II Squamous Cell Carcinoma of the Oropharynx; Stage II Verrucous Carcinoma of the Larynx; Stage II Verrucous Carcinoma of the Oral Cavity; Stage

  19. Cohort study of association of risk of breast cancer with cyst type in women with gross cystic disease of the breast.

    PubMed Central

    Bruzzi, P.; Dogliotti, L.; Naldoni, C.; Bucchi, L.; Costantini, M.; Cicognani, A.; Torta, M.; Buzzi, G. F.; Angeli, A.

    1997-01-01

    OBJECTIVE: To assess correlation between type of breast cyst and risk of breast cancer in women with gross cystic disease of the breast. DESIGN: Cohort study of women with breast cysts aspirated between 1983 and 1993 who were followed up until December 1994 for occurrence of breast cancer. SETTING: Major cancer prevention centre. SUBJECTS: 802 women with aspirated breast cysts. MAIN OUTCOME MEASURES: Type of breast cyst based on cationic content of cyst fluid: type I (potassium:sodium ratio > 1.5), type II (potassium:sodium ratio < 1.5), or mixed (both types). Subsequent occurrence and type of breast cancer. RESULTS: After median follow up of six years (range 2-12 years) 15 cases of invasive breast cancer and two ductal carcinomas in situ were diagnosed in the cohort: 12 invasive cancers (and two carcinomas in situ) among the 417 women with type I cysts, two cancers among the 325 women with type II cysts, and one among the 60 women with mixed cysts. The incidence of breast cancer in women with type I cysts was significantly higher than that in women with type II cysts (relative risk 4.62 (95% confidence interval 1.26 to 29.7)). These results were confirmed after adjustment for several risk factors for breast cancer (relative risk 4.24 (1.12 to 27.5)). CONCLUSIONS: The increased risk of breast cancer of women with breast cysts seems to be concentrated among women with type I breast cysts. PMID:9099114

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

    NASA Technical Reports Server (NTRS)

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

    2002-01-01

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

  1. Adenovirus‑mediated overexpression of cystic fibrosis transmembrane conductance regulator enhances invasiveness and motility of serous ovarian cancer cells.

    PubMed

    Xu, Jiao; Lin, Liangbo; Yong, Min; Dong, Xiaojing; Yu, Tinghe; Hu, Lina

    2016-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) belongs to the adenosine triphosphate‑binding cassette transporter family, members of which are involved in several types of cancer. Previous studies by our group reported that CFTR was highly expressed in serous ovarian cancer (SOC) tissues, and that knockdown of CFTR suppressed the proliferation of ovarian cancer in vitro and in vivo. Thus, the aim of the present study was to construct a recombinant adenoviral vector for the expression of the human CFTR gene in order to study the role of CFTR overexpression in the malignant invasion and migration of SOC cells in vitro. The present study then focused on the mechanisms of the role of CFTR in the migratory and invasive malignant properties of SOC cells. The CFTR gene was inserted into an adenoviral vector by using the AdEasy system in order to obtain the Ad‑CFTR overexpression vector, which was used to transfect the A2780 SOC cell line. Reverse-transcription polymerase chain reaction, western blot analysis and immunofluorescence were performed to detect the expression and localization of CFTR. Cell invasion and motility of the transfected cells compared with those of control cells were observed using Transwell and wound healing assays. A ~4,700 bp fragment of the CFTR gene was confirmed to be correctly cloned in the adenoviral vector and amplification of Ad‑CFTR was observed in HEK293 cells during package. After 48 h of transfection with Ad‑CFTR, ~90% of A2780 cells were red fluorescence protein‑positive. Immunofluorescence showed that following transfection, CFTR expression was increased and CFTR was located in the cell membrane and cytoplasm. CFTR overexpression was shown to enhance the invasion and motility of A2780 cells in vitro. Furthermore, the effects of CFTR overexpression on the activation c‑Src signaling were observed by western blot analysis. CFTR overexpressing cells showed the lowest activity of phospho‑Src (Tyr530

  2. Heat shock protein 27 and gross cystic disease fluid protein 15 play critical roles in molecular apocrine breast cancer.

    PubMed

    Liu, Xiaozhen; Feng, Changyun; Liu, Junjun; Zhao, Lin; Liu, Jian; Zhang, Wei; Liu, Ning; Niu, Yun

    2016-06-01

    Molecular apocrine breast cancer (MABC) has a distinct hormonal profile, being estrogen receptor (ER) and progesterone receptor (PR) negative but androgen receptor (AR) positive. The clinical significance of MABC and its relative variables have not been absolutely clarified and remain to be determined. Five hundred cases of invasive breast carcinoma were randomly selected in this study, including 158 MABC cases and 342 nonMABC cases. Expression of ER, PR, epidermal growth factor receptor 2 (HER2), Ki67, AR, gross cystic disease fluid protein 15 (GCDFP15), and heat shock protein 27 (HSP27) were analyzed by immunohistochemistry. Differences of continuous variables between MABC and nonMABC subgroups were evaluated by the chi-square test. The Kaplan-Meier method was performed to evaluate disease-free survival (DFS) and overall survival (OS). The MABC subgroup had higher histological grade, bigger tumor size, more lymph node metastasis, and higher pTNM stage than the nonMABC subgroup (P < 0.05), and patients with MABC had poorer prognosis than those of the nonMABC subgroup (P < 0.05). Both GCDFP15 and HSP27 were expressed differently in the MABC and nonMABC subgroups (P < 0.05). Furthermore, in the MABC subgroup, positive HSP27 expression indicated higher risk of recurrence (P < 0.05) and positive GCDFP15 expression was also a poor marker for patient outcome (P < 0.05). MABC patients with HSP27 and GCDFP15 co-expression had worse outcome (P < 0.05). Our data suggested that MABC had a high risk of recurrence. Positive expression of both GCDFP15 and HSP27 were correlated with MABC malignancy. Targeting AR and HSP27 at the same time might offer a useful strategy to MABC. PMID:26711786

  3. Cystic Fibrosis

    MedlinePlus

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

  4. Salivary Gland Cancer Stem Cells

    PubMed Central

    Adams, April; Warner, Kristy; Nör, Jacques E.

    2013-01-01

    Emerging evidence suggests the existence of a tumorigenic population of cancer cells that demonstrate stem cell-like properties such as self-renewal and multipotency. These cells, termed cancer stem cells (CSC), are able to both initiate and maintain tumor formation and progression. Studies have shown that CSC are resistant to traditional chemotherapy treatments preventing complete eradication of the tumor cell population. Following treatment, CSC are able to re-initiate tumor growth leading to patient relapse. Salivary gland cancers are relatively rare but constitute a highly significant public health issue due to the lack of effective treatments. In particular, patients with mucoepidermoid carcinoma or adenoid cystic carcinoma, the two most common salivary malignancies, have low long-term survival rates due to the lack of response to current therapies. Considering the role of CSC in resistance to therapy in other tumor types, it is possible that this unique sub-population of cells is involved in resistance of salivary gland tumors to treatment. Characterization of CSC can lead to better understanding of the pathobiology of salivary gland malignancies as well as to the development of more effective therapies. Here, we make a brief overview of the state-of-the-science in salivary gland cancer, and discuss possible implications of the cancer stem cell hypothesis to the treatment of salivary gland malignancies. PMID:23810400

  5. Cystic Fibrosis Research

    MedlinePlus

    ... 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 ...

  6. Adenoid tissue lymphocyte subpopulations--evaluation of a quantitative analysis with flow cytometry.

    PubMed

    Hemlin, C; Carenfelt, C; Halldén, G; Hed, J; Scheynius, A

    1993-07-01

    Secretory otitis media (SOM) is a common childhood disease without a completely clarified etiology. A chronic inflammatory condition in the nasopharynx, presumably caused by an increased bacterial load, is one factor of probable etiological importance. In the present study a flow cytometric method for analysis of adenoid lymphoid cell populations was developed to facilitate quantitative comparisons between children with SOM and children without ear disease. Adenoids removed from 18 children due to adenoid hyperplasia and obstructive symptoms were studied. Results of the flow cytometric analysis correlated well with the findings from immunohistological studies of five of the adenoids. PCA-1 and CD25 were found to be good markers of increased cellular activity after non-specific stimulation in cell culture. It is concluded that the flow cytometric method is suitable for further quantitative analysis of adenoid tissue. PMID:8398095

  7. [Immunomodulators for topical application to prevent and manage chronic adenoiditis in children].

    PubMed

    Garashchenko, T I; Zelenkova, I V; Alferova, M V

    2011-01-01

    The authors report the results of a study on the efficacy of topical application of the immunomodulator IRS 19 in children presenting with chronic adenoiditis and grade I-III hypertrophy of adenoid vegetation. The use of this preparation is shown to faster and more efficaciously normalize the volume of the lymphoid tissue than irrigation of the nasopharynx with saline solutions. Moreover, the treatment of chronic adenoiditis with IRS 19 promoted normalization of biocenosis of the nasopharyngeal secretion and significantly decreased the abundance of pathogenic microflora. Specifically, the overall frequency of exacerbations and the frequency of exacerbations of adenoiditis decreased three- and two-fold respectively while the duration of the disease shortened. It is recommended that the topical immunomodulator IRS 19 should be included in the programs of planned seasonal treatment of children suffering chronic adenoiditis (to be applied at least 2-3 times annually). PMID:21512491

  8. Cetuximab and Everolimus in Treating Patients With Metastatic or Recurrent Colon Cancer or Head and Neck Cancer

    ClinicalTrials.gov

    2012-07-06

    Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Colon Cancer; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage IV Adenoid Cystic Carcinoma of the Oral Cavity; Stage IV Basal Cell Carcinoma of the Lip; Stage IV Lymphoepithelioma of the Nasopharynx; Stage IV Lymphoepithelioma of the Oropharynx; Stage IV Mucoepidermoid Carcinoma of the Oral Cavity; Stage IV Squamous Cell Carcinoma of the Hypopharynx; Stage IV Squamous Cell Carcinoma of the Larynx; Stage IV Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage IV Squamous Cell Carcinoma of the Nasopharynx; Stage IV Squamous Cell Carcinoma of the Oropharynx; Stage IV Verrucous Carcinoma of the Larynx; Stage IV Verrucous Carcinoma of the Oral Cavity; Stage IVA Colon Cancer; Stage IVA Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Stage IVA Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Stage IVA Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Stage IVA Salivary Gland Cancer; Stage IVA Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Stage IVB Colon

  9. 7-Hydroxystaurosporine and Irinotecan Hydrochloride in Treating Patients With Metastatic or Unresectable Solid Tumors or Triple Negative Breast Cancer (Currently Accruing Only Triple-negative Breast Cancer Patients Since 6/8/2007)

    ClinicalTrials.gov

    2013-09-27

    Advanced Adult Primary Liver Cancer; Carcinoma of the Appendix; Estrogen Receptor-negative Breast Cancer; Extensive Stage Small Cell Lung Cancer; Gastrointestinal Stromal Tumor; HER2-negative Breast Cancer; Metastatic Gastrointestinal Carcinoid Tumor; Ovarian Sarcoma; Ovarian Stromal Cancer; Progesterone Receptor-negative Breast Cancer; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Adult Primary Liver Cancer; Recurrent Anal Cancer; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Borderline Ovarian Surface Epithelial-stromal Tumor; Recurrent Breast Cancer; Recurrent Cervical Cancer; Recurrent Colon Cancer; Recurrent Endometrial Carcinoma; Recurrent Esophageal Cancer; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Extrahepatic Bile Duct Cancer; Recurrent Gallbladder Cancer; Recurrent Gastric Cancer; Recurrent Gastrointestinal Carcinoid Tumor; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Non-small Cell Lung Cancer; Recurrent Ovarian Epithelial Cancer; Recurrent Ovarian Germ Cell Tumor; Recurrent Pancreatic Cancer; Recurrent Prostate Cancer; Recurrent Rectal Cancer; Recurrent Salivary Gland Cancer; Recurrent Small Cell Lung Cancer; Recurrent Small Intestine Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral

  10. Erlotinib and Cetuximab With or Without Bevacizumab in Treating Patients With Metastatic or Unresectable Kidney, Colorectal, Head and Neck, Pancreatic, or Non-Small Cell Lung Cancer

    ClinicalTrials.gov

    2014-06-10

    Metastatic Squamous Neck Cancer With Occult Primary Squamous Cell Carcinoma; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Colon Cancer; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Metastatic Squamous Neck Cancer With Occult Primary; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Non-small Cell Lung Cancer; Recurrent Pancreatic Cancer; Recurrent Rectal Cancer; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage III Adenoid Cystic Carcinoma of the Oral Cavity; Stage III Basal Cell Carcinoma of the Lip; Stage III Colon Cancer; Stage III Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Stage III Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Stage III Lymphoepithelioma of the Nasopharynx; Stage III Lymphoepithelioma of the Oropharynx; Stage III Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Stage III Mucoepidermoid Carcinoma of the Oral Cavity; Stage III Pancreatic Cancer; Stage III Rectal Cancer; Stage III Salivary Gland Cancer; Stage III Squamous Cell Carcinoma of the Hypopharynx; Stage III Squamous Cell Carcinoma of the Larynx; Stage III Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage III Squamous Cell Carcinoma of the Nasopharynx

  11. Learning about Cystic Fibrosis

    MedlinePlus

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

  12. What Causes Cystic Fibrosis?

    MedlinePlus

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

  13. Nasal Foreign Body, Dislodged and Lost - Can the Adenoids Help?

    PubMed

    Jotdar, Arijit; Dutta, Mainak; Mukhopadhyay, Subrataataata

    2015-06-01

    Foreign body in the nasal cavity is one of the most common paediatric otolaryngology emergencies and needs to be promptly addressed. The incidence of nasal foreign body getting dislodged secondary to unsuccessful attempts to take it out is quite high and can be potentially dangerous as it might cause fatal airway compromise. The chances of it getting impacted and retained in the nasopharynx are practical, although such cases are seldom encountered for primarily nasal foreign bodies. Nevertheless, the nasopharynx should always be looked for as a site of impaction of hidden foreign objects. Presence of enlarged adenoids could be of help as it may prevent accidental lodgement of displaced foreign body in the airway, but might also result in difficulty in locating and retrieving the foreign body because it acts as an anchor-pad with its grooves and crevasses. This report presents a rare, interesting case of a child with enlarged adenoids anchoring a metallic ring and describes the clinical presentations and relevant management of a nasal foreign body dislodged and lost in the nasopharynx. PMID:26266143

  14. Cystic Fibrosis

    MedlinePlus

    ... Health Issues Conditions Abdominal ADHD Allergies & Asthma Autism Cancer Chest & Lungs Chronic Conditions Cleft & Craniofacial Developmental Disabilities Ear Nose & Throat Emotional Problems Eyes Fever From Insects or Animals Genitals and Urinary Tract Glands & Growth ...

  15. Living with Cystic Fibrosis

    MedlinePlus

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

  16. Bevacizumab in Reducing CNS Side Effects in Patients Who Have Undergone Radiation Therapy to the Brain for Primary Brain Tumor, Meningioma, or Head and Neck Cancer

    ClinicalTrials.gov

    2014-04-21

    Adult Anaplastic Astrocytoma; Adult Anaplastic Ependymoma; Adult Anaplastic Meningioma; Adult Anaplastic Oligodendroglioma; Adult Brain Stem Glioma; Adult Central Nervous System Germ Cell Tumor; Adult Choroid Plexus Tumor; Adult Diffuse Astrocytoma; Adult Ependymoma; Adult Grade II Meningioma; Adult Grade III Meningioma; Adult Malignant Hemangiopericytoma; Adult Mixed Glioma; Adult Oligodendroglioma; Adult Papillary Meningioma; Adult Pineocytoma; Malignant Neoplasm; Meningeal Melanocytoma; Radiation Toxicity; Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Adult Brain Tumor; Recurrent Basal Cell Carcinoma of the Lip; Recurrent Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Recurrent Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Salivary Gland Cancer; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Squamous Cell Carcinoma of the Paranasal Sinus and Nasal Cavity; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage I Adenoid Cystic Carcinoma of the Oral Cavity; Stage I Basal Cell Carcinoma of the Lip; Stage I Esthesioneuroblastoma of the Paranasal Sinus and Nasal Cavity; Stage I Inverted Papilloma of the Paranasal Sinus and Nasal Cavity; Stage I Lymphoepithelioma of the Nasopharynx; Stage I Lymphoepithelioma of the Oropharynx; Stage I Midline Lethal Granuloma of the Paranasal Sinus and Nasal Cavity; Stage I Mucoepidermoid Carcinoma of the Oral Cavity; Stage I Salivary Gland Cancer; Stage I Squamous Cell Carcinoma

  17. Tympanometric Findings among Children with Adenoid Hypertrophy in Port Harcourt, Nigeria.

    PubMed

    Nwosu, Chibuike; Uju Ibekwe, Mathilda; Obukowho Onotai, Lucky

    2016-01-01

    Introduction. Adenoid hypertrophy (AH) is a common childhood disorder. Adenoid plays a significant role in the pathogenesis of otitis media with effusion (OME). The aim of this study is to critically appraise the tympanometric finding among children with adenoid hypertrophy in Port Harcourt, Nigeria. Methodology. A Prospective, controlled study carried out among newly diagnosed cases of adenoid hypertrophy at the ENT clinic of the UPTH, between November 2014 and June 2015. Tympanometry was done on each child and each ear was considerably studied as a single entity. Types B and C tympanograms were used as indicators of OME. Data was collected and analyzed using SPSS version 20. Results. Sixty-eight cases of adenoid hypertrophy were seen within the study period and 136 ears were studied. Forty (29.4%) ears had type B tympanogram, while 36 (26.5%) ears had type C. The incidence of OME was 55.9%; there were 12 (17.6%) unilateral OME, while bilateral OME was 32 (47.1%). Grade 3 AH was prevalent and was statistically significant with the OME. Conclusion. This study had shown adenoidal hypertrophy as a significant risk factor for OME in children. There was more bilateral OME than unilateral. The more severe grade of AH was more prevalent and it was shown to be statistically significant with OME, thus being a significant risk factor for OME in children. This establishes the need for prompt hearing evaluation and management. PMID:27563311

  18. Tympanometric Findings among Children with Adenoid Hypertrophy in Port Harcourt, Nigeria

    PubMed Central

    Nwosu, Chibuike; Uju Ibekwe, Mathilda

    2016-01-01

    Introduction. Adenoid hypertrophy (AH) is a common childhood disorder. Adenoid plays a significant role in the pathogenesis of otitis media with effusion (OME). The aim of this study is to critically appraise the tympanometric finding among children with adenoid hypertrophy in Port Harcourt, Nigeria. Methodology. A Prospective, controlled study carried out among newly diagnosed cases of adenoid hypertrophy at the ENT clinic of the UPTH, between November 2014 and June 2015. Tympanometry was done on each child and each ear was considerably studied as a single entity. Types B and C tympanograms were used as indicators of OME. Data was collected and analyzed using SPSS version 20. Results. Sixty-eight cases of adenoid hypertrophy were seen within the study period and 136 ears were studied. Forty (29.4%) ears had type B tympanogram, while 36 (26.5%) ears had type C. The incidence of OME was 55.9%; there were 12 (17.6%) unilateral OME, while bilateral OME was 32 (47.1%). Grade 3 AH was prevalent and was statistically significant with the OME. Conclusion. This study had shown adenoidal hypertrophy as a significant risk factor for OME in children. There was more bilateral OME than unilateral. The more severe grade of AH was more prevalent and it was shown to be statistically significant with OME, thus being a significant risk factor for OME in children. This establishes the need for prompt hearing evaluation and management. PMID:27563311

  19. Solid tumors of the pancreas can put on a mask through cystic change

    PubMed Central

    2011-01-01

    Background Solid pancreatic tumors such as pancreatic ductal adenocarcinoma (PDAC), solid pseudopapillary tumor (SPT), and pancreatic endocrine tumor (PET) may occasionally manifest as cystic lesions. In this study, we have put together our accumulated experience with cystic manifestations of various solid tumors of the pancreas. Methods From 2000 to 2006, 376 patients with pancreatic solid tumor resections were reviewed. Ten (2.66%) of these tumors appeared on radiological imaging studies as cystic lesions. We performed a retrospective review of medical records and pathologic findings of these 10 cases. Results Of the ten cases in which solid tumors of the pancreas manifested as cystic lesions, six were PDAC with cystic degeneration, two were SPT undergone complete cystic change, one was cystic PET, and one was a cystic schwannoma. The mean tumor size of the cystic portion in PDAC was 7.3 cm, and three patients were diagnosed as 'pseudocyst' with or without cancer. Two SPT were found incidentally in young women and were diagnosed as other cystic neoplasms. One cystic endocrine tumor was preoperatively suspected as intraductal papillary mucinous neoplasm or mucinous cystic neoplasm. Conclusions Cystic changes of pancreas solid tumors are extremely rare. However, the possibility of cystic manifestation of pancreas solid tumors should be kept in mind. PMID:21771323

  20. [Cystic renal pathology].

    PubMed

    Rosi, P; Cesaroni, M; Bracarda, S; Rociola, W; Virgili, G

    1993-08-01

    Ultrasonography has a great interest in diagnosis of cystic kidney disorders for typical eco-pattern of this pathology. In this work we show the eco-pattern of the most common cystic kidney disorders. Particularly we examine simple cysts (typical, atypical, complicated), multicystic kidney dysplasia, autosomal recessive polycystic kidney disease (infantile) autosomal dominant polycystic kidney disease (adult age). The so-called neoplastic cysts (multiloculated cysts, multiloculated cysts nephroma, cystic nephroblastoma), medullar cysts (medullary sponge kidney, medullary cystic disease), parapyelic cysts, acquired cystic kidney disease in renal failure patients, parasitic cysts, epidermoid cysts. About this disorders we present the more typical and expressive ultrasonographic appearance and we define the role and the opportunity of diagnostic setting by echography, moreover ultrasonography allows us to make a differential diagnosis between cystic kidney disorders and other kidney disease. PMID:8353538

  1. How Is Cystic Fibrosis Diagnosed?

    MedlinePlus

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

  2. Renal cystic disease

    SciTech Connect

    Hartman, D.S.

    1988-01-01

    The book begins with an overview of renal cystic disease and a presentation of simple renal cysts. Subsequent chapters cover cystic disease in association with renal neoplasms and medullary sponge kidney. The chapters addressing autosomal-dominant and autosomal-recessive polycystic kidney disease discuss and differentiate the infantile and adult forms of the disease. There are also separate discussions of medullary cystic disease, multicystic dysplastic kidney, and cysts of the renarenal sinus.

  3. Reduced iNOS expression in adenoids from children with otitis media with effusion.

    PubMed

    Granath, Anna; Norrby-Teglund, Anna; Uddman, Rolf; Cardell, Lars-Olaf

    2010-12-01

    Nitric oxide (NO) is a key mediator in the local immune response of human airways. Inducible NO-synthases (iNOS), and endothelial NO-synthases (eNOS) are two enzymes known to regulate its production. The role of NO in middle ear disease is not fully known. Previous studies suggest that NO might have a dual role, both promoting and suppressing middle ear inflammation. The aim of the present study was to compare the eNOS and iNOS expression in adenoids obtained from children with otitis media with effusion (OME) with the expression seen in adenoids derived from children without middle ear disease. In addition, the expression of IL-1β and TNF-α were analyzed, because of their role in the iNOS-induction pathway. The iNOS and eNOS expression were analyzed with real-time PCR in 8 OME and 11 control adenoids. The corresponding proteins were demonstrated by immunohistochemical staining of adenoid tissue. A Luminex(®) assay was performed to analyze IL-1β and TNF-α in nasopharyngeal secretion in 10 OME and 8 controls, and immunohistochemistry was performed on adenoid tissue and imprints from the adenoid surface. Children with OME exhibited lower levels of iNOS than controls without middle ear disease. No such difference was seen for eNOS. The corresponding proteins were found mainly in conjunction with surface epithelium. No significant changes were seen among the cytokines tested. The present results indicate that local induction of iNOS in adenoids might be of importance for preventing development of OME. PMID:21073541

  4. Editing genomic DNA in cancer cells with high genetic variance: benefit or risk?

    PubMed

    Wang, Lin; Wang, Yixiang; Guo, Chuanbin

    2014-05-01

    The generation of stably-transfected cell lines is a common and very important technology in cancer science. Considerable knowledge in the field of life sciences has been gained through the modification of the genetic code. However, there is a risk in evaluating exogenous gene function through editing genomic DNA in a cancer cell with high genetic variance. In the present study, we showed that genomic DNA status should be considered when evaluating the exogenous gene function in a cancer cell line with high variant genome through stable transfection technology, immunostaining, wound healing assay, transwell invasion assay, real-time PCR, western blot and karyotyping analysis. Our results showed that the S100P expression level was not related to the migration and invasion abilities in these stably transfected cell lines derived from a human salivary adenoid cystic carcinoma cell line SACC-83. The MMP expression pattern was detected by western blot analysis which matched the biological behaviors in these cells. The genomic analysis showed that SACC-83 presented hypotetraploid karyotyping with high variance. Our data indicated that establishment of stable transgenic cancer cell lines should consider the status of genetic variance in a cancer cell to avoid any biased conclusion. PMID:24604254

  5. Children with recurrent otitis show defective IFN gamma-producing cells in adenoids.

    PubMed

    Avanzini, Antonietta M; Castellazzi, Anna Maria; Marconi, Massimo; Valsecchi, Chiara; Marseglia, Alessia; Ciprandi, Giorgio; De Silvestri, Annalisa; Marseglia, Gian Luigi

    2008-09-01

    Infectious diseases are frequently observed in children and their recurrence represents a demanding challenge for the paediatrician. It has been hypothesized that a defective immune response may occur in these patients. The aim of the present study was to evaluate whether children presenting with recurrent otitis have a defective interferon (IFN)gamma production by the lymphocytes of peripheral blood and of adenoid tissue, in comparison with children without recurrent otitis. Our study group was represented by 58 children undergoing adenoidectomy for adenoidal hypertrophy. They were subdivided into two groups according to the recurrence of otitis (>or=3 per year) or not (<3 per year). Intracellular cytokine profile of lymphocyte subsets in adenoids and peripheral blood was evaluated by flow cytometry analysis. Children with recurrent otitis showed a significantly lower percentage of CD8+-producing IFN gamma cells in adenoids than children with <3 otitis per year (p = 0.003). The reduced capability of the adenoid cells to produce INF-gamma may induce a high susceptibility to the recurrence of otitis in children. PMID:18266836

  6. 16S rRNA survey revealed complex bacterial communities and evidence of bacterial interference on human adenoids.

    PubMed

    Ren, Tiantian; Glatt, Dominique Ulrike; Nguyen, Tam Nhu; Allen, Emma Kaitlynn; Early, Stephen V; Sale, Michele; Winther, Birgit; Wu, Martin

    2013-02-01

    Adenoid microbiota plays an important role in the development of various infectious and non-infectious diseases of the upper airways, such as otitis media, adenotonsillitis, rhinosinusitis and adenoid hypertrophy. Studies have suggested that adenoids could act as a potential reservoir of opportunistic pathogens. However, previous bacterial surveys of adenoids were mainly culture based and therefore might only provide an incomplete and potentially biased assessment of the microbial diversity. To develop an in-depth and comprehensive understanding of the adenoid microbial communities and test the 'pathogen reservoir hypothesis', we carried out a 16S rRNA based, culture-independent survey of bacterial communities on 67 human adenoids removed by surgery. Our survey revealed highly diverse adenoid bacterial communities distinct from those of other body habitats. Despite large interpersonal variations, adenoid microbiota shared a core set of taxa and can be classified into at least five major types based on its bacterial species composition. Our results support the 'pathogen reservoir hypothesis' as we found common pathogens of otitis media to be both prevalent and abundant. Co-occurrence analyses revealed evidence consistent with the bacterial interference theory in that multiple common pathogens showed 'non-coexistence' relationships with non-pathogenic members of the commensal microflora. PMID:23113966

  7. Intranasal flunisolide treatment in children with adenoidal hypertrophy.

    PubMed

    Ciprandi, G; Varricchio, A; Capasso, M; Varricchio, A M; De Lucia, A; Ascione, E; Avvisati, F; Capristo, C; Marseglia, G L; Barillari, U

    2007-01-01

    Adenoidal hypertrophy (AH) represents one of the most frequent indications for surgery in children and it has been proposed that treatment with intranasal corticosteroids can decrease the size of AH. Therefore, the aim of the study is to evaluate the effect of the use of intranasal flunisolide among children affected by AH. 178 children with AH were evaluated in this randomised and controlled study. Inclusion criteria for the study required that each patient had to have a III or IV degree of AH on the initial endoscopic examination. Children were treated with intranasal flunisolide or isotonic saline solution for 8 weeks. After treatment, endoscopy was performed to re-evaluate AH degree. Flunisolide treatment was associated with significant (p less than 0.04) reduction of AH degree. There was moreover a consistent reduction of children (46 out of 58) proposed to adenoidectomy. No clinically important adverse events were reported. In conclusion, this preliminary study demonstrates that an 8-week treatment with intranasal flunisolide is significantly associated with reduction of AH, thus preventing the recurrence to adenoidectomy, and is safe. PMID:18179756

  8. Nonencapsulated Streptococcus pneumoniae as a cause of chronic adenoiditis

    PubMed Central

    Dixit, Cheshil; Keller, Lance E.; Bradshaw, Jessica L.; Robinson, D. Ashley; Swiatlo, Edwin; McDaniel, Larry S.

    2016-01-01

    Streptococcus pneumoniae is an important human pathogen. To cause disease, it must first colonize the nasopharynx. The widespread use of pneumococcal-conjugate vaccines which target the capsular polysaccharide has led to decreased nasopharyngeal carriage of vaccine serotypes, but a concomitant increase in carriage of non-vaccine serotypes and nonencapsulated S. pneumoniae (NESp). Some NESp express pneumococcal surface protein K (PspK), a virulence factor shown to contribute to nasopharyngeal colonization. We present the case of a child with chronic adenoiditis caused by a PspK+ NESp. We tested the pneumococcal isolate, designated C144.66, for antimicrobial resistance, the presence of the pspK gene and the expression of PspK. Sequence typing and genome sequencing were performed. C144.66 was found to be resistant to erythromycin and displayed intermediate resistance to penicillin and trimethoprim/sulfamethoxazole. C144.66 has the pspK gene in place of the capsule locus. Additionally, PspK expression was confirmed by flow cytometry. NESp are a growing concern as an emerging human pathogen, as current pneumococcal vaccines do not confer immunity against them. An inability to vaccinate against NESp may result in increased carriage and associated pathology. PMID:27144125

  9. Premalignant cystic neoplasms of the pancreas.

    PubMed

    Dudeja, Vikas; Allen, Peter J

    2015-02-01

    Due to increasing utilization of cross-sectional imaging, asymptomatic pancreatic cysts are frequently being diagnosed. Many of these cysts have premalignant potential and offer a unique opportunity for cancer prevention. Mucinous cystic neoplasm and intraductal papillary mucinous neoplasm are the major premalignant cystic neoplasms of pancreas. The prediction of the risk of malignancy (incidental and future risk of malignant transformation) and balancing the risks of watchful waiting with that of operative management with associated mortality and morbidity is the key to the management of these lesions. We review the literature that has contributed to the development of our approach to the management of these cystic neoplasms. We provide an overview of the key features used in diagnosis and in predicting malignancy. Particular attention is given to the natural history and management decision making. PMID:25726053

  10. Esophagoscopy in Evaluating Treatment in Patients With Stage I-IV Head and Neck Cancer Who Are Undergoing Radiation Therapy and/or Chemotherapy

    ClinicalTrials.gov

    2012-04-09

    Stage I Adenoid Cystic Carcinoma of the Oral Cavity; Stage I Mucoepidermoid Carcinoma of the Oral Cavity; Stage I Squamous Cell Carcinoma of the Hypopharynx; Stage I Squamous Cell Carcinoma of the Larynx; Stage I Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage I Verrucous Carcinoma of the Larynx; Stage I Verrucous Carcinoma of the Oral Cavity; Stage II Adenoid Cystic Carcinoma of the Oral Cavity; Stage II Mucoepidermoid Carcinoma of the Oral Cavity; Stage II Squamous Cell Carcinoma of the Hypopharynx; Stage II Squamous Cell Carcinoma of the Larynx; Stage II Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage II Verrucous Carcinoma of the Larynx; Stage II Verrucous Carcinoma of the Oral Cavity; Stage III Adenoid Cystic Carcinoma of the Oral Cavity; Stage III Mucoepidermoid Carcinoma of the Oral Cavity; Stage III Squamous Cell Carcinoma of the Hypopharynx; Stage III Squamous Cell Carcinoma of the Larynx; Stage III Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage III Verrucous Carcinoma of the Larynx; Stage III Verrucous Carcinoma of the Oral Cavity; Stage IV Adenoid Cystic Carcinoma of the Oral Cavity; Stage IV Mucoepidermoid Carcinoma of the Oral Cavity; Stage IV Squamous Cell Carcinoma of the Hypopharynx; Stage IV Squamous Cell Carcinoma of the Larynx; Stage IV Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage IV Verrucous Carcinoma of the Larynx; Stage IV Verrucous Carcinoma of the Oral Cavity

  11. An infrequent histopathological subtype of ameloblastoma: Adenoid granular cell ameloblastoma with dentinoid.

    PubMed

    Salehinejad, Jahanshah; Gholami, Mahdi; Eshghpour, Majid; Mehri, Tahere

    2016-01-01

    Adenoid ameloblastoma with dentinoid is a rare odontogenic tumor. Granular cell ameloblastoma also is a less common histological subtype of ameloblastoma. In this report, the patient was a 31-year-old male. The lesion was located in the right mandible and was unicystic with well-defined borders. The tumor tissue was showing a combination of follicular, plexiform, and desmoplastic patterns of ameloblastoma with wide areas of granular cells, fibrous stroma, glandular pattern, and dentinoid calcified. Very few cases of distinct forms of ameloblastoma that show the formation of dentinoid has been reported. However, there are no cases of adenoid granular cell ameloblastoma with dentinoid reported. PMID:27605998

  12. An infrequent histopathological subtype of ameloblastoma: Adenoid granular cell ameloblastoma with dentinoid

    PubMed Central

    Salehinejad, Jahanshah; Gholami, Mahdi; Eshghpour, Majid; Mehri, Tahere

    2016-01-01

    Adenoid ameloblastoma with dentinoid is a rare odontogenic tumor. Granular cell ameloblastoma also is a less common histological subtype of ameloblastoma. In this report, the patient was a 31-year-old male. The lesion was located in the right mandible and was unicystic with well-defined borders. The tumor tissue was showing a combination of follicular, plexiform, and desmoplastic patterns of ameloblastoma with wide areas of granular cells, fibrous stroma, glandular pattern, and dentinoid calcified. Very few cases of distinct forms of ameloblastoma that show the formation of dentinoid has been reported. However, there are no cases of adenoid granular cell ameloblastoma with dentinoid reported.

  13. Coexistence of Solid (Nodular) and Differentiated (Adenoid) Basal Cell Carcinoma at the Same Anatomical Site

    PubMed Central

    Rao, Angoori Gnaneshwar

    2015-01-01

    Coexistence of two different histopathological types of basal cell carcinomas (BCCs) in the same anatomical site is rare and interesting. Herein, we report a case of coexistence of nodular and adenoid BCC in a 78-year-old peasant who presented with a plaque and a globular swelling on left paranasal region of few years duration. Histopathology of skin biopsy with immunohistochemistry study using antibodies to S100, epithelial membrane antigen (EMA) and cytokeratin 7 (CK 7) from the margin of the ulcer and globular swelling confirmed the diagnosis that revealed features of nodular and adenoid basal cell carcinoma, respectively. Investigative work up did not reveal evidence of metastasis. PMID:26538745

  14. Inherited renal cystic diseases.

    PubMed

    Kim, Bohyun; King, Bernard F; Vrtiska, Terri J; Irazabal, Maria V; Torres, Vicente E; Harris, Peter C

    2016-06-01

    A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed. PMID:27167233

  15. Cystic Adenomatoid Odontogenic Tumor

    PubMed Central

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

    2015-01-01

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

  16. Acquired Cystic Kidney Disease

    MedlinePlus

    ... a kidney transplant or blood-filtering treatments called dialysis. The cysts are more likely to develop in people who are on kidney dialysis. The chance of developing acquired cystic kidney disease ...

  17. Epidural Cystic Spinal Meningioma

    PubMed Central

    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

  18. Cystic Fibrosis (CF) Respiratory Screen: Sputum

    MedlinePlus

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

  19. Microbiological Profile of Adenoid Hypertrophy Correlates to Clinical Diagnosis in Children

    PubMed Central

    Szalmás, Anita; Csomor, Péter; Kónya, József; Sziklai, István; Szekanecz, Zoltán; Karosi, Tamás

    2013-01-01

    Objective. Adenoid hypertrophy is a common condition in childhood, which may be associated with recurring acute otitis media (RAOM), otitis media with effusion (OME), and obstructive sleep apnea syndrome (OSAS). These different clinical characteristics have some clinical overlap; however, they might be explained by distinct immunologic and infectious profiles and result in various histopathologic findings of adenoid specimens. Methods. A total of 59 children with adenoid hypertrophy undergoing adenoidectomy were studied. Three series of identical adenoid specimens were processed to hematoxylin-eosin (H.E.) and Gram staining and to respiratory virus specific real-time PCR, respectively. Results. According to the clinical characteristics, patients were recruited into three groups: RAOM (n = 25), OME (n = 19), and OSAS (n = 15). Bacterial biofilms were detected in 21 cases, while at least one of the studied respiratory viruses was detected in 52 specimens. RAOM cases were significantly associated with biofilm existence (n = 20, P < 0.001). In contrast, OME group was characterized by the absence of bacterial biofilm and by normal mucosa. Showing a statistically significant correlation, all OME cases were positive for human bocavirus (HBoV, P < 0.001). Conclusions. Bacterial biofilms might contribute to the damage of respiratory epithelium and recurring acute infections resulting in RAOM. In OME cases persisting respiratory viruses, mainly HBoV, can cause subsequent lymphoid hyperplasia leading to ventilation disorders and impaired immunoreactivity of the middle ear cleft. PMID:24175295

  20. Multiple cystic lung disease.

    PubMed

    Ferreira Francisco, Flavia Angélica; Soares Souza, Arthur; Zanetti, Gláucia; Marchiori, Edson

    2015-12-01

    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. PMID:26621970

  1. Cystic renal tumors: new entities and novel concepts.

    PubMed

    Moch, Holger

    2010-05-01

    Cystic renal neoplasms and renal epithelial stromal tumors are diagnostically challenging and represent some novel tumor entities. In this article, clinical and pathologic features of established and novel entities are discussed. Predominantly cystic renal tumors include cystic nephroma/mixed epithelial and stromal tumor, synovial sarcoma, and multilocular cystic renal cell carcinoma. These entities are own tumor entities of the 2004 WHO classification of renal tumors. Tubulocystic carcinoma and acquired cystic disease-associated renal cell carcinoma are neoplasms with an intrinsically cystic growth pattern. Both tumor types should be included in a future WHO classification as novel entities owing to their characteristic features. Cysts and clear cell renal cell carcinoma frequently coexist within the kidneys of patients with von Hippel-Lindau disease. Sporadic clear cell renal cell carcinomas often contain cysts, usually as a minor component. Some clear cell renal cell carcinomas have prominent cysts, and multilocular cystic renal cell carcinoma is composed almost exclusively of cysts. Recent molecular findings suggest that clear cell renal cancer may develop through cyst-dependent and cyst-independent molecular pathways. PMID:20418675

  2. Nasopharyngeal vs. adenoid cultures in children undergoing adenoidectomy: prevalence of bacterial pathogens, their interactions and risk factors.

    PubMed

    Korona-Glowniak, I; Niedzielski, A; Kosikowska, U; Grzegorczyk, A; Malm, A

    2015-03-01

    Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis and Staphylococcus aureus colonization of the adenoids and nasopharynx in 103 preschool children who underwent adenoidectomy for recurrent upper respiratory tract infections was examined. Bacterial interactions and risk factors for bacterial colonization of the nasopharynx and adenoids, separately, were analysed statistically. The prevalence of simultaneous isolation from both anatomical sites was 45·6% for S. pneumoniae, 29·1% for H. influenzae, 15·5% for M. catarrhalis and 18·4% for S. aureus. Three pathogens were significantly more frequent together from adenoid samples; nasopharyngeal swabs more often yielded a single organism, but without statistical significance. M. catarrhalis and S. aureus significantly more frequently co-existed with S. pneumoniae and H. influenzae than with each other and a positive association of S. pneumoniae and H. influenzae in adenoid samples was evident. Several differences between risk factors for nasopharyngeal and adenoid colonization by the individual pathogens were observed. We conclude that the adenoids and nasopharynx appear to differ substantially in colonization by pathogenic microbes but occurrence of H. influenzae and S. pneumoniae in the nasopharynx could be predictive of upper respiratory tract infections. PMID:25703401

  3. Cystic and nodular lung disease.

    PubMed

    Richards, J Caleb; Lynch, David A; Chung, Jonathan H

    2015-06-01

    Diffuse cystic and nodular lung diseases have characteristic imaging findings. The most common causes of cystic lung disease are lymphangioleiomyomatosis and Langerhans cell histiocytosis. Other less common cystic lung diseases include Birt-Hogg-Dube syndrome, lymphocytic interstitial pneumonitis, and light chain deposition disease. Computed tomography is used to differentiate cystic lung disease from emphysema, honeycombing, cavities, and bronchiectasis, which mimic cystic lung disease. Diffuse nodular lung disease are categorized as centrilobular, perilymphatic, and random types. In diffuse nodular lung disease, a specific diagnosis is achieved through a combination of history, physical examination, and imaging findings. PMID:26024606

  4. [News in cystic fibrosis].

    PubMed

    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. PMID:23856023

  5. [The comparative effectiveness of framycetin included in combined therapy of adenoiditis in the children].

    PubMed

    Soldatskiĭ, Iu L; Denisova, O A; Ivanenko, A M

    2014-01-01

    The objective of the present study was to evaluate the effectiveness of framycetin included in combined therapy of adenoiditis in the children. The study involved 67 children at the mean age of 6.9±2.7 years. Group 1 was comprised of 35 children given framycetin as topical therapy, the patients of group 2 were treated by the endonasal administration of a 2% silver proteinate solution. It was shown that the use of framycetin as a component of combined therapy of adenoiditis enhances the effectiveness of the treatment and compliance to therapy in comparison with the same parameters in the case of the application of traditional topical antibacterial preparations. PMID:25588492

  6. Prevalence and patterns of palatine and adenoid tonsilloliths in cone-beam computed tomography images of an Iranian population

    PubMed Central

    Kajan, Zahra Dalili; Sigaroudi, Ali Khalighi; Mohebbi, Majedeh

    2016-01-01

    Background: Tonsilloliths are calcified concretions that develop in tonsillar crypts. They are usually small and asymptomatic, so they are found accidentally during routine dental radiogrphy procedure. Large tonsilloliths can occur with clinical signs and symptoms. The purpose of this study was to evaluate the prevalence and patterns of palatine and adenoid tonsilloliths in cone-beam computed tomography (CBCT) images. Materials and Methods: In this cross-sectional study, 0.5-mm axial and coronal slices of 134 CBCT images were evaluated to determine the presence of palatine and adenoid calcifications. Their patterns such as being unilateral or bilateral as well as single or multiple and their largest linear sizes were reported. Results: Fifty-four (40.3%) patients with palatine tonsilloliths and 17 (12.7%) with adenoid calcifications were found. Thirty (55.6%) palatine tonsilloliths were unilateral, 19 (35.2%) were detected in the left tonsils. Approximately, 54 cases of 78 palatine calcifications were multiple. Seventeen patients had adenoid calcifications that 41.1% of them were unilateral. Fourteen adenoid calcifications were single. The mean ages of patients with palatine tonsilloliths and adenoid calcifications were 45.59 years and 46.53 years, respectively. The range of linear measurements of palatine tonsil calcifications was 0.9–4.2 mm (2.47-mm mean size) while adenoid calcifications ranged from 0.5 to 2.2 mm (0.95-mm mean size). The level of statistical significant difference was <0.05. Conclusion: Gender did not affect total prevalence, the pattern of tonsilar calcifications and their linear sizes. The prevalence of tonsilloliths increased with aging, but this variable did not have an effect on their linear size.

  7. The Cystic Fibrosis Intestine

    PubMed Central

    De Lisle, Robert C.; Borowitz, Drucy

    2013-01-01

    The clinical manifestations of cystic fibrosis (CF) result from dysfunction of the cystic fibrosis transmembrane regulator protein (CFTR). The majority of people with CF have a limited life span as a consequence of CFTR dysfunction in the respiratory tract. However, CFTR dysfunction in the gastrointestinal (GI) tract occurs earlier in ontogeny and is present in all patients, regardless of genotype. The same pathophysiologic triad of obstruction, infection, and inflammation that causes disease in the airways also causes disease in the intestines. This article describes the effects of CFTR dysfunction on the intestinal tissues and the intraluminal environment. Mouse models of CF have greatly advanced our understanding of the GI manifestations of CF, which can be directly applied to understanding CF disease in humans. PMID:23788646

  8. Cystic Lymphangioma of Pancreas.

    PubMed

    Bihari, Chhagan; Rastogi, Archana; Rajesh, S; Arora, Ankur; Arora, Asit; Kumar, Nikhil

    2016-03-01

    Lymphangiomas are benign hamartomatous malformations which can arise either from congenitally sequestered lymphatic channels or due to acquired obstruction caused by fibrosis of lymph channels. They are common in the pediatric age group in the soft tissue of neck and the axilla. Abdominal lymphangiomas are rare; even rarer is the primary involvement of pancreas. It occurs more frequently in females and is often located in the distal pancreas. The authors report the case of cystic lymphangioma of pancreas in a 26-year old female presenting with recurrent episodes of upper abdominal pain that was treated with laparoscopic cyst excision. Although exceptionally rare, lymphangioma of the pancreas should be considered in the differential diagnosis of pancreatic cystic lesions, especially in young women. PMID:27065694

  9. Cervicothoracic cystic dysraphism.

    PubMed

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

    2016-09-01

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

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

    SciTech Connect

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

    2013-03-01

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

  11. Cystic pulmonary hydatidosis

    PubMed Central

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

    2016-01-01

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

  12. Epidemiology of Cystic Fibrosis.

    PubMed

    Spoonhower, Kimberly A; Davis, Pamela B

    2016-03-01

    Improved quality of care and rapidly emerging therapeutic strategies to restore chloride transport profoundly impact the epidemiology and pathobiology of cystic fibrosis (CF) in the twenty-first century. CF now serves as a model for chronic illness management, continuous quality improvement via registry data, and a seamless link between basic science research, translational studies, clinical trials, and outcomes research to enable rapid expansion of treatment options. PMID:26857763

  13. Conservation therapy for breast cancers other than infiltrating ductal carcinoma.

    PubMed

    Kurtz, J M; Jacquemier, J; Torhorst, J; Spitalier, J M; Amalric, R; Hünig, R; Walther, E; Harder, F; Almendral, A; Brandone, H

    1989-04-15

    Pathologic review of 861 Stage I and II breast cancers yielded 152 patients (18%) with histologic types other than invasive ductal carcinoma. All patients had been treated by breast-conserving surgery and radiotherapy, including supplemental radiation to the tumor bed. For 67 patients with predominantly lobular carcinomas, the actuarial overall 5-year survival was 100% and 77% for node-negative and node-positive patients, respectively. The actuarial probability of recurrence in the treated breast (13.5% at 5 years) appeared to be somewhat greater than that observed after treatment of invasive ductal cancers (8.8% at 5 years, P = 0.11). Of 12 mammary recurrences in patients with lobular carcinoma, four occurred at a considerable distance from the original primary and seven were multifocal, involving more than one quadrant in five patients. Of 47 patients with strictly in situ carcinomas, one patient whose axillary nodal status had not been determined subsequently developed distant metastases. Three additional patients developed mammary recurrence, two at the primary tumor site and one in another quadrant. The actuarial 5-year mammary recurrence and overall survival rates were 4% and 98%, respectively. For 27 patients with true medullary cancers, overall survival at 5 years was 90%. One localized mammary recurrence was observed at the site of the original primary. Actuarial mammary recurrence rate was 4% at 5 years. No relapse was observed in ten patients with colloid and one patient with adenoid cystic carcinoma. The authors conclude that, in addition to its well-established efficacy in the treatment of infiltrating ductal carcinomas, the combination of tumor excision and radiotherapy appears to provide adequate local control for other histologic types as well. However, patients with lobular cancer appear to be at somewhat greater risk of mammary failure, and recurrences in such patients tend to be multifocal and multicentric. PMID:2538219

  14. Cystic lesions of the pancreas

    PubMed Central

    Hruban, Ralph H.; Fukushima, Noriyoshi

    2008-01-01

    Summary In contrast to the relatively uniform pathology and the unyielding dismal outcome associated with infiltrating ductal adenocarcinoma of the pancreas, cystic lesions have a broad spectrum of gross and microscopic pathologies, and a range of clinical outcomes. The common cystic lesions of the pancreas are reviewed with emphasis on practical tips for distinguishing between the main entities. PMID:20953247

  15. Mature Cystic Teratoma of Liver

    PubMed Central

    Gupta, Richa; Bansal, Kalpana; Manchanda, Vivek

    2013-01-01

    A four-year-old boy presented with constipation and mild abdominal distention for one year. Radiologic investigations showed a multiloculated cystic lesion in the caudate lobe of liver with focal calcification in the wall. The child underwent laparotomy with marsupialization of the cystic lesion. Histopathologic examination showed mature teratoma of liver. PMID:24040591

  16. Cystic Fibrosis Therapeutics

    PubMed Central

    Ramsey, Bonnie W.

    2013-01-01

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

  17. Perineural Spread in Noncutaneous Head and Neck Cancer: New Insights into an Old Problem.

    PubMed

    Amit, Moran; Eran, Ayelet; Billan, Salem; Fridman, Eran; Na'ara, Shorook; Charas, Tomer; Gil, Ziv

    2016-04-01

    Head and neck malignancies have the propensity to invade nerves. Perineural tumor invasion is common, with some series reporting rates of 30 to 100%. Squamous cell carcinoma and adenoid cystic carcinoma are the most commonly involved tumors. The most commonly involved nerves are the trigeminal (cranial nerve [CN] V) and facial (CN VII) and their branches. Neural spread away from a tumor is encountered less often and usually causes specific symptoms such as pain, muscle weakness, and atrophy, depending on the involved nerves. While clinical symptoms and physical examination may suggest the presence of neural invasion, specific imaging modalities such as fat-suppressed T1-weighted magnetic resonance images, should be utilized to identify perineural tumor spread in its early phases. Perineural tumor spread should be considered and addressed in the treatment planning of patients with head and neck or skull base cancers as it can influence the extent of surgery, and the dosage and fields of radiation therapy. In the current review, we discuss the clinical course of perineural tumor spread and its therapeutic implications. PMID:27123384

  18. Gastrointestinal Manifestations of Cystic Fibrosis

    PubMed Central

    2016-01-01

    Cystic fibrosis has historically been considered a pulmonary disease, but with the increasing life expectancy of these patients, gastrointestinal manifestations are becoming more important. Furthermore, nutritional status is closely linked to pulmonary function and, thus, overall mortality. This article discusses gastrointestinal manifestations (which involve nutritional, pancreatic, hepatobiliary, and, in particular, gastrointestinal tract issues) of cystic fibrosis as well as management of the disease. In addition, the article discusses studies that have been critical to our understanding of gastrointestinal manifestations of cystic fibrosis. PMID:27330503

  19. Chloride impermeability in cystic fibrosis

    NASA Astrophysics Data System (ADS)

    Quinton, Paul M.

    1983-02-01

    Cystic fibrosis is the most common fatal genetic disease affecting Caucasians and is perhaps best characterized as an exocrinopathy involving a disturbance in fluid and electrolyte transport1. A high NaCl concentration in the sweat is characteristic of patients with this disease; the basic physiological reason for this abnormality is unknown. We have microperfused isolated sweat ducts from control subjects and cystic fibrosis patients, and report here results which suggest that abnormally low Cl- permeability in cystic fibrosis leads to poor reabsorption of NaCl in the sweat duct, and hence to a high concentration of NaCl in the sweat.

  20. Helicobacter pylori in tonsillar and adenoid tissue and its possible role in oropharyngeal carcinogenesis.

    PubMed

    Lukes, P; Astl, J; Pavlík, E; Potuzníková, B; Sterzl, I; Betka, J

    2008-01-01

    Helicobacter pylori is a well-known gastric pathogen. It plays a major role in the pathogenesis of chronic gastritis, duodenal and gastric ulcers, adenocarcinoma and gastric lymphoma. HP infection is one of the most common bacterial infections worldwide. Recently, the oral cavity was proposed as an extragastric reservoir of HP infection. HP was detected by culture and PCR in both dental plaque and saliva. It is supposed that HP infection can cause the same immunological changes in the oropharyngeal mucosa as in gastric mucosa and can also contribute to the progression of oropharyngeal diseases. HP can induce production of different cytokines and regulatory molecules, which are suggested to play a role in carcinogenesis of the oropharynx. Only a few studies have explored the presence of HP in tonsillar and adenoid tissue, where MALT is present similar to the gastric mucosa. The results of these studies were inconsistent. The question of persistence of HP in tonsillar and adenoid tissue and its role in the pathogenesis of oropharyngeal diseases still remains unclear. In this review, recent findings about oral HP are considered. Possibilities of diagnostics of HP in oral specimens are discussed. PMID:18498719

  1. Epithelial Cell Culture from Human Adenoids: A Functional Study Model for Ciliated and Secretory Cells

    PubMed Central

    González, Claudia; Espinosa, Marisol; Sánchez, María Trinidad; Droguett, Karla; Ríos, Mariana; Fonseca, Ximena; Villalón, Manuel

    2013-01-01

    Background. Mucociliary transport (MCT) is a defense mechanism of the airway. To study the underlying mechanisms of MCT, we have both developed an experimental model of cultures, from human adenoid tissue of ciliated and secretory cells, and characterized the response to local chemical signals that control ciliary activity and the secretion of respiratory mucins in vitro. Materials and Methods. In ciliated cell cultures, ciliary beat frequency (CBF) and intracellular Ca2+ levels were measured in response to ATP, UTP, and adenosine. In secretory cultures, mucin synthesis and secretion were identified by using immunodetection. Mucin content was taken from conditioned medium and analyzed in the presence or absence of UTP. Results. Enriched ciliated cell monolayers and secretory cells were obtained. Ciliated cells showed a basal CBF of 10.7 Hz that increased significantly after exposure to ATP, UTP, or adenosine. Mature secretory cells showed active secretion of granules containing different glycoproteins, including MUC5AC. Conclusion. Culture of ciliated and secretory cells grown from adenoid epithelium is a reproducible and feasible experimental model, in which it is possible to observe ciliary and secretory activities, with a potential use as a model to understand mucociliary transport control mechanisms. PMID:23484122

  2. Neutrophils in cystic fibrosis.

    PubMed

    Laval, Julie; Ralhan, Anjali; Hartl, Dominik

    2016-06-01

    Cystic fibrosis (CF) lung disease is characterized by chronic infection and inflammation. Among inflammatory cells, neutrophils represent the major cell population accumulating in the airways of CF patients. While neutrophils provide the first defensive cellular shield against bacterial and fungal pathogens, in chronic disease conditions such as CF these short-lived immune cells release their toxic granule contents that cause tissue remodeling and irreversible structural damage to the host. A variety of human and murine studies have analyzed neutrophils and their products in the context of CF, yet their precise functional role and therapeutic potential remain controversial and incompletely understood. Here, we summarize the current evidence in this field to shed light on the complex and multi-faceted role of neutrophils in CF lung disease. PMID:26854289

  3. [Cystic kidney diseases].

    PubMed

    Zerres, K; Ortiz Brüchle, N

    2012-04-01

    Cystic kidney diseases are clinically and genetically heterogeneous. The most important entities are autosomal-dominant and autosomal-recessive polycystic kidney diseases. The proteins encoded by the involved genes are referred to as cystoproteins, which are located predominantly in the primary cilia. Primary cilia play an important role in cyst formation. Inherited polycystic kidney diseases belong to the increasing number of reported ciliopathies, including several syndromic entities. An exact diagnosis is the basis for medical care and genetic counselling; thus, the diagnostic algorithm should include clinical, ultrasonographic and morphological features of the underlying kidney disease, knowledge about further features and family history. Molecular genetic testing may contribute important information towards a definite diagnosis. PMID:22410941

  4. [Rhinosinusitis in cystic fibrosis].

    PubMed

    Mainz, J G; Gerber, A; Arnold, C; Baumann, J; Baumann, I; Koitschev, A

    2015-11-01

    In cystic fibrosis (CF) mucociliary clearance of the entire respiratory system is impaired. This allows pathogens, such as Pseudomonas aeruginosa to persist and proliferate, which by progressive pulmonary destruction causes 90 % of premature deaths due to this inherited disease. The dramatic improvement in life expectation of patients due to intensive therapy has resulted in the inevitable but variably expressed sinonasal involvement coming into the clinical and scientific focus. Thereby, almost all CF patients reveal sinonasal pathology and many suffer from chronic rhinosinusitis. Recently, the sinonasal niche has been recognized as a site of initial and persistent colonization by pathogens. This article presents the pathophysiological background of this multiorgan disease as well as general diagnostic and therapeutic standards. The focus of this article is on sinonasal involvement and conservative and surgical options for treatment. Prevention of pathogen acquisition is an essential issue in the otorhinolaryngological treatment of CF patients. PMID:26495450

  5. Cystic fibrosis in pregnancy.

    PubMed Central

    Kent, N E; Farquharson, D F

    1993-01-01

    OBJECTIVE: To review the outcomes of pregnancies in women with cystic fibrosis (CF) and to address issues pertinent to the obstetric care of such women. DATA SOURCES: English-language case reports and case series published from 1960 to 1991 identified through a search of MEDLINE and Index Medicus. The terms of reference were "cystic fibrosis" and "pregnancy". Not all the reports reviewed addressed all the outcomes under consideration. STUDY SELECTION: A total of 20 reports citing cases of pregnancy in women with CF. DATA EXTRACTION: Outcomes included the number of spontaneous abortions, pregnancies continued beyond 20 weeks, preterm deliveries, maternal deaths at 6 months and 2 years after delivery and perinatal deaths. Breast-feeding was addressed. Measures to assess the severity of maternal disease included the mean age at diagnosis of CF, weight gain during pregnancy, pulmonary function studies if available and the need for pancreatic enzyme replacement therapy. DATA SYNTHESIS: Of 217 pregnancies in 162 women spontaneous abortion occurred in 10 (4.6%). Pregnancy progressed beyond 20 weeks in 81.6% of cases; 24.3% of the deliveries were preterm. The maternal death rate did not exceed that among age-related women with CF who were not pregnant. The rate of perinatal death was 7.9%. Breast milk was not hypernatremic. Poor outcomes were associated with a weight gain of less than 4.5 kg and a forced vital capacity of less than 50% of the predicted value. CONCLUSIONS: Premature labour and delivery remain a significant risk for pregnant women with CF, contributing to a high rate of perinatal death. Maternal illness and death result from deteriorating pulmonary function. Breast-feeding is not contraindicated. Attention to energy intake and pulmonary function is important. PMID:8374843

  6. Genetics Home Reference: cystic fibrosis

    MedlinePlus

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

  7. Steady Advances Against Cystic Fibrosis

    MedlinePlus

    ... age 2, he grew up playing everything from football and lacrosse to ice hockey and golf. And ... Who's at Risk? Cystic fibrosis affects males and females from all racial and ethnic groups. It is ...

  8. Long-term Outcomes and Quality of Life of 186 Patients With Primary Parotid Carcinoma Treated With Surgery and Radiotherapy at the Daniel den Hoed Cancer Center

    SciTech Connect

    Al-Mamgani, Abrahim; Rooij, Peter van; Verduijn, Gerda M.; Meeuwis, Cees A.; Levendag, Peter C.

    2012-09-01

    Purpose: To assess the outcomes, toxicity, and quality of life (QOL) of patients with primary parotid carcinoma treated with surgery and postoperative radiotherapy at the Daniel den Hoed Cancer Center. Methods and Materials: Between 1995 and 2010, 186 patients with parotid carcinoma were treated with parotidectomy with or without neck dissection, followed by radiotherapy. Elective nodal irradiation (ENI) was applied to high-risk, node-negative disease. End points were locoregional control (LRC), disease-free survival (DFS), cause-specific survival (CSS), and overall survival (OS), late toxicity, and QOL. Results: After a median follow-up of 58 months (range, 4-172 months), the 5-year Kaplan-Meier estimates for LRC, DFS, CSS, and OS were 89%, 83%, 80%, and 68%, respectively. Forty-five events were reported: 24 distant metastases (DM) and 21 locoregional failures (LRF). Event-free survival rates by histological types were 89%, 78%, 76%, 74%, and 70% for acinic cell, mucoepidermoid, adenoid cystic, adenocarcinoma, and squamous cell carcinoma, respectively. More LRF were reported in patients with squamous cell and high-grade mucoepidermoid carcinoma (21% and 19%, respectively) than in patients with other histological types (p = 0.04) and more DM in patients with adenoid cystic and adenocarcinoma (20% and 19%, respectively) than in patients with other types (p = 0.03). None of the high-risk node-negative patients who received ENI developed regional failure. On multivariate analysis, T stage, N stage, grade, and presence of perineural invasion and facial paralysis correlated significantly with DFS. The 5-year cumulative incidence of grade {>=}2 late toxicity was 8%. QOL scores deteriorate during and shortly after treatment but returned in almost all scales to baseline scores within 6 months. Conclusions: Of the entire group, surgery and postoperative radiotherapy resulted in excellent outcomes with minimal side effects and preservation of good QOL scores. However, in

  9. Cystic lesions of the pancreas

    PubMed Central

    Karoumpalis, Ioannis; Christodoulou, Dimitrios K.

    2016-01-01

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

  10. Cystic lesions of the pancreas.

    PubMed

    Karoumpalis, Ioannis; Christodoulou, Dimitrios K

    2016-01-01

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

  11. Transoral Robotic Surgery in Treating Patients With Benign or Stage I-IV Head and Neck Cancer

    ClinicalTrials.gov

    2014-11-07

    Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Lymphoepithelioma of the Nasopharynx; Recurrent Lymphoepithelioma of the Oropharynx; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Squamous Cell Carcinoma of the Nasopharynx; Recurrent Squamous Cell Carcinoma of the Oropharynx; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage I Adenoid Cystic Carcinoma of the Oral Cavity; Stage I Lymphoepithelioma of the Nasopharynx; Stage I Lymphoepithelioma of the Oropharynx; Stage I Mucoepidermoid Carcinoma of the Oral Cavity; Stage I Squamous Cell Carcinoma of the Hypopharynx; Stage I Squamous Cell Carcinoma of the Larynx; Stage I Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage I Squamous Cell Carcinoma of the Nasopharynx; Stage I Squamous Cell Carcinoma of the Oropharynx; Stage I Verrucous Carcinoma of the Larynx; Stage I Verrucous Carcinoma of the Oral Cavity; Stage II Adenoid Cystic Carcinoma of the Oral Cavity; Stage II Lymphoepithelioma of the Nasopharynx; Stage II Lymphoepithelioma of the Oropharynx; Stage II Mucoepidermoid Carcinoma of the Oral Cavity; Stage II Squamous Cell Carcinoma of the Hypopharynx; Stage II Squamous Cell Carcinoma of the Larynx; Stage II Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage II Squamous Cell Carcinoma of the Nasopharynx; Stage II Squamous Cell Carcinoma of the Oropharynx; Stage II Verrucous Carcinoma of the Larynx; Stage II Verrucous Carcinoma of the Oral Cavity; Stage III Adenoid Cystic Carcinoma of the Oral Cavity; Stage III Lymphoepithelioma of the Nasopharynx; Stage III Lymphoepithelioma of the Oropharynx; Stage III Mucoepidermoid Carcinoma of the Oral Cavity; Stage III Squamous Cell Carcinoma of the Hypopharynx; Stage III Squamous Cell Carcinoma of the Larynx; Stage

  12. Mucolytics in cystic fibrosis.

    PubMed

    Henke, Markus O; Ratjen, Felix

    2007-03-01

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

  13. PULMONARY CYSTIC ECHINOCOCCOSIS

    PubMed Central

    Santivanez, Saul; Garcia, Hector H.

    2012-01-01

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

  14. Cystic Fibrosis Sinusitis.

    PubMed

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

    2016-01-01

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

  15. [Homeopathic treatment of adenoid vegetations. Results of a prospective, randomized double-blind study].

    PubMed

    Friese, K H; Feuchter, U; Moeller, H

    1997-08-01

    In a monocenter prospective randomized double-blind clinical trial the efficacy of homeopathic treatment was investigated on children with adenoid vegetations justifying an operation. Patients were treated with either homeopathic remedies such as Nux vomica D200, Okoubaka D3, Tuberculinum D200, Barium jodatum D4 and Barium jodatum D6 or with placebo. The duration of the study for each patient was 3 months. Examination of the ears using a microscope, rhinoscopy, stomatoscopy and pharyngoscopy, as well as tympanometry and audiometry were performed after 4, 8 and 12 weeks. Out of a total of 97 children studied between the ages of 4 to 10 years 82 could be analyzed. At the end of the study no operation was required in 70.7% of the placebo-treated children and in 78.1% of the children treated with homeopathic preparations. These results show no statistical significance. PMID:9378668

  16. Nasal Mucociliary Clearance in Adenoid Hypertrophy and Otitis Media with Effusion.

    PubMed

    Yazıcı, Hasmet

    2015-12-01

    Mucociliary clearance (MCC), which exists in many systems, is the first defensive mechanism of the human body. Nasal MCC has an important role in transporting the secretions of the nasal cavity and paranasal sinuses along with the trapped inhaled pathogens to the nasopharynx. Physiologic or pathologic situations that effect nasal MCC, such as temperature, humidity, nasal obstruction, allergic rhinitis, chronic infections, etc., lead to impaired MCC and related local or circumjacent system disorders. With this perspective, when a unified airway with a multiple disease principle is considered, investigating the relationship between adenoid hypertrophy (AH), otitis media with effusion (OME) and nasal MCC is logical. In this review, histological and physiologic properties of nasal MCC and its possible role involving pathologic situations such as AH and OME is discussed together with recent literature findings. PMID:26496764

  17. Cystic Lesions in Autoimmune Pancreatitis.

    PubMed

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

    2015-01-01

    Autoimmune pancreatitis (AIP) can be chronic or recurrent, but frequently completely reversible after steroid treatment. A cystic lesion in AIP is a rare finding, and it can mimic a pancreatic cystic neoplasm. Difficulties in an exact diagnosis interfere with treatment, and surgery cannot be avoided in some cases. We report the history of a 63-year-old male presenting with jaundice and pruritus. AIP was confirmed by imaging and elevated IgG4 blood levels, and the patient completely recovered after corticosteroid therapy. One year later, he presented with a recurrent episode of AIP with elevated IgG4 levels, accompanied by the appearance of multiple intrapancreatic cystic lesions. All but 1 of these cysts disappeared after steroid treatment, but the remaining cyst in the pancreatic head was even somewhat larger 1 year later. Pancreatoduodenectomy was finally performed. Histology showed the wall of the cystic lesion to be fibrotic; the surrounding pancreatic tissue presented fibrosis, atrophy and lymphoplasmacytic infiltration by IgG4-positive cells, without malignant elements. Our case illustrates the rare possibility that cystic lesions can be part of AIP. These pseudocysts appear in the pancreatic segments involved in the autoimmune disease and can be a consequence of the local inflammation or related to ductal strictures. Steroid treatment should be initiated, after which these cysts can completely disappear with recovery from AIP. Surgical intervention may be necessary in some exceptional cases. PMID:26675058

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

    PubMed

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

    2016-03-01

    Non-cystic fibrosis bronchiectasis (NCFB) is an increasingly prevalent disease that places a significant burden on patients and health systems globally. Although many of the therapies used to treat NCFB were originally developed as cystic fibrosis (CF) therapies, not all of them have been demonstrated to be efficacious in NCFB and some may even be harmful. This article explores the evidence for which therapeutic strategies used to treat CF have been translated into the care of NCFB. The conclusion is that therapies for adult NCFB cannot be simply extrapolated from CF clinical trials, and in some instances, doing so may actually result in harm. PMID:26857775

  19. Poly Cystic Ovarian Syndrome: An Updated Overview

    PubMed Central

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

    2016-01-01

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

  20. Poly Cystic Ovarian Syndrome: An Updated Overview.

    PubMed

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

    2016-01-01

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

  1. [Historical compilation of cystic fibrosis].

    PubMed

    Navarro, Salvador

    2016-01-01

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

  2. Diagnostic Testing in Cystic Fibrosis.

    PubMed

    Brewington, John; Clancy, J P

    2016-03-01

    Cystic Fibrosis (CF) is a rare, multisystem disease leading to significant morbidity and mortality. CF is caused by defects in the cystic fibrosis transmembrane conductance regulator protein (CFTR), a chloride and bicarbonate transporter. Early diagnosis and access to therapies provides benefits in nutrition, pulmonary health, and cognitive ability. Several screening and diagnostic tests are available to support a diagnosis. We discuss the characteristics of screening and diagnostic tests for CF and guideline-based algorithms using these tools to establish a diagnosis. We discuss classification and management of common "diagnostic dilemmas," including the CFTR-related metabolic syndrome and other CFTR-associated diseases. PMID:26857766

  3. A case of transient cortical blindness associated with hypercapnia as a result of extremely enlarged adenoid tissue.

    PubMed

    Malbora, Baris; Malbora, Nihan; Avci, Zekai; Olgac, Asburce; Erkan, Alper Nabi

    2015-01-01

    Adenotonsillar hypertrophy is common among children, but it can lead to serious complications if left untreated. Among the well-known complications are obstructive sleep apnea syndrome, growth failure, cor pulmonale, and hypertension. One complication of adenotonsillar hypertrophy that has not been previously reported in the English-language literature is transient cortical blindness. We describe such a case, which occurred in a 6-year-old boy who presented with a sudden loss of vision and subsequent unconsciousness. He had experienced hypercapnia and was resuscitated via endotracheal tube ventilation. Laboratory and radiologic assessments found no pathology except for extremely enlarged adenoid tissue. Once the patient was stabilized, an urgent adenotonsillectomy was performed. The patient recovered well, and his vision and respiratory symptoms resolved. Severe hypertrophy of the adenoid tissue can cause hypercapnia and acidosis secondary to upper airway obstruction. The possibility of adenoid hypertrophy and hypercapnia should be kept in mind in cases of transient cortical blindness. Aggressive treatment, including early intubation and adenoidectomy, may lead to a rapid resolution of symptoms. PMID:25606839

  4. Increased percentage of T cells with the expression of CD127 and CD132 in hypertrophic adenoid in children with otitis media with effusion.

    PubMed

    Żelazowska-Rutkowska, Beata; Wysocka, Jolanta; Ratomski, Karol; Kasprzycka, Edwina; Skotnicka, Bożena

    2012-07-01

    The hypertrophic adenoid may promote chronic suppurative otitis media in children as it fulfills its immune function. The number of lymphocytes in the adenoid and their cooperation in the immune response depend of on their proliferation and migration to the effector sites. Interleukin 7 (IL-7) is essential for the normal development and function lymphocytes. IL-7 plays pivotal role for activation and proliferation of T and B cells. The heterodimeric interleukin-7 receptor (IL-7R) is composed of the IL-7Rα (127) and the common cytokine receptor γc (CD132). The aim of this study was to evaluate the percentage of lymphocytes T (CD4(+) and CD8(+)) with IL-7R (CD127 and CD132) expression in hypertrophic adenoid in children suffering with otitis media with effusion for a duration of 3 months. Adenoid excised due to hypertrophy with or without chronic otitis media with effusion was used as study material. CD4(+) CD127(+), CD4(+)132(+), CD8(+)CD127(+) and CD8(+)CD132(+) cell subpopulations were identified using monoclonal antibodies and flow cytometry. The percentage of CD4(+) and CD8(+) T cells with CD127 receptor expression in hypertrophic adenoid of children with otitis media with effusion was statistically significantly higher than in hypertrophic adenoid group. The percentage of CD4(+) T cells with CD132 expression in the study group was statistically significantly higher than in the reference group. The percentage of CD8(+) T cells with CD132(+) expression was not statistically different in both groups. The increased percentage of T lymphocytes with IL-7R expression (CD127 and CD132) in hypertrophic adenoid seems to influence the quantity of lymphocytes and upset the immunological function of tonsils which can influence the course of otitis media with effusion. PMID:22382400

  5. Cystic pineocytoma--case report.

    PubMed

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

    1992-03-01

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

  6. Cutaneous manifestations of cystic fibrosis.

    PubMed

    Bernstein, Megan L; McCusker, Meagen M; Grant-Kels, Jane M

    2008-01-01

    Cystic fibrosis is an autosomal recessive disease reported in 1 in 2500 live births in Northern American and Northern European Caucasian populations. Classic disease findings include chronic bacterial infection of airways and sinuses, malabsorption of fat, infertility in men, and elevated concentrations of chloride in sweat. Less well-recognized findings associated with cystic fibrosis include cutaneous findings, which can be primary or secondary manifestations of the disease process. Patients demonstrate more atopic and drug hypersensitivity reactions than the general population, but have similar rates of urticaria compared with the general population. In atypical presentations of cystic fibrosis, the nutrient deficiency dermatitis of the disease may aid with diagnosis, and notably can be the presenting sign. Other dermatologic manifestations of cystic fibrosis include early aquagenic skin wrinkling and cutaneous vasculitis, which can be associated with arthralgias. Familiarity with the nutrient deficiency dermatitis of this entity may play a role in the timely diagnosis of the disease, and the other cutaneous findings add to our understanding of the protean nature of its manifestations. PMID:18429769

  7. Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review

    PubMed Central

    Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

    2012-01-01

    Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. PMID:22905308

  8. [Therapeutic update in cystic fibrosis].

    PubMed

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

    2014-06-01

    We present the recent therapeutic advances in the cystic fibrosis care. It concerns improvements in symptomatic treatment with the development of dry powder inhaled antibiotics that improved quality of life, and innovative treatments namely the modulators of the cystic fibrosis transmembrane protein conductance regulator (CFTR), molecules which act specifically at the level of the defective mechanisms implied in the disease. The life expectancy of cystic fibrosis patients born after 2000, is estimated now to be about 50 years. This improvement of survival was obtained with the organization of the care within the specialized centers for cystic fibrosis (Centre de ressource et de compétences de la mucoviscidose) and remains still based on heavy symptomatic treatments. Dry powder inhaled antibiotics constitute a significant time saving for patients to whom all the care can achieve two hours daily. Since 2012, the modulators of CFTR, molecules allowing a pharmacological approach targeted according to the type of the mutations, allows a more specific approach of the disease. Ivacaftor (Kalydeco(®)) which potentialises the function of the CFTR protein expressed on the cellular surface is now available for patients with the G551D mutation. Lumacaftor is going to be tested in association with ivacaftor in patients with the F508del mutation, that is present in at least 75% of the patients. The ataluren which allows the production of a functional protein CFTR in patients with a no sense mutation is the third representing of this new therapeutic class. We presently have numerous symptomatic treatments for the cystic fibrosis care. The development of CFTR modulators, today available to a restricted number of patients treated with ivacaftor represents a very promising therapeutic avenue. It will represent probably the first step to a personalized treatment according to CFTR genotype. PMID:24309546

  9. A Prognostic Index for Predicting Lymph Node Metastasis in Minor Salivary Gland Cancer

    SciTech Connect

    Lloyd, Shane; Yu, James B.; Ross, Douglas A.; Wilson, Lynn D.; Decker, Roy H.

    2010-01-15

    Purpose: Large studies examining the clinical and pathological factors associated with nodal metastasis in minor salivary gland cancer are lacking in the literature. Methods and Materials: Using the Surveillance, Epidemiology, and End Results (SEER) database, we identified 2,667 minor salivary gland cancers with known lymph node status from 1988 to 2004. Univariate and multivariate analyses were conducted to identify factors associated with the use of neck dissection, the use of external beam radiation therapy, and the presence of cervical lymph node metastases. Results: Four hundred twenty-six (16.0%) patients had neck nodal involvement. Factors associated with neck nodal involvement on univariate analysis included increasing age, male sex, increasing tumor size, high tumor grade, T3-T4 stage, adenocarcinoma or mucoepidermoid carcinomas, and pharyngeal site of primary malignancy. On multivariate analysis, four statistically significant factors were identified, including male sex, T3-T4 stage, pharyngeal site of primary malignancy, and high-grade adenocarcinoma or high-grade mucoepidermoid carcinomas. The proportions (and 95% confidence intervals) of patients with lymph node involvement for those with 0, 1, 2, 3, and 4 of these prognostic factors were 0.02 (0.01-0.03), 0.09 (0.07-0.11), 0.17 (0.14-0.21), 0.41 (0.33-0.49), and 0.70 (0.54-0.85), respectively. Grade was a significant predictor of metastasis for adenocarcinoma and mucoepidermoid carcinoma but not for adenoid cystic carcinoma. Conclusions: A prognostic index using the four clinicopathological factors listed here can effectively differentiate patients into risk groups of nodal metastasis. The precision of this index is subject to the limitations of SEER data and should be validated in further clinical studies.

  10. Mesenteric cystic lymphangioma mimicking malignancy.

    PubMed

    Hureibi, Khalid; Sunidar, Osama A

    2014-01-01

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

  11. Mesenteric cystic lymphangioma mimicking malignancy

    PubMed Central

    Hureibi, Khalid; Sunidar, Osama A

    2014-01-01

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

  12. Pharmacogenetics of cystic fibrosis treatment.

    PubMed

    Carter, Suzanne C; McKone, Edward F

    2016-08-01

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

  13. [Cystic fibrosis and associated complications].

    PubMed

    Schwarz, C; Staab, D

    2015-03-01

    Cystic fibrosis (CF) is an autosomal recessive inherited metabolic disease. The mutation is located on the long arm of chromosome 7. Due to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, chloride ion transport is reduced across the cell membrane. As a result, the disease can be described as an exocrinopathy. In all organs with exocrine glands, disorders occur in association with the defective chloride transport. The main impact of this defect is manifested in the lungs. Therefore, the most common cause of death is pulmonary disease with respiratory insufficiency due to recurrent infections. Unfortunately, a cure for the disease is still not available. However, new therapies that may affect the CFTR mutation more specifically give new hope for better therapeutic options in the future. The long-term goal of therapy is to develop a causal therapy for all six different mutation classes and thus for about 2000 mutations. PMID:25693903

  14. Etanercept-induced cystic acne.

    PubMed

    Kashat, Maria; Caretti, Katherine; Kado, Jessica

    2014-07-01

    Tumor necrosis factor α antagonists are potent biologics used to treat a variety of autoimmune disorders such as rheumatoid arthritis, ankylosing spondylitis, Crohn disease, psoriasis, and psoriatic arthritis. These medications are known to have many side effects (eg, infusion reactions, cytopenia, risk for infection, heart failure); however, only a few cases of acne vulgaris have been associated with the use of these biologics, particularly infliximab and adalimumab. We report a rare case of etanercept-induced cystic acne. PMID:25101341

  15. [Imaging spinal cord cystic lesions in adults].

    PubMed

    Kremer, S; Bierry, G; Abu Eid, M; Bogorin, A; Koob, M; Zöllner, G; Dietemann, J L

    2007-05-01

    Intrarachidian cystic lesions are frequent, with highly varied causes. They can be classified according to their location into intramedullary cystic lesions and extramedullary cystic lesions. In these two categories, they can then be regrouped according to the tissue from which they develop. MRI is the first-choice examination for the study of the intracanal contents and the differential diagnosis between the various lesions. PMID:17541357

  16. Congenital Cystic Lesions of the Lung: Congenital Cystic Adenomatoid Malformation and Bronchopulmonary Sequestration

    PubMed Central

    Sfakianaki, Anna K; Copel, Joshua A

    2012-01-01

    Congenital cystic lesions of the lung in fetuses are rare. The most common malformations of the lower respiratory tract are congenital cystic adenomatoid malformation and bronchopulmonary sequestration. With the increased use of obstetric ultrasound, cystic lung lesions are detected more often antenatally, which allows for proper planning of peripartum and neonatal management. This article discusses a range of diagnostic and management options. PMID:22866187

  17. Cancer

    MedlinePlus

    ... Leukemia Liver cancer Non-Hodgkin lymphoma Ovarian cancer Pancreatic cancer Testicular cancer Thyroid cancer Uterine cancer ... have any symptoms. In certain cancers, such as pancreatic cancer, symptoms often do not start until the disease ...

  18. Cystic fibrosis presenting with bilateral facial palsy.

    PubMed

    Basu, Anna P; Kumar, Prashant; Devlin, Anita M; O'Brien, Christopher J

    2007-07-01

    A 15-week old male infant presented with bilateral lower motor neuron facial palsy of unknown cause. Subsequently his growth deteriorated and he developed progressively worsening cough and wheeze. A diagnosis of cystic fibrosis was confirmed and hypovitaminosis A detected. Improvement of the facial palsy was noted following standard management of cystic fibrosis including vitamin A supplementation. PMID:17287135

  19. A combination therapy for cystic fibrosis.

    PubMed

    Brodsky, Jeffrey L; Frizzell, Raymond A

    2015-09-24

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

  20. Cystic renal neoplasms and renal neoplasms associated with cystic renal diseases in adults: cross-sectional imaging findings.

    PubMed

    Katabathina, Venkata S; Garg, Deepak; Prasad, Srinivasa R; Vikram, Raghu

    2012-01-01

    Cystic renal neoplasms in adults are a heterogeneous group of tumors with characteristic histogenesis, pathological findings, and variable biological profiles. They include disparate entities that are either biologically benign (lymphangioma, cystic nephroma, and mixed epithelial and stromal tumor) or malignant (cystic renal cell carcinoma, multilocular cystic renal cell carcinoma, and primary renal synovial sarcoma). Renal cystic diseases are characterized by cystic changes of the kidneys due to hereditary, developmental, or acquired etiology. Cystic renal diseases such as acquired cystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis are associated with the development of a wide spectrum of benign and malignant renal neoplasms. Most cystic renal tumors and cystic disease-associated renal neoplasms show characteristic cross-sectional imaging findings that permit accurate diagnosis. In addition, cross-sectional imaging is pivotal in the follow-up and surveillance of adult cystic tumors of the kidney. PMID:23192202

  1. A Case of Mediastinal Cystic Lymphangioma.

    PubMed

    Suehisa, Hiroshi; Ueno, Tsuyoshi; Sawada, Shigeki; Yamashita, Motohiro; Teramoto, Norihiro

    2015-01-01

    A 35-year-old Japanese man's routine chest radiography revealed an abnormal opacity. Chest computed tomography and magnetic resonance imaging showed a 5.5 cm in dia. cystic tumor located at the left anterior mediastinum. The tumor was suspected to be an asymptomatic thymic cyst, and we chose observation for the tumor. At the 3-year follow up, the cystic tumor had gradually enlarged to 7.5 cm in dia. and we thus performed a surgical resection via left video-assisted thoracic surgery. An immunohistochemical analysis showed that the cystic tumor was not a thymic cyst but rather a mediastinal cystic lymphangioma. Mediastinal cystic lymphangiomas are very rare, and they are difficult to diagnose preoperatively. Complete surgical resection is proposed for the treatment of such tumors. PMID:26690247

  2. Calcified Cystic Lesion of the Pancreas.

    PubMed

    Li, Tao; Chen, Zhi-Qiang; Meng, Zhi-Xin; Hong, Jian-Guo; Zhi, Xu-Ting

    2016-06-01

    Pancreatic cystic lesion is a relatively uncommon condition with an estimated prevalence of 2 % in the general population. In the past two decades, there has been a dramatic increase in the prevalence of pancreatic cystic lesions because of the widespread use of high-resolution imaging, as well as the aging of the population. Pancreatic cystic lesions cover a wide spectrum of pathology and can range from obviously benign to borderline malignant potential lesions to overt malignancy. Though the presence of mural nodules, septa-like structures, or calcification on imaging examination contributes to the differential diagnosis, preoperatively determining the biological nature of these cystic lesions is sometimes challenging. In this paper, we report a rare case of pancreatic cystic lesion with an egg-shell like calcification. Complete resection was performed and histological examination confirmed the diagnosis of calcified pancreatic pseudocyst. PMID:26992398

  3. Endocrine Disorders in Cystic Fibrosis.

    PubMed

    Blackman, Scott M; Tangpricha, Vin

    2016-08-01

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

  4. Pancreatic pathophysiology in cystic fibrosis.

    PubMed

    Gibson-Corley, Katherine N; Meyerholz, David K; Engelhardt, John F

    2016-01-01

    The pancreas is one of the earliest, and most commonly affected, organs in patients with cystic fibrosis (CF). Studying the pathogenesis of pancreatic disease is limited in CF patients, due to its early clinical onset, co-morbidities and lack of tissue samples from the early phases of disease. In recent years, several new CF animal models have been developed that have advanced our understanding of both CF exocrine and endocrine pancreatic disease. Additionally, these models have helped us to better define the influence of pancreatic lesions on CF disease progression in other organs, such as the gastrointestinal tract and lung. PMID:26365583

  5. Pulmonary complications of cystic fibrosis.

    PubMed

    Ng, M Y; Flight, W; Smith, E

    2014-03-01

    The life expectancy of patients with cystic fibrosis (CF) has steadily increased over recent decades with a corresponding increase in the frequency of complications of the disease. Radiologists are increasingly involved with managing and identifying the pulmonary complications of CF. This article reviews the common manifestations of CF lung disease as well as updating radiologists with a number of less well-known complications of the condition. Early and accurate detection of the pulmonary effects of CF are increasingly important to prevent irreversible lung damage and give patients the greatest possibility of benefiting from the new therapies becoming available, which correct the underlying defect causing CF. PMID:24361142

  6. Cystic Lesions of the Mediastinum.

    PubMed

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

    2016-06-01

    Cystic lesions are commonly seen in the mediastinum, and they may arise from virtually any organ. The vast majority of these lesions are benign and result in no symptoms. When large, cysts may produce symptoms related to compression of adjacent structures. The most common mediastinal cysts are pericardial and foregut duplication cysts. Both computed tomography and magnetic resonance are routinely used to evaluate these lesions. Although computed tomography offers superior spatial resolution, magnetic resonance is useful in differentiating cysts that contain proteinaceous material from solid lesions. Occasionally, cysts arise from solid lesions, such as thymoma or teratoma. Although cysts are alike in appearance, location helps narrowing the differential diagnoses. PMID:27261346

  7. Prevalence, Diagnosis and Management of Pancreatic Cystic Neoplasms: Current Status and Future Directions

    PubMed Central

    Farrell, James J.

    2015-01-01

    Cystic neoplasms of the pancreas are found with increasing prevalence, especially in elderly asymptomatic individuals. Although the overall risk of malignancy is very low, the presence of these pancreatic cysts is associated with a large degree of anxiety and further medical investigation due to concerns about malignancy. This review discusses the different cystic neoplasms of the pancreas and reports diagnostic strategies based on clinical features and imaging data. Surgical and nonsurgical management of the most common cystic neoplasms, based on the recently revised Sendai guidelines, is also discussed, with special reference to intraductal papillary mucinous neoplasm (IPMN; particularly the branch duct variant), which is the lesion most frequently identified incidentally. IPMN pathology, its risk for development into pancreatic ductal adenocarcinoma, the pros and cons of current guidelines for management, and the potential role of endoscopic ultrasound in determining cancer risk are discussed. Finally, surgical treatment, strategies for surveillance of pancreatic cysts, and possible future directions are discussed. PMID:26343068

  8. Managing diabetes in cystic fibrosis.

    PubMed

    Laguna, T A; Nathan, B M; Moran, A

    2010-10-01

    Cystic fibrosis related diabetes (CFRD) is the most common co-morbidity in persons with cystic fibrosis (CF). As the life expectancy of persons with CF continues to increase, the need to proactively diagnose and aggressively treat CFRD and its potential complications has become more apparent. CFRD negatively impacts lung function, growth and mortality, making its diagnosis and management crucial in a population already at high risk for early mortality. Compared to type 1 and type 2 diabetes, CFRD is a unique entity, requiring a thorough understanding of its unique pathophysiology to facilitate the creation and utilization of an effective medical treatment plan. The physiology of CFRD is complex, likely consisting of a combination of insulin deficiency, insulin resistance and a genetic predisposition towards the development of diabetes. However, the hallmark of CFRD is insulin deficiency, necessitating the use of exogenous insulin as the mainstay of therapy. Insulin administration, in combination with a multidisciplinary team of health professionals with expertise in the care of patients with CF and CFRD, is the cornerstone of the care for these patients. The goals of treatment of the CFRD population are to reverse protein catabolism, maintain a healthy weight, and reduce acute and chronic diabetes complications. Creating a partnership between the treatment team and the patient is the ideal way to accomplish these goals and is essential for successful diabetes care. PMID:20920037

  9. Cystic Fibrosis: Brazilian ENT Experience

    PubMed Central

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

    2012-01-01

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

  10. Aspergillus infections in cystic fibrosis.

    PubMed

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

    2016-07-01

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

  11. Prevalence of Panton-Valentine leucocidin and phenotypic and genotypic characterization of biofilm formation among Staphylococcus aureus strains isolated from children with adenoid hypertrophy.

    PubMed

    Emaneini, Mohammad; Khoramrooz, Seyed Sajjad; Shahsavan, Shadi; Dabiri, Hossein; Jabalameli, Fereshteh

    2015-12-01

    Adenoids as a first line of host defense against respiratory microbes play an important role in majority of upper airway infectious and noninfectious illnesses. Bacterial pathogen can colonize on the adenoid tissue and probably act as a reservoir for them. To determine phenotypic and genotypic characterization of biofilm forming capacity of Staphylococcus aureus isolates from children with adenoid hypertrophy and prevalence of Panton-Valentine leukocidin (PVL) gene we collected 17 consecutive, clinically significant S. aureus isolates from children with adenoid hypertrophy undergoing adenoidectomy with one or more of the upper airway obstruction symptoms, nasal obstruction, mouth breathing, snoring, or sleep apnea. Biofilm formation was evaluated by colorimetric microtiter plate's assay. Gene encoding PVL and adhesion- or biofilm formation-encoding genes were targeted by polymerase chain reaction (PCR) assay. According to the results, all strains produced biofilm. Seven (41.2%) isolates produced strong biofilm whereas 7 (41.2%) isolates produced week and 3 (17.6%) isolates produced medium biofilm. Regarding the adhesion- or biofilm formation-encoding genes, 16 (94.1%) isolates were positive for the gene eno, 13(76.4%) for icaA, 13 (76.4%) for icaD, 10 (58.8%) for fib, 10 (58.8%) for fnbB, 4(23.5%) for can, and 1(5.8%) for fnbA. The high prevalence of genes encoding biofilms and adhesins and phenotypic ability to form a biofilm by S. aureus strains emphasizes the pathogenic character of strains isolated from children with adenoid hypertrophy. PMID:26476288

  12. Giant cystic pheochromocytoma: A silent entity

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-09-01

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

  14. Chronic pancreatitis and cystic fibrosis

    PubMed Central

    Witt, H

    2003-01-01

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

  15. Aspergillus bronchitis in cystic fibrosis.

    PubMed

    Shoseyov, David; Brownlee, Keith G; Conway, Steven P; Kerem, Eitan

    2006-07-01

    Aspergillus fumigatus, a widely distributed spore-bearing fungus, is commonly grown in sputum cultures of patients with cystic fibrosis (CF). A fumigatus may cause allergic bronchopulmonary aspergillosis (ABPA), a complex condition that leads to worsening of airway inflammation and progressive damage and is diagnosed by specific criteria. In this report, we present six CF patients with respiratory deterioration that did not respond to appropriate antibiotic treatment. All had had A fumigatus in sputum cultures but did not fulfill the criteria of ABPA. Treatment with antifungal agents was followed by improvement in clinical condition. We suggest that in patients with CF, A fumigatus should be considered as a pathogen that may directly cause respiratory exacerbations. Antifungal therapy should be considered when deteriorating respiratory function is not responding to antibacterial therapy and A fumigatus is growing in sputum cultures. PMID:16840406

  16. Biliary complications of cystic fibrosis.

    PubMed Central

    O'Brien, S; Keogan, M; Casey, M; Duffy, G; McErlean, D; Fitzgerald, M X; Hegarty, J E

    1992-01-01

    One hundred and four adult patients with cystic fibrosis were evaluated for the presence of liver disease as defined by abnormal liver function tests of six months' duration, histological evidence of fibrosis or cirrhosis, or the presence of portal hypertension, or both. Twenty patients fulfilled these criteria and were evaluated further for the presence of biliary tract abnormalities with biliary scintigraphy using 99Tc diisopropylphenyl-carboxymethyl iminodiacetic acid (DISIDA) and endoscopic retrograde cholangiography. Clearance of 99Tc DISIDA from the liver and biliary tree was diminished at 45 (E45) and 60 (E60) minutes in the patients with liver disease compared with those without liver disease; E45 = 37.8% and 65.8%, p less than 0.01; E60 = 48.2% and 77.5%, p less than 0.01 respectively. Serial analogue images of the extrahepatic biliary tree were consistent with common bile duct obstruction with retention of DISIDA and tapering of the common bile duct in seven of 18 patients with and two of 10 patients without liver disease. Endoscopic retrograde cholangiography showed changes consistent with sclerosing cholangitis, with beading and stricturing of the intrahepatic ducts in 12 of the 14 patients. In all 14 patients, including those in whom biliary scintigraphy had suggested obstruction, no abnormality of the common bile duct was identified. These results indicate that abnormalities of the bile ducts in patients with cystic fibrosis related liver disease are confined to the intrahepatic biliary tree and that common bile duct strictures do not contribute to either the progression or development of liver disease in these patients. Images Figure 2 PMID:1568661

  17. Epidural Cystic Spinal Meningioma: A Case Report.

    PubMed

    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. PMID:26986119

  18. [Epidemiology of cystic echinococcosis in the world].

    PubMed

    Tünger, Özlem

    2013-01-01

    The incidence and prevalence of cystic echinococcosis have fallen dramatically over the past several decades. Nonetheless, cystic echinococcosis remains a major public health issue in several countries and regions as a result of a reduction of control programmes due to economic problems. Geographic distribution differs by country and region depending on the presence of large numbers of nomadic or semi-nomadic sheep and goat flocks that represent the intermediate host of the parasite, and their close contact with the final host, the dog, which mostly provides the transmission of infection to humans. The greatest prevalence of cystic echinococcosis in human and animal hosts is found in countries of the temperate zones, including Mediterranean regions, southern and central parts of Russia, central Asia, China, Australia, South America and north and east Africa. In this article, the geographic distribution and epidemiology of cystic echinococcosis worldwide are reviewed. PMID:23619047

  19. Dasatinib in Treating Patients With Recurrent or Metastatic Malignant Salivary Gland Tumors

    ClinicalTrials.gov

    2016-05-26

    High-grade Salivary Gland Mucoepidermoid Carcinoma; Low-grade Salivary Gland Mucoepidermoid Carcinoma; Recurrent Salivary Gland Cancer; Salivary Gland Acinic Cell Tumor; Salivary Gland Adenocarcinoma; Salivary Gland Adenoid Cystic Carcinoma; Salivary Gland Anaplastic Carcinoma; Salivary Gland Malignant Mixed Cell Type Tumor; Salivary Gland Poorly Differentiated Carcinoma; Salivary Gland Squamous Cell Carcinoma; Stage IV Salivary Gland Cancer

  20. [Renal failure and cystic kidney diseases].

    PubMed

    Correas, J-M; Joly, D; Chauveau, D; Richard, S; Hélénon, O

    2011-04-01

    Cystic kidney diseases often are discovered at the time of initial work-up of renal failure through ultrasound or family history, or incidentally at the time of an imaging test. Hereditary diseases include autosomal dominant or recessive polycystic kidney disease (PKD), tuberous sclerosis (TS) and medullary cystic kidney disease (MCKD). Autosomal dominant PKD is characterized by large renal cysts developing in young adults. Renal failure is progressive and becomes severe around 50-60 years of age. Atypical cysts (hemorrhagic or hyperdense) are frequent on CT and MRI examinations. Imaging plays a valuable role in the management of acute complications such as cyst hemorrhage or infection. Autosomal recessive PKD is often detected in neonates, infants or young adults. It is characterized by renal enlargement due to the presence of small cysts and liver disease (fibrosis and biliary ductal dilatation). Late manifestation or slow progression of autosomal recessive PKD may be more difficult to distinguish from autosomal dominant PKD. These cystic kidney diseases should not be confused with non-hereditary incidental multiple renal cysts. In tuberous sclerosis, renal cysts are associated with angiomyolipomas and sometimes pulmonary lymphangioleiomyomatosis. Renal failure is inconstant. Other hereditary cystic kidney diseases, including MCKD and nephronophtisis, are usually associated with renal failure. Non-hereditary cystic kidney diseases include multicystic renal dysplasia (due to complete pelvi-ureteric atresia or hydronephrosis), acquired multicystic kidney disease (chronic renal failure, chronic hemodialysis) and varied cystic kidney diseases (multicystic renal disease, glomerulocystic kidney disease, microcystic kidney disease). PMID:21549887

  1. Cystic fibrosis from the gastroenterologist's perspective.

    PubMed

    Ooi, Chee Y; Durie, Peter R

    2016-03-01

    Cystic fibrosis is a life-limiting, recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Increased survival outcomes and the multisystem nature of the disease, including the involvement of hepatobiliary and gastrointestinal tracts, now require the need for more extensive knowledge and expertise in cystic fibrosis among gastroenterologists. Manifestations are either a direct consequence of the primary defect in cystic fibrosis or a secondary complication of the disease or therapy. Adult patients with cystic fibrosis also have an increased risk of malignancy in the gastrointestinal and pancreatico-biliary tracts compared with the general population. Novel treatments that target the basic defects in the CFTR protein have emerged, but to date not much is known about their effects on the gastrointestinal and hepatobiliary systems. The introduction of such therapies has provided new opportunities for the application of intestinal endpoints in clinical trials and the understanding of underlying disease mechanisms that affect the gut in cystic fibrosis. PMID:26790364

  2. Cancer

    MedlinePlus

    ... body. Cancerous cells are also called malignant cells. Causes Cancer grows out of cells in the body. Normal ... of many cancers remains unknown. The most common cause of cancer-related death is lung cancer. In the U.S., ...

  3. Abnormal Ion Permeation through Cystic Fibrosis Respiratory Epithelium

    NASA Astrophysics Data System (ADS)

    Knowles, M. R.; Stutts, M. J.; Spock, A.; Fischer, N.; Gatzy, J. T.; Boucher, R. C.

    1983-09-01

    The epithelium of nasal tissue excised from subjects with cystic fibrosis exhibited higher voltage and lower conductance than tissue from control subjects. Basal sodium ion absorption by cystic fibrosis and normal nasal epithelia equaled the short-circuit current and was amiloride-sensitive. Amiloride induced chloride ion secretion in normal but not cystic fibrosis tissue and consequently was more effective in inhibiting the short-circuit current in cystic fibrosis epithelia. Chloride ion-free solution induced a smaller hyperpolarization of cystic fibrosis tissue. The increased voltage and amiloride efficacy in cystic fibrosis reflect absorption of sodium ions across an epithelium that is relatively impermeable to chloride ions.

  4. [The tonsils and adenoids as a site of infection and the cause of obstruction].

    PubMed

    Battistini, A; Siepe, F; Marvasi, R

    1998-01-01

    The failure to eradicate group A beta-hemolytic streptococci from the pharynx is partly due to a low compliance, but above all, an alteration of the oropharyngeal microbiological flora: reduction of alpha-haemolytic streptococci which inhibit group A beta-hemolytic streptococci and increase of microorganisms such as Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis. These latter act indirectly destroying the beta-lactamic ring of penicillins. However, this obstacle is overcome by the use of antibiotics which do not contain beta-lactamic rings such as macrolides or associating amoxicillin with clavulanic acid or with new cephalosporins which are more resistant to beta lactamases. To restrict the diffusion of resistance to antibiotics, it is essential to limit their use diagnosing streptococcal tonsillopharyngitis more precisely, thanks to an improved use of micro-biological diagnostic tests and by a more extended use of tonsillectomy in recurrent tonsillitis (more than 6-7 in 1-2 years). Adenoiditis is closely related to the post nasal drip syndrome, to recurrent otitis media and to otitis media with effusion. All these situations could, therefore, represent an indication, although not well defined, for adenoidectomy. Nasopharyngeal obstruction due to adeno-tonsillar hypertrophy becomes critical during sleep when the hypotony of the upper airway muscles becomes additional to the anatomical obstruction. At this point the inspiratory effort required and the consequent decrease of intra airway pressure increase the pharyngeal obstruction suctioning the pharyngeal walls toward the median line. The resulting clinical picture is defined as sleep-disordered breathing (SDB) due to adenotonsillar hypertrophy (idiopathic), to be distinguished from SDB due to cranio-facial abnormalities or neuromuscular diseases. SDB includes both the more serious sleep apnea syndrome and the less severe upper airway respiratory resistance syndrome. A combination of

  5. Laparoscopic resection of an intra-abdominal cystic mass: a cystic mesothelioma

    PubMed Central

    Birch, Daniel W.; Park, Adrian; Chen, Vicki

    1998-01-01

    The clinical features of a patient with an intra-abdominal cystic mass do not lead to a specific diagnosis. Aspiration is usually ineffective because the mass recurs and cytologic investigation is often non-diagnostic. Conservative management is unsuccessful because symptoms often persist. Surgical management of cystic masses is required for definitive management and pathologic diagnosis. A laparoscopic approach to the diagnosis and treatment can provide essential anatomic information and a complete resection with minimal morbidity. A laparoscopic technique using 3 trocars and maintaining the integrity of the mass allows complete excision and removal of large intra-abdominal cystic masses as reported in a 43-year-old patient with a large intra-abdominal cystic mass identified as a benign cystic mesothelioma. PMID:9576001

  6. Intensity-Modulated or Proton Radiation Therapy for Sinonasal Malignancy

    ClinicalTrials.gov

    2016-02-10

    Adenoid Cystic Carcinoma; Squamous Cell Carcinoma; Sinonasal Carcinoma; Sinonasal Undifferentiated Carcinoma; Mucoepidermoid Carcinoma; Schneiderian Carcinoma; Myoepithelial Carcinoma; Esthesioneuroblastoma; Melanoma

  7. Surgical outcome in cystic vestibular schwannomas

    PubMed Central

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

    2016-01-01

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

  8. Antibiotic allergy in cystic fibrosis.

    PubMed

    Parmar, J S; Nasser, S

    2005-06-01

    Allergic reactions to antibiotics are more common in cystic fibrosis (CF) than in the general population. This in part is due to the improving survival in adults with CF and the increased use of high dose intravenous antibiotics. While some are immediate anaphylaxis type (IgE mediated) reactions, the majority are late onset and may have non-specific features such as rash and fever. Piperacillin has consistently been found to have the highest rate of reported reactions (30-50%). There is a low risk of cross reactions between penicillins and other non-beta-lactam classes of antibiotics in penicillin skin prick positive patients. Carbapenems should only be used with extreme caution in patients with positive skin prick tests to penicillin. However, aztreonam can be used safely in patients who are penicillin allergic with positive skin prick reactions. The aminoglycosides are a relatively uncommon cause of allergic reactions, but patients who react to one member of the family may cross react with other aminoglycosides. Desensitisation relies on the incremental introduction of small quantities of the allergen and has been used for penicillins, ceftazidime, tobramycin and ciprofloxacin and must be repeated before each course. Personalized cards should be regularly updated for patients who develop allergic reactions. Written instructions on the emergency treatment of allergic reactions should be provided to patients self-administering intravenous antibiotics at home. Further research is required to identify risk factors and predictors for antibiotic allergy. PMID:15923254

  9. Evaluation of hepatic cystic lesions.

    PubMed

    Lantinga, Marten A; Gevers, Tom J G; Drenth, Joost P H

    2013-06-21

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

  10. Respiratory Conditions Update: Cystic Fibrosis.

    PubMed

    Pritchard, Lyle L

    2016-09-01

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

  11. Lung Transplantation for Cystic Fibrosis

    PubMed Central

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

    2009-01-01

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

  12. Postoperative recurrence of cystic hydatidosis

    PubMed Central

    Prousalidis, John; Kosmidis, Christophoros; Anthimidis, Georgios; Kapoutzis, Konstantinos; Karamanlis, Eleutherios; Fachantidis, Epaminondas

    2012-01-01

    Background Surgical management is the basic treatment for hydatid disease. Overall, the recurrence rate appears to be high (4.6%–22.0%). The purpose of this study was to report our results in the management of recurrent hydatid disease, evaluating the methods for identifying recurrence, prognostic factors and therapeutic options. Methods We retrospectively reviewed the medical records of patients who underwent surgery for cystic hydatidosis between 1970 and 2003. Results Of the 584 patients who underwent surgery during our study period, follow-up was complete for 484 (82.8%). Cysts recurred in 51 patients (8.7%). Abdominal ultrasonography and computed tomography appeared to be efficient for diagnosing recurrence. The 2 most important determinants for recurrence were minute spillage of the hydatid cyst and inadequate treatment owing to missing cysts or incomplete pericystectomy. All but 2 recurrences required surgery. There were 14 postoperative complications for a rate of 27.0%. Thirteen re-recurrences were observed in the follow-up of these patients and also required surgery. Conclusion Avoidance of minute spillage of cyst contents and cautious removal of the parasite with as much of the pericyst as possible are fundamental objectives of primary hydatid surgery. Conservative surgery (removal of the cyst contents plus partial pericystectomy with drainage when necessary) plus chemotherapy and local sterilization is suggested for both primary and secondary operations and appears to achieve satisfactory long-term results. Radical surgery (resection, cystopericystectomy) is preferred only in select patients. PMID:21939605

  13. Infection Control in Cystic Fibrosis

    PubMed Central

    Saiman, Lisa; Siegel, Jane

    2004-01-01

    Over the past 20 years there has been a greater interest in infection control in cystic fibrosis (CF) as patient-to-patient transmission of pathogens has been increasingly demonstrated in this unique patient population. The CF Foundation sponsored a consensus conference to craft recommendations for infection control practices for CF care providers. This review provides a summary of the literature addressing infection control in CF. Burkholderia cepacia complex, Pseudomonas aeruginosa, and Staphylococcus aureus have all been shown to spread between patients with CF. Standard precautions, transmission-based precautions including contact and droplet precautions, appropriate hand hygiene for health care workers, patients, and their families, and care of respiratory tract equipment to prevent the transmission of infectious agents serve as the foundations of infection control and prevent the acquisition of potential pathogens by patients with CF. The respiratory secretions of all CF patients potentially harbor clinically and epidemiologically important microorganisms, even if they have not yet been detected in cultures from the respiratory tract. CF patients should be educated to contain their secretions and maintain a distance of >3 ft from other CF patients to avoid the transmission of potential pathogens, even if culture results are unavailable or negative. To prevent the acquisition of pathogens from respiratory therapy equipment used in health care settings as well as in the home, such equipment should be cleaned and disinfected. It will be critical to measure the dissemination, implementation, and potential impact of these guidelines to monitor changes in practice and reduction in infections. PMID:14726455

  14. Cell therapy for cystic fibrosis.

    PubMed

    Murphy, Sean V; Atala, Anthony

    2015-03-01

    Currently there is no cure for cystic fibrosis (CF). Treatments are focused on addressing the disease symptoms, with varying degrees of success. Regenerative medicine holds the promise of regenerating dysfunctional or damaged tissues and to enhance the body's own endogenous repair mechanisms. The discovery of endogenous and exogenous stem cells has provided valuable tools for development of novel treatments for CF. The ability of stem cells to differentiate into functional pulmonary cells, modulate inflammatory responses and contribute to pulmonary function has provided researchers with multiple approaches to develop effective treatment strategies. Several approaches show promise to produce viable therapeutic treatments to treat the underlying cause of CF, reduce the symptoms and mitigate long-term damage, and generate functional replacement organs for end-stage transplantation. This review provides an overview of the rapidly progressing field of cell therapy for CF, focusing on the various cell types utilized and current strategies that show promise to improve life expectancy and quality of life for CF patients. PMID:23894126

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

    PubMed

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

    2015-08-01

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

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

    MedlinePlus

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

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

    ERIC Educational Resources Information Center

    Goldberg, Richard T.; And Others

    1980-01-01

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

  18. Cystic Meningioma Masquerading as a Metastatic Tumor: A Case Report.

    PubMed

    Ramanathan, Nithya; Kamaruddin, Khairul Azmi; Othman, Aizzat; Mustafa, Fadhli; Awang, Mohamed Saufi

    2016-05-01

    Cystic meningioma is a rare form of intracranial meningioma. Meningiomas are typically solid tumors but may rarely have cystic components. The diagnosis of cystic meningioma is clinically challenging as the finding of multiple intra-axial tumors, including metastatic tumors, is relatively common. We report a case of cystic meningioma initially diagnosed as a metastatic tumor from a recurrence of acute lymphoid leukemia. However, postoperative histopathological examination demonstrated an atypical meningioma. PMID:27418876

  19. Cystic Meningioma Masquerading as a Metastatic Tumor: A Case Report

    PubMed Central

    Ramanathan, Nithya; Kamaruddin, Khairul Azmi; Othman, Aizzat; Mustafa, Fadhli; Awang, Mohamed Saufi

    2016-01-01

    Cystic meningioma is a rare form of intracranial meningioma. Meningiomas are typically solid tumors but may rarely have cystic components. The diagnosis of cystic meningioma is clinically challenging as the finding of multiple intra-axial tumors, including metastatic tumors, is relatively common. We report a case of cystic meningioma initially diagnosed as a metastatic tumor from a recurrence of acute lymphoid leukemia. However, postoperative histopathological examination demonstrated an atypical meningioma.

  20. Multilocular cystic renal tumor in children: radiologic-pathologic correlation.

    PubMed

    Agrons, G A; Wagner, B J; Davidson, A J; Suarez, E S

    1995-05-01

    Multilocular cystic renal tumor is a term that encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN). Cystic nephroma is a segmental, purely cystic mass characterized by multiple septations composed entirely of differentiated tissues, without blastemal elements. CPDN is also a multiloculated lesion without nodular solid components, but its septa contain embryonal cells. Multilocular cystic tumors primarily affect boys during early childhood, with a substantial number of the lesions containing blastema (CPDN), and adult women, with lesions that more commonly lack septal blastema (cystic) nephroma). As a rule, nephrectomy is curative and the clinical course benign, but CPDN may recur locally. Although cystic nephroma and CPDN cannot be distinguished radiologically, failure to do so has no practical impact on management, since all of these tumors are surgically removed. However, the differential diagnosis includes other pediatric cystic renal masses that may require different treatment stratagems: Wilms tumor with cyst formation due to hemorrhage and necrosis, cystic clear cell sarcoma, cystic mesoblastic nephroma, cystic renal cell carcinoma, multicystic dysplastic kidney, and segmental multicystic dysplasia in a duplicated renal collecting system. PMID:7624570

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

    ERIC Educational Resources Information Center

    Cystic Fibrosis Foundation, Atlanta, GA.

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

  2. Acute Scedosporium apiospermum Endobronchial Infection in Cystic Fibrosis.

    PubMed

    Padoan, Rita; Poli, Piercarlo; Colombrita, Domenico; Borghi, Elisa; Timpano, Silviana; Berlucchi, Marco

    2016-06-01

    Fungi are known pathogens in cystic fibrosis patients. A boy with cystic fibrosis boy presented with acute respiratory distress. Bronchoscopy showed airways obstruction by mucus plugs and bronchial casts. Scedosporium apiospermum was identified as the only pathogen. Bronchoalveolar lavage successfully resolved the acute obstruction. Plastic bronchitis is a new clinical picture of acute Scedosporium endobronchial colonization in cystic fibrosis patients. PMID:26967814

  3. Do brine shrimp diagnose cystic fibrosis?

    PubMed

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

    1975-11-01

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

  4. Unique origin of the cystic artery.

    PubMed

    Hlaing, K P P; Thwin, S S; Shwe, N

    2011-12-01

    The cystic artery (CA) is known to exhibit variations in its origin and branching pattern. This is attributed to the developmental changes occurring in the primitive ventral splanchnic arteries. During routine dissection of a male cadaver, we observed that the CA originated from the middle hepatic artery (MHA) at a distance of about 1 cm from its origin, and the MHA originated from the right hepatic artery at a distance of 2.1 cm from its origin. The CA traversed for a distance of 1.5 cm, giving off a branch to the cystic duct. It then passed anterior to the cystic duct. The origin of the CA was located to the left of the common hepatic duct, outside the Calot's triangle. The topographical anatomy of the arterial system of the hepatobiliary region and their anomalous origin should be considered during hepatobiliary surgeries. This knowledge is also important for interventional radiologists in routine clinical practice. PMID:22159949

  5. Cystic Fibrosis Transmembrane Conductance Regulator

    PubMed Central

    Smith, Stephen S.; Steinle, Erich D.; Meyerhoff, Mark E.; Dawson, David C.

    1999-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) Cl channel exhibits lyotropic anion selectivity. Anions that are more readily dehydrated than Cl exhibit permeability ratios (PS/PCl) greater than unity and also bind more tightly in the channel. We compared the selectivity of CFTR to that of a synthetic anion-selective membrane [poly(vinyl chloride)–tridodecylmethylammonium chloride; PVC-TDMAC] for which the nature of the physical process that governs the anion-selective response is more readily apparent. The permeability and binding selectivity patterns of CFTR differed only by a multiplicative constant from that of the PVC-TDMAC membrane; and a continuum electrostatic model suggested that both patterns could be understood in terms of the differences in the relative stabilization of anions by water and the polarizable interior of the channel or synthetic membrane. The calculated energies of anion–channel interaction, derived from measurements of either permeability or binding, varied as a linear function of inverse ionic radius (1/r), as expected from a Born-type model of ion charging in a medium characterized by an effective dielectric constant of 19. The model predicts that large anions, like SCN, although they experience weaker interactions (relative to Cl) with water and also with the channel, are more permeant than Cl because anion–water energy is a steeper function of 1/r than is the anion–channel energy. These large anions also bind more tightly for the same reason: the reduced energy of hydration allows the net transfer energy (the well depth) to be more negative. This simple selectivity mechanism that governs permeability and binding acts to optimize the function of CFTR as a Cl filter. Anions that are smaller (more difficult to dehydrate) than Cl are energetically retarded from entering the channel, while the larger (more readily dehydrated) anions are retarded in their passage by “sticking” within the channel. PMID:10578016

  6. Drug disposition in cystic fibrosis.

    PubMed

    Rey, E; Tréluyer, J M; Pons, G

    1998-10-01

    There are many pathological changes in patients with cystic fibrosis (CF) which can lead to alterations in drug disposition. Although, in patients with CF, the extent of drug absorption varies widely and the rate of absorption is slower, bioavailability is not altered. Plasma protein binding for the majority of drugs studied did not differ in patients with CF compared with control groups. The difference in volume of distribution of most drugs between patients with CF and healthy individuals vanished when corrected for lean body mass. Despite hepatic dysfunction, patients with CF have enhanced clearance of many, but not all, drugs. Phase I mixed-function oxidases are selectively affected: cytochrome P450 (CYP) 1A2 and CYP2C8 have enhanced activity, while other CYP isoforms such as CYP2C9 and CYP3A4 are unaffected. Increased phase II activities are also demonstrated: glucuronyl transferase, acetyl transferase (NAT1) and sulfotransferase. The increased hepatic clearance of drugs in the presence of CF may be the consequence of disease-specific changes in both enzyme activity and/or drug transport within the liver. The renal clearance (CLR) of many drugs in patients with CF is enhanced although there has been no pathological abnormality identified which could explain this finding: glomerular filtration rate and tubular secretion appear normal in patients with CF. The precise mechanisms for enhanced drug clearance in patients with CF remain to be elucidated. The optimisation of antibiotic therapy in patients with CF includes increasing the dose of beta-lactams by 20 to 30% and monitoring plasma concentrations of aminoglycosides. The appropriate dosage of quinolones has not been definitively established. PMID:9812180

  7. Management issues for adolescents with cystic fibrosis.

    PubMed

    Withers, Adelaide Lindsay

    2012-01-01

    The healthy adolescent will encounter major changes in biological and psychosocial domains. The adolescent period can be greatly affected by a chronic illness. Cystic fibrosis is a terminal illness that can significantly affect an adolescent's biological, mental and psychosocial health. This paper discusses general issues to consider when managing an adolescent with a chronic medical condition, and specifically how cystic fibrosis may impact upon puberty, body image, risk-taking behaviours, mental health, independence, nonadherence, reproductive health, transition, lung transplantation, and end of life care. PMID:22991662

  8. Cardiac lymphangioma presenting as intrapericardial cystic mass

    PubMed Central

    Lone, Nazir A.; Naikoo, Bashir A.; Khan, Naseer A.

    2016-01-01

    Cystic lymphangioma usually confined to head and neck is a well-recognized tumor that occurs during childhood. However, a cardiac lymphangioma is exceptionally uncommon and a particularly rare form of disease. We report a case of cystic lymphangioma arising from the right ventricular wall, and presenting as pericardial mass in a young female, who presented with a history of exercise intolerance in the form of breathlessness on exertion and palpitations. The management of such a case was a difficult task; however, she underwent near total resection of the mass, and is doing well for the last 2 years. PMID:26739981

  9. Cystic fibrosis, intravenous antibiotics, and home therapy.

    PubMed

    Hammond, L J; Caldwell, S; Campbell, P W

    1991-01-01

    The survival rate of patients with cystic fibrosis has improved considerably in the last 20 years. Although not all of the factors accounting for this change are understood, aggressive nutritional management and treatment of pulmonary exacerbations certainly play a role. Home intravenous (IV) antibiotic delivery for pulmonary exacerbation has proved to be as effective as hospital treatment and offers significant advantages to the patient and family. This article examines the microbiology of pulmonary infections in patients with cystic fibrosis, as well as antimicrobial therapy, methods of IV administration, home IV therapy, and the nurse practitioner's role in this home program in the future. PMID:1990112

  10. Diagnosis of Adult Patients with Cystic Fibrosis.

    PubMed

    Nick, Jerry A; Nichols, David P

    2016-03-01

    The diagnosis of cystic fibrosis (CF) is being made with increasing frequency in adults. Patients with CF diagnosed in adulthood typically present with respiratory complaints, and often have recurrent or chronic airway infection. At the time of initial presentation individuals may appear to have clinical manifestation limited to a single organ, but with subclinical involvement of the respiratory tract. Adult-diagnosed patients have a good response to CF center care, and newly available cystic fibrosis transmembrane receptor-modulating therapies are promising for the treatment of residual function mutation, thus increasing the importance of the diagnosis in adults with unexplained bronchiectasis. PMID:26857767

  11. Precision Genomic Medicine in Cystic Fibrosis.

    PubMed

    Chang, Eugene H; Zabner, Joseph

    2015-10-01

    The successful application of precision genomic medicine requires an understanding of how a person's genome can influence his or her disease phenotype and how medical therapies can provide personalized therapy to one's genotype. In this review, we highlight advances in precision genomic medicine in cystic fibrosis (CF), a classic autosomal recessive genetic disorder. We discuss genotype-phenotype correlations in CF, genetic and environmental modifiers of disease, and pharmacogenetic therapies that target specific genetic mutations thereby addressing the primary defect of cystic fibrosis. PMID:26073768

  12. Genetics of Cystic Fibrosis: Clinical Implications.

    PubMed

    Egan, Marie E

    2016-03-01

    Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder caused by mutations in the gene that encodes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). Almost 2000 variants in the CFTR gene have been identified. The mutational classes are based on the functional consequences on CFTR. New therapies are being developed to target mutant CFTR and restore CFTR function. Understanding specific CF genotypes is essential for providing state-of-the art care to patients. In addition to the variation in CFTR genotype, there are several modifier genes that contribute to the respiratory phenotype. PMID:26857764

  13. Zinc supplementation in children with cystic fibrosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  14. Nutritional assessment in children with cystic fibrosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  15. [Macrolides, Pseudomonas aeruginosa and cystic fibrosis].

    PubMed

    Guillot, M; Amiour, M; El Hachem, C; Harchaoui, S; Ribault, V; Paris, C

    2006-10-01

    Long-term low dose azithromycin treatment in cystic fibrosis patients with chronic Pseudomonas aeruginosa infection is safe and reduces the decline in lung function, the number of acute exacerbations and improves nutritional status; underlying efficacy mechanisms are multiple and synergistic. PMID:17370396

  16. Diabetes mellitus in patients with cystic fibrosis.

    PubMed

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

    2007-01-01

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

  17. Cystic lesion around the hip joint.

    PubMed

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

    2015-10-18

    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

  18. Cystic lesion around the hip joint

    PubMed Central

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

    2015-01-01

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

  19. Cystic Renal Disease in the Domestic Ferret

    PubMed Central

    Jackson, Courtnye N; Rogers, Arlin B; Maurer, Kirk J; Lofgren, Jennifer LS; Fox, James G; Marini, Robert P

    2008-01-01

    Cystic renal diseases in domestic ferrets are a common anecdotal finding but have received scant systematic assessment. We performed a 17-y, case-control retrospective analysis of the medical records of 97 ferrets housed at our institution between 1987 and 2004, to determine the prevalence and morphotypes of cystic renal diseases in this species. Histologic sections stained with hematoxylin and eosin, Masson trichrome, or periodic acid–Schiff were evaluated by a comparative pathologist, and statistical analysis of hematologic and serum chemistry values was correlated with morphologic diagnosis. Of the 97 available records, 43 were eliminated due to lack of accompanying tissues. Of the 54 remaining cases, 37 (69% prevalence) had documented renal cysts, and 14 of the 54 ferrets (26%) had primary polycystic disease consisting of either polycystic kidney disease affecting renal tubules or, more commonly, glomerulocystic kidney disease. Secondary polycystic lesions were identified in 11 ferrets (20%), and 12 ferrets (22%) exhibited focal or isolated tubular cysts only as an incidental necropsy finding. Ferrets with secondary renal cysts associated with other developmental anomalies, mesangial glomerulopathy, or end-stage kidney disease had hyperphosphatemia and elevated BUN in comparison with those with primary cystic disease and elevated BUN compared with those without renal lesions. Although reflecting institutional bias, these results implicate primary and secondary cystic renal diseases as highly prevalent and underreported in the domestic ferret. In addition to the clinical implications for ferrets as research subjects and pets, these findings suggest a potential value for ferrets as a model of human cystic renal diseases. PMID:18524174

  20. Nutrient Status of Adults with Cystic Fibrosis

    PubMed Central

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

    2011-01-01

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

  1. Cancer

    MedlinePlus

    ... your life Being exposed to chemicals that can cause cancer Being at risk for skin cancer Depending on ... than nonsmokers. Other forms of tobacco can also cause cancer, such as cigars, chewing tobacco and snuff. If ...

  2. Endoscopic Ultrasound-Guided Treatment of Pancreatic Cystic and Solid Masses

    PubMed Central

    2015-01-01

    Pancreatic tumor is one of the most difficult diseases to diagnose and treat because of its anatomical location and characteristics. Recently, there have been several innovative trials on the treatment of pancreatic tumors using endoscopic ultrasound (EUS) because it allows selective access to the difficult to reach target organ along the gastrointestinal tract and can differentiate vessels by color Doppler. Among these trials, several have investigated EUS-guided ethanol lavage with or without paclitaxel for pancreatic cystic tumors. These studies show a 33% to 79% complete resolution rate with a favorable safety profile. Compared to EUS-guided ethanol lavage for pancreatic cystic tumors, EUS-guided radiofrequency ablation is considered a less invasive treatment method for pancreatic cancer. Although there are still several difficulties and concerns about complications, one clinical study reported 72.8% feasibility with favorable safety, and therefore, we anticipate the results of ongoing studies with these new less invasive techniques. PMID:26240804

  3. Systemic inflammatory mediators and cystic fibrosis genotype.

    PubMed

    Augarten, A; Paret, G; Avneri, I; Akons, H; Aviram, M; Bentur, L; Blau, H; Efrati, O; Szeinberg, A; Barak, A; Kerem, E; Yahav, J

    2004-10-01

    Morbidity and mortality in cystic fibrosis patients is mainly attributed to pulmonary infection and inflammation. Chemokines play a pivotal role in the inflammatory process. Although genotype-phenotype correlation in cystic fibrosis patients has been defined, a clear relationship between the defect in the cystic fibrosis transmembrane regulator (CFTR) gene and pulmonary inflammation has not been established. The aim of this study was to assess whether serum chemokines levels in cystic fibrosis patients correlate with genotype and pulmonary function tests, as well as with other clinical characteristics. Serum levels of interleukin-8, RANTES, and monocyte chemoattractant protein-1 were measured in 36 cystic fibrosis patients grouped according to their genotype. Group A included 25 patients who carried two mutations associated with a pathological sweat test and pancreatic insufficiency (deltaF508, W1282X, G542X, N1303K, S549R). Group B included 11 compound heterozygote patients who carried one mutation known to cause mild disease with borderline or normal sweat test and pancreatic sufficiency (3849+10kb C to T, 5T). Associations between chemokine levels, genotype, pulmonary function, Pseudomonas aeruginosa colonization, age, sweat chloride level, and pancreatic and nutritional status were examined. Mean interleukin-8 and monocyte chemoattractant protein-1 levels were significantly higher in group A than group B (11.4 +/- 2.1 pg/ml vs. 5 +/- 0.9 pg/ml and 157 +/- 16 pg/ml vs. 88.8 +/- 16.4 pg/ml, respectively) (P < 0.01). No difference in RANTES levels were found between groups. interleukin-8 levels were inversely related to forced expiratory volume in 1 s (r = -0.37, P < 0.02), while there was no association between the latter and RANTES and monocyte chemoattractant protein-1 levels. The Pseudomonas colonization rate was higher among group A patients than group B (88% vs. 40%, P < 0.01). No relationship was found between measured chemokines and age, sweat chloride

  4. Detection of Circulating Pancreas Epithelial Cells in Patients with Pancreatic Cystic Lesions

    PubMed Central

    Rhim, Andrew D.; Thege, Fredrik I.; Santana, Steven M.; Lannin, Timothy B.; Saha, Trisha N.; Tsai, Shannon; Maggs, Lara R.; Kochman, Michael L.; Ginsberg, Gregory G.; Lieb, John G.; Chandrasekhara, Vinay; Drebin, Jeffrey A.; Ahmad, Nuzhat; Yang, Yu-Xiao; Kirby, Brian J.; Stanger, Ben Z.

    2014-01-01

    Hematogenous dissemination is thought to be a late event in cancer progression. We showed recently that pancreas cells can be detected in the bloodstream before tumor formation, in a genetic model of pancreatic ductal adenocarcinoma (PDAC). To confirm these findings in humans, we used microfluidic geometrically enhanced immunocapture to detect circulating pancreas epithelial cells (CECs) in patient blood samples. We captured >3 CECs/ml in 7 of 21 (33%) of patients with cystic lesions and no clinical diagnosis of cancer (Sendai criteria negative), 8 of 11 (73%) with PDAC, and in 0 of 19 patients without cysts or cancer (controls). These findings indicate that cancer cells are present in the circulation of patients before tumors develop, which might be used in risk assessment. PMID:24333829

  5. Detection of circulating pancreas epithelial cells in patients with pancreatic cystic lesions.

    PubMed

    Rhim, Andrew D; Thege, Fredrik I; Santana, Steven M; Lannin, Timothy B; Saha, Trisha N; Tsai, Shannon; Maggs, Lara R; Kochman, Michael L; Ginsberg, Gregory G; Lieb, John G; Chandrasekhara, Vinay; Drebin, Jeffrey A; Ahmad, Nuzhat; Yang, Yu-Xiao; Kirby, Brian J; Stanger, Ben Z

    2014-03-01

    Hematogenous dissemination is thought to be a late event in cancer progression. We recently showed in a genetic model of pancreatic ductal adenocarcinoma that pancreas cells can be detected in the bloodstream before tumor formation. To confirm these findings in humans, we used microfluidic geometrically enhanced differential immunocapture to detect circulating pancreas epithelial cells in patient blood samples. We captured more than 3 circulating pancreas epithelial cells/mL in 7 of 21 (33%) patients with cystic lesions and no clinical diagnosis of cancer (Sendai criteria negative), 8 of 11 (73%) with pancreatic ductal adenocarcinoma, and in 0 of 19 patients without cysts or cancer (controls). These findings indicate that cancer cells are present in the circulation of patients before tumors are detected, which might be used in risk assessment. PMID:24333829

  6. [Spontaneous rupture of mediastinal cystic teratoma (case report)].

    PubMed

    Ege, Gürkan; Akman, Haluk; Kuzucu, Kismet; Kalayci, Göksel

    2004-06-01

    Teratomas are rare tumors in the mediastinum. Benign cystic teratomas of anterior mediastinum are rarely complicated by rupture into an adjacent body cavity. Such rupture, however, is usually associated with life-threatening complications. We present a case with spontaneous rupture of mediastinal cystic teratoma. The patient was evaluated with chest radiograph, computed tomography (CT) and magnetic resonance imaging (MRI). A complex mass including predominantly cystic components was detected in the left anterior mediastinum. After surgery, pathologic diagnosis was reported as mature cystic teratoma. High levels of amylase and lipase were detected in both the cystic fluid and serum. This finding supported the hypothesis of autolysis for the explanation of rupture. In addition, carbohydrate antigen (CA) 19-9, CA 125 and carcinoembryonic antigen (CEA) levels were high in the cystic fluid. PMID:15236127

  7. [A case of mucinous cystic neoplasm of the liver].

    PubMed

    Tatsumi, Ryoji; Amizuka, Hisato; Matsubara, Yu; Yoshizaki, Koji; Sakamoto, Jun; Sato, Ryu; Kimura, Keisuke; Nishimori, Hiroyuki; Ohta, Tomoyuki

    2015-07-01

    We present a case of resected mucinous cystic neoplasm of the liver in a 71-year-old woman admitted to our hospital with epigastric discomfort. Abdominal ultrasonography and computed tomography revealed a multi-locular cystic tumor measuring 35 mm in diameter in segment IV of the liver. Left hepatic lobectomy was performed based on the diagnosis of mucinous cystic neoplasm of the liver; subsequent histology revealed that the tumor was multi-locular, cystic, and lined with a single layer of columnar epithelium with low-grade atypia and was associated with a typical ovarian-like stroma. There was no evidence (imaging or histological) to support communication of the cyst with the intrahepatic bile duct, despite modest bile deposition being observed in the cystic wall. The definitive diagnosis was mucinous cystic neoplasm with low-grade intrahepatic epithelial neoplasia. PMID:26155869

  8. Pregnancy and cystic fibrosis: Approach to contemporary management.

    PubMed

    Geake, James; Tay, George; Callaway, Leonie; Bell, Scott C

    2014-12-01

    Over the previous 50 years survival of patients with cystic fibrosis has progressively increased. As a result of improvements in health care, increasing numbers of patients with cystic fibrosis are now considering starting families of their own. For the health care professionals who look after these patients, the assessment of the potential risks, and the process of guiding prospective parents through pregnancy and beyond can be both challenging and rewarding. To facilitate appropriate discussions about pregnancy, health care workers must have a detailed understanding of the various important issues that will ultimately need to be considered for any patient with cystic fibrosis considering parenthood. This review will address these issues. In particular, it will outline pregnancy outcomes for mothers with cystic fibrosis, issues that need to be taken into account when planning a pregnancy and the management of pregnancy for mothers with cystic fibrosis or mothers who have undergone organ transplantation as a result of cystic fibrosis. PMID:27512443

  9. Pregnancy and cystic fibrosis: Approach to contemporary management

    PubMed Central

    Tay, George; Callaway, Leonie; Bell, Scott C

    2014-01-01

    Over the previous 50 years survival of patients with cystic fibrosis has progressively increased. As a result of improvements in health care, increasing numbers of patients with cystic fibrosis are now considering starting families of their own. For the health care professionals who look after these patients, the assessment of the potential risks, and the process of guiding prospective parents through pregnancy and beyond can be both challenging and rewarding. To facilitate appropriate discussions about pregnancy, health care workers must have a detailed understanding of the various important issues that will ultimately need to be considered for any patient with cystic fibrosis considering parenthood. This review will address these issues. In particular, it will outline pregnancy outcomes for mothers with cystic fibrosis, issues that need to be taken into account when planning a pregnancy and the management of pregnancy for mothers with cystic fibrosis or mothers who have undergone organ transplantation as a result of cystic fibrosis. PMID:27512443

  10. Cystic Adventitial Disease in Former Athlete.

    PubMed

    Fatic, Nikola; Nikolic, Aleksandar; Maras, Dejan; Bulatovic, Nikola

    2015-09-15

    In this paper we present a 39-year old former athlete complaining with pain in his legs during long walk resembling to intermittent claudication. Color duplex scan described a popliteal artery with 10 mm in diameter with mural thrombus that caused stenosis 75% of lumen. Digital subtraction angiography demonstrated a stenosis of right popliteal artery. The suspicion for Cystic adventitial disease was set. The patient was operated on by posterior direct approach. After incision, a yellowish viscous material was observed in adventitia. Partial resection of the affected popliteal artery and replacement by an autogenous great saphenous vein graft was performed. Patient was dismissed on the seventh postoperative day, in good condition and without any complication. Cystic adventitial disease of the popliteal artery should be considered in the differential diagnosis of intermittent claudication, especially in former sportsmen patients. Partial resection of the affected popliteal artery and replacement by an autogenous great saphenous vain graft produces excellent results. PMID:27275264

  11. MicroRNA Dysregulation in Cystic Fibrosis

    PubMed Central

    McKiernan, Paul J.; Greene, Catherine M.

    2015-01-01

    The cystic fibrosis lung is a complex milieu comprising multiple factors that coordinate its physiology. MicroRNAs are regulatory factors involved in most biological processes and it is becoming increasingly clear that they play a key role in the development and manifestations of CF lung disease. These small noncoding RNAs act posttranscriptionally to inhibit protein production. Their involvement in the pathogenesis of CF lung disease stems from the fact that their expression is altered in vivo in the CF lung due to intrinsic and extrinsic factors; to date defective chloride ion conductance, endoplasmic reticulum stress, inflammation, and infection have been implicated in altering endogenous miRNA expression in this setting. Here, the current state-of-the-art and biological consequences of altered microRNA expression in cystic fibrosis are reviewed. PMID:26185362

  12. Diffuse Cystic Lung Diseases: Diagnostic Considerations.

    PubMed

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

    2016-06-01

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

  13. Inflammation and its genesis in cystic fibrosis.

    PubMed

    Nichols, David P; Chmiel, James F

    2015-10-01

    The host inflammatory response in cystic fibrosis (CF) lung disease has long been recognized as a central pathological feature and an important therapeutic target. Indeed, many believe that bronchiectasis results largely from the oxidative and proteolytic damage comprised within an exuberant airway inflammatory response that is dominated by neutrophils. In this review, we address the longstanding argument of whether or not the inflammatory response is directly attributable to impairment of the cystic fibrosis transmembrane conductance regulator or only secondary to airway obstruction and chronic bacterial infection and challenge the importance of this distinction in the context of therapy. We also review the centrality of neutrophils in CF lung pathophysiology and highlight more recent data that suggest the importance of other cell types and signaling beyond NF-κB activation. We discuss how protease and redox imbalance are critical factors in CF airway inflammation and end by reviewing some of the more promising therapeutic approaches now under development. PMID:26335954

  14. Acquired Cystic Fibrosis Transmembrane Conductance Regulator Deficiency.

    PubMed

    Cho, Do-Yeon; Woodworth, Bradford A

    2016-01-01

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

  15. Diffuse Cystic Lung Disease. Part I.

    PubMed

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

    2015-06-15

    The diffuse cystic lung diseases (DCLDs) are a group of pathophysiologically heterogenous processes that are characterized by the presence of multiple spherical or irregularly shaped, thin-walled, air-filled spaces within the pulmonary parenchyma. Although the mechanisms of cyst formation remain incompletely defined for all DCLDs, in most cases lung remodeling associated with inflammatory or infiltrative processes results in displacement, destruction, or replacement of alveolar septa, distal airways, and small vessels within the secondary lobules of the lung. The DCLDs can be broadly classified according to underlying etiology as those caused by low-grade or high-grade metastasizing neoplasms, polyclonal or monoclonal lymphoproliferative disorders, infections, interstitial lung diseases, smoking, and congenital or developmental defects. In the first of a two-part series, we present an overview of the cystic lung diseases caused by neoplasms, infections, smoking-related diseases, and interstitial lung diseases, with a focus on lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis. PMID:25906089

  16. Diffuse Cystic Lung Disease. Part II.

    PubMed

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

    2015-07-01

    The diffuse cystic lung diseases have a broad differential diagnosis. A wide variety of pathophysiological processes spanning the spectrum from airway obstruction to lung remodeling can lead to multifocal cyst development in the lung. Although lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis are perhaps more frequently seen in the clinic, disorders such as Birt-Hogg-Dubé syndrome, lymphocytic interstitial pneumonia, follicular bronchiolitis, and light-chain deposition disease are increasingly being recognized. Obtaining an accurate diagnosis can be challenging, and management approaches are highly disease dependent. Unique imaging features, genetic tests, serum studies, and clinical features provide invaluable clues that help clinicians distinguish among the various etiologies, but biopsy is often required for definitive diagnosis. In part II of this review, we present an overview of the diffuse cystic lung diseases caused by lymphoproliferative disorders, genetic mutations, or aberrant lung development and provide an approach to aid in their diagnosis and management. PMID:25906201

  17. Cystic Adventitial Disease in Former Athlete

    PubMed Central

    Fatic, Nikola; Nikolic, Aleksandar; Maras, Dejan; Bulatovic, Nikola

    2015-01-01

    In this paper we present a 39-year old former athlete complaining with pain in his legs during long walk resembling to intermittent claudication. Color duplex scan described a popliteal artery with 10 mm in diameter with mural thrombus that caused stenosis 75% of lumen. Digital subtraction angiography demonstrated a stenosis of right popliteal artery. The suspicion for Cystic adventitial disease was set. The patient was operated on by posterior direct approach. After incision, a yellowish viscous material was observed in adventitia. Partial resection of the affected popliteal artery and replacement by an autogenous great saphenous vein graft was performed. Patient was dismissed on the seventh postoperative day, in good condition and without any complication. Cystic adventitial disease of the popliteal artery should be considered in the differential diagnosis of intermittent claudication, especially in former sportsmen patients. Partial resection of the affected popliteal artery and replacement by an autogenous great saphenous vain graft produces excellent results.

  18. Potter sequence complicated by congenital cystic lesion of the bladder.

    PubMed

    Abe, Yoshifusa; Mizuno, Katsumi; Horie, Hiroshi; Matsumoto, Michihiro; Yamaoka, Akiko; Mizutani, Kayo; Takeuchi, Toshio; Iikura, Yoji

    2002-07-01

    We report a case complicated by oligohydramnios, pulmonary hypoplasia, bilateral renal dysplasia, and cystic lesion of the bladder. He was clinically compatible with Potter sequence. Congenital cystic bladder is the rarest form of the bladder. We can find no report of Potter sequence complicated by cystic lesion of the bladder. This lesion was similar to multilocular bladder. The diagnosis was confirmed it by autopsy, magnetic resonance imaging, and urography after his death. PMID:12152145

  19. Calcifying cystic odontogenic tumor radiographically mimicking a sinus mucocele.

    PubMed

    de Santana Santos, Thiago; Frota, Riedel; de Souza Andrade, Emanuel Sávio; de Oliveira E Silva, Emanuel Dias

    2013-03-01

    The calcifying cystic odontogenic tumor or Gorlin cyst is an uncommon lesion with a variable clinical behavior and considerable histopathologic diversity. The authors report a case of calcifying cystic odontogenic tumor that was being treated as a maxillary sinus mucocele. The possibility of mimicking numerous odontogenic and nonodontogenic lesions makes the calcifying cystic odontogenic tumor difficult for a clinical diagnosis. The present case demonstrates that a specific knowledge in oral pathology is required to differentiate odontogenic lesions. PMID:23524811

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

    PubMed

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

    2005-01-01

    Cystic fibrosis is the most frequent autosomal recessive genetic disease in North European population. This pathology seems to not be rare in Tunisia. On another hand, development of molecular biology techniques has largely contributed to implement the study of the different mutations in the CFTR gene where over 1,300 mutations were reported. Herein, we describe the strategy used to detect molecular defects responsible of cystic fibrosis on 390 children (383 families) in Tunisian population. Several techniques were performed for genotype diagnosis: DNA extraction was from peripheral blood. Polymerase chain reaction (PCR) and polyacylamide gel electrophoresis, and reverse dot blot procedures were used to detect known point mutations. Denaturant gradient gel electrophoresis (DGGE) were used in a next step searching for the unknown point mutations that are later identified by automated sequencing on ABIprism 310. This strategy allowed us to detect 17 different mutations located on the different exons of the CFTR gene. The most frequent was the F508del (50.74%) followed by three other mutations (G542X, W1282X and N1303K) known to be common in the Mediterranean area. For mutations (T665S, 2766 del8, F1166C, L1043R) were exclusively found, up to now, in the Tunisian population. Our results permitted to establish cystic fibrosis mutations and their distribution in Tunisia and to implement an appropriate prevention program of these diseases through the genetic council and prenatal diagnosis. PMID:16330381

  1. Progress in therapies for cystic fibrosis.

    PubMed

    De Boeck, Kris; Amaral, Margarida D

    2016-08-01

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

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

    PubMed

    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. PMID:26894479

  3. Cystic lesions of the pancreas: challenging issues in clinical practice.

    PubMed

    Oh, Hyoung-Chul; Kim, Myung-Hwan; Hwang, Chang Yun; Lee, Tae Yoon; Lee, Sang Soo; Seo, Dong-Wan; Lee, Sung Koo

    2008-01-01

    Cystic lesions of the pancreas are being recognized with increasing frequency and have become a common finding in clinical practice. Cystic lesions of the pancreas display a wide spectrum of histopathology and biologic behavior. Differentiating among lesions and choosing an optimal therapy is challenging, and evidence-based guidelines for diagnosis, management, and follow-up for cystic lesions of the pancreas are needed. This review describes the epidemiology and typical features of cystic lesions of the pancreas, including a summary of commonly used descriptive terms, as well as the primary issues in the differential diagnosis and management of these lesions. PMID:18076739

  4. Chloride and potassium channels in cystic fibrosis airway epithelia

    NASA Astrophysics Data System (ADS)

    Welsh, Michael J.; Liedtke, Carole M.

    1986-07-01

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

  5. Customized individual applicators for endocavitary brachytherapy in patients with cancers of the nasal cavity, sinonasal region and nasopharynx.

    PubMed

    Kadah, Basel Al; Niewald, Marcus; Papaspyrou, George; Dzierma, Yvonne; Schneider, Mathias; Schick, Bernhard

    2016-06-01

    Brachytherapy has become an established therapeutic regimen for primary, persistent, recurrent and metastatic tumour disease in the head and neck region. This study presents the authors' preliminary experience with intracavitary brachytherapy by means of an individual silicone applicator in the treatment of patients with nasal, sinonasal, orbital and nasopharyngeal cancer. Between January 2001 and January 2013, twenty patients with cancer of the nasal cavity, the paranasal sinuses and nasopharynx underwent surgery and intracavitary brachytherapy with the aid of an individually manufactured silicone applicator in the Department of Otolaryngology, Head and Neck Surgery and in the Department of Radiotherapy and Radiooncology at the Saarland University Medical Center of Homburg, Germany. The tumour was localized in the nasal cavity/paranasal sinuses (15) affecting the orbit twice and the nasopharynx (5). There were 14 patients with squamous cell carcinoma, 2 patients with mixed tumours and one patient with adenocarcinoma, adenoid cystic carcinoma, mucosal melanoma or plasmocytoma. The majority of the patients presented with advanced disease (T3 or T4 tumours). In 18/20 patients, brachytherapy was performed as a boost technique, in the remaining two solely because of a previous radiation series. All surgical interventions were performed endonasally. Three to six weeks after surgery, a cast of the nasal cavity was created under general anaesthesia. Subsequently, an individual brachytherapy silicon applicator with two to four plastic tubes was manufactured. The radiation therapy was applied using the Ir-192 high-dose-rate-afterloading method (total dose 10-20 Gy) in two to five sessions, additionally in 18/20 patients a percutaneous radiotherapy with a total dose of 30-60 Gy was applied. After a mean duration of follow-up of 2 years, 7/20 patients experienced a local progression, 5/19 a regional recurrence in the neck nodes and 4/19 distant metastases. The 2-year

  6. Transoral Robotic Surgery in Treating Patients With Benign or Malignant Tumors of the Head and Neck

    ClinicalTrials.gov

    2015-03-26

    Recurrent Adenoid Cystic Carcinoma of the Oral Cavity; Recurrent Mucoepidermoid Carcinoma of the Oral Cavity; Recurrent Squamous Cell Carcinoma of the Hypopharynx; Recurrent Squamous Cell Carcinoma of the Larynx; Recurrent Squamous Cell Carcinoma of the Lip and Oral Cavity; Recurrent Verrucous Carcinoma of the Larynx; Recurrent Verrucous Carcinoma of the Oral Cavity; Stage 0 Hypopharyngeal Cancer; Stage 0 Laryngeal Cancer; Stage 0 Lip and Oral Cavity Cancer; Stage I Adenoid Cystic Carcinoma of the Oral Cavity; Stage I Mucoepidermoid Carcinoma of the Oral Cavity; Stage I Squamous Cell Carcinoma of the Hypopharynx; Stage I Squamous Cell Carcinoma of the Larynx; Stage I Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage I Verrucous Carcinoma of the Larynx; Stage I Verrucous Carcinoma of the Oral Cavity; Stage II Adenoid Cystic Carcinoma of the Oral Cavity; Stage II Mucoepidermoid Carcinoma of the Oral Cavity; Stage II Squamous Cell Carcinoma of the Hypopharynx; Stage II Squamous Cell Carcinoma of the Larynx; Stage II Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage II Verrucous Carcinoma of the Larynx; Stage II Verrucous Carcinoma of the Oral Cavity; Stage III Adenoid Cystic Carcinoma of the Oral Cavity; Stage III Mucoepidermoid Carcinoma of the Oral Cavity; Stage III Squamous Cell Carcinoma of the Hypopharynx; Stage III Squamous Cell Carcinoma of the Larynx; Stage III Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage III Verrucous Carcinoma of the Larynx; Stage III Verrucous Carcinoma of the Oral Cavity; Stage IV Squamous Cell Carcinoma of the Hypopharynx; Stage IVA Adenoid Cystic Carcinoma of the Oral Cavity; Stage IVA Mucoepidermoid Carcinoma of the Oral Cavity; Stage IVA Squamous Cell Carcinoma of the Larynx; Stage IVA Squamous Cell Carcinoma of the Lip and Oral Cavity; Stage IVA Verrucous Carcinoma of the Larynx; Stage IVA Verrucous Carcinoma of the Oral Cavity; Stage IVB Adenoid Cystic Carcinoma of the Oral Cavity; Stage IVB

  7. Cancer

    MedlinePlus

    Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms ... be benign or malignant. Benign tumors aren't cancer while malignant ones are. Cells from malignant tumors ...

  8. Adult renal cystic disease: a genetic, biological, and developmental primer.

    PubMed

    Katabathina, Venkata S; Kota, Gopi; Dasyam, Anil K; Shanbhogue, Alampady K P; Prasad, Srinivasa R

    2010-10-01

    Renal cystic diseases in adults are a heterogeneous group of disorders characterized by the presence of multiple cysts in the kidneys. These diseases may be categorized as hereditary, acquired, or developmental on the basis of their pathogenesis. Hereditary conditions include autosomal dominant polycystic kidney disease, medullary cystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis. Acquired conditions include cystic kidney disease, which develops in patients with end-stage renal disease. Developmental cystic diseases of the adult kidney include localized renal cystic disease, multicystic dysplastic kidney, and medullary sponge kidney. In recent years, many molecular and cellular mechanisms involved in the pathogenesis of renal cystic diseases have been identified. Hereditary renal cystic diseases are characterized by genetic mutations that lead to defects in the structure and function of the primary cilia of renal tubular epithelial cells, abnormal proliferation of tubular epithelium, and increased fluid secretion, all of which ultimately result in the development of renal cysts. A better understanding of these pathophysiologic mechanisms is now providing the basis for the development of more targeted therapeutic drugs for some of these disorders. Cross-sectional imaging provides useful information for diagnosis, surveillance, prognostication, and evaluation of treatment response in renal cystic diseases. PMID:21071372

  9. The Cystic Vein: The Significance of a Forgotten Anatomic Landmark

    PubMed Central

    1997-01-01

    The cystic vein, a portion of biliary anatomy whose insignificance in open gallbladder surgery led to its being relegated to mythology, has been rediscovered by the magnified view of laparoscopic surgery. Its presence is an important anatomic feature that helps distinguish between cystic duct and common hepatic duct, thus diminishing the risk of inadvertent bile duct injury during laparoscopic cholecystectomy. PMID:9876684

  10. The cystic vein: the significance of a forgotten anatomic landmark.

    PubMed

    Fine, A

    1997-01-01

    The cystic vein, a portion of biliary anatomy whose insignificance in open gallbladder surgery led to its being relegated to mythology, has been rediscovered by the magnified view of laparoscopic surgery. Its presence is an important anatomic feature that helps distinguish between cystic duct and common hepatic duct, thus diminishing the risk of inadvertent bile duct injury during laparoscopic cholecystectomy. PMID:9876684

  11. First isolations of Segniliparus rugosus from patients with cystic fibrosis.

    PubMed

    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

    2007-10-01

    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

  12. Rare cystic liver lesions: A diagnostic and managing challenge

    PubMed Central

    Bakoyiannis, Andreas; Delis, Spiros; Triantopoulou, Charina; Dervenis, Christos

    2013-01-01

    Cystic formations within the liver are a frequent finding among populations. Besides the common cystic lesions, like simple liver cysts, rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis. Thorough knowledge of each entity’s nature and course are key elements to successful treatment. Detailed search in PubMed, Cochrane Database, and international published literature regarding rare cystic liver lesions was carried out. In our research are included not only primary rare lesions like cystadenoma, hydatid cyst, and polycystic liver disease, but also secondary ones like metastasis from gastrointestinal stromal tumors lesions. Up-to date knowledge regarding diagnosis and management of rare cystic liver lesions is provided. A diagnostic and therapeutic algorithm is also proposed. The need for a multidisciplinary approach by a team including radiologists and surgeons familiar with liver cystic entities, diagnostic tools, and treatment modalities is stressed. Patients with cystic liver lesions must be carefully evaluated by a multidisciplinary team, in order to receive the most appropriate treatment, since many cystic liver lesions have a malignant potential and evolution. PMID:24282350

  13. The Spectrum of Nocardia Lung Disease in Cystic Fibrosis.

    PubMed

    Mei-Zahav, Meir; Livnat, Galit; Bentur, Lea; Mussaffi, Huda; Prais, Dario; Stafler, Patrick; Bar-On, Ophir; Steuer, Guy; Blau, Hannah

    2015-08-01

    We reviewed all cases of Nocardia infection in cystic fibrosis patients at 2 centers. Eight of 200 patients had Nocardia in sputum. Four developed severe lung disease, including 3 with associated allergic bronchopulmonary aspergillosis; 4 remained clinically stable. Nocardia is often associated with significant lung disease in cystic fibrosis, possibly associated with allergic bronchopulmonary aspergillosis or steroids. PMID:25973994

  14. Pandoraea pulmonicola chronic colonization in a cystic fibrosis patient, France

    PubMed Central

    Kokcha, S; Bittar, F; Reynaud-Gaubert, M; Mely, L; Gomez, C; Gaubert, J-Y; Thomas, P; Rolain, J-M

    2013-01-01

    Pandoraea are considered emerging multidrug resistant pathogens in the context of cystic fibrosis. We report herein for the first time the case of a 30-year-old woman with cystic fibrosis, living in France, who was chronically infected with Pandoraea pulmonicola and who died of Pseudomonas aeruginosa sepsis 3 weeks after bilateral lung transplantation. PMID:25356323

  15. Rare cystic liver lesions: a diagnostic and managing challenge.

    PubMed

    Bakoyiannis, Andreas; Delis, Spiros; Triantopoulou, Charina; Dervenis, Christos

    2013-11-21

    Cystic formations within the liver are a frequent finding among populations. Besides the common cystic lesions, like simple liver cysts, rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis. Thorough knowledge of each entity's nature and course are key elements to successful treatment. Detailed search in PubMed, Cochrane Database, and international published literature regarding rare cystic liver lesions was carried out. In our research are included not only primary rare lesions like cystadenoma, hydatid cyst, and polycystic liver disease, but also secondary ones like metastasis from gastrointestinal stromal tumors lesions. Up-to date knowledge regarding diagnosis and management of rare cystic liver lesions is provided. A diagnostic and therapeutic algorithm is also proposed. The need for a multidisciplinary approach by a team including radiologists and surgeons familiar with liver cystic entities, diagnostic tools, and treatment modalities is stressed. Patients with cystic liver lesions must be carefully evaluated by a multidisciplinary team, in order to receive the most appropriate treatment, since many cystic liver lesions have a malignant potential and evolution. PMID:24282350

  16. Cystic fibrosis: need for mass deployable screening methods.

    PubMed

    Sengar, Aditya Singh; Agarwal, Anirudh; Singh, Manish K

    2014-10-01

    Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is a member of the adenosine triphosphate (ATP)-binding cassette superfamily of proteins and it functions as a chloride channel. CFTR largely controls the working of epithelial cells of the airways, the gastrointestinal tract, exocrine glands, and genitourinary system. Cystic fibrosis is responsible for severe chronic pulmonary disorders in children. Other maladies in the spectrum of this life-limiting disorder include nasal polyposis, pansinusitis, rectal prolapse, pancreatitis, cholelithiasis, insulin-dependent hyperglycemia, and cirrhosis. This review summarizes the recent state of art in the field of cystic fibrosis diagnostic methods with the help of CF literature published so far and proposes new research domains in the field of cystic fibrosis diagnosis. PMID:24880895

  17. Cystic Fibrosis: Microbiology and Host Response.

    PubMed

    Zemanick, Edith T; Hoffman, Lucas R

    2016-08-01

    The earliest descriptions of lung disease in people with cystic fibrosis (CF) showed the involvement of 3 interacting pathophysiologic 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, increased longevity, and increasingly sophisticated laboratory techniques. This article reviews the current understanding of infection and inflammation and their roles in CF lung disease. It also discusses how this constantly evolving information is used to inform current therapeutic strategies, measures and predictors of disease severity, and research priorities. PMID:27469179

  18. Cystic Neoplasms of the Exocrine Pancreas

    PubMed Central

    Ribaux, C.; Schnyder, P.

    1990-01-01

    Cystic neoplasms of the pancreas are rare and their diagnosis and treatment can be difficult. This report details 7 patients who had histologically proven serous cystadenoma4, mucinous cystadenoma2 and cystadeno carcinoma1. Computed tomography and sonography allowed excellent preoperative assessment but to attempt a distinction between the histological variants may be hazardous. Two tumours were only autopsy findings and 5 patients underwent laparotomy. It is confirmed that potentially malignant mucinous cystadenomas and cytadenocarcinomas should be resected whenever possible; serous cystadenomas are always benign and should therefore be resected only when the diagnosis is doubtful or if they cause symptoms. PMID:2278913

  19. Cystic masses of neck: A pictorial review

    PubMed Central

    Mittal, Mahesh Kumar; Malik, Amita; Sureka, Binit; Thukral, Brij Bhushan

    2012-01-01

    Cystic masses of neck consist of a variety of pathologic entities. The age of presentation and clinical examination narrow down the differential diagnosis; however, imaging is essential for accurate diagnosis and pretreatment planning. Ultrasound is often used for initial evaluation. Computed tomography (CT) provides additional information with regard to the extent and internal composition of the mass. Fine-needle aspiration cytology (FNAC) has a supplementary role for confirmation of diagnosis. Magnetic resonance imaging may be needed in some cases for preoperative assessment. PMID:23833426

  20. Cystic Fibrosis Diagnosis and Newborn Screening.

    PubMed

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

    2016-08-01

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

  1. The Changing Microbial Epidemiology in Cystic Fibrosis

    PubMed Central

    LiPuma, John J.

    2010-01-01

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

  2. Vitamin K supplementation for cystic fibrosis

    PubMed Central

    Jagannath, Vanitha A; Fedorowicz, Zbys; Thaker, Vidhu; Chang, Anne B

    2015-01-01

    Background 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. Objectives 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. Search methods 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: 08 October 2014. Selection criteria 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). Data collection and analysis Two authors independently screened papers, extracted trial details and assessed their risk of bias. Main results 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 crossover 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

  3. Nontuberculous Mycobacterial Infections in Cystic Fibrosis.

    PubMed

    Martiniano, Stacey L; Nick, Jerry A; Daley, Charles L

    2016-03-01

    Nontuberculous mycobacteria (NTM) are important emerging cystic fibrosis (CF) pathogens, with estimates of prevalence ranging from 6% to 13%. Diagnosis of NTM disease in patients with CF is challenging, as the infection may remain indolent in some, without evidence of clinical consequence, whereas other patients suffer significant morbidity and mortality. Treatment requires prolonged periods of multiple drugs and varies depending on NTM species, resistance pattern, and extent of disease. The development of a disease-specific approach to the diagnosis and treatment of NTM infection in CF patients is a research priority, as a lifelong strategy is needed for this high-risk population. PMID:26857770

  4. Vaccine strategies against cystic fibrosis pathogens.

    PubMed

    Le Moigne, Vincent; Gaillard, Jean-Louis; Herrmann, Jean-Louis

    2016-03-01

    A great number of cystic fibrosis (CF) pathogens such as Pseudomonas aeruginosa, the Burkholderia cepacia and the Mycobacterium abscessus complex raised difficult therapeutic problems due to their intrinsic multi-resistance to numerous antibiotics. Vaccine strategies represent one of the key weapons against these multi-resistant bacteria in a number of clinical settings like CF. Different strategies are considered in order to develop such vaccines, linked either to priming the host response, or by exploiting genomic data derived from the bacterium. Interestingly, virulence factors synthesized by various pathogens might serve as targets for vaccine development and have been, for example, evaluated in the context of CF. PMID:26618824

  5. Benign Cystic Mesothelioma Misdiagnosed as Peritoneal Carcinomatosis

    PubMed Central

    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.

  6. Targeting the Root Cause of Cystic Fibrosis.

    PubMed

    Trescott, Laura; Holcomb, Joshua; Spellmon, Nicholas; Mcleod, Cathy; Aljehane, Leala; Sun, Fei; Li, Chunying; Yang, Zhe

    2015-01-01

    Cystic Fibrosis (CF) is a serious genetic condition caused by CF transmembrane conductance regulator (CFTR) mutation. CF patients have shortened lifespan due to airway obstruction, infection, and end-stage lung failure. However, recent development in CF therapy suggests a brighter future for CF patients. Targeting specific CFTR mutations aims to potentiate the channel gating activity of impaired CFTR and restore protein trafficking to the plasma membrane. Gene therapy introduces correct CFTR gene into the affected airway epithelium leading to the functional expression of CFTR in CF patients. This review will sum up the current status in CF-cause targeting therapy. PMID:25316272

  7. Nutrition and Growth in Cystic Fibrosis.

    PubMed

    Lusman, Sarah; Sullivan, Jillian

    2016-08-01

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

  8. Multiple Cystic Sweat Gland Tumors in Transgenic Mice

    PubMed Central

    Matthias, Nadine; Lockworth, Cynthia R; Zhang, Fanmao; Lee, Mong-Hong; Yeung, Sai-Ching J; Tsai, Kenneth Y; Hamir, Amir N

    2012-01-01

    Here we describe gross and microscopic sweat gland tumors found in a transgenic mouse model of breast cancer, which had transforming growth factor α under the control of mouse mammary tumor virus promoter (MMTV–TGFα). Initially, 20% of the mice in the colony were affected. Cystic lesions formed on the phalanges, palmar surfaces of the metacarpals, and plantar surfaces of the metatarsals. The lesions were multifocal and nonulcerated with straw-colored fluid, ranging in size from 1 to 30 mm at the largest dimension. The colony was monitored for 6 mo; during that time, the prevalence of lesions increased to 52% of the mice. Histologically, in most cases the cyst walls were lined by 1 or 2 layers of normal-appearing epithelial cells that resembled basal cells, indicating adenoma. However, 2 cysts from 2 different mice had papillary proliferative projections and extensive disorganized glandular structures that protruded into the cyst cavities, indicating adenocarcinoma. In these 2 cases, the neoplastic cells revealed architectural and cytologic atypia with rare mitoses. Similar findings have previously been observed in sweat gland tumors; however, multiple sweat-gland tumors have not been reported in mice. PMID:22330648

  9. [Cancer].

    PubMed

    de la Peña-López, Roberto; Remolina-Bonilla, Yuly Andrea

    2016-09-01

    Cancer is a group of diseases which represents a significant public health problem in Mexico and worldwide. In Mexico neoplasms are the second leading cause of death. An increased morbidity and mortality are expected in the next decades. Several preventable risk factors for cancer development have been identified, the most relevant including tobacco use, which accounts for 30% of the cancer cases; and obesity, associated to another 30%. These factors, in turn, are related to sedentarism, alcohol abuse and imbalanced diets. Some agents are well knokn to cause cancer such as ionizing radiation, viruses such as the papilloma virus (HPV) and hepatitis virus (B and C), and more recently environmental pollution exposure and red meat consumption have been pointed out as carcinogens by the International Agency for Research in Cancer (IARC). The scientific evidence currently available is insufficient to consider milk either as a risk factor or protective factor against different types of cancer. PMID:27603890

  10. Mucinous Cystic Neoplasm of the Liver Masquerading as an Echinococcal Cyst: Radiologic-pathologic Differential of Complex Cystic Liver Lesions

    PubMed Central

    Jeong, Daniel; Jiang, Kun; Anaya, Daniel A.

    2016-01-01

    Although simple liver cysts are common, complex cystic liver lesions are infrequent and represent a diagnostic and therapeutic challenge. The differential diagnosis of complex cystic liver lesions can be grouped into neoplastic, infectious or inflammatory, and miscellaneous pathologic entities. Clinicians should remember to consider mucinous cystic neoplasm and echinococcal cysts in the differential, which are uncommon etiologies for liver lesions but may expose unique challenges. We present a case of a 49-year-old female who was referred for evaluation of a new complex cystic liver lesion. The following brief review describes how radiologic imaging and pathologic testing can help distinguish between the broad spectrum of diseases that may produce cystic liver lesions. PMID:27195178

  11. Cystic echinococcosis is an occupational disease?

    PubMed

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

    2016-09-01

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

  12. CFTR protein repair therapy in cystic fibrosis.

    PubMed

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

    2014-04-01

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

  13. Cystic fibrosis chronic rhinosinusitis: A comprehensive review

    PubMed Central

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

    2013-01-01

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

  14. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

    PubMed Central

    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 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). PMID:21931164

  15. Lung Infections Associated with Cystic Fibrosis

    PubMed Central

    Lyczak, Jeffrey B.; Cannon, Carolyn L.; Pier, Gerald B.

    2002-01-01

    While originally characterized as a collection of related syndromes, cystic fibrosis (CF) is now recognized as a single disease whose diverse symptoms stem from the wide tissue distribution of the gene product that is defective in CF, the ion channel and regulator, cystic fibrosis transmembrane conductance regulator (CFTR). Defective CFTR protein impacts the function of the pancreas and alters the consistency of mucosal secretions. The latter of these effects probably plays an important role in the defective resistance of CF patients to many pathogens. As the modalities of CF research have changed over the decades from empirical histological studies to include biophysical measurements of CFTR function, the clinical management of this disease has similarly evolved to effectively address the ever-changing spectrum of CF-related infectious diseases. These factors have led to the successful management of many CF-related infections with the notable exception of chronic lung infection with the gram-negative bacterium Pseudomonas aeruginosa. The virulence of P. aeruginosa stems from multiple bacterial attributes, including antibiotic resistance, the ability to utilize quorum-sensing signals to form biofilms, the destructive potential of a multitude of its microbial toxins, and the ability to acquire a mucoid phenotype, which renders this microbe resistant to both the innate and acquired immunologic defenses of the host. PMID:11932230

  16. Targeting ion channels in cystic fibrosis.

    PubMed

    Mall, Marcus A; Galietta, Luis J V

    2015-09-01

    Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause a characteristic defect in epithelial ion transport that plays a central role in the pathogenesis of cystic fibrosis (CF). Hence, pharmacological correction of this ion transport defect by targeting of mutant CFTR, or alternative ion channels that may compensate for CFTR dysfunction, has long been considered as an attractive approach to a causal therapy of this life-limiting disease. The recent introduction of the CFTR potentiator ivacaftor into the therapy of a subgroup of patients with specific CFTR mutations was a major milestone and enormous stimulus for seeking effective ion transport modulators for all patients with CF. In this review, we discuss recent breakthroughs and setbacks with CFTR modulators designed to rescue mutant CFTR including the common mutation F508del. Further, we examine the alternative chloride channels TMEM16A and SLC26A9, as well as the epithelial sodium channel ENaC as alternative targets in CF lung disease, which remains the major cause of morbidity and mortality in patients with CF. Finally, we will focus on the hurdles that still need to be overcome to make effective ion transport modulation therapies available for all patients with CF irrespective of their CFTR genotype. PMID:26115565

  17. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    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. PMID:24947197

  19. Air Trapping and Airflow Obstruction in Newborn Cystic Fibrosis Piglets

    PubMed Central

    Adam, Ryan J.; Michalski, Andrew S.; Bauer, Christian; Abou Alaiwa, Mahmoud H.; Gross, Thomas J.; Awadalla, Maged S.; Bouzek, Drake C.; Gansemer, Nicholas D.; Taft, Peter J.; Hoegger, Mark J.; Diwakar, Amit; Ochs, Matthias; Reinhardt, Joseph M.; Hoffman, Eric A.; Beichel, Reinhard R.; Meyerholz, David K.

    2013-01-01

    Rationale: Air trapping and airflow obstruction are being increasingly identified in infants with cystic fibrosis. These findings are commonly attributed to airway infection, inflammation, and mucus buildup. Objectives: To learn if air trapping and airflow obstruction are present before the onset of airway infection and inflammation in cystic fibrosis. Methods: On the day they are born, piglets with cystic fibrosis lack airway infection and inflammation. Therefore, we used newborn wild-type piglets and piglets with cystic fibrosis to assess air trapping, airway size, and lung volume with inspiratory and expiratory X-ray computed tomography scans. Micro–computed tomography scanning was used to assess more distal airway sizes. Airway resistance was determined with a mechanical ventilator. Mean linear intercept and alveolar surface area were determined using stereologic methods. Measurements and Main Results: On the day they were born, piglets with cystic fibrosis exhibited air trapping more frequently than wild-type piglets (75% vs. 12.5%, respectively). Moreover, newborn piglets with cystic fibrosis had increased airway resistance that was accompanied by luminal size reduction in the trachea, mainstem bronchi, and proximal airways. In contrast, mean linear intercept length, alveolar surface area, and lung volume were similar between both genotypes. Conclusions: The presence of air trapping, airflow obstruction, and airway size reduction in newborn piglets with cystic fibrosis before the onset of airway infection, inflammation, and mucus accumulation indicates that cystic fibrosis impacts airway development. Our findings suggest that early airflow obstruction and air trapping in infants with cystic fibrosis might, in part, be caused by congenital airway abnormalities. PMID:24168209

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

    PubMed

    Cantin, André M

    2016-04-01

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

  1. [Monitoring of microflora localized at the pharyngeal tonsil surface in the children residing in the city of Chelyabinsk and presenting with chronic adenoiditis].

    PubMed

    Gizinger, O A; Shchetinin, S A

    2016-01-01

    The objective of the present retrospective study based on the analysis of 791 medical cards was to investigate microflora localized at the pharyngeal tonsil surface in the children living in the city of Chelyabinsk and presenting with exacerbation of chronic adenoiditis. 66% of the patients with this condition were 4-6 year old children. The most commonly documented were the associations composed of resident species S. alpha-haemoliticus and S. epidermidis together with pathobiontic S. aureus. S. beta-haemoliticus and S. pneumoniae occurred most frequently whereas H. influenza and some representatives of the genus Enterobacteriaceae were less numerous. Fungi of the genus Candida were identified in 25.4% of the samples at a titer above 10^4. In 23.7% of the cases, these fungi were found in the associations with S. aureus which resulted in mutual potentiation of the pathogenicity factor. PMID:26977565

  2. Remnant cystic duct adenocarcinoma presenting as gastric outlet obstruction

    PubMed Central

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

    2016-01-01

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

  3. Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites

    PubMed Central

    Arakeri, Surekha Ulhas; Patil, Vijaya L.; Mulay, Himanshu Dilip

    2015-01-01

    Intraabdominal cystic lymphangiomas are rare and are located in retroperitoneum, mesentery, omentum and other visceral organs. Lymphangiomas of the ovary are rare and are usually unilateral. Cases with bilateral cystic lymphangiomas of the ovary are reported very rarely in literature. We report a rare case of bilateral cystic lymphangioma of ovary associated with chylous ascites in a 35-year-old lady who presented with complaints of severe dysmenorrhoea and oligomenorrhoea since 6 months with history of chyluria for the past 3 years. PMID:26435959

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

    PubMed

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

    2016-08-01

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

  5. [Pancreatic cystic fibrosis in Mexicans over 15 years of age].

    PubMed

    Quezada, R; Hernandez, N; Sada, E

    1990-01-01

    A better knowledge of cystic fibrosis of the pancreas has contributed to raise the detection of cystic fibrosis in adults. We describe nine Mexican patients older than 15 years with cystic fibrosis. Respiratory symptoms were predominant and they were secondary to bronchiectasis. All patients were infected by mucoid Pseudomona aeruginosa and in some cases, the finding of this microorganism in sputum suggested the diagnosis. In Mexican population the cystyc fibrosis of the pancreas can be found in adult patients, and it should be considered in the differential diagnosis of chronic respiratory diseases in adults. PMID:2125356

  6. Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis

    PubMed Central

    Sloane, Peter A.; Rowe, Steven M.

    2013-01-01

    Purpose of review Recent progress in understanding the production, processing, and function of the cystic fibrosis gene product, the cystic fibrosis transmembrane conductance regulator (CFTR), has revealed new therapeutic targets to repair the mutant protein. Classification of CFTR mutations and new treatment strategies to address each will be described here. Recent findings High-throughput screening and other drug discovery efforts have identified small molecules that restore activity to mutant CFTR. Compounds such as VX-770 that potentiate CFTR have demonstrated exciting results in recent clinical trials and demonstrate robust effects across several CFTR mutation classes in the laboratory. A number of novel F508del CFTR processing correctors restore protein to the cell surface and improve ion channel function in vitro and are augmented by coadministration of CFTR potentiators. Ongoing discovery efforts that target protein folding, CFTR trafficking, and cell stress have also indicated promising results. Aminoglycosides and the novel small molecule ataluren induce translational readthrough of nonsense mutations in CFTR and other genetic diseases in vitro and in vivo and have shown activity in proof of concept trials, and ataluren is now being studied in confirmatory trials. Summary An improved understanding of the molecular mechanisms underlying the basic genetic defect in cystic fibrosis have led to new treatment strategies to repair the mutant protein. PMID:20829696

  7. Control programme for cystic echinococcosis in Uruguay

    PubMed Central

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

    2016-01-01

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

  8. Paediatric nasal polyps in cystic fibrosis.

    PubMed

    Mohd Slim, Mohd Afiq; Dick, David; Trimble, Keith; McKee, Gary

    2016-01-01

    Patients with cystic fibrosis (CF) are at increased risk of nasal polyps. We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and noisy breathing. Imaging suggested bilateral mucoceles in the ethmoid sinuses. Intraoperatively, bilateral soft tissue masses were noted, and both posterior choanae were patent. Polypectomy and bilateral mega-antrostomies were performed. Histological examination revealed inflammatory nasal polyposis typical of CF. The role of early functional endoscopic sinus surgery (FESS) in children with CF nasal polyposis remains questionable as the recurrence rate is higher, and no improvement in pulmonary function has been shown. Our case, however, clearly demonstrates the beneficial upper airway symptom relief and normalisation of facial appearance following FESS in a child with this condition. PMID:27329094

  9. Cystic fibrosis transmembrane regulator correctors and potentiators.

    PubMed

    Rowe, Steven M; Verkman, Alan S

    2013-07-01

    Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) protein, a cAMP-regulated anion channel expressed primarily at the apical plasma membrane of secretory epithelia. Nearly 2000 mutations in the CFTR gene have been identified that cause disease by impairing its translation, cellular processing, and/or chloride channel gating. The fundamental premise of CFTR corrector and potentiator therapy for CF is that addressing the underlying defects in the cellular processing and chloride channel function of CF-causing mutant CFTR alleles will result in clinical benefit by addressing the basic defect underlying CF. Correctors are principally targeted at F508del cellular misprocessing, whereas potentiators are intended to restore cAMP-dependent chloride channel activity to mutant CFTRs at the cell surface. This article reviews the discovery of CFTR potentiators and correctors, what is known regarding their mechanistic basis, and encouraging results achieved in clinical testing. PMID:23818513

  10. Cystic Fibrosis Transmembrane Regulator Correctors and Potentiators

    PubMed Central

    Rowe, Steven M.; Verkman, Alan S.

    2013-01-01

    Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) protein, a cAMP-regulated anion channel expressed primarily at the apical plasma membrane of secretory epithelia. Nearly 2000 mutations in the CFTR gene have been identified that cause disease by impairing its translation, cellular processing, and/or chloride channel gating. The fundamental premise of CFTR corrector and potentiator therapy for CF is that addressing the underlying defects in the cellular processing and chloride channel function of CF-causing mutant CFTR alleles will result in clinical benefit by addressing the basic defect underlying CF. Correctors are principally targeted at F508del cellular misprocessing, whereas potentiators are intended to restore cAMP-dependent chloride channel activity to mutant CFTRs at the cell surface. This article reviews the discovery of CFTR potentiators and correctors, what is known regarding their mechanistic basis, and encouraging results achieved in clinical testing. PMID:23818513

  11. Developmental and psychosocial issues in cystic fibrosis.

    PubMed

    Ernst, Michelle M; Johnson, Mark C; Stark, Lori J

    2011-08-01

    Cystic fibrosis (CF) is a multisystemic life-limiting genetic disorder, primarily affecting respiratory functioning. Most patients with CF are diagnosed by 2 years of age, and the current median predicted survival rate is 37.4 years old, with 95% of patients dying from complications related to pulmonary infection. Given the chronic, progressive, and disabling nature of CF, multiple treatments are prescribed, most on a daily basis. Thus, this illness requires children, with the aid of their families, to adopt multiple health-related behaviors in addition to managing more typical developmental demands. The morbidity and mortality factors pose cognitive, emotional, and behavioral challenges for many children with CF and their families. This article applies a developmental perspective to describing the psychosocial factors affecting psychological adjustment and health-related behaviors relevant to infants, preschool and school-age children, and adolescents with CF. Topics particularly pertinent to developmental periods and medical milestones are noted, with clinical implications highlighted. PMID:21855711

  12. Intraorbital Cystic Lesions: An Imaging Spectrum.

    PubMed

    Pahwa, Shivani; Sharma, Sanjay; Das, Chandan J; Dhamija, Ekta; Agrawal, Saurabh

    2015-01-01

    Presence of a cyst or a cystic component in an intraorbital mass often narrows the list of differential diagnoses to specific entities. Such a lesion in the orbit may arise from structures within the orbit, globe, and lacrimal system or from neighboring paranasal sinuses or meninges. Common congenital and developmental lesions encountered within the orbit include dermoids and epidermoids, and infrequently coloboma. Parasitic cysts (cysticercus), orbital abscess, mucocele, and vascular lesions are the most common acquired pathologies giving rise to fluid-containing lesions within the orbit. The role of a radiologist is crucial in expediting the diagnosis of orbital lesions with the help of characteristic imaging features on ultrasound, computed tomography, or magnetic resonance imaging. It also helps in identifying complications in others where formulation of an early and effective management strategy is vital for preserving vision. PMID:25908230

  13. Clinical monitoring of steatorrhoea in cystic fibrosis.

    PubMed Central

    Walters, M P; Kelleher, J; Gilbert, J; Littlewood, J M

    1990-01-01

    In 100 patients with cystic fibrosis the severity of steatorrhoea was assessed by three separate methods. Using chemical faecal fat assay as the gold standard, two other rapid and inexpensive methods were compared with it. The steatocrit method proved unreliable in our hands and gave little indication of the presence or severity of steatorrhoea. The more simple microscopy method was highly sensitive (97%) and only three of 80 patients with steatorrhoea were missed. All patients with severe steatorrhoea (greater than 60 mmol fat/day) were clearly demonstrated. The method is applicable to spot faecal samples and can readily be carried out on an outpatient basis. In centres where faecal fat assays are not available, the simple and cheap microscopic examination will give some indication of the response to enzyme treatment and may also help to identify non-compliant individuals. PMID:2301990

  14. Imaging of Cystic Fibrosis and Pediatric Bronchiectasis.

    PubMed

    Murphy, Kevin P; Maher, Michael M; O'Connor, Owen J

    2016-03-01

    1. CT is superior to pulmonary function tests and chest radiography for the assessment and monitoring of cystic fibrosis (CF)-related lung disease and, also, of pediatric bronchiectasis not caused by CF (hereafter referred to as non-CF bronchiectasis). 2. Low-dose CT protocols that impart radiation doses similar to those used in chest radiography are feasible for the surveillance of patients with bronchiectasis. 3. Chest radiography is still most commonly used as the first-line imaging examination of choice for the assessment of acute complications related to bronchiectasis. 4. Pulmonary MRI, with or without the use of inhaled hyperpolarized gas, can be performed to obtain functional information, and, in dedicated centers, it may yield imaging results comparable to those obtained by CT. 5. Gastrointestinal and pancreaticobiliary manifestations of CF are observed with greater frequency in adults, because of increased life expectancy. PMID:26901001

  15. Adventitial cystic disease of common femoral vein

    PubMed Central

    Suh, Bo-Yang

    2011-01-01

    Adventitial cystic disease (ACD) of venous system is an extremely rare condition. Very few reports of ACD in venous system have been described. In this report we discuss two cases of common femoral vein ACD that presented with a swollen leg by the obstruction of the vein. Ultrasound imaging showed the typical hypoechoic fluid filled cyst with a posterior acoustic window. Computed tomography scan and ascending venogram showed a stenosis to flow in the common femoral vein caused by an extrinsic mass. Trans-adventitial evacuation of cyst with removal of vein wall was performed for both cases. During operation we found the gelatinous material in the cysts arising in the wall of the common femoral vein and compressing the lumen. The patients were released after short hospitalization and have remained symptom free with no recurrence. PMID:22066091

  16. Scoliosis in cystic fibrosis - an appraisal

    SciTech Connect

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

    1982-03-01

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

  17. Two Cases of the Laryngeal Cystic Lesions

    PubMed Central

    Kusunoki, Takeshi; Wada, Ryo; Homma, Hirotomo; Kidokoro, Yoshinobu; Yanai, Aya; Ikeda, Katsuhisa

    2016-01-01

    We experienced two rare cases with laryngeal cystic lesions (laryngocele and laryngeal cyst). In the first case, the laryngocele case was removed by laryngomicrosurgery using an oral approach under general anesthesia. In the second case, the magnetic resonance imaging demonstrated a dumbbell-type cyst with mucus widely extending from the laryngeal lumen to the neck through the thyroid cartilage. The patient had undergone chemotherapy for renal carcinoma with multiple lung and bone metastases. Therefore, we performed only fine needle aspiration rather than aggressive surgery for extirpation of the cyst using an external approach. This fine needle aspiration could improve the quality of life by decreasing both the left laryngeal swelling and the resulting pain, which were the chief complaints. PMID:27162605

  18. Chronic Rhinosinusitis in Patients with Cystic Fibrosis.

    PubMed

    Hamilos, Daniel L

    2016-01-01

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

  19. Surgical treatment of multiple cystic echinococcosis

    PubMed Central

    Prousalidis, J; Kosmidis, CH; Fahantidis, E; Aletras, O

    2004-01-01

    Background Multiple hydatid disease is a complex surgical problem, and its treatment can follow either conservative principles (drainage or obliteration of the cavity) or radical principles (cystoperi-cystectomy or liver or lung resection). Methods A total of 220 patients with multiple cystic echinococcosis (428 cysts) were managed between 1967 and 1998 with conservative operations (group A) or radical operation (group B). There were 90 men and 130 women, with a mean age of 52 years (range 18–77 years). There were two cysts in 124 patients, three cysts in 40 patients, four in 15 and more than four in 41 patients. These multiple cysts were located at one anatomical site (n=140) or at more than one site (n=80). Multiple (2–3) hepatic cysts occurred in 142 patients, multiple (2–3) lung cysts in 15 and multiple peritoneal cysts in 13 patients. Hepatic cysts co-existed with lung cysts in another 32 patients, with peritoneal cysts in 14 patients and once each with splenic, splenic plus lung cysts and renal cysts, one retroperitoneal cyst coincided with small peritoneal cysts. Results The operative procedure employed was dependent on the type and site of the parasite and the condition of the host. Three of 208 patients operated conservatively (group A) died postoperatively as opposed to receiving radical treatment. Morbidity rates were 8.8% and 12.5% in group A and B and mean hospital stay was 15.8 and 15.1 days, respectively. In group A there was an 8.6% recurrence rate, and recurrent disease was finally managed in each group the overall result could be considered satisfactory. Discussion We conclude that conservative surgery can provide good results in multiple cystic echinococcosis. Radical surgery, with its time-consuming major procedures, is ideal but only in properly selected cases. PMID:18333060

  20. AEROSOL DEPOSITION AS A FUNCTION OF AIRWAY DISEASE: CYSTIC FIBROSIS

    EPA Science Inventory

    Progressive lung disease associated with cystic fibrosis (CF) is a continuous interaction of the processes of airway obstruction, infection and inflammation. ecent literature has suggested that the manifestation of CF could compromise the successful administration of pharmacologi...

  1. Cystic fibrosis--what are the prospects for a cure?

    PubMed

    Kumar, Shankar; Tana, Anand; Shankar, Anu

    2014-11-01

    Significant improvements in the treatment of cystic fibrosis over the last few decades have altered this lethal disease in children to a multisystem disorder with survival into adult life now common. In most developed countries the numbers of adult cystic fibrosis patients outnumber children. This is mainly due to improvements in care during early life. The principal cause of morbidity and mortality is pulmonary disease, and so the focus of new treatments has targeted the lungs. Identification of the underlying gene defect in the cystic fibrosis transmembrane conductance regulator has ushered in a new era in cystic fibrosis research, with prospects of a cure. In this article, we review the most exciting recent advances that correct defects in cellular processing, chloride channel function and gene therapy. PMID:25447947

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

    PubMed

    Cano Megías, Marta; González Albarrán, Olga

    2015-01-01

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

  3. Ciprofloxacin-induced phototoxicity in an adult cystic fibrosis population.

    PubMed

    Tolland, Julia P; Murphy, Bryan P; Boyle, Julie; Hall, Valerie; McKenna, Kevin E; Elborn, J Stuart

    2012-10-01

    The incidence of phototoxicity as a side effect of ciprofloxacin appears to be increased in patients with cystic fibrosis compared to the general population (approximately 2.4%). We used an interview-based questionnaire to determine the incidence of such phototoxic skin reactions in cystic fibrosis patients. Results from 105 respondents revealed the incidence of ciprofloxacin-induced phototoxicity in the adult cystic fibrosis population in Northern Ireland to be 48.4% with only 66% of the patients recalling being given sun care information beforehand. We concluded that the incidence of phototoxicity is increased in patients with cystic fibrosis and that it is important for all to receive good sun care information prior to taking ciprofloxacin given the high risk of developing phototoxic rash. PMID:22971191

  4. Cystic fibrosis in adults. From researcher to practitioner.

    PubMed Central

    Marelich, G P; Cross, C E

    1996-01-01

    The Cystic Fibrosis Foundation currently tracks about 20,000 Americans with cystic fibrosis, an autosomal recessive genetic disease that leads to multisystem complications. With the institution of better therapeutic regimens over the past 2 decades, more patients with this disease are surviving to adulthood. Within the past decade, both clinical and basic science research in the field of cystic fibrosis has progressed at a rapid rate. The intent of this review is to introduce readers to the molecular, cellular, and systemic disorders of this disease. We discuss treatment strategies involving antibiotics, nutrition, immune-response mediators, chest physiotherapy, and sputum-active agents with respect to the airway dysfunction of cystic fibrosis. Other common complications, recent developments, transplantation, and gene therapy are also reviewed. PMID:8732732

  5. Adeno-associated virus for cystic fibrosis gene therapy.

    PubMed

    Martini, S V; Rocco, P R M; Morales, M M

    2011-11-01

    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. PMID:21952739

  6. Retroperitoneal Mature Cystic Teratoma in a Neonate: A Case Report

    PubMed Central

    Patil, Prashant Sadashiv; Kothari, Paras; Gupta, Abhaya; Dikshit, Vishesh; Kamble, Ravi; Kekre, Geeta; Deshmukh, Shahaji

    2016-01-01

    We report a case of retroperitoneal mature cystic teratoma in a 2-day-old neonate. Diagnostic and surgical procedure including its complexity and relevant literature review has been discussed. PMID:27123399

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

    PubMed

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

    2016-01-01

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

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

    PubMed

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

    2016-04-01

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

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

    MedlinePlus

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

  10. Retroperitoneal Mature Cystic Teratoma in a Neonate: A Case Report.

    PubMed

    Patil, Prashant Sadashiv; Kothari, Paras; Gupta, Abhaya; Dikshit, Vishesh; Kamble, Ravi; Kekre, Geeta; Deshmukh, Shahaji

    2016-01-01

    We report a case of retroperitoneal mature cystic teratoma in a 2-day-old neonate. Diagnostic and surgical procedure including its complexity and relevant literature review has been discussed. PMID:27123399

  11. Benign Cystic Peritoneal Mesothelioma Revealed by Small Bowel Obstruction

    PubMed Central

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

    2016-01-01

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

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

    PubMed

    Meola, Mario; Samoni, Sara; Petrucci, Ilaria

    2016-01-01

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

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

    PubMed

    Marucci, G; Collina, G

    2006-02-01

    A case of ganglioneuroma arising within a cystic mature teratoma of the ovary in a 34-year-old woman is reported. Patient underwent right adnexectomy. The ovary was completely replaced by a bilocular cystic lesion, measuring 8 cm in diameter and filled with adipose tissue and pilosebaceous material. Microscopically the cyst was composed by a mature cystic teratoma containing skin with dermal appendages, fatty tissue and bronchial epithelium. Furthermore a nodule (0.5 cm in size) composed of mature ganglion cells, axons and Schwann cells, was identified. Ganglion cells were positive for NSE and synaptophysin, while Schwann cells stained positively with S100 protein and GFAP. To the best of our knowledgment this is the first reported cases of ganglioneuroma arisen within a cystic mature teratoma of the ovary. PMID:16789685

  14. Adenoid removal - series (image)

    MedlinePlus

    ... child has chronic ear infections that: interfere with child's education persist despite antibiotic treatment recur 5 or more times in a year recur 3 or more times a year during a 2-year ... if the child has chronic or repeated bouts of tonsillitis. The ...

  15. Cystic endosalpingiosis presenting as chronic back pain, a case report

    PubMed Central

    2013-01-01

    A 48-year old woman presented with chronic back pain. Previous examinations had been inconclusive. Gynaecological examination revealed large cystic masses on the fundus uteri and left adnexa. Laparoscopy and histopathology showed unusually extensive cystic endosalpingiosis covering the serosa-coated uterine surface as well as the adnexa on both sides. After uneventful laparoscopic-assisted vaginal hysterectomy the patient quickly recovered and was relieved of her chronic backache. Virtual slides http://www.diagnosticpathology.diagnomx.eu/vs/1501709091077524. PMID:24299296

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

    PubMed

    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. PMID:23856446

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

    PubMed

    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. PMID:26706913

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

    PubMed Central

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

    2015-01-01

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

  19. Management of the Upper Airway in Cystic Fibrosis

    PubMed Central

    Illing, Elisa A.; Woodworth, Bradford A.

    2015-01-01

    Purpose of Review Upper airway disease engenders significant morbidity for patients with cystic fibrosis and is increasingly recognized as having a much greater role in pulmonary outcomes and quality of life than originally believed. Widespread disparate therapeutic strategies for cystic fibrosis chronic rhinosinusitis underscore the absence of a standardized treatment paradigm. This review outlines the most recent evidence-based trends in the management of upper airway disease in cystic fibrosis. Recent Findings The unified airway theory proposes that the sinuses are a focus of initial bacterial colonization which seeds the lower airway and may play a large role in maintaining lung infections. Mounting evidence suggests more aggressive treatment of the sinuses may confer significant improvement in pulmonary disease and quality of life outcomes in cystic fibrosis patients. However, there is a lack of high-level evidence regarding medical and surgical management of cystic fibrosis chronic rhinosinusitis that makes generalizations difficult. Summary Well designed clinical trials with long-term follow-up concerning medical and surgical interventions for cystic fibrosis sinus disease are required to establish standardized treatment protocols, but increased interest in the sinuses as a bacterial reservoir for pulmonary infections has generated considerable attention. PMID:25250804

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

    PubMed Central

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

    1992-01-01

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

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

    PubMed

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

    2015-01-01

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

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

    PubMed

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

    2015-01-01

    Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that codes for an apical membrane chloride channel principally expressed by epithelial cells. Conventional approaches to cystic fibrosis care involve a heavy daily burden of supportive treatments to combat lung infection, help clear airway secretions and maintain nutritional status. In 2012, a new era of precision medicine in cystic fibrosis therapeutics began with the licensing of a small molecule, ivacaftor, which successfully targets the underlying defect and improves CFTR function in a subgroup of patients in a genotype-specific manner. Here, we review the three main targeted approaches that have been adopted to improve CFTR function: potentiators, which recover the function of CFTR at the apical surface of epithelial cells that is disrupted in class III and IV genetic mutations; correctors, which improve intracellular processing of CFTR, increasing surface expression, in class II mutations; and production correctors or read-through agents, which promote transcription of CFTR in class I mutations. The further development of such approaches offers great promise for future therapeutic strategies in cystic fibrosis. PMID:26403534

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

    PubMed

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

    2016-01-01

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

  4. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

    NASA Astrophysics Data System (ADS)

    Rich, Devra P.; Anderson, Matthew P.; Gregory, Richard J.; Cheng, Seng H.; Paul, Sucharita; Jefferson, Douglas M.; McCann, John D.; Klinger, Katherine W.; Smith, Alan E.; Welsh, Michael J.

    1990-09-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in cultured cystic fibrosis airway epithelial cells and Cl- channel activation assessed in single cells using a fluorescence microscopic assay and the patch-clamp technique. Expression of CFTR, but not of a mutant form of CFTR (ΔF508), corrected the Cl- channel defect. Correction of the phenotypic defect demonstrates a causal relationship between mutations in the CFTR gene and defective Cl- transport which is the hallmark of the disease.

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

    NASA Astrophysics Data System (ADS)

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

    1994-10-01

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

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

    PubMed

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

    2016-07-01

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

  7. CT and MR imaging for evaluation of cystic renal lesions and diseases.

    PubMed

    Wood, Cecil G; Stromberg, LeRoy J; Harmath, Carla B; Horowitz, Jeanne M; Feng, Chun; Hammond, Nancy A; Casalino, David D; Goodhartz, Lori A; Miller, Frank H; Nikolaidis, Paul

    2015-01-01

    Cystic renal lesions are commonly encountered in abdominal imaging. Although most cystic renal lesions are benign simple cysts, complex renal cysts, infectious cystic renal disease, and multifocal cystic renal disease are also common phenomena. The Bosniak classification system provides a useful means of categorizing cystic renal lesions but places less emphasis on their underlying pathophysiology. Cystic renal diseases can be categorized as focal, multifocal, or infectious lesions. Diseases that manifest with focal lesions, such as cystic renal cell carcinoma, mixed epithelial and stromal tumor, and cystic nephroma, are often difficult to differentiate but have differing implications for follow-up after resection. Multifocal cystic renal lesions can be categorized as acquired or heritable. Acquired entities, such as glomerulocystic kidney disease, lithium-induced nephrotoxicity, acquired cystic kidney disease, multicystic dysplastic kidney, and localized cystic renal disease, often have distinct imaging and clinical features that allow definitive diagnosis. Heritable diseases, such as autosomal dominant polycystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis, are usually easily identified and have various implications for patient management. Infectious diseases have varied imaging appearances, and the possibility of infection must not be overlooked when assessing a cystic renal lesion. A thorough understanding of the spectrum of cystic renal disease will allow the radiologist to make a more specific diagnosis and provide the clinician with optimal recommendations for further diagnostic testing and follow-up imaging. PMID:25590393

  8. New antimicrobial strategies in cystic fibrosis.

    PubMed

    van Westreenen, Mireille; Tiddens, Harm A W M

    2010-12-01

    With more antibiotic resistance and emerging pathogens in cystic fibrosis (CF) patients, the need for new strategies in the lifelong treatment of pulmonary infection has increased. Most of the focus is on chronic infection with Pseudomonas aeruginosa, which is still thought to be the main pathogen leading to advanced CF lung disease. Other bacterial species are also recognized in the pathogenesis of CF lung disease, even though their definitive role is not well established yet. Clearly, expansion of treatment options is urgently needed. This article focuses on recent developments in the field of new antimicrobial strategies for CF. It is clear that studies on new classes of antibiotics or antimicrobial-like drugs are scarce, and that most studies involve new (inhalation) formulations, new routes of delivery, or analogs of existing classes of antibiotics. Studies of new antibiotic-like drugs are, in most cases, in preclinical phases of development and only a few of these agents may reach the market. Importantly, new inhaled antibiotics, e.g. aztreonam, levofloxacin, and fosfomycin, and new, more efficient delivery systems such as dry powder inhalation and liposomes for current antibiotics are in the clinical phase of development. These developments will be of great importance in improving effective treatment and reducing the treatment burden for CF patients in the near future. PMID:21028914

  9. Cystic fibrosis: newborn screening in America.

    PubMed

    Kleven, Daniel T; McCudden, Christopher R; Willis, Monte S

    2008-07-01

    Cystic fibrosis is the most common lethal genetic disease in Caucasians, manifesting as progressive lung dysfunction, pancreatic insufficiency, and intestinal disease. CF was traditionally diagnosed clinically, either because of a family history or occurrence of meconium ileus, or as a result of intestinal malabsorption and chronic pulmonary disease. In 1979, it was discovered that immunoreactive trypsinogen was increased in neonatal dried-blood specimens on Guthrie cards, making it possible to screen neonates. During the past decades, survival rates of patients with CF have improved significantly (see Figure 5). To continue this progress, universal newborn screening has been implemented in many states as an addition to the arsenal of therapies and strategies to improve survival. National newborn-screening programs to identify CF patients after birth have been adopted for a number of years in Europe, Australia, and Canada. As expected, many benefits have been seen due to the early identification of CF patients, including improved survival, better lung function and growth with less intensive therapy, and reduced cost of therapy. To date, 37 states in the United States have adopted similar programs, in the hopes of improving CF outcomes. This welcome trend should help improve the lives of CF patients living in America. PMID:18717498

  10. Lentiviral Vectors and Cystic Fibrosis Gene Therapy

    PubMed Central

    Castellani, Stefano; Conese, Massimo

    2010-01-01

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

  11. Cystic fibrosis and estrogens: a perfect storm

    PubMed Central

    Zeitlin, Pamela L.

    2008-01-01

    Irreversible destruction and widening of the airways due to acquired infections or genetic mutations as well as those of unknown cause are more severe in females. Differences between male and female anatomy, behavior, and hormonal state have been proposed to explain the increased incidence and severity in females with airway disease such as cystic fibrosis (CF); however, a mechanism to explain a sex-related difference has remained elusive. In this issue of the JCI, Coakley et al. report that elevations in the major estrogen hormone in humans — 17β-estradiol — reduce Ca2+-activated Cl– secretion by airway epithelial cells in culture, thereby disrupting ion and water balance (see the related article beginning on page 4025). They measure a similar diminution of nasal epithelial Ca2+-activated Cl– secretion in women with CF during the menstrual cycle phase at which 17β-estradiol level is at its highest. These data suggest that for about one week of a four-week menstrual cycle, women with CF will have a reduced ability to efficiently clear airway secretions, the buildup of which is a hallmark of CF. The authors suggest that these data warrant the testing of antiestrogen therapy in females with CF and propose an alternative avenue for CF therapeutic development. PMID:19033654

  12. Cephalexin pharmacokinetics in patients with cystic fibrosis.

    PubMed

    Nahata, M C; Lubin, A H; Visconti, J A

    1984-01-01

    Pharmacokinetics of cephalexin were studied in 7 pediatric and 4 adult patients with cystic fibrosis (CF) and 4 normal adult volunteers. Cephalexin, 250-500 mg, was given as a single dose in suspension. The area under the cephalexin serum concentration-time curve normalized for dose per kilogram averaged 0.185, 0.242, and 0.272 ml/min/kg-1 in pediatric CF patients, adult CF patients, and normal adults, respectively (p greater than 0.05). A threefold interindividual variation was observed in cephalexin renal clearance in CF patients. Renal clearance of cephalexin averaged 5.85 ml/min/kg in pediatric and 4.61 ml/min/kg in adult CF patients (p greater than 0.05). Elimination half-life of cephalexin averaged 0.74, 0.76, and 1.04 h in pediatric patients, adult patients, and normal adults (p greater than 0.05). Cephalexin was well absorbed based on a mean 24-hour urinary recovery of 89 and 93% in pediatric and adult patients. A trend for higher renal clearance of cephalexin was observed among pediatric compared to adult patients. These results indicate that clearance of cephalexin may not increase in patients with CF of minimal severity characterized by an excellent Shwachman score. PMID:6468223

  13. Lessons learned from the cystic fibrosis pig.

    PubMed

    Meyerholz, David K

    2016-07-01

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

  14. Infection, inflammation and exercise in cystic fibrosis

    PubMed Central

    2013-01-01

    Regular exercise is positively associated with health. It has also been suggested to exert anti-inflammatory effects. In healthy subjects, a single exercise session results in immune cell activation, which is characterized by production of immune modulatory peptides (e.g. IL-6, IL-8), a leukocytosis and enhanced immune cell functions. Upon cessation of exercise, immune activation is followed by a tolerizing phase, characterized by a reduced responsiveness of immune cells. Regular exercise of moderate intensity and duration has been shown to exert anti-inflammatory effects and is associated with a reduced disease incidence and viral infection susceptibility. Specific exercise programs may therefore be used to modify the course of chronic inflammatory and infectious diseases such as cystic fibrosis (CF). Patients with CF suffer from severe and chronic pulmonary infections and inflammation, leading to obstructive and restrictive pulmonary disease, exercise intolerance and muscle cachexia. Inflammation is characterized by a hyper-inflammatory phenotype. Patients are encouraged to engage in exercise programs to maintain physical fitness, quality of life, pulmonary function and health. In this review, we present an overview of available literature describing the association between regular exercise, inflammation and infection susceptibility and discuss the implications of these observations for prevention and treatment of inflammation and infection susceptibility in patients with CF. PMID:23497303

  15. Cystic fibrosis on the African continent.

    PubMed

    Stewart, Cheryl; Pepper, Michael S

    2016-07-01

    Cystic fibrosis (CF; OMIM 219700) is a life-shortening and costly autosomal recessive disease that has been most extensively studied in individuals of Caucasian descent. There is ample evidence, however, that it also affects other ethnicities. In Africa there have been several reports of CF, but there has been no concerted effort toward establishing the molecular epidemiology of this disease on the continent, which is the first step toward outlining a public health strategy to effectively address the needs of these patients. A literature search revealed reports from only 12 of the 54 African states on the molecular analysis of the mutations present in suspected CF patients, resulting in the identification of 79 mutations. Based on previous functional investigations, 39 of these cause CF, 10 are of varying clinical consequence, 4 have no associated evidence regarding whether they cause CF, 4 are synonymous, 5 are novel, and 21 are unique to Africa. We propose that CF be more thoroughly investigated on the continent to ensure that the public health needs of African CF patients-both those in Africa and those of African descent living elsewhere-are met.Genet Med 18 7, 653-662. PMID:26656651

  16. Economic Impact of Cystic Echinococcosis in Peru

    PubMed Central

    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

  17. The Evolution of Cystic Fibrosis Care.

    PubMed

    Pittman, Jessica E; Ferkol, Thomas W

    2015-08-01

    Cystic fibrosis (CF) is the most common life-limiting inherited illness of whites. Most of the morbidity and mortality in CF stems from impaired mucociliary clearance leading to chronic, progressive airways obstruction and damage. Significant progress has been made in the care of patients with CF, with advances focused on improving mucociliary clearance, minimizing inflammatory damage, and managing infections; these advances include new antimicrobial therapies, mucolytic and osmotic agents, and antiinflammatory treatments. More recently, researchers have targeted disease-causing mutations using therapies to promote gene transcription and improve channel function, which has led to impressive physiologic changes in some patients. As we develop more advanced, allele-directed therapies for the management of CF, it will become increasingly important to understand the specific genetic and environmental interactions that cause the significant heterogeneity of lung disease seen in the CF population. This understanding of CF endotypes will allow for more targeted, personalized therapies for future patients. This article reviews the genetic and molecular basis of CF lung disease, the treatments currently available, and novel therapies that are in development. PMID:25764168

  18. New and Emerging Treatments for Cystic Fibrosis.

    PubMed

    Barry, Peter J; Jones, Andrew M

    2015-07-01

    Recently, a significant number of additional key medications have become licensed in Europe for the treatment of patients with cystic fibrosis (CF), including a number of inhaled antibiotics, such as nebulised aztreonam and dry powder versions of colistin and tobramycin for inhalation; dry powder inhaled mannitol, an agent to improve airway hydration and aid airway clearance; and ivacaftor, an oral therapy that directly acts on dysfunctional CFTR to correct the basic defect encountered in CF patients with the G551D CF gene mutation. The marked success of ivacaftor both in clinical trials and in post-licensing evaluation studies in treating patients with G551D and other gating mutations has greatly encouraged the ongoing development of similar therapies that can directly target the underlying cause of CF. Other therapies, including a number of anti-infectives, anti-inflammatories and replacement pancreatic enzymes, are currently undergoing clinical studies. This article reviews those treatments that have been recently licensed for CF and highlights some of the exciting emerging therapies presently under evaluation in clinical trials. In addition, it discusses some of the potential challenges being encountered by research and clinical teams in developing and delivering treatments for this condition. PMID:26091951

  19. Patient-reported Outcomes in Cystic Fibrosis

    PubMed Central

    Goss, Christopher H.; Quittner, Alexandra L.

    2007-01-01

    Over the past 20 years, there has been tremendous progress in the area of patient-reported outcomes (PROs). A PRO instrument is defined as any measure of a patient's health status that is elicited directly from the patient and assesses how the patient “feels or functions with respect to his or her health condition.” The advances seen in clinical research regarding PROs has been mirrored in research in cystic fibrosis (CF). A large number of instruments have been used for both therapeutic and nontherapeutic clinical research for many chronic conditions. This review will summarize a history of the development of PROs and how PROs are viewed by the U.S. Food and Drug Administration. We will then review the current state of the art of patient-reported outcomes in CF, specifically addressing the evaluation of different PRO instruments in terms of their reliability and validity. Finally, we will delineate further areas for development of PROs in CF. We believe that the future of CF research will incorporate a more diverse selection of PRO outcome measures; these outcome measures ultimately may be incorporated into clinical care to standardize symptom assessment and provide information regarding the need for specific clinical interventions to improve the quality of care delivered to these patients. PMID:17652505

  20. Cystic fibrosis, atopy, and airways lability.

    PubMed Central

    Silverman, M; Hobbs, F D; Gordon, I R; Carswell, F

    1978-01-01

    In a survey of cystic fibrosis (CF) in the Avon area, 48 children with CF from 40 families together with 71 of their parents were studied by spirometry, exercise tests, and pinch tests. A control group of 42 young adults was similarly tested; control data for children were taken from previously published work. The prevalence of atopy (any positive prick test) in children with CF was 48%. Sensitivity to grass pollens and house dust mite was no more common in these children (29%) than in a normal population (34%). Hypersensitivity to Aspergillus fumigatus was found in 35% of children with CF and was associated with severe lung disease. The parents had a normal pattern and prevalence of atopy. Exercise-induced airways obstruction was present in only 22% of children with CF; its association with severe lung disease rendered interpretation difficult. The parents had a normal response to exercise. Both hypersensitivity to A. fumigatus and exercise-induced airways lability had the features of acquired characteristics. There was nothing in the present study to support the hypothesis that the possession of a CF gene predisposed to atopy. PMID:365112

  1. Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

    PubMed Central

    Farrell, Philip M.; Rosenstein, Beryl J.; White, Terry B.; Accurso, Frank J.; Castellani, Carlo; Cutting, Garry R.; Durie, Peter R.; Legrys, Vicky A.; Massie, John; Parad, Richard B.; Rock, Michael J.; Campbell, Preston W.

    2009-01-01

    Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF. PMID:18639722

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

    PubMed

    Derichs, Nico

    2013-03-01

    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. PMID:23457166

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

    PubMed

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

    2016-02-21

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

  4. Endoscopic approach to the diagnosis of pancreatic cystic tumor.

    PubMed

    Kawaguchi, Yoshiaki; Mine, Tetsuya

    2016-02-15

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

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

    PubMed Central

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

    2016-01-01

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

  6. Cystic fibrosis in Sudanese children: First report of 35 cases

    PubMed Central

    Ibrahim, Salah A; Fadl Elmola, Munadhil A; Karrar, Zain A; Arabi, Ali M E; Abdullah, Mohamed A; Ali, Sulafa K; Elawad, Fathelrahman; Ali, Tag Elsir A; Abdulrahman, Mashair B; Ahmed, Salma O; Gundi, Abelrazzag S

    2014-01-01

    Cystic fibrosis is the most common severe genetic disorder among children of European descent. It is much less common in Africans and Asians. It affects most critically the lungs causing chronic lung disease, failure to thrive and social deprivation. This is a retrospective review of 35 Sudanese patients with confirmed cystic fibrosis. About 60% of cases presented before the age of 5 years and male to female ratio was 1.7:1.0. Consanguinity was reported in 25 of the families. The main presenting features were productive cough, wheeze and clubbing. The chest X-ray showed variable degrees of hyperinflation, collapse, cystic, fibrotic changes and bronchiectasis involving both upper and lower lobes with blurring of cardiac border and hilar vasculature in the majority of cases. The sweat chloride was between 70 and 140 mmol/l in 83% of the patients (positive > 60 mmol/l). Three patients underwent DNA study and confirmed to have cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. Gene study was not available for the rest of the patients. To our knowledge this is the first report of confirmed cases of cystic fibrosis in Sudanese patients. PMID:27493388

  7. The value of sonography in determining cystic duct patency.

    PubMed

    McGrath, F P; Gibney, R G; Burhenne, H J

    1992-07-01

    A prospective blinded comparison of ultrasonography (US) and oral cholecystography (OCG) was performed in 100 patients with symptomatic gall-stones to determine whether US would enable an accurate assessment of cystic duct patency to be made. Patency of the cystic duct was defined as gall-bladder opacification on OCG or a greater than 20% decrease in gall-bladder volume by US post-fatty meal. The ellipsoid method of volume measurement was used. Any patient who had a non-opacified gall-bladder on OCG but a greater than 20% volume decrease on US had cholescintigraphy performed (DISIDA). Oral cholecystography demonstrated cystic duct patency in 88 patients (88%), and fatty-meal gall-bladder US met the specified study criteria for patency in 86 patients (86%). False negative results were identified in four of the OCG and in six of the US examinations. The results of this study indicate that gall-bladder sonography with a post-fatty meal contraction of greater than 20% is a very accurate predictor of cystic duct patency. A contraction of less than 20%, however, cannot be considered a reliable predictor of cystic duct occlusion. PMID:1643780

  8. Schwannoma With Cystic Changes in the Pterygomandibular Space.

    PubMed

    Chung, Dong-Young; Sharma, Aditi; Choi, So-Young; Paeng, Jun-Young

    2016-03-01

    Schwannomas are tumors that arise from Schwann cells. Although schwannomas can occur almost anywhere in the body where nerve cells are present, they rarely occur in the head and neck region, including the oral and maxillofacial region. Cystic changes in schwannomas are extremely rare. This report is on a case of schwannoma with cystic changes that occurred in the pterygomandibular space.A 46-year-old woman presented with a complaint of limited mouth opening and pain on the left side of the mandible for 3 months. On panoramic radiography, radiolucency was seen on the left mandibular ramus. On enhanced computed tomography, a 4 × 3 cm cystic mass was found along the inner side of the left mandibular ramus area. Magnetic resonance imaging showed a multiseptated, well-demarcated cystic lesion on the inner side of the mandibular ramus on the left side. Under general anesthesia, the tumor was excised. The final diagnosis was schwannoma with cystic changes. Lower lip hypoesthesia occurred postoperatively. At the 1-year postoperative follow-up, maximum mouth opening was increased to 44 mm, and lip hypoesthesia was improved. PMID:26967099

  9. Endoscopic approach to the diagnosis of pancreatic cystic tumor

    PubMed Central

    Kawaguchi, Yoshiaki; Mine, Tetsuya

    2016-01-01

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

  10. MicroRNAs in the pathogenesis of cystic kidney disease

    PubMed Central

    Phua, Yu Leng; Ho, Jacqueline

    2015-01-01

    Purpose of review Cystic kidney diseases are common renal disorders characterized by the formation of fluid-filled epithelial cysts in the kidneys. The progressive growth and expansion of the renal cyst replaces existing renal tissue within the renal parenchyma, leading to reduced renal function. While several genes have been identified in association with inherited causes of cystic kidney disease, the molecular mechanisms that regulate these genes in the context of post-transcriptional regulation are still poorly understood. There is Increasing evidence that miRNA dysregulation is associated with the pathogenesis of cystic kidney disease. Recent findings In this review, recent studies that implicate dysregulation of miRNA expression in cystogenesis will be discussed. The relationship of specific specific miRNAs, such as the miR-17~92 cluster and cystic kidney disease, miR-92a and von Hippel-Lindau (VHL) syndrome, and alterations in LIN28-LET7 expression in Wilms tumor will be explored. Summary At present, there are no specific treatments available for patients with cystic kidney disease. Understanding and identifying specific miRNAs involved in the pathogenesis of these disorders may have the potential to lead to the development of novel therapies and biomarkers. PMID:25490692

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

    ERIC Educational Resources Information Center

    Strawhacker, MaryAnn Tapper; Wellendorf, Joyce

    2004-01-01

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

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

    PubMed

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

    2016-01-01

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

  13. Cystic carcinoma of the breast: a trap for the unwary.

    PubMed Central

    Ravichandran, D.; Carty, N. J.; al-Talib, R. K.; Rubin, C.; Royle, G. T.; Taylor, I.

    1995-01-01

    Cystic breast masses are a common presentation to breast clinics. While the majority of cysts can be managed by simple aspiration, a small proportion are malignant. Histology records for a 10-year period have been examined to identify patients with cystic breast carcinomas. In all, 31 patients were identified. Of these, 18 had cystic degeneration of high-grade tumours, while 13 had intracystic papillary carcinoma. Both of these tumour types were diagnosed by a combination of cyst fluid cytology and breast imaging. The prognosis of high-grade tumours was poor, while that of intracystic papillary carcinomas was excellent. After cyst aspiration, bloodstained fluid should be sent for cytology and breast imaging arranged in all patients. Patients in whom a cyst refills within 2 week of aspiration require a careful re-evaluation. Cysts in postmenopausal women should be viewed with suspicion. Excision should be performed in patients with positive cytology or imaging. Images Figure 1 PMID:7793801

  14. The Difficult Paediatric Airway: Two Cases of large Cystic Hygroma

    PubMed Central

    Agarwal, Aditya; Mehrotra, Shikha

    2016-01-01

    This is a report of a two cases of difficult intubation experienced in paediatric surgical cases. Both the infants, aged one and three-month-old respectively, had very large cystic hygroma of the neck area. Prior hematological and radiological investigations (USG and CT scan of the swelling) and preanaesthesia check up was done and cases were posted for surgical excision. Case I had difficult airway due to pressure of the tumour/cystic hygroma over the airway and posed difficulty for intubation, but was managed well. Case II had respiratory distress during preoperative period. She had been postponed for surgical excision of the cystic hygroma of neck twice due to the difficulties experienced during intubation. Needle aspiration of hygroma fluid helped to reduce the respiratory distress, and the size of the tumour as well, which further helped in the smooth intubation after a week. The postoperative period was uneventful in both the infants. PMID:26894158

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  17. Mechanisms of the noxious inflammatory cycle in cystic fibrosis

    PubMed Central

    Rottner, Mathilde; Freyssinet, Jean-Marie; Martínez, M Carmen

    2009-01-01

    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. PMID:19284656

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

    PubMed

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

    2015-10-01

    Cystic Fibrosis is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene resulting in abnormal protein function. Recent advances of targeted molecular therapies and high throughput screening have resulted in multiple drug therapies that target many important mutations in the CFTR protein. In this review, we provide the latest results and current progress of CFTR modulators for the treatment of cystic fibrosis, focusing on potentiators of CFTR channel gating and Phe508del processing correctors for the Phe508del CFTR mutation. Special emphasis is placed on the molecular basis underlying these new therapies and emerging results from the latest clinical trials. The future directions for augmenting the rescue of Phe508del with CFTR modulators are also emphasized. PMID:26097168

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

    PubMed

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

    2015-01-01

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

  20. Cystic fibrosis: nutritional consequences and management.

    PubMed

    Dodge, John A; Turck, Dominique

    2006-01-01

    Life expectancy for patients with Cystic Fibrosis (CF) has steadily improved during the last three decades, and death in childhood is now uncommon. Nutrition is a critical component of the management of CF, and nutritional status is directly associated with both pulmonary status and survival. Expert dietetic care is necessary, and attention must be given to ensuring an adequate energy intake in the face of demands which may be increased by inadequately controlled malabsorption, chronic broncho-pulmonary colonisation by bacteria and fungi, exacerbations of acute lung infection, impaired lung function, and the need for rehabilitation, repair and growth. Pancreatic enzyme replacement therapy (PERT) is needed by up to 90% of CF patients in Northern Europe, where the 'severe' mutation deltaF508 predominates, but a smaller proportion in Mediterranean countries and elsewhere, because pancreatic insufficiency is one of few features of CF which correlate with genotype. Complications of CF including liver disease and CF-related diabetes pose further challenges. In addition, deficiency of specific nutrients including fat soluble vitamins (particularly A, E and K) essential fatty acids and occasionally minerals occur for a variety of reasons. Osteopenia is common and poorly understood. Liver disease increases the likelihood of vitamin D deficiency. Glucose intolerance and diabetes affect at least 25% of CF adults, and the diabetes differs from both types 1 and 2 diabetes mellitus, but it inversely correlates with prognosis. Management consists of anticipating problems and addressing them vigorously as soon as they appear. Supplements of vitamins are routinely given. Energy supplements can be oral, enteral or, rarely, parenteral. All supplements, including PERT, are adjusted to individual needs. PMID:16782527

  1. The diffusing capacity in adult cystic fibrosis.

    PubMed

    Espiritu, J D; Ruppel, G; Shrestha, Y; Kleinhenz, M E

    2003-06-01

    The value of adjusting the diffusing capacity for the lung volume has been demonstrated in a large number of patients with other lung diseases but has not been validated in patients with cystic fibrosis (CF). Pulmonary function test results on a cohort of 52 adult CF patients were analyzed to determine whether the diffusing capacity of carbon monoxide by single breath method (DLCO(SB)) when adjusted for alveolar volume (V(A)%), correlated with the severity of pulmonary dysfunction. The DLCO(SB) remained within the reference range except in those with severe lung impairment (61.88 +/- 15.48%). DLCO(SB) has a significant (P < 0.05) positive correlation (0.70, 0.67, 048, 0.69 and 0.31, respectively) with measures of airflow limitation (FVC%, FEV1%, FEV1/FVC%, MVV%, and sGaw) and negative correlation (-0.36 and -0.21, respectively) with measures of air trapping (RV% and RV/TLC%). DLCO(SB)/V(A) remained above 100% of predicted despite worsening lung disease and did not correlate with other measures of lung function. On the other hand, the DLCO(SB) and DLCO(SB)/V(A), when adjusted for V(A)%, decreased and were significantly correlated with worsening airflow limitation and, to a lesser extent, air trapping. The relatively preserved adjusted DLCO(SB) and DLCO(SB)/V(A) values in CF patients up until late in its course may be explained the predominant airway involvement, minimal loss of alveolar-capillary units, and enhanced V/Q relationship due to claustration in CF. PMID:12814143

  2. Cystic Fibrosis Therapy: A Community Ecology Perspective

    PubMed Central

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

    2013-01-01

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

  3. Paranasal mucoceles in children with cystic fibrosis.

    PubMed

    Di Cicco, Maurizio; Costantini, Diana; Padoan, Rita; Colombo, Carla

    2005-10-01

    Sinus mucocele is rare in the paediatric age, and so far no prevalence data have been reported in children with Cystic Fibrosis (CF). Moreover, safety and efficacy of endoscopic management of sinus mucoceles has been widely proven but only in the adult population. The aim of our study was to evaluate the prevalence of this complication and the efficacy of endoscopic sinus surgery in CF patients during the initial years of life. Among the 242 CF patients born in the period between 1990 and 2001 and in regular follow up at our CF Centre, 90 patients with possible symptoms of chronic upper airways disease (CUAD) underwent a comprehensive ENT examination including rhinofibroscopy. In selected cases a CT scan of the paranasal sinuses was also performed. CUAD was diagnosed in 55/90 because of the consistent presence of nasal obstruction, combined with at least two other nasal symptoms such as chronic nasal discharge, snoring, epiphora. Diagnosis of mucoceles (five maxillary bilateral mucoceles, one maxillary unilateral, three maxillary and etmoidal mucoceles) was done by means of CT scan in 9/15 who performed the examination. Median age at the diagnosis was 4+/-0.5 years, ranging from 0.5+/-7 years, showing a prevalence of 16.4% (9/55) among patients with symptoms. Endoscopic sinus surgery was performed in all the cases. The follow-up period ranged from 3 months to 6 years with no recurrence observed. Sinus mucocele in CF population is less unusual than expected and a high degree of suspicion is needed. Endoscopic sinus surgery seems to be a safe and efficient treatment of this complication also in a paediatric population at a high risk as for the CF patients. PMID:15939485

  4. Chronic rhinosinusitis in cystic fibrosis (mucoviscidosis).

    PubMed

    Brihaye, P; Jorissen, M; Clement, P A

    1997-01-01

    The authors present two clinical studies performed in the ENT departments of two Belgian Universities. A total of 248 patients with mucoviscidosis (cystic fibrosis, CF) were assessed by means of nasal endoscopy. One hundred eighteen underwent computed tomography of the paranasal sinuses (CT) and 55 were endoscopically operated. This allowed the observation of different clinical patterns of rhinosinusitis: mucopyosinusitis (pseudomucocele) of the maxillary antrum with bulging of the lateral nasal wall (LNW), nasal polyposis with erosion of the LNW, and chronic purulent rhinosinusitis with an isolated prominent uncinate process. The treatment of those patients could be tailored to the individual clinical pattern. Medical therapy consisted of systemic antibiotics and topical drugs delivered by sprays or by lavages with a nose can. Surgery was mainly aimed at removing the massive polyposis when it interfered with the daily life activities. The use of the endoscope enabled to perform safely more extensive procedures resulting in a lower recurrence rate. In patients with chronic rhinosinusitis without polyposis, yet presenting ostiomeatal obstruction, a limited and more functional endoscopic surgery was indicated in order to restore some drainage and to improve the penetration of topical drugs into the affected sinus. A short addendum presents two studies: one about genetics and the other about prevalence of middle ear disease in CF. The first concluded that no clear correlation was found between DF508 (the most common CF mutation) and nasal polyposis. The second revealed that in contrast with the extremely high prevalence of sinus problems, there was no clear evidence of an increased prevalence of middle ear disease in CF. PMID:9444379

  5. Evidence for a Cystic Fibrosis Enteropathy

    PubMed Central

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

    2015-01-01

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

  6. Novel molecular approaches to cystic fibrosis gene therapy

    PubMed Central

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

    2005-01-01

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

  7. CT and US Findings of Multilocular Cystic Renal Cell Carcinoma

    PubMed Central

    Kim, Kie Hwan; Lee, Jun Woo

    2000-01-01

    Objective Multilocular cystic renal cell carcinoma (MCRCC) is a recently described variety of renal cell carcinoma with characteristic pathologic and clinical features. The purpose of this study was to analyze the imaging findings of MCRCCs. Materials and Methods Ten adult patients with pathologically proven unilateral MCRCC who underwent renal US and CT were included in this study. The radiologic findings were retrospectively evaluated for cystic content, wall, septum, nodularity, calcification and solid portion by three radiologists who established a consensus. Imaging and postnephrectomy pathologic findings were compared. Results All patients were adults (six males and four females) and their ages ranged from 33 to 68 years (mean, 46). On US and CT images, all tumors appeared as well-defined multilocular cystic masses composed of serous or complicated fluid. In all patients, unenhanced CT scans revealed hypodense cystic portions, and in four tumors, due to the presence of hemorrhage or gelatinous fluid, some hyperdense areas were also noted. In no tumor was an expansile solid nodule seen in the thin septa, and in only one was there dystrophic calcification in a septum. Small areas of solid portion constituting less than 10% of the entire lesion were found in six of the ten tumors, and these areas were slightly enhanced on enhanced CT scans. In all patients, imaging and pathologic findings correlated closely. Conclusion On US and CT images, MCRCC appeared as a well-defined multilocular cystic mass with serous, proteinaceous or hemorrhagic fluid, with no expansile solid nodules in the thin septa, and sometimes with small slightly enhanced solid areas. Where radiologic examinations demonstrate a cystic renal mass of this kind in adult males, MCRCC should be included in the differential diagnosis. PMID:11752938

  8. Effects of Obstructive Sleep Apnea in Children as a Result of Adenoid and/or Adenotonsillar Hypertrophy on Maternal Psychologic Status.

    PubMed

    Ozbay, Isa; Ozturk, Ahmet; Kucur, Cuneyt; Erdogan, Onur; Oghan, Fatih

    2015-11-01

    The authors aimed to evaluate the effects of obstructive sleep apnea in children as a result of adenoid and/or adenotonsillar hypertrophy on maternal psychologic status. The study sample comprised the mothers of 66 children aged 3 to 15 years (mean age: 7.55 ± 2.94 years) who were scheduled to undergo curette adenoidectomy or adenotonsillectomy because of airway obstruction. The mothers completed the 14-item Hospital Anxiety and Depression Scale (HADS), 20-item State-Trait Anxiety Inventory-1 (STAI-1), and 20-item State-Trait Anxiety Inventory-2 (STAI-2) questionnaires before the operation and 10 days afterwards. Mothers who were under psychiatric treatment or declined to fill the questionnaires were excluded from the study. The results obtained postoperatively by day 10, when all the children had considerable improvement in their breathing, were analyzed as control data. The mean postoperative HAD-A and HAD-D scores of the mothers were significantly lower than the mean preoperative scores (P < 0.001). Mothers' mean STAI-1 and STAI-2 scores were also significantly lower postoperatively (P < 0.001). Pediatric adenoidectomy or adenotonsillectomy to relieve airway obstruction has a beneficial effect not only on the health of pediatric patients but also on the psychologic status of their mothers. PMID:26501971

  9. Interactions Between DNA and Actin in Model Cystic Fibrosis Sputum

    NASA Astrophysics Data System (ADS)

    Kyung, Hee; Sanders, Lori; Angelini, Thomas; Butler, John; Wong, Gerard

    2003-03-01

    Cystic fibrosis sputum is a complex fluid which has a high concentration of DNA and F-actin, two anionic biological polyelectrolytes. In this work, we study the interactions between DNA and actin in an aqueous environment over a wide range of polyelectrolyte lengths and salt levels, using synchrotron Small Angle X-ray Scattering(SAXS) and confocal microscopy. Perliminary results indicate the existence of a compressed phase of nematic F-actin in the presence of DNA. This work was supported by NSF DMR-0071761, the Beckman Young Investigator Program, and the Cystic Fibrosis Foundation.

  10. Cystic fibrosis genetics: from molecular understanding to clinical application

    PubMed Central

    Cutting, Garry R.

    2015-01-01

    The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethalautosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the d iscove1y of the disease-causing gene. PMID:25404111

  11. Peripheral Calcifying Cystic Odontogenic Tumour - A Rare Case Report

    PubMed Central

    Shenoi, Ramakrishna; Gadve, Vandana; Rajderkar, Anand; Dive, Alka

    2015-01-01

    Odontogenic lesions are derived from remnants of the components of the developing tooth germ. The calcifying cystic odontogenic tumour (CCOT) is a benign cystic neoplasm of odontogenic origin that is characterized by ameloblastoma-like epithelial cells and ghost cells. Most peripheral CCOTs are located in the anterior gingiva of the mandible or maxilla. This is a rare case report of CCOT. The rare feature in our case was its peripheral nature of existence and its location in the left buccal vestibule and retromolar region. Based on the radiological, cytological and histopathological findings the lesion was surgically excised. PMID:26393218

  12. Anesthetic management of a large cystic hygroma in a newborn

    PubMed Central

    Rao, Kaushik Seetharam; Shenoy, Thrivikram

    2015-01-01

    Cystic hygroma is a congenital benign tumor occurring due to the accumulation of lymph and during its anesthetic management difficulties are known to be encountered. A newborn baby presented with a massive swelling in the front of the neck. It was an antenatally diagnosed case of cystic hygroma with intraoral extension proving to be an anticipated difficult airway. Following inhalational induction, mask ventilation was possible, and the child was successfully intubated. Intra-operative period was uneventful, and the tumor was completely excised. Postoperatively, the child was ventilated for 24 h in view of anticipated airway edema. PMID:26417143

  13. The porcine lung as a potential model for cystic fibrosis

    PubMed Central

    Rogers, Christopher S.; Abraham, William M.; Brogden, Kim A.; Engelhardt, John F.; Fisher, John T.; McCray, Paul B.; McLennan, Geoffrey; Meyerholz, David K.; Namati, Eman; Ostedgaard, Lynda S.; Prather, Randall S.; Sabater, Juan R.; Stoltz, David Anthony; Zabner, Joseph; Welsh, Michael J.

    2008-01-01

    Airway disease currently causes most of the morbidity and mortality in patients with cystic fibrosis (CF). However, understanding the pathogenesis of CF lung disease and developing novel therapeutic strategies have been hampered by the limitations of current models. Although the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) has been targeted in mice, CF mice fail to develop lung or pancreatic disease like that in humans. In many respects, the anatomy, biochemistry, physiology, size, and genetics of pigs resemble those of humans. Thus pigs with a targeted CFTR gene might provide a good model for CF. Here, we review aspects of porcine airways and lung that are relevant to CF. PMID:18487356

  14. The porcine lung as a potential model for cystic fibrosis.

    PubMed

    Rogers, Christopher S; Abraham, William M; Brogden, Kim A; Engelhardt, John F; Fisher, John T; McCray, Paul B; McLennan, Geoffrey; Meyerholz, David K; Namati, Eman; Ostedgaard, Lynda S; Prather, Randall S; Sabater, Juan R; Stoltz, David Anthony; Zabner, Joseph; Welsh, Michael J

    2008-08-01

    Airway disease currently causes most of the morbidity and mortality in patients with cystic fibrosis (CF). However, understanding the pathogenesis of CF lung disease and developing novel therapeutic strategies have been hampered by the limitations of current models. Although the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) has been targeted in mice, CF mice fail to develop lung or pancreatic disease like that in humans. In many respects, the anatomy, biochemistry, physiology, size, and genetics of pigs resemble those of humans. Thus pigs with a targeted CFTR gene might provide a good model for CF. Here, we review aspects of porcine airways and lung that are relevant to CF. PMID:18487356

  15. Neuro-folliculo-sebaceous cystic hamartoma is a unique entity.

    PubMed

    Samaka, Rehab Monir; Alrahabi, Nasser

    2015-03-01

    Folliculosebaceous cystic hamartoma (FSCH) is a distinct type of cutaneous hamartoma of pilosebaceous origin that usually occurs on the face. For FSCH, other parts have been reported such as the genital area, and the trunk. A 50-year-old woman presented with an asymptomatic dome-shaped scalp nodule. The clinical diagnosis was pilar cyst or tumor. Histopathological assessment showed FSCH with absolute neural component as the only mesenchymal stroma, leading to the diagnosis of folliculosebaceous cystic neural hamartoma. To the best of our knowledge, absolute neural stroma in FSCH has not been reported previously in the literature. PMID:26017884

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

    PubMed Central

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

    2011-01-01

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

  17. Cystic fibrosis genetics: from molecular understanding to clinical application.

    PubMed

    Cutting, Garry R

    2015-01-01

    The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene. PMID:25404111

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

    PubMed

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

    2016-01-01

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

  19. Clinical Practice Guidelines From the Cystic Fibrosis Foundation for Preschoolers With Cystic Fibrosis.

    PubMed

    Lahiri, Thomas; Hempstead, Sarah E; Brady, Cynthia; Cannon, Carolyn L; Clark, Kelli; Condren, Michelle E; Guill, Margaret F; Guillerman, R Paul; Leone, Christina G; Maguiness, Karen; Monchil, Lisa; Powers, Scott W; Rosenfeld, Margaret; Schwarzenberg, Sarah Jane; Tompkins, Connie L; Zemanick, Edith T; Davis, Stephanie D

    2016-04-01

    Cystic fibrosis (CF) clinical care guidelines exist for the care of infants up to age 2 years and for individuals ≥6 years of age. An important gap exists for preschool children between the ages of 2 and 5 years. This period marks a time of growth and development that is critical to achieve optimal nutritional status and maintain lung health. Given that disease often progresses in a clinically silent manner, objective and sensitive tools that detect and track early disease are important in this age group. Several challenges exist that may impede the delivery of care for these children, including adherence to therapies. A multidisciplinary committee was convened by the CF Foundation to develop comprehensive evidence-based and consensus recommendations for the care of preschool children, ages 2 to 5 years, with CF. This document includes recommendations in the following areas: routine surveillance for pulmonary disease, therapeutics, and nutritional and gastrointestinal care. PMID:27009033

  20. Cystic Fibrosis: A Novel Pharmacologic Approach to Cystic Fibrosis Transmembrane Regulator Modulation Therapy.

    PubMed

    Virant-Young, Deborah; Thomas, Justin; Woiderski, Sarah; Powers, Michelle; Carlier, Joseph; McCarty, James; Kupchick, Tyler; Larder, Anthony

    2015-09-01

    Therapy for cystic fibrosis (CF) has progressed during the past several decades. Much of this progress is because of advances in genetic testing to precisely identify the underlying cause of CF transmembrane regulator (CFTR) dysfunction. However, with more than 1900 mutations that can produce a faulty CFTR, the management of CF can remain a challenge. Several innovative drugs recently approved by the Food and Drug Administration, termed genetic modulators, target the underlying disease by modulating the CFTR defect. This review provides physicians with an established simple classification scheme to guide their use of these drugs. The treatment challenge of 1900 CFTR mutations has been simplified into 6 physiologic classes, each paired with an available therapy to offer patients the most functional improvement. Drug therapy monitoring, adverse effects, and indications for discontinuation must also be considered. PMID:26322933

  1. Peritumoral cystic meningioma: A report of two cases and review of the literature

    PubMed Central

    WANG, PENGFEI; HAN, SONG; LIU, NING; YU, CHUNJIANG; QI, XUELING; ZHU, MINGWANG; ZHANG, XIANGQIAN; WANG, LI; YAN, CHANGXIANG

    2016-01-01

    The present study reported two cases of cystic meningioma. The clinical manifestations, magnetic resonance imaging (MRI) scan and histological aspects of the lesion and the associated cyst were examined. The classification of cystic meningioma was also discussed. The present study focused on the formation, diagnosis and management of the peritumoral cystic meningioma, and aimed to clarify certain contradictions in the literature concerning the formation of the peritumoral cyst meningioma: MRI alone is inadequate to determine the type of cystic meningioma, or to identify neoplastic cells on the cystic wall. In conclusion, surgical removal of the entire cyst is recommended in peritumoral cyst meningioma. PMID:26998010

  2. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

    PubMed

    Abdul Wahab, A; Al Thani, G; Dawod, S T; Kambouris, M; Al Hamed, M

    2001-04-01

    Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar. PMID:11336127

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

    SciTech Connect

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

    1995-07-03

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

  4. Colloid (mucinous non-cystic) carcinoma of the pancreas: A case report

    PubMed Central

    GAO, YANG; ZHU, YA-YUN; YUAN, ZHOU

    2015-01-01

    Colloid carcinoma (CC) of the pancreas, also known as mucinous non-cystic carcinoma, is a rare histological variant of pancreatic cancer. The present study reports the case of a 65-year-old male with a pancreatic head tumor 4.6×3.1 cm in size. The tumor had not invaded the superior mesenteric or celiac arteries. Laboratory data showed elevated alkaline phosphatase, γ-gluytamyl transpeptidase and cancer antigen 19-9 (CA19-9) levels. The patient underwent a pancreaticoduodenectomy (PD), and the pathology revealed CC extending to the submucosa of the duodenum, with mild atypical hyperplasia of the pancreatic duct. The patient was negative for circulating tumor cells, indicating a good prognosis. The CA19-9 concentration decreased to within the normal range following surgery. The present study reports a rare case of CC of the pancreas presenting with obstructive jaundice, in which a PD procedure was performed. Primary surgical treatment with curative intent is the optimal management and this subtype of pancreatic cancer is associated with a better prognosis compared with pancreatic ductal adenocarcinoma. PMID:26722311

  5. Pancreatic Cystosis in Two Adolescents with Cystic Fibrosis.

    PubMed

    Hatziagorou, Elpis; Kampouras, Asterios; Sidiropoulou, Maria; Markou, Andreas; Anastasiou, Athanasia; Tsanakas, John

    2016-01-01

    We present pancreatic cystosis in two adolescents with cystic fibrosis, a 13-year-old girl and an 18-year-old boy. In pancreatic cystosis, which is a rare manifestation of CF, the pancreatic parenchyma is replaced with multiple cysts of different sizes. Pancreatic cystosis is mainly an imaging based diagnosis and frequent follow-up should be recommended. PMID:27110419

  6. THE METABOLIC EFFECTS OF PREGNANCY IN CYSTIC FIBROSIS

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  7. Treatment of pulmonary exacerbations in cystic fibrosis - could do better?

    PubMed

    Smyth, Alan

    2016-08-01

    This article describes the nature and significance of pulmonary exacerbations in cystic fibrosis (CF). The effectiveness and safety of current exacerbation treatment are explored. The article concludes with a summary of clinical trials (completed and ongoing) which aim to improve the efficacy and safety of exacerbation treatment. PMID:27349725

  8. Delayed diagnosis of cystic fibrosis due to normal sweat electrolytes.

    PubMed Central

    Doughty, I M; Ward, I; Schwarz, M; David, T J

    1995-01-01

    The sweat test, if properly performed, is a reliable tool to assist in the diagnosis of cystic fibrosis. In practice, most errors arise from false positive results. This case serves as a reminder that false negatives may also occur. PMID:7562815

  9. CFTR Modulators for the Treatment of Cystic Fibrosis.

    PubMed

    Pettit, Rebecca S; Fellner, Chris

    2014-07-01

    Defects in a single gene lead to the defective proteins that cause cystic fibrosis, making the disease an ideal candidate for mutation-targeted therapy. Although ivacaftor is currently the only FDA-approved CFTR modifier, others are in development. PMID:25083129

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

    ERIC Educational Resources Information Center

    Waller, Mike

    2001-01-01

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

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

    PubMed Central

    2011-01-01

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

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

    PubMed

    Li, Li; Somerset, Shawn

    2014-10-01

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

  13. Students as Technicians: Screening Newborns for Cystic Fibrosis

    ERIC Educational Resources Information Center

    Gusky, Sharon

    2014-01-01

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

  14. Pancreatic Cystosis in Two Adolescents with Cystic Fibrosis

    PubMed Central

    Hatziagorou, Elpis; Kampouras, Asterios; Sidiropoulou, Maria; Markou, Andreas; Anastasiou, Athanasia; Tsanakas, John

    2016-01-01

    We present pancreatic cystosis in two adolescents with cystic fibrosis, a 13-year-old girl and an 18-year-old boy. In pancreatic cystosis, which is a rare manifestation of CF, the pancreatic parenchyma is replaced with multiple cysts of different sizes. Pancreatic cystosis is mainly an imaging based diagnosis and frequent follow-up should be recommended. PMID:27110419

  15. Outcome of Multi-Cystic Dysplastic Kidneys in Children

    PubMed Central

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

    2015-01-01

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

  16. New and emerging targeted therapies for cystic fibrosis

    PubMed Central

    Rowe, Steven M

    2016-01-01

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

  17. New and emerging targeted therapies for cystic fibrosis.

    PubMed

    Quon, Bradley S; Rowe, Steven M

    2016-01-01

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

  18. 78 FR 26681 - Medical Criteria for Evaluating Cystic Fibrosis

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-07

    ... we published in the Federal Register on February 4, 2013 (78 FR 7968). We use Listings 3.04 and 103... ADMINISTRATION RIN 0960-AF58 Medical Criteria for Evaluating Cystic Fibrosis AGENCY: Social Security... additional information regarding this teleconference, please contact Cheryl Williams, Office of...

  19. Cystic ovarian follicles and thyroid activity in the dairy cow.

    PubMed

    Mutinati, M; Rizzo, A; Sciorsci, R L

    2013-05-01

    Thyroid activity affects the functionality of the reproductive axis and thyroid dysfunction has been associated with ovarian hyperstimulation syndrome and polycystic ovarian syndrome, in human medicine. This study investigates serum17- estradiol, progesterone, thyrotropic and thyroid hormone levels, in cyclic dairy cows on heat (Group H) and in dairy cows with ovarian follicular cysts (Group FC). Both 17- estradiol and progesterone serum concentrations were statistically higher in cystic than in cyclic cows (estradiol: 8.51±1.91 vs 6.32±1pg/mL) (progesterone: 0.49±0.17 vs 0.13±0.03ng/mL), whereas TSH and fT4 serum concentrations were statistically lower in cows with cystic ovarian follicles (COF), compared to cyclic ones (TSH: 2.48±1.31 vs 3.56±1.03ng/mL) (fT4: 5.86±1.69 vs 8.63±1.08). fT3 serum levels were similar, in both cystic and cyclic subjects (2.94±0.65 vs 3.02±0.9, respectively). Based on these results it was decided to examine the function of the thyrothropic axis of dairy cows in a similar manner to that conducted on humans. If severe hypothyroidism should be found, a hormone replacement therapy could be attempted in cystic cows refractory to "ordinary" therapies. PMID:23567219

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

    PubMed Central

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

    2011-01-01

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