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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. 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.

  4. Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer

    PubMed Central

    Fusco, Nicola; Geyer, Felipe C; De Filippo, Maria R; Martelotto, Luciano G; Ng, Charlotte K Y; Piscuoglio, Salvatore; Guerini-Rocco, Elena; Schultheis, Anne M; Fuhrmann, Laetitia; Wang, Lu; Jungbluth, Achim A; Burke, Kathleen A; Lim, Raymond S; Vincent-Salomon, Anne; Bamba, Masamichi; Moritani, Suzuko; Badve, Sunil S; Ichihara, Shu; Ellis, Ian O; Reis-Filho, Jorge S; Weigelt, Britta

    2016-01-01

    Adenoid cystic carcinoma of the breast is a rare histologic type of triple-negative breast cancer with an indolent clinical behavior, often driven by the MYB-NFIB fusion gene. Here we sought to define the repertoire of somatic genetic alterations in two adenoid cystic carcinomas associated with high-grade triple-negative breast cancer. The different components of each case were subjected to copy number profiling and massively parallel sequencing targeting all exons and selected regulatory and intronic regions of 488 genes. Reverse transcription PCR and fluorescence in situ hybridization were employed to investigate the presence of the MYB-NFIB translocation. The MYB-NFIB fusion gene was detected in both adenoid cystic carcinomas and their associated high-grade triple-negative breast cancer components. Whilst the distinct components of both cases displayed similar patterns of gene copy number alterations, massively parallel sequencing analysis revealed intra-tumor genetic heterogeneity. In case 1, progression from the trabecular adenoid cystic carcinoma to the high-grade triple-negative breast cancer was found to involve clonal shifts with enrichment of mutations affecting EP300, NOTCH1, ERBB2 and FGFR1 in the high-grade triple-negative breast cancer. In case 2, a clonal KMT2C mutation was present in the cribriform adenoid cystic carcinoma, solid adenoid cystic carcinoma and high-grade triple-negative breast cancer components, whereas a mutation affecting MYB was present only in the solid and high-grade triple-negative breast cancer areas and additional three mutations targeting STAG2, KDM6A and CDK12 were restricted to the high-grade triple-negative breast cancer. In conclusion, adenoid cystic carcinomas of the breast with high-grade transformation are underpinned by MYB-NFIB fusion gene, and, akin to other forms of cancer, may be constituted by a mosaic of cancer cell clones at diagnosis. The progression from adenoid cystic carcinoma to high-grade triple

  5. Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer.

    PubMed

    Fusco, Nicola; Geyer, Felipe C; De Filippo, Maria R; Martelotto, Luciano G; Ng, Charlotte K Y; Piscuoglio, Salvatore; Guerini-Rocco, Elena; Schultheis, Anne M; Fuhrmann, Laetitia; Wang, Lu; Jungbluth, Achim A; Burke, Kathleen A; Lim, Raymond S; Vincent-Salomon, Anne; Bamba, Masamichi; Moritani, Suzuko; Badve, Sunil S; Ichihara, Shu; Ellis, Ian O; Reis-Filho, Jorge S; Weigelt, Britta

    2016-11-01

    Adenoid cystic carcinoma of the breast is a rare histological type of triple-negative breast cancer with an indolent clinical behavior, often driven by the MYB-NFIB fusion gene. Here we sought to define the repertoire of somatic genetic alterations in two adenoid cystic carcinomas associated with high-grade triple-negative breast cancer. The different components of each case were subjected to copy number profiling and massively parallel sequencing targeting all exons and selected regulatory and intronic regions of 488 genes. Reverse transcription PCR and fluorescence in situ hybridization were employed to investigate the presence of the MYB-NFIB translocation. The MYB-NFIB fusion gene was detected in both adenoid cystic carcinomas and their associated high-grade triple-negative breast cancer components. Although the distinct components of both cases displayed similar patterns of gene copy number alterations, massively parallel sequencing analysis revealed intratumor genetic heterogeneity. In case 1, progression from the trabecular adenoid cystic carcinoma to the high-grade triple-negative breast cancer was found to involve clonal shifts with enrichment of mutations affecting EP300, NOTCH1, ERBB2 and FGFR1 in the high-grade triple-negative breast cancer. In case 2, a clonal KMT2C mutation was present in the cribriform adenoid cystic carcinoma, solid adenoid cystic carcinoma and high-grade triple-negative breast cancer components, whereas a mutation affecting MYB was present only in the solid and high-grade triple-negative breast cancer areas and additional three mutations targeting STAG2, KDM6A and CDK12 were restricted to the high-grade triple-negative breast cancer. In conclusion, adenoid cystic carcinomas of the breast with high-grade transformation are underpinned by the MYB-NFIB fusion gene and, akin to other forms of cancer, may be constituted by a mosaic of cancer cell clones at diagnosis. The progression from adenoid cystic carcinoma to high-grade triple

  6. Adenoid Cystic Carcinoma

    MedlinePlus

    ... Care Survivorship Questions to Ask the Doctor Additional Resources View All Pages Cancer.Net provides timely, comprehensive, oncologist-approved information from the American Society of Clinical Oncology (ASCO), with ... the expertise and resources of ASCO to people living with cancer and ...

  7. Whole exome sequencing of adenoid cystic carcinoma

    PubMed Central

    Stephens, Philip J.; Davies, Helen R.; Mitani, Yoshitsugu; Van Loo, Peter; Shlien, Adam; Tarpey, Patrick S.; Papaemmanuil, Elli; Cheverton, Angela; Bignell, Graham R.; Butler, Adam P.; Gamble, John; Gamble, Stephen; Hardy, Claire; Hinton, Jonathan; Jia, Mingming; Jayakumar, Alagu; Jones, David; Latimer, Calli; McLaren, Stuart; McBride, David J.; Menzies, Andrew; Mudie, Laura; Maddison, Mark; Raine, Keiran; Nik-Zainal, Serena; O’Meara, Sarah; Teague, Jon W.; Varela, Ignacio; Wedge, David C.; Whitmore, Ian; Lippman, Scott M.; McDermott, Ultan; Stratton, Michael R.; Campbell, Peter J.; El-Naggar, Adel K.; Futreal, P. Andrew

    2013-01-01

    Adenoid cystic carcinoma (ACC) is a rare malignancy that can occur in multiple organ sites and is primarily found in the salivary gland. While the identification of recurrent fusions of the MYB-NFIB genes have begun to shed light on the molecular underpinnings, little else is known about the molecular genetics of this frequently fatal cancer. We have undertaken exome sequencing in a series of 24 ACC to further delineate the genetics of the disease. We identified multiple mutated genes that, combined, implicate chromatin deregulation in half of cases. Further, mutations were identified in known cancer genes, including PIK3CA, ATM, CDKN2A, SF3B1, SUFU, TSC1, and CYLD. Mutations in NOTCH1/2 were identified in 3 cases, and we identify the negative NOTCH signaling regulator, SPEN, as a new cancer gene in ACC with mutations in 5 cases. Finally, the identification of 3 likely activating mutations in the tyrosine kinase receptor FGFR2, analogous to those reported in ovarian and endometrial carcinoma, point to potential therapeutic avenues for a subset of cases. PMID:23778141

  8. Adenoid cystic carcinoma of breast: Recent advances

    PubMed Central

    Miyai, Kosuke; Schwartz, Mary R; Divatia, Mukul K; Anton, Rose C; Park, Yong Wook; Ayala, Alberto G; Ro, Jae Y

    2014-01-01

    Adenoid cystic carcinoma (ACC) of the breast is a rare special subtype of breast cancer characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. Most breast cancers with triple-negative, basal-like breast features (i.e., tumors that are devoid of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 expression, and express basal cell markers) are generally high-grade tumors with an aggressive clinical course. Conversely, while ACCs also display a triple-negative, basal-like phenotype, they are usually low-grade and exhibit an indolent clinical behavior. Many discoveries regarding the molecular and genetic features of the ACC, including a specific chromosomal translocation t(6;9) that results in a MYB-NFIB fusion gene, have been made in recent years. This comprehensive review provides our experience with the ACC of the breast, as well as an overview of clinical, histopathological, and molecular genetic features. PMID:25516849

  9. A unifying gene signature for adenoid cystic cancer identifies parallel MYB-dependent and MYB-independent therapeutic targets.

    PubMed

    Gao, Ruli; Cao, Chunxia; Zhang, Min; Lopez, Maria-Cecilia; Yan, Yuanqing; Chen, Zirong; Mitani, Yoshitsugu; Zhang, Li; Zajac-Kaye, Maria; Liu, Bin; Wu, Lizi; Renne, Rolf; Baker, Henry V; El-Naggar, Adel; Kaye, Frederic J

    2014-12-30

    MYB activation is proposed to underlie development of adenoid cystic cancer (ACC), an aggressive salivary gland tumor with no effective systemic treatments. To discover druggable targets for ACC, we performed global mRNA/miRNA analyses of 12 ACC with matched normal tissues, and compared these data with 14 mucoepidermoid carcinomas (MEC) and 11 salivary adenocarcinomas (ADC). We detected a unique ACC gene signature of 1160 mRNAs and 22 miRNAs. MYB was the top-scoring gene (18-fold induction), however we observed the same signature in ACC without detectable MYB gene rearrangements. We also found 4 ACC tumors (1 among our 12 cases and 3 from public databases) with negligible MYB expression that retained the same ACC mRNA signature including over-expression of extracellular matrix (ECM) genes. Integration of this signature with somatic mutational analyses suggests that NOTCH1 and RUNX1 participate with MYB to activate ECM elements including the VCAN/HAPLN1 complex. We observed that forced MYB-NFIB expression in human salivary gland cells alters cell morphology and cell adhesion in vitro and depletion of VCAN blocked tumor cell growth of a short-term ACC tumor culture. In summary, we identified a unique ACC signature with parallel MYB-dependent and independent biomarkers and identified VCAN/HAPLN1 complexes as a potential target.

  10. Sinonasal adenoid cystic carcinoma presenting as an orbital mass.

    PubMed

    Kwon, Robert O; Lyon, David B; Floyd, Michael; Girod, Douglas A

    2010-01-01

    A 61-year-old man with a history of sinus polyposis and prior sinus surgery presented with left-sided retrobulbar pain and headache. He was found to have left-sided proptosis, and imaging studies showed a large left medial orbital soft-tissue mass. Incisional biopsy revealed adenoid cystic carcinoma. Further evaluation revealed extensive sinonasal adenoid cystic carcinoma. The patient underwent en bloc maxillectomy with orbital exenteration and partial rhinectomy, followed by radiation therapy. The medial orbit is an unusual location for adenoid cystic carcinoma, which the authors believe was a secondary manifestation due to perineural spread from the sinuses via the ethmoidal nerves. Adenoid cystic carcinoma should be included in the differential diagnosis of tumors of the medial orbit, especially if there is a history of sinonasal disease.

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

    PubMed

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

    2012-01-01

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

  12. Adenoid Cystic Carcinoma of the Skull Base

    PubMed Central

    Issing, Peter R.; Hemmanouil, Ilias; Stöver, Timo; Kempf, Hans-Georg; Wilkens, L.; Heermann, R.; Lenarz, Thomas

    1999-01-01

    Adenoid cystic carcinoma (ACC) is a slowly growing tumor with a particular tendency to infiltrate the surrounding tissue by perineural spread. The clinical diagnosis may prove difficult due to the submucons extension of the tumor, especially at the skull base. This article outlines the clinical characteristics, diagnostics, and treatment modalities in a series of 56 patients with an ACC in the head and neck diagnosed between 1970 and 1998 in 32 females and 24 males. The youngest patient was aged 24 years, the oldest 77 years. The average age was 54 years. In 16 patients the tumor originated in the paranasal sinuses or the nasopharynx and involved the skull base. As a rule, several months passed between the manifestation of the first symptoms such as pain, blocked nose, epistaxis, or diplopia and the initial clinical diagnosis. All patients received surgical treatment, however, complete microscopical resection could only be achieved in approximately one third of the cases. Therefore, nine patients were postoperatively treated with radiotherapy. The average survival rates of the patients with an ACC of the skull base were only 99 months as compared to 144 months in the patients without skull base involvement. ImagesFigure 1 PMID:17171116

  13. An Unusual Presentation of Adenoid Cystic Carcinoma

    PubMed Central

    Gill, Kurren S.; Frattali, Mark A.

    2015-01-01

    Adenoid cystic carcinoma (ACC) is a relatively rare tumor of epithelial cell origin, most commonly arising from major salivary glands. It is uncommonly found outside the major or minor salivary glands and is especially rare when located in the nasal cavity. Diagnosis and treatment of ACC pose numerous challenges, partly due to its biological behavior of slow growth, high tendency of local recurrence, and perineural invasion. We present the case of a 67-year-old male with complaints of facial pain and swelling, with a CT scan showing a soft tissue mass extending from the right nasal cavity with osseous destruction. Biopsy revealed ACC with perineural invasion. ACC of the nasal cavity continues to pose diagnostic and therapeutic challenges to physicians. Because this rare pathology presents in a vague manner, early diagnosis requires a high index of suspicion for this disease and close follow-up care. Since ACC of the nasal cavity is seldom reported in the literature, it is our hope that reporting these rare instances as case reports will heighten physician awareness of this rare disease, allowing for early diagnosis and treatment. PMID:26819792

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

    PubMed

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

    2017-01-01

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

  15. 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

  16. Adenoid Cystic Carcinoma of the Breast: A Clinical Case Report

    PubMed Central

    Kocaay, Akin Firat; Celik, Suleyman Utku; Hesimov, Ilkin; Eker, Tevfik; Percinel, Sibel; Demirer, Seher

    2016-01-01

    Introduction: Adenoid cystic carcinoma (ACC) is an uncommon tumor of the breast, accounting for approximately 0.1% to 1% of all breast cancers. It is characterized by rare lymph node involvement and distant metastasis, and associated with a favorable prognosis with excellent survival, despite its triple-negative status. In the current state of knowledge, results of breast-conserving treatment with postoperative radiotherapy seem to be equivalent to mastectomy alone, with respect to survival for ACC of the breast. Due to its rarity, there is no consensus on optimal treatment for patients with ACC. Otherwise, the role of chemotherapy and hormonal therapy remains controversial. Further clinical studies are required to compare treatment options for ACC. But, a long-term follow-up is very important and mandatory for affected patients, due to the late onset of local relapse and occurrence of distant metastasis. Case report: Here, we report the case of a patient who presented with a palpable breast mass in the left breast that turned out to be an ACC of the breast. PMID:27994304

  17. Adenoid cystic carcinoma: emerging role of translocations and gene fusions

    PubMed Central

    Wysocki, Piotr T.; Izumchenko, Evgeny; Meir, Juliet; Ha, Patrick K.; Sidransky, David; Brait, Mariana

    2016-01-01

    Adenoid cystic carcinoma (ACC), the second most common salivary gland malignancy, is notorious for poor prognosis, which reflects the propensity of ACC to progress to clinically advanced metastatic disease. Due to high long-term mortality and lack of effective systemic treatment, the slow-growing but aggressive ACC poses a particular challenge in head and neck oncology. Despite the advancements in cancer genomics, up until recently relatively few genetic alterations critical to the ACC development have been recognized. Although the specific chromosomal translocations resulting in MYB-NFIB fusions provide insight into the ACC pathogenesis and represent attractive diagnostic and therapeutic targets, their clinical significance is unclear, and a substantial subset of ACCs do not harbor the MYB-NFIB translocation. Strategies based on detection of newly described genetic events (such as MYB activating super-enhancer translocations and alterations affecting another member of MYB transcription factor family-MYBL1) offer new hope for improved risk assessment, therapeutic intervention and tumor surveillance. However, the impact of these approaches is still limited by an incomplete understanding of the ACC biology, and the manner by which these alterations initiate and drive ACC remains to be delineated. This manuscript summarizes the current status of gene fusions and other driver genetic alterations in ACC pathogenesis and discusses new therapeutic strategies stemming from the current research. PMID:27533466

  18. Adenoid Cystic Carcinoma of the Uterine Cervix: A Report of 2 Cases

    PubMed Central

    Kharmoum, Jinane; Ech-Charif, Soumaya; El Khannoussi, Basma

    2017-01-01

    Adenoid cystic carcinoma is malignant tumor that exceptionally occurs in the uterine cervix. It is mostly seen in postmenopausal women and has an aggressive clinical course. We report two cases of an adenoid cystic carcinoma associated with a high grade squamous intraepithelial lesion and invasive squamous cell carcinoma of the uterine cervix and discuss briefly its clinical and pathological characteristics. PMID:28348909

  19. Genomic landscape of adenoid cystic carcinoma of the breast

    PubMed Central

    Martelotto, Luciano G; De Filippo, Maria R; Ng, Charlotte KY; Natrajan, Rachael; Fuhrmann, Laetitia; Cyrta, Joanna; Piscuoglio, Salvatore; Wen, Huei-Chi; Lim, Raymond S; Shen, Ronglai; Schultheis, Anne M; Wen, Y Hannah; Edelweiss, Marcia; Mariani, Odette; Stenman, Göran; Chan, Timothy A; Colombo, Pierre-Emmanuel; Norton, Larry; Vincent-Salomon, Anne; Reis-Filho, Jorge S; Weigelt, Britta

    2015-01-01

    Adenoid cystic carcinoma (AdCC) is a rare type of triple-negative breast cancer (TNBC) characterized by the presence of the MYB-NFIB fusion gene. The molecular underpinning of breast AdCCs other than the MYB-NFIB fusion gene remains largely unexplored. Here we sought to define the repertoire of somatic genetic alterations of breast AdCCs. We performed whole exome sequencing, followed by orthogonal validation, of 12 breast AdCCs to determine the landscape of somatic mutations and gene copy number alterations. Fluorescence in situ hybridization and reverse transcription PCR were used to define the presence of MYB gene rearrangements and MYB-NFIB chimeric transcripts. Unlike common forms of TNBC, we found that AdCCs have a low mutation rate (0.27 non-silent mutations/Mb), lack mutations in TP53 and PIK3CA, and display a heterogeneous constellation of known cancer genes affected by somatic mutations, including MYB, BRAF, FBXW7, SMARCA5, SF3B1 and FGFR2. MYB and TLN2 were affected by somatic mutations in two cases each. Akin to salivary gland AdCCs, breast AdCCs were found to harbor mutations targeting chromatin remodeling, cell adhesion, RNA biology, ubiquitination, and canonical signaling pathway genes. We observed that although breast AdCCs had rather simple genomes, they likely display intra-tumor genetic heterogeneity at diagnosis. Taken together, these findings demonstrate that the mutational burden and mutational repertoire of breast AdCCs are more similar to those of salivary gland AdCCs than to those of other types of TNBCs, emphasizing the importance of histologic subtyping of TNBCs. Furthermore, our data provide direct evidence that AdCCs harbor a distinctive mutational landscape and genomic structure, irrespective of disease site of origin. PMID:26095796

  20. Adenoid cystic carcinoma - Clinical presentation and cytological diagnosis.

    PubMed

    Dutta, N N; Baruah, R; Das, L

    2002-01-01

    Adenoid cystic carcinoma is a tumor arising from the minor salivary glands, the palate being the commonest site. It accounts for about 1% of all head and neck malignancies. We report a case with the typical presentation of a palatal growth with extensive intra-cranial invasion. The diagnosis of this case and a brief review of literature is discussed. Final diagnosis of this case was made from cytological reports. The dry smears stained with MGG were found to be definitely superior to the alcohol fixed slides stained with papanicolaou. The aim here is to highlight the importance of cytology in the diagnosis of such tumors.

  1. Adenoid cystic carcinoma of the sublingual gland: A case report

    PubMed Central

    2016-01-01

    Adenoid cystic carcinoma (ACC) of the sublingual gland is an extremely rare neoplasm. The clinicopathological characteristics of ACC are slow-growing swelling with or without ulceration, perineural spread, local recurrence, and distant metastasis. This report describes a 58-year-old male who had a slowly growing swelling without ulceration on the right side of the mouth floor that had been present for 1 month. In a radiological examination, the mass showed multilocular cystic features and no bony or tongue muscle invasion. No enlarged cervical lymph nodes were detected. Excisional biopsy and histological analysis showed that the lesion was ACC. In addition to reporting a rare case of ACC, this report also discusses the differential diagnosis and treatment of ACC with a review of the relevant literature. PMID:28035309

  2. 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

  3. Expression of ERBB3 binding protein 1 (EBP1) in salivary adenoid cystic carcinoma and its clinicopathological relevance

    PubMed Central

    2012-01-01

    Background ERBB3 binding protein 1 (EBP1) gene transfer into human salivary adenoid cystic carcinoma cells has been shown to significantly inhibit cell proliferation and reduce tumor metastasis in mouse models. In the current study, to evaluate if EBP1 is a novel biomarker capable of identifying patients at higher risk of disease progression and recurrence, we examined the EBP1 expression profile in adenoid cystic carcinoma (ACC) patients and analyzed its clinicopathological relevance. To understand the underlying anti-metastatic mechanism, we investigated if EBP1 regulates invasion-related molecules. Methods We performed immunohistochemical analysis on 132 primary adenoid cystic carcinoma and adjacent non-cancerous tissues using commercial EBP1, MMP9, E-cadherin and ICAM-1 antibodies. Results were correlated to clinicopathological parameters, long-term survival and invasion-related molecules by statistical analysis. Cell motility and invasiveness of vector or wild-type EBP1-transfected ACC-M cell lines were evaluated using wound healing and Boyden chamber assays. MMP9, E-cadherin and ICAM-1 proteins in these cell lines were detected using western blot assay. Results The expression of EBP1 was significantly higher in non-cancerous adjacent tissues compared with corresponding cancer tissues. The intensity and percentage of cells that reacted with EBP1 antibodies were significantly higher in cases with tubular pattern than those with solid pattern (P<0.0001). We also found adenoid cystic carcinoma with local lymphatic metastasis had significantly lower EBP1 expression than ACC with no local lymphatic node metastasis (P<0.0001). Similar findings were observed in ACC with lung metastasis compared with cases with no lung metastasis (P<0.0001), in particular, in cases with perineural invasion compared with cases with no perineural invasion (P<0.0001). Furthermore, a decrease in EBP1 expression was positively associated with a reduction in overall survival of ACC patients

  4. 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

  5. An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma

    PubMed Central

    Drier, Yotam; Cotton, Matthew J.; Williamson, Kaylyn E.; Gillespie, Shawn M.; Ryan, Russell J.H.; Kluk, Michael J.; Carey, Christopher D.; Rodig, Scott J.; Sholl, Lynette M; Afrogheh, Amir H.; Faquin, William C.; Queimado, Lurdes; Qi, Jun; Wick, Michael J.; El-Naggar, Adel K.; Bradner, James E.; Moskaluk, Christopher A.; Aster, Jon C.; Knoechel, Birgit; Bernstein, Bradley E.

    2016-01-01

    Translocation events are frequent in cancer and may create chimeric fusions or ‘regulatory rearrangements’ that drive oncogene overexpression. Here we identify super-enhancer translocations that drive overexpression of the oncogenic transcription factor MYB as a recurrent theme in adenoid cystic carcinoma (ACC). Whole-genome sequencing data and chromatin maps reveal distinct chromosomal rearrangements that juxtapose super-enhancers to the MYB locus. Chromosome conformation capture confirms that the translocated enhancers interact with the MYB promoter. Remarkably, MYB protein binds to the translocated enhancers, creating a positive feedback loop that sustains its expression. MYB also binds enhancers that drive different regulatory programs in alternate cell lineages in ACC, cooperating with TP63 in myoepithelial cells and a Notch program in luminal epithelial cells. Bromodomain inhibitors slow tumor growth in ACC primagraft models in vivo. Thus, our study identifies super-enhancer translocations that drive MYB expression and provides insight into downstream MYB functions in the alternate ACC lineages. PMID:26829750

  6. Adenoid Cystic Carcinoma– A rare Differential Diagnosis for a mass in the External Auditory Canal

    PubMed Central

    Shenoy, Vijendra S; Rao, Raghavendra A; Kamath, Panduranga M; Shihab, Haseena

    2015-01-01

    Primary external auditory canal malignancies are very rare; in which, adenoid cystic carcinoma is extremely rare tumour accounting for approximately 5%. Majority of the patients presents with unilateral severe or dull aching constant ear pain of prolonged duration, reduced hearing and mass in the External Ear. These tumours are treated with aggressive surgical excision and adjuvant radiotherapy. Despite this, the overall prognosis is poor due to recurrences and distant metastasis. We report a rare case of adenoid cystic carcinoma in a 36-year-old female, who presented with right ear pain for the last one year. She was treated with wide local excision of the mass followed by adjuvant radiotherapy. PMID:25738012

  7. Adenoid Cystic Carcinoma- A rare Differential Diagnosis for a mass in the External Auditory Canal.

    PubMed

    Prasad, Vishnu; Shenoy, Vijendra S; Rao, Raghavendra A; Kamath, Panduranga M; Shihab, Haseena

    2015-01-01

    Primary external auditory canal malignancies are very rare; in which, adenoid cystic carcinoma is extremely rare tumour accounting for approximately 5%. Majority of the patients presents with unilateral severe or dull aching constant ear pain of prolonged duration, reduced hearing and mass in the External Ear. These tumours are treated with aggressive surgical excision and adjuvant radiotherapy. Despite this, the overall prognosis is poor due to recurrences and distant metastasis. We report a rare case of adenoid cystic carcinoma in a 36-year-old female, who presented with right ear pain for the last one year. She was treated with wide local excision of the mass followed by adjuvant radiotherapy.

  8. 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.

  9. Effect of N-CAM on in vitro invasion of human adenoid cystic carcinoma cells.

    PubMed

    França, C M; Jaeger, R G; Freitas, V M; Araújo, N S; Jaeger, M M

    2001-12-01

    Adenoid cystic carcinoma of salivary glands is characterised by aggressive behaviour, high rate of local recurrences, neurotropism and late metastasis. In a previous work we demonstrated that adenoid cystic carcinoma cultured cells (CAC2 cells) expressed N-CAM. It was suggested that this expression, modulated by extracellular matrix, would be correlated to cell movement. The aim of our study was to verify whether CAC2 cells presented invasion capacity. Moreover, we tested whether the neural adhesion molecule (N-CAM) would participate in this process. CAC2 cells were either previously treated, or not (control), with a monoclonal antibody against N-CAM. Invasion assays were carried out using a modified Boyden chamber (Transwell chamber). CAC2 cells (10(5)) were dispensed into Transwell upper chamber on the top of Matrigel coated filter. The cells that invaded the filters in the first 8 h were counted under light microscopy, yielding data for the invasion rates (%). Control CAC2 cells presented an invasion rate of 5.28+/-0.04%. The invasion rate raised to 6.53+/-0.2% when N-CAM was blocked with monoclonal antibody. N-CAM impaired the adenoid cystic carcinoma cell invasion in vitro. Therefore, we suggest an anti-invasive role for N-CAM in adenoid cystic carcinoma.

  10. Adenoids

    MedlinePlus

    ... care provider thinks that your child has a bacterial infection. In some cases your child may need an ... ear. Antibiotics can't get rid of a bacterial infection The enlarged adenoids block the airways If your ...

  11. Differential expression of aquaporin 5 and aquaporin 3 in squamous cell carcinoma and adenoid cystic carcinoma.

    PubMed

    Ishimoto, Shunsuke; Wada, Koichiro; Usami, Yu; Tanaka, Noriaki; Aikawa, Tomonao; Okura, Masaya; Nakajima, Atsushi; Kogo, Mikihiko; Kamisaki, Yoshinori

    2012-07-01

    Aquaporins (AQPs) are a membrane protein family involved in the selective transport of water across cell membranes. Recent studies have reported the expression of AQP5 in several tumor types such as gastric, pulmonary, ovarian, pancreatic and colorectal cancer. We have previously reported the expression on tumor cells and the important role of AQP3 on cell growth in tongue cancer. However, little is known about the expression and precise role of AQP5 on squamous cell carcinoma (SCC) of the tongue. We investigated the expression of AQP5 and AQP3 in human oral SCC and adenoid cystic carcinoma (ACC). Overexpression of both AQP5 and AQP3 were immunohistochemically observed on tumor cells in SCC, whereas ACC cells were faintly stained with those antibodies against AQPs. Treatment with pan-AQP inhibitor or specific AQP5-siRNA showed inhibition of cell growth in SCC cell lines via the inhibition of integrins and the mitogen-activated protein kinase pathway. AQPs play important roles in cell growth in SCC rather than ACC.

  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. Cytokeratin-14 contributes to collective invasion of salivary adenoid cystic carcinoma

    PubMed Central

    Gao, Xiao-lei; Wu, Jia-shun; Cao, Min-xin; Gao, Shi-yu; Cen, Xiao; Jiang, Ya-ping; Wang, Sha-sha; Tang, Ya-jie; Chen, Qian-ming; Liang, Xin-hua; Tang, Yaling

    2017-01-01

    Collective invasion of cells plays a fundamental role in tissue growth, wound healing, immune response and cancer metastasis. This paper aimed to investigate cytokeratin-14 (CK14) expression and analyze its association with collective invasion in the invasive front of salivary adenoid cystic carcinoma (SACC) to uncover the role of collective invasion in SACC. Here, in the clinical data of 121 patients with SACC, the positive expression of CK14 was observed in 35/121(28.93%) of the invasive front of SACC. CK14 expression in the invasive front, local regional recurrence and distant metastasis were independent and significant prognostic factors in SACC patients. Then, we found that in an ex vivo 3D culture assay, CK14 siRNA receded the collective invasion, and in 2D monolayer culture, CK14 overexpression induced a collective SACC cell migration. These data indicated that the presence of characterized CK14+ cells in the invasive front of SACC promoted collective cell invasion of SACC and may be a biomarker of SACC with a worse prognosis. PMID:28152077

  14. Two Different Cell Populations Is an Important Clue for Diagnosis of Primary Cutaneous Adenoid Cystic Carcinoma: Immunohistochemical Study

    PubMed Central

    Alkan, Banu Ince; Karadeniz, Müjde; Bozdoğan, Nazan

    2017-01-01

    Primary cutaneous adenoid cystic carcinoma (PCACC) is a very rare malignancy. The differential diagnosis of PCACCs in pathology practice can be difficult and a group of primary and metastatic lesions, including adenoid basal cell carcinoma of the skin, should be considered in the differential diagnosis. Besides histomorphological clues, immunohistochemistry studies are very helpful in the differential diagnosis of PCACC. We report herein a case of PCACC with extensive immunohistochemical studies and review the literature from an immunohistochemistry perspective. PMID:28243477

  15. Therapeutic Inhibition of the MDM2-p53 Interaction Prevents Recurrence of Adenoid Cystic Carcinomas.

    PubMed

    Nör, Felipe; Warner, Kristy A; Zhang, Zhaocheng; Acasigua, Gerson A; Pearson, Alexander T; Kerk, Samuel A; Helman, Joseph I; Sant'Ana Filho, Manoel; Wang, Shaomeng; Nör, Jacques E

    2017-02-15

    Purpose: Conventional chemotherapy has modest efficacy in advanced adenoid cystic carcinomas (ACC). Tumor recurrence is a major challenge in the management of ACC patients. Here, we evaluated the antitumor effect of a novel small-molecule inhibitor of the MDM2-p53 interaction (MI-773) combined with cisplatin in patient-derived xenograft (PDX) ACC tumors.Experimental Design: Therapeutic strategies with MI-773 and/or cisplatin were evaluated in SCID mice harboring PDX ACC tumors (UM-PDX-HACC-5) and in low passage primary human ACC cells (UM-HACC-2A, -2B, -5, -6) in vitro The effect of therapy on the fraction of cancer stem cells (CSC) was determined by flow cytometry for ALDH activity and CD44 expression.Results: Combined therapy with MI-773 with cisplatin caused p53 activation, induction of apoptosis, and regression of ACC PDX tumors. Western blots revealed induction of MDM2, p53 and downstream p21 expression, and regulation of apoptosis-related proteins PUMA, BAX, Bcl-2, Bcl-xL, and active caspase-9 upon MI-773 treatment. Both single-agent MI-773 and MI-773 combined with cisplatin decreased the fraction of CSCs in PDX ACC tumors. Notably, neoadjuvant MI-773 and surgery eliminated tumor recurrences during a postsurgical follow-up of more than 300 days. In contrast, 62.5% of mice that received vehicle control presented with palpable tumor recurrences within this time period (P = 0.0097).Conclusions: Collectively, these data demonstrate that therapeutic inhibition of MDM2-p53 interaction by MI-773 decreased the CSC fraction, sensitized ACC xenograft tumors to cisplatin, and eliminated tumor recurrence. These results suggest that patients with ACC might benefit from the therapeutic inhibition of the MDM2-p53 interaction. Clin Cancer Res; 23(4); 1036-48. ©2016 AACR.

  16. 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

  17. Adenoid Cystic Carcinoma of Sublingual Salivary Gland Obstructing the Submandibular Salivary Gland Duct

    PubMed Central

    Kumar, Venkata Suneel; Prathi, Venkata Sarath; Manne, Rakesh Kumar; Beeraka, Swapna; Natarajan, Kannan

    2013-01-01

    Sublingual salivary gland malignancies are extremely rare and account for only 0.3-1% of all epithelial salivary gland tumors. Here, we report a case of adenoid cystic carcinoma (ACC) of the sublingual salivary gland that presented as a swelling in the right anterior floor of the mouth obstructing the submandibular duct. Sublingual salivary gland ACC obstructing the submandibular duct is rare and only three cases have been reported in the literature until date. We discuss the different patterns of ACC seen during the pathologic investigations and its radiologic features. PMID:24516773

  18. 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

  19. Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing

    PubMed Central

    Fusco, Nicola; Colombo, Pierre-Emmanuel; Martelotto, Luciano G.; De Filippo, Maria R.; Piscuoglio, Salvatore; Ng, Charlotte K.Y.; Lim, Raymond S.; Jacot, William; Vincent-Salomon, Anne; Reis-Filho, Jorge S.; Weigelt, Britta

    2015-01-01

    Aims The aims of this study were to perform a whole-exome sequencing analysis of a breast cylindroma and to investigate the role of molecular analyses in the differentiation between breast cylindroma, a benign tumor that displays MYB expression and CYLD gene mutations, and its main differential diagnosis, the breast solid-basaloid adenoid cystic carcinoma, a malignant tumor that is characterized by the presence of the MYB-NFIB fusion gene and MYB overexpression. Methods and Results A 66-year old female underwent quadrantectomy after an irregular dense shadow was discovered in the right breast at the screening mammogram. Histologically, the tumor displayed features suggestive of a solid-basaloid variant of adenoid cystic carcinoma with a differential diagnosis of cylindroma. Fluorescence in situ hybridization, reverse transcription PCR, immunohistochemistry and whole-exome sequencing revealed absence of the MYB-NFIB fusion gene, low levels of MYB protein expression and a clonal somatic CYLD splice site mutation associated with loss of heterozygosity of the wild-type allele. Conclusions The results of the histologic, immunohistochemical and molecular analyses were consistent with a diagnosis of breast cylindroma, providing a proof-of-principle that the integration of histopathologic and molecular approaches can help differentiate between a low-malignant potential and a benign breast tumor of triple-negative phenotype. PMID:25951887

  20. Cytologic characteristics of adenoid cystic carcinoma of the cervix uteri--case report.

    PubMed

    Barisić, Ana; Mahovlić, Vesna; Ovanin-Rakić, Ana; Skopljanac-Macina, Lada; Rajhvajn, Sanda; Juric, Danijela; Babić, Damir

    2010-03-01

    Adenoid cystic carcinoma is a rare malignancy, usually found in the salivary glands, although this unusual tumor can be found at other sites of the body. In particular, regarding adenoid cystic carcinoma of the cervix (ACCC) most frequently reports are given for postmenopausal women. In this respect, our work is one among very few in the literature that considers a cytologic picture of this uncommon cervix carcinoma. The case of 74 year old patient with postmenopausal bleeding is described. Both Pap smear and air dried smear of the uterine cervix were analyzed. The cytologic findings revealed very few small clusters of abnormal glandular cells, as well as some amorphous eosinophilic globule-like material, with granulomatous and necrotic background. The latter includes a lot of histiocytes, multinucleated giant cells, large aggregates of epitheloid cells and lymphocytes. Histology revealed the diagnosis of ACCC. We emphasize the importance of careful screening of Pap smear that might be crucial in the case of suspicious clinical findings in postmenopausal women, when the possibility of ACCC has to be considered.

  1. 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.

  2. 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.

  3. 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.

  4. AGR2 promotes the proliferation, migration and regulates epithelial-mesenchymal transition in salivary adenoid cystic carcinoma

    PubMed Central

    Ma, Si-Rui; Mao, Liang; Deng, Wei-Wei; Li, Yi-Cun; Bu, Lin-Lin; Yu, Guang-Tao; Zhang, Wen-Feng; Sun, Zhi-Jun

    2017-01-01

    Salivary adenoid cystic carcinoma (AdCC) is a common head and neck cancer with the propensity for local spread and distant metastasis. In our previous study, elevated expression of Anterior gradient 2 (AGR2) was detected in head and neck squamous cell carcinoma (HNSCC), associated with epithelial-mesenchymal transition (EMT) and cancer stemness. However, to date, the expression and function of AGR2 in AdCC has yet to be elucidated. In the present study, human AdCC tissue microarrays including 18 cases of normal salivary gland (NSG), 12 cases of pleomorphic adenoma (PMA) and 72 cases of AdCC were employed for immunohistochemical staining analysis. Results indicated that AGR2, which was remarkably correlated with Ki-67, transforming growth factor beta-1 (TGF-β1) and CD147, was significantly elevated in human salivary AdCC tissues. Knockdown of AGR2 significantly repressed the proliferation and migration of human SACC-83 and SACC-LM cell lines. Additionally, AGR2 silencing obviously reversed the EMT phenomena induced by TGF-β1. Taken together, our present study revealed the potential pro-metastasis role of AGR2 in AdCC, indicating that AGR2 might be a novel therapeutic target of AdCC with distant metastasis. PMID:28337279

  5. 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

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

    ClinicalTrials.gov

    2016-11-14

    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

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

    PubMed Central

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

    2014-01-01

    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

  8. Endoscopic approach to the resection of adenoid cystic carcinoma of paranasal sinuses and nasal cavity: case report and own experience.

    PubMed

    Wardas, Piotr; Tymowski, Michał; Piotrowska-Seweryn, Agnieszka; Kaspera, Wojciech; Ślaska-Kaspera, Aleksandra; Markowski, Jarosław

    2015-12-12

    Adenoid cystic carcinoma (ACC) is a rare malignant tumor that might occur in nasal cavity and paranasal sinuses. It is characteristic for poor prognosis, especially the solid histopathological subtype of the tumor. ACC might spread along nerves and fascias and it is usually diagnosed at advanced stage. Computed tomography and magnetic resonance imaging together with fine-needle biopsy are the gold standards in the diagnostic procedure of the cancer. Surgery with adjuvant therapy are the most common methods of treatment. Among the surgical approaches, the functional endonasal sinus surgery seems to be the most appropriate and favorable way of treatment. In the study, the authors present a case of a 62-year-old patient with T4aN0M0 ACC tumor treated endoscopically at the Department of Laryngology and ENT Oncology, WSS No. 5 in Sosnowiec. The authors indicate the usefulness of FESS procedure in the treatment of malignancies of nasal cavity and paranasal sinuses. They also review the recent publications on endonasal versus open approach in similar cases. In conclusions, the authors favor endonasal approach as a mini-invasive method of surgical treatment of ACC of paranasal sinuses that results in satisfactory oncological outcome and high quality of patient's life.

  9. Role of chemotherapy and molecularly targeted agents in the treatment of adenoid cystic carcinoma of the lacrimal gland.

    PubMed

    Le Tourneau, Christophe; Razak, Albiruni R A; Levy, Christine; Calugaru, Valentin; Galatoire, Olivier; Dendale, Rémi; Desjardins, Laurence; Gan, Hui K

    2011-11-01

    Adenoid cystic carcinoma (ACC) is the most common malignant epithelial cancer of the lacrimal gland. Despite a slow rate of growth, ACCs are ultimately associated with poor clinical outcome. Given the rarity of this disease, most recommendations regarding therapy are guided by expert opinion and retrospective data rather than level 1 evidence. Surgery and postoperative radiation therapy are commonly used as initial local treatment. In patients at high risk of recurrence, concomitant platinum-based chemotherapy may be added to postoperative radiotherapy in an attempt to enhance radio-sensitivity. While encouraging responses have been reported with intra-arterial neoadjuvant chemotherapy, this strategy is associated with substantial toxicity and should be considered investigational. For patients with metastatic disease not amenable to surgery or radiotherapy, chemotherapy may have a role based on its modest efficacy in non-lacrimal ACC. Similarly, molecular targeted agents may have a role, although the agents tested to date in non-lacrimal ACC have been disappointing. A better understanding of the biology of ACC will be crucial to the future success of developing targeted agents for this disease.

  10. Apigenin inhibits the proliferation of adenoid cystic carcinoma via suppression of glucose transporter-1.

    PubMed

    Fang, Jin; Bao, Yang-Yang; Zhou, Shui-Hong; Fan, Jun

    2015-11-01

    Apigenin is a natural phyto-oestrogen flavonoid, which exerts various biological effects, including anti‑oxidative, anti‑inflammatory and anticancer activities. In addition, apigenin has recently been reported to target hypoxic markers; however, there are currently no studies regarding the association between apigenin and glucose transporter‑1 (GLUT‑1) in adenoid cystic carcinoma (ACC). The present study investigated whether apigenin inhibits the proliferation of ACC cells or suppresses the expression of GLUT‑1 in ACC cells. The results of the present study demonstrated that apigenin inhibits ACC‑2 cell growth in a dose‑ and time‑dependent manner. Treatment with apigenin also induced apoptosis and G2/M‑phase arrest in a dose‑ and time‑dependent manner. Corresponding with the above results, the expression levels of GLUT‑1 were significantly decreased following treatment in a dose- and time-dependent manner. These results suggest that the inhibition of ACC-2 cell growth by apigenin may be due to the decreased expression of GLUT-1.

  11. New prognostic criterion in adenoid cystic carcinoma of salivary gland origin.

    PubMed

    Santucci, M; Bondi, R

    1989-02-01

    Adenoid cystic carcinoma (ACC) of salivary gland origin shows histologic patterns (tubular, cribriform, solid) that have been correlated with the clinical course of the disease. Recognition of tubular pattern is generally easy. Discrimination between cribriform and solid types leaves some margin for the pathologist's subjective interpretation because it is essentially based on the amount of gland-like spaces, containing mucinous or hyalinized material, which are present in neoplastic nests. To overcome this problem and with the aim of identifying a more objective basis for prognostic evaluation of cribriform and solid ACC, the authors counted the number of gland-like spaces per square millimeter of tumor, excluding supporting stroma and small areas with the tubular pattern, in a group of tumors similar with regard to therapy, stage of disease, and microscopic evidence of tumor-free surgical margins. According to the authors' data, the number of gland-like spaces per square millimeter of tumor appears to be a reliable and objective measure for prognostic evaluation of cribriform and solid pattern ACC; in particular, the greater the number of gland-like spaces per square millimeter of tumor, the longer the survival of the patient.

  12. 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.

  13. Risk factors and prognosis for salivary gland adenoid cystic carcinoma in southern china

    PubMed Central

    Ouyang, Dai-qiao; Liang, Li-zhong; Zheng, Guang-sen; Ke, Zun-fu; Weng, De-sheng; Yang, Wei-fa; Su, Yu-xiong; Liao, Gui-qing

    2017-01-01

    Abstract Adenoid cystic carcinoma (ACC) is characterized by slow growth, frequent local recurrences, and high incidence of distant metastasis (DM). The aim of this study was to evaluate predictive factors for local-regional (LR) recurrence, DM, and survival in ACC. A retrospective review of the medical records for patients with salivary glands ACC from 1990 to 2015 was performed. The clinical parameters were assessed to identify correlations with the development of LR recurrence, DM, and survival of these patients. Among 228 patients who underwent surgery as definitive treatment, 210 (92.1%) were followed up in the study. DM was detected in 64 (30.5%) patients, LR recurrence was detected in 58 (27.6%) patients. The estimated 5, 10, and 15-year overall survival rates were 84.7%, 70.8%, and 34.0%, respectively. Multivariate analysis revealed that the presence of lymphovascular invasion and a high T classification were very strong adverse factors, which independently influenced LR recurrence, DM, and survival of ACC patients. Positive/close margin and N+ status were independent risk factors for DM and LR recurrence, respectively. Survival of ACC patents was also affected by tumor location. Presence of lymphovascular invasion and a high T classification were very strong adverse factors and independent predictors for ACC patients’ prognosis, which influenced LR control, DM control, and survival. PMID:28151884

  14. Fine-needle aspiration diagnosis of high grade adenoid cystic carcinoma metastatic to the pancreas.

    PubMed

    David, Doina; Masineni, Sreeharsha N; Giorgadze, Tamar

    2015-02-01

    Pancreatic tumors are mostly primary tumors, with only rare metastatic tumors described in the literature. Here we report an unusual case of fine-needle aspiration (FNA) diagnosis of high grade adenoid cystic carcinoma of the parotid gland metastatic to the pancreas. The aspirate smears were moderately cellular and revealed numerous basaloid neoplastic cells. The cytomorphologic differential diagnosis included primary pancreatic tumor with small cell morphology as well as metastatic tumors. By immunocytochemistry, the tumor cells were positive for cytokeratins (AE1/AE3, CAM5.2, and CK7), and CD117 (C-KIT), and negative for CD45, WT1, synaptophysin, chromogranin, CD56, TTF-1, and CK20. The cytomorphologic features and immunoprofile in our case were consistent with high-grade carcinoma metastases from patient's known salivary gland primary. To the best of our knowledge, this case is the first reported encounter of FNA diagnosis of pancreatic metastasis with small cell morphology from a salivary gland neoplasm as primary site.

  15. Downregulation of miR-222 Induces Apoptosis and Cellular Migration in Adenoid Cystic Carcinoma Cells.

    PubMed

    Zhou, Ziliang; Zhou, Lijie; Jiang, Fangfang; Zeng, Binghui; Wei, Changbo; Zhao, Wei; Yu, Dongsheng

    2017-01-26

    Previous studies have shown that miR-222 targets the p53 upregulated modulator of apoptosis (PUMA) to regulate cell biological behavior in some human malignancies. We hypothesized that there was a negative regulation, which might induce apoptosis, between miR-222 and PUMA in adenoid cystic carcinoma (ACC). In this study, the expression levels of miR-222 and the PUMA gene after transfection with antisense miR-222 (As-miR-222) were evaluated by RT-PCR and Western blot assays. Cell proliferation and migratory abilities were detected by CCK-8 and Transwell assays. Cell cycle and apoptosis were analyzed by flow cytometry. Our results showed that, when compared with the control and scramble-transfected groups, the expression of miR-222 in the As-miR-222 group was downregulated, while the expression of PUMA at both mRNA and protein levels was upregulated, cell proliferation and migratory abilities were inhibited, and apoptosis was increased. Our results suggested that As-miR-222 transfection could upregulate the expression of PUMA to induce apoptosis in ACC, providing a new concept for the treatment of ACC.

  16. Polymorphous low grade adenocarcinoma has a consistent p63+/p40- immunophenotype that helps distinguish it from adenoid cystic carcinoma and cellular pleomorphic adenoma.

    PubMed

    Rooper, Lisa; Sharma, Rajni; Bishop, Justin A

    2015-03-01

    Polymorphous low grade adenocarcinoma (PLGA) is a tumor of minor salivary glands that exhibits considerable morphologic overlap with adenoid cystic carcinoma and cellular pleomorphic adenoma, especially in small biopsy specimens. Unlike these other tumor types. PLGAs do not harbor a myoepithelial component, yet their frequent positivity for p63 diminishes the usefulness of this particular myoepithelial marker as a discriminating immunostain. p40 is an antibody that recognizes ΔNp63, a p63 isoform that is more specific for true myoepithelial differentiation. As such, p40 immunostaining could help distinguish PLGAs from adenoid cystic carcinomas and pleomorphic adenomas. In this study, p63 and p40 immunohistochemistry was performed on paraffin embedded, formalin fixed tissue from 11 PLGAs, 101 adenoid cystic carcinomas, and 31 pleomorphic adenomas. All 11 PLGAs (100 %) were positive for p63 but completely negative for p40. Among adenoid cystic carcinomas, 91 of 101 (90 %) were positive for p63 and 90/101 (89 %) were positive for p40. The single discordant p63+/p40- adenoid cystic carcinoma exhibited solid architecture and high grade features not typically seen in PLGA. Among pleomorphic adenomas, 21/31 (68 %) were positive for p63 and 13/31 (42 %) were positive for p40. For the pleomorphic adenomas, the discordant p63+/p40- staining pattern was seen only in the overtly mesenchymal chondromyxoid stroma. The cellular epithelial component of the pleomorphic adenomas demonstrated concordant p63+/p40+ or p63-/p40- immunophenotypes. PLGA consistently exhibits a p63+/p40- immunophenotype that can help distinguish it from adenoid cystic carcinoma and cellular pleomorphic adenoma, tumors that characteristically demonstrate concordant p63 and p40 immunostaining patterns. A p63/p40 immunohistochemical panel can provide a valuable tool for making the distinction between these morphologically similar but clinically divergent entities.

  17. 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

  18. Adenoid cystic carcinoma of the breast in the United States (1977 to 2006): a population-based cohort study

    PubMed Central

    2010-01-01

    Introduction Adenoid cystic carcinoma of the breast (breast-ACC) is a rare and special type of basal-like tumor for which scant population-based descriptive data exist. We sought to provide new population-based information on breast-ACC incidence, relative survival, and associated cancer risk in the United States. Methods Using data from the Surveillance, Epidemiology and End Results Program, we calculated age-adjusted incidence rates (IRs), IR ratios (IRRs), and relative survival for breast-ACC, and standardized incidence ratios (SIRs) for other cancers. Results Overall 338 women (IR = 0.92/1 million person-years) were diagnosed with breast-ACC during 1977 to 2006. Blacks had 39% lower IRs than Whites (IRR = 0.61, 95% confidence interval = 0.37 to 0.96), and IRs remained constant over the 30-year period. Ninety-five percent of cases presented with localized stage (n = 320; IR = 0.87), and the highest IRs were observed for estrogen receptor (ER)-negative/progesterone receptor (PR)-negative tumors (IR = 0.56). Like other typically ER-negative tumors, age-specific IRs increased until midlife and then plateaued. Five-year, 10-year, and 15-year relative survival was 98.1%, 94.9%, and 91.4%, respectively. The risk of female breast cancer was not increased following (SIR = 0.89, 95% confidence interval = 0.43 to 1.64) or preceding (SIR = 0.71, 95% confidence interval = 0.28 to 1.46) breast-ACC. Similarly, no association was observed for breast-ACC and risk of all other cancers combined, solid tumors, or lymphohematopoietic malignancies. Conclusions Breast-ACC among women is characterized by ER-negative/PR-negative expression, rare regional lymph node involvement, a favorable prognosis with excellent survival, and absence of associated cancers. These findings reinforce the importance of tailored treatments for breast-ACC and lend credence to the apparent heterogeneity of basal-like breast cancers. PMID:20653964

  19. A Case of Tracheal Adenoid Cystic Carcinoma in a Worker Exposed to Rubber Fumes

    PubMed Central

    2013-01-01

    Background Primary tracheal tumors occur infrequently, accounting for less than 0.1% of all tumors. Adenoid cystic carcinoma (ACC) is the second most common type of malignancy of the trachea after squamous cell carcinoma (SCC). Little has been reported on the risk factors for tracheal ACC. The purpose of this study is to describe a case of tracheal ACC in a patient who had been exposed to rubber fumes, and to review the relationship between tracheal ACC and rubber fumes. Case report A 48-year-old man who had been experiencing aggravation of dyspnea for several months was diagnosed as having ACC of the trachea on the basis of a pathologic examination of a biopsy specimen obtained via laser microscopy-guided resection. The patient had been exposed to rubber fumes for 10 years at a tire manufacturing factory where he worked until ACC was diagnosed. His job involved preheating and changing rubber molds during the curing process. Conclusion ACC of both the trachea and the salivary glands show very similar patterns with regard to histopathology and epidemiology and are therefore assumed to have a common etiology. Rubber manufacturing is an occupational risk factor for the development of salivary gland tumors. Further, rubber fumes have been reported to be mutagenic. The exposure level to rubber fumes during the curing process at the patient’s workplace was estimated to be close to or higher than British Occupational Exposure Limits. Therefore, tracheal ACC in this case might have been influenced by occupational exposure to rubber fumes. PMID:24472110

  20. High-molecular-weight fibronectin synthesized by adenoid cystic carcinoma cells of salivary gland origin.

    PubMed

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

    1999-03-01

    To understand the morphogenesis of characteristic cribriform structures and the frequent invasion of salivary adenoid cystic carcinomas (ACC) along such basement membrane-rich structures as peripheral nerves, we have isolated fibronectin (FN) from the culture media of ACC3 cells established from a parotid ACC and characterized its glycosylation and alternative splicing status. FN isolated from ACC3 cells (ACC-FN) showed a molecular mass of 315 kDa in SDS-PAGE and was less heterogeneous and larger than plasma FN (pFN) or FNs from other cell sources. Differential enzymatic treatments of immunoprecipitated ACC-FN with neuraminidase, peptide-N-glycosidase F and endo-alpha-N-acetylgalactosaminidase revealed that ACC-FN was composed of a polypeptide chain of 270 kDa, with 10 kDa each of N-linked and O-linked oligosaccharide chains. Reverse transcription polymerase chain reaction (RT-PCR), in-situ hybridization, and immunofluorescence studies showed that most ACC-FNs contained ED-A, ED-B and IIICS regions in the molecules. This alternative splicing status of ACC-FN seemed to contribute to its less heterogeneous and larger molecular form. Cell attachment assay demonstrated that ACC-FN was more potent than pFN in adhesion of ACC3 cells. The results indicated that ACC-FN may function as a substrate for attachment of ACC3 cells, or that ACC3 cells trap and retain ACC-FN in their pericellular space. This isoform of FN may play an important role in the mode of invasion of ACC and the formation of stromal pseudocysts in the characteristic cribriform structure of ACC.

  1. Adenoid cystic carcinoma of the tongue – clinicopathological study and survival analysis

    PubMed Central

    Luna-Ortiz, Kuauhyama; Carmona-Luna, Tania; Cano-Valdez, Ana María; Mosqueda-Taylor, Adalberto; Herrera-Gómez, Angel; Villavicencio-Valencia, Verónica

    2009-01-01

    Background To review the demographic data of a series of adenoid cystic carcinoma (ACC) of the tongue, as well as to analyze c-kit expression, histopathologic patterns, prognostic factors, evolution, recurrences and/or persistence and survival. Methods Retrospective study from 1986 to 2006, which reviews a database of 68 patients with diagnosis of head and neck ACC. Results We found eight cases of ACC of the tongue (11.7% of all head and neck ACCs). There were 7 female (87.5%) and 1 male (12.5%) patients, with an average age of 51 years (range 33 to 67 years). Seven patients were surgically treated, three of which required adjuvant treatment. Only one female patient did not accept treatment. Average follow-up time was 5.3 years. Metastases developed in 37% of cases during the follow-up period. Histopathologically, the cribriform pattern predominated (6/8 cases). All cases presented perineural invasion, and one patient also presented vascular invasion. c-kit positivity was observed in all cases. Global survival in the seven treated cases was 51% and 34% at 5 and 10 years, respectively, while the disease-free period was of 64% at 3 years and 42% at 10 years. Conclusion ACC of the tongue is a rare neoplasm, in which early diagnosis is important because these are slowly-growing tumors that produce diffuse invasion. As the role of c-kit could not be assesed in this series, surgery continues to be the cornerstone of treatment and radiotherapy is indicated when surgical margins are compromised. Metastatic disease is still hard to handle because of the lack of adequate therapies for these tumors. Hence, survival has not changed in the last years. PMID:19480697

  2. 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

  3. Inhibitory effects of silibinin on proliferation and lung metastasis of human high metastasis cell line of salivary gland adenoid cystic carcinoma via autophagy induction

    PubMed Central

    Jiang, Canhua; Jin, Shufang; Jiang, Zhisheng; Wang, Jie

    2016-01-01

    Objective To investigate the possible mechanisms and effects of silibinin (SIL) on the proliferation and lung metastasis of human lung high metastasis cell line of salivary gland adenoid cystic carcinoma (ACC-M). Methods A methyl thiazolyl tetrazolium assay was performed to detect the inhibitory effects of SIL on the proliferation of ACC-M cells in vitro. Fluorescence microscopy and transmission electron microscopy were used to observe the autophagic process. Western blot was performed to detect the expression of microtube-related protein 1 light-chain 3 (LC3). An experimental adenoid cystic carcinoma (ACC) lung metastasis model was established in nude mice to detect the impacts of SIL on lung weight and lung cancer nodules. Immunohistochemistry was used to detect the expressions of LC3 in human ACC samples and normal salivary gland tissue samples. Results SIL inhibited the proliferation of ACC-M cells in a dose- and time-dependent manner, and inductively increased the autophagic bodies in ACC-M cells. Furthermore, SIL could increase the expression of LC3 in ACC-M cells and promote the conversion of LC3-I into LC3-II in a dose- and time-dependent manner. In the ACC lung metastasis model, the lung weight and left and right lung nodules in the SIL-treated group were significantly less than those in the control group (P<0.05). The expressions of LC3-I and LC3-II as well as the positive expression rate of LC3 (80%) significantly increased, but the positive expression of LC3 in human ACC (42.22%) reduced significantly. Conclusion SIL could inhibit the proliferation and lung metastasis of ACC-M cells by possibly inducing tumor cells autophagy. PMID:27822066

  4. Expression of p-AKT characterizes adenoid cystic carcinomas of head and neck with a higher risk for tumor relapses

    PubMed Central

    Völker, Hans-Ullrich; Scheich, Matthias; Berndt, Annette; Haubitz, Imme; Metzger, Alexandra; Müller-Hermelink, Hans-Konrad; Kämmerer, Ulrike; Schmidt, Melanie

    2009-01-01

    Background Adenoid cystic carcinomas are rare tumors with an indolent clinical course, but frequent local relapses. The identification of tumors with a higher relapse risk seems to be interesting. Hence we investigated parameters of glucose metabolism, which were found associated with poor prognosis in other malignancies. Methods Specimen of 29 patients were investigated immunohistochemically with antibodies against p-AKT, TKTL-1 (transketolase-like 1), M2PK (M2 pyruvate kinase), and GLUT-1. Proliferation was investigated by staining with Ki67. The tumors were located at the major or minor salivary glands. Only the typical cribriform subtype was investigated. The initial tumor stage was pT1 or pT2. Results Expression of p-AKT was significantly (P = 0.036) associated with a higher relapse risk in multivariate analysis. Low expression of M2PK was non-significantly (P = 0.065) predictive for a higher risk. TKTL-1 and GLUT-1 were expressed in the majority of cases, albeit not associated with relapse risk. Conclusion Adenoid cystic carcinomas positive for p-AKT show a higher relapse risk. However, other parameters of glucose metabolism investigated here or proliferation (Ki67) were not predictive in this entity. Our findings demonstrate a possible background for therapeutic approaches targeting the inhibition of PI3K/AKT pathway. PMID:19545368

  5. Adenoid cystic carcinoma of the lacrimal gland is frequently characterized by MYB rearrangement.

    PubMed

    Chen, T Y; Keeney, M G; Chintakuntlawar, A V; Knutson, D L; Kloft-Nelson, S; Greipp, P T; Garrity, J A; Salomao, D R; Garcia, J J

    2017-01-13

    PurposeAdenoid cystic carcinoma (ACC) represents ~10-15% of salivary neoplasms and almost universally exhibits a lethal clinical course. ACC is also known to occur in the lacrimal gland. ACC is characterized by its heterogeneous morphology and may demonstrate tubular, cribriform, and/or solid architectural patterns. Unfortunately, these histopathological features are not specific to ACC and can be seen in other salivary gland-type neoplasms, introducing a diagnostic dilemma. The discovery of fusion transcripts has revolutionized the diagnosis, surveillance, and treatment of epithelial malignancies. In several anatomic subsites ACC is frequently characterized by a fusion transcript involving genes MYB and NFIB; more specifically, t(6;9)(q22-23;p23-24). This study explores the incidence of MYB rearrangement in cases of lacrimal gland ACC using fluorescent in situ hybridization.Materials and methodsRetrospective clinical and histopathological review of 12 cases of lacrimal gland ACC seen at Mayo Clinic over a 25-year period (1990-2015) was performed. Demographic and clinical data were obtained from medical records. Surgical pathology archival material including H&E slides and immunostains was re-examined. Formalin-fixed paraffin-embedded material was further evaluated using immunohistochemistry when appropriate. Fluorescent in situ hybridization (FISH) using a MYB break-apart probe was applied to all histologically confirmed cases of ACC and benign salivary gland parenchyma.ResultsThe median patient age was 53.6 years (range 12-64) and distributed equally by gender (six male and six female). Rearrangement of MYB was identified using FISH in seven cases (58%). Twenty-five sections of benign salivary gland parenchyma showed no evidence of MYB rearrangement. Primary surgical resection was most common treatment, and 78% of the patient received adjuvant radiation therapy. Median overall survival (OS) was 11 years. Rearrangement of MYB did not affect OS

  6. [Sinonasal cystic adenoid carcinoma with epiphora and orbital involvement. Report of a case and review of the literature].

    PubMed

    Pino Rivero, V; González Palomino, A; Pantoja Hernández, C G; Marcos García, M; Trinidad Ruiz, G; Pardo Romero, G; Blasco Huelva, A

    2005-01-01

    We report the clinical case of a 41 years old male with nasal obstruction of 1 year, epistaxis and epiphora. The ENT exam showed a bleeding red mass in left nasal fossa and CT joint to IRM revealed a tumoral process on that level and informed about its extension to adyacents structures (cavum, ethmoides, sphenoids and maxillary sinus). The biopsy was positive for cystic adenoid carcinoma. Our patient was operated by paralateronasal rhinotomy with removal of the tumor. One year later we found recurrence on the left orbital floor and maxilar sinus. The Oncology Department informed that it was not possible a treatment with radiotherapy or chemotherapy because the low sensitivity of that lesion those treatment.

  7. High-dose rate brachytherapy for local recurrent adenoid cystic carcinoma of the tongue base following postoperative external beam radiotherapy

    PubMed Central

    Lee, Sun Young; Kim, Jung Soo; Kwon, Hyoung Cheol

    2016-01-01

    Adenoid cystic carcinoma is a rare neoplasm commonly originating from the minor salivary glands. The clinical findings typical of this tumor include slow growth, perineural invasion and high frequency of local recurrence. In this study, a patient presented with a tongue base lesion that was treated with surgical excision and additional postoperative external beam radiotherapy. However, local recurrence occurred 8 months after radiotherapy. If recurrence occurs after radiation therapy, total glossectomy should be considered. However, the patient refused re-operation and, considering the patient's age, brachytherapy was used to ensure organ preservation. Complete remission was achieved following brachytherapy, without serious side effects. There has been no progression of the lesion during a follow-up period of 2 years. PMID:27882233

  8. Skp2 expression is associated with down-regulation of p27 protein and cell proliferation in salivary adenoid cystic carcinoma.

    PubMed

    Keikhaee, Mohammad Reza; Kudo, Yasusei; Siriwardena, Samadarani; Wu, Lanyan; Ogawa, Ikuko; Takata, Takashi

    2007-05-01

    Adenoid cystic carcinoma (ACC) is a malignant salivary gland tumor, which shows frequent recurrence and metastasis, ultimately with a poor outcome. We previously demonstrated that p27 down-regulation is frequently found and is due to an enhancement of its degradation in ACC. In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into ACC cell line. Transfection of T187A mutant gene was more effective on inhibition of cell growth of ACC cells, suggesting that aberration of p27 degradation may be present in ACC. As F-box protein S-phase kinase-associated protein 2 (Skp2), which is necessary for ubiquitin-mediated degradation of p27, is involved in p27 down-regulation in various cancers, we examined the Skp2 expression and its association with p27 expression in 50 ACC cases. We found Skp2 expression in 36% of ACC cases and inverse association between the expression of Skp2 and p27. Moreover, Skp2 small interfering ribonucleic acid (siRNA) transfection decreased Skp2 protein and accumulation of p27 protein and inhibited the cell growth of ACC cells in vitro. These findings, overall, suggest that Skp2 may play an important role in ACC development through the down-regulation of p27 and that Skp2 siRNA can be a novel modality of cancer gene therapy for suppression of p27 down-regulation in ACC.

  9. [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.

  10. Novel CT-guided biopsy of isolated perineural spread of adenoid cystic carcinoma along the trigeminal nerve masquerading as chronic trigeminal neuropathy.

    PubMed

    Yong, Xian Zhang Eric; Dillon, Jonathan; Smith, Paul; Salinas-La Rosa, Cesar; Jhamb, Ashu

    2017-02-01

    The differential diagnoses for chronic peripheral neuropathy are broad and diagnosing a cause can be challenging. We present a case of isolated perineural spread of adenoid cystic carcinoma to the trigeminal nerve involving skull base foramina and Meckel's cave in the setting of chronic trigeminal neuropathy and no known prior malignancy. Computed tomography-guided core (CT) needle biopsy was needed to arrive at a diagnosis and a novel approach was required to obtain tissue from the trigeminal nerve lesion at foramen ovale.

  11. 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 ...

  12. 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

  13. 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.

  14. B7-H3 regulates migration and invasion in salivary gland adenoid cystic carcinoma via the JAK2/STAT3 signaling pathway

    PubMed Central

    Fan, Teng-Fei; Deng, Wei-Wei; Bu, Lin-Lin; Wu, Tian-Fu; Zhang, Wen-Feng; Sun, Zhi-Jun

    2017-01-01

    B7 Homolog 3 (B7-H3), a newly identified member of the B7 family, is over-expressed in various human cancers and plays a vital role in tumor progression. To identify the expression pattern of B7-H3 in human salivary adenoid cystic carcinoma (AdCC) and its underlying mechanisms, we characterized B7-H3 expression in AdCC tissue microarrays using immunohistochemical staining, and analyzed potentially associated molecules. The results showed that B7-H3 was highly expressed in salivary AdCC, compared with normal salivary glands. Statistical analyses of immunohistochemical staining showed that B7-H3 was closely correlated with Slug and p-STAT3. Functional studies showed that knockdown of B7-H3 in AdCC cell lines using RNA interference did not influence cell growth and apoptosis, but decreased migration and invasion in vitro. Further mechanism studies suggested that B7-H3 influenced the migration and invasion of AdCC cells by regulating the epithelial-mesenchymal transition via JAK2/STAT3 pathway components. Collectively, these findings suggested that B7-H3 may be a potential therapeutic target for AdCC. PMID:28386362

  15. Recurrent prognostic factors and expression of GLUT-1, PI3K and p-Akt in adenoid cystic carcinomas of the head and neck: Clinicopathological features and biomarkers of adenoid cystic carcinoma.

    PubMed

    Fang, Jin; Bao, Yang-Yang; Zhou, Shui-Hong; Luo, Xing-Mei; Yao, Hong-Tian; He, Jian-Feng; Wang, Qin-Ying

    2012-12-01

    The purpose of this study was to explore the factors associated with the recurrence of adenoid cystic carcinomas (ACCs). We examined the recurrence values of clinicopathological variables and GLUT-1, p-Akt and PI3K expression in 42 patients with ACC. Of the 42 patients, 17 developed recurrence following initial surgery. The positive rates of GLUT-1, PI3K and p-Akt protein expression in ACC were 38.1, 38.1 and 50.0%, respectively. The expression of GLUT-1, p-Akt or PI3K protein in ACC was higher than that in inflammatory lesions or benign tumors. Our study demonstrated that T stage, a positive resection margin, perineural invasion, surgery without postoperative radiotherapy and the expression of GLUT-1, PI3K and p-Akt were factors predictive of recurrence by univariate analyses. In multivariate analyses, perineural invasion, a positive resection margin and p-Akt were significant predictors of recurrence. Initial surgery is very significant in the recurrence of ACC. Overexpression of GLUT-1, PI3K and p-Akt may also play a role in its development and recurrence.

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

    PubMed Central

    ZHOU, XIAOQING; HUANG, SHENGYUN; JIANG, LICHENG; ZHANG, SHIZHOU; LI, WENGANG; CHEN, ZHANWEI; ZHANG, DONGSHENG

    2014-01-01

    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

  17. Cytokeratin immunoprofile of primary and metastatic adenoid cystic carcinoma of salivary glands: a report of two cases

    PubMed Central

    Nagano, Cibele Pidorodeski; Coutinho-Camillo, Cláudia Malheiros; Pinto, Clovis Antônio; Soares, Fernando Augusto; Santos, Filipa; Fonseca, Isabel

    2016-01-01

    Distant metastases from salivary gland tumors are considered infrequent: the incidence of distant metastases ranges from 24% to 61% according to different histotypes and to the site of the primary mass. The most common site of distant metastases due to salivary gland malignancies is the lung. From the pathology point of view, cytokeratins (CK) are important differentiation markers in salivary gland tumors, which are often used for the diagnostic process. Their employment also may be useful to identify and confirm the diagnosis of their distant metastases. We report the expression of CK in two cases of primary and metastatic adenoid cystic carcinoma (ACC) and their CK profiles of the primary and metastatic masses. Both patients—one male and one female—were diagnosed with an ACC cribriform and tubular, respectively, with lung metastases. In case 1, the metastatic mass presented the same histotype and CK profile of the primary tumor. For case 2, the metastatic lung mass was distinct from the primary mass (a solid ACC) and presented a different CK profile. Although salivary gland metastatic disease presents a poor prognosis, both patients reported herein are alive despite the presence of the disease in long-term follow-up. Therefore, the modifications seen in the CK profiles do not appear to be predictive of tumor behavior and outcome. The use of a CK profile seems to be useful to identify the nature of a distant mass and its possible correlations with a primary salivary gland tumor. PMID:28210575

  18. Salivary adenoid cystic carcinoma with an early phase of high-grade transformation: case report with an immunohistochemical analysis

    PubMed Central

    2013-01-01

    Background The early phase of salivary gland carcinomas with high-grade transformation (HGT) is extremely rare. We reported one case of adenoid cystic carcinoma (AdCC) with early HGT, herein. Case presentation The patient was a 27-year-old Japanese woman who suffered from swelling of the left parotid region. Most of this tumor consisted of typical AdCC histology, whereas the central area of this tumor was composed of solid growth component by atypical cells with clear cytoplasm and marked nuclear atypia. Immunohistochemically, this area was strongly and diffusely positive for epithelial membrane antigen, p53, p16, Her-2, cyclin A and cyclin B1. The Ki-67 labeling index of this area was high, entirely different from that of AdCC area. Conclusion Overall, this area was an early phase of AdCC-HGT. This case is the second case of early AdCC-HGT. We discuss the development of salivary gland carcinoma with HGT. Virtual Slides http://www.diagnosticpatology.diagnomx.eu/vx/1598278104895730 PMID:23819679

  19. Immunoexpression of GLUT-1 and angiogenic index in pleomorphic adenomas, adenoid cystic carcinomas, and mucoepidermoid carcinomas of the salivary glands.

    PubMed

    de Souza, Lélia Batista; de Oliveira, Lucileide Castro; Nonaka, Cassiano Francisco Weege; Lopes, Maria Luiza Diniz de Sousa; Pinto, Leão Pereira; Queiroz, Lélia Maria Guedes

    2017-03-16

    This study aimed to evaluate and compare the immunoexpression of glucose transporter-1 (GLUT-1) and angiogenic index between pleomorphic adenomas (PAs), adenoid cystic carcinomas (ACCs), and mucoepidermoid carcinomas (MECs) of the salivary glands, and establish associations with the respective subtype/histological grade. Twenty PAs, 20 ACCs, and 10 MECs were submitted to morphological and immunohistochemical analysis. GLUT-1 expression was semi-quantitatively evaluated and angiogenic index was assessed by microvessel counts using anti-CD34 antibody. Higher GLUT-1 immunoexpression was observed in the MECs compared to PAs and ACCs (p = 0.022). Mean number of microvessels was 66.5 in MECs, 40.4 in PAs, and 21.2 in ACCs (p < 0.001). GLUT-1 expression and angiogenic index showed no significant correlation in the tumors studied. Results suggest that differences in biological behavior of the studied tumors are related to GLUT-1. Benign and malignant salivary gland tumors differ in the angiogenic index; however, angiogenesis may be independent of the tumor cell's metabolic demand.

  20. Expression of c-kit and Slug correlates with invasion and metastasis of salivary adenoid cystic carcinoma.

    PubMed

    Tang, Yaling; Liang, Xinhua; Zheng, Min; Zhu, Zhiyu; Zhu, Guiquan; Yang, Jing; Chen, Yu

    2010-04-01

    The overexpression of c-kit seems to be frequent and specific in salivary adenoid cystic carcinoma (ACC), however, there is little information on correlation between c-kit expression and the invasion and metastasis. Recently, the data showed that Slug, a transcription factor of epithelial-mesenchymal transitions (EMT), is a molecular target that contributes to the biological specificity of c-kit signaling pathway. In this study, the expression of c-kit and Slug was evaluated in two ACC cell lines and 121 patients with ACC. The results of real-time RT-PCR and Western blot showed that ACC-2 and ACC-M cell lines expressed c-kit and Slug mRNA and protein. The immunohistochemical assay in patients demonstrated that positive expression of c-kit and Slug was observed in 108/121 (89.26%) and 87/121 (71.90%) of cases, respectively, and that c-kit and Slug expression was significantly associated with tumor site, TNM stage, histological pattern, perineural invasion, local regional recurrence and distant metastasis of patients with ACC (P<0.05). Furthermore, there was a significant association between the positive expression of c-kit and that of Slug (P=0.046). These findings indicated that c-kit/Slug pathway might participate in the invasion and metastasis of salivary ACC.

  1. Similar outcomes between adenoid cystic carcinoma of the breast and invasive ductal carcinoma: a population-based study from the SEER 18 database

    PubMed Central

    Lin, Pei-Yang; Zhang, Jie; Song, Chuan-Gui; Shao, Zhi-Ming

    2017-01-01

    Adenoid cystic carcinoma of the breast (breast-ACC) is a rare and indolent tumor with a good prognosis despite its triple-negative status. However, we observed different outcomes in the present study. Utilizing the Surveillance, Epidemiology, and End Results (SEER) database, we enrolled a total of 89,937 eligible patients with an estimated 86 breast-ACC cases and 89,851 invasive ductal carcinoma (IDC) patients. In our study, breast-ACC among women presented with a higher proportion of triple-negative breast cancer (TNBC), which was more likely to feature well-differentiated tumors, rare regional lymph node involvement and greater application of breast-conserving surgery (BCS). Kaplan-Meier analysis revealed that patients with breast-ACC and breast-IDC patients had similar breast cancer-specific survival (BCSS) and overall survival (OS). Moreover, using the propensity score matching method, no significant difference in survival was observed in matched pairs of breast-ACC and breast-IDC patients. Additionally, BCSS and OS did not differ significantly between TNBC-ACC and TNBC-IDC after matching patients for age, tumor size, and nodal status. Further subgroup analysis of molecular subtype indicated improved survival in breast-ACC patients with hormone receptor-positive and human epidermal growth factor receptor 2-negative (HR+/Her2-) tumors compared to IDC patients with HR+/Her2- tumors. However, the survival of ACC-TNBC and IDC-TNBC patients was similar. In conclusion, ACCs have an indolent clinical course and result in similar outcomes compared to IDC. Understanding these clinical characteristics and outcomes will endow doctors with evidence to provide the same intensive treatment for ACC-TNBC as for IDC-TNBC and lead to more individualized and tailored therapies for breast-ACC patients. PMID:28008158

  2. Clinical significance of post-surgical residual tumor burden and radiation therapy in treating patients with lacrimal adenoid cystic carcinoma

    PubMed Central

    Ahn, Yong Chan; Oh, Dongryul; Kim, Yoon-Duck; Woo, Kyung In; Ko, Young-Hyeh; Kim, Seokhwi

    2016-01-01

    Retrospective analyses were done on 19 lacrimal adenoid cystic carcinoma (ACC) patients who underwent curative treatment between 1997 and 2013. Nine patients (47.4%) had T1-2 disease and ten (52.6%) had T4 disease. Surgical procedures were globe-preserving tumor resection in 11 patients (57.9%), incisional biopsy in five (26.3%), and orbital exenteration was undertaken in three (15.8%). Residual tumor burdens were R0/1 in 12 patients (63.2%) and R2 in seven (36.8%). Radiation therapy (RT) was recommended to all patients, and 16 (84.2%) completed RT (median 60 Gy). After median follow-up of 57.5 months, seven (36.8%) developed progression and three (15.8%) died. Local recurrence occurred in four patients (21.1%), distant metastasis in one (5.3%), and combined local recurrence and distant metastasis in two (10.5%). Progression-free survival and overall survival rates at 5-years were 64.5% and 82.6%, respectively. Among 12 patients following R0/1 resection, two (16.7%) developed local recurrence and none died, while among seven following R2 resection, five (71.4%) developed progression and three (42.9%) died. RT following R0/R1 resection could reduce progression. Globe-preserving surgery and RT seemed optimal strategy for T1-2 disease. Careful attention should to be paid to minimize residual tumor burden at surgery and effort for safe radiation dose escalation would be desired. PMID:27372060

  3. Clinically significant copy number alterations and complex rearrangements of MYB and NFIB in head and neck adenoid cystic carcinoma.

    PubMed

    Persson, Marta; Andrén, Ywonne; Moskaluk, Christopher A; Frierson, Henry F; Cooke, Susanna L; Futreal, Philip Andrew; Kling, Teresia; Nelander, Sven; Nordkvist, Anders; Persson, Fredrik; Stenman, Göran

    2012-08-01

    Adenoid cystic carcinoma (ACC) of the head and neck is a malignant tumor with poor long-term prognosis. Besides the recently identified MYB-NFIB fusion oncogene generated by a t(6;9) translocation, little is known about other genetic alterations in ACC. Using high-resolution, array-based comparative genomic hybridization, and massively paired-end sequencing, we explored genomic alterations in 40 frozen ACCs. Eighty-six percent of the tumors expressed MYB-NFIB fusion transcripts and 97% overexpressed MYB mRNA, indicating that MYB activation is a hallmark of ACC. Thirty-five recurrent copy number alterations (CNAs) were detected, including losses involving 12q, 6q, 9p, 11q, 14q, 1p, and 5q and gains involving 1q, 9p, and 22q. Grade III tumors had on average a significantly higher number of CNAs/tumor compared to Grade I and II tumors (P = 0.007). Losses of 1p, 6q, and 15q were associated with high-grade tumors, whereas losses of 14q were exclusively seen in Grade I tumors. The t(6;9) rearrangements were associated with a complex pattern of breakpoints, deletions, insertions, inversions, and for 9p also gains. Analyses of fusion-negative ACCs using high-resolution arrays and massively paired-end sequencing revealed that MYB may also be deregulated by other mechanisms in addition to gene fusion. Our studies also identified several down-regulated candidate tumor suppressor genes (CTNNBIP1, CASP9, PRDM2, and SFN) in 1p36.33-p35.3 that may be of clinical significance in high-grade tumors. Further, studies of these and other potential target genes may lead to the identification of novel driver genes in ACC.

  4. 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.

  5. Interdisciplinary treatment of the patient with adenoid cystic carcinoma of the Bartholin's gland resulting in 15 years' survival: a case report and review of literature

    PubMed Central

    Rycel, Magdalena; Szpakowski, Marian; Kulig, Andrzej; Sobotkowski, Janusz; Dziki, Adam

    2014-01-01

    Carcinoma of the Bartholin's gland is very rare, comprises below 2% of Bartholin's gland lesions and adenoid cystic carcinoma (ADC) is one of the most uncommon variants and accounts for 10-15% of Bartholin's gland malignancies. There is no consensus on treatment of ADC of the Bartholin's gland: reported cases were treated with local excision or vulvectomy with or without lymphadenectomy followed or not by radiotherapy. The survival of patients varies significantly, so we present a case of interdisciplinary treatment of ADC resulting in 15 years’ survival. The patient was initially treated with local excision, but the margins were not clear. Then vulvectomy, inguinal lymphadenectomy and adjuvant brachytherapy were performed resulting in 7 years free of the disease. Relapses were excised by abdominoperineal amputation of the rectum and distal part of the vagina with sigmoideostomy, excisions of local recurrences in vagina and metastasectomy of isolated lung metastases. The patient died manifesting multiple lung metastases 15 years after the initial diagnosis. Based on our experience and world literature, in cases of adenoid cystic carcinoma of the Bartholin's gland, vulvectomy with or without lymphadenectomy should be considered as a treatment of choice and in patients with positive margin, surgery should be extended by adjuvant radiotherapy. PMID:26327872

  6. Interdisciplinary treatment of the patient with adenoid cystic carcinoma of the Bartholin's gland resulting in 15 years' survival: a case report and review of literature.

    PubMed

    Nowak, Marek; Rycel, Magdalena; Szpakowski, Marian; Kulig, Andrzej; Sobotkowski, Janusz; Dziki, Adam

    2014-10-01

    Carcinoma of the Bartholin's gland is very rare, comprises below 2% of Bartholin's gland lesions and adenoid cystic carcinoma (ADC) is one of the most uncommon variants and accounts for 10-15% of Bartholin's gland malignancies. There is no consensus on treatment of ADC of the Bartholin's gland: reported cases were treated with local excision or vulvectomy with or without lymphadenectomy followed or not by radiotherapy. The survival of patients varies significantly, so we present a case of interdisciplinary treatment of ADC resulting in 15 years' survival. The patient was initially treated with local excision, but the margins were not clear. Then vulvectomy, inguinal lymphadenectomy and adjuvant brachytherapy were performed resulting in 7 years free of the disease. Relapses were excised by abdominoperineal amputation of the rectum and distal part of the vagina with sigmoideostomy, excisions of local recurrences in vagina and metastasectomy of isolated lung metastases. The patient died manifesting multiple lung metastases 15 years after the initial diagnosis. Based on our experience and world literature, in cases of adenoid cystic carcinoma of the Bartholin's gland, vulvectomy with or without lymphadenectomy should be considered as a treatment of choice and in patients with positive margin, surgery should be extended by adjuvant radiotherapy.

  7. Phase II trial of dasatinib for recurrent or metastatic c-KIT expressing adenoid cystic carcinoma and for nonadenoid cystic malignant salivary tumors

    PubMed Central

    Wong, S. J.; Karrison, T.; Hayes, D. N.; Kies, M. S.; Cullen, K. J.; Tanvetyanon, T.; Argiris, A.; Takebe, N.; Lim, D.; Saba, N. F.; Worden, F. P.; Gilbert, J.; Lenz, H. J.; Razak, A. R. A.; Roberts, J. D.; Vokes, E. E.; Cohen, E. E. W.

    2016-01-01

    Background Adenoid cystic carcinoma (ACC) is a subtype of malignant salivary gland tumors (MSGT), in which 90% of cases express cKIT. Dasatinib is a potent and selective inhibitor of five oncogenic protein tyrosine kinases (PTKs)/kinase families including cKIT. We conducted a phase II study to determine the antitumor activity of dasatinib in ACC and non-ACC MSGT. Patients and methods In a two-stage design, patients with progressive, recurrent/metastatic ACC (+cKIT) and non-ACC MSGT (separate cohort) were treated with dasatinib 70 mg p.o. b.i.d. Response was assessed every 8 weeks using RECIST. Results Of 54 patients: 40 ACC, 14 non-ACC (1, ineligible excluded); M:F = 28 : 26, median age 56 years (range 20–82 years), ECOG performance status 0 : 1 : 2 = 24 : 28 : 2, prior radiation: 44, prior chemotherapy: 21. The most frequent adverse events (AEs) (as % of patients, worst grade 2 or higher) were: fatigue (28%), nausea (19%), headache (15%), lymphopenia (7%), dyspnea (11%), alanine aminotransferase increased (7%), anorexia (7%), vomiting (7%), alkaline phosphatase increased (6%), diarrhea (6%), neutropenia (6%), and noncardiac chest pain (6%). No grade 4 AE occurred, 15 patients experienced a grade 3 AE, primarily dyspnea (5) and fatigue (4), and cardiac toxicity (1 prolonged QTc). Among ACC patients, best response to dasatinib: 1 patient (2.5%) had partial response, 20 patients (50%) had stable disease (SD) (3–14 months), 12 patients (30%) had PD, 2 withdrew, 3 discontinued therapy due to AE, and 2 died before cycle 2. Median progression-free survival was 4.8 months. Median overall survival was 14.5 months. For 14 assessable non-ACC patients, none had objective response, triggering early stopping rule. Seven had SD (range 1–7 months), 4 PD, 2 discontinued therapy due to AE, and 1 died before cycle 2. Conclusion Although there was only one objective response, dasatinib is well tolerated, with tumor stabilization achieved by 50% of ACC patients. Dasatinib

  8. Adenoid cystic carcinomas of the breast and salivary glands (or 'The strange case of Dr Jekyll and Mr Hyde' of exocrine gland carcinomas).

    PubMed

    Marchiò, Caterina; Weigelt, Britta; Reis-Filho, Jorge S

    2010-03-01

    Adenoid cystic carcinoma (AdCC) is a tumour with myoepithelial differentiation and characterised by the presence of a dual population of basaloid and luminal cells arranged in specific growth patterns. These tumours, regardless of the anatomical site, are characterised by expression of the proto-oncogene and therapeutic target c-KIT, and seem to harbour a specific chromosomal translocation t(6;9) leading to the fusion gene MYB-NFIB and overexpression of the oncogene MYB. However, the clinical behaviour of salivary gland and breast AdCC differs; while salivary gland lesions have a relatively high proclivity to metastasise, patients with breast AdCCs have an excellent outcome. Here the clinical, morphological and molecular features, and potential therapeutic targets of salivary gland and breast AdCCs are reviewed.

  9. Loss of 6q or 8p23 is associated with the total number of DNA copy number aberrations in adenoid cystic carcinoma.

    PubMed

    Oga, Atsunori; Uchida, Kenichiro; Nakao, Motonao; Kawauchi, Shigeto; Furuya, Tomoko; Chochi, Yasuyo; Ikemoto, Kenzo; Okada, Takae; Ueyama, Yoshiya; Sasaki, Kohsuke; Yousefpour, Fatemeh

    2011-12-01

    We analyzed 10 adenoid cystic carcinomas (ACCs) of the salivary glands by array-based comparative genomic hybridization (a-CGH) using DNA chips spotted with 4,030 bacterial artificial chromosome clones. After the data smoothing procedure was applied, a total of 88 DNA copy number aberrations (DCNAs) were detected. The frequent (≥30%) DCNAs were loss of 6q23-27 and 8p23, and gains of 6p, 6q23, 8p23 and 22q13. High-level gains were detected on 12q15, including MDM2 in two cases. These two cases showed an immunohistochemically high-level (>50%) expression of MDM2 and a low-level expression of p53 (<20%). Furthermore, the total number of DCNAs was significantly greater in ACCs with loss of 6q compared to other ACCs, and in ACCs without the loss of 8p23 compared to other ACCs, respectively. Although limitations exist, a-CGH detected several candidate chromosomal imbalances associated with accumulation of DCNAs in ACCs.

  10. 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

  11. Down-regulation of miR-125a-5p is associated with salivary adenoid cystic carcinoma progression via targeting p38/JNK/ERK signal pathway

    PubMed Central

    Liang, Yancan; Ye, Jiantao; Jiao, Jiuyang; Zhang, Jin; Lu, Yingjuan; Zhang, Li; Wan, Di; Duan, Liming; Wu, You; Zhang, Bin

    2017-01-01

    Salivary adenoid cystic carcinoma (SACC) is a relatively uncommon epithelial-like malignancy that can occur in the head and neck region. Despite its slow growth, this aggressive salivary gland tumor frequently recurs and metastasizes to distant organs since lacking effective chemotherapy treatment. MicroRNAs are key regulators in tumor metastasis and progression, but their roles during SACC progression have not been illustrated. In current study, we demonstrate that miR-125a-5p is down-regulated in SACC and closely related to the metastasis and progression in human SACC specimens. In vitro, miR-125a-5p mimic can suppress SACC cell migration and invasion; while blocking miR-125a-5p can relieve the inhibition effect. By using dual-luciferase assay, we confirmed that miR-125a-5p directly targeted to p38 and tissue samples of patients indicated the negative correlation between miR-125a-5p and p38; clinical analysis also showed that low level expression of miR-125a-5p is closely associated with poor prognosis of SACC. Furthermore, down-regulation of miR-125a-5p triggered downstream p38/JNK/ERK activation. Taken together, our results indicate that down-regulation of miR-125a-5p promotes SACC progression through p38 signal pathway and miR-125a-5p can be a potential therapeutic target of SACC. PMID:28386337

  12. 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

  13. New developments in the molecular pathogenesis of head and neck tumors: a review of tumor-specific fusion oncogenes in mucoepidermoid carcinoma, adenoid cystic carcinoma, and NUT midline carcinoma.

    PubMed

    Bhaijee, Feriyl; Pepper, Dominique J; Pitman, Karen T; Bell, Diana

    2011-02-01

    Tumor-specific chromosomal rearrangements often produce potent fusion oncogenes, which induce tumorigenesis by 2 alternative mechanisms: deregulation of the cell cycle resulting in gene overexpression or gene fusion resulting in a hybrid, chimeric oncogene. Tumor-specific recurrent chromosomal translocations and novel fusion oncogenes in aggressive head and neck malignancies have diagnostic, therapeutic, and prognostic implications. Recently, pathognomonic fusion transcripts have been identified in various uncommon, aggressive head and neck malignancies, including mucoepidermoid carcinoma (MEC), adenoid cystic carcinoma (ACC), and NUT midline carcinoma (NMC). The t(11;19)(q12;p13) translocation in MEC results in fusion of the MECT1 gene at 19p13 and the MAML2 gene at 11q21. The MECT1-MAML2 fusion transcript, present in more than half of MECs, is associated with lower histologic grades and improved survival, suggesting both diagnostic and prognostic roles in clinical management. The t(6;9)(q22-23;p23-24) translocation in ACC results in fusion of the MYB gene at 6q22-23 and the NFIB gene at 9p23-24. The MYB-NFIB fusion transcript, present in at least one third of salivary ACCs, can be detected by new reverse transcription polymerase chain reaction screening methods, and has emerged as a potential therapeutic target. The t(15;19)(q14;p13.1) translocation in NMC results in fusion of the NUT gene at 15q14 and the BRD4 gene at 19p13.1. This occurs in two thirds of NMC. Because NMC lacks characteristic clinicopathologic features and established therapeutic options, the BRD4-NUT fusion transcript may represent both a diagnostic marker and an optimal target for disease-specific drug therapy. Moreover, immunohistochemical advances have yielded a promising new monoclonal antibody against the NUT antigen, which may improve NMC diagnosis. Next-generation sequencing methods, such as the use of massively parallel and paired-end sequencing in the study of cancer genomes, will

  14. Cystic brain metastasis is associated with poor prognosis in patients with advanced breast cancer

    PubMed Central

    Sun, Bing; Huang, Zhou; Wu, Shikai; Ding, Lijuan; Shen, Ge; Cha, Lei; Wang, Junliang; Song, Santai

    2016-01-01

    Purpose Brain metastasis (BM) with a cystic component from breast cancer is rare and largely uncharacterized. The purpose of this study was to identify the characteristics of cystic BM in a large cohort of breast cancer patients. Results A total of 35 eligible patients with cystic BM and 255 patients with solid BM were analyzed. Three factors were significantly associated with an increased probability of developing cystic lesions: age at diagnosis ≤ 40 years, age at BM ≤ 45 years, and poor histological grade (p < 0.05). Patients with cystic metastasis were also characterized by a larger metastasis volume, a shorter progression-free survival (PFS) following their first treatment for BM, and poor overall survival after BM (p < 0.05). Multivariate analysis further demonstrated that local control of cystic BM was only potentially achieved for HER2-negative primary tumors (p = 0.084). Methods Breast cancer patients with parenchymal BM were reviewed from consecutive cases treated at our institution. Cystic BM was defined when the volume of a cystic lesion was greater than 50% of the aggregated volume of all lesions present. Clinicopathologic and radiographic variables were correlated with development of cystic lesions and with prognosis of cystic BM. Conclusions This study shows that cystic BM from breast cancer, a special morphological type of BM, had worse prognosis than the more commonly observed solid BM. Younger age and low tumor grade were associated with the development of cystic lesions. Further comprehensive research and management of cystic BM are warranted to improve its poor prognosis. PMID:27659537

  15. A Comparison of the Demographics, Clinical Features, and Survival of Patients with Adenoid Cystic Carcinoma of Major and Minor Salivary Glands Versus Less Common Sites within the SEER Registry

    PubMed Central

    Li, Nan; Xu, Li; Zhao, Hui; El-Naggar, Adel K.; Sturgis, Erich M.

    2012-01-01

    Objectives The scientific literature to date lacks population-based studies on the demographics, clinical features, and survival of patients with adenoid cystic carcinoma (ACC) of different anatomic sites. Methods We identified 5349 ACC cases in major salivary glands (N=1850), minor salivary glands (N=2077), breast (N=696), skin (N=291), lung and bronchus (N=203), female genital system (N=132), and eye and orbit (N=100) from the Surveillance, Epidemiology, and End Results (SEER) registry. Differences in demographics, clinical features, and survival of patients were assessed. Results ACC of the eye and orbit was associated with younger age at presentation (mean=49.9 years). ACC of the skin or breast tended to present with less aggressive prognostic features, while ACC of the lung and bronchus or eye and orbit tended to present with more aggressive prognostic features. In multivariate survival analysis of patients presenting with localized disease, patients with ACC of breast (HR=0.40) or skin (HR=0.40) had a significantly lower risk death than patients with ACC of major salivary glands, while patients with ACC of lung and bronchus (HR=3.72) or eye and orbit (HR=3.67) had a significantly higher risk. For patients presenting with regional disease, the only clear prognostic difference in multivariate analysis was that patients with ACC of skin did significantly better. Conclusions The demographics and clinical features of ACC differ by disease site. Site may be an important predictor of survival for patients presenting with localized disease but is less important for patients presenting with regional disease. PMID:22179977

  16. All about Adenoids

    MedlinePlus

    ... de los dientes Video: Getting an X-ray All About Adenoids KidsHealth > For Kids > All About Adenoids Print A A A What's in ... of Use Visit the Nemours Web site. Note: All information on KidsHealth® is for educational purposes only. ...

  17. All about Adenoids

    MedlinePlus

    ... Emergency Room? What Happens in the Operating Room? All About Adenoids KidsHealth > For Kids > All About Adenoids A A A What's in this ... of Use Visit the Nemours Web site. Note: All information on KidsHealth® is for educational purposes only. ...

  18. [A Case of Cystic Cervical Lymph Node Metastasis of HPV-positive Tonsil Cancer, Being Discriminated as the Branchiogenic Carcinoma].

    PubMed

    Kambara, Rumi; Tamai, Masamitsu; Horii, Arata

    2016-02-01

    In recent years, human papillomavirus (HPV)-positive oropharyngeal carcinomas have been increasing. The first manifestation of these tumors is frequently as cystic metastasis to cervical lymph nodes that may precede recognition of the primary tumor, so, they often result in misdiagnosis as branchial cleft cysts. We report a case of cystic cervical lymph node metastasis of HPV-positive tonsil cancer. The patient was a 70-years-old man who noticed a mass on his left neck. The tumor was large and soft, and it was diagnosed as benign in fine-needle aspiration cytology. We diagnosed the tumor as a branchial cleft cyst and undertook surgery. The histopathological diagnosis was squamous cell carcinoma arising from a branchiogenic cyst. However, because it did not satisfy the diagnostic criteria, we diagnosed the tumor as an unknown primary tumor. One year later, left tonsil cancer was suspected based on PET-CT imaging and a left tonsillectomy was undertaken, whereafter tonsil cancer was found. In p16 immunostaining, it was positive in both cystic mass and tonsil. The cervical mass was cystic lymph node metastasis of HPV-positive tonsil cancer. It is important to investigate the oropharynx, when we found cystic cervical mass, because HPV-positive oropharyngeal carcinoma frequently results in cystic neck metastasis.

  19. Adenoid bacterial colonization in a paediatric population.

    PubMed

    Subtil, João; Rodrigues, João Carlos; Reis, Lúcia; Freitas, Luís; Filipe, Joana; Santos, Alberto; Macor, Carlos; Duarte, Aida; Jordao, Luisa

    2017-04-01

    Adenoids play a key role in both respiratory and ear infection in children. It has also been shown that adenoidectomy improves these symptoms in this population. The main goal of the present study was to evaluate adenoid bacterial colonization and document a possible relation with infectious respiratory disease. A prospective observational study was designed to evaluate the proposed hypothesis in a paediatric population submitted to adenoidectomy by either infectious or non-infectious indications and compare these two cohorts. A total of 62 patients with ages ranging from 1 to 12 years old were enrolled in the study. Adenoid surface, adenoid core and middle meatus microbiota were compared. A close association between adenoid colonization and nasal infection was found, supporting that adenoids may function as bacterial reservoir for upper airway infection. The obtained results also contribute to explain the success of adenoidectomy in patients with infectious indications.

  20. Colonization by Candida in children with cancer, children with cystic fibrosis, and healthy controls.

    PubMed

    Gammelsrud, K W; Sandven, P; Høiby, E A; Sandvik, L; Brandtzaeg, P; Gaustad, P

    2011-12-01

    A longitudinal, prospective study was conducted intermittently in Norway, from 1999 to 2008, to investigate the Candida colonization rates and species distributions in the tonsillopharyngeal and faecal flora in: (i) children with cancer; (ii) children with cystic fibrosis (CF); and (iii) healthy children. The effect of antibiotic treatment on Candida colonization was also studied, and we looked for changes in antifungal susceptibility over time within each child and between the different groups of children. In total, 566 tonsillopharyngeal swabs and 545 faecal samples were collected from 45 children with cancer, 37 children with CF, and 71 healthy, age-matched controls. The overall colonization rate with Candida was not significantly higher in the two groups of children undergoing extensive treatment with broad-spectrum antibiotics than in healthy controls. Approximately one-third of the cancer patients had a total lack of Candida colonization or had only one Candida-positive sample, despite multiple samples being taken, treatment with broad-spectrum antibiotics, long hospital stays, and periods with neutropenia. Children with CF had the highest prevalence of Candida albicans. Amoxycillin, azithromycin, third-generation cephalosporins and oral vancomycin resulted in a significantly increased Candida colonization rate. Phenoxymethylpenicillin, second-generation cephalosporins, metronidazole, trimethoprim-sulphamethoxazole, ciprofloxacin, penicillinase-resistant penicillins and inhaled tobramycin or colistin showed minimal effects on the Candida colonization rate. We found no evidence of development of antifungal resistance over time.

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

    ClinicalTrials.gov

    2017-03-21

    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

  2. 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

  3. 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.

  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. Adenoid basal hyperplasia of the uterine cervix: a lesion of reserve cell type, distinct from adenoid basal carcinoma.

    PubMed

    Kerdraon, Olivier; Cornélius, Aurélie; Farine, Marie-Odile; Boulanger, Loïc; Wacrenier, Agnès

    2012-12-01

    Adenoid basal hyperplasia is an underrecognized cervical lesion, resembling adenoid basal carcinoma, except the absence of deep invasion into the stroma. We report a series of 10 cases, all extending less than 1 mm from the basement membrane. Our results support the hypothesis that adenoid basal hyperplasia arises from reserve cells of the cervix. Lesions were found close to the squamocolumnar junction, in continuity with the nearby subcolumnar reserve cells. They shared the same morphology and immunoprofile using a panel of 4 antibodies (keratin 5/6, keratin 14, keratin 7 and p63) designed to differentiate reserve cells from mature squamous cells and endocervical columnar cells. We detected no human papillomavirus infection by in situ hybridization targeting high-risk human papillomavirus, which was concordant with the absence of immunohistochemical p16 expression. We demonstrated human papillomavirus infection in 4 (80%) of 5 adenoid basal carcinoma, which is in the same range as previous studies (88%). Thus, adenoid basal hyperplasia should be distinguished from adenoid basal carcinoma because they imply different risk of human papillomavirus infection and of subsequent association with high-grade invasive carcinoma. In our series, the most reliable morphological parameters to differentiate adenoid basal hyperplasia from adenoid basal carcinoma were the depth of the lesion and the size of the lesion nests. Furthermore, squamous differentiation was rare in adenoid basal hyperplasia and constant in adenoid basal carcinoma. Finally, any mitotic activity and/or an increase of Ki67 labeling index should raise the hypothesis of adenoid basal carcinoma.

  6. 18F FPPRGD2 PET/CT or PET/MRI in Predicting Early Response in Patients With Cancer Receiving Anti-Angiogenesis Therapy

    ClinicalTrials.gov

    2017-03-12

    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

  7. MRI of nasopharyngeal adenoid hypertrophy.

    PubMed

    Surov, Alexey; Ryl, Ina; Bartel-Friedrich, Sylvia; Wienke, Andreas; Kösling, Sabrina

    2016-10-01

    Nasopharyngeal adenoid hypertrophy (NAH) is a typical benign lesion. Due to involution, nasopharyngeal lymphatic tissue usually is not found in adults beyond the 30th to 40th year of life. However, occasionally NAH has been recognized after the 50th or 60th year. The aim of this study is to identify the frequency of NAH and to analyze its MRI findings in different age groups. From 2007 to 2011, 6693 MR investigations of the head were performed at our institution. MRI was obtained with a 1.5 T MRI device. NAH was identified in 18.0% of the patients. The frequency of NAH varied from 60.3% to 1.0% in the different age groups. The mean size of NAH was 23.2 ± 4.5 mm in cranio-caudal, 31.1 ± 5.2 mm in left-right, and 14.2 ± 4.1 mm in the anterior-posterior direction. The left-right and cranio-caudal sizes of NAH were largest in the 0-9 age group and decreased with age. On T1-w images most lesions (95.4%) were hypointense in comparison to the adjacent musculature. On T2-w fat-saturated images 82.4% of the lesions were hyperintense. After intravenous administration of contrast medium most lesions showed a slight enhancement (58.6%). Moderate enhancement was seen in 32.4% and a marked enhancement was identified in 9.0%. In the 0-9 age group most lesions showed a slight enhancement. Cysts within NAH were identified in 433 cases (35.9%). The frequency of cysts increased continuously with age, namely from 10.9% to 65.2%.

  8. 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

  9. Primary cutaneous adenoid carcinoma of the scalp.

    PubMed

    Keck, Meike; Ueberreiter, Klaus; Tanzella, Ursula; Doll, Dietrich; Krapohl, Björn Dirk

    2012-01-01

    Primary adenoid carcinoma are rare skin tumors. We present a 75-year-old female with this primary cutaneous tumor of the scalp with additional bone involvement. Wide scalp excision with bone enclosure, latissimus-dorsi-free-flap defect overage, and subsequent radiation slowed down the disease but could not prevent further skull infiltration.

  10. 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.

  11. 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. ...

  12. 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- ...

  13. Craniofacial morphology in children with cystic fibrosis.

    PubMed

    Hellsing, E; Brattström, V; Strandvik, B

    1992-04-01

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

  14. 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.

  15. 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

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

    ClinicalTrials.gov

    2017-03-28

    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

  17. Acquired Cystic Kidney Disease

    MedlinePlus

    ... They Work Kidney Disease A-Z Acquired Cystic Kidney Disease What is acquired cystic kidney disease? Acquired cystic kidney disease happens when a ... cysts. What are the differences between acquired cystic kidney disease and polycystic kidney disease? Acquired cystic kidney ...

  18. 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.

  19. 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

  20. Esophageal Cancers: A Clinicopathologic and Immunohistochemical Study of 223 Cases

    PubMed Central

    Terada, Tadashi

    2009-01-01

    The author reviewed 950 cases of consecutive esophageal biopsies in the last 15 years in out pathology laboratory of our hospital. There were 223 malignant lesions (23.5%). The number and frequency (percentages) were as follows: 54 mild dysplasia (5.7%), 30 moderate dyplasia (3.2%), 32 severe dysplasia (3.4%), 13 carcinoma in situ (1.4%), 71 squamous cell carcinoma (7.5%), 7 primary adenocarcinoma (0.7%), 1 primary signet ring cell carcinoma (0.1%), 4 primary small cell carcinoma (0.4%), 2 primary amelanotic malignant melanoma (0.2%), 1 primary undifferentiated sarcoma (0.1%), 7 gastric cancer invasion (0.7%), and 1 primary adenoid cystic carcinoma (0.1%). In this article, the clinical, histopathologic and immunohistochemical features of these esophageal cancers were described. PMID:27933124

  1. What Causes Cystic Fibrosis?

    MedlinePlus

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

  2. 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

  3. Endoscopic Evaluation of Adenoids: Reproducibility Analysis of Current Methods

    PubMed Central

    Hermann, Juliana Sato; Sallum, Ana Carolina; Pignatari, Shirley Shizue Nagata

    2013-01-01

    Objectives To investigate intra- and interexaminers' reproducibility of usual adenoid hypertrophy assessment methods, according to nasofiberendoscopic examination. Methods Forty children of both sexes, ages ranging between 4 and 14 years, presenting with nasal obstruction and oral breathing suspected to be caused by adenoid hypertrophy, were enrolled in this study. Patients were evaluated by nasofiberendoscopy, and records were referred to and evaluated by two experienced otolaryngologists. Examiners analysed the records according to different evaluation methods; i.e., estimated, and measured percentage of choanal occlusion; as well as subjective and objective classificatory systems of adenoid hypertrophy. Results Data disclosed excellent intraexaminer reproducibility for both estimated and measured choanal occlusion. analysis revealed lower reproducibility rates of estimated in relation to measured choanal occlusion. Measured choanal occlusion also demonstrated less agreement among evaluations made through the right and left sides of the nasal cavity. Alternatively, intra- and interexaminers reliability analysis revealed higher agreement for subjective than objective classificatory system. Besides, subjective method demonstrated higher agreement than the objective classificatory system, when opposite sides were compared. Conclusion Our results suggest that measured is superior to estimated percentage of choanal occlusion, particularly if employed bilaterally, diminishing the lack of agreement between sides. When adenoid categorization is used instead, the authors recommend subjective rather than objective classificatory system of adenoid hypertrophy. PMID:23526477

  4. Cystic Fibrosis

    PubMed Central

    Asay, Lyal D.

    1965-01-01

    Cystic fibrosis, a disease thought to be transmitted as a recessive genetic trait, is found as a disease in about one in 1,000 to one in 10,000 births. It involves all of the exocrine glands with presenting symptoms dependent upon the extent of involvement of any group of glands. Many aspects of the disease can be corrected by substitution therapy. This applies particularly to the use of animal pancreas for the steatorrhea and salt for prevention of heat prostration. Unfortunately, the obstructive pulmonary disease with secondary bronchial infections can only be treated symptomatically by the use of mucus thinning agents, postural drainage, and antibiotics. Nevertheless, longevity can be increased and a great deal of hope offered to the families of these unfortunate children by careful supervision of their medical care. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10.Figure 11. PMID:14288148

  5. Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers

    ClinicalTrials.gov

    2017-01-31

    Adenoid Cystic Carcinoma; Adnexal Carcinoma; Apocrine Carcinoma; Eccrine Porocarcinoma; Extraocular Cutaneous Sebaceous Carcinoma; Hidradenocarcinoma; Keratoacanthoma; Malignant Sweat Gland Neoplasm; Merkel Cell Carcinoma; Microcystic Adnexal Carcinoma; NK-Cell Lymphoma, Unclassifiable; Non-Melanomatous Lesion; Paget Disease; Papillary Adenocarcinoma; Primary Cutaneous Mucinous Carcinoma; Refractory Anaplastic Large Cell Lymphoma; Refractory Cutaneous T-Cell Non-Hodgkin Lymphoma; Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma; Refractory Mycosis Fungoides; Refractory T-Cell Non-Hodgkin Lymphoma; Sezary Syndrome; Signet Ring Cell Carcinoma; Skin Basal Cell Carcinoma; Skin Basosquamous Cell Carcinoma; Skin Squamous Cell Carcinoma; Spiradenocarcinoma; Squamous Cell Carcinoma of Unknown Primary Origin; Stage III Skin Cancer; Stage IV Skin Cancer; Sweat Gland Carcinoma; Trichilemmocarcinoma; Vulvar Squamous Cell Carcinoma

  6. 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

  7. Bilateral Cystic Adrenal Neuroblastoma with Cystic Liver metastasis

    PubMed Central

    Aslan, Mine; Kalyoncu, Ayse Ucar; Habibi, Hatice Arioz; Ozdemir, Gul Nihal; Koc, Basak; Adaletli, Ibrahim

    2017-01-01

    Bilateral congenital cystic adrenal neuroblastoma (NB) with cystic liver metastasis is a very rare condition and only few cases have been reported in the literature. Herein we report a case of a congenital bilateral cystic adrenal NB with cystic liver metastasis and briefly discuss characteristic imaging features of cystic NB. PMID:28163998

  8. 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

  9. 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

  10. Oncogene amplification pattern in adenoid cystic carcinoma of the salivary glands.

    PubMed

    Sequeiros-Santiago, Guadalupe; García-Carracedo, Dario; Fresno, Manuel F; Suarez, Carlos; Rodrigo, Juan P; Gonzalez, M Victoria

    2009-05-01

    The aim of the present study was the search of molecular alterations (oncogene amplification or protein overexpression) that could have an impact on the outcome of ACC patients. For this purpose, paraffin-embedded tissue samples of primary ACC of 24 patients were collected. Oncogenic amplification status of six targets previously described to be involved in human carcinogenesis (ERBB1, KIT, PIK3CA, CCND1, MYC and MDM2) were studied by a PCR-based semiquantitative approach. C-Kit, cyclin D1 and EGFR protein levels were immunohistochemically assessed. ERBB1, CCND1 and PIK3CA were frequent targets of oncogene amplification (67, 46 and 38%, respectively). C-Kit and cyclin D1 were overexpressed in 57 and 82%, respectively. CCND1 amplification was associated with advanced tumour stage and ERBB1 amplification to distant metastasis. ERBB1/CCND1/PIK3CA coamplification was the most consistently observed pattern (29%). The cases with this amplification pattern presented a reduced survival. This study points to the importance of ERBB1, CCND1 and PIK3CA oncogenic amplification status in ACC carcinogenesis.

  11. Cystic Lung Diseases: Algorithmic Approach.

    PubMed

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

    2016-10-01

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

  12. 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

  13. [An association between adenoid hypertrophy and exstra-gastroesophageal reflux disease].

    PubMed

    Ren, Jianjun; Zhao, Yu; Ren, Xue

    2015-08-01

    Adenoid hypertrophy is a disease that mostly occurs among children of 3-5 years old. It is caused by repeated inflammation and infection of nasopharynx and its adjoin parts, or the adenoid itself, which will finally leads to pathological hyperplasia of adenoid. With so much information we have acquired about this disease, its specific mechanism remains unknown. In recent years, some researches have indicated that adenoid hypertrophy may have something to do with extra-gastroesophageal reflux, in which pepsin plays a very important role, and pepsin will do a series of pathological damages to the upper airway as it reaches the upper respiratory tract. Based on relative domestic and foreign literature, this paper attempts to make a review about the relationship between gastroesophageal reflux and adenoid hypertrophy.

  14. Chromomycosis: Subcutaneous cystic type.

    PubMed

    Agrawal, S N; Bhise, P R; Sony, P R

    2000-01-01

    A 38-year -old male farmer presented with a solitary, asymptomatic, cystic lesion on the palm since last four years. He underwent excision of this cyst two times during this period but the lesion recurred near the same site. The histopathology and the microbiological examination led to the diagnosis of the rare subcutaneous cystic type of chromomycosis.

  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. [The possibilities for the treatment of exudative otitis media in the children presenting with chronic adenoiditis].

    PubMed

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

    2014-01-01

    The objective of the present study was to improve the effectiveness of medicamental therapy of exudative otitis media in the children with recurrent and chronic adenoiditis. It was shown that the use of fluifort (carbocysteine lysine salt) for the treatment of exudative otitis media in the children presenting with chronic adenoiditis is a more effective approach in comparison with the expectant management. It is concluded that the application of carbocysteine lysine salt in combination with the mometasone furoate nasal spray ensures the rapid elimination of the symptoms of adenoiditis and significantly accelerates the resolution of exudative otitis media compared with the monotherapeutic treatment.

  17. Diabetes in cystic fibrosis.

    PubMed

    Bridges, Nicola

    2013-05-01

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

  18. Spatial organisation of microbiota in quiescent adenoiditis and tonsillitis

    PubMed Central

    Swidsinski, A; Göktas, Ö; Bessler, C; Loening‐Baucke, V; Hale, L P; Andree, H; Weizenegger, M; Hölzl, M; Scherer, H; Lochs, H

    2007-01-01

    Background The reasons for recurrent adenotonsillitis are poorly understood. Methods The in situ composition of microbiota of nasal (5 children, 25 adults) and of hypertrophied adenoid and tonsillar tissue (50 children, 20 adults) was investigated using a broad range of fluorescent oligonucleotide probes targeted to bacterial rRNA. None of the patients had clinical signs of infection at the time of surgery. Results Multiple foci of ongoing purulent infections were found within hypertrophied adenoid and tonsillar tissue in 83% of patients, including islands and lawns of bacteria adherent to the epithelium, with concomitant marked inflammatory response, fissures filled with bacteria and pus, and diffuse infiltration of the tonsils by bacteria, microabscesses, and macrophages containing phagocytosed microorganisms. Haemophilusinfluenzae mainly diffusely infiltrated the tissue, Streptococcus and Bacteroides were typically found in fissures, and Fusobacteria,Pseudomonas and Burkholderia were exclusively located within adherent bacterial layers and infiltrates. The microbiota were always polymicrobial. Conclusions Purulent processes persist during asymptomatic periods of adenotonsillitis. Most bacteria involved in this process are covered by a thick inflammatory infiltrate, are deeply invading, or are located within macrophages. The distribution of the bacteria within tonsils may be responsible for the failure of antibiotic treatment. PMID:16698947

  19. 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 ...

  20. 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 ...

  1. High-throughput genomic profiling of adult solid tumors reveals novel insights into cancer pathogenesis.

    PubMed

    Hartmaier, Ryan J; Albacker, Lee; Chmielecki, Juliann; Bailey, Mark; He, Jie; Goldberg, Michael; Ramkissoon, Shakti; Suh, James; Elvin, Julia A; Chiacchia, Samuel; Frampton, Garrett M; Ross, Jeffrey S; Miller, Vincent; Stephens, Philip J; Lipson, Doron

    2017-02-24

    Genomic profiling is widely predicted to become a standard of care in clinical oncology, but more effective data sharing to accelerate progress in precision medicine will be required. Here we describe cancer-associated genomic profiles from 18,004 unique adult cancers. The dataset was composed of 162 tumor subtypes including multiple rare and uncommon tumors. Comparison of alteration frequencies to The Cancer Genome Atlas (TCGA) identified some differences and suggested an enrichment of treatment-refractory samples in breast and lung cancer cohorts. To illustrate novelty within the dataset, we surveyed the genomic landscape of rare diseases and identified an increased frequency of NOTCH1 alterations in adenoid cystic carcinomas compared to previous studies. Analysis of tumor suppressor gene patterns revealed disease specificity for certain genes but broad inactivation of others. We identified multiple potentially druggable, novel and known kinase fusions in diseases beyond those in which they are currently recognized. Analysis of variants of unknown significance identified an enrichment of SMAD4 alterations in colon cancer and other rare alterations predicted to have functional impact. Analysis of established, clinically relevant alterations highlighted the spectrum of molecular changes for which testing is currently recommended, as well as opportunities for expansion of indications for use of approved targeted therapies. Overall, this dataset presents a new resource with which to investigate rare alterations and diseases, validate clinical relevance, and identify novel therapeutic targets.

  2. 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.

  3. Craniofacial skeletal pattern: is it really correlated with the degree of adenoid obstruction?

    PubMed Central

    Feres, Murilo Fernando Neuppmann; Muniz, Tomas Salomão; de Andrade, Saulo Henrique; Lemos, Maurilo de Mello; Pignatari, Shirley Shizue Nagata

    2015-01-01

    OBJECTIVE: The aim of this study was to compare the cephalometric pattern of children with and without adenoid obstruction. METHODS: The sample comprised 100 children aged between four and 14 years old, both males and females, subjected to cephalometric examination for sagittal and vertical skeletal analysis. The sample also underwent nasofiberendoscopic examination intended to objectively assess the degree of adenoid obstruction. RESULTS: The individuals presented tendencies towards vertical craniofacial growth, convex profile and mandibular retrusion. However, there were no differences between obstructive and non-obstructive patients concerning all cephalometric variables. Correlations between skeletal parameters and the percentage of adenoid obstruction were either low or not significant. CONCLUSIONS: Results suggest that specific craniofacial patterns, such as Class II and hyperdivergency, might not be associated with adenoid hypertrophy. PMID:26352848

  4. Genetics Home Reference: cystic fibrosis

    MedlinePlus

    ... signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of ... with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral ...

  5. 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

  6. 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

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

    PubMed

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

    2011-01-01

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

  8. The pathogens profile in children with otitis media with effusion and adenoid hypertrophy

    PubMed Central

    Buzatto, G. P.; Tamashiro, E.; Proenca-Modena, J. L.; Saturno, T. H.; Prates, M. C.; Gagliardi, T. B.; Carenzi, L. R.; Massuda, E. T.; Hyppolito, M. A.; Valera, F. C. P.; Arruda, E.; Anselmo-Lima, W. T.

    2017-01-01

    Objectives To evaluate the presence of viruses and bacteria in middle ear and adenoids of patients with and without otitis media with effusion (OME). Methods Adenoid samples and middle ear washes (MEW) were obtained from children with OME associated with adenoid hypertrophy undergoing adenoidectomy and tympanostomy, and compared to those obtained from patients undergoing cochlear implant surgery, as a control group. Specific DNA or RNA of 9 respiratory viruses (rhinovirus, influenza virus, picornavirus, syncytial respiratory virus, metapneumovirus, coronavirus, enterovirus, adenovirus and bocavirus) and 5 bacteria (S. pneumoniae, H. influenzae, M. catarrhalis, P. aeruginosa and S. aureus) were extracted and quantified by real-time PCR. Results 37 OME and 14 cochlear implant children were included in the study. At the adenoid, virus and bacteria were similarly detected in both OME and control patients. At the middle ear washes, however, a higher prevalence of bacteria was observed in patients with OME (p = 0.01). S. pneumoniae (p = 0.01) and M. catarrhalis (p = 0.022) were the bacteria responsible for this difference. Although total virus detection was not statistically different from controls at the middle ear washes (p = 0.065), adenovirus was detected in higher proportions in adenoid samples of OME patients than controls (p = 0.019). Conclusions Despite both OME and control patients presented similar rates of viruses and bacteria at the adenoid, children with OME presented higher prevalence of S. pneumonia, M. catarrhalis in middle ear and adenovirus in adenoids when compared to controls. These findings could suggest that these pathogens could contribute to the fluid persistence in the middle ear. PMID:28231295

  9. Prevalence of human papillomavirus and Epstein-Barr virus DNA in Chinese children with tonsillar and/or adenoidal hypertrophy.

    PubMed

    Xue, Xiao-cheng; Chen, Xiao-ping; Yao, Wen-hao; Zhang, Yi; Sun, Guang-bin; Tan, Xue-jun

    2014-06-01

    Tonsillar and adenoidal hypertrophy are prevalent otolaryngologic disorders in children, but their pathogenesis is largely unknown. The presence of human papillomavirus (HPV) and Epstein-Barr virus (EBV) DNA in 146 tonsil and/or adenoid tissue specimens from 104 Chinese children with tonsillar and/or adenoidal hypertrophy were screened using flow-through hybridization gene-chip technology and real-time fluorescence-based quantitative PCR. Then, the relationships between the prevalence of the viruses and other clinical characteristics of tonsillar and/or adenoidal hypertrophy were analyzed. No patient had HPV DNA. EBV DNA was detected in 19/42 (45.2%) tonsil tissues and 72/104 (69.2%) adenoid tissue specimens (P < 0.05). EBV DNA was not related to the patients' age, gender, disease course, or nationality, but children positive for EBV were less likely to snore; 14/15 (93.3%) patients who did not snore and 59/89 (66.3%) patients who snored were EBV positive. EBV DNA, but not HPV DNA was detected in Chinese children with tonsillar and/or adenoidal hypertrophy. Adenoid tissues might more susceptible than tonsil tissues to EBV infection. In addition, EBV infection did not aggravate snoring in patients with tonsillar and/or adenoidal hypertrophy.

  10. Community level evaluation of adenoid hypertrophy on the basis of symptom scoring and its X-ray correlation

    PubMed Central

    Dixit, Yogita; Tripathi, Prem Siddharth

    2016-01-01

    Introduction: One of the major causes of pediatric morbidity today at the community level is infection involving the ear, nose, and throat. Maximum of these patients respond well initially on general regular medications, but then recurrent complaints are not very uncommon. One of the major causes for such recurrence is hypertrophy of adenoids, the evaluation of which requires a battery of sophisticated investigative tools and expertise which are lacking at the community level. The aim of the study is to evaluate various symptoms related to adenoid hypertrophy and its correlation to the size of the adenoid seen in the lateral view nasopharyngeal X-ray. The aim of the study was to assess various symptoms related to adenoid hypertrophy and its correlation with the size of adenoid radiologically. Methods: A total of fifty cases of pediatric age with strong clinical suspicion of adenoid hypertrophy were included in the study. Through ENT examination was done. X-ray lateral view nasopharynx was obtained. Results: Adenoid hypertrophy was graded according to symptoms score and lateral cephalometric/radiographs. Snoring was the most frequent symptom which had a linear relation with the size of the adenoid. Conclusion: There was good agreement between symptom and the X-ray findings.

  11. Solitary metastatic cancer to the thyroid: a report of five cases with fine-needle aspiration cytology

    PubMed Central

    Lee, Mark W; Batoroev, Yuri K; Odashiro, Alexandre N; Nguyen, Gia-Khanh

    2007-01-01

    Three men and 2 women with ages ranging from 37 to 70 years, clinically and histologically confirmed solitary, palpable metastatic cancers to the thyroid (SMCT) and preoperative cytologic investigation of their thyroid lesions by fine-needle aspiration (FNA), were reviewed. Four patients were known to have a solid cancer treated by radical surgery 1 to 4 years prior [1 bronchogenic squamous cell carcinoma, 1 parotid adenoid cystic carcinoma, 1 renal cell carcinoma (RCC) and 1 cutaneous melanoma], and 1 patient had no past history of cancer. Direct smears prepared from the patients' thyroid FNAs were fixed in 95% ethanol and stained with the Papanicolaou method. In 3 cases, immunostaining of the aspirated tumor cells with thyroglobulin antibody was performed, and in 1 case an aspiration smear was stained with commercial HMB-45 antibody. A correct cytodiagnosis of metastatic cancer to the thyroid was made in all 5 cases. In 1 patient the thyroid FNA revealed a metastatic RCC that led to the discovery of a clinically occult RCC. All 5 patients died of metastatic disease 27 to 40 months after surgical resection of their SMCTs. PMID:17263878

  12. 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

  13. 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.

  14. Molecular Diagnosis of Cystic Fibrosis.

    PubMed

    Deignan, Joshua L; Grody, Wayne W

    2016-01-01

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

  15. Neonatal cystic fibrosis screening test

    MedlinePlus

    Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test; CF - screening ... better nutrition, growth, and lung function. This screening test helps doctors identify children with CF before they ...

  16. 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. PMID:27605998

  17. Multilocular Cystic Renal Cell Carcinoma or Cystic Nephroma?

    PubMed Central

    Cortez-Betancourt, Roberto; Alías-Melgar, Alejandro; Botello-Gómez, Pedro Jair; Ramírez-Garduño, Emilio; Trujillo-Vázquez, Eric Iván; Torres-Santos, Yosimart; Mata-Martínez, José Antonio; Carreño- de la Rosa, Fernando

    2016-01-01

    The incidence of Multilocular cystic renal cell carcinoma (MCRCC) in literature is very low and confounding MCRCC with cystic nephroma (CN) is even more unusual. The aim of this report is to present a case of MCRCC and emphasize the importance of the preoperative radiologic evaluation and immunohistochemical staining confirmation to obtain an accurate diagnosis. A 73-year-old woman presented with a history of 4-month right flank pain. CT showed a Bosniak type III renal mass. After laparoscopic partial nephrectomy the initial report was cystic nephroma. Immunohistochemical staining was performed being positive for Epithelial Membrane Antigen thus changing the diagnosis to MCRCC. Multilocular cystic renal cell carcinoma cannot reliably be distinguished from cystic nephroma neither by physical examination nor by radiologic evaluation; immunohistochemical staining assay is useful to differentiate between these conditions allowing an accurate diagnosis and proper follow-up. PMID:28074169

  18. Cystic Fibrosis: Diet and Nutrition

    MedlinePlus

    ... in the Operating Room? Cystic Fibrosis: Diet and Nutrition KidsHealth > For Kids > Cystic Fibrosis: Diet and Nutrition A A A What's in this article? CF ... is someone who knows all about food and nutrition. Each kid is different, but most kids with ...

  19. Cystic Fibrosis: Diet and Nutrition

    MedlinePlus

    ... Getting an X-ray Cystic Fibrosis: Diet and Nutrition KidsHealth > For Kids > Cystic Fibrosis: Diet and Nutrition Print A A A What's in this article? ... is someone who knows all about food and nutrition. Each kid is different, but most kids with ...

  20. Cystic fibrosis related diabetes.

    PubMed

    O'Shea, Donal; O'Connell, Jean

    2014-08-01

    Improved life expectancy in cystic fibrosis (CF) has led to an expanding population of adults with CF, now representing almost 50 % of the total CF population. This creates new challenges from long-term complications such as diabetes mellitus (DM), a condition that is present in 40 %-50 % of adults with CF. Cystic fibrosis-related diabetes (CFRD) results from a primary defect of insulin deficiency and although sharing features with type 1 (DM1) and type 2 diabetes (DM2), it is a clinically distinct condition. Progression to diabetes is associated with poorer CF clinical outcomes and increased mortality. CFRD is not associated with an increased risk of cardiovascular disease and the prevalence of microvascular complications is lower than DM1 or DM2. Rather, the primary goal of insulin therapy is the preservation of lung function and optimization of nutritional status. There is increasing evidence that appropriate screening and early intervention with insulin can reverse weight loss and improve pulmonary function. This approach may include targeting postprandial hyperglycemia not detected by standard diagnostic tests such as the oral glucose tolerance test. Further clinical research is required to guide when and how much to intervene in patients who are already dealing with the burden of one chronic illness.

  1. Cystic fibrosis in Uruguay.

    PubMed

    Luzardo, Gerardo; Aznarez, Isabel; Crispino, Beatriz; Mimbacas, Adriana; Martínez, Liria; Poggio, Rossana; Zielenski, Julian; Tsui, Lap-Chee; Cardoso, Horacio

    2002-03-31

    We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the DeltaF508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71%. Fifteen different mutations were detected in our patients: DeltaF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, DeltaI507, 2789+5G-->A, R1066C, -816C/T, R553X, as well as RNA splicing variant IVS8-5T. This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics.

  2. Pancreatic cancer

    MedlinePlus

    ... cancer, cystic pancreatic neoplasms, and other nonendocrine pancreatic tumors. In: Feldman M, Friedman LS, Brandt LJ, ... by: Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital, Boston, MA. ...

  3. Nutritional Issues in Cystic Fibrosis.

    PubMed

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

    2016-03-01

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

  4. A bizarre abdominal cystic lesion.

    PubMed

    Zucchini, Giorgia; Pezzilli, Raffaele; Ricci, Claudio; Casadei, Riccardo; Santini, Donatella; Calculli, Lucia; Corinaldesi, Roberto

    2010-09-06

    In spite of careful intraoperative precautions and gauze counts, mistakes can still occur during surgery. In the case reported, a retained gauze leaved during a surgical approach for removing a solid-cystic papillary tumor localized in the pancreatic tail, caused both persistent abdominal discomfort and the presence of an abdominal cystic lesion at imaging techniques. When a previous operative history is present, a foreign body should be taken into account in the differential diagnosis of a patient with an intra-abdominal cystic mass. Finally, radio-opaque marker should be routinely used by surgeons in order to reach a correct diagnosis in operated patients having retained gauze.

  5. 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

  6. Pneumothorax in cystic fibrosis

    PubMed Central

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

    2014-01-01

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

  7. 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

  8. Haemophilus infection in cystic fibrosis.

    PubMed Central

    Rayner, R J; Hiller, E J; Ispahani, P; Baker, M

    1990-01-01

    Twenty seven patients with cystic fibrosis under the age of 12 years and 27 matched patients with asthma were followed up in a prospective study for one year. The isolation rate of non-capsulated strains of Haemophilus influenzae from cough swabs and sputum specimens taken at routine clinic visits every two months was significantly greater in cystic fibrosis than in asthma. Haemophilus para-influenzae was equally common in both groups. During exacerbations the isolation rate of H influenzae in cystic fibrosis was significantly greater than at other times, whereas in asthma there was no significant difference. The distribution of biotypes of H influenzae and H parainfluenzae was similar in the two groups. In cystic fibrosis, biotype I was associated with exacerbations. Biotype V was more common than in previous studies, but was not associated with exacerbations. PMID:2185699

  9. Tracheal cancer – treatment results, prognostic factors and incidence of other neoplasms

    PubMed Central

    Napieralska, Aleksandra; Miszczyk, Leszek

    2016-01-01

    Abstract Background Tracheal cancers (TC) are rare and treatment results that are reported are typically not satisfactory. The purpose of this research was assessment of the results of treatment of TC patients, identification of potential additional surgery candidates, evaluation of prognostic factors, and assessment of the occurrence of other malignancies. Patients and methods The Regional Cancer Database and the Hospital Database were searched for patients with tracheal neoplasms. Fifty-eight of 418 patients identified initially, met the inclusion criteria (primary TC with confirmed histology and complete treatment records). Standard statistical tests were used. Results Squamous cell carcinoma (SCC; 63.8%) and adenoid cystic carcinoma (ACC; 15.5%) were the most commonly diagnosed histological types of TC. Radiotherapy was delivered in 48 cases, surgery or endoscopic resection in 20, and chemotherapy in 14. TC was diagnosed as a second cancer in 10 patients, in 1 patient it occurred prior to the lung cancer, and in 1 was diagnosed simultaneously. During the median follow-up of 12.7 months, 85.5% of the patients died because of the disease. Local recurrence occurred in 17% cases. In univariate analysis, patients with ACC had statistically better five-year overall survival (77.8%) than those diagnosed with SCC (8.4%, p = 0.0001). Radiotherapy, performance status and haemoptysis were factors significantly influencing overall survival (OS) in the multivariate analysis. Among patients who were not treated surgically, 15–26% were found to constitute additional surgery candidates, depending on the selection criteria. Conclusions The diagnostic workup should be focused on the identification of TC patients suitable for invasive treatment and radiotherapy. Respiratory system cancer survivors can be considered a risk group for tracheal cancer. Radiotherapy constitutes an important part of the treatment of patients with TC. PMID:27904449

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

    MedlinePlus

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

  11. 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

  12. 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.

  13. Cystic Fibrosis (CF): Chloride Sweat Test

    MedlinePlus

    ... to 2-Year-Old Cystic Fibrosis (CF) Chloride Sweat Test KidsHealth > For Parents > Cystic Fibrosis (CF) Chloride Sweat Test Print A A A What's in this ... en el sudor What It Is A chloride sweat test helps diagnose cystic fibrosis (CF) , an inherited ...

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

    MedlinePlus

    ... de los dientes Video: Getting an X-ray Cystic Fibrosis KidsHealth > For Kids > Cystic Fibrosis Print A A A What's in this article? ... with a condition she's known all her life — cystic fibrosis (say: SIS-tik fi-BRO-sus). Her parents ...

  15. Cystic Fibrosis (CF): Chloride Sweat Test

    MedlinePlus

    ... 1- to 2-Year-Old Cystic Fibrosis (CF) Chloride Sweat Test KidsHealth > For Parents > Cystic Fibrosis (CF) Chloride Sweat Test A A A What's in this ... cloruro en el sudor What It Is A chloride sweat test helps diagnose cystic fibrosis (CF) , an ...

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

    MedlinePlus

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

  17. Radioisotope therapy of cystic craniopharyngeomas

    SciTech Connect

    Strauss, L.; Sturm, V.; Georgi, P.; Schlegel, W.; Ostertag, H.; Clorius, J.H.; Van Kaick, G.

    1982-09-01

    Eighteen patients suffering from cystic craniopharyngeoma were treated with intracavitary irradiation. The beta-emitting radioisotope /sup 90/y (2.25 MeV) was instilled into the cyst following stereotactic puncture of the space-occupying lesion. The surgical approach was planned using angiograms and reconstructed transmission computer tomography (TCT) coronal and saggital sections. Therapy was devised to deliver 20,000 rad to the cyst's wall. Eleven patients received follow-up TCT examinations after four months. Eight of 11 patients had a significant volume decrease in the craniopharyngeoma cyst. In two patients, the cystic volume remained unchanged; one had progression of disease. It is concluded that the intracavitary treatment of cystic craniopharyngeoma will result in a reduction of the size of the space-occupying lesion.

  18. 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.

  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. [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.

  1. Nutritional management of cystic fibrosis.

    PubMed Central

    MacDonald, A

    1996-01-01

    Nutritional support is an integral part of the management of cystic fibrosis patients. It is arguably best provided by a qualified dietitian and nutritional care sister working in conjunction with the rest of the cystic fibrosis team. The patient's nutritional needs should be assessed, regularly reviewed, and nutritional treatment tailored to meet the changing clinical and psychosocial needs of the patient. Nutritional intervention is not without complications, and in particular attention to normal feeding behaviour and vigilance when instituting supplementary nutrition may prevent many feeding difficulties. PMID:8660059

  2. 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

  3. Cystic lumphangioma of the colon

    SciTech Connect

    Agha, F.P.; Francis, I.R.; Simms, S.M.

    1983-10-01

    Cystic lymphangioma is a rare benign lesion of the gastrointestinal tract, in which the colon is the least frequntly involved site. A case is reported displaying the characteristic radiographic features of an extramucosal intramural mass lesion in a patient with concurrent cystadenocarcinoma of the pancreas, in whom the possibility of a metastatic lesion to the colon could not be excluded except by surgical resection.

  4. Survival rates in cystic fibrosis.

    PubMed Central

    Wilmott, R W; Tyson, S L; Dinwiddie, R; Matthew, D J

    1983-01-01

    Life tables were calculated for 273 British children with cystic fibrosis for the period 1974-9. There was a marked improvement in survival rates in the meconium ileus group compared with the 1969-73 data, but there was little improvement in patients presenting later with other symptoms. PMID:6639137

  5. Nutritional management of cystic fibrosis.

    PubMed

    Goodchild, M C

    1987-01-01

    Cystic fibrosis patients have an increased requirement for calories and probably for all the major nutrients. The newer, enteric-coated granular preparations of pancreatic enzyme are more effective than preceding preparations and should permit a normal fat intake. Recent work has emphasized the interdependence of respiratory disease and nutrition.

  6. 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

  7. Paraovarian cystic endosalpingiosis in association with tamoxifen therapy

    PubMed Central

    McCluggage, W; Weir, P

    2000-01-01

    This report describes a case of macroscopically visible cystic endosalpingiosis involving the paraovarian region in a woman who had been taking tamoxifen for breast cancer. A 2.5 cm multicystic lesion was seen on the external surface of the right ovary and histological examination showed a mass of dilated glands lined by ciliated tubal-type epithelium and set in a fibrovascular stroma. Cystic endosalpingiosis resulting in a tumour-like mass is a rarely described entity which is probably not well recognised by histopathologists. Although unlikely to be mistaken for malignancy, the lesion may result in diagnostic confusion. The role of tamoxifen in the development of the lesion in the present case is not clear but the oestrogenic effects of this drug may have contributed to its formation. Key Words: ovary • paraovarian region • endosalpingiosis, tamoxifen PMID:10767837

  8. Adenoid squamous carcinoma of the conjunctiva—a clinicopathological study of 14 cases

    PubMed Central

    Mauriello, J.; Abdelsalam, A.; McLean, I.

    1997-01-01

    AIMS—In order to determine the clinicopathological features and optimum management of a series of patients with adenoid squamous cell carcinoma of the conjunctiva, all cases of squamous cell carcinoma (SCC) of the conjunctiva and cornea on file in the registry of the ophthalmic pathology at the Armed Forces Institute of Pathology were reviewed.
METHODS—On histopathological examination, a predominant adenoid or pseudoglandular pattern due to islands of neoplastic squamous or epidermoid cells surrounded by acantholytic cells was necessary for inclusion in the study. Histochemical and transmission electron microscopic studies (TEM) were performed. Clinical features of all the patients were extracted from the charts.
RESULTS—The anatomical location of the 14 tumours was corneoscleral limbus (seven patients) and bulbar conjunctiva (seven patients). Eight patients presented with inflammatory signs and irritation (red eye, tearing, foreign body sensation), while six patients developed a slowly growing, painless mass. Histochemical and TEM studies showed extracellular hyaluronic acid and no intracellular mucin. Of the two patients initially treated by enucleation, one was free of disease after 2 years while the second patient had recurrence in the socket and died of brain metastases despite wide orbital excision and radiotherapy. All five patients with recurrent tumours initially had irritated red eyes and two required enucleation. One such patient, after orbital exenteration and radiotherapy, died of unrelated disease.
CONCLUSION—The study demonstrates that adenoid SCC of the conjunctiva often presents with inflammatory signs. The tumour is locally aggressive and may metastasise and should, therefore, be histopathologically differentiated from the less aggressive conventional squamous cell carcinoma. Optimum treatment includes wide excision with documented histological clear margins of resection on permanent sections and frequent follow up.

 PMID

  9. Laparoscopic management of enlarged cystic duct.

    PubMed

    Nowzaradan, Y; Meador, J; Westmoreland, J

    1992-12-01

    After laparoscopic exploration of the common bile duct, or when a patient has acute cholecystitis, the cystic duct is sometimes edematous and too large to be ligated safely with an Endoclip. In such cases, ligation of the cystic duct with an Endoloop offers a solution to the problem. The standard technique for application of an Endoloop consists of dividing the cystic duct and then applying the Endoloop. This becomes more difficult if, after the cystic duct is divided, loss of traction on the common bile duct results in retraction of the divided cystic stump outside of the laparoscopic field of view. To avoid this difficulty, the authors apply an Endoloop with the grasping forceps on the cystic duct before the duct is divided so that it cannot retract from operative view and for this task developed an instrument that allows simultaneous introduction of both grasping forceps and the Endoloop through a single port.

  10. Biomarkers in Paediatric Cystic Fibrosis Lung Disease.

    PubMed

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

    2015-09-01

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

  11. Cystic Fibrosis Research | NIH MedlinePlus the Magazine

    MedlinePlus

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

  12. 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.

  13. Utility of antimicrobial susceptibility testing of multiple Haemophilus influenzae isolates from throat swabs of children with adenoid hypertrophy.

    PubMed

    Antos-Bielska, Małgorzata; Lau-Dworak, Magdalena; Olszewska-Sosińska, Olga; Zielnik-Jurkiewicz, Beata; Trafny, Elżbieta A

    2014-07-01

    Eleven out of 40 children with adenoiditis were colonized with multiple genotypes of Haemophilus influenzae. Heterogeneous antibiotic susceptibility to ampicillin and cotrimoxazole was observed in 6 children. A multiple-colony methodology may potentially help to find the resistant strains of H. influenzae in patients who do not respond to the antibiotic treatment.

  14. Nasal Foreign Body, Dislodged and Lost – Can the Adenoids Help?

    PubMed Central

    Jotdar, Arijit; Mukhopadhyay, Subrataataata

    2015-01-01

    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

  15. 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

  16. Negative sweat tests and cystic fibrosis.

    PubMed Central

    Sarsfield, J K; Davies, J M

    1975-01-01

    Two brothers are described with chronic suppurative pulmonary disease. One has classical cystic fibrosis with complete pancreatic involvement and abnormal sweat test. The other had incomplete pancreatic disease with repeatedly normal sweat tests. The implications of a negative sweat test in patients with cystic fibrosis are discussed. Images FIG. PMID:1147688

  17. 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.

  18. [Bronchopulmonary infection in cystic fibrosis].

    PubMed

    Munck, Anne; Bingen, Edouard

    2003-01-15

    Bronchopulmonary infection determines the vital prognosis of the patients with cystic fibrosis. Following Staphylococcus aureus infection, patients are colonized or cocolonized by Pseudomonas aeruginosa, greatly involved in the pulmonary deterioration; intensive antibiotic treatment of primocolonisation helps to prevent or delay chronic colonisation. Chronic colonization needs a rational long term antibiotic strategy to prevent the occurrence of multiresistant germs; antibiotic cures are performed every 3 or 4 months before pulmonary exacerbation symptoms. Antibiotherapy, physiotherapy and nutritional management helps to increase the survival and quality of life.

  19. 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.

  20. Giant cystic primary mucoepidermoid carcinoma of mandible: a rare case and literature review.

    PubMed

    Verma, Roshan Kumar; Sunku, Satheesh Kumar; Bal, Amanjeet; Panda, Naresh K

    2014-01-01

    Primary intra-osseous mucoepidermoid carcinoma arising from jaw is an extremely rare condition accounting to less than 2% of all mucoepidermoid carcinomas. In the jaw, it occurs more commonly in mandible than maxilla. They are low-grade cancers and affect jaw as uni- or multi-locular radiographic lesions. Here we discuss a rare case of giant cystic primary intra-cystic mucoepidermoid carcinoma of the mandible which was excised in toto. Here we discuss the clinical features, radiological and histological characteristics of this rare lesion, and review the literature.

  1. 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

  2. Androgen excess in cystic acne.

    PubMed

    Marynick, S P; Chakmakjian, Z H; McCaffree, D L; Herndon, J H

    1983-04-28

    We measured hormone levels in 59 women and 32 men with longstanding cystic acne resistant to conventional therapy. Affected women had higher serum levels of dehydroepiandrosterone sulfate, testosterone, and luteinizing hormone and lower levels of sex-hormone-binding globulin than controls. Affected men had higher levels of serum dehydroepiandrosterone sulfate and 17-hydroxyprogesterone and lower levels of sex-hormone-binding globulin than controls. To lower dehydroepiandrosterone sulfate, dexamethasone was given to men, and dexamethasone or an oral contraceptive pill, Demulen (or both), was given to women. Of the patients treated for six months, 97 per cent of the women and 81 per cent of the men had resolution or marked improvement in their acne. The dose of dexamethasone required to reduce dehydroepiandrosterone sulfate levels was low, rarely exceeding the equivalent of 20 mg of hydrocortisone per day. We conclude that most patients with therapeutically resistant cystic acne have androgen excess and that lowering elevated dehydroepiandrosterone sulfate results in improvement or remission of acne in most instances.

  3. Internal irradiation for cystic craniopharyngioma

    SciTech Connect

    Kobayashi, T.; Kageyama, N.; Ohara, K.

    1981-12-01

    The authors report the results of internal irradiation with labeled chromic phosphate (32P) and gold-198 (198Au) colloid in eight cases of cystic craniopharyngiomas. They used a newly developed dosimetric formula, by which the radiation dose at the cyst wall and at any point far from the radioactive source can be calculated. Ten courses of irradiation in eight patients were carried out by injection of either 32P or 198Au colloid into the cyst through an Ommaya drainage system that had been placed at craniotomy. Follow-up studies ranging from 13 to 156 months revealed that all cysts were effectively treated, with elimination of fluid or collapse of the cyst. This was confirmed by Conray cystography and/or computerized tomography. Not only the dose delivered to the wall but also the thickness of the cyst wall and the location of the cyst are important factors in planning internal irradiation. A safe and adequate dose to the cyst wall could range between 9000 to 30,000 rads for craniopharyngioma. This treatment is suitable for large cysts that are thought to be difficult to remove radically, recurrent cysts resistant to previous treatment, or multiple cysts. Internal irradiation may also be applicable in other cystic intracranial tumors if dosimetry is calculated accurately.

  4. Characteristics and Treatments of Large Cystic Brain Metastasis: Radiosurgery and Stereotactic Aspiration

    PubMed Central

    Kim, Moinay; Cheok, Stephanie; Chung, Lawrance K.; Ung, Nolan; Thill, Kimberly; Voth, Brittany; Kwon, Do Hoon; Kim, Jeong Hoon; Kim, Chang Jin; Tenn, Stephen; Lee, Percy

    2015-01-01

    Brain metastasis represents one of the most common causes of intracranial tumors in adults, and the incidence of brain metastasis continues to rise due to the increasing survival of cancer patients. Yet, the development of cystic brain metastasis remains a relatively rare occurrence. In this review, we describe the characteristics of cystic brain metastasis and evaluate the combined use of stereotactic aspiration and radiosurgery in treating large cystic brain metastasis. The results of several studies show that stereotactic radiosurgery produces comparable local tumor control and survival rates as other surgery protocols. When the size of the tumor interferes with radiosurgery, stereotactic aspiration of the metastasis should be considered to reduce the target volume as well as decreasing the chance of radiation induced necrosis and providing symptomatic relief from mass effect. The combined use of stereotactic aspiration and radiosurgery has strong implications in improving patient outcomes. PMID:25977901

  5. 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

  6. Effects of leukotriene D4 on adenoidal T cells in children with obstructive sleep apnea syndrome

    PubMed Central

    Shu, Yan; Yang, Da-Zhi; Liang, Jia; Zhang, Feng; Wang, Bing; Yao, Hong-Bing; Liu, En-Mei

    2016-01-01

    Purpose: This study aims to determine whether leukotriene D4 (LTD4) can promote T cell proliferation in adenoid tissues via activation of CysLT1 receptors in children with OSAS. Methods: CD4+ and CD8+ T cell proliferation was assessed by flow cytometry in adenoid mononuclear cells (AdMCs) stimulated with LTD4 from children with OSAS. The activation of mitogen-activated protein kinase pathways and their effects on the proliferation of CD4+ and CD8+ T cells in AdMCs were observed by western blotting. Results: LTD4 increased the proliferation rates of both phytohemagglutinin (PHA)-stimulated CD4+ T cells (15.5±8.4% in the PHA group vs. 24.8±6.3% in the PHA+LTD4 group; n=27; P<0.001) and CD8+ T cells (17.2±5.9% in the PHA group vs. 23.5±5.2% in the PHA+LTD4 group; n=27; P<0.05) in AdMCs. LTD4 (10-4 mmol) significantly increased the phosphorylation of extracellular signal-regulated kinase (ERK1/2) and p38, but not c-Jun N-terminal kinases (JNK). The ERK1/2 inhibitor PD98059 significantly inhibited the proliferation of CD4+ and CD8+ T cells in LTD4-stimulated AdMCs. Conclusion: LTD4 regulates the proliferation of CD4+ and CD8+ T cells in PHA-stimulated AdMCs via upregulation of the ERK1/2 pathway. This finding indicates that CysLT1 receptors play a regulatory role in the pathogenesis of OSAS in children. PMID:27830016

  7. Fungi in cystic fibrosis and non-cystic fibrosis bronchiectasis.

    PubMed

    Moss, Richard B

    2015-04-01

    Bronchiectasis is a pathologic bronchial dilatation with loss of function that can result from multiple inflammatory and infectious injuries to the conducting airways of the lung. Molds, particularly the filamentous fungus Aspergillus fumigatus, have been implicated as a common cause of both cystic fibrosis (CF) and non-CF bronchiectasis, the latter primarily in patients with severe asthma. The pathogenesis of mold-associated bronchiectasis is usually due to atopic sensitization to mold allergens in the presence of active chronic endobronchial fungal infection with host innate and adaptive immune deviation to a Th2-dominated inflammation, a condition known as allergic bronchopulmonary aspergillosis (ABPA) (or allergic bronchopulmonary mycosis if a non-Aspergillus mold is implicated). Diagnostic criteria of ABPA continue to evolve, while treatment relies upon downregulation of the allergic inflammatory response with immunomodulatory agents and antifungal pharmacotherapy.

  8. Cystic avascular necrosis of the triquetrum.

    PubMed

    Albtoush, Omar M; Esmadi, Mohammad; Al-Omari, Mamoon H

    2013-01-01

    Carpal bones are rarely affected by avascular necrosis (AVN) in the absence of fractures. The lunate is the most frequently affected carpal bone, followed by the scaphoid and the capitate. The triquetrum is rarely affected by AVN. We report a case of multiple cystic changes in the triquetrum in a patient with a history of trauma. He was treated by below elbow Colles plaster cast for 3 months, with no improvement. Cystic changes resulted from irreversible AVN of the triquetrum. This is the first case to be reported in the literature with cystic AVN changes in the triquetrum.

  9. Cystic Pheochromocytoma Presenting as Adrenal Cyst

    PubMed Central

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

    2016-01-01

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

  10. 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.

  11. Enlarged Adenoids

    MedlinePlus

    ... Birth Control Family HealthInfants and Toddlers Kids and Teens Pregnancy and Childbirth Women Men SeniorsIn The NewsYour Health ... Birth Control Family HealthInfants and Toddlers Kids and Teens Pregnancy and Childbirth Women Men SeniorsIn The NewsYour Health ...

  12. [New tools in cystic fibrosis].

    PubMed

    Dournes, G; De Boeck, K; Bui, S; Vermeulen, F; Ramalho, A; Chateil, J-F; Laurent, F; Fayon, M

    2016-12-01

    The use of 3 novel tools available for the diagnosis and treatment in cystic fibrosis are described here. 1) The lung clearance index is a sensitive method which can detect functional impairment in the first months after birth. 2) Detailed morphological analyses of the lung can be performed with the new MRI sequences, without any contrast medium or risk of radiation. The analysis of functional MRI data (perfusion, diffusion, ventilation, inflammation) will be possible, and these data will be correlated to morphological data. The exploration of other organs such as the sinuses, liver and abdomen during the same examination represents another definite advantage. 3) Organoïds are a good example of personalized medicine. This tool explores CFTR function and treatment response in each of the 2000 or so known CFTR mutations. These tests are limited to specialized centers, mostly within a research context. However, their generalization after standardization is expected in the near future.

  13. Cystic echinococcosis in southern Brazil.

    PubMed

    de la Rue, Mario L

    2008-01-01

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

  14. Cystic cerebellar astrocytomas in childhood.

    PubMed

    Griffin, T W; Beaufait, D; Blasko, J C

    1979-07-01

    Thirty-nine patients with low grade cystic cerebellar astrocytomas were treated at the University of Washington and Children's Orthopedic Hospital in Seattle, Washington, between 1955 and 1977; 29 were treated with partial or complete resection alone, and 10 received radiation therapy after various types of surgical procedures. With a mean follow-up time of 7 years, the survival rate for patients who had complete resections of their primary disease was 100%. The relapse-free survival rate was 82%. The relapse-free survival rate for patients treated primarily with partial resection alone was 36%. Postoperative irradiation after partial resection for both primary and recurrent disease resulted in a relapse-free survival rate of 83%. If complete tumor excision is not possible, postoperative radiation therapy is recommended following partial resection.

  15. 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

  16. Laboratory diagnosis of cystic fibrosis.

    PubMed

    Webster, H L

    1983-01-01

    The demonstration of abnormally high concentrations of electrolytes in eccrine sweat is still the only practical laboratory procedure available for diagnosis of cystic fibrosis. Properly performed, the sweat test is very reliable, but there are many published reports that all of the methods in current use frequently generate incorrect diagnoses. Analysis of potential for error in sweat test methods shows that of the three essential phases involved, stimulation, collection, and analysis, the major cause of intrinsic inaccuracy occurs in the collection process. In this case the problem is due to condensate formation, which leads to the subsequent analysis of nonrepresentative sweat. Human error is also an important cause of false results and is a direct function of the number of critical manual operations involved in the technic. This review provides a critical examination of sweat test methods, identifying problem areas and suggesting ways to improve procedures in the interests of clinically reliable laboratory data in support of diagnosis.

  17. Gastrointestinal manifestations in cystic fibrosis.

    PubMed

    Eggermont, E

    1996-08-01

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

  18. Alcaligenes infection in cystic fibrosis.

    PubMed

    Tan, Kenneth; Conway, Steven P; Brownlee, Keith G; Etherington, Christine; Peckham, Daniel G

    2002-08-01

    The aim of this study was to investigate the effect of chronic Alcaligenes species infection of the respiratory tract on the clinical status of patients with cystic fibrosis. We conducted a retrospective case-controlled study. The microbiological records of all patients attending the Leeds Regional Pediatric and Adult Cystic Fibrosis Units from 1992-1999 were examined. Chronic Alcaligenes infection was defined as a positive sputum culture on at least three occasions over a 6-month period. These patients were compared with controls matched for age, gender, respiratory function, and Pseudomonas aeruginosa infection status. Respiratory function tests, anthropometric data, Shwachman-Kulczycki score, Northern chest x-ray score, intravenous and nebulized antibiotic treatment, and corticosteroid treatment were compared from 2 years before to 2 years after Alcaligenes infection. From a clinic population of 557, 13 (2.3%) fulfilled the criteria for chronic infection. The median age at acquisition of infection was 17.2 years (range, 6.5-33.6). There was no significant difference in the changes of percentage predicted values for FEV(1), FVC, FEF(25-75), or Shwachman-Kulczycki and Northern chest x-ray scores, or in weight, height, and body mass index z-scores between Alcaligenes-infected cases and controls. There was also no significant difference in the use of antibiotics (intravenous and nebulized) or corticosteroids (inhaled and oral). We conclude that in our clinic, chronic infection with Alcaligenes species was uncommon. Chronically infected patients showed no excess deterioration in clinical or pulmonary function status from 2 years before to 2 years after primary acquisition.

  19. 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.

  20. Detection of Respiratory Viruses in Nasopharyngeal Swab and Adenoid Tissue from Children Submitted to Adenoidectomy: Pre- and Postoperative Analysis

    PubMed Central

    Biill Primo, Osvaldo Vinícius; Lourenço, Edmir Américo; Passos, Saulo Duarte

    2014-01-01

    Introduction The presence of respiratory viruses in lymphoid tissues of the nasopharynx and oropharynx and its impact on recurrent infections and hypertrophy of these tissues are not yet fully understood. Objective To identify and determine the prevalence of major respiratory viruses in nasopharyngeal secretions and adenoid tissue pre- and postoperatively of children undergoing adenoidectomy. Methods A prospective observational study was conducted in 36 patients under 12 years of age with upper airway lymphoid hypertrophy who were undergoing adenoidectomy, in which various respiratory viruses were investigated using real-time polymerase chain reaction in adenoid tissue and nasopharyngeal secretions collected preoperatively and 30 days postoperatively. Results At least 1 viral agent was isolated in any of the samples collected in 58.3% of children and 25.9% of total samples. Respiratory viruses were identified in 33.8% of preoperative nasopharyngeal specimens and in 19.8% of postoperative secretion. Of the 21 patients with positive results for any respiratory virus, 6 (28.6%) had more than 1 virus. Considering all 36 respiratory viruses found, the main agent isolated was rhinovirus (27.8%), followed by bocavirus (22.2%). Conclusion The virus found more frequently in all samples was rhinovirus. After removal of adenoid tissue, there was a decrease in the prevalence of the virus contained in nasopharyngeal secretion 30 days after surgery. PMID:25992082

  1. [Cystic fibrosis in a woman aged seventy].

    PubMed

    Ras, Janneke E; van Velzen, Edwin; van Berkhout, Ferdinand Teding; van den Brand, Joop J G

    2010-01-01

    A seventy-year-old woman was admitted to hospital with a Staphylococcus aureus respiratory tract infection. She had a history of extensive bronchiectasis and allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis (CF) was suspected and cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis showed F508del and R117H-7T mutations. In these mutations there is residual activity in the chloride channel in the cell membrane coded by the CFTR gene. This results in a much milder disease pattern varying from no disease at all to isolated organ disease. This type of disease is known as non-classical cystic fibrosis. In our patient the diagnosis of cystic fibrosis was made exceptionally late in life.

  2. Radiological description of cystic pancreatic tumors.

    PubMed

    Rodríguez Torres, C; Larrosa López, R

    2016-01-01

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

  3. Cervical Cystic Hygroma in an Adult

    PubMed Central

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

    2014-01-01

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

  4. [Retrocervical cystic hygroma: about 35 cases].

    PubMed

    Masmoudi, Aida; Neji, Kaled; Kacem, Sémia; Boudhraa, Kaled; Jabnoun, Samy; Chelli, Hella; Reziga, Hédi; Zouari, Faouzia; Khrouf, Naima; Chaabouni, Habiba; Siala, Soumaya

    2002-03-01

    Retrocervical cystic hygroma is a congenital defect associated to chromosomic anomalies. We report a retrospective study about 35 cystic hygroma autopsies colliged in C.M.N.T in 10 years. Antenatal sonography has a sensibility 94.5%. Genetic abnormalities dominated by trisomie 13 Turner syndrome dad found in 11.5%. Medical abortion has done in 48.5%. A multidisciplinary management autorized to understand etiopathogeny of this defect.

  5. Long-Term Radiotherapy Outcomes for Nasal Cavity and Septal Cancers

    SciTech Connect

    Allen, Matthew W.; Schwartz, David L. Rana, Vishal; Adapala, Pranshanth; Morrison, William H.; Hanna, Ehab Y.; Weber, Randal S.; Garden, Adam S.; Ang, K. Kian

    2008-06-01

    Purpose: Carcinoma of the nasal cavity and septum has historically been associated with a poor prognosis. This report updates the long-term outcomes for radiotherapy (RT) of this disease site at University of Texas M.D. Anderson Cancer Center. Methods and Materials: A retrospective analysis was performed on the data from 68 patients diagnosed with histologically proven carcinoma of the nasal cavity or septum treated with RT for curative intent between 1969 and 2000. The disease histologic type was as follows: 45 (66%) had squamous cell carcinoma, 12 (18%) had adenoid cystic carcinoma, 8 (12%) had adenocarcinoma, and 3 (4%) had poorly/undifferentiated carcinoma. Of the 68 patients, 32 (47%) had received definitive RT. Of these, 23 had received external beam RT and 9 brachytherapy. Of the remaining 36 patients, 3 (4%) underwent preoperative external beam RT and 33 (49%) postoperative external beam RT. Of the 68 patients, 13 (19%) received neck RT. The median dose for patients receiving definitive and postoperative RT was 65 and 58.2 Gy, respectively. The median follow-up for the entire cohort was 11 years (range, 2.4-30.1 years). Results: Of the 68 patients, 19 (28%) developed a locoregional relapse, 14 (21%) locally and 5 (7%) regionally. The local control rate at 5 and 10 years was 86% and 76%, respectively. The disease-specific survival rate was 86% and 78%, and the overall survival rate was 82% and 62% at 5 and 10 years, respectively. Conclusion: This extended follow-up of our institutional experience has demonstrated that RT can provide durable long-term locoregional control and survival outcomes for patients with carcinoma of the nasal cavity and septum.

  6. 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.

  7. A canine case with cystic meningioma showing miraculous reduction of the cystic lesion

    PubMed Central

    WADA, Masae; HASEGAWA, Daisuke; HAMAMOTO, Yuji; ASAI, Atsushi; SHOUJI, Akane; CHAMBERS, James; UCHIDA, Kazuyuki; FUJITA, Michio

    2015-01-01

    A 12-year-old spayed female Labrador retriever was presented with forebrain signs. Brain MRI revealed a huge cystic lesion with the thickened falx in the frontal region. The brain parenchyma surrounding the lesion showed significant signs of a mass effect and also increased intracranial pressure. However, the dog suddenly became lucid after about two weeks, and an MRI scan one month after the initial study revealed a dramatically shrunken cystic lesion. The dog survived for over a year until it was euthanized for other reasons, and the brain lesion was diagnosed as a cystic meningioma histologically. To the authors’ knowledge, this is the first report that described the reduction of the cystic lesion of a cystic meningioma in dogs. PMID:26256491

  8. Emerging treatments in cystic fibrosis.

    PubMed

    Jones, Andrew M; Helm, Jennifer M

    2009-10-01

    There are a number of potential drugs for the treatment of cystic fibrosis (CF) currently undergoing clinical studies. A number of antibacterials formulated for delivery by inhalation are at various stages of study; these include dry-powder inhaler versions of colistin, tobramycin and ciprofloxacin, and formulations of azteonam, amikacin, levofloxacin, ciprofloxacin and fosfomycin/tobramycin for nebulization. Clinical trials of anti-inflammatory agents, including glutathione, phosphodiesterase-5 inhibitors such as sildenafil, oral acetylcysteine, simvastatin, methotrexate, docosahexaenoic acid, hydroxychloroquine, pioglitazone and alpha1-antitrypsin, are ongoing. Ion channel modulating agents, such as lancovutide (Moli1901, duramycin) and denufosol, which activate alternate (non-CF transmembrane regulator [CFTR]) chloride channels, and GS 9411, a sodium channel antagonist, are now at the stages of clinical study and if successful, will offer a new category of therapeutic agent for the treatment of CF. Correction of the underlying gene effect, either by agents that help to correct the dysfunctional CFTR, such as ataluren, VX-770 and VX-809, or by gene transfer (gene therapy), is a particularly exciting prospect as a new therapy for CF and clinical studies are ongoing. This article reviews the exciting potential drug treatments for CF currently being evaluated in clinical studies, and also highlights some of the challenges faced by research and clinical teams in assessing the efficacy of potential new therapies for CF.

  9. [Azithromycin therapy in cystic fibrosis].

    PubMed

    Máiz Carro, Luis; Cantón Moreno, Rafael

    2004-03-06

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

  10. 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)

  11. 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.

  12. Cystic duct carcinoma mimicking a middle bile duct tumour

    PubMed Central

    Francisco, Elsa; Mendes, Miguel; Vale, Sílvio; Esteves, Joana

    2015-01-01

    Cystic duct carcinoma was defined by Farrar as a tumour restricted to the cystic duct, making it a rare disease. The authors describe a case of a cystic duct carcinoma that fulfils Farrar’s strict diagnostic criteria and that became clinically relevant by compressing the common hepatic duct, thus causing cholestasis. A cholecystectomy was performed with en bloc resection of the cystic and extrahepatic bile duct with a regional lymphadenectomy. PMID:25819819

  13. 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. PMID:27418876

  14. [Cystic fibrosis in a 70-year-old woman].

    PubMed

    Bruun, Lene Søndberg; Jensen, Michael Skov

    2002-05-06

    Cystic fibrosis is usually diagnosed in early childhood, and patients rarely live beyond the age of 40. We present a case of a 70-year-old woman, in whom cystic fibrosis was diagnosed with the rare mutation, R117C. Cystic fibrosis should therefore also be considered in older patients.

  15. 78 FR 26681 - Medical Criteria for Evaluating Cystic Fibrosis

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-07

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

  16. 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;…

  17. [Cystic lesions--diagnosis and conservative treatment].

    PubMed

    Olas, Jacek; Bucka, Jolanta; Dworak, Agata; Golański, Bartłomiej

    2003-01-01

    Effective treatment of cystic lesions that we can apply in the outpatient clinic is the target for seeking a new solution in finding treatment that will produce a better percentage of recovered patients. At this moment non-surgical treatment of cystic lesions is compare with traditional methods of treatment i.e. cyst content aspiration and injection of steroids, with methods which lead to obliteration of cyst lumen and in this way closing the space being the reservoir for the cyst content. Local application of hialuronidase, aspiration, and then steroid injection is gaining more and more attention of clinicians. We also pay much more attention to local fibrinogen injection as a safe and effective method of treatment, which can be useful in the treatment of cystic lesions and topical treatment of bursitis.

  18. Florid cystic endosalpingiosis of the uterus

    PubMed Central

    Heatley, M; Russell, P

    2001-01-01

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

  19. A rare case of bilateral cystic partially differentiated nephroblastoma recurring as bilateral cystic Wilms tumour.

    PubMed

    Kurian, Jujju Jacob; Ninan, Pradeep Joseph

    2015-04-15

    Childhood cystic partially differentiated nephroblastoma (CPDN) is an uncommon renal neoplasm. Bilateral CPDN or CPDN co-existing with a cystic nephroma/Wilms tumour is extremely rare. Treatment of CPDN is by complete surgical excision. Although local recurrences are uncommon, distant metastases have not been described. We present a case of bilateral CPDN that, after complete excision, recurred as bilateral cystic Wilms tumour. To the best of our knowledge, this is the first reported case in the literature where a bilateral CPDN has recurred as bilateral Wilms tumour.

  20. Venous thromboembolism in cystic fibrosis.

    PubMed

    Takemoto, Clifford M

    2012-02-01

    The incidence of venous thromboembolism (VTE) is increasing in the pediatric population. Individuals with cystic fibrosis (CF) have an increased risk of thrombosis due to central venous catheters (CVCs), as well as acquired thrombophilia secondary to inflammation, or deficiencies of anticoagulant proteins due to vitamin K deficiency and/or liver dysfunction. CVC-associated thrombosis commonly results in line occlusion, but may develop into serious life-threatening conditions such as deep venous thrombosis (DVT), superior vena cava syndrome or pulmonary embolism (PE). Post-thrombotic syndrome (PTS) may be a long complication. Local occlusion of the catheter tip may be managed with instillation of thrombolytics (such as tPA) within the lumen of the catheter; however, CVC-associated thrombosis involving the proximal veins is most often is treated with systemic anticoagulation. Initial treatment with heparin is a standard approach, but thrombolytic therapy, which may carry higher bleeding risks, should be considered for life and limb threatening episodes of VTE. Recommended duration of anticoagulation with low molecular weight heparin (LMWH) or warfarin ranges from 3 to 6 months for major removable thrombotic risks; longer anticoagulation is considered for recurrent thrombosis, major persistent thrombophilia, or the continued presence of a major risk factor such as a CVC. While CVCs are the most common risk for development of VTE in children, studies have not demonstrated a clear benefit with routine use of systemic thromboprophylaxis. The incidence and risk factors of VTE in CF patients will be reviewed and principles of diagnosis and management will be summarized.

  1. Cystic angiomatosis, a heterogeneous condition

    PubMed Central

    Najm, Aurélie; Soltner-Neel, Elise; Le Goff, Benoît; Guillot, Pascale; Maugars, Yves; Berthelot, Jean-Marie

    2016-01-01

    Abstract Background: Cystic angiomatosis (CA) is a rare disorder causing bony cysts. It displays some similarity to Gorham–Stout disease (GSD), but has a much better local prognosis, despite the larger number of cysts. These 2 conditions also differ in terms of their location, visceral involvement, and response to treatment. Methods: We report 4 cases of CA, including 1 sclerosing form, which we compare with cases from a literature review performed with PRISMA methodology. Results: We reviewed 38 articles describing 44 other patients. Mean age at diagnosis for the 48 patients (our 4 patients + the 44 from the review) was 22.5 years, and 28 of the patients were men. The femur was involved in 81% (n = 39), the pelvis in 73% (n = 35), the humerus in 52% (n = 25), the skull in 48% (n = 23), and the vertebrae in 44% (n = 21). Visceral lymphangiomatosis (either clinical, or detected on autopsy) was also reported in 35% (n = 18) of the patients. The spleen was the most frequently involved organ (n = 12), followed by the lungs and pleura (n = 8). Liver cysts and/or chylothorax were rarely reported (5 cases), but were invariably fatal. Radiation therapy on bone or soft tissue masses was ineffective, as was interferon alpha, in the 2 patients in which this drug was tested. The efficacy of bisphosphonate was at best equivocal. Conclusion: The progression of CA is unpredictable and treatments effective against GSD, such as bisphosphonates and radiotherapy, have proved ineffective for this condition. New treatments are thus urgently required. PMID:27787381

  2. Cystic echinococcosis in Southern Israel.

    PubMed

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

    2016-01-01

    The aim of this retrospective, population-based study was to characterize demographically and clinically cystic-echinococcosis (CE) in southern Israel, between 2005 and 2012. Newly-diagnosed (nd-CE) and past-diagnosed (pd-CE, diagnosed before the study) cases were defined. Two populations live in southern-Israel, receiving medical treatment at a single hospital: the Jewish and the Bedouin populations (resembling resource-rich and resource-poor populations, respectively). 126 CE cases were identified; 55 nd-CE and 71 pd-CE. Mean annual nd-CE incidence per 100,000 in the Bedouin and Jewish populations were 2.7 ± 1.2 and 0.4 ± 0.3, respectively (P<0.001). None of the Bedouin and 86.5% of the Jewish patients were born outside Israel. Liver and lung involvement were recorded in 85.7% and 15.1% of overall-CE, respectively. Abdominal pain, cough, fever, eosinophilia and asymptomatic disease were documented in 63.6%, 32.7%, 27.3%, 41.5% and 12.7% of nd-CE, respectively. Serology sensitivity for first test and any positive test were 67.3% and 83.3%, respectively. Computed tomography, ultrasonography and X-ray diagnosis were documented in 79.2%, 58.4% and 17.0% of overall-CE, respectively, with ultrasonography mainly used in liver-CE and X-ray in lung-CE. Treatment included surgery and albendazole in 50.0% and 55.3% of CE, respectively. We conclude that CE is endemic in southern-Israel among the Bedouin population, while disease is probably mainly imported in the Jewish population. Liver involvement and eosinophilia rates were high compared with those of other endemic regions, possibly due to differences in the timing of diagnosis. These findings may help developing treatment and prevention strategies.

  3. Identification of intracellular bacteria in adenoid and tonsil tissue specimens: the efficiency of culture versus fluorescent in situ hybridization (FISH).

    PubMed

    Stępińska, M; Olszewska-Sosińska, O; Lau-Dworak, M; Zielnik-Jurkiewicz, B; Trafny, E A

    2014-01-01

    Monocyte/macrophage cells from human nasopharyngeal lymphoid tissue can be a source of bacteria responsible for human chronic and recurrent upper respiratory tract infection. Detection and characterization of pathogens surviving intracellularly could be a key element in bacteriological diagnosis of the infections as well as in the study on interactions between bacteria and their host. The present study was undertaken to assess the possibility of isolation of viable bacteria from the cells expressing monocyte/macrophage marker CD14 in nasopharyngeal lymphoid tissue. Overall, 74 adenotonsillectomy specimens (adenoids and tonsils) from 37 children with adenoid hypertrophy and recurrent infections as well as 15 specimens from nine children with adenoid hypertrophy, which do not suffer from upper respiratory tract infections (the control group), were studied. The suitability of immunomagnetic separation for extraction of CD14(+) cells from lymphoid tissue and for further isolation of the intracellular pathogens has been shown. The coexistence of living pathogens including Haemophilus influenzae, Staphylococcus aureus, and Streptococcus pyogenes with the bacteria representing normal nasopharyngeal microbiota inside CD14(+) cells was demonstrated. Twenty-four strains of these pathogens from 32.4 % of the lysates of CD14(+) cells were isolated. Concurrently, the fluorescent in situ hybridization (FISH) with a universal EUB388, and the species-specific probes demonstrated twice more often the persistence of these bacterial species in the lysates of CD14(+) cells than conventional culture. Although the FISH technique appears to be more sensitive than traditional culture in the intracellular bacteria identification, the doubts on whether the bacteria are alive, and therefore, pathogenic would still exist without the strain cultivation.

  4. Management Issues for Adolescents with Cystic Fibrosis

    PubMed Central

    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

  5. 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.

  6. 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.

  7. Cardiac lymphangioma presenting as intrapericardial cystic mass.

    PubMed

    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.

  8. The Cystic Fibrosis of Exocrine Pancreas

    PubMed Central

    Wilschanski, Michael

    2013-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) protein is highly expressed in the pancreatic duct epithelia, and permits anions and water to enter the ductal lumen. This results in an increased volume of alkaline fluid allowing the highly concentrated proteins secreted by the acinar cells to remain in a soluble state. This work will expound on the pathophysiology and pathology caused by the malfunctioning CFTR protein with special reference to ion transport and acid-base abnormalities both in humans and animal models. We will also discuss the relationship between cystic fibrosis (CF) and pancreatitis, and outline present and potential therapeutic approaches in CF treatment relevant to the pancreas. PMID:23637307

  9. Precision genomic medicine in cystic fibrosis

    PubMed Central

    Chang, Eugene H.; Zabner, Joseph

    2015-01-01

    The successful application of precision genomic medicine requires an understanding of how a person’s genome can influence their 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

  10. Cystic hypersecretory ductal carcinoma of the breast: a rare cause of cystic breast mass.

    PubMed

    Song, Sun Wha; Whang, In Yong; Chang, Eun Deok

    2011-11-01

    We present the case of a surgically confirmed, invasive, cystic hypersecretory ductal carcinoma (CHDC) of the breast in a 43-year-old woman. The initial sonography showed a complex cyst, which required a core biopsy; however, the diagnosis was delayed as the patient refused to undergo the biopsy and the cyst decreased in size, as seen on follow-up sonography. Excision biopsy was performed, and invasive CHDC was diagnosed after regrowth of the cystic lesion. Meticulous sonographic evaluation of a cystic breast mass is always important, and pathology confirmation must be considered if the lesion shows features suspicious for malignancy, as a CHDC could be the cause of a cystic breast mass.

  11. 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

  12. 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.

  13. 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...

  14. 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...

  15. Ivacaftor for patients with cystic fibrosis.

    PubMed

    Wainwright, Claire E

    2014-10-01

    Ivacaftor is an oral bioavailable potentiator of the cystic fibrosis transmembrane conductance regulator protein. It is the first therapeutic agent that has been registered for clinical use which targets the basic defect in people with cystic fibrosis who carry a G551D mutation or other rarer specific gating mutations. Clinical trials have shown consistent and impressive clinical benefit that appears to be sustained over time in people with cystic fibrosis who carry a G551D mutation and similar benefits have been seen in those who carry rarer gating mutations. Ivacaftor is orally administered twice daily with a dose that does not vary between children aged 6 years through to adult life in patients with G551D. It appears to be well tolerated although there are potential interactions with drugs that are metabolised through CYPP450 CYP3A. Ivacaftor is also currently being trialled in combination with correctors for patients with the most common mutation of cystic fibrosis transmembrane conductance regulator the F508del mutation.

  16. Exercise is medicine in cystic fibrosis.

    PubMed

    Wheatley, Courtney M; Wilkins, Brad W; Snyder, Eric M

    2011-07-01

    Exercise activates adrenergic and purinergic pathways that regulate activity of ion channels on airway epithelia cells and sweat glands. Therefore, we hypothesize that exercise is not only an important therapy for cystic fibrosis (CF) patients by facilitating systemic improvements but, more importantly, that exercise can improve the pathophysiological ion dysregulation at a cellular level, thereby enhancing quality of life in CF.

  17. [New prospects in cystic fibrosis treatment].

    PubMed

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

    1997-04-01

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

  18. Combination of mometasone furoate and oxymetazoline for the treatment of adenoid hypertrophy concomitant with allergic rhinitis: A randomized controlled trial

    PubMed Central

    Liu, Wenlong; Zhou, Lifeng; Zeng, Qingxiang; Luo, Renzhong

    2017-01-01

    In the clinic, approximately 30% of children with adenoid hypertrophy (AH) concomitant with allergic rhinitis (AR) report poor responses to intranasal steroids. To determine whether the combination of mometasone furoate (MF) and oxymetazoline (OXY) is more effective than either agent alone, we performed a two-stage, parallel, randomized, double-blind, double-dummy, clinical trial with 240 AH children with concomitant perennial AR. During the first stage, all children were randomly assigned to the MF or control group for six weeks of treatment. During the second stage, the non-responders from stage one were randomly assigned to 4 groups for 8 weeks of treatment that involved receiving the following treatments: MF/OXY, MF/placebo, placebo/OXY, or placebo/placebo. During the first stage of treatment, 39% of the responders treated with MF achieved greater reductions in total and individual symptom scores than did those on placebo. During the second stage of treatment, the nasal congestion scores of the MF/OXY group significantly decreased. The adenoid/choana ratio of the MF/OXY-treated group decreased and the nasal volume increased significantly. Our results suggest that the combination of OXY and MF is effective and safe for the treatment of AH children with concomitant AR and has a rapid onset of action. PMID:28098165

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

    ClinicalTrials.gov

    2017-01-26

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

  20. 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

  1. 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.

  2. Diabetes mellitus and bone disease in cystic fibrosis.

    PubMed

    Curran, David R; McArdle, John R; Talwalkar, Jaideep S

    2009-10-01

    Patients with cystic fibrosis are frequently affected with pancreatic insufficiency and are predisposed to the development of diabetes mellitus (DM) and bone demineralization. Cystic fibrosis-related diabetes mellitus is a clinical entity distinct from type 1 and type 2 diabetes, with important implications for the nutritional and pulmonary health of cystic fibrosis patients. This form of diabetes owes largely to insulin deficiency, but alterations in insulin sensitivity and hepatic glucose production have also been described. Therapy for cystic fibrosis-related diabetes differs substantially from type 2 DM, with careful attention to prandial glycemic excursions crucial to controlling its metabolic effects. Bone disease, including osteopenia and osteoporosis, also occurs with increased frequency in cystic fibrosis, owing to defects in intestinal absorption, chronic inflammation, lung disease, low body weight, and gonadal dysfunction. The pathogenesis, implications, diagnosis, and therapy of cystic fibrosis-related bone demineralization are discussed, with attention to recommended approaches to prevention of and treatment of established bone disease.

  3. 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.

  4. Cystic fibrosis and physiological responses to exercise.

    PubMed

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

    2014-12-01

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

  5. Cystic fibrosis lung disease in adult patients.

    PubMed

    Vender, Robert L

    2008-04-01

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

  6. 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.

  7. Congenital cystic eye with optic nerve.

    PubMed

    Holland, Lee; Haridas, Anjana; Phillips, Gael; Sullivan, Timothy

    2015-07-15

    Congenital cystic eye (CCE) is a rare condition caused by failure of invagination of the optic vesicle resulting in a persistent cyst replacing the eye. An associated optic nerve attached to the cyst is a rarely reported phenomenon that has been sparsely described histologically, with no immunohistochemistry reported previously. The authors present a case of CCE with optic nerve tissue inserting into the cyst, and present the histological and immunohistochemical findings.

  8. Case report: a left upper quadrant complex cystic mass.

    PubMed

    Choi, Lydia; Mirani, Neena; Kim, Steve H

    2012-01-01

    A 61-year-old woman presented with left upper quadrant/flank pain and increasing abdominal girth. CT scan showed a large complex, multi-cystic lesion in the left abdomen. Laparotomy revealed a large retroperitoneal mass attached to the left kidney. Left nephrectomy was performed and pathology demonstrated a benign cystic nephroma. Surgical oncologists should be aware of this rare renal lesion as the clinical and radiographic presentation may mimic other intra-abdominal cystic lesions.

  9. Use of the Cystic Fibrosis Foundation's extensive sputum-culturing protocol for patients without cystic fibrosis: implications for infection control and antimicrobial resistance.

    PubMed

    Brown, Jennifer

    2014-05-01

    The US Cystic Fibrosis Foundation has guidelines for culturing respiratory tract specimens from patients with cystic fibrosis. Pulmonary physicians were surveyed regarding their use of these extensive cystic fibrosis culture protocols for patients without cystic fibrosis. The survey results and a discussion of the implications of these practices are reported.

  10. [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.

  11. Lung disease in mice with cystic fibrosis.

    PubMed Central

    Kent, G; Iles, R; Bear, C E; Huan, L J; Griesenbach, U; McKerlie, C; Frndova, H; Ackerley, C; Gosselin, D; Radzioch, D; O'Brodovich, H; Tsui, L C; Buchwald, M; Tanswell, A K

    1997-01-01

    The leading cause of mortality and morbidity in humans with cystic fibrosis is lung disease. Advances in our understanding of the pathogenesis of the lung disease of cystic fibrosis, as well as development of innovative therapeutic interventions, have been compromised by the lack of a natural animal model. The utility of the CFTR-knockout mouse in studying the pathogenesis of cystic fibrosis has been limited because of their failure, despite the presence of severe intestinal disease, to develop lung disease. Herein, we describe the phenotype of an inbred congenic strain of CFTR-knockout mouse that develops spontaneous and progressive lung disease of early onset. The major features of the lung disease include failure of effective mucociliary transport, postbronchiolar over inflation of alveoli and parenchymal interstitial thickening, with evidence of fibrosis and inflammatory cell recruitment. We speculate that the basis for development of lung disease in the congenic CFTR-knockout mice is their observed lack of a non-CFTR chloride channel normally found in CFTR-knockout mice of mixed genetic background. PMID:9399953

  12. Mycobacterium abscessus and Children with Cystic Fibrosis

    PubMed Central

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

    2003-01-01

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

  13. Cystic fibrosis: a mucosal immunodeficiency syndrome

    PubMed Central

    Cohen, Taylor Sitarik; Prince, Alice

    2013-01-01

    Cystic fibrosis transmembrane conductance regulator (CFTR) functions as a channel that regulates the transport of ions and the movement of water across the epithelial barrier. Mutations in CFTR, which form the basis for the clinical manifestations of cystic fibrosis, affect the epithelial innate immune function in the lung, resulting in exaggerated and ineffective airway inflammation that fails to eradicate pulmonary pathogens. Compounding the effects of excessive neutrophil recruitment, the mutant CFTR channel does not transport antioxidants to counteract neutrophil-associated oxidative stress. Whereas mutant CFTR expression in leukocytes outside of the lung does not markedly impair their function, the expected regulation of inflammation in the airways is clearly deficient in cystic fibrosis. The resulting bacterial infections, which are caused by organisms that have substantial genetic and metabolic flexibility, can resist multiple classes of antibiotics and evade phagocytic clearance. The development of animal models that approximate the human pulmonary phenotypes—airway inflammation and spontaneous infection—may provide the much-needed tools to establish how CFTR regulates mucosal immunity and to test directly the effect of pharmacologic potentiation and correction of mutant CFTR function on bacterial clearance. PMID:22481418

  14. 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.

  15. Nasopharyngeal and Adenoid Colonization by Haemophilus influenzae and Haemophilus parainfluenzae in Children Undergoing Adenoidectomy and the Ability of Bacterial Isolates to Biofilm Production.

    PubMed

    Kosikowska, Urszula; Korona-Głowniak, Izabela; Niedzielski, Artur; Malm, Anna

    2015-05-01

    Haemophili are pathogenic or opportunistic bacteria often colonizing the upper respiratory tract mucosa. The prevalence of Haemophilus influenzae (with serotypes distribution), and H. parainfluenzae in the nasopharynx and/or the adenoid core in children with recurrent pharyngotonsillitis undergoing adenoidectomy was assessed. Haemophili isolates were investigated for their ability to biofilm production.Nasopharyngeal swabs and the adenoid core were collected from 164 children who underwent adenoidectomy (2-5 years old). Bacteria were identified by the standard methods. Serotyping of H. influenzae was performed using polyclonal and monoclonal antisera. Biofilm formation was detected spectrophotometrically using 96-well microplates and 0.1% crystal violet.Ninety seven percent (159/164) children who underwent adenoidectomy were colonized by Haemophilus spp. The adenoid core was colonized in 99.4% (158/159) children, whereas the nasopharynx in 47.2% (75/159) children (P < 0.0001). In 32% (51/159) children only encapsulated (typeable) isolates of H. influenzae were identified, in 22.6% (36/159) children only (nonencapsulated) H. influenzae NTHi (nonencapsulated) isolates were present, whereas 7.5% (12/159) children were colonized by both types. 14.5% (23/159) children were colonized by untypeable (rough) H. influenzae. In 22% (35/159) children H. influenzae serotype d was isolated. Totally, 192 isolates of H. influenzae, 96 isolates of H. parainfluenzae and 14 isolates of other Haemophilus spp. were selected. In 20.1% (32/159) children 2 or 3 phenotypically different isolates of the same species (H. influenzae or H. parainfluenzae) or serotypes (H. influenzae) were identified in 1 child. 67.2% (129/192) isolates of H. influenzae, 56.3% (54/96) isolates of H. parainfluenzae and 85.7% (12/14) isolates of other Haemophilus spp. were positive for biofilm production. Statistically significant differences (P = 0.0029) among H. parainfluenzae biofilm producers and

  16. Cystic degeneration of neuro endocrine tumor of pancreas and Crohn's disease: true or coincidental association?

    PubMed

    Hedfi, Mohamed; Abbasi, Imed; Intissar, Chibani; Salwa, Ammar; Chouchen, Adnen

    2016-01-01

    Pancreatic endocrine tumors (PETs) or islet cell tumors are rare lesions, the incidence of which is estimated to be less than 1 per 100,000 person-years in the general population. PETs can be divided into functional (exhibit a distinct clinical syndrome due to hormone hypersecretion) and non-functional tumors. The majority of PETs are non-functional. In spite of their rarity, cystic neoplasms of the pancreas are characterized by existing or potential malignancy that cannot be ignored during decisive process with regard to the choice of treatment. The purpose of this workis to find an association with Crohn's disease and cystic degeneration of a neuroendocrine tumor of the pancreas. Crohn's disease may affect extraintestinal organs, including the pancreas. In such cases, It seems certain that many patients diagnosed with Crohn disease (CD) are predisposed to a wider spectrum of cancers. We present a case of pancreatic cyst with no typical features of pseudocyst in the medical interview, with history of Crohn's disease, treated by caudal pancreatectomy. We tried to evaluate the clinical and morphological features of so-called cystic neoplasms associated with inflammatory bowel disease and to define their pathological characteristics.

  17. [Pancreatic cancer linked to life style and genome].

    PubMed

    Sand, Juhani; Räty, Sari; Nordback, Isto

    2009-01-01

    Since the prognosis of pancreatic cancer is poor in spite of surgical and drug therapy, the focus should be on the prevention and early detection of the disease. In Europe, smoking accounts for up to 30% of pancreatic cancers, and heavy drinking increases the risk of chronic pancreatitis and pancreatic cancer. Diabetes can be a risk factor for pancreatic cancer and constitute its initial symptom. Obesity and low physical activity are linked to the risk of pancreatic cancer. An increased risk of pancreatic cancer is also associated with a hereditary inflammation, cystic fibrosis, and with part of cystic tumors of the pancreas.

  18. Cadherin-12 contributes to tumorigenicity in colorectal cancer by promoting migration, invasion, adhersion and angiogenesis

    PubMed Central

    2013-01-01

    Background Cadherin 12 (CDH12), which encodes a type II classical cadherin from the cadherin superfamily, may mediate calcium-dependent cell adhesion. It has been demonstrated that CDH12 could play an important role in the invasion and metastasis of salivary adenoid cystic carcinoma. We decided to investigate the relationship between CDH12 expression level and clinicopathologic variables in colorectal carcinoma (CRC) patients and to explore the functions of CDH12 in tumorigenesis in CRC. Methods The expression levels of CDH12 in colorectal carcinoma tissues were detected by immunohistochemistry. Real-time PCR and Western Blot were used to screen CDH12 high-expression cell lines. CCK-8 assay was used to detect the proliferation ability of CRC cells being transfected by shRNAs against CDH12. The wound assay and transwell assay were performed to test migration and invasion ability. The importance of CDH12 in cell-cell junctions was detected by cell adhesion assay and cell aggregation assay. Endothelial tube formation assay was used to test the influence of CDH12 on angiogenesis. Results Statistical analysis of clinical cases revealed that the positive rate of CDH12 was higher in the CRC tumor tissues compared with the adjacent non-tumor tissues. The expression levels of CDH12 in CRC patients are significantly correlated with invasion depth. Consistently, the ability of proliferation, migration and invasion were suppressed when CDH12 was decreased in CRC cells transfected with shRNAs. Cell adhesion assay and cell aggregation assay presented that tumor cells tend to disperse with the lack of CDH12. Endothelial tube formation assay showed that down-regulation of CDH12 could obviously inhibit the process of angiogenesis, implying that CDH12 may play an important role in tumor metastasis Conclusion Our results showed that CDH12 promotes proliferation, migration, invasion, adhesion and angiogenesis, suggesting that CDH12 may be an oncogene in colorectal cancer. CDH12 is

  19. 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

  20. Cystic adventitial disease of popliteal artery with significant stenosis

    PubMed Central

    Gupta, Ranjana; Mittal, Puneet; Gupta, Praveen; Jindal, Nancy

    2013-01-01

    Cystic adventitial disease of popliteal artery is a rare condition of unknown etiology which usually presents in middle-aged men. We present Doppler and computed tomography angiography findings in a case of cystic adventitial disease with significant obstruction of popliteal artery, with secondary narrowing of popliteal vein. PMID:24082480

  1. Cystic Hygroma in an Adult; a Case Report

    PubMed Central

    Veeraraghavan, G; Denny, C; Lingappa, A

    2009-01-01

    Lymphangioma is a benign infiltrative malformation of the lymphatic channels. Cystic lymphangioma or cystic hygroma is a subtype of lymphangioma which exhibits large macroscopic cystic space histologically. The cause of cystic hygroma is believed to be developmental defect or primary Multilocular cystic malformation of dilated lymphatic channels. Cystic hygroma is a common and distinct entity that is not manifested in the oral cavity but occurs in the neck as a large, deep diffuse swelling. They are usually found in the posterior triangle of the neck. They often cross the midline, reaching axilla and mediastinum. Such localization verifies the complexity and extent of the lymphatic system in the cervical region when compared to other regions of the body. The five main locations where cystic hygroma can occur are, cervical (75–90%), axillary (20%), inguinal, retroperitoneal and thoracic. They usually appear as solitary lesions. They are usually infiltrative, often separating fascial planes and incorporating nerves, muscles, and blood vessels. They are fluctuant, freely mobile, compressible, painless and transilluminate well. The skin overlying the lesion is normal and usually there is no associated lymphadenopathy. Various treatment modalities have been tried. Surgery has been the main form of treatment, but total removal is not possible in all cases because of the extent of the lesion, which sometimes involves vital structures. We report a case of cystic hygroma in a young male patient. PMID:21483540

  2. Cystic fibrosis therapeutics: the road ahead.

    PubMed

    Hoffman, Lucas R; 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.

  3. Mesenteric lymphangioma mimicking a cystic ovarian mass on imaging.

    PubMed

    Hitzerd, Emilie; van Hamont, Dennis; Pijnenborg, Johanna M A

    2016-02-01

    Pelvic cystic masses are frequently observed in women. Most lesions are benign and of ovarian origin. However, non-ovarian lesions can be easily confused with cystic ovarian masses on imaging, which hampers diagnostic and therapeutic management. In this report, a rare case of mesenteric lymphangioma mimicking an ovarian cystic mass, discovered as an incidental finding on orthopaedic MRI in an adult female, is presented. The report highlights the sometimes difficult diagnostic process of pelvic cystic masses, due to an extensive differential diagnosis and the fact that imaging is often inconclusive. Even though most cystic masses are of ovarian origin, non-ovarian causes can mimic ovarian masses and should be considered as differential diagnoses. Surgical exploration may be necessary to exclude malignant causes.

  4. 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.

  5. [New therapeutic developments in cystic fibrosis].

    PubMed

    Bui, S; Macey, J; Fayon, M; Bihouée, T; Burgel, P-R; Colomb, V; Corvol, H; Durieu, I; Hubert, D; Marguet, C; Mas, E; Munck, A; Murris-Espin, M; Reix, P; Sermet-Gaudelus, I

    2016-12-01

    Since the discovery of chloride secretion by the Cystic Fibrosis Transport regulator CFTR in 1983, and CFTR gene in 1989, knowledge about CFTR synthesis, maturation, intracellular transfer and function has dramatically expanded. These discoveries have led to the distribution of CF mutations into 6 classes with different pathophysiological mechanisms. In this article we will explore the state of art on CFTR synthesis and its chloride secretion function. We will then explore the consequences of the 6 classes of mutations on CFTR protein function and we will describe the new therapeutic developments aiming at correcting these defects.

  6. Vaccine strategies against cystic fibrosis pathogens

    PubMed Central

    Le Moigne, Vincent; Gaillard, Jean-Louis; Herrmann, Jean-Louis

    2016-01-01

    ABSTRACT 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

  7. Genetic therapies for cystic fibrosis lung disease.

    PubMed

    Sinn, Patrick L; Anthony, Reshma M; McCray, Paul B

    2011-04-15

    The aim of gene therapy for cystic fibrosis (CF) lung disease is to efficiently and safely express the CF transmembrane conductance regulator (CFTR) in the appropriate pulmonary cell types. Although CF patients experience multi-organ disease, the chronic bacterial lung infections and associated inflammation are the primary cause of shortened life expectancy. Gene transfer-based therapeutic approaches are feasible, in part, because the airway epithelium is directly accessible by aerosol delivery or instillation. Improvements in standard delivery vectors and the development of novel vectors, as well as emerging technologies and new animal models, are propelling exciting new research forward. Here, we review recent developments that are advancing this field of investigation.

  8. Influenza immunization in children with cystic fibrosis.

    PubMed

    Adlard, P; Bryett, K

    1987-01-01

    Nineteen children with cystic fibrosis and aged between 5 and 13 years were randomized to receive two doses at monthly intervals of either a split-virion influenza vaccine (MFV-Ject, Institut Merieux) or a sub-unit vaccine (Fluvirin, Evans). In those completing the study, there was a satisfactory serological response. There was no statistically significant difference between the immunogenicity of the two vaccines as evaluated by haemagglutination inhibition or single radial haemolysis tests. The incidence of local side-effects was similar in the two groups.

  9. Vitamin D Deficiency in Cystic Fibrosis

    PubMed Central

    Hall, William B.; Sparks, Amy A.; Aris, Robert M.

    2010-01-01

    Cystic Fibrosis is the most common inherited genetic respiratory disorder in the Western World. Hypovitaminosis D is almost universal in CF patients, likely due to a combination of inadequate absorption, impaired metabolism, and lack of sun exposure. Inadequate levels are associated with the high prevalence of bone disease or osteoporosis in CF patients, which is associated with increased morbidity including fractures, kyphosis, and worsening pulmonary status. Treatment goals include regular monitoring 25 hydroxyvitamin D (25OHD) levels with aggressive treatment for those with levels <75 nmol/L (<30 ng/mL). More research is needed to determine optimal supplementation goals and strategies. PMID:20148079

  10. Cystic fibrosis-associated liver disease.

    PubMed

    Herrmann, Ulrike; Dockter, Gerd; Lammert, Frank

    2010-10-01

    Liver disease is increasingly common in cystic fibrosis (CF). As new therapeutic options emerge, life expectancy increases and common hepatobiliary manifestations impact on quality of life and survival of CF patients. Hepatobiliary abnormalities in CF vary in nature and range from defects attributable to the underlying CFTR gene defect to those related to systemic disease and malnutrition. Today complications of liver disease represent the third most frequent cause of disease-related death in patients with CF. Here we review molecular and clinical genetics of CF, including genetic modifiers of CF-associated liver disease, and provide practical recommendations for genetic testing, diagnosis and treatment of hepatobiliary manifestations in CF.

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

    PubMed

    Olveira, Gabriel; Olveira, Casilda

    2008-05-01

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

  12. Eating disorders in patients with cystic fibrosis.

    PubMed

    Raymond, N C; Chang, P N; Crow, S J; Mitchell, J E; Dieperink, B S; Beck, M M; Crosby, R D; Clawson, C C; Warwick, W J

    2000-06-01

    This study was designed to examine rates of eating disorders and psychopathology in patients with cystic fibrosis (CF). Fifty-eight CF patients and 43 healthy control participants were evaluated using structured psychiatric interviews and rating scales. Two control participants and no CF patients were diagnosed with an eating disorder. Additionally, 11 CF patients were diagnosed with one or more psychiatric disorders. Group means on the rating scales did not show clinically meaningful elevations in either group. These data indicate no evidence for elevated rates of eating disorders in CF patients. Similarly, rates of other psychiatric disorders in the CF group were not greater than the prevalence reported in the general population.

  13. 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

  14. 18F-FDG PET/CT Brain Imaging on a Patient With Paraneoplastic Opsoclonus-Myoclonus Syndrome Arising out of a Mature Cystic Teratoma.

    PubMed

    Na, Chang Ju; Jeong, Young Jin; Lim, Seok Tae; Sohn, Myung-Hee; Jeong, Hwan-Jeong

    2016-02-01

    Opsoclonus-myoclonus syndrome (OMS) is an involuntary multidirectional eye movement accompanied by myoclonic jerks and a subtype of paraneoplastic neurological syndromes. Clinical features of OMS include opsoclonus with myoclonic jerks and cerebellar ataxia. Although there have been a few studies on brain FDG PET in paraneoplastic neurological syndrome associated with some kinds of malignancies such as lung and gastric cancer, brain FDG PET of patients with OMS caused by a mature cystic teratoma has not been reported. Here, we described a case of brain FDG PET/CT studies performed in a woman with OMS provoked from a mature cystic teratoma.

  15. 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

  16. Mutations of the KIT gene and loss of heterozygosity of the PTEN region in a primary malignant melanoma arising from a mature cystic teratoma of the ovary.

    PubMed

    Tate, Genshu; Tajiri, Takuma; Suzuki, Takao; Mitsuya, Toshiyuki

    2009-04-01

    A tumor suppressor gene at 10q23.3, designated PTEN, encoding a dual-specificity phosphatase with lipid and protein phosphatase activity, has been shown to play a pivotal role in the pathogenesis of a variety of human cancers. A frequent loss of heterozygosity (LOH) at 10q is found in melanoma; however, little is known about the role of PTEN in the pathogenesis of a primary malignant melanoma derived from ovarian mature cystic teratoma, which is an extremely rare melanoma. This study examined the genetic alterations involved in the mitogen-activated protein kinase and phosphatidylinositol 3 kinase pathways in an ovarian malignant melanoma. A LOH analysis revealed hemizygous deletion around and in the PTEN gene not only in the ovarian melanoma but also in a mature cystic teratoma. Another case of ovarian mature cystic teratomas in the absence of melanoma also showed allelic loss of the PTEN region. To date, mutations of BRAF, NRAS, and KIT genes have been reported in malignant melanomas. In the present study, D816H and K558E mutations of the KIT gene were revealed in the melanoma arising from a mature cystic teratoma, but not in a mature cystic teratoma. No mutations of the BRAF and NRAS genes were found in the melanoma. These results indicate that LOH of the PTEN region is one of the molecular alterations of an ovarian mature cystic teratoma and a KIT mutation is an additional promotional event associated with the oncogenesis of a melanoma arising from an ovarian mature cystic teratoma.

  17. Imaging the Abdominal Manifestations of Cystic Fibrosis

    PubMed Central

    McDermott, S.; Chan, V. O.; Ridge, C. A.

    2017-01-01

    Cystic fibrosis (CF) is a multisystem disease with a range of abdominal manifestations including those involving the liver, pancreas, and kidneys. Recent advances in management of the respiratory complications of the disease has led to a greater life expectancy in patients with CF. Subsequently, there is increasing focus on the impact of abdominal disease on quality of life and survival. Liver cirrhosis is the most important extrapulmonary cause of death in CF, yet significant challenges remain in the diagnosis of CF related liver disease. The capacity to predict those patients at risk of developing cirrhosis remains a significant challenge. We review representative abdominal imaging findings in patients with CF selected from the records of two academic health centres, with a view to increasing familiarity with the abdominal manifestations of the disease. We review their presentation and expected imaging findings, with a focus on the challenges facing diagnosis of the hepatic manifestations of the disease. An increased familiarity with these abdominal manifestations will facilitate timely diagnosis and management, which is paramount to further improving outcomes for patients with cystic fibrosis. PMID:28250993

  18. Targeting ion channels in cystic fibrosis.

    PubMed

    Mall, Marcus A; Galietta, Luis J V

    2015-09-01

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

  19. 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

  20. Medullary cystic disease: a family study.

    PubMed

    Chen, H C; Chang, J M; Tsai, J H; Lai, Y H

    1998-03-01

    Medullary cystic disease of the kidney is characterized by progressive tubulointerstitial disease with medullary cyst formation and secondary glomerular sclerosis. We treated a patient with chronic renal failure and investigated the family history of renal disease. The patient, an 18-year-old woman, was admitted due to poor appetite and fatigue for several months. Findings on physical examination were normal except for a pale conjunctiva. Urinalysis revealed only mild proteinuria with clear sediment. The hemogram showed normocytic normochromic anemia with hemoglobin 86 g/L. The patient was azotemic and her creatinine clearance rate was 10.7 mL/min. Renal sonography showed contraction of both kidneys with a marked increase in cortical echogenicity. One small cyst was found in the medullary area. Computed tomography (CT) and magnetic resonance imaging revealed several medullary cysts. Percutaneous renal biopsy showed focal and periglomerular sclerosis, marked tubular atrophy, and interstitial fibrosis. Ten of her family members were examined for renal function, and by sonography and CT. Five had medullary cysts, and three of the five showed abnormal renal function. Medullary cystic disease should be considered in the differential diagnosis of patients with renal disease and a positive family history.

  1. 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

  2. [Vitamin E deficiency in cystic fibrosis].

    PubMed

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

    1987-12-01

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

  3. Comparative biology of cystic fibrosis animal models.

    PubMed

    Fisher, John T; Zhang, Yulong; Engelhardt, John F

    2011-01-01

    Animal models of human diseases are critical for dissecting mechanisms of pathophysiology and developing therapies. In the context of cystic fibrosis (CF), mouse models have been the dominant species by which to study CF disease processes in vivo for the past two decades. Although much has been learned through these CF mouse models, limitations in the ability of this species to recapitulate spontaneous lung disease and several other organ abnormalities seen in CF humans have created a need for additional species on which to study CF. To this end, pig and ferret CF models have been generated by somatic cell nuclear transfer and are currently being characterized. These new larger animal models have phenotypes that appear to closely resemble human CF disease seen in newborns, and efforts to characterize their adult phenotypes are ongoing. This chapter will review current knowledge about comparative lung cell biology and cystic fibrosis transmembrane conductance regulator (CFTR) biology among mice, pigs, and ferrets that has implications for CF disease modeling in these species. We will focus on methods used to compare the biology and function of CFTR between these species and their relevance to phenotypes seen in the animal models. These cross-species comparisons and the development of both the pig and the ferret CF models may help elucidate pathophysiologic mechanisms of CF lung disease and lead to new therapeutic approaches.

  4. Lessons learned from metabolomics in cystic fibrosis.

    PubMed

    Muhlebach, Marianne S; Sha, Wei

    2015-12-01

    Cystic fibrosis is a mono-genetic multi-system disease; however, respiratory manifestations cause the main morbidity and mortality where chronic bacterial infections lead to bronchiectasis and ultimately respiratory failure. Metabolomics allows a relatively complete snapshot of metabolic processes in a sample using different mass spectrometry methods. Sample types used for discovery of biomarkers or pathomechanisms in cystic fibrosis (CF) have included blood, respiratory secretions, and exhaled breath to date. Metabolomics has shown distinction of CF vs. non-CF for matrices of blood, exhaled breath, and respiratory epithelial cultures, each showing different pathways. Severity of lung disease has been addressed by studies in bronchoalveolar lavage and exhaled breath condensate showing separation by metabolites that the authors of each study related to inflammation; e.g., ethanol, acetone, purines. Lipidomics has been applied to blood and sputum samples showing associations with lung function and Pseudomonas aeruginosa infection status. Finally, studies of bacteria grown in vitro showed differences of bacterial metabolites to be associated with clinical parameters. Metabolomics, in the sense of global metabolomic profiling, is a powerful technique that has allowed discovery of pathways that had not previously been implicated in CF. These may include purines, mitochondrial pathways, and different aspects of glucose metabolism besides the known differences in lipid metabolism in CF. However, targeted studies to validate such potential metabolites and pathways of interest are necessary. Studies evaluating metabolites of bacterial origin are in their early stages. Thus further well-designed studies could be envisioned.

  5. Cystic echinococcosis in Greece. Past and present.

    PubMed

    Sotiraki, S; Chaligiannis, I

    2010-09-01

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

  6. 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.

  7. Stereotaxic intracavitary irradiation for cystic craniopharyngiomas

    SciTech Connect

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

    1988-02-01

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

  8. Systemic corticosteroid and isotretinoin treatment in cystic acne.

    PubMed

    Karvonen, S L; Vaalasti, A; Kautiainen, H; Reunala, T

    1993-12-01

    Prednisolone combined with erythromycin was given to 6 patients with cystic acne. The treatment responses were compared to those in 6 patients with cystic acne receiving isotretinoin and erythromycin and also to those in 3 patients with acne fulminans treated with prednisolone and erythromycin. During the first 4 weeks cystic acne showed a clear improvement in 5 out of 6 patients in both treatment groups. A similar improvement occurred in all 3 patients with acne fulminans. When corticosteroid was stopped, 2 out of 5 patients with cystic acne had a relapse and needed isotretinoin for complete control. In the isotretinoin-treated group, one patient with cystic acne needed prednisolone because the acne worsened to an ulcerative form. Slightly elevated liver enzymes, possibly due to erythromycin treatment, were observed in 2 patients with cystic acne and in one patient with acne fulminans. The present results show that prednisolone combined with erythromycin is an effective treatment during the early stages of cystic and febrile acne, but isotretinoin is needed for long-term control.

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

    PubMed

    Tolstoi, L G; Smith, C L

    1999-11-01

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

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

    PubMed

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

    2008-01-01

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

  11. 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

  12. Surgical Outcome of Idiopathic Epiretinal Membranes with Intraretinal Cystic Spaces

    PubMed Central

    Shiode, Yusuke; Morizane, Yuki; Toshima, Shinji; Kimura, Shuhei; Kumase, Fumiaki; Hosokawa, Mio; Hirano, Masayuki; Doi, Shinichiro; Takahashi, Kosuke; Hosogi, Mika; Fujiwara, Atsushi; Shiraga, Fumio

    2016-01-01

    Objective To investigate the occurrence ratio, localization, and surgical outcomes of intraretinal cystic spaces in idiopathic epiretinal membranes (ERMs). Methods We retrospectively reviewed the charts of 432 eyes of 398 consecutive patients with idiopathic ERM who underwent vitrectomy and ERM peeling from January 2012 to September 2015. We selected cases with intraretinal cystic space prior to surgery, detected by spectral-domain optical coherence tomography. We then evaluated the effects of ERM peeling on intraretinal cystic spaces, best corrected visual acuity, and central retinal thickness at 6 months after surgery. Results Twenty-four eyes (5.5%) showed intraretinal cystic spaces before surgery, present in the inner retinal layer (the inner group) in 9 eyes, in the outer retinal layer (the outer group) in 6 eyes, and in both the inner and the outer retinal layers (the combined group) in 9 eyes. Additionally, 30 eyes with ERM but without any presence of intraretinal cystic space were selected randomly and classified as the no cyst group. At 6 months after surgery, the disappearance rate of cystic spaces was significantly greater for the outer group than for the inner group (83.3% and 11.1%, respectively, P = 0.011). The mean best corrected visual acuity improved significantly after surgery in the inner group, the outer group, and the no cyst group (P < 0.05 for all three groups) but did not improve in the combined group (P = 0.58). The mean central retinal thickness decreased significantly after surgery in the inner group, the combined group, and the no cyst group (P < 0.05). Conclusions Intraretinal cystic spaces were observed in 5.5% of preoperative idiopathic ERM cases. Following surgery, the cystic spaces in the outer retinal layer disappeared at higher rates than those in the inner retinal layer, suggesting that the pathophysiologies of these cystic spaces are different. PMID:27992520

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

    PubMed

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

    2016-11-01

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

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

    ClinicalTrials.gov

    2017-04-03

    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

  15. Spectrum and Classification of Cystic Neoplasms of the Pancreas.

    PubMed

    Greer, Jonathan B; Ferrone, Cristina R

    2016-04-01

    As patients are living longer and axial imaging is more widespread, increasing numbers of cystic neoplasms of the pancreas are found. Intraductal papillary mucinous neoplasms and mucinous cystic neoplasms are the most common. The revised Sendai guidelines provide a safe algorithm for expectant management of certain cystic neoplasms; however, studies are ongoing to identify further subgroups that can be treated nonoperatively. For those patients with high-risk clinical features or symptoms, surgical resection can be performed safely at high-volume pancreatic centers. Accurate diagnosis is critical for accurate decision making.

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

    PubMed

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

    2011-07-01

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

  17. 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.

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

    SciTech Connect

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

    1984-06-01

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

  19. Cystic fibrosis pulmonary guidelines: treatment of pulmonary exacerbations.

    PubMed

    Flume, Patrick A; Mogayzel, Peter J; Robinson, Karen A; Goss, Christopher H; Rosenblatt, Randall L; Kuhn, Robert J; Marshall, Bruce C

    2009-11-01

    The natural history of cystic fibrosis lung disease is one of chronic progression with intermittent episodes of acute worsening of symptoms frequently called acute pulmonary exacerbations These exacerbations typically warrant medical intervention. It is important that appropriate therapies are recommended on the basis of available evidence of efficacy and safety. The Cystic Fibrosis Foundation therefore established a committee to define the key questions related to pulmonary exacerbations, review the clinical evidence using an evidence-based methodology, and provide recommendations to clinicians. It is hoped that these guidelines will be helpful to clinicians in the treatment of individuals with cystic fibrosis.

  20. Flow in Idealised Compliant Human Cystic Duct Models

    NASA Astrophysics Data System (ADS)

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

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

  1. Diagnosis and treatment of cystic lung disease

    PubMed Central

    Park, Sanghoon; Lee, Eun Joo

    2017-01-01

    Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually < 2 mm). The recognition of CLDs has increased with the widespread use of computed tomography. This article addresses the mechanisms of cyst formation and the diagnostic approaches to CLDs. A number of assessment methods that can be used to confirm CLDs are discussed, including high-resolution computed tomography, pathologic approaches, and genetic/ serologic markers, together with treatment modalities, including new therapeutic drugs currently being evaluated. The CLDs covered by this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis, Birt-Hogg-Dube syndrome, lymphocytic interstitial pneumonia/follicular bronchiolitis, and amyloidosis. PMID:28264540

  2. Infantile Cystic Hygroma: An Unusual Perioperative Course

    PubMed Central

    Saini, Suman; Dayal, Madhu; Gupta, Amita

    2017-01-01

    Airway management of an infant with a giant cervical lump may be a difficult task. The anesthesiologist must be prepared to face associated challenges during securing the airway in such patients. We report our experience with One year old infant who presented with huge cystic hygroma in the cervical region leading to recurrent episodes of respiratory tract infection and distress. Surgical removal was needed as sclerotherapy proved ineffective in reducing its size. Proseal laryngeal mask airway was used as a conduit after inhalational induction since airway could not be maintained with bag and mask. The child was tracheostomized postoperatively and also had a prolonged Intensive Care Unit stay. Difficulties encountered in intubation and postoperative management of this child are discussed in this report.

  3. Nutrition and growth in cystic fibrosis.

    PubMed

    Hankard, Régis; Munck, Anne; Navarro, Jean

    2002-01-01

    Malnutrition is a common complication of chronic diseases in children and may lead to growth impairment (stunting). Malnutrition in cystic fibrosis (CF) results from increased energy expenditure, decreased energy intakes, malabsorption of ingested nutrients because of pancreatic insufficiency and chronic inflammation. Malnutrition and high levels of inflammatory cytokines affect IGF-1 production through interrelated mechanisms. Nutritional support was shown to improve both nutritional status and outcome in CF. However, some nutrients have a direct effect on the disease. n-3 fatty acids supplementation is able to correct lipid abnormalities resulting from a primary mechanism. Moreover, n-3 fatty acids have a direct effect on the inflammatory response, decreasing eicosanoid synthesis and modulating nuclear transcriptional factors nuclear factor kappaB and peroxisome proliferator-activated receptors gamma. Nutritional support may be considered part of the care of the CF patient together with antibiotics, pancreatic enzymes and physiotherapy, influencing significantly the evolution of the disease.

  4. Control programme for cystic echinococcosis in Uruguay.

    PubMed

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

    2016-05-24

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

  5. Dosimetry for radiocolloid therapy of cystic craniopharyngiomas.

    PubMed

    Rojas, E Leticia; Al-Dweri, Feras M O; Lallena, Antonio M; Bodineau, Coral; Galán, Pedro

    2003-09-01

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

  6. High dose Nutrizym 22 in cystic fibrosis.

    PubMed

    Shah, A; Dinwiddie, R; Madge, S; Prescott, P; Hudson, G

    1993-09-01

    New high dose pancreatic enzyme preparations could be potentially helpful to cystic fibrosis (CF) patients. The purpose of this study was to compare the efficacy of the new high dose pancreatic enzyme preparation, Nutrizym 22 with the standard preparation Nutrizym GR. Twenty-five CF children (aged 7-16 years) entered the study and 22 completed it; 3 did not, due to non-compliance. All were taking Nutrizym GR for at least 2 weeks before entering the study. A randomised double blind, crossover method using standard Nutrizym GR or double strength Nutrizym 22 capsules was carried out over two consecutive 14-day periods. Crossover analyses of variance showed no statistically significant differences in actual weight gain, appetite, abdominal pain, stool consistency or faecal fat during the prestudy and study periods. It is concluded that half the capsule numbers of the high strength preparation are just as effective as the standard capsule dosage.

  7. Genetic therapies for cystic fibrosis lung disease

    PubMed Central

    Sinn, Patrick L.; Anthony, Reshma M.; McCray, Paul B.

    2011-01-01

    The aim of gene therapy for cystic fibrosis (CF) lung disease is to efficiently and safely express the CF transmembrane conductance regulator (CFTR) in the appropriate pulmonary cell types. Although CF patients experience multi-organ disease, the chronic bacterial lung infections and associated inflammation are the primary cause of shortened life expectancy. Gene transfer-based therapeutic approaches are feasible, in part, because the airway epithelium is directly accessible by aerosol delivery or instillation. Improvements in standard delivery vectors and the development of novel vectors, as well as emerging technologies and new animal models, are propelling exciting new research forward. Here, we review recent developments that are advancing this field of investigation. PMID:21422098

  8. 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.

  9. 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

  10. Other mucoactive agents for cystic fibrosis.

    PubMed

    Bye, Peter T P; Elkins, Mark R

    2007-03-01

    This review examines specific mucoactive agents from three classes: expectorants, which add water to the airway; ion-transport modifiers, which promote ion and water transport across the epithelium of the airway; and mucokinetics, which improve cough-mediated clearance by increasing airflow or reducing sputum adhesivity. The agents are isotonic and hypertonic saline, mannitol, denufosol and beta-agonists. Our understanding of these agents has recently improved through pre-clinical research, clinical trials and, in particular, extensive research into the nature of the liquid lining the surface of the airway, both in health and in cystic fibrosis (CF). For each agent, recent research is reviewed, highlighting the evidence for possible mechanisms of action and for clinical efficacy in CF, as well as the implications for the optimal clinical application of the agent.

  11. Global impact of bronchiectasis and cystic fibrosis

    PubMed Central

    Redondo, Margarida; Keyt, Holly; Dhar, Raja

    2016-01-01

    Educational aims To recognise the clinical and radiological presentation of the spectrum of diseases associated with bronchiectasis. To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems. Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections. It can be caused by a range of inherited and acquired disorders, or may be idiopathic in nature. The most well recognised inherited disorder in Western countries is cystic fibrosis (CF), an autosomal recessive condition that leads to progressive bronchiectasis, bacterial infection and premature mortality. Both bronchiectasis due to CF and bronchiectasis due to other conditions are placing an increasing burden on healthcare systems internationally. Treatments for CF are becoming more effective leading to more adult patients with complex healthcare needs. Bronchiectasis not due to CF is becoming increasingly recognised, particularly in the elderly population. Recognition is important and can lead to identification of the underlying cause, appropriate treatment and improved quality of life. The disease is highly diverse in its presentation, requiring all respiratory physicians to have knowledge of the different “bronchiectasis syndromes”. The most common aetiologies and presenting syndromes vary depending on geography, with nontuberculous mycobacterial disease predominating in some parts of North America, post-infectious and idiopathic disease predominating in Western Europe, and post-tuberculosis bronchiectasis dominating in South Asia and Eastern Europe. Ongoing global collaborative studies will greatly advance our understanding of the international impact of bronchiectasis and CF. PMID:28210295

  12. 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

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

    PubMed Central

    Skolimowski, M.; Weiss Nielsen, M.; Abeille, F.; Skafte-Pedersen, P.; Sabourin, D.; Fercher, A.; Papkovsky, D.; Molin, S.; Taboryski, R.; Sternberg, C.; Dufva, M.; Geschke, O.; Emnéus, J.

    2012-01-01

    A modular microfluidic airways model system that can simulate the changes in oxygen tension in different compartments of the cystic fibrosis (CF) airways was designed, developed, and tested. The fully reconfigurable system composed of modules with different functionalities: multichannel peristaltic pumps, bubble traps, gas exchange chip, and cell culture chambers. We have successfully applied this system for studying the antibiotic therapy of Pseudomonas aeruginosa, the bacteria mainly responsible for morbidity and mortality in cystic fibrosis, in different oxygen environments. Furthermore, we have mimicked the bacterial reinoculation of the aerobic compartments (lower respiratory tract) from the anaerobic compartments (cystic fibrosis sinuses) following an antibiotic treatment. This effect is hypothesised as the one on the main reasons for recurrent lung infections in cystic fibrosis patients. PMID:23908680

  14. Posterior left atrial wall hematoma mimicking cystic intracavitary atrial mass.

    PubMed

    Bahnacy, Yasser; Suresh, Cheriyil; Dawoud, Hamed; Zubaid, Mohammad

    2010-10-01

    Atrial myxoma is the most common benign primary tumor of the heart most commonly in the left atrium (LA). Cystic or cavitated intracardiac masses are rare. We report the case of a 43-year-old male patient admitted with chest infection, hemoptysis, and severe respiratory distress, who had to be ventilated. Chest computed tomography showed bilateral lung consolidation with large mass occupying the region of the LA. Transthoracic echocardiography and transesophageal echocardiography showed a large intracavitary left atrial cystic mobile mass. Open-heart surgical exploration did not show any mass inside the LA. A posterior left atrial wall hematoma was found and evacuated. Biopsies confirmed the presence of blood clots. Posterior left atrial wall hematoma may appear as left atrial intracavitary cystic mass and should be included in the differential diagnosis of cystic left atrial mass.

  15. 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

  16. 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.

  17. Treatment and prognosis of rectal prolapse in cystic fibrosis.

    PubMed

    Stern, R C; Izant, R J; Boat, T F; Wood, R E; Matthews, L W; Doershuk, C F

    1982-04-01

    Rectal prolapse occurred in 112 (18.5%) of 605 cystic fibrosis patients. In 48 patients prolapse preceded diagnosis of cystic fibrosis, but physicians (pediatricians, pediatric and general surgeons, and proctologists) rarely appreciated its importance as a symptom of this disease. Prolapses frequently cease with institution of pancreatic enzyme replacement therapy following diagnosis of cystic fibrosis. However, even when the disease remains undiagnosed, the symptom is often transient and frequently resolves at 3-5 yr of age. Prolapse occurring initially after cystic fibrosis is diagnosed rarely responds to manipulation of diet or enzyme doses. Many patients develop a method of reduction which involves voluntary abdominal, perineal, and gluteal muscles and does not require manual pressure on the prolapsed segment. Most patients do not need specific treatment for the prolapse. Surgery is rarely necessary. A sweat test should be obtained on any child who has had even a single episode of rectal prolapse.

  18. Florid Cystic Endosalpingiosis (Müllerianosis) in Pregnancy

    PubMed Central

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

    2016-01-01

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

  19. 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 ...

  20. Cystic choroid plexus papilloma in the cavum septum pellucidum.

    PubMed

    Tuchman, Alexander; Kalhorn, Stephen P; Mikolaenko, Irina; Wisoff, Jeffrey H

    2009-12-01

    A choroid plexus papilloma is a rare CNS neoplasm arising from the neuroepithelial lining of the choroid plexus. A third ventricular location of a choroid plexus papilloma is rare compared with the more common sites in the lateral and fourth ventricles. Cystic choroid plexus papilloma represents an infrequent subtype that may present diagnostic ambiguity. The authors present a case of cystic choroid plexus papilloma within a cavum septum pellucidum that radiographically mimicked neurocysticercosis.

  1. 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.

  2. Cystic Meningioma Simulating Arachnoid Cyst: Report of an Unusual Case

    PubMed Central

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

    2014-01-01

    The purpose of this paper is to show an unusual case of meningioma simulating arachnoid cyst on CT scan and MRI, diagnosed in a 63-year-old woman evaluated for headache and vision disorders. The meningioma shown is predominantly cystic with a small mural nodule enhancing after gadolinium and exhibiting diffusion restriction. Cystic portion of the tumor is hypodense on CT, and evidences fluid signal intensity on T1- and T2-weighted MR imaging. PMID:25057425

  3. Reduced upper airway nitric oxide in cystic fibrosis.

    PubMed Central

    Balfour-Lynn, I M; Laverty, A; Dinwiddie, R

    1996-01-01

    Nitric oxide (NO) produced within the respiratory tract is detectable in exhaled and nasal air. Its synthesis may be induced by inflammatory cytokines and reduced by glucocorticoids. Increased concentrations have been found in asthma and bronchiectasis. In this study, NO concentrations were determined in 63 children with cystic fibrosis, of whom 13 were on inhaled steroids (mean age 13.3 years) and 50 were not (mean age 12.3 years); 57 normal children (mean age 12.2 years) were also studied. NO was measured by chemiluminescence analyser, exhaled NO following a relaxed vital capacity manoeuvre, and nasal NO with the breath held following a full inspiration. Mean concentration of exhaled NO in cystic fibrosis patients (no steroids) was 4.7 parts per billion (ppb) (95% confidence interval (CI) 4.0 to 5.3); this did not differ from values in normal children (mean 4.8 ppb, 95% CI 3.8 to 5.8) or in cystic fibrosis patients on inhaled steroids (mean 3.6 ppb, 95% CI 2.5 to 4.8). Nasal concentrations were significantly lower in cystic fibrosis patients, with or without inhaled steroids, than in normal children (cystic fibrosis, no inhaled steroids: 460 ppb, 95% CI 399 to 520; cystic fibrosis, inhaled steroids: 522 ppb, 95% CI 313 to 730, v normal children: 1024 ppb, 95% CI 896 to 1152, p < 0.0001). Considering the inflammatory nature of cystic fibrosis, it is surprising exhaled NO levels were not increased, but this may have been due to alteration in NO diffusion through thick mucus. The low nasal NO concentrations, which are probably the result of impaired flow from the paranasal sinuses, may contribute to the recurrent respiratory infections typical of cystic fibrosis. PMID:8984918

  4. [Intestinal cystic duplication in infants and the etiology of intussusception].

    PubMed

    Kasis, A; Sabo, E; Mogilner, J G; Boss, J

    1993-11-15

    2 infants, 3 months old and 8 months, respectively, with restlessness and vomiting were each found to have ileocolic intussusception with barium filling defects. Laparotomy disclosed in each a dome-shaped structure, 2 cm and 0.6 cm in greatest diameter, respectively, on the antimesenteric side of the ileal wall. Histological examination showed cystic duplication of the ileum. It is suggested that manual reduction generally fails when cystic duplication is an etiological factor, and surgery is then mandatory.

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

    PubMed Central

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

    2017-01-01

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

  6. Hormonal abnormalities of the pancreas and gut in cystic fibrosis.

    PubMed

    Adrian, T E; McKiernan, J; Johnstone, D I; Hiller, E J; Vyas, H; Sarson, D L; Bloom, S R

    1980-09-01

    We have investigated the effect of cystic fibrosis on alimentary hormones in 10 children by measuring the pancreatic and gut hormone rsponse to a milk drink. Plasma insulin and gastric inhibitory peptide were both significantly reduced (P < 0.05 and P < 0.005, respectively, at 15 min) in the patients with cystic fibrosis, compared with controls, even though the early glucose rise was greater in the former group (P < 0.05 at 15 min). Fasting levels of pancreatic polypeptide were significantly lower in the fibrocystic children (P < 0.01), and the normal response to milk was completely abolished in these patients (P < 0.001). Fasting plasma enteroglucagon concentrations were grossly abolished in the cystic fibrosis patients (P < 0.001) and these remained elevated throughout the test. No significant differences were seen in basal or postmilk responses of plasma glucagon, gastrin, secretin, vasoactive intestinal peptide, or motilin in cystic fibrosis. It would thus appear that the pancreatic polypeptide cell is more susceptible to the effects of the disease process than the beta or alpha cell in cystic fibrosis. Some aspects of the abnormalities in the gastrointestinal endocrine system were similar to those seen in celiac disease and tropical sprue and may, therefore, effect a similar hormonal response in these patients with cystic fibrosis to those with mucosal damage.

  7. Mechanisms of gastro-oesophageal reflux in cystic fibrosis.

    PubMed Central

    Cucchiara, S; Santamaria, F; Andreotti, M R; Minella, R; Ercolini, P; Oggero, V; de Ritis, G

    1991-01-01

    Abnormal degrees of gastro-oesophageal reflux (GOR) were detected by 24 hour intraoesophageal pH measurement in 12 of 14 children (mean age 7.9 years; range 5 months-16 years) affected by cystic fibrosis and complaining of symptoms suggesting GOR. These patients underwent combined recording of distal oesophageal motility and intraluminal pH in order to investigate mechanisms of GOR. Inappropriate lower oesophageal sphincter relaxation was the most common mechanism of reflux in all patients. Other mechanisms (appropriate relaxation or lowered pressure of the lower oesophageal sphincter, increased intragastric pressure) were detected less frequently. Frequency of inappropriate lower oesophageal sphincter relaxations was significantly higher in patients with cystic fibrosis than in other study groups (symptomatic GOR, GOR disease complicated by respiratory complaints). Inappropriate lower oesophageal sphincter relaxations occurred with the same frequency in patients with cystic fibrosis and in a group of children with GOR disease complicated by oesophagitis. Abnormalities of distal oesophageal contractions such as decreased amplitude or uncoordinated waves were also recorded in cystic fibrosis patients. Seven patients with cystic fibrosis completed a therapeutic trial for eight weeks consisting of postural treatment and oral cisapride, a new prokinetic drug. The oesophageal acid exposure improved in only three patients. We conclude that pathologic GOR is commonly associated with cystic fibrosis. The predominant reflux mechanism in these patients is a transient inappropriate lower oesophageal sphincter relaxation rather than a low steady state basal lower oesophageal sphincter pressure. PMID:2039253

  8. 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

  9. Respiratory infections in patients with cystic fibrosis undergoing lung transplantation.

    PubMed

    Lobo, Leonard J; Noone, Peadar G

    2014-01-01

    Cystic fibrosis is an inherited disease characterised by chronic respiratory infections associated with bronchiectasis. Lung transplantation has helped to extend the lives of patients with cystic fibrosis who have advanced lung disease. However, persistent, recurrent, and newly acquired infections can be problematic. Classic cystic fibrosis-associated organisms, such as Staphylococcus aureus and Pseudomonas aeruginosa, are generally manageable post-transplantation, and are associated with favourable outcomes. Burkholderia cenocepacia poses particular challenges, although other Burkholderia species are less problematic. Despite concerns about non-tuberculous mycobacteria, especially Mycobacterium abscessus, post-transplantation survival has not been definitively shown to be less than average in patients with these infections. Fungal species can be prevalent before and after transplantation and are associated with high morbidity, so should be treated aggressively. Appropriate viral screening and antiviral prophylaxis are necessary to prevent infection with and reactivation of Epstein-Barr virus and cytomegalovirus and their associated complications. Awareness of drug pharmacokinetics and interactions in cystic fibrosis is crucial to prevent toxic effects and subtherapeutic or supratherapeutic drug dosing. With the large range of potential infectious organisms in patients with cystic fibrosis, infection control in hospital and outpatient settings is important. Despite its complexity, lung transplantation in the cystic fibrosis population is safe, with good outcomes if the clinician is aware of all the potential pathogens and remains vigilant by means of surveillance and proactive treatment.

  10. 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

  11. 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.

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

    PubMed Central

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

    2016-01-01

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

  13. 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.

  14. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.

    PubMed

    Cohn, Jonathan A; Neoptolemos, John P; Feng, Jinong; Yan, Jin; Jiang, Zefei; Greenhalf, William; McFaul, Christopher; Mountford, Roger; Sommer, Steve S

    2005-10-01

    Cystic fibrosis (CF) is a recessive disease caused by mutations of the CF transmembrane conductance regulator (CFTR) gene. The risk of idiopathic chronic pancreatitis (ICP) is increased in individuals who have CFTR genotypes containing a CF-causing mutation plus a second pathogenic allele. It is unknown whether the risk of ICP is increased in CF carriers who have one CF-causing mutation plus one normal allele. In this study, 52 sporadic cases of ICP were ascertained through the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer. Individuals with pathogenic cationic trypsinogen mutations were excluded. DNA was comprehensively tested for CFTR mutations using a robotically enhanced, multiplexed, and highly redundant form of single-strand conformation polymorphism (SSCP) analysis followed by DNA sequencing. Fifteen subjects had a total of 18 pathogenic CFTR alleles. Eight subjects had common CF-causing mutations. This group included seven CF carriers in whom the second CFTR allele was normal (4.3 times the expected frequency, P=0.0002). Three subjects had compound heterozygotes genotypes containing two pathogenic alleles (31 times the expected frequency, P<0.0001). A variant allele of uncertain significance (p.R75Q) was detected in eight of the 52 ICP subjects and at a similar frequency (13/96) in random donors. ICP differs from other established CFTR-related conditions in that ICP risk is increased in CF carriers who have one documented normal CFTR allele. Having two CFTR mutations imparts a higher relative risk, while having only one mutation imparts a higher attributable risk.

  15. 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.

  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. 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.

  18. IRON HOMEOSTASIS DURING CYSTIC FIBROSIS PULMONARY EXACERBATION

    PubMed Central

    Gifford, Alex H.; Moulton, Lisa A.; Dorman, Dana B.; Olbina, Gordana; Westerman, Mark; Parker, H. Worth; Stanton, Bruce A.; O’Toole, George A.

    2012-01-01

    Hypoferremia is a marker of disease severity in cystic fibrosis (CF). The effect of systemic antibiotics on iron homeostasis during CF pulmonary exacerbation (CFPE) is unknown. Our central hypotheses were that, by the completion of treatment, serum iron would increase, serum concentrations of interleukin-6 (IL-6) and hepcidin-25, two mediators of hypoferremia, would decrease, and sputum iron would decrease. Methods: Blood and sputum samples were collected from 12 subjects with moderate-to-severe CF (median percent-predicted forced expiratory volume in one second (FEV1%) = 29%; median weight = 56 kg) within 24 hours of starting and completing a course of systemic antibiotics. Results: After treatment, subjects showed median FEV1% and body weight improvements of 4.5% and 2.0 kg, respectively (p <0.05). Median serum iron rose by 2.4 μmol/l (p <0.05), but 75% of patients remained hypoferremic. Median serum IL-6 and hepcidin-25 levels fell by 12.1 pg/ml and 37.5 ng/ml, respectively (p <0.05). Median serum erythropoietin (EPO) and hemoglobin levels were unaffected by treatment. We observed a trend toward lower sputum iron content after treatment. Conclusions: Hypoferremia is a salient characteristic of CFPE that improves with waning inflammation. Despite antibiotic treatment, many patients remain hypoferremic and anemic due to ineffective erythropoiesis. PMID:22883617

  19. A millennial view of cystic fibrosis.

    PubMed

    Dodge, John A

    2015-01-01

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

  20. Sodium chloride deficiency in cystic fibrosis patients.

    PubMed

    Ozçelik, U; Göçmen, A; Kiper, N; Coşkun, T; Yilmaz, E; Ozgüç, M

    1994-11-01

    Sodium chloride deficiency (SCD) was observed within the 1st year of life in 12 of 46 cystic fibrosis (CF) patients between July 1989 and September 1992. All patients showed sweating, loss of appetite, fever, vomiting, irritation, dehydration, weakness, and cyanosis during an attack. Mean plasma sodium, potassium and chloride levels were 122.9 (range 106-135), 2.5 (range 1.6-3.5), and 73.3 (range 60-90) mEq/l respectively. Alkalosis and elevated plasma renin activity were detected in all patients. Of the patients, 50% showed microscopic haematuria, and hypercalciuria was detected in two out of four patients. Low urinary sodium and high urinary potassium were observed in the four examined patients. Increased creatinine, BUN and uric acid values returned to normal with treatment. All the patients were treated initially with intravenous fluids and electrolyte solutions. All patients were less than 7 months of age during the first attack, five received only breast milk and the others breast milk with formula milk. Their oral salt supplement was 2-4 mEq/kg per day, which is recommended for CF patients, but could be deficient in excessively sweating infants. The genotype of these patients might be cause of high salt losses. F508 is the most common mutation with the frequency of 38% in our CF patients with SCD, but the frequency of unknown mutations is high (54%).

  1. Appetite stimulants use in cystic fibrosis.

    PubMed

    Nasr, Samya Z; Drury, Donna

    2008-03-01

    Cystic fibrosis (CF) is an autosomal recessive disease. It affects multiple body organs. The lungs and pancreas are the most affected which results in progressive lung damage and pancreatic insufficiency. Due to the disease process, CF patients require significantly higher caloric intake than recommended for other individuals. The nutritional goal for CF patients is to achieve normal growth and development and, once genetic potential is reached, to maintain good nutritional status throughout life. Evidence has shown that lung function is closely associated with nutritional status in CF and that nutritional status is an independent predictor of survival. Most CF patients are on a high calorie diet to help achieve normal growth and development and maintain good lung function. Inadequate caloric intake in CF can lead to malnutrition. Malnutrition in CF requires careful, multidisciplinary history taking, physical exam, and overall patient/family assessment. Only by determining the actual cause of the malnutrition can appropriate and safe therapies be used to treat it. Appetite stimulants, although efficacious in treating malnutrition in CF, should only be prescribed if decreased food intake secondary to inadequate appetite is the principal cause of the malnutrition and all other contributing factors have been assessed, ruled-out or treated. In this review, we attempted to summarize the use of several appetite stimulants used in CF and other diseases to improve appetite and maximize caloric intake.

  2. Tracheal microaspiration in adult cystic fibrosis.

    PubMed

    Ledson, M J; Wilson, G E; Tran, J; Walshaw, M J

    1998-01-01

    Gastro-oesophageal reflux (GOR) has been implicated in the aetiology of lung disease. Cystic fibrosis (CF) patients have a high incidence of GOR symptoms with demonstrable episodes of oesophageal acidification. We studied 24-hour ambulatory tracheal and oesophageal pH in 11 CF patients with GOR symptoms to identify any episodes of tracheal acidification and define their temporal relation to oesophageal reflux and respiratory symptoms. 8 patients had evidence of significant GOR (DeMeester score mean 58; range 17-107) and in 6 it was gross (DeMeester score > 30). 4 patients had tracheal acidification (defined as tracheal pH < 5.5): all had greatly raised DeMeester scores. Two patterns of lowered tracheal pH were seen: a gradual drift downwards of tracheal pH to < 5.5 which recovered slowly, and an acute fall in tracheal pH to < 5.5 with rapid recovery. Only one patient had a fall in peak expiratory flow in conjunction with a decline in tracheal pH, and no association was found between the presence of tracheal microaspiration and pulmonary function. We conclude that tracheal acidification occurs in adult CF patients with GOR.

  3. Is cystic fibrosis genetic medicine's canary?

    PubMed

    Lindee, Susan; Mueller, Rebecca

    2011-01-01

    In 1989 the gene that causes cystic fibrosis (CF) was identified in a search accompanied by intense anticipation that the gene, once discovered, would lead rapidly to gene therapy. Many hoped that the disease would effectively disappear. Those affected were going to inhale vectors packed with functioning genes, which would go immediately to work in the lungs. It was a bewitching image, repeatedly invoked in both scientific and popular texts. Gene therapy clinical trials were carried out with a range of strategies and occasionally success seemed close, but by 1996 the idea that gene therapy for CF would quickly provide a cure was being abandoned by the communities engaged with treatment and research. While conventional wisdom holds that the death of Jesse Gelsinger in an unrelated gene therapy trial in 1999 produced new skepticism about gene therapy, the CF story suggests a different trajectory, and some different lessons. This article considers the rise and fall of gene therapy for CF and suggests that CF may provide a particularly compelling case study of a failed genomic technology, perhaps even of a medical "canary." The story of CF might be a kind of warning to us that genetic medicine may create as many problems as it solves, and that moving forward constructively with these techniques and practices requires many kinds of right information, not just about biology, but also about values, priorities, market forces, uncertainty, and consumer choice.

  4. Diagnosis of Cystic Echinococcosis, Central Peruvian Highlands

    PubMed Central

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

    2008-01-01

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

  5. The cystic fibrosis lower airways microbial metagenome

    PubMed Central

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

    2016-01-01

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

  6. The cystic fibrosis lower airways microbial metagenome.

    PubMed

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

    2016-04-01

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

  7. The Evolution of Cystic Fibrosis Care

    PubMed Central

    Ferkol, Thomas W.

    2015-01-01

    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

  8. 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

  9. [Inhaled antibiotic therapy in cystic fibrosis].

    PubMed

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

    2011-06-01

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

  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. 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

  12. 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.

  13. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.

    PubMed

    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

    2008-08-01

    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.

  14. Hemolymphangioma: a rare differential diagnosis of cystic-solid or cystic tumors of the pancreas.

    PubMed

    Dong, Fei; Zheng, Yi; Wu, Jian-Jun; Fu, Yan-Biao; Jin, Kai; Chao, Ming

    2013-06-14

    We report a case of pancreatic hemolymphangioma. Hemolymphangioma is a malformation of both lymphatic vessels and blood vessels. The incidence of this disease in the pancreas is extremely rare. To the best of our knowledge, only seven cases have been reported worldwide (PubMed). A 39-year-old woman with a one-day history of abdominal pain was admitted to our hospital. There was no obvious precipitating factor. The preoperative examination, including ultrasonography and computed tomography, showed a cystic-solid tumor in the pancreas, and it was considered to be a mucinous cystadenoma or cystadenocarcinoma. Pancreatic body-tail resection combined with splenectomy was performed. After the operation, the tumor was pathologically demonstrated to be a pancreatic hemolymphangioma. Although pancreatic hemolymphangioma is rare, we believe that it should be considered in the differential diagnosis of cystic-solid tumors of the pancreas, particularly when there is no sufficient evidence for diagnosing cystadenoma, cystadenocarcinoma or some other relatively common disease of the pancreas.

  15. Relationships between cystic fibrosis transmembrane conductance regulator, extracellular nucleotides and cystic fibrosis.

    PubMed

    Marcet, Brice; Boeynaems, Jean-Marie

    2006-12-01

    Cystic fibrosis (CF) is one of the most common lethal autosomal recessive genetic diseases in the Caucasian population, with a frequency of about 1 in 3000 livebirths. CF is due to a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene encoding the CFTR protein, a cyclic adenosine 5'-monophosphate (cAMP)-regulated chloride channel localized in the apical membrane of epithelial cells. CFTR is a multifunctional protein which, in addition to be a Cl-channel, is also a regulator of multiple ion channels and other proteins. In particular CFTR has been reported to play a role in the outflow of adenosine 5'-triphosphate (ATP) from cells, but this remains controversial. Extracellular nucleotides are signaling molecules that regulate ion transport and mucociliary clearance by acting on P2 nucleotide receptors, in particular the P2Y(2) receptor. Nucleotides activating the P2Y(2) receptor represent thus one pharmacotherapeutic strategy to treat CF disease, via improvement of mucus hydration and mucociliary clearance in airways. Phase II clinical trials have recently shown that aerosolized denufosol (INS37217, Inspire(R)) improves pulmonary function in CF patients: denufosol was granted orphan drug status and phase III trials are planned. Here, we review what is known about the relationship between extracellular nucleotides and CFTR, the role of extracellular nucleotides in epithelial pathophysiology and their putative role as therapeutic agents.

  16. Cancer

    MedlinePlus

    ... Two kinds of lymphocytes can attack and kill cancer cells: T-cells and B-cells. Immunotherapy aims to boost the ability of the T-cell and B-cell lymphocytes to kill cancer. This kind of therapy can also be used ...

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

    PubMed

    Goggolidou, Paraskevi

    2014-01-01

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

  18. [Genetics and nosological classification of renal cystic diseases].

    PubMed

    Izzi, Claudia; Sottini, Laura; Dallera, Nadia; Capistrano, Mariano; Foini, Paolo; Scolari, Francesco

    2010-01-01

    Renal cystic diseases are the major group of inherited renal disorders in humans and a leading cause of end-stage renal disease. Dominant and recessive polycystic kidney disease (ADPKD and ARPKD, respectively) account for most of the clinical conditions. However, nephronophthisis (NPHP), medullary cystic kidney disease (MCKD), and dominant glomerulocystic kidney disease (GCKD) still have a relevant clinical impact, particularly in children. The discovery that the proteins that are defective in ADPKD and ARPKD localize to the primary cilium and the recognition of the role of this organelle in cystogenesis have led to the term ''ciliopathies''. In the last decade, the list of ciliopathies has continued to grow. Analysis of the protein products of the nine NPHP genes (NPHP 1-9) evinced a strong relation between ciliary function and pathogenesis of NPHP. The oral-facial-digital syndrome (OFD) type I, characterized by congenital malformations and cystic kidney disease, was found to result from mutations in the OFD1 gene, which encodes a protein located to the primary cilium. Parallel to these advances, mutations in UMOD, the gene encoding uromodulin, were identified in pedigrees with MCKD2, familial juvenile hyperuricemic nephropathy, and autosomal dominant GCKD. In all these disorders, uromodulin was found to be accumulating in intracellular aggregates, suggesting a common pathogenesis. Taken together, these findings suggest the need for the separation of renal cystic diseases due to UMOD mutations (uromodulin-associated diseases) from renal cystic diseases related to mutation of genes encoding for proteins expressed in the primary cilium (ciliopathies).

  19. Sebaceous carcinoma arising in mature cystic teratoma of ovary.

    PubMed

    An, Hyo Jeong; Jung, Yong Han; Yoon, Hye Kyoung; Jung, Soo Jin

    2013-08-01

    Roughly 1% of mature cystic teratomas undergo malignant transformation. In particular, cutaneous-type adnexal neoplasms may occur in mature cystic teratomas. Sebaceous carcinomas, which arise from mature cystic teratomas, have rarely been observed, with only seven cases previously reported. Here, we present a case of a 69-year-old female who had pelvic pain for two weeks and who subsequently underwent bilateral salpingo-oophorectomy and hysterectomy. Her left ovary showed a unilocular cyst, measuring 22.0 cm in diameter, filled with sebaceous material and a few hairs. A luminally-protruding solid mass measuring 4.0 cm in diameter was also noted. Microscopic findings revealed lobular or diffusely arranged basophilic, atypical sebaceous cells connected to a typical mature cystic teratoma. Tumor cells demonstrated positive immunoreactivity for high molecular weight cytokeratin, cytokeratin 7, cytokeratin 19, epithelial membrane antigen, and carcinoembryonic antigen. Here, we present a case of sebaceous carcinoma arising from a mature cystic teratoma along with a review of previously published reports.

  20. Loss of Cystic Fibrosis Transmembrane Regulator Impairs Intestinal Oxalate Secretion.

    PubMed

    Knauf, Felix; Thomson, Robert B; Heneghan, John F; Jiang, Zhirong; Adebamiro, Adedotun; Thomson, Claire L; Barone, Christina; Asplin, John R; Egan, Marie E; Alper, Seth L; Aronson, Peter S

    2017-01-01

    Patients with cystic fibrosis have an increased incidence of hyperoxaluria and calcium oxalate nephrolithiasis. Net intestinal absorption of dietary oxalate results from passive paracellular oxalate absorption as modified by oxalate back secretion mediated by the SLC26A6 oxalate transporter. We used mice deficient in the cystic fibrosis transmembrane conductance regulator gene (Cftr) to test the hypothesis that SLC26A6-mediated oxalate secretion is defective in cystic fibrosis. We mounted isolated intestinal tissue from C57BL/6 (wild-type) and Cftr(-/-) mice in Ussing chambers and measured transcellular secretion of [(14)C]oxalate. Intestinal tissue isolated from Cftr(-/-) mice exhibited significantly less transcellular oxalate secretion than intestinal tissue of wild-type mice. However, glucose absorption, another representative intestinal transport process, did not differ in Cftr(-/-) tissue. Compared with wild-type mice, Cftr(-/-) mice showed reduced expression of SLC26A6 in duodenum by immunofluorescence and Western blot analysis. Furthermore, coexpression of CFTR stimulated SLC26A6-mediated Cl(-)-oxalate exchange in Xenopus oocytes. In association with the profound defect in intestinal oxalate secretion, Cftr(-/-) mice had serum and urine oxalate levels 2.5-fold greater than those of wild-type mice. We conclude that defective intestinal oxalate secretion mediated by SLC26A6 may contribute to the hyperoxaluria observed in this mouse model of cystic fibrosis. Future studies are needed to address whether similar mechanisms contribute to the increased risk for calcium oxalate stone formation observed in patients with cystic fibrosis.

  1. 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

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

    PubMed

    Dekkers, Johanna F; Wiegerinck, Caroline L; de Jonge, Hugo R; Bronsveld, Inez; Janssens, Hettie M; de Winter-de Groot, Karin M; Brandsma, Arianne M; de Jong, Nienke W M; Bijvelds, Marcel J C; Scholte, Bob J; Nieuwenhuis, Edward E S; van den Brink, Stieneke; Clevers, Hans; van der Ent, Cornelis K; Middendorp, Sabine; Beekman, Jeffrey M

    2013-07-01

    We recently established conditions allowing for long-term expansion of epithelial organoids from intestine, recapitulating essential features of the in vivo tissue architecture. Here we apply this technology to study primary intestinal organoids of people suffering from cystic fibrosis, a disease caused by mutations in CFTR, encoding cystic fibrosis transmembrane conductance regulator. Forskolin induces rapid swelling of organoids derived from healthy controls or wild-type mice, but this effect is strongly reduced in organoids of subjects with cystic fibrosis or in mice carrying the Cftr F508del mutation and is absent in Cftr-deficient organoids. This pattern is phenocopied by CFTR-specific inhibitors. Forskolin-induced swelling of in vitro-expanded human control and cystic fibrosis organoids corresponds quantitatively with forskolin-induced anion currents in freshly excised ex vivo rectal biopsies. Function of the CFTR F508del mutant protein is restored by incubation at low temperature, as well as by CFTR-restoring compounds. This relatively simple and robust assay will facilitate diagnosis, functional studies, drug development and personalized medicine approaches in cystic fibrosis.

  3. A novel case of diabetic muscle necrosis in a patient with cystic fibrosis-related diabetes.

    PubMed

    Chalasani, Sreelatha; Bettadahalli, Shankar S; Bhupathi, Satya V; Aswani, Vijay H

    2013-09-01

    Cystic fibrosis is a recessive autosomal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. Cystic fibrosis-related diabetes (CFRD) is a common comorbidity of cystic fibrosis. Diabetic myonecrosis is a rare self-limited complication of poorly controlled diabetes mellitus that commonly presents with acute, intense pain and swelling of lower extremities and responds well to conservative management. We report the first case of diabetic myonecrosis in a patient with CFRD.

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

    PubMed Central

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

    2016-01-01

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

  5. 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…

  6. Co-Existence of Acinic Cell Carcinoma - Papillary Cystic Variant and Extrapulmonary Tuberculosis - Report of A Case with Brief Review.

    PubMed

    Amita, Krishnappa; Vijayshankar, Shivshankar; Sanjay, Manchaiah

    2015-09-01

    Tuberculosis (TB) and cancer are two lethal diseases causing significant morbidity and mortality in developing countries like India. Co-existence of these two disease lead to diagnostic dielemma among the clinicians. Overlapping clinical manifestations lead to delay in diagnosis. We report a case of acinic cell carcinoma -papillary cystic variant of the salivary gland and extra pulmonary tuberculosis in a young female. We emphasize the importance of the awareness of the co-existence of these two diseases and the role of fine needle aspiration cytology in the initial diagnosis.

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

    PubMed

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

    2015-10-01

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

  8. Lipoprotein metabolism and lipoprotein lipase in severe cystic acne.

    PubMed

    Pigatto, P; Altomare, G F; Negri, M; Finzi, A F; Vigotti, G; Vergani, C

    1985-01-01

    In severe cystic acne we found low levels of high density lipoprotein-cholesterol (HDL-C) and apolipoprotein A (Apo-A) in the presence of normal total lipids. In a larger number of patients, we always observed significantly lower levels of HDL-C and Apo-A than in either age-matched controls or subjects with acne vulgaris. Since lipoprotein lipase is one major determinant of HDL concentration, we assayed the lipase activity in liver and extra-hepatic tissues by the method of Krauss et al. There was highly significant less total and hepatic lipase activity than in age-matched controls. HDL distribution was examined by zonal ultracentrifugation and a decrease in the HDL2 subclass was discovered. Since HDL are inversely correlated to atherosclerosis, cystic acne is one risk factor for atherosclerosis. The linkage between low HDL levels and severe cystic acne should be further investigated.

  9. Clinical features of cystic fibrosis patients with rare genotypes.

    PubMed Central

    Castaldo, G; Rippa, E; Raia, V; Salvatore, D; Massa, C; de Ritis, G; Salvatore, F

    1996-01-01

    We describe the clinical features of seven cystic fibrosis patients from southern Italy who bear rare genotypes: (1) a patient homozygous for the 2183 AA-->G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozygotes either for the 2183 AA-->G mutation or for the I148T mutation, in both instances with the delta F508 mutation; and (2) a patient homozygous for the early nonsense R553X mutation who showed only a moderately severe form of cystic fibrosis. Our results confirm that environmental or genetic factors unrelated to the CF disease contribute significantly to the development of the phenotype. Images PMID:8825054

  10. Pseudomyxoma Retroperitonei: ARare Cause of Retroperitoneal Cystic Mass.

    PubMed

    Al-Qahtani, Hamad Hadi; Asalamah, Saleh; Akeely, Mohammed; Alshakaki, Salman Mohammad

    2016-06-01

    Pseudomyxoma retroperitonei is a rare condition, characterized by accumulation of mucinous material in the retroperitoneal space, originating predominantly from the appendiceal mucinous neoplasms. A72-year-old male patient presented with a history of progressive right side abdominal pain for 5 months with a palpable abdominal mass. Ultrasound, computerized tomography, and magnetic resonance imaging showed large right abdominal multiloculated cystic lesion with heterogeneous echoic contents. Colonoscopy revealed normal mucosa with extramural pressure on the right colon and cecum. He underwent complete excision of the mass along with right hemicolectomy. The cystic mass was containing gelatinous material. Histopathology revealed low grade mucinous neoplasm. Pseudomyxoma retroperitonei should be considered in the differential diagnosis of patient presenting with progressive right side abdominal pain and retroperitoneal cystic mass.

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

    PubMed

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

    2014-01-01

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

  12. Antiinflammatory therapies for cystic fibrosis: past, present, and future.

    PubMed

    Prescott, William A; Johnson, Cary E

    2005-04-01

    Inflammation is a major component of the vicious cycle characterizing cystic fibrosis pulmonary disease. If untreated, this inflammatory process irreversibly damages the airways, leading to bronchiectasis and ultimately respiratory failure. Antiinflammatory drugs for cystic fibrosis lung disease appear to have beneficial effects on disease parameters. These agents include oral corticosteroids and ibuprofen, as well as azithromycin, which, in addition to its antimicrobial effects, also possesses antiinflammatory properties. Inhaled corticosteroids, colchicine, methotrexate, montelukast, pentoxifylline, nutritional supplements, and protease replacement have not had a significant impact on the disease. Therapy with oral corticosteroids, ibuprofen, and fish oil is limited by adverse effects. Azithromycin appears to be safe and effective, and is thus the most promising antiinflammatory therapy available for patients with cystic fibrosis. Pharmacologic therapy with antiinflammatory agents should be started early in the disease course, before extensive irreversible lung damage has occurred.

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

    PubMed

    Grigoriadis, Charalampos; Tympa, Aliki; Theodoraki, Kassiani

    2015-03-01

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

  14. 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

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

    PubMed

    Zhang, Zhe; Chen, Jue

    2016-12-01

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

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

    PubMed

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

    2008-02-01

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

  17. Cystic Fibrosis in the African Diaspora.

    PubMed

    Stewart, Cheryl; Pepper, Michael S

    2017-01-01

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

  18. Gastroesophageal Reflux Disease in Children with Cystic Fibrosis.

    PubMed

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

    2015-01-01

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

  19. Novel molecular approaches to cystic fibrosis gene therapy

    PubMed Central

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

    2005-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  1. Retreatment of Recurrent Cystic Craniopharyngioma With Chromic Phosphorus P 32

    PubMed Central

    Kumar, P.P.; Good, R.R.; Skultety, F.M.; Jones, E.O.; Chu, W.K.

    1986-01-01

    A cystic craniopharyngioma in a two-year-old boy recurred six months after surgery and postoperative external-beam radiotherapy. Successful retreatment was accomplished with radioisotope injection of 0.5 mCi of chromic phosphorus P 32 into the intracranial cyst, which delivered approximately 300.00 Gy to the cyst wall. The patient's symptoms were relieved, and he is without evidence of disease or cystic fluid accumulation four years after intracavitary 32P irradiation. ImagesFigure 1Figure 2Figure 3 PMID:3735454

  2. An incidental finding of carcinoid tumor of the cystic duct.

    PubMed

    Lim, Hoang U; Chan, Cyrus C; Knotts, F Barry

    2013-04-04

    Cystic duct carcinoids are extremely rare tumors. We present a 58-year-old female with carcinoid tumor found within the cystic duct margin following laparoscopic cholecystectomy. She subsequently underwent surgical resection with a Roux-en-Y hepaticojejunostomy. No standard guidelines currently exist regarding surgical excision of these rare tumors. Therefore, we conducted a thorough review of the literature to recommend complete oncologic surgical resection with re-establishment of biliary continuity as the mainstay of definitive treatment; adjuvant therapy currently remains investigational. Long-term prognosis is good with this approach.

  3. An incidental finding of carcinoid tumor of the cystic duct

    PubMed Central

    Lim, Hoang U.; Chan, Cyrus C.; Knotts, F. Barry

    2013-01-01

    Cystic duct carcinoids are extremely rare tumors. We present a 58-year-old female with carcinoid tumor found within the cystic duct margin following laparoscopic cholecystectomy. She subsequently underwent surgical resection with a Roux-en-Y hepaticojejunostomy. No standard guidelines currently exist regarding surgical excision of these rare tumors. Therefore, we conducted a thorough review of the literature to recommend complete oncologic surgical resection with re-establishment of biliary continuity as the mainstay of definitive treatment; adjuvant therapy currently remains investigational. Long-term prognosis is good with this approach. PMID:24964431

  4. Fluoroquinolones in the treatment of bronchopulmonary disease in cystic fibrosis

    PubMed Central

    2012-01-01

    Fluoroquinolones are commonly used to treat lung infections in those with cystic fibrosis. Patients with cystic fibrosis are susceptible to lung infection with common bacteria such as Staphylococcus aureus and Haemophilus influenzae, but also are prone to infection by opportunistic bacteria, including Pseudomonas aeruginosa. The good oral bioavailability and broad antimicrobial spectrum of activity, including anti-pseudomonal properties make this class of antimicrobial attractive. We review the evidence assessing the use of fluoroquinolones in the context of preventing and eradicating early lung infection and in managing chronic lung infection and pulmonary exacerbations. The safety of fluoroquinolones and the use of newer agents in the class is also discussed. PMID:22968160

  5. The Approach to Pseudomonas aeruginosa in Cystic Fibrosis.

    PubMed

    Talwalkar, Jaideep S; Murray, Thomas S

    2016-03-01

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

  6. Australian standards of care for cystic fibrosis-related diabetes.

    PubMed

    Middleton, Peter G; Wagenaar, Monica; Matson, Angela G; Craig, Maria E; Holmes-Walker, Deborah Jane; Katz, Tamarah; Hameed, Shihab

    2014-02-01

    Multiple guidelines have been published over the last few years for the diagnosis and management of cystic fibrosis (CF) and cystic fibrosis related diabetes (CFRD), although some of the recommendations are based on extrapolation from other forms of diabetes and/or expert opinions. This document seeks to combine the guidelines to provide an Australian approach to the management of CFRD and establish the guidelines within the Australian CF Standards of Care. It is intended that this document will provide assistance to doctors, nurses, dietitians, physiotherapists, diabetes educators and CF patients concerning the issues surrounding CFRD, and will be reviewed and updated in 2016.

  7. Pancreatic solid cystic desmoid tumor: case report and literature review.

    PubMed

    Xu, Bin; Zhu, Ling-Hua; Wu, Jia-Guo; Wang, Xian-Fa; Matro, Erik; Ni, Jun-Jun

    2013-12-14

    Desmoid tumors (DTs) are nonmetastatic, locally aggressive neoplasms with a high rate of postoperative recurrence. Pancreatic DTs are especially rare; only a few cases have been reported to date. This paper describes a case of a sporadic cystic DT of the pancreas managed successfully with central pancreatectomy, with no signs of recurrence 40 mo after surgery. According to the literature, this is the first reported case in China of a pancreatic DT presenting as a solid cystic lesion, as well as the first pancreatic DT managed with central pancreatectomy and pancreaticogastrostomy. We report the case for its rarity and emphasize disease management by concerted application of clinical, pathological, radiological and immunohistochemical analyses.

  8. 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

  9. Cancer

    MedlinePlus

    ... weaken. Talk with family, friends, or a support group about your feelings. Work with your health care providers throughout your treatment. Helping yourself can make you feel more in control. Support Groups The diagnosis and treatment of cancer often causes ...

  10. Hereditary pancreatic cancer: a clinical perspective.

    PubMed

    Greer, Julia B; Lynch, Henry T; Brand, Randall E

    2009-01-01

    Pancreatic cancer is an extraordinarily deadly disease and is responsible for over 220,000 deaths worldwide each year. One of the greatest risk factors for developing pancreatic cancer is a positive family history. Hereditary pancreatitis patients have a greatly elevated pancreatic cancer risk and individuals with cystic fibrosis may rarely develop this cancer, but often at very young ages. Various genetically linked cancer syndromes have been associated with pancreatic cancer in mutation-positive family members. Finally, familial pancreatic cancer-defined as families with two or more first-degree relatives who have pancreatic cancer but do not have a known cancer syndrome-is a known entity whose disease-causing mutation remains unidentified. This article describes research to date on hereditary pancreatic cancer, addresses how best clinicians should recognise hereditary forms of pancreatic cancer and explains the emotional burden of discovering a potentially lethal mutation. Many controversies and unanswered questions in hereditary pancreatic cancer remain.

  11. Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

    PubMed

    Fanen, P; Clain, J; Labarthe, R; Hulin, P; Girodon, E; Pagesy, P; Goossens, M; Edelman, A

    1999-06-11

    A number of disorders related to cystic fibrosis have been described since the cloning of the cystic fibrosis gene, including infertility due to the congenital bilateral absence of the vas deferens. We have identified, in several patients, complex cystic fibrosis transmembrane conductance regulator genotypes like double-mutant alleles. We have now analyzed the structure-function relationships of one of these mutants, R74W-D1270N cystic fibrosis transmembrane conductance regulator, expressed in HeLa cells, to evaluate the contribution of each mutation in the phenotype. We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype. The combination of the two produced a more severe effect on the chloride conductance pathway as well as on the phenotype.

  12. 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.

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

    PubMed Central

    Ferahman, Sina; Demiryas, Süleyman; Samanci, Cesur

    2016-01-01

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

  14. Cystic Dilatation of the Parotid Duct of a Goat

    PubMed Central

    Slocombe, R. F.

    1980-01-01

    Cystic dilatation of the parotid duct of a goat was diagnosed by exploratory surgery and analysis of cyst contents. The cyst and its associated salivary gland were surgically removed. This case is compared with the more common salivary mucocele. ImagesFigure 1. PMID:7397617

  15. Pathologic Review of Cystic and Cavitary Lung Diseases

    PubMed Central

    Kim, Na Rae

    2012-01-01

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

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

    PubMed Central

    2011-01-01

    Background Mycobacterium chimaera is a recently described species within the Mycobacterium avium complex. Its pathogenicity in respiratory tract infection remains disputed. It has never been isolated during cystic fibrosis respiratory tract infection. Case presentation An 11-year-old boy of Asian ethnicity who was born on Réunion Island presented to our hospital with cystic fibrosis after a decline in his respiratory function over the course of seven years. We found that the decline in his respiratory function was correlated with the persistent presence of a Mycobacterium avium complex organism further identified as M. chimaera. Conclusion Using sequencing-based methods of identification, we observed that M. chimaera organisms contributed equally to respiratory tract infections in patients with cystic fibrosis when compared with M. avium subsp. hominissuis isolates. We believe that M. chimaera should be regarded as an emerging opportunistic respiratory pathogen in patients with cystic fibrosis, including young children, and that its detection warrants long-lasting appropriate anti-mycobacterial treatment to eradicate it. PMID:21939536

  17. Diffusion-weighted magnetic resonance imaging in cystic renal masses

    PubMed Central

    Balyemez, Fikret; Aslan, Ahmet; Inan, Ibrahim; Ayaz, Ercan; Karagöz, Vildan; Özkanli, Sıdıka Şeyma; Acar, Murat

    2017-01-01

    Introduction: We aimed to introduce the diagnostic value of diffusion-weighted (DWI) magnetic resonance imaging (MRI) for distinguishing benign and malignant renal cystic masses. Methods: Abdominal DWI-MRIs of patients with Bosniak categories 2F, 3, and 4 cystic renal masses were evaluated retrospectively. Cystic masses were assigned as benign or malignant according to histopathological or followup MRI findings and compared with apparent diffusion coefficient (ADC) values. Results: There were 30 patients (18 males and 12 females, mean age was 59.23 ± 12.08 years [range 38–83 years]) with cystic renal masses (eight Bosniak category 2F, 12 Bosniak category 3, 10 Bosniak category 4). Among them, 14 cysts were diagnosed as benign and 16 as malignant by followup imaging or histopathological findings. For the malignant lesions, the mean ADC values were lower than for benign lesions (p=0.001). An ADC value of ≤2.28 ×10−6 mm2/s or less had a sensitivity of 75% and a specificity of 92.86% for detecting malignancy. Conclusions: ADC can improve the diagnostic performance of MRI in the evaluation of complex renal cysts when used together with conventional MRI sequences. PMID:28163806

  18. 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…

  19. New and emerging targeted therapies for cystic fibrosis.

    PubMed

    Quon, Bradley S; Rowe, Steven M

    2016-03-30

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

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

    ERIC Educational Resources Information Center

    Shaw, William M., Jr.; And Others

    1991-01-01

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

  1. Vocational Rehabilitation of the Person with Cystic Fibrosis.

    ERIC Educational Resources Information Center

    Isralsky, Marc; And Others

    1979-01-01

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

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

    ERIC Educational Resources Information Center

    Kashani, Javad H.; And Others

    1988-01-01

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

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

    PubMed

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

    2013-11-01

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

  4. [CFTR and ENaC functions in cystic fibrosis].

    PubMed

    Palma, Alejandra G; Kotsias, Basilio A; Marino, Gabriela I

    2014-01-01

    Cystic fibrosis is caused by dysfunction or lack of the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel that has a key role in maintaining ion and water homoeostasis in different tissues. CFTR is a cyclic AMP-activated Cl- channel found in the apical and basal plasma membrane of airway, intestinal, and exocrine epithelial cells. One of CFTR's primary roles in the lungs is to maintain homoeostasis of the airway surface liquid layer through its function as a chloride channel and its regulation of the epithelial sodium channel ENaC. More than 1900 CFTR mutations have been identified in the cftr gene. The disease is characterized by viscous secretions of the exocrine glands in multiple organs and elevated levels of sweat sodium chloride. In cystic fibrosis, salt and fluid absorption is prevented by the loss of CFTR and ENaC is not appropriately regulated, resulting in increased fluid and sodium resorption from the airways and formation of a contracted viscous surface liquid layer. In the sweat glands both Na+ and Cl- ions are retained in the lumen, causing significant loss of electrolytes during sweating. Thus, elevated sweat NaCl concentration is the basis of the classic pilocarpine-induced sweat test as a diagnostic feature of the disease. Here we discuss the ion movement of Cl- and Na+ ions in two tissues, sweat glands and in the air surface as well as the role of ENaC in the pathogenesis of cystic fibrosis.

  5. 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.

  6. 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…

  7. An approach to cystic kidney diseases: the clinician's view.

    PubMed

    Kurschat, Christine E; Müller, Roman-Ulrich; Franke, Mareike; Maintz, David; Schermer, Bernhard; Benzing, Thomas

    2014-12-01

    Advances in molecular genetics have led to the identification of more than 70 different genes involved in the development of cystic kidney diseases. Most of these diseases are rare, and interpreting the resultant plethora of disease-causing mutations requires a methodical and meticulous approach to differential diagnosis. In this Review we discuss a clinical approach to the diagnosis of cystic kidney diseases in adults, for use by nephrologists. This approach is based upon a thorough clinical evaluation, which considers both kidney phenotype and extrarenal manifestations of the underlying disorder, in combination with genetic testing in selected patients. In our view, cystic kidney disease can (in the majority of patients) be reliably classified on the basis of clinical findings. We therefore propose that defining clinical situations to precipitate the initiation of genetic testing is mandatory and cost-effective. New techniques such as next-generation sequencing will facilitate the diagnosis of cystic kidney diseases in the future, increasing diagnostic safety in a subset of patients. In renal tumour syndromes, genetic testing is warranted.

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

    PubMed Central

    Gilligan, P H

    1991-01-01

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

  9. 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

  10. Non-cystic fibrosis bronchiectasis: review and recent advances

    PubMed Central

    Livnat, Galit

    2009-01-01

    Bronchiectasis is an abnormal dilatation of bronchi and bronchioles associated with repeated cycles of airway infection and inflammation. This review will focus on non-cystic fibrosis bronchiectasis in children, with regard to etiology, diagnosis, treatment options, and recent advances. PMID:20948713

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

    PubMed

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

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease such as cystic fibrosis (CF). Pulmonary disease caused by NTM has emerged as a major threat to the health of individuals with CF but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) convened an expert panel of specialists to develop consensus recommendations for the screening, investigation, diagnosis and management of NTM pulmonary disease in individuals with CF. Nineteen experts were invited to participate in the recommendation development process. Population, Intervention, Comparison, Outcome (PICO) methodology and systematic literature reviews were employed to inform draft recommendations. An anonymous voting process was used by the committee to reach consensus. All committee members were asked to rate each statement on a scale of: 0, completely disagree, to 9, completely agree; with 80% or more of scores between 7 and 9 being considered 'good' agreement. Additionally, the committee solicited feedback from the CF communities in the USA and Europe and considered the feedback in the development of the final recommendation statements. Three rounds of voting were conducted to achieve 80% consensus for each recommendation statement. Through this process, we have generated a series of pragmatic, evidence-based recommendations for the screening, investigation, diagnosis and treatment of NTM infection in individuals with CF as an initial step in optimising management for this challenging condition.

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

    PubMed Central

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

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease such as cystic fibrosis (CF). Pulmonary disease caused by NTM has emerged as a major threat to the health of individuals with CF but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS) convened an expert panel of specialists to develop consensus recommendations for the screening, investigation, diagnosis and management of NTM pulmonary disease in individuals with CF. Nineteen experts were invited to participate in the recommendation development process. Population, Intervention, Comparison, Outcome (PICO) methodology and systematic literature reviews were employed to inform draft recommendations. An anonymous voting process was used by the committee to reach consensus. All committee members were asked to rate each statement on a scale of: 0, completely disagree, to 9, completely agree; with 80% or more of scores between 7 and 9 being considered ‘good’ agreement. Additionally, the committee solicited feedback from the CF communities in the USA and Europe and considered the feedback in the development of the final recommendation statements. Three rounds of voting were conducted to achieve 80% consensus for each recommendation statement. Through this process, we have generated a series of pragmatic, evidence-based recommendations for the screening, investigation, diagnosis and treatment of NTM infection in individuals with CF as an initial step in optimising management for this challenging condition. PMID:26666259

  13. Synthesis of sulfated oligosaccharides by cystic fibrosis trachea epithelial cells.

    PubMed

    Mendicino, J; Sangadala, S

    1999-11-01

    The mucin glycoproteins in tracheal mucus of patients with cystic fibrosis is more highly sulfated than the corresponding secretions from healthy individuals [16]. In order to further characterize these differences in sulfation and possibly also glycosylation patterns, we compared the structures of sulfated mucin oligosaccharides synthesized by continuously cultured human tracheal cells transformed by simian virus 40. The synthesis of highly sulfated oligosaccharide chains in mucins secreted by normal human epithelial and submucosal cell lines were compared with mucins formed by cystic fibrosis tracheal epithelial and submucosal cell lines. The epithelial cell lines from cystic fibrosis trachea showed a higher rate of sulfate uptake and a significantly higher rate of synthesis and sulfation of high molecular weight chains. Mucins synthesized by each cell line in the presence of 35SO4 were isolated and oligosaccharide chains were released by beta-elimination and separated by ion exchange chromatography and gel filtration. The sulfated high molecular weight chains synthesized by the cystic fibrosis cell lines were characterized by methylation analysis and sequential glycosidase digestion before and after desulfation. Carbohydrate analysis yielded Fuc, Gal and GlcNAc in a ratio of 1:2:2.2 and only one galactosaminitol residue for about every 150-200 sugar residues present. The average molecular size of oligosaccharide chains in these fractions was between 30,000-40,000 daltons. These studies show that increased sulfation of oligosaccharides in mucins synthesized by cells from cystic fibrosis trachea is accompanied by a significant increase in the extension of a basic branched structure present in many of the lower molecular weight oligosaccharides.

  14. Molecular Characterization of Achromobacter Isolates from Cystic Fibrosis and Non-Cystic Fibrosis Patients in Madrid, Spain

    PubMed Central

    Barrado, Laura; Brañas, Patricia; Orellana, M. Ángeles; Martínez, M. Teresa; García, Gloria; Otero, Joaquín R.

    2013-01-01

    Multilocus sequence typing and nrdA sequence analysis identified 6 different species or genogroups and 13 sequence types (STs) among 15 Achromobacter isolates from cystic fibrosis (CF) patients and 7 species or genogroups and 11 STs among 11 isolates from non-CF patients. Achromobacter xylosoxidans was the most frequently isolated species among CF patients. PMID:23536401

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

    PubMed

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

    2008-11-01

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

  16. European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre.

    PubMed

    Conway, Steven; Balfour-Lynn, Ian M; De Rijcke, Karleen; Drevinek, Pavel; Foweraker, Juliet; Havermans, Trudy; Heijerman, Harry; Lannefors, Louise; Lindblad, Anders; Macek, Milan; Madge, Sue; Moran, Maeve; Morrison, Lisa; Morton, Alison; Noordhoek, Jacquelien; Sands, Dorota; Vertommen, Anneke; Peckham, Daniel

    2014-05-01

    A significant increase in life expectancy in successive birth cohorts of people with cystic fibrosis (CF) is a result of more effective treatment for the disease. It is also now widely recognized that outcomes for patients cared for in specialist CF Centres are better than for those who are not. Key to the effectiveness of the specialist CF Centre is the multidisciplinary team (MDT), which should include consultants, clinical nurse specialist, microbiologist, physiotherapist, dietitian, pharmacist, clinical psychologist, social worker, clinical geneticist and allied healthcare professionals, all of whom should be experienced in CF care. Members of the MDT are also expected to keep up to date with developments in CF through continued professional development, attendance at conferences, auditing and involvement in research. Specialists CF Centres should also network with other Centres both nationally and internationally, and feed Centre data to registries in order to further the understanding of the disease. This paper provides a framework for the specialist CF Centre, including the organisation of the Centre and the individual roles of MDT members, as well as highlighting the value of CF organisations and disease registries.

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

    PubMed

    Bombieri, Cristina; Seia, Manuela; Castellani, Carlo

    2015-04-01

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

  18. Chest CT Features of Cystic Fibrosis in Korea: Comparison with Non-Cystic Fibrosis Diseases

    PubMed Central

    Yang, So Yeon; Cha, Min Jae; Kim, Tae Jung; Kim, Tae Sung; Yoon, Hyun Jung

    2017-01-01

    Objective Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. Materials and Methods From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. Results Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). Conclusion Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features. PMID:28096734

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

    PubMed Central

    Schmidt, Béla Z; Haaf, Jérémy B; Leal, Teresinha; Noel, Sabrina

    2016-01-01

    Mutations of the CFTR gene cause cystic fibrosis (CF), the most common recessive monogenic disease worldwide. These mutations alter the synthesis, processing, function, or half-life of CFTR, the main chloride channel expressed in the apical membrane of epithelial cells in the airway, intestine, pancreas, and reproductive tract. Lung disease is the most critical manifestation of CF. It is characterized by airway obstruction, infection, and inflammation that lead to fatal tissue destruction. In spite of great advances in early and multidisciplinary medical care, and in our understanding of the pathophysiology, CF is still considerably reducing the life expectancy of patients. This review highlights the current development in pharmacological modulators of CFTR, which aim at rescuing the expression and/or function of mutated CFTR. While only Kalydeco® and Orkambi® are currently available to patients, many other families of CFTR modulators are undergoing preclinical and clinical investigations. Drug repositioning and personalized medicine are particularly detailed in this review as they represent the most promising strategies for restoring CFTR function in CF. PMID:27703398

  20. Cystic echinococcosis in the Arctic and Sub-Arctic.

    PubMed

    Rausch, R L

    2003-01-01

    The northern biotype of Echinococcus granulosus occurs throughout the holarctic zones of tundra and taiga, from eastern Fennoscandia to the Bering Strait in Eurasia and in North America from arctic Alaska approximately to the northern border of the United States. The cycle of the cestode is complex in taiga at lower latitudes, because of the greater diversity of potential hosts. In the Arctic and Subarctic, however, four patterns of predator/prey relationships may be discerned. Two natural cycles involve the wolf and wild reindeer and the wolf and elk (moose), respectively. Where deer of the two species coexist, both are prey of the wolf; the interactions of the wolf and elk are here described on the basis of long-term observations made on Isle Royale (in Lake Superior near the southern limit of taiga), where only the wolf and elk serve as hosts for E. granulosus. A synanthropic cycle involving herding-dogs and domesticated reindeer caused hyperendemicity of cystic echinococcosis in arctic Eurasia, mainly in northeastern Siberia. The 4th pattern, a semi-synanthropic cycle, formerly existed in Alaska, wherein sled-dogs of the indigenous hunters became infected by consuming the lungs of wild reindeer. The sequence of changes in life-style inherent in the process of acculturation affected the occurrence of cystic echinococcosis among nomadic Iñupiat in arctic Alaska. When those people became sedentary, the environs of their early villages soon became severely contaminated by faeces of dogs, and cases of cystic echinococcosis occurred. Compared to cystic echinococcosis caused by E. granulosus adapted to synanthropic hosts (dog and domestic ungulates), the infection produced by the northern biotype is relatively benign. Nearly all diagnosed cases of cystic echinococcosis (> 300) in Alaska have occurred in indigenous people; only one fatality has been recorded (in a non-indigenous person). After sled-dogs were replaced by machines, cases have become rare in Alaska. A

  1. Removal of a malignant cystic brain tumor utilizing pyoktanin blue and fibrin glue: Technical note

    PubMed Central

    Hayashi, Nobuhide; Sasaki, Takahiro; Tomura, Nagatsuki; Okada, Hideo; Kuwata, Toshikazu

    2017-01-01

    Background: The leakage of cystic fluid during metastatic cystic brain tumor resection may cause tumor dissemination. When the cyst wall is thin, excision without removing the wall is often difficult. Methods: We were able to perform an en bloc resection of a cystic malignant brain tumor after aspirating the cystic fluid, injecting pyoktanin blue into the cyst to stain the cyst walls, and solidifying the empty cyst cavity by filling it with fibrin glue. Results: Pyoktanin blue readily stained the thin cystic walls and enabled visualization of mural damage. Solidification of the tumor made it easier to grasp and facilitated the dissection of tumor margins. Conclusions: This method has the potential to become a useful technique for the resection of malignant cystic brain tumors. PMID:28303204

  2. Tonsils and Adenoids

    MedlinePlus

    ... an ENT News About Us Our Campaigns Foundation Governance Diversity Honorary Awards & Lectures Specialty Society Advisory Council ... Disclosure Form News About Us Our Campaigns Foundation Governance Diversity Honorary Awards & Lectures Specialty Society Advisory Council ...

  3. 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 ...

  4. Lymphocyte transformation in subjects with nodulo cystic acne.

    PubMed

    Puhvel, S M; Amirian, D; Weintraub, J; Reisner, R M

    1977-08-01

    Patients with severe nodulo-cystic acne are known to have elevated serum antibody levels and increased immediate hypersensitivity reactions to Propionibacterium acnes. This organism is the predominant bacterium in normal pilosebaceous follicles of human skin, and can be consistently isolated from pustular lesions in acne. Previously it had been observed that delayed cutaneous hypersensitivity reactions to P. acnes were negative in patients with acne. The present study investigated the proliferative response of lymphocytes from patients with nodulo-cystic acne to phytohaemagglutinin (PHA) and P. acnes antigen stimulation. The response to PHA stimulation was within normal limits. The response to P. acnes antigen showed a significant increase over control values obtained by testing lymphocytes from acne-free subjects. Thus cell mediated immunity to P. acnes may be present in subjects with severe inflammatory acne. These findings raise the possibility that reactions to P. acnes may contribute to intensifying the inflammatory response in acne lesions.

  5. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    PubMed

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  6. An imported case of cystic echinococcosis in the liver.

    PubMed

    Ahn, Keun Soo; Hong, Sung-Tae; Kang, Yu Na; Kwon, Jung Hyeok; Kim, Mi Jeong; Park, Tae Jun; Kim, Yong Hoon; Lim, Tae Jin; Kang, Koo Jeong

    2012-12-01

    A 25-year-old Uzbek male presented with right upper abdominal pain for 20 days. On radiologic studies, a huge cystic mass was noticed in the right liver which was suspected as parasitic. The patient received right hepatic segmentectomy (segment 7), and the surgically resected mass was confirmed as cystic echinococcosis (CE), measuring 10.5 cm in its diameter. The inner surface of the cyst was bile-stained. The patient was discharged on the 8th hospital day, and was rechecked 6 months after the surgical intervention without any evidence of recurrence. The present report describes findings of an imported case of CE which represented ultrasound images of the 'ball of wool'.

  7. Venous cystic adventitial disease presenting as an enlarging groin mass.

    PubMed

    Scott, Mark F; Gavin, Timothy; Levin, Steven

    2014-02-01

    Venous cystic adventitial disease is an exceedingly rare vascular disorder, with 12 cases reported in the past decade. A 60-year-old woman presented with a painful, palpable groin mass without leg swelling. She was initially thought to have a nonreducible inguinal hernia. A computed tomography scan was obtained that revealed a cystic mass involving the right common femoral vein. Previous imaging revealed that the mass had enlarged over time. In the operating room, the cyst wall was excised without compromising vein integrity. The patient had an uneventful recovery and her pain resolved. We review the presentation, diagnosis, and treatment of this condition. We believe that the rapid evolution of this lesion suggests that an unknown inciting factor triggers its onset and growth.

  8. Cystic fibrosis transmembrane conductance regulator expression in human hypothalamus.

    PubMed

    Mulberg, A E; Weyler, R T; Altschuler, S M; Hyde, T M

    1998-01-05

    We have previously characterized the expression of the cystic fibrosis transmembrane conductance regulator protein (CFTR) gene, mRNA and protein in rat brain with reverse transcriptase (RT)-PCR amplification, in situ hybridization and immunocytochemistry. We now report that the CFTR mRNA is expressed in the human anterior hypothalamus, an area involved in regulation of appetite, resting energy expenditure and sexual differentiation. Expression of CFTR in neurons localized to this region may elucidate the pathogenesis of other non-pulmonary manifestations of cystic fibrosis which commonly are observed in children with CF, including congenital absence of the vas deferens. Neuron-specific expression of CFTR in brain may be involved in the regulation of homeostatic functions including reproductive function and fertility through effects on neurosecretion, i.e. GnRH release. Dysregulation of normal neuropeptide vesicle trafficking by mutant CFTR in brain my lead to alteration in physiological function.

  9. Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis

    PubMed Central

    Dey, Isha; Shah, Kalpit; Bradbury, Neil A

    2016-01-01

    The recent FDA approval of two drugs to treat the basic defect in cystic fibrosis has given hope to patients and their families battling this devastating disease. Over many years, with heavy financial investment from Vertex Pharmaceuticals and the Cystic Fibrosis Foundation, pre-clinical evaluation of thousands of synthetic drugs resulted in the production of Kalydeco and Orkambi. Yet, despite the success of this endeavor, many other compounds have been proposed as therapeutic agents in the treatment of CF. Of note, several of these compounds are naturally occurring, and are present in spices from the grocery store and over the counter preparations in health food stores. In this short review, we look at three such compounds, genistein, curcumin, and resveratrol, and evaluate the scientific support for their use as therapeutic agents in the treatment of patients with CF. PMID:27081574

  10. Analysis of 16 cystic fibrosis mutations in Mexican patients

    SciTech Connect

    Villalobos-Torres, C.; Rojas-Martinez, A.; Barrera-Saldana, H.A.

    1997-04-14

    We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation AF508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot with allele-specific oligonucleotide probes to detect 15 additional common mutations in the Caucasian population. A frequency of 45% for AF508 was found, making it the most common in our sample of Mexican patients. Another five mutations (G542X, 3849 + 10 kb C{r_arrow}T, N1303K, S549N, and 621 + 1 G{r_arrow}T) were detected, and these accounted for 11.25%. The remaining mutations (43.75%) were undetectable with the methodology used. 20 refs., 2 tabs.

  11. Multifunctional superparamagnetic nanoparticles for enhanced drug transport in cystic fibrosis

    NASA Astrophysics Data System (ADS)

    Armijo, Leisha M.; Brandt, Yekaterina I.; Rivera, Antonio C.; Cook, Nathaniel C.; Plumley, John B.; Withers, Nathan J.; Kopciuch, Michael; Smolyakov, Gennady A.; Huber, Dale L.; Smyth, Hugh D.; Osinski, Marek

    2012-10-01

    Iron oxide colloidal nanoparticles (ferrofluids) are investigated for application in the treatment of cystic fibrosis lung infections, the leading cause of mortality in cystic fibrosis patients. We investigate the use of iron oxide nanoparticles to increase the effectiveness of administering antibiotics through aerosol inhalation using two mechanisms: directed particle movement in the presence of an inhomogeneous static external magnetic field and magnetic hyperthermia. Magnetic hyperthermia is an effective method for decreasing the viscosity of the mucus and biofilm, thereby enhancing drug, immune cell, and antibody penetration to the affected area. Iron oxide nanoparticles of various sizes and morphologies were synthesized and tested for specific losses (heating power). Nanoparticles in the superparamagnetic to ferromagnetic size range exhibited excellent heating power. Additionally, iron oxide / zinc selenide core/shell nanoparticles were prepared, in order to enable imaging of the iron oxide nanoparticles. We also report on synthesis and characterization of MnSe/ZnSeS alloyed quantum dots.

  12. Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences

    PubMed Central

    McElvaney, Noel G.

    2016-01-01

    Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resultant characteristic ion transport defect results in decreased mucociliary clearance, bacterial colonisation, and chronic neutrophil-dominated inflammation. Much knowledge surrounding the pathophysiology of the disease has been gained through the generation of animal models, despite inherent limitations in each. The failure of certain mouse models to recapitulate the phenotypic manifestations of human disease has initiated the generation of larger animals in which to study CF, including the pig and the ferret. This review will summarise the basic phenotypes of three animal models and describe the contributions of such animal studies to our current understanding of CF. PMID:27340661

  13. Neonatal orchitis mimicking cystic dysplasia of the testis.

    PubMed

    Martin, George L; Cassell, Ian L S; deMello, Daphne E; Ritchey, Michael L

    2010-12-01

    Neonatal orchitis is an extremely rare disease, usually related to a congenital genitourinary anomaly. We present a 36 weeks' gestation infant who presented at 3 days old with a firm and enlarged right testicle. Testicular US revealed a heterogeneous right testicle with numerous cystic spaces as well as decreased testicular blood flow. The clinical concerns included testicular tumor and cystic dysplasia of the testis because of concurrent renal dysplasia. The scrotal/testicular area was without tenderness or overlying erythema. Radical inguinal orchiectomy revealed diffuse gram-negative orchitis.This case represents an atypical presentation of orchitis. This entity should be added to the differential diagnoses of testicular mass in the neonate even in the absence of physical findings suggestive of infection.

  14. Airway epithelial control of Pseudomonas aeruginosa infection in cystic fibrosis

    PubMed Central

    Campόdonico, Victoria L; Gadjeva, Mihaela; Paradis-Bleau, Catherine; Uluer, Ahmet; Pier, Gerald B

    2013-01-01

    Defective expression or function of the cystic fibrosis transmembrane conductance regulator (CFTR) underlies the hypersusceptibility of cystic fibrosis (CF) patients to chronic airway infections, particularly with Pseudomonas aeruginosa. CFTR is involved in the specific recognition of P. aeruginosa, thereby contributing to effective innate immunity and proper hydration of the airway surface layer (ASL). In CF, the airway epithelium fails to initiate an appropriate innate immune response, allowing the microbe to bind to mucus plugs that are then not properly cleared because of the dehydrated ASL. Recent studies have identified numerous CFTR-dependent factors that are recruited to the epithelial plasma membrane in response to infection and that are needed for bacterial clearance, a process that is defective in CF patients hypersusceptible to infection with this organism. PMID:18262467

  15. Progress in cystic fibrosis and the CF Therapeutics Development Network

    PubMed Central

    Rowe, Steven M; Borowitz, Drucy S; Burns, Jane L; Clancy, John P; Donaldson, Scott H; Retsch-Bogart, George; Sagel, Scott D; Ramsey, Bonnie W

    2013-01-01

    Cystic fibrosis (CF), the most common life-shortening genetic disorder in Caucasians, affects approximately 70 000 individuals worldwide. In 1998, the Cystic Fibrosis Foundation (CFF) launched the CF Therapeutics Development Network (CF-TDN) as a central element of its Therapeutics Development Programme. Designed to accelerate the clinical evaluation of new therapies needed to fulfil the CFF mission to control and cure CF, the CF-TDN has conducted 75 clinical trials since its inception, and has contributed to studies as varied as initial safety and proof of concept trials to pivotal programmes required for regulatory approval. This review highlights recent and significant research efforts of the CF-TDN, including a summary of contributions to studies involving CF transmembrane conductance regulator (CFTR) modulators, airway surface liquid hydrators and mucus modifiers, anti-infectives, anti-inflammatories, and nutritional therapies. Efforts to advance CF biomarkers, necessary to accelerate the therapeutic goals of the network, are also summarised. PMID:22960984

  16. ATPase activity of the cystic fibrosis transmembrane conductance regulator.

    PubMed

    Li, C; Ramjeesingh, M; Wang, W; Garami, E; Hewryk, M; Lee, D; Rommens, J M; Galley, K; Bear, C E

    1996-11-08

    The gene mutated in cystic fibrosis codes for the cystic fibrosis transmembrane conductance regulator (CFTR), a cyclic AMP-activated chloride channel thought to be critical for salt and water transport by epithelial cells. Plausible models exist to describe a role for ATP hydrolysis in CFTR channel activity; however, biochemical evidence that CFTR possesses intrinsic ATPase activity is lacking. In this study, we report the first measurements of the rate of ATP hydrolysis by purified, reconstituted CFTR. The mutation CFTRG551D resides within a motif conserved in many nucleotidases and is known to cause severe human disease. Following reconstitution the mutant protein exhibited both defective ATP hydrolysis and channel gating, providing direct evidence that CFTR utilizes ATP to gate its channel activity.

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

    PubMed

    Gayer, Debra; Ganong, Lawrence

    2006-11-01

    The purpose of this investigation is to examine differences in the experiences of mothers of children with cystic fibrosis who are in diverse family structures (first-marriage families, stepfamily households, single-parent households). In particular, mothers' perceptions of children's health, adherence to prescribed treatments, and help received from others were compared and predictors of treatment adherence were examined. Children's health and adherence to treatment regimens were not related to family structure. Mothers had the major responsibility for seeing that cystic fibrosis treatments were followed, regardless of family structure. Single mothers received less help than married and repartnered mothers. Married fathers helped with treatments more than nonresidential divorced fathers and stepfathers. Implications for nursing practice and suggestions for future research are offered.

  18. Treatment and prognosis of nasal polyps in cystic fibrosis.

    PubMed

    Stern, R C; Boat, T F; Wood, R E; Matthews, L W; Doershuk, C F

    1982-12-01

    Nasal polyposis complicated the course of fibrosis in 157 (26%) of 605 patients. Onset before age 5 years or after age 20 years was rare. Polyposis was the initial symptom of cystic fibrosis in 13 patients. Common symptoms included obstruction to nasal air flow, mouth breathing, epistaxis, and rhinorrhea. Intranasal and oral corticosteroids and antihistamines were ineffective in preventing recurrences but did occasionally afford symptomatic relief of obstruction. Nineteen (31%) of 62 patients who never had surgery had spontaneous and permanent disappearance of polyps. Simple polypectomy was an adequate procedure for patients with substantial nasal symptoms. There were no visual complications. Other surgical complications were rare. Children and adolescents with nasal polyps should have sweat tests by pilocarpine iontophoresis to rule out cystic fibrosis.

  19. Extensive comedonal and cystic acne in Patau syndrome.

    PubMed

    Torrelo, Antonio; Fernandez-Crehuet, Pablo; Del Prado, Elena; Martes, Pilar; Hernández-Martín, Angela; De Diego, Verónica; Carapeto, Francisco

    2010-01-01

    Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). Some skin defects have been reported in patients with Patau syndrome, such as scalp defects, glabellar stains, deep palmar creases, rocker-bottom feet, convex soles, hyperconvextity of the nails, and multiple hemangiomas. To our knowledge, widespread comedonal and cystic acne have not been previously reported in Patau syndrome.

  20. Diffuse idiopathic skeletal hyperostosis and isotretinoin in cystic acne.

    PubMed

    Zhao, Sizheng; Goodson, Nicola J

    2015-06-23

    We present the case of a 35-year-old man with thoracic back pain and stiffness, whose only medical history was cystic acne treated with repeated courses of retinoids. His thoracic spine was severely limited in range of movement and was found, on X-ray, to have unilateral hyperostosis typical of diffuse idiopathic skeletal hyperostosis (DISH)--an often asymptomatic condition rarely found in those under 50. Back stiffness in young patients with prolonged retinoid exposure should be investigated.

  1. CT evaluation of cystic lymphangiomas of the mediastinum

    SciTech Connect

    Pilla, T.J.; Wolverson, M.K.; Sundaram, M.; Heiberg. E.; Shields, J.B.

    1982-09-01

    Two cases of cystic mediastinal lymphangioma are reported, one involving a 12-year-old boy and the other a 53-year-old man. In both cases a mediastinal mass was evident on plain chest radiographs, while CT scans demonstrated a well-circumscribed lesion of low attenuation molding to the mediastinal contours and enveloping the great vessels, suggesting the diagnosis. The display of the precise extent of the lesion in relation to the surrounding structures was helpful in planning surgery.

  2. CT of benign cystic abdominal masses in children

    SciTech Connect

    Haney, P.J.; Whitley, N.O.

    1984-06-01

    Computed tomography (CT) correctly portrayed the gross anatomic features of six mesenteric, omental, and ovarian cysts and diagnosed two pancreatic pseudocysts in children. Large, well defined, low-density masses were found, often containing septa and filling most of the abdomen and pelvis. CT displayed the size and extent of the mass and showed extrinsic compression of displacement of surrounding structures. Different pathologic entities may have similar CT appearances, particularly with very large cystic masses.

  3. Improvement of hepatic steatosis in cystic fibrosis with ivacaftor therapy.

    PubMed

    Hayes, Don; Warren, Patrick S; McCoy, Karen S; Sheikh, Shahid I

    2015-05-01

    Treatment of liver disease, including hepatic steatosis, in patients with cystic fibrosis (CF) is limited. With the development of ivacaftor, which corrects the gating defect of the CF transmembrane regulator channel, there is a potential new therapy available for this subgroup of the CF patient population. We present an adolescent with CF who had significant improvement in hepatic steatosis with ivacaftor treatment while hypothesizing on a mechanism of why it occurred.

  4. Pancreatic changes in cystic fibrosis: CT and sonographic appearances

    SciTech Connect

    Daneman, A.; Gaskin, K.; Martin, D.J.; Cutz, E.

    1983-10-01

    The computed tomographic (CT) and sonographic appearances of the late stages of pancreatic damage in three patients with cystic fibrosis are illustrated. All three had severe exocrine pancreatic insufficiency with steatorrhea. In two patients CT revealed complete fatty replacement of the entire pancreas. In the third, increased echogenicity of the pancreas on sonography and the inhomogeneous attenuation on CT were interpreted as being the result of a combination of fibrosis, fatty replacement, calcification, and probable cyst formation.

  5. A Huge Cystic Retroperitoneal Lymphangioma Presenting with Back Pain

    PubMed Central

    Kubachev, Kubach; Abdullaev, Elbrus; Babyshin, Valentin; Neronov, Dmitriy; Abdullaev, Abakar

    2016-01-01

    Retroperitoneal lymphangioma is a rare location and type of benign abdominal tumors. The clinical presentation of this rare disease is nonspecific, ranging from abdominal distention to sepsis. Here we present a 73-year-old female patient with 3-month history of back pain. USG and CT revealed a huge cystic mass which was surgically excised and appeared to be lymphangioma on histopathology. PMID:27843456

  6. Cystic fibrosis compatible with a full term army engagement.

    PubMed

    Jackson, S M J S; Cooper, N K

    2011-09-01

    A case of a specialist senior non-commissioned officer with cystic fibrosis (CF) is described. Partial expression of the CF trait is well known and sporadic cases are detected from time to time at recruitment, during recruit training and service. Respiratory symptoms may be mis-diagnosed as self-limiting asthma until a sweat chloride or other specific test for CF is performed.

  7. Pancreatic Cystic Fluid Reference Set — EDRN Public Portal

    Cancer.gov

    The proposed reference set will be designed to evaluate biomarkers for the following applications aimed at determining whether a patient would benefit from surgical resection of their cystic lesion: 1. Distinguish between pancreatic cysts that have high-malignant potential and cysts that have low or no malignant potential at time of endoscopic ultrasound evaluation. a. By analysis of blood b. By analysis of pancreatic cystic fluid 2. Distinguish between cysts that have any malignant potential (high and low) and cysts that have no malignant potential (benign lesions) at time of endoscopic ultrasound evaluation. a. By analysis of blood b. By analysis of pancreatic cystic fluid 3. Distinguish between a cyst that is mucinous (malignant potential) or non-mucinous (no malignant potential) at time of endoscopic ultrasound evaluation. a. By analysis of blood b. By analysis of pancreatic cystic fluid 4. Distinguish between pancreatic cysts that have high-malignant potential and cysts that have low or no malignant potential at time of evaluation in surgery clinic. a. By analysis of blood 5. Distinguish between cysts that have any malignant potential (high and low) and cysts that have no malignant potential (benign lesions) at time of evaluation in surgery clinic. a. By analysis of blood 6. Distinguish between a cyst that is mucinous (malignant potential) or non-mucinous (no malignant potential) at time of evaluation in surgery clinic. a. By analysis of blood If successful in meeting these afore-mentioned objectives, these results can then be used in the development of future studies at identifying the need for additional evaluation (i.e., endoscopic ultrasound with fine needle aspiration) of an incidental cyst

  8. Spontaneous pneumomediastinum and hemopneumothoraces secondary to cystic lung metastasis.

    PubMed

    Park, Sung Il; Choi, Eugene; Lee, Heung Bum; Rhee, Yang Keun; Chung, Myoung Ja; Lee, Yong Chul

    2003-01-01

    We report a case of a cystic metastasis to the lung from an angiosarcoma of the scalp in a 75-year-old man who complained of hemoptysis. A chest CT scan showed multiple thin-walled pulmonary cysts, bilateral pneumothoraces, small nodules and pneumomediastinum. Histologic examination revealed pleural infiltration of angiosarcoma cells. One month later, a high-resolution CT scan showed that the cysts had rapidly developed into large lesions.

  9. Highlights of the 28(th) North American Cystic Fibrosis Conference 2014.

    PubMed

    Nwokoro, Chinedu E C

    2015-10-01

    This is a selection of papers presented at the 28(th) North American Cystic Fibrosis Conference held in Atlanta in October 2014. The papers discussed are thought to be of particular interest to CF caregivers in the UK. Topics discussed include recent progress in the modification of the cystic fibrosis transmembrane regulator (CFTR), the potential of OligoG, a novel inhaled alginate mucolytic, and the changing approach to cystic fibrosis-related diabetes screening.

  10. Recent advances in understanding and managing cystic fibrosis transmembrane conductance regulator dysfunction

    PubMed Central

    Alton, Eric W.F.W.

    2015-01-01

    Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians and has been extensively studied for many decades. The cystic fibrosis transmembrane conductance regulator gene was identified in 1989. It encodes a complex protein which has numerous cellular functions. Our understanding of cystic fibrosis pathophysiology and genetics is constantly expanding and being refined, leading to improved management of the disease and increased life expectancy in affected individuals. PMID:26097737

  11. Modulating innate and adaptative immunity by (R)-roscovitine: potential therapeutic opportunity in cystic fibrosis

    PubMed Central

    MEIJER, Laurent; NELSON, Deborah; RIAZANSKI, Vladimir; GABDOULKHAKOVA, Aida G.; HERY-ARNAUD, Geneviève; LE BERRE, Rozenn; LOAËC, Nadège; OUMATA, Nassima; GALONS, Hervé; NOWAK, Emmanuel; GUEGANTON, Laetitia; DOROTHEE, Guillaume; PROCHAZKOVA, Michaela; HALL, Bradford; KULKARNI, Ashok B.; GRAY, Robert D.; ROSSI, Adriano G.; WITKO-SARSAT, Véronique; NOREZ, Caroline; BECQ, Frédéric; RAVEL, Denis; MOTTIER, Dominique; RAULT, Gilles

    2016-01-01

    (R)-Roscovitine, a pharmacological inhibitor of kinases, is currently in phase II clinical trial as a drug candidate for the treatment of cancers, Cushing disease and rheumatoid arthritis. We here review the data that support investigation of (R)-roscovitine as a potential therapeutic agent for the treatment of cystic fibrosis (CF). (R)-Roscovitine displays four independent properties that may favourably combine against CF: (1) it partially protects F508del-CFTR from proteolytic degradation and favours its trafficking to the plasma membrane, (2) by increasing membrane targeting of the TRPC6 ion channel, it rescues acidification in phagolysosomes of CF alveolar macrophages (which show abnormally high pH) and consequently restores their bactericidal activity, (3) its effects on neutrophils (induction of apoptosis), eosinophils (inhibition of degranulation, induction of apoptosis) and lymphocytes (modification of the Th17/Treg balance in favor of the differentiation of anti-inflammatory lymphocytes and reduced production of various interleukins, notably IL-17A) contribute to the resolution of inflammation and restoration of innate immunity, (4) roscovitine displays analgesic properties in animal pain models. The fact that (R)-roscovitine has undergone extensive preclinical safety/pharmacology studies, phase I clinical and phase II clinical trials in cancer patients encourage its repurposing as a CF drug candidate. PMID:26987072

  12. Molecular aspects of bovine cystic ovarian disease pathogenesis.

    PubMed

    Ortega, Hugo H; Marelli, Belkis E; Rey, Florencia; Amweg, Ayelen N; Díaz, Pablo U; Stangaferro, Matías L; Salvetti, Natalia R

    2015-06-01

    Cystic ovarian disease (COD) is one of the main causes of reproductive failure in cattle and causes severe economic loss to the dairy farm industry because it increases both days open in the post partum period and replacement rates due to infertility. This disease is the consequence of the failure of a mature follicle to ovulate at the time of ovulation in the estrous cycle. This review examines the evidence for the role of altered steroid and gonadotropin signaling systems and the proliferation/apoptosis balance in the ovary with cystic structures. This evidence suggests that changes in the expression of ovarian molecular components associated with these cellular mechanisms could play a fundamental role in the pathogenesis of COD. The evidence also shows that gonadotropin receptor expression in bovine cystic follicles is altered, which suggests that changes in the signaling system of gonadotropins could play a fundamental role in the pathogenesis of conditions characterized by altered ovulation, such as COD. Ovaries from animals with COD exhibit a disrupted steroid receptor pattern with modifications in the expression of coregulatory proteins. These changes in the pathways of endocrine action would trigger the changes in proliferation and apoptosis underlying the aberrant persistence of follicular cysts. Free Spanish abstract: A Spanish translation of this abstract is freely available at http://www.reproduction-online.org/content/149/6/R251/suppl/DC1.

  13. Personalized medicine for cystic fibrosis: establishing human model systems.

    PubMed

    Mou, Hongmei; Brazauskas, Karissa; Rajagopal, Jayaraj

    2015-10-01

    With over 1,500 identifiable mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that result in distinct functional and phenotypical abnormalities, it is virtually impossible to perform randomized clinical trials to identify the best therapeutics for all patients. Therefore, a personalized medicine approach is essential. The only way to realistically accomplish this is through the development of improved in vitro human model systems. The lack of a readily available and infinite supply of human CFTR-expressing airway epithelial cells is a key bottleneck. We propose that a concerted two-pronged approach is necessary for patient-specific cystic fibrosis research to continue to prosper and realize its potential: (1) more effective culture and differentiation conditions for growing primary human airway and nasal epithelial cells and (2) the development of collective protocols for efficiently differentiating disease- and patient-specific induced pluripotent stem cells (iPSC) into pure populations of adult epithelial cells. Ultimately, we need a personalized human model system for cystic fibrosis with the capacity for uncomplicated bankability, widespread availability, and universal applicability for patient-specific disease modeling, novel pharmacotherapy investigation and screening, and readily executable genetic modification.

  14. Model of mucociliary clearance in cystic fibrosis lungs.

    PubMed

    Kurbatova, P; Bessonov, N; Volpert, V; Tiddens, H A W M; Cornu, C; Nony, P; Caudri, D

    2015-05-07

    Mucus clearance is a primary innate defense mechanism in the human airways. Cystic fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CF is characterized by dehydration of airway surface liquid and impaired mucociliary clearance. As a result, microorganisms are not efficiently removed from the airways, and patients experience chronic pulmonary infections and inflammation. We propose a new physiologically based mathematical model of muco-ciliary transport consisting of the two major components of the mucociliary clearance system: (i) periciliary liquid layer (PCL) and (ii) mucus layer. We study mucus clearance under normal conditions and in CF patients. Restoring impaired clearance of airway secretions in one of the major goals of therapy in patients with CF. We consider the action of the aerosolized and inhaled medication dornase alfa, which reduces the viscosity of cystic fibrosis mucus, by selectively cleaving the long DNA strands it contains. The results of the model simulations stress the potential relevance of the location of the drug deposition in the central or peripheral airways. Mucus clearance was increased in case the drug was primarily deposited peripherally, i.e. in the small airways.

  15. Lumacaftor/Ivacaftor: A Review in Cystic Fibrosis.

    PubMed

    Deeks, Emma D

    2016-08-01

    Lumacaftor/ivacaftor (Orkambi™) is a fixed-dose tablet containing a corrector (lumacaftor) and potentiator (ivacaftor) of the cystic fibrosis transmembrane conductance regulator (CFTR) and is the first therapy approved to treat the underlying cause of cystic fibrosis in patients (aged ≥12 years) homozygous for the most common CFTR mutation, F508del. Lumacaftor improves the processing of F508del CFTR and its transport to the cell surface, while ivacaftor increases the channel's open probability and transport of chloride. In two 24-week trials in the approved patient population (TRAFFIC and TRANSPORT), lumacaftor 400 mg plus ivacaftor 250 mg, administered every 12 h in combination with standard therapy, was associated with an ≈3 % statistically significant improvement in lung function relative to placebo (as measured by the percent predicted forced expiratory volume in 1 s). Lumacaftor plus ivacaftor did not significantly improve respiratory symptoms, although reduced pulmonary exacerbations to a clinically meaningful extent and, in one trial (TRANSPORT), significantly improved body mass index (BMI). In an ongoing extension of these studies (PROGRESS), lumacaftor plus ivacaftor provided clinical benefit over a further 72 weeks of treatment. Lumacaftor plus ivacaftor had an acceptable tolerability profile, with the most common adverse events being respiratory or gastrointestinal in nature. Thus, lumacaftor/ivacaftor expands the treatment options available for patients with cystic fibrosis homozygous for the F508del-CFTR mutation, although its precise place in clinical practice remains to be determined.

  16. Cholecystokinin cholescintigraphic findings in the cystic duct syndrome

    SciTech Connect

    Fink-Bennett, D.; DeRidder, P.; Kolozsi, W.; Gordon, R.; Rapp, J.

    1985-10-01

    Fourteen patients with a cystic duct syndrome (CDS) underwent cholecystokinin (CCK) cholescintigraphy. All patients presented with persistent postprandial right upper quadrant pain and biliary colic. None of the patients had an abnormal oral cholecystography, gallbladder (GB) ultrasound exam or upper GI series. Each patient received 5 mCi of technetium-99m disofenin. When the GB maximally filled, 0.02 microgram/kg CCK was administered (3 min) intravenously. Background corrected gallbladder ejection fractions (GBEFs) were determined every 5 min X 4 by rationing the pre-CCK GB counts minus post-CCK GB counts to pre-CCK GB counts. GBEFs were: 12% (3 patients), 17% (2), 0%, 1.3%, 3%, 4%, 6%, 11%, 14%, 18.5%, and 22% (1 each). All patients underwent a surgical exploration and all had macro- or microscopically abnormal cystic ducts with (12 patients) or without (2 patients) concomitant chronic cholecystitis. No patient with a partially occluded cystic duct with or without concomitant chronic cholecystitis had an ejection fraction that exceeded 22%. In an appropriate clinical setting, a low EF response to CCK should alert the physician to the presence of either chronic acalculous cholecystitis, CDS, or the combination of both.

  17. Validity of a modified shuttle test in adult cystic fibrosis

    PubMed Central

    Bradley, J.; Howard, J.; Wallace, E.; Elborn, S.

    1999-01-01

    BACKGROUND—The purpose of this study was to provide some evidence of the validity of a modified shuttle test (MST) by comparing performance on the MST with peak oxygen consumption (V̇O2peak) measured during a treadmill test in a group of adult patients with cystic fibrosis.
METHOD—Twenty patients with stable cystic fibrosis performed a ramped maximal treadmill test (STEEP protocol) and the MST using a randomised balanced design.
RESULTS—The relationship between the distance achieved on the MST and V̇O2peak was strong (r = 0.95, p<0.01) with 90% of the variance in V̇O2peak explained by the variance in MST distance. The relationship was represented by the regression equation (with 95% confidence intervals) V̇O2peak = 6.83 (2.85 to 10.80) + 0.028 (0.019 to 0.024)× MST distance.
CONCLUSION—This study provides evidence of the construct validity of the MST as an objective measure of exercise capacity in adults with cystic fibrosis.

 PMID:10212110

  18. A Haplotype Framework for Cystic Fibrosis Mutations in Iran

    PubMed Central

    Elahi, Elahe; Khodadad, Ahmad; Kupershmidt, Ilya; Ghasemi, Fereshteh; Alinasab, Babak; Naghizadeh, Ramin; Eason, Robert G.; Amini, Mahshid; Esmaili, Mehran; Esmaeili Dooki, Mohammad R.; Sanati, Mohammad H.; Davis, Ronald W.; Ronaghi, Mostafa; Thorstenson, Yvonne R.

    2006-01-01

    This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify disease-causing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, under-diagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, ΔF508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population. PMID:16436643

  19. Analysis of clinical characteristics and treatment of pancreatic cystic tumors

    PubMed Central

    You, Lei; Xiao, Jianchun; Cao, Zhe; Zhang, Wanying; Liao, Quan; Dai, Menghua; Zhang, Taiping; Zhao, Yupei

    2016-01-01

    Objective To summarize experience in the diagnosis and treatment of pancreatic cystic neoplasms. Methods This is a retrospective study of 207 patients who were diagnosed with pancreatic cystic tumors at Peking Union Medical College Hospital between Jan 2009 and Mar 2014. Clinical data, such as clinical manifestations, radiological and pathological images and surgical recordings, were collected. Results Of the 207 included patients, females accounted for 76.81%, and the mean patient age was 52.04 years. Malignancy was more common in older patients who presented with marasmus and jaundice. Other risk factors included solid components in the tumor, a large tumor size, and elevated levels of tumor markers. Surgical treatment was required when a malignant tumor was suspected. The operation approach was selected based on the location, size and characteristics of the tumor. The position of the tumor relative to the pancreatic duct also played a significant role. Conclusions No specific symptoms were observed for the patients with pancreatic cystic tumors. Imaging played an important role in making a differential diagnosis. Furthermore, surgical treatment should be proposed for patients with significant symptoms and potentially malignant tumors. The tumor resection rate is high, suggestive of good prognosis. PMID:27877011

  20. Cystic and ductal tumors of the pancreas: diagnosis and management.

    PubMed

    Scoazec, J Y; Vullierme, M P; Barthet, M; Gonzalez, J M; Sauvanet, A

    2013-04-01

    Incidentally discovered cystic tumors of the pancreas (CTP) are an increasingly frequent entity. It is essential to differentiate lesions whose malignant potential is either nil or negligible (pseudocyst, serous cystadenoma, simple cysts) from lesions with intermediate malignant potential (intraductal papillary mucinous tumor of the pancreas [IPMN] involving the secondary ducts, cystic endocrine tumor) or those with high malignant potential (mucinous cystadenoma, solid pseudopapillary tumors and IPMN involving the main pancreatic duct). The approach to defining malignant potential is based on diagnostic CT scan, magnetic resonance imaging (MRI), and endoscopic ultrasound (EUS), often complemented by EUS-guided cyst puncture for biochemical and cytological analysis of cyst fluid. Surgery for diagnostic purposes should be avoided because of its significant morbidity. For pseudocysts, simple cysts and serous cystadenomas, abstention is the general rule. Resection, preserving as much pancreatic parenchyma as possible, is the rule for IPMN involving the main pancreatic duct, mucinous cystadenomas, solid and pseudopapillary tumors, and cystic endocrine tumors. Resection is rarely indicated at the outset for IPMN involving secondary pancreatic ducts; morphologic observation is the general rule and preventive excision may be indicated secondarily. Good collaboration between surgeons, radiologists and endosonographists is necessary for optimal management of CTP.

  1. A haplotype framework for cystic fibrosis mutations in Iran.

    PubMed

    Elahi, Elahe; Khodadad, Ahmad; Kupershmidt, Ilya; Ghasemi, Fereshteh; Alinasab, Babak; Naghizadeh, Ramin; Eason, Robert G; Amini, Mahshid; Esmaili, Mehran; Esmaeili Dooki, Mohammad R; Sanati, Mohammad H; Davis, Ronald W; Ronaghi, Mostafa; Thorstenson, Yvonne R

    2006-02-01

    This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify disease-causing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier frequency of 2.5 in 100 (1 in 40) was estimated from the frequency of heterozygous patients and suggests that contrary to popular belief, cystic fibrosis may be a common, under-diagnosed disease in Iran. A heterogeneous mutation spectrum was observed at the CFTR locus in 60 cystic fibrosis (CF) patients from Iran. Twenty putative disease-causing mutations were identified on 64 (53%) of the 120 chromosomes. The five most common Iranian mutations together represented 37% of the expected mutated alleles. The most frequent mutation, DeltaF508 (p.F508del), represented only 16% of the expected mutated alleles. The next most frequent mutations were c.1677del2 (p.515fs) at 7.5%, c.4041C>G (p.N1303K) at 5.6%, c.2183AA>G (p.684fs) at 5%, and c.3661A>T (p.K1177X) at 2.5%. Three of the five most frequent Iranian mutations are not included in a commonly used panel of CF mutations, underscoring the importance of identifying geographic-specific mutations in this population.

  2. The role of laparoscopy and laparoscopic ultrasound in the diagnosis of cystic lesions of the pancreas.

    PubMed

    Schachter, Pinhas P; Shimonov, Mordechai; Czerniak, Abraham

    2002-10-01

    With the widespread use of advanced imaging techniques, cystic lesions of the pancreas are now diagnosed relatively frequently. The nature of these lesions vary from benign cysts (serous cvstadenoma) or an inflammatory process (pseudocyst), to premalignant (mucinous cystadenoma) or frankly malignant lesions (cystadenocarcinoma). Differentiation of various types of pancreatic cysts presents a diagnostic and therapeutic challenge, as clinical presentation may be vague. Laparoscopic ultrasonography (LAPUS), the biopsy of the cystic wall, and analysis of the cystic aspirate, although expensive and rather invasive procedures, significantly contribute to the differential diagnosis of pancreatic cystic lesions.

  3. Safety of Chemotherapeutic Infusion or Chemoembolization for Hepatocellular Carcinoma Supplied Exclusively by the Cystic Artery

    SciTech Connect

    Kang, Beomsik Kim, Hyo-Cheol Chung, Jin Wook Hur, Saebeom Joo, Seung-Moon Jae, Hwan Jun Park, Jae Hyung

    2013-10-15

    Purpose: This study was designed to evaluate the safety of chemotherapeutic infusion or chemoembolization by way of the cystic artery in patients with hepatocellular carcinoma (HCC) supplied exclusively by the cystic artery. Methods: Between Jan 2002 and Dec 2011, we performed chemotherapeutic infusion or chemoembolization using iodized oil for the treatment of 27 patients with HCC supplied exclusively by the cystic artery. Computed tomography (CT) scans, digital subtraction angiograms, and medical records were retrospectively reviewed by consensus. Results: The cystic artery originated from the main right hepatic artery in 24 (89 %) patients, from the right anterior hepatic artery in 2 (7 %) patients, and from the left hepatic artery in 1 (4 %) patient. Selective catheterization of the cystic artery was achieved in all patients. Superselection of tumor-feeding vessels from the cystic artery was achieved in 7 patients (26 %). Chemotherapeutic infusion was performed in 18 patients (67 %), and chemoembolization was performed in 9 patients (33 %). There were no major complications and only 2 minor complications, including vasovagal syncope and nausea with vomiting. Individual tumor response supplied exclusively by the cystic artery at the follow-up enhanced CT scan were complete response (n = 16), partial response (n = 3), and stable disease (n = 8). Conclusion: HCC supplied exclusively by the cystic artery can be safely treated without severe complications by chemotherapeutic infusion or chemoembolization using iodized oil through the cystic artery.

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

    PubMed

    Marcorelles, Pascale; Gillet, Danièle; Friocourt, Gaëlle; Ledé, Françoise; Samaison, Laura; Huguen, Geneviève; Ferec, Claude

    2012-03-01

    Sterility due to bilateral destruction in utero or in early infancy resulting in congenital absence of the vas deferens is the rule in male patients with cystic fibrosis. To understand the developmental pattern of this anomaly, the microscopic morphology of the male excretory system was analyzed during development and the expression of the cystic fibrosis transmembrane conductance regulator protein was explored by immunohistochemistry. We observed that cystic fibrosis fetuses had no excretory ducts agenesis or obstruction until 22 weeks of gestation. However, a focal inflammatory pattern and mucinous plugs in the oldest cystic fibrosis case suggested a disruptive mechanism. Immunolabeling of cytoplasmic epithelial cystic fibrosis transmembrane conductance regulator protein was demonstrated in all cystic fibrosis and control cases with a similar pattern of expression of the protein between age-matched controls and cystic fibrosis cases. At midgestation, an apical intensification appeared in both cystic fibrosis and control cases and was stable during the remainder of fetal life. No gradient of intensity could be detected between the different segments of the excretory tract. These findings are different from those reported in adults. The absence of any morphologic anomaly until 22 weeks of gestation, the focal destruction of the epithelial structures during the second trimester, and the chronological pattern of expression of cystic fibrosis transmembrane conductance regulator are of interest for a better understanding of the pathophysiology of this disease.

  5. Flow rate and inorganic components of submandibular saliva in cystic fibrosis

    PubMed Central

    Blomfield, Jeanette; Warton, Kathryn L.; Brown, J. M.

    1973-01-01

    The inorganic components of submandibular saliva were determined in 35 patients with cystic fibrosis and in 28 controls. No differences due to flow rate were apparent between the two groups. At comparable flow rates, cystic fibrosis submandibular saliva had higher concentrations of calcium, sodium, and chloride, and similar concentrations of magnesium, inorganic phosphate, potassium, copper, and zinc. The insoluble, turbid fraction of the cystic fibrosis submandibular saliva contained both calcium and phosphate, and these were precipitated in a ratio which was consistent with hydroxyapatite. The secretory granules are postulated as the source of the excess calcium in cystic fibrosis submandibular saliva. PMID:4705932

  6. Effect of sinus surgery on pulmonary function in patients with cystic fibrosis.

    PubMed

    Madonna, D; Isaacson, G; Rosenfeld, R M; Panitch, H

    1997-03-01

    The impact of sinus surgery on the pulmonary status of cystic fibrosis patients is unknown. This retrospective study reviewed the charts of the cystic fibrosis patients presenting to our institution's cystic fibrosis center with nasal obstruction, recurrent sinusitis, and nasal polyposis. This group subsequently underwent endoscopic ethmoidectomy and antrostomy. Fourteen of the 15 patients, ages 5-24 years, received preoperative and postoperative pulmonary function testing obtained by spirometry. The data were compiled and analyzed statistically. Our results suggested no significant improvement in the pulmonary function of cystic fibrosis patients after sinus surgery.

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

    PubMed Central

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

    2016-01-01

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

  8. Peritoneal cystic mesothelioma: an electron microscopic and immunohistochemical study of two male patients.

    PubMed Central

    Sienkowski, I K; Russell, A J; Dilly, S A; Djazaeri, B

    1986-01-01

    The clinical, pathological, and ultrastructural features of two cases of peritoneal cystic mesothelioma occurring in men were studied. The results of immunohistochemical staining for CAM 5.2, epithelial membrane antigen, carcinoembryonic antigen, and Factor VIII related antigen are reported for the first time and compared with the staining results of two peritoneal cystic lymphangiomas. Although resembling cystic lymphangioma by light microscopy, cystic mesothelioma may have a greater tendency for local recurrence. Staining for CAM 5.2 or epithelial membrane antigen may facilitate the differentiation of these two entities. Images PMID:2422221

  9. Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis*

    PubMed Central

    Coutinho, Cyntia Arivabeni de Araújo Correia; Marson, Fernando Augusto de Lima; Ribeiro, Antônio Fernando; Ribeiro, José Dirceu; Bertuzzo, Carmen Silvia

    2013-01-01

    OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were female, and 94.29% were White. Mutation screening was performed with polymerase chain reaction (for F508del), followed by enzymatic digestion (for other mutations). Clinical analysis was performed on the basis of gender, age, ethnicity, pulmonary/gastrointestinal symptoms, and Shwachman-Kulczycki (SK) score. RESULTS: All of the patients showed pulmonary symptoms, and 8 had no gastrointestinal symptoms. On the basis of the SK scores, CF was determined to be mild, moderate, and severe in 22 (42.3%), 17 (32.7%), and 13 (25.0%) of the patients, respectively. There was no association between F508del mutation and disease severity by SK score. Of the 140 alleles analyzed, F508del mutation was identified in 70 (50%). Other mutations (G542X, G551D, R553X, R1162X, and N1303K) were identified in 12 (7.93%) of the alleles studied. In F508del homozygous patients with severe disease, the OR was 0.124 (95% CI: 0.005-0.826). CONCLUSIONS: In 50% of the alleles studied, the molecular diagnosis of CF was confirmed by identifying a single mutation (F508del). If we consider the analysis of the six most common mutations in the Brazilian population (including F508del), the molecular diagnosis was confirmed in 58.57% of the alleles studied. PMID:24310628

  10. [Cystic Fibrosis Cloud database: An information system for storage and management of clinical and microbiological data of cystic fibrosis patients].

    PubMed

    Prieto, Claudia I; Palau, María J; Martina, Pablo; Achiary, Carlos; Achiary, Andrés; Bettiol, Marisa; Montanaro, Patricia; Cazzola, María L; Leguizamón, Mariana; Massillo, Cintia; Figoli, Cecilia; Valeiras, Brenda; Perez, Silvia; Rentería, Fernando; Diez, Graciela; Yantorno, Osvaldo M; Bosch, Alejandra

    2016-01-01

    The epidemiological and clinical management of cystic fibrosis (CF) patients suffering from acute pulmonary exacerbations or chronic lung infections demands continuous updating of medical and microbiological processes associated with the constant evolution of pathogens during host colonization. In order to monitor the dynamics of these processes, it is essential to have expert systems capable of storing and subsequently extracting the information generated from different studies of the patients and microorganisms isolated from them. In this work we have designed and developed an on-line database based on an information system that allows to store, manage and visualize data from clinical studies and microbiological analysis of bacteria obtained from the respiratory tract of patients suffering from cystic fibrosis. The information system, named Cystic Fibrosis Cloud database is available on the http://servoy.infocomsa.com/cfc_database site and is composed of a main database and a web-based interface, which uses Servoy's product architecture based on Java technology. Although the CFC database system can be implemented as a local program for private use in CF centers, it can also be used, updated and shared by different users who can access the stored information in a systematic, practical and safe manner. The implementation of the CFC database could have a significant impact on the monitoring of respiratory infections, the prevention of exacerbations, the detection of emerging organisms, and the adequacy of control strategies for lung infections in CF patients.

  11. Considerations for the Conduct of Clinical Trials with Antiinflammatory Agents in Cystic Fibrosis. A Cystic Fibrosis Foundation Workshop Report.

    PubMed

    Torphy, Theodore J; Allen, Janet; Cantin, André M; Konstan, Michael W; Accurso, Frank J; Joseloff, Elizabeth; Ratjen, Felix A; Chmiel, James F

    2015-09-01

    Inflammation leads to lung destruction and loss of pulmonary function in patients with cystic fibrosis (CF). Drugs that modulate the cystic fibrosis transmembrane conductance regulator (CFTR) have recently been approved. Although the impact of CFTR modulators on sweat chloride and lung function are exciting, they have not yet demonstrated an effect on inflammation. Therefore, CF antiinflammatory drug development must continue. Unfortunately, the lack of clarity with this process has left investigators and industry sponsors frustrated. The Cystic Fibrosis Foundation established a working group in early 2014 to address this issue. There are many inflammatory processes disrupted in CF, and, therefore, there are many potential targets amenable to antiinflammatory therapy. Regardless of a drug's specific mechanism of action, it must ultimately affect the neutrophil or its products to impact CF. The working group concluded that before bringing new antiinflammatory drugs to clinical trial, preclinical safety studies must be conducted in disease-relevant models to assuage safety concerns. Furthermore, although studies of antiinflammatory therapies must first establish safety in adults, subsequent studies must involve children, as they are most likely to reap the most benefit. The working group also recommended that pharmacokinetic-pharmacodynamic studies and early-phase safety studies be performed before proceeding to larger studies of longer duration. In addition, innovative study designs may improve the likelihood of adequately assessing treatment response and mitigating risk before conducting multiyear studies. Learning from past experiences and incorporating this knowledge into new drug development programs will be instrumental in bringing new antiinflammatory therapies to patients.

  12. [Transcatheter Arterial Chemoembolization with Super absorbent Polymer Microspheres for a Large Lung Cystic Adenocarcinoma in the Left Pulmonary Cavity].

    PubMed

    Kennoki, Norifumi; Hori, Shinichi; Yuki, Takeo; Sueyoshi, Satoshi; Hori, Atsushi

    2015-11-01

    A 57-year-old woman presented with lung adenocarcinoma and carcinomatous pleurisy in January 2013. The primary lesion had been treated with 60-Gy radiation therapy. She, however, showed a recurrence of the tumor in her pulmonary cavity. She received systemic chemotherapy for 1 year but did not show any improvement. She visited our clinic in March 2014. Her performance level was 3. Her hemoglobin level was 8.5 g/dL. The CT scan showed that the size of the cystic tumor was 200 × 144 × 143 mm. The tumor severely compressed her heart. We performed TACE using a spherical embolic agent. The microcatheter was guided through the left bronchial artery; left intercostal artery 9, 10, and 11; and the left inferior phrenic artery. The anticancer drugs selected were CDDP and 5-FU. The embolic material used was SAP-MS. After 3 therapy sessions, the CT scan showed shrinkage of the target lesion to 100 × 93 × 54 mm. Her hemoglobin level increased to 13.8 g/dL; furthermore, the severity of dyspnea decreased, and she showed a performance status of 0. TACE with SAP-MS was successfully performed for the large cystic tumor in the pulmonary cavity that metastasized from the lung cancer and was refractory to standard treatments. After the treatment, the tumor size decreased and the patient's symptoms alleviated.

  13. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  14. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  15. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  16. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

  17. 21 CFR 866.5910 - Quality control material for cystic fibrosis nucleic acid assays.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... nucleic acid assays. 866.5910 Section 866.5910 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF... Test Systems § 866.5910 Quality control material for cystic fibrosis nucleic acid assays. (a) Identification. Quality control material for cystic fibrosis nucleic acid assays. A quality control material...

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

    PubMed Central

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

    2016-01-01

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

  19. Rapid increase in cystic volume of an anaplastic astrocytoma misdiagnosed as neurocysticercosis: A case report

    PubMed Central

    Li, Hong-Jiang; Han, Hong-Xiu; Feng, Dong-Fu

    2016-01-01

    Reports describing a rapid increase in the cystic volume of anaplastic astrocytoma (AA) in a short time frame are rare. The present study reports the case of a 68-year-old male who was admitted to the No. 9 People's Hospital, Shanghai Jiaotong University School of Medicine (Shanghai, China), with a small cystic brain lesion and positive immunological testing for cysticercosis. Head magnetic resonance imaging (MRI) showed a cystic lesion, 6 mm in diameter, in the left frontal lobe. Neurocysticercosis was suspected and the patient was treated with a clinical trial of albendazole and steroids. A period of 25 days later, the patient's condition had deteriorated, and MRI revealed a cystic lesion in the left frontal lobe; thereafter, the cystic lesion was removed and a diagnosis of AA was established. The tumor was soft, ivory white and gelatinous due to myxoid degeneration. In this case, tumor-related angiogenesis and microvascular extravasation (blood-brain barrier disruption) may have been the main cause of the rapid increase in the cystic volume in such a short time frame. The similarity of the glioma and cysticercus antigens may have been the cause of the positive reactions in the cystic fluid. The present study reports the rare occurrence of a rapid increase of cystic volume and potential diagnostic difficulties. PMID:27698865

  20. Self-Efficacy, Pulmonary Function, Perceived Health and Global Quality of Life of Cystic Fibrosis Patients

    ERIC Educational Resources Information Center

    Wahl, Astrid K.; Rustoen ,Tone; Hanestad, Berit R.; Gjengedal, Eva; Moum, Torbjorn

    2005-01-01

    This study examined the extent that pulmonary function is related to perceived health status and global quality of life in adults suffering from cystic fibrosis, and the extent that self-efficacy modifies these relationships. Our sample comprised 86 adults (48% female; mean age, 29 years; age range, 18-54 years) with cystic fibrosis, recruited…