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  1. Sphenoid sinus adenoid cystic carcinoma

    Directory of Open Access Journals (Sweden)

    Marambaia, Otavio

    2008-12-01

    Full Text Available Introduction: The sphenoid adenoid cystic carcinoma is a rare malign neoplasm, in the head and neck and when located in the paranasal sinuses, it is formed in the minor salivary glands. It grows slowly and is characterized by a large invasion of the adjacent tissues, and also has a large capacity of metastasis. The surgery associated with post-operative radiotherapy is used as treatment. Objective: To describe a case of sphenoid sinus adenoid cystic carcinoma in a male, black, 62 year patient. Case Report: N.L.B., 62 years of age, male, had bloody rhinorrhea for 6 months associated with bilateral nasal obstruction. The nasofibroscopy showed lesion of polypoid aspect in the left nasal cavity. He was submitted to biopsy and the anatomopathological exam showed adenoid cystic carcinoma and the patient was forwarded to oncology. Conclusions: The importance of conducting the differential diagnosis between chronic nasosinusal infection and nasosinusal tumors.

  2. Adenoid cystic carcinoma of the lacrimal gland

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  3. Laryngeal adenoid cystic carcinoma: case report

    Directory of Open Access Journals (Sweden)

    André Del Negro

    Full Text Available CONTEXT: Adenoid cystic carcinomas are malignant tumors that occur in both the major and the minor salivary glands. A laryngeal location is rare because of the paucity of accessory salivary glands in this area. Adenoid cystic carcinomas account for less than 1% of all malignant tumors in the larynx, and only about 120 cases have been reported in the literature. These tumors have a slight female predisposition, and their peak incidence is in the fifth and sixth decades of life. In this article, we describe a case of laryngeal adenoid cystic carcinoma and discuss its clinical characteristics and treatment. CASE REPORT: We report on a case of laryngeal adenoid cystic carcinoma in a 55 year-old female patient who presented with dyspnea and hoarseness. Features of the diagnostic and therapeutic evaluation are described and the clinical management of such cases is outlined. The clinical course, definitive treatment strategy and surgical procedure, and also adjuvant treatment with irradiation are discussed. Although the tumor is radiosensitive, it is not radiocurable.

  4. Laryngeal adenoid cystic carcinoma in an adolescent.

    Science.gov (United States)

    Aydin, Omer; Ustündağ, Emre; Işeri, Mete; Erçin, Cengiz

    2008-01-01

    Malignant tumors of the larynx are extremely rare in children and adolescents. Adenoid cystic carcinoma accounts for less than 1% of all malignant tumors in the larynx. We presented a 16-year-old girl with subglottic adenoid cystic carcinoma, whose symptoms of prolonged and exacerbating dyspnea had been attributed to asthma at another medical center. Indirect flexible and rigid laryngoscopy revealed a smooth mass in the subglottic region occupying 80% of the airway passage. The lesion was also confirmed by both CT and MRI. There was no lymphadenopathy in the neck. The patient was successfully treated by surgery and postoperative radiotherapy. Pathological staging was T4N0M0 according to the AJCC, 2003. During six years of follow-up, there was no evidence for local recurrence or regional and distant metastasis.

  5. Pulmonar collision tumor: Metastatic adenoid cystic carcinoma and lung adenocarcinoma

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

    2012-01-01

    Summary: 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. Resumo: Descreve...

  6. A case of subglotitic adenoid cystic carcinoma

    Directory of Open Access Journals (Sweden)

    Masoud Naghibzadeh

    2010-04-01

    Full Text Available Introcuction: Adenoid cystic carcinoma (ACC is the second most common salivary glands tumor and the most common malignant tumor of minor salivary glands and also submandibular glands; however ACC of the larynx and trachea is rare. These tumors generally present in subglottic region as smooth submucosal solid mass without ulceration. Their primary symptoms are often as respiratory problems. Materials and Methods: This study was done on a woman, 54 years, with subglottic ACC that presented with exertional dyspnea, stridor, cough and hoarseness. After confirmation of diagnosis with biopsy, the patient underwent a total laryngectomy and then postoperative radiotherapy. Conclusion: During one year follow up, the patient did not show any evidence of local recurrence or distant metastasis. Surgery with free margins in combination with postoperative radiotherapy was recommended to treat laryngeal ACC in order to obtain better survival.  

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

    Science.gov (United States)

    2018-03-22

    Recurrent Oral Cavity Adenoid Cystic Carcinoma; Recurrent Salivary Gland Carcinoma; Salivary Gland Adenoid Cystic Carcinoma; Stage III Major Salivary Gland Cancer AJCC v7; Stage III Oral Cavity Adenoid Cystic Carcinoma AJCC v6 and v7; Stage IVA Major Salivary Gland Cancer AJCC v7; Stage IVA Oral Cavity Adenoid Cystic Carcinoma AJCC v6 and v7; Stage IVB Major Salivary Gland Cancer AJCC v7; Stage IVB Oral Cavity Adenoid Cystic Carcinoma AJCC v6 and v7; Stage IVC Major Salivary Gland Cancer AJCC v7; Stage IVC Oral Cavity Adenoid Cystic Carcinoma AJCC v6 and v7; Tongue Carcinoma

  8. Laryngeal Adenoid Cystic Carcinoma: A Systematic Review.

    Science.gov (United States)

    Marchiano, Emily; Chin, Oliver Y; Fang, Christina H; Park, Richard Chan; Baredes, Soly; Eloy, Jean Anderson

    2016-03-01

    Adenoid cystic carcinoma is a malignant minor salivary gland tumor that represents laryngeal tumors. The submucosal location of laryngeal adenoid cystic carcinoma (LACC) results in delayed presentation. Here, we present the first systematic review of reported cases of LACC to determine trends in presentation, diagnostic and treatment modalities, and patient outcome. PubMed, Web of Science, MEDLINE, and EMBASE databases. A search of the above databases was done to identify articles reporting cases of LACC. The variables included in the analysis were patient demographics, presenting symptoms, tumor location, imaging, treatment, follow-up time, recurrence, and outcome. A total of 50 articles and 120 cases were included in the review. The most common presenting symptom was dyspnea (48.8%), followed by hoarseness (43.9%). LACC arose most frequently from the subglottis (56.7%). At presentation, 14.6% (13 of 89) of patients had regional disease. The average follow-up time was 54.0 months. At follow-up, distant metastasis was reported in 30 cases (33.3%). Surgery alone (43.3%) and surgery with radiotherapy (43.3%) were used most frequently and resulted in 57.1% and 55.3% of patients alive with no evidence disease at follow-up, respectively. LACC was most often located in the subglottis. Patients commonly presented with dyspnea and hoarseness. In this systematic review, surgery with radiotherapy and surgery alone were the most commonly employed treatment modalities, and both resulted in slightly more than 50% of patients alive with no evidence of disease at follow-up. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  9. Postoperative radiation therapy for adenoid cystic carcinoma

    International Nuclear Information System (INIS)

    Oguchi, Masahiko; Shikama, Naoto; Gomi, Koutarou; Shinoda, Atsunori; Nishikawa, Atsushi; Arakawa, Kazukiyo; Sasaki, Shigeru; Takei, Kazuyoshi; Sone, Syusuke

    2000-01-01

    The authors retrospectively assessed the usefulness of postoperative radiation therapy after local resection of adenoid cystic carcinoma, with emphasis on organ-conserving treatment and the cosmetic results. Between 1985 and 1995, 32 patients underwent local resection followed by postoperative radiation therapy with curative and organ-conserving intent. None of patients received any form of chemotherapy as part of their initial treatment. Radiation therapy was carried out by techniques that were appropriate for the site and extension of each tumor. The 5-year local control, disease-free, and overall survival rates of all patients were 76%, 68%, and 86%, respectively. The 5-year local control rate and disease-free survival rate of patients with microscopically positive margins were 89% and 75%, respectively, and higher than in patients with macroscopically residual disease, but no significant difference in 5-year overall survival rate was observed. The postoperative cosmetic results in 29 patients with head and neck lesions were evaluated. No difference was documented between the cosmetic results postoperatively setting and after postoperative radiotherapy, and no significant differences in cosmetic results were observed according to radiation dose. The combination of local resection with organ-conserving intent and postoperative radiation therapy provided good cosmetic results in patients with T1 or T2 lesions. Postoperative radiation therapy with smaller fractions is useful, because good local control can be achieved in patients with adenoid cystic carcinoma having microscopically positive margins without inducing any late adverse reactions. However, the number of patients was too small and the follow-up period was too short to draw any definite conclusion in regard to fraction size. A much longer follow-up study with a larger number patients will be required to accurately determine the optimal treatment intensity and duration of treatment. (K.H.)

  10. Rehabilitation of an Advanced Case of Adenoid Cystic Carcinoma

    Directory of Open Access Journals (Sweden)

    Luiz Evaristo Ricci Volpato

    2015-01-01

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

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

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    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. Copyright © 2010 Sociedade Portuguesa de Pneumologia. Published by Elsevier España. All rights reserved.

  12. Clinical analysis on nasopharyngeal adenoid cystic carcinoma

    International Nuclear Information System (INIS)

    Cao Jianzhong; Luo Jingwei; Xu Guozhen; Gao Li; Xiao Jianping; Li Suyan; Yi Junlin; Huang Xiaodong

    2009-01-01

    Objective: To investigate the clinical features, treatment outcome and prognosis of patients with nasopharyngeal adenoid cystic carcinoma(ACC). Methods: From March 1963 to August 2002, 33 patients with ACC were retrospectively reviewed. Among them, 13 received multimodality therapy (S + R in 9 and R + S in 4) and the remaining 20 received radiotherapy alone. The interval between the first visit and clinical diagnosis was 12 months (1.0-36.4 months). The misdiagnosis rate was 55% (18/33 ), with the most common error of otitis media. The clinical symptoms of ACC were similar to those of squamous carcinoma in nasopharynx, though the cervical lymph node metastasis was rare (12%) and cranial nerve invasion was common (58%). Results: After a median follow-up of 60.8 months (5.0-245.2 months), the 5- and 10-year overall survival rates, free-disease survival rates, local regional control rates and metastasis-free survival rates were 66% and 29%, 41% and 27%, 61% and 40%, 62% and 62%, respectively. Among the 20 patients (61%) with recurrence, 15 had local regional failure (13 in situ and 2 in cervical lymph node), and 9 had distant metastasis (5 in the lung, 2 in the lung and bone, 1 in the liver and 1 in the bone). Univariate analysis showed that clinical stage was a prognostic factor (I + II vs III + IV, P=0.009), while treatment modality(radiotherapy alone vs multimodality therapy) was not. Conclusions: Nasopharyngeal ACC is a locally aggressive disease with a long course. Either radiotherapy alone or multimodality therapy( S + R/R + S) is effective in the treatment. (authors)

  13. Adenoid Cystic Carcinoma: A Case Report | Payal | International ...

    African Journals Online (AJOL)

    Adenoid cystic carcinoma (ACC) accounts for approximately 10 % of all salivary gland tumors. It is the most common malignant tumor of submandibular and minor salivary glands. The most common location is the palate, generally in the area of the greater foramen. ACC is generally characterized by a slow growth rate, and ...

  14. Adenoid cystic carcinoma of the breast at Enugu Nigeria | Njeze ...

    African Journals Online (AJOL)

    Background: (Adenoid cystic carcinoma (ACC) of the breast is a rare type of neoplasm that is histologically indistinguishable from other examples in other sites and generally has a good prognosis). To characterize the clinical and pathological features of ACC in our environment, as well as the treatment offered to our ...

  15. Adenoid cystic carcinoma of the trachea: A clinico-pathological ...

    African Journals Online (AJOL)

    Primary malignant tracheal tumors are not common and adenoid cystic carcinoma (ACC) of trachea is very rare. The diagnosis is often delayed due to the atypical symptoms. We report an extremely rare case of ACC of proximal trachea, in a 55-year-old female who presented with a 12 month history of progressive dyspnea.

  16. Adenoid cystic carcinoma of the mandible : Case report | Lawal ...

    African Journals Online (AJOL)

    It usually occurs in the posterior mandible of adults where it causes pain due to perineural invasion (neurotropism) (1,2,3) to the best of our knowledge, only 17 cases of centrally located/primary intraosseous ACC have been reported in literature (2). We hereby report a case of primary intraosseous adenoid cystic carcinoma ...

  17. Giant adenoid cystic carcinoma of the sinonasal cavity | Touati | Pan ...

    African Journals Online (AJOL)

    Adenoid cystic carcinomas, formerly known cylindromas, were originally described by Foote and Frozell 1953. These are epithelial malignancies that develop at the expense of salivary glands, other rare localizations have been described in particular in the oral cavity, the sinonasal tract, lacrimal glands or nasopharynx.

  18. Primary inter-osseous adenoid cystic carcenoma of the mandible ...

    African Journals Online (AJOL)

    Password, Remember me, or Register. DOWNLOAD FULL TEXT Open Access DOWNLOAD FULL TEXT Subscription or Fee Access. Primary inter-osseous adenoid cystic carcenoma of the mandible. KJ Koech, ML Chindia, AK Njiru. Abstract. No Abstract. African Journal of Oral Health Sciences Vol. 5 (1) 2007: pp. 11-13 ...

  19. Adenoid cystic carcinoma in head and neck

    International Nuclear Information System (INIS)

    Aslam, M. A.

    2002-01-01

    Objective: To analyze adenoid cystic carcinoma (ACC) in head and neck region with respect to age, sex, site of origin, histological type, role of Fine Needle Aspiration Cytology (FNAC) in diagnosis, metastasis, various treatment modalities and their effectiveness in local control of disease. Design: A descriptive study. Place and Duration of Study: Department of Otolaryngology and Head and Neck Surgery, Pakistan Institute of Medical Sciences, Islamabad from January, 1988 to December 1998. Patients and Methods: Case histories of 26 patients with histologically proven ACC in the head and neck region were selected from the departmental record. Clinical data included age and sex of patient, tumor location, presenting symptoms FNAC reports, predominant histological pattern of tumor, tumor stage, treatment modality, tumor recurrences and metastasis and final clinical status. Results: Among 26 cases, there were 16 males and 10 females. The mean age was 52 years (Range 30-75 years). In 57.7% patients, tumor was located in minor salivary glands whereas in 42.3% , major salivary glands were the site of origin. Plate was the commonest site of origin. FNAC reports showed ACC in 76.9% patients. In 80.8% patients, histopathological reports clearly mentioned the predominant histological type of ACC. Histological pattern was 66.6% cribriform, 23.8% tubular and 9.5% were of solid pattern, Regional lymph node metastasis was found in only 7.6%. Distant metastasis developed in 11.5%, whereas 69.2% patients were treated by surgery followed by postoperative radiotherapy, only 11.1% develop recurrence at the primary site. Radiotherapy was given to only one patient (3.8%), who was alive with disease at the time of last follow up. Conclusion: The peak age incidence of ACC in head and neck region was in 5th decade with slight male preponderance. Tumor was more common in minor salivary glands and palate was the commonest site of origin. FNAC was helpful in diagnosis of ACC in majority of

  20. Adenoid cystic carcinoma: a retrospective clinical review.

    Science.gov (United States)

    Khan, A J; DiGiovanna, M P; Ross, D A; Sasaki, C T; Carter, D; Son, Y H; Haffty, B G

    2001-06-20

    Adenoid cystic carcinoma (ACC) are uncommon tumors, representing about 10% to 15% of head and neck tumors. We compare the survival and control rates at our institution with those reported in the literature, and examine putative predictors of outcome. All patients registered with the tumor registry as having had ACC were identified. Demographic and survival variables were retrieved from the database. Additionally, a chart review of all patients was done to obtain specific information. Minor gland tumors were staged using the American Joint Committee on Cancer's criteria for squamous cell carcinomas in identical sites. Histopathologic variables retrieved included grade of the tumor, margins, and perineural invasion. Treatment modalities, field sizes, and radiation doses were recorded in applicable cases. An effort to retrieve archival tumor specimens for immunohistochemical analysis was undertaken. A total of 69 patients were treated for ACC from 1955 to 1999. One patient, who presented with fatal brain metastasis, was excluded from further analysis. Of the remaining 68 patients, 30 were men and 38 were women. The average age at diagnosis was 52 years, and mean follow-up was 13.2 years. Mean survival was 7.7 years. Overall survival (OS) rates at 5, 10, and 15 years were 72%, 44%, and 34%, and cause-specific survival was 83%, 71%, and 55%, respectively. Recurrence-free survival rates were 65%, 52%, and 30% at 5, 10, and 15 years, with a total of 29 of 68 (43%) eventually suffering a recurrence. Overall survival was adversely affected by advancing T and AJCC stage. Higher tumor grades were also associated with decreased OS, although the numbers compared were small. Primaries of the nasosinal region fared poorly when compared with other locations. Total recurrence-free survival, local and distant recurrence rates were distinctly better in primaries of the oral cavity/oropharynx when compared with those in other locations. Reduced distant recurrence-free survival was

  1. Adenoid cystic carcinoma of the breast; Carcinome adenoide kystique du sein

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    Kallel, R.; Bahri Zouari, I.; Gouiaa, N.; Charfi, S.; Ayadi, L.; Makni, S.; Sellami Boudawara, T. [CHU Habib-Bourguiba, Lab. d' Anatomie et de Cytologie Pathologiques, Sfax (Tunisia); Daoud, E. [CHU Habib Bourguiba, Service de Radiologie, Sfax (Tunisia); Daoud, J. [CHU Habib Bourguiba, Service de Radiotherapie, Sfax (Tunisia)

    2009-07-15

    Adenoid cystic carcinoma of the breast is a rare neoplasm, accounting for only 0.1% of all malignant breast tumours. It is more common in women in the sixth decade of their lives and often in the sub areolar area. The clinical criteria is not specific and the radiographic examination showed a benign-appearing tumour. The preoperative diagnosis is possible with fine-needle aspiration cytology. The diagnosis is made by histological examination, presented a difficult differential diagnosis with cribriform carcinoma; so it is necessary to use histochemical or immunohistochemical techniques. The treatment is not well established. It consists of lumpectomy with radiation or mastectomy. Compared to other locations, adenoid cystic carcinoma of the breast has a favorable prognosis. Lymph node involvement or distant metastases seldom occur. The aim of our study is to describe the epidemiological, clinico pathological characteristics, the treatment and the prognosis of this rare type of breast tumour. (authors)

  2. Adenoid cystic carcinoma of the minor salivary glands

    International Nuclear Information System (INIS)

    Kwon, Kyung Yun; Lee, Kyung Ho; Kim, Dong Youn; Choi, Karp Shik

    1997-01-01

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

  3. Pulmonar collision tumor: Metastatic adenoid cystic carcinoma and lung adenocarcinoma

    Directory of Open Access Journals (Sweden)

    M. Blanco

    2012-01-01

    Full Text Available Summary: 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. Resumo: Descrevemos um caso único de tumor de colisão constituído por um adenocarcinoma de pulmão e uma metástase dum carcinoma adenóide cístico em um homem de 56 anos de idade. Ao doente foi diagnosticado um nódulo pulmonar 11 anos após o tratamento de um carcinoma adenóide cístico do seio maxilar direito. O carcinoma de pulmão de não pequenas células foi observado no momento da realização de uma biópsia transbrônquica. O outro componente do nódulo foi diagnosticado depois do exame histológico do material ressecado. Keywords: Bronchogenic carcinoma, Collision tumor, Adenoid cystic carcinoma, Palavras-chave: Carcinoma broncogénico, Tumor de colisão, Carcinoma adenóide cístico

  4. Imaging diagnosis of primary tracheal adenoid cystic carcinoma

    International Nuclear Information System (INIS)

    Lai Qing; Cai Chaoda

    2003-01-01

    Objective: To improve the imaging diagnosis of the primary tracheal adenoid cystic carcinoma (ACC). Methods: Clinical manifestations and imaging findings were retrospectively studied in 20 cases of ACC proved by histological examinations. Results: ACC is often found in the posterior wall of trachea in younger patients. ACC grew slowly and lymphatic metastasis was rare. The nodular, diffuse or infiltrative growth of ACC was revealed on tomography, CT, MPR with spiral CT scan and MRI. Conclusion: Like other tracheal tumor, ACC can easily be miss-diagnosed. With further understanding of imaging findings and a clinical concern, the early diagnosis can be obtained in most patients with ACC

  5. Adenoid Cystic Carcinoma of the Nasal Cavity and Paranasal Sinuses

    DEFF Research Database (Denmark)

    Amit, Moran; Binenbaum, Yoav; Sharma, Kanika

    2013-01-01

    Objectives To identify independent predictors of outcome in patients with adenoid cystic carcinoma (ACC) of the paranasal sinuses and skull base. Design Meta-analysis of the literature and data from the International ACC Study Group. Setting University-affiliated medical center. Participants......%, respectively. The local recurrence rate was 36.6%, and the regional recurrence rate was 7%. Distant metastasis, most commonly present in the lung, was recorded in 106 patients (29.1%). In the international cohort, positive margins and ACC of the sphenoid or ethmoidal sinuses were significant predictors...... of outcome (p sinuses, whereas perineural invasion is not. Adjuvant treatment apparently...

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

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    Song, Ji Young [Dept. of Oral and Maxillofacial Surgery, School of Medicine, Jeju National University, Jeju (Korea, Republic of)

    2016-12-15

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

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

    International Nuclear Information System (INIS)

    Song, Ji Young

    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

  8. The CT evaluation of cephalic and cervical adenoid cystic carcinoma

    International Nuclear Information System (INIS)

    Gu Yajia; Wang Jiuhua; Wang HOngshi; Chen Tongzhen

    2000-01-01

    Objective: To evaluate the CT manifestations of cephalic and cervical adenoid cystic carcinoma (ACC). Methods: Thirty-three cases of ACC were analyzed retrospectively. Of all cases, 22 cases underwent operation and 11 cases received radiotherapy. The manifestations of CT were evaluated and compared with the clinical and pathologic results. Results: Tumors originated from parotid gland (5 cases), floor of mouth (5 cases), nasal cavity and nasopharynx (5 cases), tongue (4 cases), palate (3 cases), tracheas (3 cases), submandibular gland (2 cases), tonsilla (2 cases), maxillary sinus (2 cases), and cheek (2 cases), respectively. The CT manifestations included: (1)ethmoid density in 21 cases, partial ethmoid density in 5 cases. (2)the morphology of ACC was irregular and the growth of the tumor was amorphous in 17 cases, and the margin of the tumor was vague in 20 cases. (3)ACC often grew along the nerve with infiltration, which caused destruction of the skull base in 5 cases and atrophy of mastication muscles and/or buccinator in 3 cases. Conclusion: (1)The characteristics of cephalic and cervical adenoid cystic carcinoma on CT scans were ethmoid density, infiltrated growth, growing along the nerve with infiltration, and submucous growth. Among them, the most important manifestation, which could lead to the histologic diagnosis on CT, was ethmoid density. (2)The range of ACC was usually underestimated on CT. (3)The manifestation of tumor growth along the nerve could be apparently displayed on MRI

  9. AKT3 drives adenoid cystic carcinoma development in salivary glands.

    Science.gov (United States)

    Zboray, Katalin; Mohrherr, Julian; Stiedl, Patricia; Pranz, Klemens; Wandruszka, Laura; Grabner, Beatrice; Eferl, Robert; Moriggl, Richard; Stoiber, Dagmar; Sakamoto, Kazuhito; Wagner, Kay-Uwe; Popper, Helmut; Casanova, Emilio; Moll, Herwig P

    2018-02-01

    Salivary gland cancer is an aggressive and painful cancer, but a rare tumor type accounting for only ~0.5% of cancer cases. Tumors of the salivary gland exhibit heterogeneous histologic and genetic features and they are subdivided into different subtypes, with adenoid cystic carcinomas (ACC) being one of the most abundant. Treatment of ACC patients is afflicted by high recurrence rates, the high potential of the tumors to metastasize, as well as the poor response of ACC to chemotherapy. A prerequisite for the development of targeted therapies is insightful genetic information for driver core cancer pathways. Here, we developed a transgenic mouse model toward establishment of a preclinical model. There is currently no available mouse model for adenoid cystic carcinomas as a rare disease entity to serve as a test system to block salivary gland tumors with targeted therapy. Based on tumor genomic data of ACC patients, a key role for the activation of the PI3K-AKT-mTOR pathway was suggested in tumors of secretory glands. Therefore, we investigated the role of Akt3 expression in tumorigenesis and report that Akt3 overexpression results in ACC of salivary glands with 100% penetrance, while abrogation of transgenic Akt3 expression could revert the phenotype. In summary, our findings validate a novel mouse model to study ACC and highlight the druggable potential of AKT3 in the treatment of salivary gland patients. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  10. Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands.

    Directory of Open Access Journals (Sweden)

    Suhail K Mithani

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

  11. Fine Needle Aspiration Cytology of Basal Cell Adenoma of Parotid Simulating Adenoid Cystic Carcinoma.

    Science.gov (United States)

    Pal, Subrata; Mondal, Palash Kr; Sharma, Abhishek; Sikder, Mrinal

    2018-01-01

    Basal cell adenoma is a rare type of monomorphic salivary adenoma most commonly involving the parotid gland. Cytology of basal cell adenoma closely mimics many other benign and malignant basaloid neoplasms. Cytological features of membranous basal cell adenoma simulate adenoid cystic carcinoma in fine needle aspiration cytology (FNAC) smears. Here, we are presenting a rare case of cytodiagnosis of membranous basal cell adenoma of parotid gland in an elderly lady, which mimicked adenoid cystic carcinoma on FNAC. We discuss the cytomorphology of this rare case with an emphasis on cytological difference between membranous basal cell carcinoma and adenoid cystic carcinoma as well as other basaloid neoplasms.

  12. Brain and lung metastasis of Bartholin?s gland adenoid cystic carcinoma: a case report

    OpenAIRE

    Ramanah, Rajeev; Allam-Ndoul, Edith; Baeza, Claire; Riethmuller, Didier

    2013-01-01

    Introduction Adenoid cystic carcinoma of Bartholin?s gland is a very rare disease. Case presentation A 48-year-old premenopausal woman of Caucasian origin was delivered adjuvant pelvic and inguinal radiotherapy after prior complete left Bartholin?s gland tumor excision and inguinal lymph node dissection for adenoid cystic carcinoma of Bartholin?s gland with one metastatic inguinal lymph node. Two years after primary treatment, she presented to the Emergency Room with acute headache, hypoacous...

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

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    Prasannasrinivas Suresh Deshpande

    2013-01-01

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

  14. Clinical study on adenoid cystic carcinoma in the nasal cavity

    International Nuclear Information System (INIS)

    Hu Weihan; Xie Fangyun; Li Qun; Lai Yueyuan; Wu Yong; Chen Dezhu

    2003-01-01

    Objective: To identify pertinent prognostic variables related to adenoid cystic carcinoma (ACC) in the nasal cavity. Methods: A statistic analysis of the clinical results and prognosticators was performed on 38 cases with primary ACC in the nasal cavity. Kaplan-Meier method was used for survival analysis and Log-rank test in comparison, Cox proportional hazard model in multivariate analysis. Results: The 5-, 10- year survival rates were 100% and 88.9% in patients whose lesions disappeared completely after their treatment, whereas 48.0% and 0% in patients with lesion which remained (P 0.05). Multivariate analysis revealed that the therapeutic response and clinical stage were independent factors of prognosis. Conclusions: The authors recommend combined therapy for ACC in the nasal cavity. And clinical stage, treatment approach and short-term therapeutic response are identified as ACC predictors

  15. Imaging diagnosis of adenoid cystic carcinoma: analysis of 32 cases

    International Nuclear Information System (INIS)

    Zhang Weihong; Chen Zhengguang; Wu Xi; Yan Hongzhen; Cai Feng; Ni Daofeng; Gao Zhiqiang

    1998-01-01

    Purpose: To evaluate the clinical findings and imaging characteristics of adenoid cystic carcinomas (ACC). Methods: The case histories of 32 patients with ACC proven at histologic examination were retrospectively reviewed. There were twenty male patients and twelve female patients aged 21-73 with an average of 46.2. Results: ACC appeared as poorly defined neoplasms with infiltrative margins. Computed tomography was useful to demonstrate bone destruction. Magnetic resonance imaging depicted the lesion and its extension in its entirely. Signal intensity on T 2 -weighted MR images correlated with the degree of cellularity of the lesion, and might help determine the prognosis of the lesion. Conclusion: ACC imaging is lack of specificity, and biopsy remains mandatory but tendency to spread through perineural spaces and few lymphatic metastasis are the common characteristics of ACC. Imaging examination defines the tumor and its extension and enables effective therapeutic planning and follow-up evaluation

  16. Radiological features of adenoid cystic carcinoma of the uterine cervix

    International Nuclear Information System (INIS)

    Kaku, Ayumi; Kiyosue, Hiro; Matsumoto, Shunro; Mori, Hiromu; Kashima, Kenji; Miyakawa, Isao

    2005-01-01

    Adenoid cystic carcinoma (ACC) of the uterine cervix is a rare primary neoplasm of the uterus that occurs in post-menopausal women; its radiological findings have not been described previously. We present the MR findings of a case of ACC. The mass exhibited homogeneous low-signal intensity on T1-weighted images. On T2-weighted images, the mass showed high-signal intensity with a lobulated contour and multiple septum-like internal architectures. It also contained spots of very high-signal intensity, which would represent the mucin in the glandular lumen. The multiple septum-like internal architectures probably represented interglandular fibrous stroma. These MRI findings may be helpful for future diagnoses of ACC of the uterine cervix. (orig.)

  17. Adenoid cystic carcinoma of sublingual glands. Surgery and radiotherapy combination

    International Nuclear Information System (INIS)

    Campagnale, Ramiro; Campagnale, Rodrigo; Varalli, Lucas

    2005-01-01

    The Adenoid Cystic Carcinoma (ACC) or Cilindroma is a strange entity classified by the WHO within the carcinomas of salivary glands. It represents only 1 % of all the wicked tumours of the oral and maxillofacial region although, when making reference to the salivary glands, it constitutes 5% of the parotid, submaxilar and sublingual carcinomas, and about 50% of the smallest ones. The most frequent location is in the palatine glands and its main characteristics are: slow but persistent growth, high rates of local relapse and metastasis at distance originating the death between the first 5 and 10 years in 50-70% of the cases approximately. A case of localization is presented in sublingual gland which was first treated surgically and later with radiotherapy, obtaining good results. (author) [es

  18. Tubular adenoid cystic carcinoma of palate: A rare case report

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    Deepanshu Garg

    2015-01-01

    Full Text Available Adenoid cystic carcinoma (ACC is a rare malignant tumor that affects the major and minor salivary glands, the lacrimal glands, the ceruminous glands and occasionally the excretory glands of the female genital tract. 30-40% of these carcinomas occur in the head and neck region. Approximately 50-70% of the cases have been reported in the minor salivary glands. The most common location is the palate, generally in the area of the greater palatine foramen. ACC is generally characterized by a slow growth rate, and it is often present for several years before the patient seeks treatment. Here we present a case of 42-year-old female who came to the department for the complaint of a swelling over the right side of palate since 2-3 months which was diagnosed as a benign tumor initially, but was confirmed as tubular ACC histologically.

  19. Adenoid cystic carcinoma of the mobile tongue: A rare case

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    Pavitra Baskaran

    2012-01-01

    Full Text Available Adenoid cystic carcinoma (ACC occurs more commonly in the minor salivary glands of the palate on than the tongue. ACC is a malignant neoplasm that accounts for 1-2% of all head and neck malignancies and 10-15% of all salivary gland malignancies. ACC affects the exocrine glands at any site, but the parotid gland is the most common site in the head and neck region. Many factors should be taken into account in the prognosis of ACC, including the histological and clinical stages of the disease. The most striking feature of ACC is that it is locally aggressive, with a high recurrence level, perineural invasion and distant metastases, especially to the lungs and bones. The most common presentation histologically is the presence of cribriform appearance (Swiss cheese pattern. The present case is a rare one present on the tongue.

  20. Neutron radiotherapy for adenoid cystic carcinoma of minor salivary glands

    International Nuclear Information System (INIS)

    Douglas, James G.; Laramore, George E.; Austin-Seymour, Mary; Wui-Jin, Koh; Lindsley, Karen L.; Cho, Paul; Griffin, Thomas W.

    1996-01-01

    Purpose: To examine the efficacy of fast neutron radiotherapy for the treatment of patients with locally advanced, adenoid cystic carcinoma of minor salivary glands and to identify prognostic variables associated with local control, overall survival, and cause specific survival. Methods and Materials: Eighty-four patients having adenoid cystic carcinoma of minor salivary glands were treated with fast neutron radiotherapy during the years 1985-1994. All patients had either unresectable disease or gross disease remaining after attempted surgical extirpation. Seventeen patients had previously received conventional radiotherapy and their subsequent treatment fields and doses for neutron radiotherapy were modified for critical sites (brainstem, spinal cord, brain). Although the median doses (tumor maximum and tumor minimum) only varied by ≤10%, treatment portals were substantially smaller in these patients because of normal tissue complication considerations. Twelve patients (13%) had distant metastases at the time of treatment and were only treated palliatively with smaller treatment portals and lower median tumor doses (≤80% of the doses delivered to curatively treated patients). Seventy-two patients were treated with curative intent, with nine of these having recurrent tumors after prior full-dose radiotherapy. The median duration of follow-up at the time of analysis was 31.5 months (range 3-115). Sites of disease and number of patients treated per disease site were as follows: paranasal sinus--31; oral cavity--20; oropharynx--12; nasopharynx--11; trachea--6; and other sites in the head and neck--4. Results: The 5-year actuarial local-regional tumor control rate for all patients treated with curative intent was 47%. Patients without involvement of the cavernous sinus, base of skull, or nasopharynx (51 patients) had a 5-year actuarial local-regional control rate of 59%, whereas local-regional control was significantly lower (15%) for patients with tumors involving

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

    Science.gov (United States)

    2017-03-06

    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

  2. Laryngeal Preservation in Managing Advanced Tracheal Adenoid Cystic Carcinoma

    Directory of Open Access Journals (Sweden)

    Thavakumar Subramaniam

    2015-01-01

    Full Text Available A 37-year-old male athlete was diagnosed with primary tracheal adenoid cystic carcinoma following investigation for dyspnea, wheeze, and eventual stridor. Preoperative bronchoscopy revealed a highly vascular tumor 4 cm distal to the cricoid with no gross disease extending to the carina. Imaging revealed circumferential tracheal irregularity immediately inferior to the cricoid, with no definite cricoid invasion. Locoregional extension of disease was noted invading the thyroid and abutment of the carotid approximately 180°. Intraoperative findings identified tracheal mucosal disease extending distal to the carina and proximally at the cricothyroid joints where bilateral functional recurrent nerves were preserved. A decision made to preserve the larynx given the inability to fully resect distal tracheal disease. A 5 cm sleeve resection of the trachea was made with a cricotracheal anastomosis following suprahyoidal muscle release and laryngeal drop-down. The patient was treated with adjuvant radiotherapy including platinum based chemotherapy in an effort to maximise local control. PET scanning three months after therapy revealed no FDG uptake locally or distally.

  3. Clinical study of adenoid cystic carcinoma of the parotid gland

    International Nuclear Information System (INIS)

    Adachi, Mari; Lee, Shinryu; Iwai, Hiroshi; Yagi, Masao; Minamino, Masayuki; Omae, Mariko; Yamashita, Toshio

    2007-01-01

    We report results of a retrospective study of 12 cases of adenoid cystic carcinoma (ACC) in the parotid gland. Local pain was often observed in ACC among other malignant parotid tumors. Although fine-needle aspiration cytology (FNA) was not effective for preoperative diagnosis, frozen section diagnosis (FS) during surgery showed excellent results. Cases with T3 or T4 underwent total or enlarged parotidectomy, but, often showed positive surgical margins. Postoperative radiation therapy seemed useful in these cases and the 5- and 10- year disease-specific survivals in these 12 cases were 90.0% and 80.8%. These compare favorably with other reports in the literature. All 12 cases showed N0 and no cervical relapse with or without neck dissection, indicating little effectiveness in prophylactic neck dissection. Tumor size, positive surgical margins, and perineural invasion are risk factors for this tumor as mention previously. Patients with perineural invasion, especially preoperative facial nerve palsy (T4a), are more likely to fail than those with two other factors, so, it seems conceivable for cases of T4a to undergo more positive treatment with surgery and postoperative radiation. (author)

  4. Adenoid cystic carcinoma of the external auditory canal

    Directory of Open Access Journals (Sweden)

    Shao-Cheng Liu

    2012-06-01

    Full Text Available Primary cancers of the external auditory canal (EAC are rare and most are squamous cell carcinomas. We report the case of a 78-year-old man who visited our institution with a 5-month history of right-side intermittent otalgia and ear fullness. Otoscopic examination showed a bulging mass arising from the superior and posterior aspects of the right EAC, and incision biopsy confirmed the lesion as adenoid cystic carcinoma (ACC. Lateral temporal bone resectionin conjunction with total parotidectomy and neck dissection was subsequently performed. Postoperative adjuvant radiotherapy was administered and no recurrence was noted at a 26-month follow-up. We review the medical literature on the topic and suggest that early diagnosis is still the best option for successful treatment of this neoplasm. ACC arising in the EACmust be removed using radical procedures to increase the chance of local control. Subsequent metastasis that tends to develop in the lungs and regional lymph nodes is best evaluated regularly using computed tomography examination.

  5. Pitfalls in magnetic resonance imaging of adenoid cystic carcinoma of the airways

    International Nuclear Information System (INIS)

    Embry, R.L.; Shanley, D.J.; Daum-Kowalski, R.

    1992-01-01

    Involvement of the airways by adenoid cystic carcinoma is best evaluated with multiple sequences of MRI in various planes, as long as the interpreting physician is aware of the potential pitfalls. Adenoid cystic carcinoma (cylindroma) of the airways is an uncommon malignancy which can be treated with positive results by surgery and radiation therapy. Pre-therapeutic assessment is important in determining the extent of local tumor invasion and the involvement of mediastinal structures, especially if surgery is proposed as part of the therapy. A case of adenoid cystic carcinoma of the airways with multi-planar MRI in multiple sequences is presented, together with a discussion of the pitfalls of chemical shift artifact in the distal trachea. (orig.)

  6. Choroidal metastasis of a minor salivary gland adenoid cystic carcinoma: A case report.

    Science.gov (United States)

    Portilla Blanco, R R; Roberts Martínez-Aguirre, I; Pontón Méndez, P; Zarzosa Martín, M E; Pérez-Salvador García, E

    2018-03-21

    A 61-year-old man with a lower lip minor salivary gland adenoid cystic carcinoma, suffered from a unilateral progressive visual acuity loss due to choroidal metastasis. Adenoid cystic carcinoma is a rare primary tumour with significant metastatic potential. Our patient presented with a unilateral choroidal metastasis. According to the current literature, 8 cases of choroidal metastasis of salivary gland adenoid cystic carcinoma have been reported. This is the second case reported of choroidal metastasis with origin in a minor salivary gland, and the first one with origin in the minor salivary glands of the lower lip. Copyright © 2018 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Adenoid cystic carcinoma of the breast, high grade with basal phenotype, literature review

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    Enaam Junainah

    Full Text Available Adenoid cystic carcinoma (ACC is a rare type of breast carcinoma resembling adenoid cystic carcinoma of other sites. this type of tumors usually characterized by the exhibiting dual cell population of luminal and basaloid with specific growth pattern Most of these sub types are triple-negative with basal-like breast features (tumors that are devoid of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 expression, and express basal cell markers, they are usually low-grade but can be high grade, clinical behavior is indolent despite the nuclear grade, lymph node involvement or distant metastases which is rarely occur. Treatment is either simple mastectomy or lumpectomy. Chemotherapy, radiation and hormonal treatment have limited used in those cases. Keywords: Adenoid cystic carcinoma, Breast, Triple-negative and basal-like phenotype

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

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    Seokhwi Kim

    2015-11-01

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

  9. Primary cutaneous adenoid cystic carcinoma of the chest wall: A rare entity

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    Sujata Raychaudhuri

    2012-01-01

    Full Text Available Primary Cutaneous Adenoid Cystic Carcinoma (PCACC is a rare form of cutaneous carcinoma. It closely resembles adenoid cystic carcinoma of salivary glands. The lesion tends to infiltrate and recur locally but rarely metastasizes to distant organs and lymph nodes. We present here a case of a31-year-old male with complaints of swellings in the chest wall and scalp, progressively increasing in size over a period of 10 years. Clinical diagnosis of sebaceous cysts of scalp and chest wall was made. Histopathology revealed PCACC of the chest wall and dermoid cyst of the scalp.

  10. Cystic adenoid carcinoma of the external auditory meatus with mastoid involvement

    Directory of Open Access Journals (Sweden)

    Tinoco, Paulo

    2009-06-01

    Full Text Available Introduction: The cystic adenoid carcinoma (CAC in the external auditory meatus is rare and was originated in the ceruminous glands. It is manifested by otalgia in about 90% of the patients. Case Report: In this article we report the case of a patient with Cystic Adenoid Carcinoma of the external auditory meatus with mastoid involvement that presented peripheral facial paralysis. The treatment is essentially surgical, combined or not with postoperative radiotherapy. The factors of bad prognosis are the tumor expansion, facial nerve and middle ear invasion and lymph node affection, which diminish the survival in five years from 59% to 23%.

  11. Genomic landscape of adenoid cystic carcinoma of the breast.

    Science.gov (United States)

    Martelotto, Luciano G; De Filippo, Maria R; Ng, Charlotte K Y; 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

    2015-10-01

    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 harbour mutations targeting chromatin remodelling, cell adhesion, RNA biology, ubiquitination and canonical signalling pathway genes. We observed that, although breast AdCCs had rather simple genomes, they likely display intra-tumour 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 histological subtyping of TNBCs. Furthermore, our data provide direct evidence that AdCCs harbour a distinctive mutational landscape and genomic structure, irrespective of the disease site of origin. Copyright © 2015 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  12. Glottic-SubGlottic adenoid cystic carcinoma. A case report and review of the literature

    Science.gov (United States)

    2013-01-01

    Background Malignant tumours of minor salivary glands are uncommon, representing only 2-4% of all head and neck cancers. In the larynx, minor salivary gland tumours rarely occur and constitute less than 1% of laryngeal neoplasm. Most of the minor salivary gland tumours arise in the subglottis; however, they can also occur in the supraglottis, in the false vocal cords, aryepiglottic folds and caudal portion of the epiglottis. The most common type of malignant minor salivary gland tumour is adenoid cystic carcinoma. Methods We present a unusual case of adenoid cystic carcinoma of glottic-subglottic region in a 61-year-old woman. Follow-up endoscopy and laryngeal magnetic resonance imaging (MRI) at three years after treatment showed no recurrence of the tumour. Results The diagnosis of glottic-subglottic adenoid cystic carcinoma should be considered in patients who are characterized by dyspnea, cough and stridor, but do not respond to pharmacologic approach. Conclusions Adenoid cystic carcinoma is usually a very slow growing cancer, invested by an apparently normal laryngeal mucosa, so that it can show no clear symptoms for a long time. For these reasons the increasing number of diagnostic mistakes or late diagnosis that may be fatal in some cases. PMID:24427787

  13. Defining the surgical margins of adenoid cystic carcinoma and their impact on outcome

    DEFF Research Database (Denmark)

    Amit, Moran; Na'ara, Shorook; Trejo-Leider, Leonor

    2017-01-01

    Background: The mainstay of treatment in adenoid cystic carcinoma (ACC) of the head and neck is surgical resection with negative margins. The purpose of this study was to define the margin status that associates with survival outcomes of ACC of the head and neck. Methods: We conducted univariate ...

  14. Cervical Lymph Node Metastasis: Unusual Presentation of Adenoid Cystic Carcinoma - Diagnosed By FNAC

    Directory of Open Access Journals (Sweden)

    Archana Buch

    2015-01-01

    Full Text Available Adenoid cystic carcinoma (ACC is a rare neoplasm that usually arises from minor salivary glands. It is characteristically locally infiltrative, exhibiting perineural invasion, has a tendency for local recurrence and prolonged clinical course. A 60 year old male, chronic smoker presented with swelling of the left cervical lymph node since two months. Examination revealed a solitary firm, non tender, non mobile left cervical swelling measuring 2 x 1 cm. Fine Needle Aspiration Cytology (FNAC was done from the cervical lymph node. The diagnosis of metastatic deposits of ACC was given. Detail examination of the oral cavity revealed a small swelling at the floor of the mouth. Biopsy of the swelling confirmed ACC on histopathological examination. An unusual feature of adenoid cystic carcinoma is the low incidence of metastases to regional lymph nodes. The case is presented to highlight its unusual presentation and utility of FNAC in rapid diagnosis.

  15. Detection of atypical metastases in recurrent adenoid cystic carcinoma of parotid gland

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    Anshu Tewari

    2013-01-01

    Full Text Available We report a known case of adenoid cystic carcinoma of right parotid gland in a 36-year-old Indian male, diagnosed 5 years ago for which he underwent surgery followed by radiotherapy. Now the patient has presented to the surgical oncologist with a mass near angle of right jaw. Computed tomography (CT performed elsewhere was reported negative for local recurrence. Subsequently, 18 F Fluorodeoxyglucose positron emission tomography-CT (FDG PET-CT demonstrated local recurrence in right parotid bed. Surprisingly, metabolically active metastatic skeletal deposits were also identified, thus the disease was upstaged and management was changed. Trucut biopsy from left iliac bone lesion confirmed metastases from adenoid cystic carcinoma. Thus a whole body PET-CT has a significant impact on management of patients with salivary gland malignancies in assessing both local recurrence as well as distant metastases, especially in atypical and unsuspected sites.

  16. Aggressive adenoid cystic carcinoma involving palate extending to maxillary sinus in a young female

    Directory of Open Access Journals (Sweden)

    Santosh R Patil

    2016-01-01

    Full Text Available Adenoid cystic carcinoma (ACC is a rare malignant tumor that affects the head and neck region. It is a malignant tumor arising from minor salivary glands, palate being the most common intraoral location, usually affecting individuals of the fifth decade. This tumor generally has a slow growth rate, and it is often present for several years before the patient seeks treatment. We report a case of extensive ACC involving palate, extending to a maxillary sinus in a young lady.

  17. Suprabasin Is Hypomethylated and Associated with Metastasis in Salivary Adenoid Cystic Carcinoma

    OpenAIRE

    Shao, Chunbo; Tan, Marietta; Bishop, Justin A.; Liu, Jia; Bai, Weiliang; Gaykalova, Daria A.; Ogawa, Takenori; Vikani, Ami R.; Agrawal, Yuri; Li, Ryan J.; Kim, Myoung Sook; Westra, William H.; Sidransky, David; Califano, Joseph A.; Ha, Patrick K.

    2012-01-01

    Background Salivary gland adenoid cystic carcinoma (ACC) is a rare cancer, accounting for only 1% of all head and neck malignancies. ACC is well known for perineural invasion and distant metastasis, but its underlying molecular mechanisms of carcinogenesis are still unclear. Principal Findings Here, we show that a novel oncogenic candidate, suprabasin (SBSN), plays important roles in maintaining the anchorage-independent and anchorage-dependent cell proliferation in ACC by using SBSN shRNA st...

  18. Tumor-derived exosomes enhance invasion and metastasis of salivary adenoid cystic carcinoma cells.

    Science.gov (United States)

    Hou, Jin; Wang, Fangyuan; Liu, Xiaohao; Song, Mengyang; Yin, Xuemin

    2018-02-01

    Tumor-derived exosomes (TDE) have been shown to participate in different steps of the dissemination of cancer cells. However, the role of salivary adenoid cystic carcinoma-derived (SACC-derived) exosomes had not been documented in SACC. The study aims to explore the functions of SACC-derived TDE in SACC progression and investigate potential mechanisms. Salivary adenoid cystic carcinoma cell line SACC-83 was used to generate TDE. Afterward, SACC-83 or HUVECs were cocultured with or without TDE. Tumor migration, tumor invasion, and endothelial permeability were examined by wound healing assay, tumor invasion assay, endothelial permeability assay, and tumor cell transendothelial migration assay, respectively. Moreover, the expression levels of cell junction-related proteins were examined by qRT-PCR and Western blot. Salivary adenoid cystic carcinoma -83-derived exosomes were taken up by their host cells. Meanwhile, TDE increased migration and invasion capacity of SACC-83 cells and enhanced endothelial cell permeability. Furthermore, we demonstrated that the expression of cell junction-related proteins (Claudins and ZO-1) was downregulated, which is presumably involved in the TDE-mediated promotion of migration, invasion, and metastasis. The results suggested that SACC cell-derived exosomes were loaded with individual components that could enhance invasiveness and induce microenvironment changes, thus promoting SACC aggression. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Advanced Tracheal Adenoid Cystic Carcinoma with Thyroid Invasion Mimicking Thyroid Cancer Treated with Definitive Radiation: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sondos Al Khatib

    2017-08-01

    Full Text Available A 54-year-old female patient, a breast cancer survivor and a case of unresectable adenoid cystic carcinoma of the trachea, with thyroid invasion, presented with suprasternal neck swelling mimicking thyroid primary. A literature search was undertaken to highlight this rare presentation. There have been few reports in the literature describing tracheal adenoid cystic carcinoma involving the thyroid.

  20. Salivary adenoid cystic carcinoma in Denmark 1990-2005

    DEFF Research Database (Denmark)

    Bjørndal, Kristine; Krogdahl, Annelise; Therkildsen, Marianne H

    2015-01-01

    cystic carcinoma, and treated with a curative intent, were identified in the period between 1990 and 2005. Variables necessary for statistical analyses were extracted from the database. RESULTS: The 10-year crude survival and disease specific survival rates were 58% and 75%, respectively. The 10-year...

  1. A Favorable Response to Levetiracetam in a Patient with Metastatic Adenoid Cystic Carcinoma.

    Science.gov (United States)

    Sakata, Shinya; Saeki, Sho; Terasaki, Yasuhiro; Natori, Yoshihiro; Fujii, Kazuhiko

    2018-03-01

    Adenoid cystic carcinoma (ACC) is a rare cancer, and there are no standard-of-care treatments for patients with metastatic ACC. We herein report a patient with lung metastasis of ACC who achieved a favorable response to levetiracetam. A 52-year-old Japanese man was admitted to our hospital because of multiple lung metastases of ACC. We performed first-line chemotherapy with cisplatin plus gemcitabine, and subsequently oral S-1 as second-line chemotherapy, which resulted in disease progression. The patient developed symptomatic epilepsy and received levetiracetam (250 mg twice daily). At five months after the initiation of levetiracetam, chest computed tomography showed regression of the metastatic lung lesions.

  2. Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands

    DEFF Research Database (Denmark)

    Channir, Hani Ibrahim; Hansen, Thomas van Overeem; Andreasen, Simon

    2017-01-01

    Adenoid cystic carcinoma (AdCC) is a malignant salivary gland tumor. To date, no cases of AdCC in first-degree relatives have been reported in the literature. We present a 50-year-old female (Case 1) and this patients' father (Case 2), both of whom were diagnosed with AdCC of the minor salivary...... glands. Histology of Case 1 demonstrated a tubulocribriform AdCC whereas Case 2 primarily was an AdCC of solid type. Both cases harbored the MYB-NFIB gene fusion as demonstrated by FISH and RNA-sequencing. After filtering and selection of putative deleterious variants, whole exome sequencing identified...

  3. Human Papillomavirus-related Carcinoma with Adenoid Cystic-like Features of the Sinonasal Tract

    DEFF Research Database (Denmark)

    Andreasen, Simon; Bishop, J; Hansen, T V O

    2017-01-01

    with adenoid cystic carcinoma (ACC), a rare and aggressive carcinoma originating in the minor salivary glands. Termed HPV-related carcinoma with ACC-like features, only 9 cases have been reported. To clarify the occurrence of these tumours we screened a large material for presence of HPV-related ACC....... For the distinction between ACC and HPV-related ACC-like carcinoma, p16, MYB immunohistochemistry, or investigation of MYB, MYBL1, and NFIB gene status are valuable. This article is protected by copyright. All rights reserved....

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

    Science.gov (United States)

    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.

  5. Adenoid Cystic Carcinoma of Nasal Cavity in an Adolescent Male- A Rare Presentation

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    Harshi Dhingra

    2018-04-01

    Full Text Available Adenoid Cystic Carcinoma (ACC is uncommonly found outside the major or minor salivary glands and is especially rare when located in nasal cavity. A case report of 13 year old boy who presented with mass in nasal cavity and epistaxis is presented here. Endoscopic removal of mass was done and histopathology revealed ACC. ACCs are slow growing tumours with a propensity for frequent local recurrence and early perineural and haematogenous spread. Early diagnosis requires a high index of suspicion for this rare pathology.

  6. Clinicopathological study of 54 cases of adenoid cystic carcinoma in the head and neck

    International Nuclear Information System (INIS)

    Umeno, Hirohito; Miyajima, Yoshimi; Mori, Kazunori; Nakashima, Tadashi

    1997-01-01

    A retrospective analysis was performed on 54 patients with adenoid cystic carcinoma in the head and neck, treated from January 1971 to July l997 in the Kurume University Hospital. The patients consisted of 35 females and 19 males, with a mean age of 59 years. The site of the lesion was the oral cavity in 13, nasal cavity in 11, submandibular gland in 8, parotid gland in 5, paranasal sinus in 3, nasopharynx in 3, oropharynx in 3, external auditory canal in 3, orbita in 2, lip in 1, lacrimal gland in 1 and trachea in 1. The over all 5-year, 10-year and 15-year survival rates as determined by the Kaplan-Meier method were 72%, 53%, and 46%, respectively. There was no relationship between survival rate and the site of the original lesion. According to the histologic criteria reported by Szanto et al., when more than 30% of the neoplasma showed a solid pattern, its treatment outcome appeared poor. In this study, the same tendency was seen. Fifteen patients died of the tumor. Ten died of distant metastasis and 5 died of local recurrence invading the cranium. No patient died of neck metastasis. Adenoid cystic carcinoma was thought to be radioresistant, but recently some authors have reported this tumor as radiosensitive. This study also showed that postoperative radiotherapy was effective, producing an increase in the survival rate. (author)

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

    Science.gov (United States)

    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.

  8. Management of salivary gland adenoid cystic carcinoma: institutional experience of a case series

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    Alfio José Tincani

    Full Text Available CONTEXT AND OBJECTIVE: Salivary gland tumor management requires long-term follow-up because of tumor indolence and possible late recurrence and distant metastasis. Adenoid cystic carcinoma (ACC accounts for 10-15% of such tumors. The aim here was to evaluate surgical and clinical management, staging and follow-up of ACC patients in one academic institution. DESIGN AND SETTING: Retrospective study at Head and Neck Service, Universidade Estadual de Campinas. METHODS: Data on 21 patients treated between 1993 and 2003 were reviewed. Management utilized clinical staging, histology and imaging. Major salivary gland tumor extent was routinely assessed by preoperative ultrasonography. Diagnosis, surgery type, margin type (negative/positive, postoperative radiotherapy and recurrence (presence/absence were evaluated. RESULTS: There were eleven major salivary gland tumors (52.3%, seven submandibular and four parotid. Ten patients (47.7% had minor salivary gland ACC (all in palate, while the submandibular was the most frequently affected major one. Diagnoses were mostly via fine-needle aspiration (FNA and incision biopsy. Frozen sections were used for six patients. There was good ultrasound/FNA correlation. Sixteen (76% had postoperative radiotherapy. One (4.7% died from ACC and five now have recurrent disease: three (14.2% locoregional and two (9.5% distant metastases. CONCLUSION: Adenoid cystic carcinoma has locally aggressive behavior. In 21 cases, of ACC, the facial nerve was preserved in all except in the few with gross tumor involvement. Treatment was defined from physical examination, imaging, staging and histology.

  9. Immunotherapy for adenoid cystic carcinoma of salivary glands: cancer/testis antigens and 5-aza-2'-deoxycytidine.

    Science.gov (United States)

    Liang, Suxia; Fan, Mingwen

    2009-11-01

    Adenoid cystic carcinoma of salivary glands is the epithelial tumor. There are amount of malignant occurrences of adenoid cystic carcinoma of salivary glands in the head and neck area. Cancer/testis antigens can be found in various malignant tumors, normal adult testis and occasionally placenta, but not in the other normal adult tissues. This characteristic makes Cancer/testis antigens as potential markers to be applied in immunotherapeutic strategies against cancer. It has been shown that in different tumors, the expression of certain Cancer/testis antigens is activated treated with 5-aza-CdR via the demethylation of their promoter CpG islands. It is logical that multiple Cancer/testis antigens may correlate with the clinicopathologic factors of adenoid cystic carcinoma of salivary glands and be the potential markers of prognosis treated with 5-aza-CdR. So the hypothesis will provide the new direction that we can use Cancer/testis antigens as candidate antigens for adenoid cystic carcinoma of salivary glands immunotherapy due to the high expression rate activated with 5-aza-CdR.

  10. [Expression of erythroblastic leukemia viral oncogene homolog 3 (ErbB-3) binding protein-1, matrix metalloproteinases, eplthelial cadherin in adenoid cystic carcinoma and correlation analysis].

    Science.gov (United States)

    Sun, Jian; Yu, You-cheng; Luo, Yi-xi; Tian, Zhen

    2012-12-01

    To investigate the expression of ErbB-3 binding protein-1 (EBP-1), matrix metalloproteinase 9 (MMP-9) and E-cadherin (E-cad) in adenoid cystic carcinoma and their correlation. Immunohistochemistry(PV6000 method) was used to detect EBP-1, MMP-9 and E-cad expression in 66 cases of adenoid cystic carcinoma tissues and matched para-cancerous normal tissues. In this study all cases were successfully followed up. The positive expression rate of EBP-1 in adenoid cystic carcinoma tissues was 85%. EBP-1 expression was significantly correlated to pathological pattern and clinical stage (P correlation between EBP-1 and E-cad expression, and positive correlation between EBP-1 and MMP-9. EBP-1 and its correlation with MMP-9 and E-cad may be used as useful indicators for clinical assessment of tumor biological behavior and prognosis in patients with adenoid cystic carcinoma.

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

    OpenAIRE

    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

    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...

  12. Primary cutaneous adenoid cystic carcinoma of the eyelid and literature review

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    Deniz Turgut Coban

    2015-10-01

    Full Text Available ABSTRACTPrimary cutaneous adenoid cystic carcinoma (PCACC is a rare malignant epithelial tumor most commonly observed in the scalp and skin of the chest and originating from the palpebral portion of the lacrimal gland in the orbit. Here we describe the diagnosis and treatment of a rare case of PCACC in an eye of a 52-year-old male. The patient presented with a mass lesion of the right lower eyelid. During incisional biopsy, lack of encapsulation and a secretion pattern different to that of chalazion was observed, which differentiated the lesion from chalazion. Pathological analysis revealed the diagnosis of PCACC. This case highlights the importance of careful inspection for macroscopic differentiation of PCACC from chalazion after initial surgery and pathological evaluation of all surgically removed mass lesions for accurate diagnosis and treatment.

  13. Adenoid cystic carcinoma in the maxillary gingiva: a case report and immunohistochemical study

    International Nuclear Information System (INIS)

    Zhao, Chi; Liu, Jin-Zhong; Wang, Shu-Bin; Wang, Shi-Chang

    2013-01-01

    Gingival adenoid cystic carcinoma (ACC) is a rare malignancy. We describe the diagnosis and treatment of a 43 year-old woman who presented with a persistent oral ulcer for approximately 1 year, and subsequent pain in the left posterior maxillary region. Clinical examination revealed an ulcer in the left upper molar gingiva, with swelling in the region from the second premolar to the third molar. X-ray images demonstrated the involvement of the maxillary alveolar bone. The histopathological and immunohistochemical features were diagnostic of ACC. ACC is often presented as a gingival lesion; thus, it may easily be neglected by patients. The identification of this tumor using specific pathological analyses prevents misdiagnosis and enables clinicians to determine the appropriate treatment. In this case, no recurrence or distant metastasis was observed after 2 years of follow-up

  14. Adenoid cystic carcinoma of the tracheobronchial system. The role of postoperative radiotherapy

    International Nuclear Information System (INIS)

    Ogino, Takashi; Shimizu, Wakako; Ono, Ryousuke; Ikeda, Hiroshi.

    1995-01-01

    To clarify the role of postoperative radiotherapy for adenoid cystic carcinoma of the tracheobronchial system (ACC), we analyzed patients treated at the National Cancer Center Hospital, Tokyo. Seven patients with ACC were treated with resective surgery and postoperative radiotherapy from 1962-1990. None of the primary lesions was completely surgically resected. Postoperative irradiation was delivered by standard fractionation at a dose range of 49.2-72 Gy. Four of seven patients lived more than 5 years, up to 21 years, without local recurrence. In contrast, three other patients who showed recurrence within 2 years died of disease before 5 years. Three of four patients who received postoperative irradiation of 60 Gy or more attained local control. One of three patients who received less than 60 Gy failed locally. A high dose of postoperative radiotherapy for patients with a positive surgical margin of ACC seems to improve local control and result in long-term survival. (author)

  15. Radiologic and pathological correlation of adenoid cystic carcinoma of the breast; A case report

    International Nuclear Information System (INIS)

    Kim, Jung Gyu; Kim, Shin Young; Jung, Hae Yoen; Kim, Sung Yong; Lee, Deuk Young; Park, Sang Hyun; Park, Sang Hyun

    2015-01-01

    Adenoid cystic carcinoma (ACC) is a subtype of adenocarcinoma that is usually seen in the salivary glands. It has also been reported in other organs including the breast, skin, tracheobronchial tree, cervix, larynx, and Bartholin gland. ACC in the breast is rare, accounting for less than 0.1% of all breast cancers. Furthermore, the imaging characteristics of ACC of the breast have not been well described in the literature, especially regarding the findings with magnetic resonance imaging (MRI). Here, we report radiologic findings of a rare case of ACC in the breast by mammography, sonography, computed tomography (CT), positron emission tomography/CT, and MRI with pathologic correlation and a review of the literature

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    Vijendra S Shenoy

    2015-01-01

    Full Text Available 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.

  18. Adenoid Cystic Carcinoma of the Buccal Mucosa with Rare Delayed Frontal Bone Metastasis: A Case Report

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    Zohreh Dalirsani

    2016-10-01

    Full Text Available Adenoid cystic carcinoma (AdCC is a malignant neoplasm, which accounts for 5-10% of all salivary gland tumors (1. About 50% of these tumors originate from intraoral minor salivary glands usually in the hard palate (1. Three clinically obvious characteristics of AdCC include slow growth rate, perineural invasion and high incidence of distant metastasis (1. The most commonly-affected sites of distant metastasis are bone, liver and brain, followed by lungs (2. Lymph node metastases are rare;  The most common sites  involved by hematogenous spread are lungs (2.  This is a report about a patient with a rare form of AdCC on buccal mucosa with an unusual metastasis to the frontal region after a two-year follow up.

  19. Radiologic and pathological correlation of adenoid cystic carcinoma of the breast; A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Gyu; Kim, Shin Young; Jung, Hae Yoen; Kim, Sung Yong; Lee, Deuk Young; Park, Sang Hyun [Soonchunhyang University College of Medicine, Cheonan Hospital, Cheonan (Korea, Republic of); Park, Sang Hyun [Dept. of Radiology, Plus Internal Medicine Clinic, Suncheon (Korea, Republic of)

    2015-06-15

    Adenoid cystic carcinoma (ACC) is a subtype of adenocarcinoma that is usually seen in the salivary glands. It has also been reported in other organs including the breast, skin, tracheobronchial tree, cervix, larynx, and Bartholin gland. ACC in the breast is rare, accounting for less than 0.1% of all breast cancers. Furthermore, the imaging characteristics of ACC of the breast have not been well described in the literature, especially regarding the findings with magnetic resonance imaging (MRI). Here, we report radiologic findings of a rare case of ACC in the breast by mammography, sonography, computed tomography (CT), positron emission tomography/CT, and MRI with pathologic correlation and a review of the literature.

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

    Science.gov (United States)

    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

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

    International Nuclear Information System (INIS)

    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.

    2008-01-01

    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

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

    International Nuclear Information System (INIS)

    Sun, Jian; Luo, Yixi; Tian, Zhen; Gu, Liang; Xia, Shu Chi; Yu, Youcheng

    2012-01-01

    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. 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. 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. Of note, EBP1 inhibits

  3. Expressions of ABCG2, CD133, and Podoplanin in Salivary Adenoid Cystic Carcinoma

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    Wuwei Li

    2014-01-01

    Full Text Available Adenoid cystic carcinoma (ACC is one of the most common salivary gland malignant tumors with a high risk of recurrence and metastasis. Current studies on cancer stem cells (CSCs have verified that CSCs are the driving force behind tumor initiation and progression, suggesting that new cancer therapies may be established by effectively targeting and killing the CSCs. The primary goal of this study is to investigate the expression patterns of ABCG2, CD133, and podoplanin in ACC of minor salivary glands by immunohistochemistry analysis. We found that ABCG2 was weakly expressed in normal looking salivary gland tissues. A significant upregulation of ABCG2 expression in ACC was observed with a similar expression pattern of Ki-67. CD133 was detected in apical membrane of epithelial cells and podoplanin was expressed positively in myoepithelial cells of both normal looking tissue and ACC. However, no significant difference was found of the expression pattern of CD133 and podoplanin between normal looking tissues and ACC. Our observations suggest that CSCs may exist in quiescent cells with ABCG2 positive staining, which are surrounded by cells with positive expression of ABCG2 and Ki-67 in ACC, and costaining with ABCG2 and Ki-67 may help predict the location of CSCs.

  4. Adenoid cystic carcinoma of the larynx: a report of six cases with review of the literature.

    Science.gov (United States)

    Liu, Wei; Chen, Xiaohong

    2015-05-01

    Adenoid cystic carcinoma (ACC) in the larynx is an extremely rare entity. Although the 5-year disease-specific survival rates for laryngeal ACC are high, distant metastasis might occur up to more than 5 years post treatment. Therefore patients with ACC require long-term follow-up. To summarize the characteristics of laryngeal ACC by analyzing six cases in a single center. This was a retrospective analysis of six patients with laryngeal ACC who were treated in Beijing Tongren Hospital between 1998 and 2013. The mean age at diagnosis was 44 years, ranging from 15 to 61 years. Dyspnea was the most common complaint. All patients underwent combined-modality treatment with surgical resection and external beam radiation. The range of follow-up time varied from 1 to 7 years (median 5 years). Follow-up inspections indicated that none of them had local or regional recurrence. Distant metastasis occurred in 33.7% (2/6) of the patients, with one lung metastasis 5 years after operation and one liver metastasis 4 years after operation.

  5. Transcriptomes define distinct subgroups of salivary gland adenoid cystic carcinoma with different driver mutations and outcomes

    Science.gov (United States)

    Frerich, Candace A.; Brayer, Kathryn J.; Painter, Brandon M.; Kang, Huining; Mitani, Yoshitsugu; El-Naggar, Adel K.; Ness, Scott A.

    2018-01-01

    The relative rarity of salivary gland adenoid cystic carcinoma (ACC) and its slow growing yet aggressive nature has complicated the development of molecular markers for patient stratification. To analyze molecular differences linked to the protracted disease course of ACC and metastases that form 5 or more years after diagnosis, detailed RNA-sequencing (RNA-seq) analysis was performed on 68 ACC tumor samples, starting with archived, formalin-fixed paraffin-embedded (FFPE) samples up to 25 years old, so that clinical outcomes were available. A statistical peak-finding approach was used to classify the tumors that expressed MYB or MYBL1, which had overlapping gene expression signatures, from a group that expressed neither oncogene and displayed a unique phenotype. Expression of MYB or MYBL1 was closely correlated to the expression of the SOX4 and EN1 genes, suggesting that they are direct targets of Myb proteins in ACC tumors. Unsupervised hierarchical clustering identified a subgroup of approximately 20% of patients with exceptionally poor overall survival (median less than 30 months) and a unique gene expression signature resembling embryonic stem cells. The results provide a strategy for stratifying ACC patients and identifying the high-risk, poor-outcome group that are candidates for personalized therapies. PMID:29484115

  6. Intracranial extension of adenoid cystic carcinoma of the palate: a case report

    International Nuclear Information System (INIS)

    Oh, Yoon Kyeong; Kee, Keun Hong

    1999-01-01

    Intracranial involvement by adenoid cystic carcinoma (ACC) is very rare and there is no report of intracranial extension from the palate ACC in Korea. Intracranial involvement can occur in one of three ways: direct extension, perineural spread, and hematogenous spread. A case report of a 35-year-old woman with intracranial ACC is presented. Initially she had ACC of the right palate and was treated by surgery and postoperative radiation therapy. Three years and 10 months later, the paresthesia in the distribution of ophthalmic and maxillary branch of right trigeminal nerve developed without evidence of recurrence in CT scan. Ptosis and total ophthalmoplegia developed sequentially and the second operation was performed. It was suggested that the tumor was spread perineurally along the trigeminal nerve into the Gasserian ganglion and then cavernous sinus and orbit. Seven years and 6 months after the first operation, direct intracranial extension into the right temporal lobe developed via sphenoid bone, sphenoid sinus and temporal bone and the third operation was done. And then Jung metastasis was diagnosed. She is alive for 9 years 5 months after first operation

  7. Suprabasin is hypomethylated and associated with metastasis in salivary adenoid cystic carcinoma.

    Directory of Open Access Journals (Sweden)

    Chunbo Shao

    Full Text Available Salivary gland adenoid cystic carcinoma (ACC is a rare cancer, accounting for only 1% of all head and neck malignancies. ACC is well known for perineural invasion and distant metastasis, but its underlying molecular mechanisms of carcinogenesis are still unclear.Here, we show that a novel oncogenic candidate, suprabasin (SBSN, plays important roles in maintaining the anchorage-independent and anchorage-dependent cell proliferation in ACC by using SBSN shRNA stably transfected ACC cell line clones. SBSN is also important in maintaining the invasive/metastatic capability in ACC by Matrigel invasion assay. More interestingly, SBSN transcription is significantly upregulated by DNA demethylation induced by 5-aza-2'-deoxycytidine plus trichostatin A treatment and the DNA methylation levels of the SBSN CpG island located in the second intron were validated to be significantly hypomethylated in primary ACC samples versus normal salivary gland tissues.Taken together, these results support SBSN as novel oncogene candidate in ACC, and the methylation changes could be a promising biomarker for ACC.

  8. Suprabasin is hypomethylated and associated with metastasis in salivary adenoid cystic carcinoma.

    Science.gov (United States)

    Shao, Chunbo; Tan, Marietta; Bishop, Justin A; Liu, Jia; Bai, Weiliang; Gaykalova, Daria A; Ogawa, Takenori; Vikani, Ami R; Agrawal, Yuri; Li, Ryan J; Kim, Myoung Sook; Westra, William H; Sidransky, David; Califano, Joseph A; Ha, Patrick K

    2012-01-01

    Salivary gland adenoid cystic carcinoma (ACC) is a rare cancer, accounting for only 1% of all head and neck malignancies. ACC is well known for perineural invasion and distant metastasis, but its underlying molecular mechanisms of carcinogenesis are still unclear. Here, we show that a novel oncogenic candidate, suprabasin (SBSN), plays important roles in maintaining the anchorage-independent and anchorage-dependent cell proliferation in ACC by using SBSN shRNA stably transfected ACC cell line clones. SBSN is also important in maintaining the invasive/metastatic capability in ACC by Matrigel invasion assay. More interestingly, SBSN transcription is significantly upregulated by DNA demethylation induced by 5-aza-2'-deoxycytidine plus trichostatin A treatment and the DNA methylation levels of the SBSN CpG island located in the second intron were validated to be significantly hypomethylated in primary ACC samples versus normal salivary gland tissues. Taken together, these results support SBSN as novel oncogene candidate in ACC, and the methylation changes could be a promising biomarker for ACC.

  9. A phase 2 study of vorinostat in locally advanced, recurrent, or metastatic adenoid cystic carcinoma.

    Science.gov (United States)

    Goncalves, Priscila H; Heilbrun, Lance K; Barrett, Michael T; Kummar, Shivaani; Hansen, Aaron R; Siu, Lillian L; Piekarz, Richard L; Sukari, Ammar W; Chao, Joseph; Pilat, Mary Jo; Smith, Daryn W; Casetta, Lindsay; Boerner, Scott A; Chen, Alice; Lenkiewicz, Elizabeth; Malasi, Smriti; LoRusso, Patricia M

    2017-05-16

    Vorinostat is a histone deacetylase inhibitor (HDACi). Based on a confirmed partial response (PR) in an adenoid cystic carcinoma (ACC) patient treated with vorinostat in a prior phase 1 trial, we initiated this phase 2 trial. Vorinostat was administered orally 400 mg daily, 28 day cycles. The primary objective was to evaluate response rate (RR). Exploratory studies included whole exome sequencing (WES) of selected patients. Thirty patients were enrolled. Median age of patients was 53 years (range 21-73). Median number of cycles was 5 (range 1-66). Lymphopenia (n = 5), hypertension (n = 3), oral pain (n = 2), thromboembolic events (n = 2) and fatigue (n = 2) were the only grade 3 adverse events (AEs) that occurred in more than 1 patient. Eleven patients were dose reduced secondary to drug-related AEs. Two patients had a partial response (PR), with response durations of 53 and 7.2 months. One patient had a minor response with a decrease in ascites (for 19 cycles). Stable disease was the best response in 27 patients. Targeted and WES of 8 patients in this trial identified mutations in chromatin remodeling genes highlighting the role of the epigenome in ACC. Vorinostat demonstrated efficacy in patients with ACC supporting the inclusion of HDACi in future studies to treat ACC.

  10. Adenoid cystic carcinomas of the salivary gland, lacrimal gland, and breast are morphologically and genetically similar but have distinct microRNA expression profiles

    DEFF Research Database (Denmark)

    Andreasen, Simon; Tan, Qihua; Agander, Tina Klitmøller

    2018-01-01

    Adenoid cystic carcinoma is among the most frequent malignancies in the salivary and lacrimal glands and has a grave prognosis characterized by frequent local recurrences, distant metastases, and tumor-related mortality. Conversely, adenoid cystic carcinoma of the breast is a rare type of triple......-negative (estrogen and progesterone receptor, HER2) and basal-like carcinoma, which in contrast to other triple-negative and basal-like breast carcinomas has a very favorable prognosis. Irrespective of site, adenoid cystic carcinoma is characterized by gene fusions involving MYB, MYBL1, and NFIB, and the reason...... for the different clinical outcomes is unknown. In order to identify the molecular mechanisms underlying the discrepancy in clinical outcome, we characterized the phenotypic profiles, pattern of gene rearrangements, and global microRNA expression profiles of 64 salivary gland, 9 lacrimal gland, and 11 breast...

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

    Science.gov (United States)

    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

  12. Incidence of cervical lymph node metastasis and its association with outcomes in patients with adenoid cystic carcinoma

    DEFF Research Database (Denmark)

    Amit, Moran; Binenbaum, Yoav; Sharma, Kanika

    2015-01-01

    BACKGROUND: The patterns of regional metastasis in adenoid cystic carcinoma (ACC) of the head and neck and its association with outcome is not established. METHODS: We conducted a retrospective multicentered multivariate analysis of 270 patients who underwent neck dissection. RESULTS: The inciden...... treatment in patients with ACC of the oral cavity. © 2014 Wiley Periodicals, Inc. Head Neck, 2014....... rate of neck metastases was 29%. The rate observed in the oral cavity is 37%, and in the major salivary glands is 19% (p = .001). The rate of occult nodal metastases was 17%. Overall 5-year survival rates were 44% in patients undergoing therapeutic neck dissections, and 65% and 73% among those...

  13. Analysis of failure in patients with adenoid cystic carcinoma of the head and neck an international collaborative study

    DEFF Research Database (Denmark)

    Amit, Moran; Binenbaum, Yoav; Sharma, Kanika

    2014-01-01

    BACKGROUND Adenoid cystic carcinoma (ACC) is a locally aggressive tumor with a high prevalence of distant metastases. The current study aimed to identify independent predictors of outcome and to characterize the patterns of failure. METHODS: An international retrospective review of 489 ACC patients...... treated between 1985 and 2011 in 9 cancer centers worldwide. RESULTS: Five-year overall-survival (OS), disease-specific survival(DSS) and disease-free survival (DFS) were 76%, 80% and 68%, respectively. Independent predictors of OS and DSS were: age, site, N classification and presence of distant...

  14. Treatment of locally advanced adenoid cystic carcinoma of the head and neck with neutron radiotherapy

    International Nuclear Information System (INIS)

    Douglas, James G.; Laramore, George E.; Austin-Seymour, Mary; Koh Wuijin; Stelzer, Keith; Griffin, Thomas W.

    2000-01-01

    Purpose: To examine the efficacy of fast neutron radiotherapy for the treatment of locally advanced and/or recurrent adenoid cystic carcinoma of the head and neck and to identify prognostic variables associated with local-regional control and survival. Methods and Materials: One hundred fifty-nine patients with nonmetastatic, previously unirradiated, locally advanced, and/or recurrent adenoid cystic carcinoma (ACC) of the head and neck region were treated with fast neutron radiotherapy during the years 1985-1997. One hundred fifty-one patients had either unresectable disease, or gross residual disease (GRD) after an attempted surgical extirpation. Eight patients had microscopic residual disease and were analyzed separately. Sixty-two percent of patients had tumors arising in minor salivary glands, 29% in major salivary glands, and 9% in other sites such as the lacrimal glands, tracheal-bronchial tree, etc. Fifty-five percent of patients were treated for postsurgical recurrent disease and 13% of patients had lymph node involvement at the time of treatment. The median duration of follow-up was 32 months (range 3-142 months). Actuarial curves for survival, cause-specific survival, local-regional control, and the development of distant metastases are presented for times out to 11 years. Results: The 5-year actuarial local-regional tumor control rate for the 151 patients with GRD was 57%; the 5-year actuarial overall survival rate was 72%; and the 5-year actuarial cause-specific survival rate was 77%. Variables associated with decreased local-regional control in the patients with GRD as determined by multivariate analysis included base of skull involvement (p < 0.01) and biopsy only versus an attempted surgical resection prior to treatment (p = 0.03). Patients without these negative factors had an actuarial local-regional control rate of 80% at 5 years. Patients with microscopic residual disease (n = 8) had a 5-year actuarial local-regional control rate of 100%. Base of

  15. CT diagnosis of adenoid cystic carcinoma of the nasal cavity and paranasal sinus

    International Nuclear Information System (INIS)

    Li Genzhu; Shi Mulan

    1998-01-01

    Purpose: To assess CT findings and their clinical value in the diagnosis of adenoid cystic carcinoma (ACC) of the nasal cavity and paranasal sinus. Materials and methods: Pre-treatment CT findings in 17 histologically proven cases of ACC of the nasal and paranasal sinus were reviewed. 3 cases had plain CT, 2 cases both pre- and post-contrast enhanced CT, and 12 cases contrast enhanced CT. There were 18 axial and 16 coronal scans. Results: Tumors originated from and localized in the nasal cavity in 2 cases. In 15 cases, tumors were located in maxillary sinus and invaded adjacent organs or/and structures, including ipsilateral ethmoid sinus, sphenoid sinus and nasal cavity, contralateral maxillary sinus, orbit, palate, infratemporal fossa, pterygopalatine fossa, parapharyngeal space, inferior orbital fissure and foramen oval. In 7 cases, lesions invaded intracranial structures as well as the cavernous sinus. Altogether there were 2 cases of stage I, 3 cases stage III, and 12 cases stage IV. Adjacent bony changes were found in 16 cases, with bony remodeling (4 cases) and bony erosion combined with expansion (12) (71%). The diameter of the mass was larger than 5 cm in 71% of the cases. In 41% of the cases, tumors were irregular in shape, mottled pattern of lucencies within the tumor was shown in 82% of cases. Scattered calcification could be identified in 3 cases. Conclusion: Most of ACC of the nasal cavity and paranasal sinus had mottle pattern of lucencies within the tumor, irregular in shape, adjacent bony remodeling and/or erosive destruction. These findings indicate the histologic and biologic characteristics of the tumor with slow growing and perineural invasion. Apart from axial scan, coronal scan and contrast administration are mandated for the diagnosis and staging ACC

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

    International Nuclear Information System (INIS)

    Khanfir, Kaouthar; Kallel, Adel; Villette, Sylviane; Belkacémi, 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

    2012-01-01

    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.

  17. Prognostic factors affecting the clinical outcome of adenoid cystic carcinoma of the head and neck

    International Nuclear Information System (INIS)

    Ko, Yoon-Ho; Lee, Myung-Ah; Hong, Yeong-Seon

    2007-01-01

    Adenoid cystic carcinoma (ACC) is an uncommon tumor, constituting approximately 10% of all head and neck tumors. Classically, ACC has been described as a tumor with indolent, but persistent and recurrent, growth and late onset of metastases, leading eventually to death. This study assessed the prognostic factors affecting the clinical outcome in patients with ACC in the head and neck region. We performed a retrospective study of 42 patients who underwent primary tumor resection or radiotherapy with curative intent and evaluated the clinical parameters, treatment and clinical outcomes. Forty-two patients (18 males and 24 females with a median age of 65 years) received curative treatment. The overall 3- and 5-year survival was 87.4% and 55.3%, respectively, whereas the 3- and 5-year disease-free survival was 64.3% and 36.1%, respectively. Of the 32 patients in whom recurrence could be evaluated, 18 (56.3%) developed distant metastases, with the lung (72.2%) being the most common site. Perivascular invasion influenced metastasis to the lung with borderline significance (P=0.053). The recurrence rate was higher (P=0.045) in patients with high-grade tumor. The status of lymph node metastasis was significantly associated with overall survival (P=0.030). High tumor grade and lymph node involvement were predictive of recurrence and overall survival, respectively. Despite aggressive treatment, it seems to be impossible to prevent the development of distant metastasis. Therefore, more research is needed to identify molecular biomarkers that predict the clinical outcome and to develop effective treatment for patients with ACC. (author)

  18. Biochemical changes of salivary gland adenoid cystic carcinoma cells induced by SGI-1776

    International Nuclear Information System (INIS)

    Hou, Xiuxiu; Yu, Yunfang; Feng, Jianguo; Wang, Jiafeng; Zheng, Chuanming; Ling, Zhiqiang; Ge, Minghua; Zhu, Xin

    2017-01-01

    Provirus integration site for Moloney murine leukemia virus 1 (Pim-1) has proved to be an oncogene and it is known that to depress Pim-1 activity may be a novel oncological treatment strategy. SGI-1776, a small molecule, is the first clinically tested inhibitor of the Pim kinase family. Here, we aimed to explore the effect of SGI-1776 on salivary adenoid cystic carcinoma (SACC). Expression of Pim-1 was confirmed in SACC and control tissues by qRT-PCR. After SGI-1776 treatment, the Pim-1 expressions and Pim-1 kinase activity in both SACC-83 and SACC-LM cell lines were measured. Cell proliferation, cell invasion, cell cycle, apoptosis and mitochondrial membrane potential were analyzed. Also, the expression of FOXO3a, p-FOXO3a, RUNX3, Bcl-2, BAD, p-BAD, Bim and p-Bim were detected by Western blot. The results showed that Pim-1 was significantly overexpressed in SACC tissues. SGI-1776 down-regulated the Pim-1 expression, inhibited Pim-1 kinase activity, reduced cell proliferation, decreased invasive ability, increased caspase-3 activity and induced apoptosis, cell cycle arrest and mitochondrial depolarization. Reduced expression was also seen in p-FOXO3a, RUNX3, Bcl-2, p-BAD and p-Bim, whereas no significant changes were observed from FOXO3a, BAD and Bim. These results confirm the pivotal role of Pim-1 in SACC and suggest that targeting Pim-1 kinase signal pathway by SGI-1776 might be a promising therapeutic modality for SACC.

  19. Biochemical changes of salivary gland adenoid cystic carcinoma cells induced by SGI-1776

    Energy Technology Data Exchange (ETDEWEB)

    Hou, Xiuxiu, E-mail: show-1989@163.com [Zhejiang Cancer Research Institute, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China); The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000 (China); Yu, Yunfang, E-mail: yyf_8247425@163.com [Zhejiang Cancer Research Institute, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China); Feng, Jianguo, E-mail: fengjg@zjcc.org.cn [Zhejiang Cancer Research Institute, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China); Wang, Jiafeng, E-mail: 15990081256@163.com [Department of Head and Neck Surgery, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China); Zheng, Chuanming, E-mail: mingdoc@163.com [Department of Head and Neck Surgery, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China); Ling, Zhiqiang, E-mail: lingzq@zjcc.org.cn [Zhejiang Cancer Research Institute, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China); Ge, Minghua, E-mail: gemh@zjcc.org.cn [The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000 (China); Department of Head and Neck Surgery, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China); Zhu, Xin, E-mail: zhuxin@zjcc.org.cn [Zhejiang Cancer Research Institute, Zhejiang Province Cancer Hospital, Hangzhou 310022 (China)

    2017-03-15

    Provirus integration site for Moloney murine leukemia virus 1 (Pim-1) has proved to be an oncogene and it is known that to depress Pim-1 activity may be a novel oncological treatment strategy. SGI-1776, a small molecule, is the first clinically tested inhibitor of the Pim kinase family. Here, we aimed to explore the effect of SGI-1776 on salivary adenoid cystic carcinoma (SACC). Expression of Pim-1 was confirmed in SACC and control tissues by qRT-PCR. After SGI-1776 treatment, the Pim-1 expressions and Pim-1 kinase activity in both SACC-83 and SACC-LM cell lines were measured. Cell proliferation, cell invasion, cell cycle, apoptosis and mitochondrial membrane potential were analyzed. Also, the expression of FOXO3a, p-FOXO3a, RUNX3, Bcl-2, BAD, p-BAD, Bim and p-Bim were detected by Western blot. The results showed that Pim-1 was significantly overexpressed in SACC tissues. SGI-1776 down-regulated the Pim-1 expression, inhibited Pim-1 kinase activity, reduced cell proliferation, decreased invasive ability, increased caspase-3 activity and induced apoptosis, cell cycle arrest and mitochondrial depolarization. Reduced expression was also seen in p-FOXO3a, RUNX3, Bcl-2, p-BAD and p-Bim, whereas no significant changes were observed from FOXO3a, BAD and Bim. These results confirm the pivotal role of Pim-1 in SACC and suggest that targeting Pim-1 kinase signal pathway by SGI-1776 might be a promising therapeutic modality for SACC.

  20. Adenoid cystic carcinoma of the head and neck: a single-center analysis of 105 consecutive cases over a 30-year period

    NARCIS (Netherlands)

    van Weert, S.; Bloemena, E.; van der Waal, I.; de Bree, R.; Rietveld, D.H.F.; Kuik, D.J.; Leemans, C.R.

    2013-01-01

    Background Adenoid cystic carcinoma is a rare salivary gland malignancy with a poor disease free survival due to frequent distant metastases and late local recurrences. Previous single-center reports on outcome mostly encompass small series. In this report a relative large series of 105 cases is

  1. Long-term survival of a patient with extensive intracranial infiltration of adenoid cystic carcinoma of the lacrimal gland

    International Nuclear Information System (INIS)

    Pluta, P.; Piekarski, J.; Nejc, D.; Jesionek-Kupnicka, D.

    2008-01-01

    Adenoid cystic carcinoma (ACC) of the lacrimal gland is a rare neoplasm associated with poor prognosis. Because of its inherent tendency toward local infiltration and perineural spread, involving a high risk of local recurrences and intracranial extension as well as the risk of regional lymph node and distant metastases development, aggressive approach with orbital exenteration, irradiation and chemotherapy has been used. However, the natural course of ACC of the lacrimal gland is not well known. We present a case of long-term survival of a 48-year-old male patient with ACC located in the lacrimal gland, who underwent non-radical resection of malignant tumor and received palliative chemotherapy with doxorubicin and cisplatin. This patient lived for almost 14 years after diagnosis. Thirteen out of teahouse years the patient lived without serious complaints, and in good performance status. (authors)

  2. Nedaplatin as a Single-Agent Chemotherapy May Support Palliative Therapy for Patients with Adenoid Cystic Carcinoma: A Case Report

    Directory of Open Access Journals (Sweden)

    Hiroyuki Hirakawa

    2017-08-01

    Full Text Available Adenoid cystic carcinoma (ACC is a rare form of adenocarcinoma, which is a broad term describing any cancer that begins in the glandular tissues. It can be found in the head and neck. We report a patient with recurrent ACC arising from the submandibular gland, treated with 100 mg/m2 nedaplatin every 4 weeks. Although our patient’s lactate dehydrogenase levels, which is produced by ACC, showed a rising trend throughout the treatment, the level decreased for approximately 2 weeks immediately after administration of nedaplatin every 4 weeks. Thus, there is a possibility that the agent may be effective. Complications such as anorexia and nausea were observed, but they were tolerated and manageable. Nedaplatin may be considered as a supportive agent during palliative therapy for patients with ACC. More clinical trials regarding nedaplatin are necessary, as this study may indicate that a medical approach works well for ACC.

  3. An unusual presentation of adenoid cystic carcinoma of the minor salivary glands with cranial nerve palsy: a case study

    Directory of Open Access Journals (Sweden)

    Morris Pierre A

    2007-08-01

    Full Text Available Abstract Background Adenoid Cystic Carcinoma (ACC is a rare tumor entity and comprises about 1% of all malignant tumor of the oral and maxillofacial region. It is slow growing but a highly invasive cancer with a high recurrence rate. Intracranial ACC is even more infrequent and could be primary or secondary occurring either by direct invasion, hematogenous spread, or perineural spread. We report the first case of the 5th and 6th nerve palsy due to cavernous sinus invasion by adenoid cystic carcinoma. Case presentation A 49-year-old African American female presented to the emergency room complaining of severe right-sided headache, photophobia, dizziness and nausea, with diplopia. The patient had a 14 year history migraine headaches, hypertension, and mild intermittent asthma. Physical examination revealed right lateral rectus muscle palsy with esotropia. There was numbness in all three divisions of the right trigeminal nerve. Motor and sensory examination of extremities was normal. An MRI of the brain/brain stem was obtained which showed a large mass in the clivus extending to involve the nasopharynx, pterygoid plate, sphenoid and right cavernous sinuses. Biopsy showed an ACC tumor with a cribriform pattern of the minor salivary glands. The patient underwent total gross surgical resection and radiation therapy. Conclusion This is a case of ACC of the minor salivary glands with intracranial invasion. The patient had long history of headaches which changed in character during the past year, and symptoms of acute 5th and 6th cranial nerve involvement. Our unique case demonstrates direct invasion of cavernous sinus and could explain the 5th and 6th cranial nerve involvement as histopathology revealed no perineural invasion.

  4. An unusual presentation of adenoid cystic carcinoma of the minor salivary glands with cranial nerve palsy: a case study

    International Nuclear Information System (INIS)

    Abdul-Hussein, Amal; Morris, Pierre A; Markova, Tsveti

    2007-01-01

    Adenoid Cystic Carcinoma (ACC) is a rare tumor entity and comprises about 1% of all malignant tumor of the oral and maxillofacial region. It is slow growing but a highly invasive cancer with a high recurrence rate. Intracranial ACC is even more infrequent and could be primary or secondary occurring either by direct invasion, hematogenous spread, or perineural spread. We report the first case of the 5 th and 6 th nerve palsy due to cavernous sinus invasion by adenoid cystic carcinoma. A 49-year-old African American female presented to the emergency room complaining of severe right-sided headache, photophobia, dizziness and nausea, with diplopia. The patient had a 14 year history migraine headaches, hypertension, and mild intermittent asthma. Physical examination revealed right lateral rectus muscle palsy with esotropia. There was numbness in all three divisions of the right trigeminal nerve. Motor and sensory examination of extremities was normal. An MRI of the brain/brain stem was obtained which showed a large mass in the clivus extending to involve the nasopharynx, pterygoid plate, sphenoid and right cavernous sinuses. Biopsy showed an ACC tumor with a cribriform pattern of the minor salivary glands. The patient underwent total gross surgical resection and radiation therapy. This is a case of ACC of the minor salivary glands with intracranial invasion. The patient had long history of headaches which changed in character during the past year, and symptoms of acute 5 th and 6 th cranial nerve involvement. Our unique case demonstrates direct invasion of cavernous sinus and could explain the 5 th and 6 th cranial nerve involvement as histopathology revealed no perineural invasion

  5. Primary mediastinal synovial sarcoma with subsequent development of primary adenoid cystic carcinoma of lung presenting as superior vena cava syndrome.

    Science.gov (United States)

    Madabhavi, Irappa; Patel, Apurva; Anand, Asha; Panchal, Harsha; Parikh, Sonia

    2018-01-01

    Primary mediastinal sarcomas are aggressive tumors with a very rare incidence. This report describes the case of a 35 year old male patient who presented with acute symptoms of dyspnoea, facial puffiness, engorged neck veins and hoarseness of voice. With the clinical picture consistent with the superior vena caval (SVC) syndrome, the patient was investigated with computed tomography of the chest. This revealed a large soft tissue density mass lesion compressing the SVC along with other critical superior mediastinal structures. Histopathological evaluation of the mass revealed features consistent with a soft tissue sarcoma and positive staining was observed for vimentin and S-100. Cytogenetic analysis by fluorescent in-situ hybridization (FISH) demonstrated the t(X: 18) translocation. Thus diagnosis was established as primary mediastinal synovial sarcoma. Patient was treated with three-cycles of neo-adjuvant (ifosfamide 2400mg/m2 on days 1-5 and doxorubicin 37.5 mg/m2 on days 1 & 2) chemotherapy, to which there was a partial response as per the RECIST criteria. Surgical excision of the mediastinal mass was performed, and further post-operative treatment with adjuvant chemo-radiotherapy was provided. Patient was under regular surveillance at our clinic and remains free of symptoms one-year after treatment completion. But after 14 months of treatment completion patient again had symptoms of progressive dyspnea, hoareness of voice and mild facial puffiness over a period of 2 months. On further investigating he was found to have right-sided centrally located mass with cystic and necrotic changes with extension and compression of trachea, SVC, right upper lobe bronchus and its branches. Histopathological examination of the biopsy from the lesion revealed adenoid cystic carcinoma of the lung. Rest of the metastatic work up was within normal. Immunohistochemistry of the specimen revealed c-Kit positivity. In view of the morbid second surgery he was put on Imatinib 400mg

  6. Prognostic value of expression of molecular markers in adenoid cystic cancer of the salivary glands compared with lymph node metastasis: a retrospective study.

    Science.gov (United States)

    Lee, Seok Ki; Kwon, Min Su; Lee, Yoon Se; Choi, Seung-Ho; Kim, Sang Yoon; Cho, Kyoung Ja; Nam, Soon Yuhl

    2012-12-11

    Adenoid cystic cancer arising in the salivary glands has distinctive features such as perineural invasion, distant metastasis, and a variable prognosis. In salivary gland cancer, c-kit, EGFR, and VEGF are representative molecular markers that may predict remnant and recurrent tumors. In this study, the expression of c-kit, EGFR, and VEGF in adenoid cystic cancer was evaluated, and the relationships between the expression of these markers and the clinical findings were investigated. The medical records of 48 patients who were treated for parotid adenoid cystic cancer from January 1990 to January 2006 were reviewed. The tumor location, size, histological subtypes, perineural invasion, the resected margin status, and lymph node metastasis were assessed. Immunohistochemical staining and semiquantitative analysis of c-kit, EGFR and VEGF were performed. The relationship between the expression of each marker and the clinicopathological factors were analyzed. Positive c-kit immunostaining was present in 45 patients (94%), with weak positivity (+1) in 23, moderate positivity (+2) in 19 and strong positivity (+3) in three. Positive EGFR immunostaining was observed in 27 (56%), with weak positivity (+1) in 19 and moderate positivity (+2) in eight with no strong positive staining. Positive VEGF immunostaining was present in 42 patients (88%) with weak positivity (+1) in 12, moderate positivity (+2) in 17, and strong positivity (+3) in 13. Only the expression of VEGF was significantly higher in parotid gland tumors than in any other gland (P = 0.032). Marginal involvement was associated with strong VEGF expression (P = 0.02). No marker was significantly correlated with recurrence or the survival rate. Lymph node status was related to the survival rate. The expression of c-kit, EGRF, and VEGF had no predictive value for recurrence or the prognosis of adenoid cystic cancer. Only the lymph node status was related to the prognosis.

  7. 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

    Science.gov (United States)

    FANG, JIN; BAO, YANG-YANG; ZHOU, SHUI-HONG; LUO, XING-MEI; YAO, HONG-TIAN; HE, JIAN-FENG; WANG, QIN-YING

    2012-01-01

    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. PMID:23226799

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

    Science.gov (United States)

    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.

  9. Relationship between CT findings and histopathologic features regarding the extent of adenoid cystic carcinoma in the head and neck region

    International Nuclear Information System (INIS)

    Sugiura, Kazutaka; Nakayama, Eiji; Kanda, Shigenobu

    2004-01-01

    The purpose of this study was to clarify the correlation between the morphological CT pattern and histopathologic features in adenoid cystic carcinoma (ACC) of the head and neck region. CT images of 15 patients with ACC in the head and neck region were evaluated concerning the morphological tumor-growth pattern. The growth pattern of ACC on the CT was classified into a well-defined massive (M) type and a diffuse invasive (I) type. Positive tumor cells at the surgical margin, a neural invasion, and a vascular invasion were assessed with a hematoxylin-eosin stained preparation of the surgical specimen. The histopathologic subtype was classified into the tubular, the cribriform, and the solid type. The relationship between the CT pattern and the histopathologic features was analyzed. The M type was predominant in the cribriform type, but in contrast, the I type was predominant in the solid type. However, the tubular type was dominant in both the M type and the I type, and thus, there was no definite association between the CT pattern and histopathologic subtype. There was no definite association between the CT pattern and the outcome. There was no definite association between the morphological tumor-growth CT pattern and histopathologic features in ACC of the head and neck region. Both the M type and the I type based on the CT frequently showed infiltrations into the surrounding parenchymal tissue beyond the field that was predicted as the tumor extent based on the CT. (author)

  10. Increased numbers of P63-positive/CD117-positive cells in advanced adenoid cystic carcinoma give a poorer prognosis

    Directory of Open Access Journals (Sweden)

    Zhou Quan

    2012-09-01

    Full Text Available Abstract Objectives This study consisted of two parts. One part was to analyze the survival rates of adenoid cystic carcinoma (ACC in Chinese and explain the difference between our data and the literature. The other was to analyze the relationship between the expression of CD117 and the histological grade and the prognosis. Methods A retrospective study of 80 ACC patients was performed. Clinical data were collected, and p63, CD117 were detected by immunohistochemical staining. Results Eighty patients received follow-ups 3 to 216 months after initial diagnosis. ACC occurred in the lacrimal gland (26.3%, n = 21, nasal cavity and parasinus (33.8%, n = 27 and other sites (40.0%, n = 33. The 5-year and 10-year survival rates were 66.41% and 10.16%, respectively. Over expression of CD117 was detected in p63-negative cells in 94.3% of cases and in p63-positive cells in 45.8%. The expression of CD117 in p63-positive cells was significantly associated with the histological grade (P Conclusions ACC had a good 5-year survival but poor 10-year survival in Chinese, which differed from the occidental data. More p63+/CD117+ cells were associated with a higher histological grade and poorer outcome. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1701457278762097

  11. 125I brachytherapy alone for recurrent or locally advanced adenoid cystic carcinoma of the oral and maxillofacial region

    International Nuclear Information System (INIS)

    Huang, M.W.; Zheng, L.; Liu, S.M.; Shi, Y.; Zhang, J.; Yu, G.Y.; Zhang, J.G.

    2013-01-01

    Background and purpose: This retrospective study was to evaluate the local control and survival of 125 I brachytherapy for recurrent and/or locally advanced adenoid cystic carcinoma (ACC) of the oral and maxillofacial region. Patients and methods: A total of 38 patients with recurrent and/or locally advanced ACC of the oral and maxillofacial region received 125 I brachytherapy alone from 2001-2010. Twenty-nine were recurrent cases following previous surgery and radiation therapy. The other 9 cases involved primary tumors. Overall, 12 tumors were located in the major salivary glands, 12 in the minor salivary glands, and 14 in the paranasal region, the nasal cavity or the skull base. The prescribed dose was 100-160 Gy. Results: Patients were followed for 12-122 months (median 51 months). The 2-, 5-, and 10-year local tumor control rates were 86.3, 59, and 31.5 %, respectively. The 2-, 5-, and 10-year overall survival rates were 92.1, 65 and 34.1 %, respectively. Tumors > 6 cm had significantly lower local control and survival rates. No severe complications were observed during follow-up. Conclusion: 125 I brachytherapy is a feasible and effective modality for the treatment of locally advanced unresectable or recurrent ACC. (orig.)

  12. Effects of small interfering RNA targeting thymidylate synthase on survival of ACC3 cells from salivary adenoid cystic carcinoma

    International Nuclear Information System (INIS)

    Shirasaki, Takashi; Maruya, Shin-ichiro; Mizukami, Hiroki; Kakehata, Seiji; Kurotaki, Hidekachi; Yagihashi, Soroku; Shinkawa, Hideichi

    2008-01-01

    Thymidylate synthase (TS) is an important target for chemotherapeutic treatment of cancer and high expression of TS has been associated with poor prognosis or refractory disease in several cancers including colorectal and head and neck cancer. Although TS is known to regulate cell cycles and transcription factors, its potency as a therapeutic target has not been fully explored in adenoid cystic carcinoma (ACC). An ACC cell line (ACC3) was transfected with siRNA targeting the TS gene and inhibition of cell growth and induction of apoptosis-associated molecules were evaluated in vitro. In addition, the in vivo effect of TS siRNA on tumor progression was assessed using a xenograft model. Our results demonstrated that ACC3 cells showed significantly higher TS expression than non-cancer cell lines and the induction of TS siRNA led to inhibition of cell proliferation. The effect was associated with an increase in p53, p21, and active caspase-3 and S-phase accumulation. We also found up-regulation of spermidine/spermine N1-acetyltransferase (SSAT), a polyamine metabolic enzyme. Furthermore, treatment with TS siRNA delivered by atelocollagen showed a significant cytostatic effect through the induction of apoptosis in a xenograft model. TS may be an important therapeutic target and siRNA targeting TS may be of potential therapeutic value in ACC

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

    International Nuclear Information System (INIS)

    Jensen, Alexandra D; Krauss, Jürgen; Weichert, Wilko; Debus, Jürgen; Münter, Marc W

    2010-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Zhou, X.Q. [Department of Oral and Maxillofacial Surgery, School of Stomatology, Shandong University, Jinan (China); Department of Oral and Maxillofacial Surgery, The First People' s Hospital of Jining, Shandong (China); Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital, Affiliated to Shandong University, Jinan (China); Huang, S.Y. [Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital, Affiliated to Shandong University, Jinan (China); Zhang, D.S. [Department of Oral and Maxillofacial Surgery, School of Stomatology, Shandong University, Jinan (China); Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital, Affiliated to Shandong University, Jinan (China); Zhang, S.Z.; Li, W.G.; Chen, Z.W.; Wu, H.W. [Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital, Affiliated to Shandong University, Jinan (China)

    2014-12-12

    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.

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

    Directory of Open Access Journals (Sweden)

    Weichert Wilko

    2010-11-01

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

  16. Prostate-specific membrane antigen PET imaging and immunohistochemistry in adenoid cystic carcinoma-@]@a preliminary analysis

    Energy Technology Data Exchange (ETDEWEB)

    Klein Nulent, Thomas J.W.; Es, Robert J.J. van [Utrecht Cancer Center, University Medical Center Utrecht, Department of Head and Neck Surgical Oncology, P.O. Box 85500, Utrecht (Netherlands); University Medical Center Utrecht, Department of Oral and Maxillofacial Surgery, Utrecht (Netherlands); Krijger, Gerard C.; Keizer, Bart de [University Medical Center Utrecht, Department of Radiology and Nuclear Medicine, Utrecht (Netherlands); Bree, Remco de [Utrecht Cancer Center, University Medical Center Utrecht, Department of Head and Neck Surgical Oncology, P.O. Box 85500, Utrecht (Netherlands); Willems, Stefan M. [University Medical Center Utrecht, Department of Pathology, Utrecht (Netherlands)

    2017-09-15

    Adenoid cystic carcinoma (AdCC) of the head and neck is an uncommon malignant epithelial tumour of the secretory glands. Many patients develop slowly growing local recurrence and/or distant metastasis, for which treatment options are limited. A retrospective analysis of 9 AdCC patients was conducted to analyse the visualization of AdCC on PSMA PET/CT and to investigate the expression of PSMA on primary, recurrent and metastatic AdCC tumour tissue using immunohistochemistry. Local recurrence occurred in six patients and eight developed distant metastasis. All PET/CTs depicted PSMA-ligand uptake. Four PSMA PET/CTs showed suspected residual disease, eight scans depicted uptake in areas suspected of distant metastasis. Median Maximum Standardized Uptake Value (SUV{sub max}) in local recurrent and distant metastatic AdCC was 2.52 (IQR 2.41-5.95) and 4.01 (IQR 2.66-8.71), respectively. All primary tumours showed PSMA expression on immunohistochemistry (5-90% expression), as well as all available specimens of local recurrence and distant metastases. PSMA PET/CT is able to detect and visualize local recurrent and distant metastatic AdCC. PSMA-specific targeting is supported by PSMA expression on immunohistochemistry. (orig.)

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

    Science.gov (United States)

    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

    2017-06-01

    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 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.

  18. Unlocking the chromatin of adenoid cystic carcinomas using HDAC inhibitors sensitize cancer stem cells to cisplatin and induces tumor senescence

    Directory of Open Access Journals (Sweden)

    Luciana O. Almeida

    2017-05-01

    Full Text Available Adenoid cystic carcinoma (ACC is an uncommon malignancy of the salivary glands that is characterized by local recurrence and distant metastasis due to its resistance to conventional therapy. Platinum-based therapies have been extensively explored as a treatment for ACC, but they show little effectiveness. Studies have shown that a specific group of tumor cells, harboring characteristics of cancer stem cells (CSCs, are involved in chemoresistance of myeloid leukemias, breast, colorectal and pancreatic carcinomas. Therapeutic strategies that target CSCs improve the survival of patients by decreasing the rates of tumor relapse, and epigenetic drugs, such as histone deacetylase inhibitors (HDACi, have shown promising results in targeting CSCs. In this study, we investigated the effect of the HDACi Suberoylanilide hydroxamic acid (Vorinostat, and cisplatin, alone or in combination, on CSCs and non-CSCs from ACC. We used CSCs as a biological marker for tumor resistance to therapy in patient-derived xenograft (PDX samples and ACC primary cells. We found that cisplatin reduced tumor viability, but enriched the population of CSCs. Systemic administration of Vorinostat reduced the number of detectable CSCs in vivo and in vitro, and a low dose of Vorinostat decreased tumor cell viability. However, the combination of Vorinostat and cisplatin was extremely effective in depleting CSCs and reducing tumor viability in all ACC primary cells by activating cellular senescence. These observations suggest that HDACi and intercalating agents act more efficiently in combination to destroy tumor cells and their stem cells.

  19. Aggressive Adenoid Cystic Carcinoma With Asymptomatic Spinal Cord Compression Revealed By A “Curtain Sign”

    Directory of Open Access Journals (Sweden)

    Martin Housset

    2008-08-01

    Full Text Available The author presents a case with an unusually aggressive evolution of an adenoid cystic carcinoma of the head and neck. The patient presented with sciatica one year after initial diagnosis. She was otherwise asymptomatic. Complete work-up for bone involvement, included bone scan and MRI. The patient had asymptomatic thoracic (T5 vertebral metastasis revealed by a typical curtain sign on MRI. She benefited from radiotherapy and did not develop respiratory distress, paraplegia or pain but died of other metastases.

  20. MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene.

    Science.gov (United States)

    Kim, Jisun; Geyer, Felipe C; Martelotto, Luciano G; Ng, Charlotte Ky; Lim, Raymond S; Selenica, Pier; Li, Anqi; Pareja, Fresia; Fusco, Nicola; Edelweiss, Marcia; Kumar, Rahul; Gularte-Merida, Rodrigo; Forbes, Andre N; Khurana, Ekta; Mariani, Odette; Badve, Sunil; Vincent-Salomon, Anne; Norton, Larry; Reis-Filho, Jorge S; Weigelt, Britta

    2018-02-01

    Breast adenoid cystic carcinoma (AdCC), a rare type of triple-negative breast cancer, has been shown to be driven by MYB pathway activation, most often underpinned by the MYB-NFIB fusion gene. Alternative genetic mechanisms, such as MYBL1 rearrangements, have been reported in MYB-NFIB-negative salivary gland AdCCs. Here we report on the molecular characterization by massively parallel sequencing of four breast AdCCs lacking the MYB-NFIB fusion gene. In two cases, we identified MYBL1 rearrangements (MYBL1-ACTN1 and MYBL1-NFIB), which were associated with MYBL1 overexpression. A third AdCC harboured a high-level MYB amplification, which resulted in MYB overexpression at the mRNA and protein levels. RNA-sequencing and whole-genome sequencing revealed no definite alternative driver in the fourth AdCC studied, despite high levels of MYB expression and the activation of pathways similar to those activated in MYB-NFIB-positive AdCCs. In this case, a deletion encompassing the last intron and part of exon 15 of MYB, including the binding site of ERG-1, a transcription factor that may downregulate MYB, and the exon 15 splice site, was detected. In conclusion, we demonstrate that MYBL1 rearrangements and MYB amplification probably constitute alternative genetic drivers of breast AdCCs, functioning through MYBL1 or MYB overexpression. These observations emphasize that breast AdCCs probably constitute a convergent phenotype, whereby activation of MYB and MYBL1 and their downstream targets can be driven by the MYB-NFIB fusion gene, MYBL1 rearrangements, MYB amplification, or other yet to be identified mechanisms. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  1. Treatment results and prognostic analysis of 54 patients with adenoid cystic carcinoma originated from the major salivary glands

    International Nuclear Information System (INIS)

    Shen Chunying; Hu Chaosu; He Shaoqin

    2010-01-01

    Objective: Adenoid cystic carcinoma (ACC), a rare malignancy in head and neck region, is predominately found in the salivary glands. Our study is to retrospectively analyze the treatment outcomes and prognostic factors of ACC originated from the major salivary glands. Methods: A total of 54 patients diagnosed as ACC were treated in our institution, including 24 cases originated from the parotid gland and 30 from the submandibular or sublingual gland. According to the records, 26 patients received surgery alone and 28 were treated with surgery followed by radiotherapy with a median dose of 58 Gy (range, 50 -65 Gy). Results: The Follow-up rate was 94%, and 15 patients from postoperative radiotherapy group and 20 from surgery alone group were followed up more then 5 years. The 5-year overall survival rate, local-regional control rate, distant metastasis rate, and disease-free survival rate were 97%, 71%, 13% and 69%, respectively. Lung metastasis, occurred in 7 patients, was the most common distant failure. Fifteen recurrences were observed, including 13 in surgery alone group and 2 in postoperative radiotherapy group. The 5-year local-regional control and disease-free survival rates were 90% and 85% for patients treated with postoperative radiotherapy, 54% and 55% for those treated with surgery alone. Univariate and multivariate analyses showed that postoperative radiotherapy was the only prognostic factor of local-regional control and survival rates. Other parameters such as nerve involvement did not significantly influence the treatment results. Conclusions: Postoperative radiotherapy can improve the prognosis of ACC originate from the major salivary glands compared with surgery alone. Distant metastasis is an obstacle in curing the disease, which indicates the value of systemic treatment. (authors)

  2. Therapeutic strategies for adenoid cystic carcinoma of the nasal and paranasal sinus from the long-term treatment results

    International Nuclear Information System (INIS)

    Terada, Nobuhisa; Numata, Tsutomu; Mutoh, Hiroyuki; Ueki, Yuji; Gorai, Shigeki; Konno, Akiyoshi

    2001-01-01

    This article presents long-term treatment results by analyzing 24 cases with adenoid cystic carcinoma (ACC) of the nasal and paranasal sinus treated from 1975 to 1995 at Akita University Hospital and Chiba University Hospital. The basic strategies for treatment for ACC of the nasal and paranasal sinuses are en bloc tumor resection, followed by primary reconstruction of the maxilla. Preoperative and postoperative radiation were combined. Cumulative 5-year and 10-year survival rates were 70.6% and 47.1% for maxillary sinus tumors, respectively. Cumulative 5-year and 10-year survival rates for nasal tumors were 100% and 75.0%, and those for sphenoid sinus tumors were 50.0% and 0%, respectively. The patient with ethomoid sinus who needed skull base surgery is alive at 8.1 years after therapy. Treatment results closely correlated with tumor extension. Cumulative 5-year survival rates for T2, T3 and, T4 patients with maxillary sinus tumors were 85.7%, 71.4%, and 33.3%, respectively. And cumulative 10-year survival rates for T2, T3, and T4 were 71.4%, 42.9%, and 0%, respectively. The histopathological effects of preoperative radiation were Shimosato II a in 6 out of 10 patients, II b in 2, and III in 2, respectively. Only fast neutron therapy reached Shimosato III. Two of the patients with Shimosato II a died of distant metastasis. The above data suggests that, although radiation therapy alone cannot cure tumors, preoperative full-dose radiation may prevent the development of distant metastasis if it can achieve histopathological effects of a higher classification than Shimosato II b. Because chemotherapy and radiation is not very effective on ACC, the role of skull base surgeries for nasal-paranasal sinus malignancies that invade the skull base is valuable, particularly in cases having a relatively small mass in the ethmoid sinus. (author)

  3. Immunohistochemical pattern of pleomorphic adenoma, polymorphous low grade adenocarcinoma and adenoid cystic carcinoma in minor salivary glands.

    Directory of Open Access Journals (Sweden)

    Nadia Zaib

    2014-02-01

    Full Text Available To study the immunohistochemical pattern of CD 117, glial fibrillary acidic protein (GFAP, smooth muscle actin (SMA and CD 43 in pleomorphic adenoma (PA, adenoid cystic carcinoma (AdCC and polymorphous low grade adenocarcinoma (PLGA of minor salivary glands.Twenty cases of PA, 20 cases of AdCC and 10 cases of PLGA were retrieved from record files along with their paraffin blocks at Armed Forces Institute of Pathology, Pakistan. New histological diagnosis was made on freshly prepared H&E sections followed by application and analysis of immunostains.The mean age of the patients was 44 ± 15 (mean SD (range; 17-86 years. There were 26 male and 24 female patients with a male to female ratio of 1.08:1. Fourteen cases of PA, 14 cases of AdCC and 6 cases of PLGA were positive for CD117. In case of GFAP, only 9 cases of AdCC and 3 cases of PLGA were positive; however, 16 cases of PA were also positive. Twelve cases of AdCC and 7 cases of PA were positive for SMA and half of the PLGA cases were also reactive. Nonetheless, the least expression was seen in case of CD 43, where only five cases of AdCC were positive. Six cases of PA and three cases of PLGA were also positive.Our results suggest that the use of GFAP, SMA, CD 117 and CD 43 as an adjunct to histological examination is not helpful in differentiating PA, AdCC and PLGA from one another.

  4. MYB fusions and CD markers as tools for authentication and purification of cancer stem cells from salivary adenoid cystic carcinoma

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    Alex Panaccione

    2017-05-01

    Full Text Available Cancer stem cells (CSC are considered the major cause of aggressive tumor behavior, recurrence, metastases, and resistance to radiation, making them an attractive therapeutic target. However, isolation of CSC from tumor tissue and their characterization are challenging due to uncertainty about their molecular markers and conditions for their propagation. Adenoid cystic carcinoma (ACC, which arises predominantly in the salivary glands, is a slow-growing but relentless tumor that frequently invades nerves and metastasizes. New effective treatment approaches for ACC have not emerged over the last 40 years. Previously, based on a highly conserved SOX10 gene signature that we identified in the majority of ACC tumors, we suggested the existence in ACC of SOX10+ cells with neural stem properties and corroborated this hypothesis via isolation from ACC tissue a novel population of CSC, termed ACC-CSC. These cells activated NOTCH1 signaling and co-expressed SOX10 and other ACC-intrinsic neural crest stem cell markers with CD133, a CSC cell surface marker, suggesting that ACC is driven by a previously uncharacterized population of SOX10+/CD133+ cells with neural stem cell properties. Here, we authenticated ACC identity of our primary cultures by demonstrating that most of them harbor MYB-NFIB fusions, which are found in 86% of ACC. We demonstrated using CyTOF, a novel mass cytometry technology, that these cells express high β-catenin and STAT3 levels and are marked by CD24 and CD44. Finally, to streamline development of ACC cell lines, we developed RT-PCR tests for distinguishing mouse and human cells and used immunomagnetic cell sorting to eliminate mouse cells from long-term cell cultures. Overall, this study describes a new population of CSC that activates signaling pathways associated with poor prognosis, validates their ACC identity, and optimizes approaches that can be used for purification of ACC-CSC and generation of cell lines.

  5. The Role of Radiation Therapy in the Treatment of Adenoid Cystic Carcinoma of the Head and Neck

    International Nuclear Information System (INIS)

    Kim, Won Dong; Park, Charn Il; Kim, Kwang Hyun

    1992-01-01

    Forty eight patients with adenoid cystic carcinoma(ACC) in the head and beck treated between 1979 and 1990 were reviewed according to treatment modalities and clinical courses. The common site of origin was minor salivary gland (69%), mostly had palate and maxillary sinus. 11 patients received radiation therapy(RT) alone and 37 patients received combined surgery and radiation therapy. The follow-up period of the survivors ranged from 4 to 118 months (median 49.5 months). The 5 year local control rate was 69.3%, 67.3% and 83.9% in RT alone, conservative operation(OP)+RT and radical OP+RT group, respectively(p>0.05). The control of local disease was best achieved with radical OP+RT. In postoperative RT, high dose (≥60 Gy) and generous field size (>64cm 2 ) yielded a better local control rate. Actuarial overall survival rate was 79.0%, at 5 years and 19.2% at 10 years. Distant metastases (DM) developed in 40% of patients, mostly in the lung. Disease-free(NED) survival rate was 45.8%, at 5 years and significant differences did not exist according to primary sites and treatment options. Survival rate after the onset of DM was 19.5% at 5 years. Occurrence of DM tends to lower survival significantly. In an effort to find the role of RT in the treatment of ACC, our data suggest that a well-planned postoperative RT employing a high dose and generous field size can produce high local control rate and remaining urgent problem of distant metastasis demands more effective chemotherapy for the purpose of improving survival of ACC patients

  6. Primary adenoid cystic carcinoma of the tracheobronchial tree: A decade-long experience at a health centre in Mexico

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    Arturo Cortés-Télles

    2012-01-01

    Full Text Available Background : Mexico′s National Institute of Respiratory Diseases (NIRD is a third-level national reference center. Primary adenoid cystic carcinoma (PACC is an uncommon neoplastic disorder; hence improvements in the description of this disease are needed. Materials and Methods: This is a retrospective clinical study based on all consecutive patients with pathological diagnoses of PACC seen at the NIRD between January 1, 2000 and December 31, 2009. Results: We identified 9 cases of PACC (67% female out of a total of 2,634 patients with lung cancer seen during the period analyzed. The mean age of those 9 patients was 41 years (IQR 36-57, and the frequency of PACC at our center was 0.3%. It is important to note that 67% of those patients had a history of smoking and that 6 of the 9 had the antecedent of previous exposure to biomass fuel smoke. Baseline arterial blood gas analyses revealed a median of 61 mmHg for pO 2 and 28.5 mmHg for pCO 2 . Median FVC was 78%, while FEV 1 was 77% with an FEV 1 /FVC ratio of 78. Death occurred in 56% of cases, and the median survival time was 17 months (IQR 6-26 after the initial diagnosis. Conclusions: The frequency of tracheobronchial PACC among patients with lung cancer was similar to that previously reported (0.3%. According to our results, lung function has no specific phenotype in this disease; however, some abnormalities could be related to potential risk factors such as tobacco use and exposure to biomass fuel smoke.

  7. Epithelial mesenchymal transition is required for acquisition of anoikis resistance and metastatic potential in adenoid cystic carcinoma.

    Directory of Open Access Journals (Sweden)

    Jun Jia

    Full Text Available Human adenoid cystic carcinoma (ACC is characterized by diffused invasion of the tumor into adjacent organs and early distant metastasis. Anoikis resistance and epithelial mesenchymal transition (EMT are considered prerequisites for cancer cells to metastasize. Exploring the relationship between these processes and their underlying mechanism of action is a promising way to better understand ACC tumors. We initially established anoikis-resistant sublines of ACC cells; the variant cells revealed a mesenchymal phenotype through Slug-mediated EMT-like transformation and displayed enhanced metastatic potential both in vitro and in vivo. Suppression of EMT by knockdown of Slug significantly impaired anoikis resistance, migration, and invasion of the variant cells. With overexpression of Slug and Twist, we determined that induction of EMT in normal ACC cells could prevent anoikis, albeit partially. These findings strongly suggest that EMT is indispensable in anoikis resistance, at least in ACC cells. Furthermore, we found that the EGFR/PI3K/Akt pathway acts as the common regulator for EMT-like transformation and anoikis resistance, as confirmed by their specific inhibitors. Gefitinib and LY294003 restored the sensibilities of anoikis-resistant cells to anoikis and simultaneously impaired their metastatic potential. In addition, the results from our in vivo model of metastasis suggest that pretreatment with gefitinib promotes mouse survival by alleviating pulmonary metastasis. Most importantly, immunohistochemistry of human ACC specimens showed a correlation between the overexpression of Slug and EGFR staining. This study has demonstrated that Slug-mediated EMT-like transformation is required by human ACC cells to achieve anoikis resistance and their metastatic potential. Targeting the EGFR/PI3K/Akt pathway holds potential as a preventive strategy against distant metastasis of ACC.

  8. The PRKD1 E710D hotspot mutation is highly specific in separating polymorphous adenocarcinoma of the palate from adenoid cystic carcinoma and pleomorphic adenoma on FNA

    DEFF Research Database (Denmark)

    Andreasen, Simon; Melchior, Linea Cecilie; Kiss, Katalin

    2018-01-01

    BACKGROUND: Polymorphous adenocarcinoma (PAC) of the palatal minor salivary glands, previously known as polymorphous low-grade adenocarcinoma, is the second most common intraoral malignant salivary gland carcinoma after adenoid cystic carcinoma (ACC) and carries an excellent prognosis. Unfortunat......BACKGROUND: Polymorphous adenocarcinoma (PAC) of the palatal minor salivary glands, previously known as polymorphous low-grade adenocarcinoma, is the second most common intraoral malignant salivary gland carcinoma after adenoid cystic carcinoma (ACC) and carries an excellent prognosis....... Unfortunately, PAC demonstrates cytological overlap with 2 other salivary gland tumors frequently encountered in the same location, namely ACC and pleomorphic adenoma (PA). Recently, the protein kinase D1 (PRKD1) hotspot mutation E710D was demonstrated to be specific for PAC and to be present in the majority...... of cases. The objective of the current study was to investigate the value of PRKD1 hotspot sequencing in identifying PAC in paired fine-needle aspiration (FNA) and surgical specimens from cases of PAC, ACC, and PA. METHODS: Paired May-Grunwald-Giemsa-stained FNA and corresponding surgical specimens were...

  9. [Inhibitory effect and underlying mechanism of total saponins from Paris polyphylla var. yunnanensis on the proliferation of salivary adenoid cystic carcinoma ACC-83 cells].

    Science.gov (United States)

    Qiumin, He; Biao, Xu; Weihong, Wang; Chongyun, Bao; Shaowei, Hu

    2017-06-01

    To investigate the inhibitory effect and underlying mechanism of total saponins from Paris polyphylla var. yunnanensis on the proliferation of salivary adenoid cystic carcinoma ACC-83 cells. In vitro cell culture was performed. The proliferation of ACC-83 cells treated with different concentrations (5, 10, 20, 40, 60, 80, 100 μg·mL⁻¹) of total saponins from Paris polyphylla var. yunnanensis was observed using CCK-8 assay. Meanwhile, the apoptosis of ACC-83 cells treated with different concentrations (25, 50, 100 μg·mL⁻¹) of the total saponins was observed using flow cytometry. The expression levels of macrophage migration inhibitory factor (MIF) and CD74 were measured using Western blot and reverse transcription-polymerase chain reaction. The total saponins from Paris polyphylla var. yunnanensis induced apoptosis and expressed dose-effect relationship. ACC-83 cells expressed MIF and CD74, and the total saponins suppressed MIF and CD74 expression in ACC-83 cells. The total saponins from Paris polyphylla var. yunnanensis can significantly inhibit the proliferation, suppress MIF and CD74 expression, and promote apoptosis in ACC-83 cells. This study provides a theoretical basis for the treatment of salivary adenoid cystic carcinoma using Paris polyphylla var. yunnanensis.
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  10. Combined treatment of adenoid cystic carcinoma with cetuximab and IMRT plus C12 heavy ion boost: ACCEPT [ACC, Erbitux® and particle therapy

    International Nuclear Information System (INIS)

    Jensen, Alexandra D; Nikoghosyan, Anna; Hinke, Axel; Debus, Jürgen; Münter, Marc W

    2011-01-01

    Local control in adjuvant/definitive RT of adenoid cystic carcinoma (ACC) is largely dose-dependent leading to the establishment of particle therapy in this indication. However, even modern techniques leave space for improvement of local control by intensification of local treatment. Radiation sensitization by exploitation of high EGFR-expression in ACC with the EGFR receptor antibody cetuximab seems promising. The ACCEPT trial is a prospective, mono-centric, phase I/II trial evaluating toxicity (primary endpoint: acute and late effects) and efficacy (secondary endpoint: local control, distant control, disease-free survival, overall survival) of the combined treatment with IMRT/carbon ion boost and weekly cetuximab in 49 patients with histologically proven (≥R1-resected, inoperable or Pn+) ACC. Patients receive 18 GyE carbon ions (6 fractions) and 54 Gy IMRT (2.0 Gy/fraction) in combination with weekly cetuximab throughout radiotherapy. The primary objective of ACCEPT is to evaluate toxicity and feasibility of cetuximab and particle therapy in adenoid cystic carcinoma. Clinical Trial Identifier: http://www.clinicaltrials.gov/ct2/show/NCT01192087 EudraCT number: 2010 - 022425 - 15

  11. Mechanisms of apple polyphenols-induced proliferation inhibiting and apoptosis in a metastatic oral adenoid cystic carcinoma cell line

    Directory of Open Access Journals (Sweden)

    Chao-Qun Zheng

    2013-05-01

    Full Text Available Adenoid cystic carcinoma (ACC is characterized by intensive local invasion and high incidence of distant metastases. Conventional chemotherapy for ACC produces a poor result. We aimed to evaluate the effect of apple polyphenols (APs, a novel nutraceutical agent, on the proliferation and apoptosis levels in a metastatic oral ACC cell line. A metastatic ACC (ACC-M cell line and control cells (MRC-5 cells derived from normal lung tissue were treated with APs at different concentrations. MTT assay was used to determine the in vitro cytotoxicity. The cell cycle distribution and apoptosis levels were measured by flow cytometry. To evaluate the mechanism of APs, vascular endothelial growth factor receptor-2 (VEGFR-2 and caspase-3 messenger ribonucleic acid (mRNA and protein levels were evaluated by reverse transcription-polymerase chain reaction and Western blots, respectively. After cells were cultured for 24 hours or 48 hours, the critical concentration of cytotoxicity of APs in MRC-5 cells was found to be 250 μg/mL. In contrast, in the concentration range of 100–250 μg/mL, the cytotoxicity of APs in ACC-M cells was time- and dose-dependent: ACC-M cell proliferation declined at 100 μg/mL when cultured for 48 hours, whereas growth was not inhibited at the concentrations of APs below 200 μg/mL when cultured for 24 hours. In selected time and dose patterns (ACC-M cells cultured at the concentrations of 150 and 250 μg/mL for 48 hours, the flow cytometry performance showed that apoptosis and necrosis occurred in APs-treated ACC-M cells. Also, in these patterns, VEGFR-2 mRNA and protein levels decreased whereas the levels of caspase-3 increased. In summary, APs could inhibit proliferation and induce apoptosis in ACC-M cells in vitro. These effects may be related to the downregulation of VEGFR-2 expression and the activation of caspase-3 expression.

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

    Science.gov (United States)

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

    2016-01-01

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

  13. Adenoid Cystic Carcinoma of the Submandibular Gland, Locoregional Recurrence, and a Solitary Liver Metastasis More Than 30 Years Since Primary Diagnosis

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    A. Coupland

    2014-01-01

    Full Text Available Adenoid cystic carcinoma (ACC is a relatively rare tumour of the salivary glands, accounting for approximately 5%–10% of all salivary gland tumours. An important feature of ACCs is the long clinical course with a high rate of distant metastases. The preferential sites of metastases are the lung and bone, followed by the brain and liver. Most liver metastases are derived from nonparotid ACCs, and the presentation is often related to local recurrence or metastases to other organs. Solitary metastases to the liver are rare and optimal management is unknown. We present the case of a metastatic ACC to the liver with primary disease presentation at a young age. We discuss our management and other potential treatment modalities.

  14. In vitro angiogenesis and expression of nuclear factor κB and VEGF in high and low metastasis cell lines of salivary gland Adenoid Cystic Carcinoma

    International Nuclear Information System (INIS)

    Zhang, Jiali; Peng, Bin

    2007-01-01

    Adenoid cystic carcinoma is a high malignant carcinoma characterized by intensive local invasion and high incidence of distant metastasis. Although many reports have demonstrated that angiogenesis has played an important role in tumor metastasis, the relationship between metastasis characters and angiogenesis ability in high and low metastasis cell lines of Adenoid cystic carcinoma has rarely been reported. The present study aimed to compare the angiogenesis ability of ACC-M (high metastasis) and ACC-2 (low metastasis) cell lines in vitro. Furthermore, the activity of nuclear factor κappa B and the expression of vascular endothelial growth factor (VEGF) in ACC-2 and ACC-M were also detected. Electrophoretic mobility shift assay was used to detect nuclear factor κappa B activity. Semi-quantitative RT-PCR was used to quantify the mRNA level of VEGF. Immuofluorescence double staining and semi-quantitative confocal laser scanning analysis was carried out to detect nuclear factor κappa B nuclear localization and staining intensity of VEGF. The angiogenesis ability of ACC-M and ACC-2 was compared by an in vitro three-dimensional angiogenic model assay. The vector transfection assay was performed to transfect the PCMV-IκBαM vector into ACCs cell lines expressing the phosphorylation defective IκBαM. Nuclear factor κappa B activity and the rate of nuclear factor κappa B nuclear localization in ACC-M was significantly higher than that in ACC-2. Moreover, ACC-M exhibited higher mRNA and protein levels of vascular endothelial growth factor than ACC-2. VEGF mRNA expression was effectively decreased by inhibition of nuclear factor κappa B activity. Furthermore, ACC-M could remarkably stimulate the migration and tube formation of endothelial cells and induce The umbilical vein endothelial cells sprouting into the gel matrix. These results implicated that ACCs cells with higher metastasis feature might present greater angiogenesis ability

  15. Expression of cancer/testis antigens in salivary gland carcinomas with reference to MAGE-A and NY-ESO-1 expression in adenoid cystic carcinoma.

    Science.gov (United States)

    Beppu, Shintaro; Ito, Yohei; Fujii, Kana; Saida, Kosuke; Takino, Hisashi; Masaki, Ayako; Murase, Takayuki; Kusafuka, Kimihide; Iida, Yoshiyuki; Onitsuka, Tetsuro; Yatabe, Yasushi; Hanai, Nobuhiro; Hasegawa, Yasuhisa; Ijichi, Kei; Murakami, Shingo; Inagaki, Hiroshi

    2017-08-01

    Cancer/testis antigens (CTAs) are detected in cancer cells but not in healthy normal tissues, with the exception of gametogenic tissues. CTAs are highly immunogenic proteins, and thus represent ideal targets for cytotoxic T-lymphocyte-mediated specific immune therapy. The aim of this study was to screen CTA expression in various types of salivary gland carcinoma and to clarify clinicopathological significance of MAGE-A and NY-ESO-1 expression in adenoid cystic carcinomas (AdCCs) of the salivary gland, which is one of the most common salivary gland carcinomas, and usually has a fatal outcome. We used immunohistochemistry to examine the expression of four CTAs (MAGE-A, NY-ESO-1, CT7, and GAGE7) in various types of salivary gland carcinoma (n = 95). When carcinoma cases were divided into low-grade and intermediate/high-grade types, NY-ESO-1 and CT7 were expressed more frequently in intermediate/high-grade carcinomas. We then focused on MAGE-A and NY-ESO-1 expression in a large cohort of adenoid cystic carcinomas (AdCCs) (n = 46). MAGE-A and NY-ESO-1 were frequently expressed in AdCC; specifically, MAGE-A was expressed in >60% of the AdCC cases. MAGE-A expression and tumour site (minor salivary gland) were identified as independent risk factors for locoregional tumour recurrence. These findings suggest that CTAs may be expressed in a variety of salivary gland carcinomas, especially in those with higher histological grades. In addition, MAGE-A, which is frequently expressed in AdCC cases, may be a useful prognostic factor for poorer locoregional recurrence-free survival. © 2017 John Wiley & Sons Ltd.

  16. Adenoid Cystic Carcinoma

    Science.gov (United States)

    ... to Content ASCO.org Conquer Cancer Foundation ASCO Journals Donate eNews Signup f Cancer.net on Facebook t Cancer.net on Twitter q Cancer.net on YouTube g Cancer.net on Google Menu Home Types of Cancer Navigating Cancer Care Coping With Cancer Research and Advocacy Survivorship Blog About ...

  17. Thomsen-Friedenreich (T) antigen as marker of myoepithelial and basal cells in the parotid gland, pleomorphic adenomas and adenoid cystic carcinomas. An immunohistological comparison between T and sialosyl-T antigens, alpha-smooth muscle actin and cytokeratin 14

    DEFF Research Database (Denmark)

    Therkildsen, M H; Mandel, U; Christensen, M

    1995-01-01

    was the only marker of cells in solid undifferentiated areas of adenoid cystic carcinomas. Our study supports the view, that modified "myoepithelial" cells in the tumours consist of a mixture of basal cells and myoepithelial cells. None of the investigated structures was in itself an ideal marker......Controversy centres on the role and identification of myoepithelial (MEC) and basal cells in salivary gland tumours, and recent studies suggest that both basal cells and myoepithelial cells participate in the formation of salivary gland tumours. We have correlated the expression of different well......-known markers of normal MEC/basal cells (i.e. alpha-smooth muscle actin and cytokeratin 14) with T (Thomsen-Friedenreich) antigen and its sialylated derivative: sialosyl-T antigen,) in 17 normal parotid glands and in two tumour types with MEC participation (i.e pleomorphic adenomas (PA) and adenoid cystic...

  18. Expression of beclin 1 in primary salivary adenoid cystic carcinoma and its relation to Bcl-2 and p53 and prognosis

    International Nuclear Information System (INIS)

    Jiang, L.C.; Huang, S.Y.; Zhang, D.S.; Zhang, S.H.; Li, W.G.; Zheng, P.H.; Chen, Z.W.

    2014-01-01

    Beclin 1 plays a critical role in autophagy and functions as a haploinsufficient tumor suppressor. The expression and prognostic significance of beclin 1 in head and neck adenoid cystic carcinoma (ACC) are largely unexplored. Therefore, we investigated the expression of beclin 1, Bcl-2, and p53 in head and neck ACC tissue. Tissue samples from 35 cases (15 females, 20 males) of head and neck ACC were utilized for immunohistochemistry. Beclin 1 expression was observed in 32 cases (91.4%) and considered to be high in 15 cases (42.9%) and low in 20 cases (57.1%). Beclin 1 expression was significantly correlated with a histological growth pattern (P=0.046) and histological grade (P=0.037). Beclin 1 expression was inversely correlated with Bcl-2 expression (P=0.013) and significantly associated with overall survival (P=0.006). Bcl-2 and p53 expression were observed in 21 cases (60.0%) and 16 cases (45.7%). Bcl-2 expression was significantly correlated with perineural invasion (P=0.041) and not associated with overall survival (P=0.053). p53 expression was directly correlated with beclin 1 expression (P=0.044). Our results indicated that beclin 1 may be a novel, promising prognostic factor for clinical outcome in head and neck ACC patients and may play a part in the development of head and neck ACC by interacting with Bcl-2 and p53

  19. Expression of beclin 1 in primary salivary adenoid cystic carcinoma and its relation to Bcl-2 and p53 and prognosis

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    Jiang, L.C.; Huang, S.Y.; Zhang, D.S.; Zhang, S.H.; Li, W.G.; Zheng, P.H.; Chen, Z.W. [Shandong Provincial Hospital Affiliated to Shandong University, Department of Oral and Maxillofacial Surgery, Jinan, China, Department of Oral and Maxillofacial Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan (China)

    2014-03-03

    Beclin 1 plays a critical role in autophagy and functions as a haploinsufficient tumor suppressor. The expression and prognostic significance of beclin 1 in head and neck adenoid cystic carcinoma (ACC) are largely unexplored. Therefore, we investigated the expression of beclin 1, Bcl-2, and p53 in head and neck ACC tissue. Tissue samples from 35 cases (15 females, 20 males) of head and neck ACC were utilized for immunohistochemistry. Beclin 1 expression was observed in 32 cases (91.4%) and considered to be high in 15 cases (42.9%) and low in 20 cases (57.1%). Beclin 1 expression was significantly correlated with a histological growth pattern (P=0.046) and histological grade (P=0.037). Beclin 1 expression was inversely correlated with Bcl-2 expression (P=0.013) and significantly associated with overall survival (P=0.006). Bcl-2 and p53 expression were observed in 21 cases (60.0%) and 16 cases (45.7%). Bcl-2 expression was significantly correlated with perineural invasion (P=0.041) and not associated with overall survival (P=0.053). p53 expression was directly correlated with beclin 1 expression (P=0.044). Our results indicated that beclin 1 may be a novel, promising prognostic factor for clinical outcome in head and neck ACC patients and may play a part in the development of head and neck ACC by interacting with Bcl-2 and p53.

  20. Expression and clinical significance of MAGE and NY-ESO-1 cancer-testis antigens in adenoid cystic carcinoma of the head and neck.

    Science.gov (United States)

    Veit, Johannes A; Heine, Daniela; Thierauf, Julia; Lennerz, Jochen; Shetty, Subasch; Schuler, Patrick J; Whiteside, Theresa; Beutner, Dirk; Meyer, Moritz; Grünewald, Inga; Ritter, Gerd; Gnjatic, Sacha; Sikora, Andrew G; Hoffmann, Thomas K; Laban, Simon

    2016-07-01

    Adenoid cystic carcinoma (ACC) of the head and neck is a rare but highly malignant tumor. Cancer-testis antigens (CTAs) represent an immunogenic family of cancer-specific proteins and thus represent an attractive target for immunotherapy. Eighty-four cases of ACC were identified, the CTAs pan-Melanoma antigen (pan-MAGE; M3H67) and New York esophageal squamous cell carcinoma (NY-ESO-1; E978) were detected immunohistochemically (IHC) and correlated with clinical data. Expression of NY-ESO-1 was found in 48 of 84 patients (57.1%) and of pan-MAGE in 28 of 84 patients (31.2%). Median overall survival (OS) in NY-ESO-1 positive versus negative patients was 130.8 and 282.0 months (p = .223), respectively. OS in pan-MAGE positive versus negative patients was 105.3 and 190.5 months, respectively (p = .096). Patients expressing both NY-ESO-1 and pan-MAGE simultaneously had significantly reduced OS with a median of 90.5 months compared with 282.0 months in negative patients (p = .047). A significant fraction of patients with ACC show expression of the CTAs NY-ESO-1 and/or pan-MAGE with promising immunotherapeutic implications. © 2016 Wiley Periodicals, Inc. Head Neck 38: 1008-1016, 2016. © 2016 Wiley Periodicals, Inc.

  1. Full Mouth Reconstruction of a Skeletal Class II Division 1 Patient with Adenoid Cystic Carcinoma Using an Interim Immediate Obturator and a Definitive Obturator

    Directory of Open Access Journals (Sweden)

    Mehran Bahrami

    2017-01-01

    Full Text Available A 61-year-old female patient with adenoid cystic carcinoma (ACC of the right maxilla and Angle class II division 1 malocclusion had received a subtotal maxillectomy in right side and used a conventional clasp-retained obturator. After implants placement, a maxillary interim immediate obturator (IIO and then a definitive obturator using six endosseous implants were fabricated. During one-year follow-up, the patient was completely satisfied. Ideally, after implants placement in edentulous patients suffering from hemimaxillectomy, an implant-supported obturator (ISO is designed in order to prevent nasal reflux and to improve speech and swallowing. However, in the following case, because of skeletal class II division 1 malocclusion and implants insertion in the premaxilla, using an ISO was impossible because it would cause excessive upper lip protrusion and lack of anterior teeth contact. Therefore, a five-unit implant-supported fixed partial denture (FPD was fabricated in the maxillary anterior segment so that anterior teeth contacts were possible and the patient’s normal lip support was achieved. A bar and three ball attachments were used in the maxillary posterior segment. A closed-hollow-bulb ISO was preferred. Conventional ISO in these patients results in several problems. Using a maxillary anterior FPD along with ISO caused satisfactory results in the current patient.

  2. Adenoid cystic carcinoma of the external auditory canal with metastases to lymph nodes and lungs--problematic diagnosis and treatment based on a case report.

    Science.gov (United States)

    Buda-Nowak, Anna; Swiąder, Małgorzata; Püsküllüoğlu, Mirosława; Dyduch, Grzegorz; Krupiński, Maciej; Krzemieniecki, Krzysztof

    2015-01-01

    Adenoid cystic carcinoma (ACC) of the external auditory canal (EAC) is an exceedingly rare tumor. Despite the slow growth it is characterized by a high malignancy and infiltration of surrounding tissue. Differential diagnosis may be especially difficult if the tumor appears in an atypical localization as it can present with non-specific features. The optimal treatment of this malignancy has not been fully established. We present a case report of a 55-year-old man with ACC of EAC metastasizing to the lymph nodes, lungs and vertebrae, with intracranial involvement. The patient was initially diagnosed with basal cell carcinoma (BCC) of EAC based on MR imaging examinations and excisional biopsy from EAC. Current information about nomenclature, epidemiology, characteristic features and treatment possibilities of ACC are presented and difficulties in making diagnosis are discussed. ACC should be considered among the malignant tumors of EAC. Its natural behavior is probably more unpredictable than commonly thought. Similar cases are rare and our knowledge about the tumor's specificity and prognosis is limited.

  3. MicroRNA profiling of salivary adenoid cystic carcinoma: association of miR-17-92 upregulation with poor outcome.

    Directory of Open Access Journals (Sweden)

    Yoshitsugu Mitani

    Full Text Available Salivary adenoid cystic carcinoma (ACC is a rare relentlessly progressive malignant tumor. The molecular events associated with ACC tumorigenesis are poorly understood. Variable microRNAs (miRNA have been correlated with tumorigenesis of several solid tumors but not in ACC. To investigate the association of miRNAs with the development and/or progression of ACC, we performed a comparative analysis of primary ACC specimens and matched normal samples and a pooled salivary gland standard and correlated the results with clinicopathologic factors and validated selected miRNAs in a separate set of 30 tumors.MiRNA array platform was used for the identification of target miRNAs and the data was subjected to informatics and statistical interrelations. The results were also collected with the MYB-NFIB fusion status and the clinicopathologic features.Differentially dysregulated miRNAs in ACC were characterized in comparison to normal expression. No significant differences in miRNA expression were found between the MYB-NFIB fusion positive and -negative ACCs. Of the highly dysregulated miRNA in ACC, overexpression of the miR-17 and miR-20a were significantly associated with poor outcome in the screening and validation sets.Our study indicates that the upregulation of miR-17-92 may play a role in the biology of ACC and could be potentially targeted in future therapeutic studies.

  4. Genetic profiling reveals cross-contamination and misidentification of 6 adenoid cystic carcinoma cell lines: ACC2, ACC3, ACCM, ACCNS, ACCS and CAC2.

    Directory of Open Access Journals (Sweden)

    Janyaporn Phuchareon

    Full Text Available Adenoid cystic carcinoma (ACC is the second most common malignant neoplasm of the salivary glands. Most patients survive more than 5 years after surgery and postoperative radiation therapy. The 10 year survival rate, however, drops to 40%, due to locoregional recurrences and distant metastases. Improving long-term survival in ACC requires the development of more effective systemic therapies based on a better understanding of the biologic behavior of ACC. Much preclinical research in this field involves the use of cultured cells and, to date, several ACC cell lines have been established. Authentication of these cell lines, however, has not been reported. We performed DNA fingerprint analysis on six ACC cell lines using short tandem repeat (STR examinations and found that all six cell lines had been contaminated with other cells. ACC2, ACC3, and ACCM were determined to be cervical cancer cells (HeLa cells, whereas the ACCS cell line was composed of T24 urinary bladder cancer cells. ACCNS and CAC2 cells were contaminated with cells derived from non-human mammalian species: the cells labeled ACCNS were mouse cells and the CAC2 cells were rat cells. These observations suggest that future studies using ACC cell lines should include cell line authentication to avoid the use of contaminated or non-human cells.

  5. [Experimental study on the expression of NF-κB-P65 protein and apoptosis of adenoid cystic carcinoma cells after radiation treatment].

    Science.gov (United States)

    Wang, Shou-yi; Zhang, Dong-sheng; Wu, Jun-lou; Han, Jun-qing; Zhang, Shi-zhou; Zhang, Jie; Mu, Wen-li

    2011-04-01

    To detect the expression of p65, a subunit of NF-κB proteins, and apoptosis after adenoid cystic carcinoma cells(ACC-2) irradiated by high energy X-ray, and to investigate the interaction between them. ACC-2 cells were cultured and then irradiated by high energy X-ray of different dose(2, 4, 6, 8,10Gy). At the next six time points(1, 3, 6, 10, 24, 48h), the expression of p65 protein in cytoplasm and nucleus was detected by immunocytochemistry and Western blotting. The apoptotic cells were counted by flow cytometry and then observed by TUNEL technique. The data of radiant intensity and apoptotic rate were statistically analyzed by Spearman method with SPSS11.5 software package. In ordinary condition, p65 protein seldom appeared in the nucleus, and mostly stained in the cytoplasm by immunocytochemistry. After irradiation, the protein was observed around the nuclear. Then it went through the nuclear membrane more and more as time going on, finally to the center of the nucleus. The quantity of p65 among the total protein changed gradually after radiation, rising at first, which got to a peak after about 6 to 10 hours, according to the results of Western blotting. At the same time point, p65 protein was found to have a higher expression with a higher dose of irradiation correspondingly. The proportion of apoptotic cells also varied from time to time, and an obvious valley of the apoptotic curve was at the 10th hour after radiation. Compared with the outcome of Western blotting, the results indicated a negative correlation between the apoptotic rate and the radiant intensity or p65 protein expression(P<0.05). The expression of p65 protein is affected by the irradiation of p65 of high energy X-ray, which is dose-time dependent. The proportion of apoptotic cells decreases as the expression increases.

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

    Directory of Open Access Journals (Sweden)

    Janyaporn Phuchareon

    2014-12-01

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

  7. Mutations in the c-Kit Gene Disrupt Mitogen-Activated Protein Kinase Signaling during Tumor Development in Adenoid Cystic Carcinoma of the Salivary Glands

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    Osamu Tetsu

    2010-09-01

    Full Text Available The Ras/mitogen-activated protein kinase (MAPK pathway is considered to be a positive regulator of tumor initiation, progression, and maintenance. This study reports an opposite finding: we have found strong evidence that the MAPK pathway is inhibited in a subset of adenoid cystic carcinomas (ACCs of the salivary glands. ACC tumors consistently overexpress the receptor tyrosine kinase (RTK c-Kit, which has been considered a therapeutic target. We performed mutational analysis of the c-Kit gene (KIT in 17 cases of ACC and found that 2 cases of ACC had distinct missense mutations in KIT at both the genomic DNA and messenger RNA levels. These mutations caused G664R and R796G amino acid substitutions in the kinase domains. Surprisingly, the mutations were functionally inactive in cultured cells. We observed a significant reduction of MAPK (ERK1/2 activity in tumor cells, as assessed by immunohistochemistry. We performed further mutational analysis of the downstream effectors in the c-Kit pathway in the genes HRAS, KRAS, NRAS, BRAF, PIK3CA, and PTEN. This analysis revealed that two ACC tumors without KIT mutations had missense mutations in either KRAS or BRAF, causing S17N K-Ras and V590I B-Raf mutants, respectively. Our functional analysis showed that proteins with these mutations were also inactive in cultured cells. This is the first time that MAPK activity from the RTK signaling has been shown to be inhibited by gene mutations during tumor development. Because ACC seems to proliferate despite inactivation of the c-Kit signaling pathway, we suggest that selective inhibition of c-Kit is probably not a suitable treatment strategy for ACC.

  8. Adding concurrent chemotherapy to postoperative radiotherapy improves locoregional control but Not overall survival in patients with salivary gland adenoid cystic carcinoma—a propensity score matched study

    International Nuclear Information System (INIS)

    Hsieh, Cheng-En; Lin, Chien-Yu; Lee, Li-Yu; Yang, Lan-Yan; Wang, Chun-Chieh; Wang, Hung-Ming; Chang, Joseph Tung-Chieh; Fan, Kang-Hsing; Liao, Chun-Ta; Yen, Tzu-Chen; Fang, Ku-Hao; Tsang, Yan-Ming

    2016-01-01

    To compare the long-term outcomes in patients with salivary gland adenoid cystic carcinoma (SGACC) treated with post-operative chemoradiotherapy (POCRT) versus post-operative radiotherapy (PORT). We retrospectively reviewed the records of 91 SGACC patients treated with surgery followed by PORT (n = 58) or POCRT (n = 33) between 2000 and 2013. Treatment outcomes between groups were compared using propensity score matching (1:1 nearest neighbor). The median radiation dose was 66 Gy, and patients were followed up for a median of 71 months. Cisplatin-based concurrent regimens were the most commonly used chemotherapy schedules. In the entire study cohort, patients undergoing POCRT showed a trend toward higher locoregional control (LRC) rates than those treated with PORT alone at both 5 and 8 years (97 and 97 % versus 84 and 79 %, respectively; P = .066). Distant metastases were the most common form of treatment failure and occurred in 31 (34 %) patients (PORT, n = 17; POCRT, n = 14). After propensity score matching (33 pairs), patients receiving POCRT had 5- and 8 year LRC rates of 97 and 97 %, respectively, compared with 79 and 67 % for patients treated with PORT alone (P = .017). The two groups did not differ significantly in terms of distant metastasis-free survival (DMFS), disease-free survival (DFS), and overall survival (OS). However, a significantly better opioid-requiring pain-free survival (ORPFS) was achieved in POCRT group (P = .038). Subgroup analyses revealed that patients with stage III − IV disease (P = .040 and .017), positive surgical margins (P = .011 and .050), or perineural invasion (P = .013 and .035) had significantly higher 5- and 8 year LRC and ORPFS when treated with POCRT, respectively. In SGACC patients, adding concurrent chemotherapy to PORT may increase LRC and ORPFS rates, particularly in presence of stage III − IV disease, positive surgical margins, or perineural invasion. However, no significant differences in DMFS, DFS, and OS were

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

    Directory of Open Access Journals (Sweden)

    Janyaporn Phuchareon

    2014-10-01

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

  10. Comparison of adenoid cystic carcinomas arising from the parotid gland vs. the submandibular gland: focus on systemic metastasis and tumor-associated blood vessels.

    Science.gov (United States)

    Shin, Da-Yong; Jang, Kyu-Sun; Kim, Bo Young; Choi, Ji Eun; Yoon, Heejei; Ko, Young-Hyeh; Jeong, Han-Sin

    2014-07-01

    Although several studies reported that distant metastasis occurs more frequently in the tumors of submandibular gland (SMG) than parotid gland (PG), why SMG tumors preferentially metastasize to distant organs is not fully understood. We aimed to identify the differential tumor microenvironment for distant metastasis and possible underlying mechanisms. We retrieved 27 cases of 1-4-cm-sized adenoid cystic carcinomas (ACCs) arising from the PG (n = 12) and SMG (n = 15). c-KIT, VEGF-R2, and CD31 staining were quantified by image-based analysis to define the positive expression or tumor-associated vessel areas in two representative sections per case. In addition, angiogenesis-related genomic expression profiling was carried out to explore the underlying mechanism, which was confirmed by RT-PCR and immunohistochemistry. Earlier systemic dissemination within 2 years was detected exclusively in SMG ACCs (5/15). The area of tumor-associated blood vessels was larger in SMG ACCs than PG ACCs, and ACCs showing distant metastasis had greater blood vessel area than those without metastasis. Interestingly, normal SMG had more blood vessels per area than PG. Among angiogenesis-related signals, the level of IL-6 was significantly lower in SMG ACCs than PG ACCs. Moreover, IL-6 expression decreased significantly in SMG ACCs compared with that in normal SMG, whereas it was up-regulated in PG ACCs. ACCs in the SMG microenvironment have more abundant tumor-associated blood vessels than PG ACCs, which may explain the higher risk of distant metastasis from SMG tumors. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Re-irradiation of adenoid cystic carcinoma: Analysis and evaluation of outcome in 52 consecutive patients treated with raster-scanned carbon ion therapy

    International Nuclear Information System (INIS)

    Jensen, Alexandra D.; Poulakis, Melanie; Nikoghosyan, Anna V.; Chaudhri, Naved; Uhl, Matthias; Münter, Marc W.; Herfarth, Klaus K.; Debus, Jürgen

    2015-01-01

    Background: Treatment of local relapse in adenoid cystic carcinoma (ACC) following prior radiation remains a challenge: without the possibility of surgical salvage patients face the choice between palliative chemotherapy and re-irradiation. Chemotherapy yields response rates around 30% and application of tumouricidal doses is difficult due to proximity of critical structures. Carbon ion therapy (C12) is a promising method to minimize side-effects and maximize re-treatment dose in this indication. We describe our initial results for re-irradiation in heavily pre-treated ACC patients. Methods: Patients treated with carbon ion therapy between 04/2010 and 05/2013 (N = 52 pts, median age: 54 a) were retrospectively evaluated regarding toxicity (NCI CTC v.4), tumour response (RECIST) and control rates. 48 pts (92.3%) received carbon ions only, 4 pts received IMRT plus C12. Results: 4 pts were treated following R1-resection, 43 pts for inoperable local relapse. Most common tumour sites were paranasal sinus (36.5%), parotid (19.2%), and base of skull (17.3%). Pts received a median dose of 51 GyE C12/63 Gy BED and cumulative dose of 128 Gy BED [67–182 Gy] after a median RT-interval of 61 months. Median target volume was 93 ml [9–618 ml]. No higher-grade (>°II) acute reactions were observed, 7 pts showed blood–brain-barrier changes (°I/II: 8 pts; °III: 2 pts), 1 pt corneal ulceration, xerophthalmia 7 pts, °IV bleeding 1 pt, tissue necrosis 2 pts, otherwise no significant late reactions. Objective response rate (CR/PR) was 56.6%. With a median follow-up of 14 months [1–39 months] local control and distant control at 1a are 70.3% and 72.6% respectively. Of the 18 pts with local relapse, 13 pts have recurred in-field, 1 pt at the field edge, 3 pts out of field, and one in the dose gradient. Conclusion: Despite high applied doses, C12 re-irradiation shows moderate side-effects, response rates even in these heavily pre-treated patients are encouraging and present a

  12. Preliminary results of radiation therapy for locally advanced or recurrent adenoid cystic carcinomas of the head and neck using combined conventional radiation therapy and hypofractionated inverse planned stereotactic radiation therapy

    International Nuclear Information System (INIS)

    Nomoto, Satoshi; Shioyama, Yoshiyuki; Ohga, Saiji

    2009-01-01

    The purpose of this study was to investigate the clinical outcomes and feasibility of combined conventional radiation therapy (RT) and hypofractionated inverse planned stereotactic radiation therapy (SRT) for locally advanced or recurrent adenoid cystic carcinomas (ACCs) of the head and neck. Five patients with ACCs of the head and neck were treated with combined conventional RT and inverse planned SRT. Radiation doses of 40 to 50 Gy were delivered with 20 to 25 fractions using conventional RT, and then an additional 20 to 25 Gy was delivered by 4 to 5 fractions of SRT. Median follow-up was 12 months. Local control was obtained in all 5 patients, partial response (PR) in 2 patients and stable disease (SD) in 3 patients. According to the Radiation Therapy Oncology Group (RTOG) late-radiation morbidity scoring criteria, adverse effects included Grade 2 xerostomia in 1 patient, Grade 2 trismus in 1 patient, and Grade 4 mucosal ulceration in 1 patient. Combined treatment with conventional RT and hypofractionated inverse planned SRT may be effective for short-term local control in patients with locally advanced or recurrent ACCs. Further evaluation is needed for long-term follow-up. (author)

  13. Enlarged Adenoids (For Parents)

    Science.gov (United States)

    ... frequent "sinus" symptoms ongoing middle ear infections or middle ear fluid in a school-aged child If enlarged adenoids are suspected, the doctor may ... apnea repeated infections frequent sinus infections ear infections, ... your child's adenoids removed is especially important if repeated infections ...

  14. Morphological heterogeneity of oral salivary gland carcinomas: a clinicopathologic study of 41 cases with long term follow-up emphasizing the overlapping spectrum of adenoid cystic carcinoma and polymorphous low-grade adenocarcinoma.

    Science.gov (United States)

    Schwarz, Stephan; Müller, Maximilian; Ettl, Tobias; Stockmann, Philipp; Zenk, Johannes; Agaimy, Abbas

    2011-04-01

    We analyzed 41 oral salivary gland carcinomas from consecutive 290 salivary gland carcinoma database (14%) with emphasis on the histological spectrum and clinical outcome of adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA). The cohort included 14 ACCs, 14 mucoepidermoid carcinomas (MECs), 8 PLGAs, 3 adenocarcinomas, not otherwise specified and 2 acinic cell carcinomas. Mean age was 48, 58 and 61 yrs for ACC, MEC and PLGA, respectively. Eight patients (19.5%) died of tumor at a mean interval of 66.5 months. ACC and PLGA showed similar mean age, gender distribution, predominant palatal localization, nodal metastasis, perineural invasion and MIB-1 index. However, ACC tended to show higher tumor stage and residual tumor (R1/R2) more frequently than PLGA, but this was statistically not significant. ACC and PLGA showed overlapping architectural patterns. However, ACCs displayed well organized basal-luminal differentiation, highlighted by CK5/CK7 immunostaining. In contrast, PLGA showed a disorganized histological and immunohistological pattern. C-Kit expression (CD117) was common in ACC, generally mirroring that of CK7 and virtually lacking in PLGA. Kaplan-Meier analysis demonstrated a similar clinical course for ACC and PLGA with 5 years survivals of 87% and 80%, respectively. Fluorescence in situ hybridization (FISH) performed on all 290 salivary carcinomas confirmed the specificity of the translocation t (11; 19) for MEC and its absence in all other carcinomas including ACC and PLGA. Our results emphasize the diversity of oral salivary gland carcinomas and the overlapping clinicopathological features of ACC and PLGA.

  15. Inverse planned stereotactic intensity modulated radiotherapy (IMRT) in the treatment of incompletely and completely resected adenoid cystic carcinomas of the head and neck: initial clinical results and toxicity of treatment

    International Nuclear Information System (INIS)

    Münter, MW; Schulz-Ertner, D; Hof, H; Nikoghosyan, A; Jensen, A; Nill, S; Huber, P; Debus, J

    2006-01-01

    Presenting the initial clinical results in the treatment of complex shaped adenoid cystic carcinomas (ACC) of the head and neck region by inverse planned stereotactic IMRT. 25 patients with huge ACC in different areas of the head and neck were treated. At the time of radiotherapy two patients already suffered from distant metastases. A complete resection of the tumor was possible in only 4 patients. The remaining patients were incompletely resected (R2: 20; R1: 1). 21 patients received an integrated boost IMRT (IBRT), which allow the use of different single doses for different target volumes in one fraction. All patients were treated after inverse treatment planning and stereotactic target point localization. The mean folllow-up was 22.8 months (91 – 1490 days). According to Kaplan Meier the three year overall survival rate was 72%. 4 patients died caused by a systemic progression of the disease. The three-year recurrence free survival was according to Kaplan Meier in this group of patients 38%. 3 patients developed an in-field recurrence and 3 patient showed a metastasis in an adjacent lymph node of the head and neck region. One patient with an in-field recurrence and a patient with the lymph node recurrence could be re-treated by radiotherapy. Both patients are now controlled. Acute side effects >Grade II did only appear so far in a small number of patients. The inverse planned stereotactic IMRT is feasible in the treatment of ACC. By using IMRT, high control rates and low side effects could by achieved. Further evaluation concerning the long term follow-up is needed. Due to the technical advantage of IMRT this treatment modality should be used if a particle therapy is not available

  16. 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 Surveillance, Epidemiology, and End Results registry.

    Science.gov (United States)

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

    2012-08-15

    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. The authors identified 5349 patients who had ACC of the 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. ACC of the eye and orbit was associated with younger age at presentation (mean age,49.9 years). ACC of the skin or breast tended to present with less aggressive prognostic features, whereas ACC of the lung and bronchus or eye and orbit tended to present with more aggressive prognostic features. In a multivariate survival analysis of patients who presented with localized disease, patients with ACC of the breast (hazard ratio [HR], 0.40) or skin (HR, 0.40) had a significantly lower risk death than patients with ACC of the major salivary glands; whereas patients with ACC of the lung and bronchus (HR, 3.72) or the eye and orbit (HR, 3.67) had a significantly higher risk. For patients who presented with regional disease, the only clear prognostic difference in multivariate analysis was that patients with ACC of skin fared significantly better. The demographics and clinical features of patients with ACC differ by disease site. The current results indicated that site may be an important predictor of survival for patients who present with localized disease but is less important for patients who present with regional disease. Copyright © 2011 American Cancer Society.

  17. adenoid cystic carcinoma (cylindroma) review and management

    African Journals Online (AJOL)

    Scientific Medical Journal. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 12, No 4 (2000) >. Log in or Register to get access to full text downloads.

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

    Directory of Open Access Journals (Sweden)

    Taiwo Olugbemiga Adedeji

    2016-01-01

    Full Text Available Background: Adenoid hypertrophy is one of the most common health problems affecting the paediatric population. This study aims to correlate adenoidal nasopharyngeal ratio (ANR with symptoms of enlarged adenoids in children with enlarged adenoids. Materials and Methods: It was a year, cross-sectional, hospital-based study conducted at Lautech Teaching Hospital, Osogbo. ANR was determined by dividing adenoidal depth with nasopharyngeal depth on the plain lateral radiographs. Results: A total of 90 consecutive children consisting of 61 males and 29 females were included in the study with M:F ratio of 2.1:1. Their ages ranged from 8 months to 11 years. All the patients presented with nasal obstruction, mouth breathing and noisy breathing. Majority (64.5% had severe obstructions with preponderance among children of 3-5 years (39.9%. Linear regression analysis showed significant association between age and ANR (t = 10.447, P < 0.001. There was high significant association (P < 0.05 between presenting symptoms and degree of nasopharyngeal airway obstruction; for snoring (r = 0.251, P = 0.000, sleep apnoea (r = 0.594, P = 0.000, nasal discharge (r = 0.314, P = 0.001, excessive daytime sleepiness (r = 0.219, P = 0.019 and failure to thrive (r = 0.240, P = 0.011. Conclusion: Lateral X-ray of the nasopharynx is an effective tool to evaluate children with suspected adenoid hypertrophy. It correlates well with patients′ symptoms and provides objective measures of adenoid hypertrophy.

  19. Presence of herpesviruses in adenoid tissues of children with adenoid hypertrophy and chronic adenoiditis.

    Science.gov (United States)

    Karlıdağ, Turgut; Bulut, Yasemin; Keleş, Erol; Alpay, Hayrettin Cengiz; Seyrek, Adnan; Orhan, İsrafil; Karlıdağ, Gülden Eser; Kaygusuz, İrfan

    2012-01-01

    The aim of study was to determine the presence of some of the herpesviruses including herpes simplex virus (HSV), Epstein-Barr virus (EBV), and cytomegalovirus (CMV) in adenoid tissues of children with adenoid hypertrophy (AH) and chronic adenoiditis (CA) and to investigate the potential role of the herpesviruses in patogenesis of AH and CA. A total of 72 patients (41 boys, 31 girls; mean age 4 years and 2 months; range 2 to 9 years) who underwent adenoidectomy or adenotonsillectomy (with or without placement of a ventilation tube) in our clinic between October 2007 and May 2008, were included. The patients were divided into two groups, as AH group (n=42) and the CA group (n=30). Adenoid tissues collected from patients in both groups were analyzed by polymerase chain reaction (PCR) for the presence of HSV, EBV and CMV-DNA. The results of the PCR indicated that 33.3% in the AH group and 36.6% in the CA group were herpesvirus DNA positive. Among the herpesviruses studied, HSV-DNA was detected at the highest level (14.2% and 16.6%, respectively) in both groups, although the difference between the groups was not significant. EBV-DNA positiveness was 11.9% and CMV-DNA was 4.7% in the AH group, whereas, EBV-DNA positiveness was 13.3% and CMV-DNA was 6.6% in the CA group. Herpesviruses were determined at a high rate in adenoid tissue of children with AH and CA, suggesting that there may be a potential relationship between the presence of herpesviruses and occurrence of AH and CA in children. However, more extensive studies are required to elucidate the role of herpesviruses in the pathogenesis of AH or CA.

  20. Adenoidal size in lateral roentgenogram of skull

    Energy Technology Data Exchange (ETDEWEB)

    Won, H. S.; Byun, Y. S.; Hahm, C. K.; Kim, J. J. [College of Medicine, Hanyang University, Seoul (Korea, Republic of)

    1983-03-15

    Adenoid is a kind of tonsil located in the posterior wall of the nasopharynx. Enlargement of the adenoid can produce obstruction of the nasopharynx and eustachian tube. Disturbance in discharge of nasal and paranasal secretions can be a cause of chronic rhinitis, sinusitis and otitis media. The diagnosis of enlarged adenoid by inspection is difficult due to its location. In the lateral roentgenogram of the skull the anterior wall of the adenoid is sharply delineated by air in the nasopharynx. The authors measured the sizes of adenoid and nasopharynx and calculated the adenoid-nasopharyngeal ratio (AN ratio) from 1,000 simple skull lateral roentgenograms of the children between the age of 0 to 16 years. Adenoid size is gradually increasing in the children up to 9 years of age but almost uncharged in the older age group. The AN ratio is highest in the age group of 8-9 years. In the age groups above 9 years of age the AN ratio is gradually decreased due to atrophic changes of the adenoid.

  1. Adenoidal size in lateral roentgenogram of skull

    International Nuclear Information System (INIS)

    Won, H. S.; Byun, Y. S.; Hahm, C. K.; Kim, J. J.

    1983-01-01

    Adenoid is a kind of tonsil located in the posterior wall of the nasopharynx. Enlargement of the adenoid can produce obstruction of the nasopharynx and eustachian tube. Disturbance in discharge of nasal and paranasal secretions can be a cause of chronic rhinitis, sinusitis and otitis media. The diagnosis of enlarged adenoid by inspection is difficult due to its location. In the lateral roentgenogram of the skull the anterior wall of the adenoid is sharply delineated by air in the nasopharynx. The authors measured the sizes of adenoid and nasopharynx and calculated the adenoid-nasopharyngeal ratio (AN ratio) from 1,000 simple skull lateral roentgenograms of the children between the age of 0 to 16 years. Adenoid size is gradually increasing in the children up to 9 years of age but almost uncharged in the older age group. The AN ratio is highest in the age group of 8-9 years. In the age groups above 9 years of age the AN ratio is gradually decreased due to atrophic changes of the adenoid

  2. Possible role of apoptosis in pathogenesis of adenoid hypertrophy and chronic adenoiditis: Prospective case-control study.

    Science.gov (United States)

    Önal, Merih; Yılmaz, Taner; Bilgiç, Elif; Müftüoğlu, Sevda; Sözen, Tevfik; Bajin, Münir Demir

    2015-12-01

    Apoptosis is a programmed cell death; it provides an important balance between lymphocytes in adenoid tissue. The aim of this study is to investigate the role of apoptosis in chronic adenoiditis and adenoid hypertrophy. This is the first study in the literature about apoptosis in adenoid hypertrophy and chronic adenoiditis. Prospective case-control study in a tertiary referral university hospital was conducted. 46 patients who had chronic adenoiditis and adenoid hypertrophy underwent adenoidectomy. Adenoids were evaluated for apoptosis and assembled into groups according to their size. Apoptotic cells were counted in three different microscopic fields and their average was taken for every microcompartment. As a result of immunohistochemical staining, specimens were compared for their apoptotic cell rate. The difference in apoptosis of chronic adenoiditis and adenoid hypertrophy groups is statistically significant (phypertrophy groups revealed significant differences for intrafollicular and intraepithelial areas, and insignificant differences for interfollicular and subepithelial areas. Although apoptosis could not totally explain the pathogenesis of chronic adenoiditis and adenoid hypertrophy, it appeared to play an important role in it. Apoptosis functions to limit adenoid hypertrophy. Adenoid apoptosis appears to be age-dependent. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Lymphocyte subpopulations in hypertrophied adenoid in children.

    Science.gov (United States)

    Musiatowicz, M; Wysocka, J; Kasprzycka, E; Hassmann, E

    2001-05-31

    Adenoid hypertophy is a common feature of childhood. It is currently accepted that it is caused by the antigen-stimulated increased activity of lymphocyte B (D. Bani, O. Gallo, O. Fini-Storchi, Intraepithelial lymphocyte subpopulations and dendritic accessory cells in normal and hypertrophic adenoids, Laryngoscope 10 (1994) 869-873). The adenoid decreases its size with age but the accompanying function alterations are not fully understood (L. Zawadzka-Glos, M. Chmielik, M. Wasik, Cell mediated response in hypertrophied tonsils in children, Nowa Pediatr. 4 (1997) 12-13). The understanding of the adenoid structure that undergoes some changes during the growth period is essential for evaluation of indications for adnoidectomy and assessment of its potential results. The aim of this study was to evaluate lymphocyte subpopulations in adenoid according to age. The analysed material was adenoids removed on the grounds of hypertrophy, which caused obstructive symptoms and/or otitis media with effusion onset. In the present study, we did not find any statistically significant differences among lymphocytes B, Th, and Ts subpopulations, respectively, in the adenoids of any of the age groups. We have found a statistically significant CD3(+) HLA-DR(+) cell percentage decrease in the group of children from 5 to 10 and above 10 years of age, respectively. We have also found a statistically significant increase in the percentage of NK (CD3(-) CD16(+) 56(+)) lymphocytes in relation to age. On the grounds of the current study, it may be stated that some changes in lymphocyte subpopulations in the adenoid take place with age.

  4. Adenoid Reservoir for Pathogenic Biofilm Bacteria▿

    Science.gov (United States)

    Nistico, L.; Kreft, R.; Gieseke, A.; Coticchia, J. M.; Burrows, A.; Khampang, P.; Liu, Y.; Kerschner, J. E.; Post, J. C.; Lonergan, S.; Sampath, R.; Hu, F. Z.; Ehrlich, G. D.; Stoodley, P.; Hall-Stoodley, L.

    2011-01-01

    Biofilms of pathogenic bacteria are present on the middle ear mucosa of children with chronic otitis media (COM) and may contribute to the persistence of pathogens and the recalcitrance of COM to antibiotic treatment. Controlled studies indicate that adenoidectomy is effective in the treatment of COM, suggesting that the adenoids may act as a reservoir for COM pathogens. To investigate the bacterial community in the adenoid, samples were obtained from 35 children undergoing adenoidectomy for chronic OM or obstructive sleep apnea. We used a novel, culture-independent molecular diagnostic methodology, followed by confocal microscopy, to investigate the in situ distribution and organization of pathogens in the adenoids to determine whether pathogenic bacteria exhibited criteria characteristic of biofilms. The Ibis T5000 Universal Biosensor System was used to interrogate the extent of the microbial diversity within adenoid biopsy specimens. Using a suite of 16 broad-range bacterial primers, we demonstrated that adenoids from both diagnostic groups were colonized with polymicrobial biofilms. Haemophilus influenzae was present in more adenoids from the COM group (P = 0.005), but there was no significant difference between the two patient groups for Streptococcus pneumoniae or Staphylococcus aureus. Fluorescence in situ hybridization, lectin binding, and the use of antibodies specific for host epithelial cells demonstrated that pathogens were aggregated, surrounded by a carbohydrate matrix, and localized on and within the epithelial cell surface, which is consistent with criteria for bacterial biofilms. PMID:21307211

  5. Adenoids

    Science.gov (United States)

    ... problem. If your child's symptoms are not too bad, he or she may not need treatment. Your child might get nasal spray to reduce ... or she will probably have some throat pain, bad breath, and a runny nose. It can take several days to feel all better.

  6. Cystic medulloblastoma

    International Nuclear Information System (INIS)

    Mahapatra, A.K.; Paul, H.K.; Sarkar, C.

    1989-01-01

    In children medulloblastoma is a commonly encountered posterior fossa midline tumour in which cystic degeneration is not uncommon. A cystic medulloblastoma without solid component has, however, not been described. We report a 12-year-old boy with a posterior fossa midline cystic lesion on CT with surgical and histological confirmation of the diagnosis. (orig.)

  7. [The discussion on relationship between adenoids hypertrophy and food intolerance].

    Science.gov (United States)

    Li, Yaqiong; Sun, Jie; Zhang, Hua

    2013-06-01

    To explore the relationship between food intolerance and adenoidal hypertrophy and accordingly to provide evidence for intolerance and adenoidal hypertrophy. Adenoidal hypertrophy in patients with a total of 111 cases as the experiment group, 30 cases of children with no history of allergies and allergy-related diseases and adenoidal hypertrophy symptoms as the control group, and compared the result of food intolerance between two groups. 1) Food intolerance detected positive rate of adenoidal hypertrophy group was higher than the control group. 2) The distribution of the two groups of children in the extent of food intolerance is different. 3) Adenoid hypertrophy and how many types of the food, which is high, moderate intolerance, are unrelated. 4) The daily consumption of 14 kinds of food, the top three foods of adenoidal hypertrophy group and control group are eggs, milk, cod. Food intolerance is the possible cause of adenoidal hypertrophy. The detection of specific IgG antibodies of food have positive significance in the prevention of adenoidal hypertrophy.

  8. Assessment of nasopharyngeal airway and adenoid by MRI

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Myung Suk; Hur, Gham; Kim, Yong Hoon; Joe, Eun Ok; Lee, Seong Sook [Sanggae Paik Hospital, College of Medicine, Inje University, Seoul (Korea, Republic of)

    1993-09-15

    Adenoid is a kind of tonsil located in the posterior wall of nasopharynx. Enlargement of the adenoid can produce obstruction of the nasopharynx and Eustachian tube. Disturbance in discharge of nasal and paranasal secretions can be a cause of chronic rhinitis, sinusitis, and otitis media. Diagnosis of enlarged adenoid simply by inspection is different due to its location. Measurement of nasopharyngeal airway and adenoid using lateral radiographs of nasopharynx may be inaccurate for magnification and rotation. It was some limitations in demonstrating the actual state of nasopharyngeal airway and adenoid because it gives only two dimensional information. The authors measured the size and areas of nasopharyngeal airway and adenoid using MRI with sagittal and oblique coronal pilot views of T1 weighted spin echo. We categorized the patients into 4 groups according to the scoring system by symptoms such as apnea, mouth breathing, and snoring. The results of several measurment and their ratios were evaluated in these 4 categorized patients. The ratios of area of adenoid and nasopharyngeal airway (AA/Na) in each patient group were 6.52, 7.76, 10.53, 15.93, respectively. And the ratios of adenoid and nasopharyngeal airway (A/N) by Fujioka's method were 0.6, 0.65, 0.69, 0.71, respectively. We found that AA/Na might be the most effective index as an objective indicator in the evaluation of nasopharyngeal obstruction by the enlarged adenoid.

  9. Clinical profile and pattern of adenoid hypertrophy among children ...

    African Journals Online (AJOL)

    Clinical profile and pattern of adenoid hypertrophy among children attending a private hospital in Enugu, South East Nigeria. ... history of allergy 15(57.7%), fever 13(50.0%), Snorring10 (38.4%), expiratory rhonchi 5(19.2%), and mouth breathing 4(15.4%) occurred mostly among children with adenoids hypertrophy.

  10. Plain radiographic evaluation of children with obstructive adenoids

    International Nuclear Information System (INIS)

    Kolo, E.S.; Ahmed, A.O.; Kazeem, M.J.; Nwaorgu, O.G.B.

    2011-01-01

    Background: There are several methods of evaluating adenoidal size pre-operatively. Plain nasopharyngeal radiography is a common investigative modality: it has been advocated, and also condemned. Aim: This study was intended to assess nasopharyngeal airway obstruction by the adenoids using plain X-rays; and also to find correlation if any, with the symptomatology. Methods: This is a retrospective study carried out between January and December 2008. The case notes and plain X-rays of the nasopharynx of 34 paediatric patients with clinical features of obstructive adenoids were analyzed. Results: A total of 34 children were studied, 22 (64.7%) were males and 12 (35.3%) were females. Their ages ranged between 7 months and 10 years: mean age was 3.55 years, standard deviation 2.723. Majority (67.6%) of the children were in the age group 0-4 years. The lowest symptomatology assessment score was 0 and the highest was 3. Children 4 years and below had the highest symptomatology scores. The minimum adenoidal-nasopharyngeal ratio was 0.35 and the maximum was 0.94. There was no significant difference in the mean adenoidal-nasopharyngeal ratio of males and females (t = 0.407; p = 0.692). Many (75.0%) of the children with moderate to severe nasopharyngeal airway obstruction by the adenoids were in the age bracket 0-4 years. The lowest adenoidal-nasopharyngeal ratio score was 0 and the highest was 3. Children 4 years and below had the highest adenoidal-nasopharyngeal ratio scores. There was a very weak nonsignificant correlation between the symptomatology assessment score and the radiological assessment score (r = 0.168; p = 0.375). Conclusion: The adenoidal-nasopharyngeal ratio is reliable in assessing the nasopharyngeal airway in children with obstructive adenoids.

  11. Cystic Fibrosis

    Science.gov (United States)

    ... fixing the CFTR protein. Learn more Living with Cystic Fibrosis A diagnosis of CF is life changing for a family. However, in the last 2 to 3 decades, significant strides have been made so that children born ... Doctor about Cystic Fibrosis Making notes before your visit, as well as ...

  12. Occlusal characteristics of children with hypertrophied adenoids in Nigeria.

    Science.gov (United States)

    Osiatuma, Vivien Ijeoma; Otuyemi, Olayinka Donald; Kolawole, Kikelomo Adebanke; Ogunbanjo, Babatunde Ogunbiyi; Amusa, Yemisi Bola

    2015-03-01

    Nasorespiratory function and its relation to craniofacial growth are of great interest because of the basic biological relationship between form and function, and the accumulating findings of the relationship between mode of breathing, craniofacial growth and orthodontic treatment. The aim of this study was to evaluate the effect of adenoid hypertrophy and sociodemographic variables on the occlusion of children. A total of 180 subjects aged 3-12 years were selected at the Obafemi Awolowo University Teaching Hospital Complex, Ile-Ife, Nigeria. Ninety subjects had hypertrophied adenoids while 90 normal children served as the control group. Orthodontic examinations were carried out and impressions for study models taken. Occlusion was assessed in the anterior-posterior, transverse and vertical planes. Class I relationship was the most prevalent occlusion in both adenoid and control subjects (55.6% and 72.2%, respectively). The occurrence of class II division 1 was significantly higher among adenoid than control subjects (P=0.003). Posterior crossbites occurred significantly more in adenoid subjects in the 9-12 years category. In the vertical plane, the occurrence of deep bite was significantly greater in male than female adenoid subjects. Age had a statistically significant but weak correlation with anterior open bite (r=0.37). Age and BMI also had significant though weak correlations with posterior crossbite in female adenoid subjects (r=0.39 and r=0.36, respectively). Regression analysis also showed that age had a significant effect on the occurrence of anterior open bite, while BMI had a significant effect on the occurrence of class II occlusion in adenoid subjects (Pocclusion in the three planes. Age and BMI have significant effects on the occurrence of anterior open bite and class II division 1 malocclusion respectively in adenoid subjects. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  13. The adenoid-nasopharynx ratio. Its clinical value in children

    International Nuclear Information System (INIS)

    Zou Mingshun

    1997-01-01

    To evaluate the clinical usefulness of adenoid-nasopharynx ratio (A/N ratio) measured on nasopharyngeal lateral plain film, 106 clinical cases of secretory otitis media were selected to measure the A/N ratio before treatment. For patients with A/N ratio of 0.50-0.70, the symptoms improved distinctly after conservative treatment, but one half of patients with A/N ratio ≥ 0.71 required adenoidectomy. A/N ratio is a practical and convenient method for evaluation of the adenoid. A/N ratio ≥ 0.71 indicates pathological enlarged adenoid

  14. Learning about Cystic Fibrosis

    Science.gov (United States)

    ... What do we know about heredity and cystic fibrosis? Cystic fibrosis (CF) is the most common, fatal genetic ... FAQ Top of page Additional Resources for Cystic Fibrosis Information Cystic Fibrosis [ghr.nlm.nih.gov] Summary FAQ from ...

  15. The adenoid as a key factor in upper airway infections.

    Science.gov (United States)

    van Cauwenberge, P B; Bellussi, L; Maw, A R; Paradise, J L; Solow, B

    1995-06-01

    The adenoids (and the nasopharynx) play a key role in the normal functioning and in various pathologies of the upper respiratory tract. In this paper the role of adenoidal pathology and the beneficial effect of adenoidectomy in some upper respiratory tract and facial anomalies and diseases are discussed; otitis media with effusion, recurrent acute otitis media, sinusitis, snoring and sleep apnea and abnormal patterns in the midface growth and development.

  16. Role of Chlamydia pneumoniae in the pathogenesis of hypertrophy and adenoid tissue inflammation in children.

    Science.gov (United States)

    Bielicka, Anna; Zielnik-Jurkiewicz, Beata; Podsiadły, Edyta; Prochorec-Sobieszek, Monika; Rogulska, Joanna; Demkow, Urszula

    2016-10-31

    A tropism to epithelial cells and lymphocytes, an inhibition of apoptosis in host cells, an ability to occurrence in persistent form resistant to antibiotic treatment are the features of Chlamydia pneumoniae, which can have connection with chronic inflammation of an adenoid tissue and adenoid hypertrophy. This study aimed to (1) detect the C. pneumoniae in an adenoid in children undergoing adenoidectomy, (2) estimate a connection between C. pneumoniae occurrence and the size of adenoid, (3) demonstration in which of adenoid cells C. pneumoniae occurs most often. The examined group consisted of 200 children aged from 2 to 16 years (mean age 6,4) undergoing adenoidectomy. In all children during qualification for adenoidectomy a fiberoscopic examination of the nasopharynx was performed. A part of removed adenoid tissue was analysed by real-time PCR for C. pneumoniae. Adenoids from children with positive PCR examination and from 10 children with negative PCR examination were examined using immunohistochemistry (IHC). C. pneumoniae in the adenoid was present in 5,5% children. Positive results were obtained most frequently (24,14%, 7/29) in the eldest group (10-16 years). A statistical analysis demonstrated the correlation between C. pneumoniae occurrence in an adenoid tissue and the size of adenoid. In immunohistochemistry C. pneumoniae was found the most frequently in lymphocytes and in epithelial cells. A presence of C. pneumoniae in lymphocytes and epithelial cells of the adenoid first of all in older children with adenoid hypertrophy confirms the participation of this bacteria in adenoid pathology.

  17. About Cystic Fibrosis

    Science.gov (United States)

    ... Research Share Back to top What Is Cystic Fibrosis? Cystic fibrosis is a progressive, genetic disease that causes ... carrier. Read more about diagnosis. According to the Cystic Fibrosis Foundation Patient Registry, in the United States: More ...

  18. Therapies for Cystic Fibrosis

    Science.gov (United States)

    ... Search What Is CF? X close ABOUT CYSTIC FIBROSIS Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, ... or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, ...

  19. Cystic Fibrosis and Pregnancy

    Science.gov (United States)

    ... Complications & Loss > Pregnancy complications > Cystic fibrosis and pregnancy Cystic fibrosis and pregnancy E-mail to a friend Please ... this page It's been added to your dashboard . Cystic fibrosis (CF) is a condition that affects breathing and ...

  20. The adenoid: Its history and a cautionary tale.

    Science.gov (United States)

    Ruben, Robert J

    2017-06-01

    The existence of the adenoid first appears to have been noted by Conrad Victor Schneider in 1661. James Yearsley reported in 1842 one case in which he improved hearing by removal of a mucus membrane from behind the uvula, which indicates some appreciation of a relationship of the nasopharynx to ear disease. Hans Wilhelm Meyer, in 1868, was the first to demonstrate the relationship of the adenoid to ear disease and to develop an effective, although somewhat difficult, surgical operation to remove the adenoid. Removal of the adenoid became rapidly accepted worldwide as a treatment for many morbidities, including otitis, speech problems, cognitive problems, and sleep apnea. Until the 1920s, adenoidectomy often was performed as a staged procedure and without general anesthesia. Early tools and techniques included use of the bare fingernail, a finger ring knife, a curette, and electrical desiccation. From the mid-1930s to the early 1960s, radiation therapy of the adenoid was in extensive use, both for children and in caring for army aviators and navy submarine crews during WWII. The effectiveness of surgical adenoidectomy for hearing loss led to a belief that radiation, which had been found to ablate lymphoid tissue, would be equally effective, and led to the wide-spread use of radiation. Ultimately, 500 thousand to 2.5 million children and adults were estimated to have been treated with radiation, and follow-up studies found increased risk for cancer. Furthermore, a follow-up study by Stacey R. Guild (1890-1966), published in 1950, on a very large sample of children who previously were reported to have had their hearing loss diminished through radiation, found that irradiation had produced no effect on high-tone loss. Thus, irradiation was both useless and harmful. Acceptance of authority, which can lurk within medical culture, led to the development of a tragically misguided management of adenoid disease. Laryngoscope, 127:S13-S28, 2017. © 2017 The American

  1. Radiographic evaluation of adenoidal size in children: methods of measurement and parameters of normality; Avaliacao radiografica da adenoide em criancas: metodos de mensuracao e parametros da normalidade

    Energy Technology Data Exchange (ETDEWEB)

    Araujo Neto, Severino Aires de [Centro de Assistencia Integral a Saude da Mulher (CAISM), Campinas, SP (Brazil)]. E-mail: severinoaires@hotmail.com; Queiroz, Suelio Marinho de [Tomovale, Sao Jose dos Campos, SP (Brazil); Baracat, Emilio Carlos Elias [Universidade Estadual de Campinas, SP (Brazil). Faculdade de Ciencias Medicas. Dept. de Pediatria; Pereira, Ines Minniti Rodrigues [Universidade Estadual de Campinas, SP (Brazil). Faculdade de Ciencias Medicas. Dept. de Radiologia

    2004-12-01

    Radiograph of the nasopharynx is still the most commonly used imaging method to investigate the adenoidal tissue. Due to the variety and complexity of proposed methods to measure the adenoid size, some radiologists prefer subjective evaluation, which can, however, be imprecise and inaccurate. We review and describe several methods to determine the adenoid size, taking into account the practicity, accuracy and precision with the aim of pointing out the best methods to be applied in daily routine practice. (author)

  2. Radiographic adenoid evaluation – suggestion of referral parameters

    Directory of Open Access Journals (Sweden)

    Murilo F.N. Feres

    2014-05-01

    Conclusion: this model was shown to be potentially useful as a screening tool to include patients with, at least, two-thirds adenoid obstruction. Moreover, one of the categorical parameters was demonstrated to be relatively more useful, as well as a potentially safer assessment tool to exclude patients with less than three-quarters obstruction, to be indicated for adenoidectomy.

  3. Adenoid ciliostimulation in children with chronic otitis media.

    Science.gov (United States)

    Andreoli, Steven M; Schlosser, Rodney J; Wang, Ling-Feng; Mulligan, Ryan M; Discolo, Christopher M; White, David R

    2013-01-01

    Adenoid hypertrophy and chronic adenoiditis are associated with an increased incidence of chronic otitis media. This study intends to determine the relationship between chronic otitis media and dynamic ciliary beat frequency in children undergoing adenoidectomy. Prospective, controlled study. Pediatric tertiary care hospital. Children undergoing adenoidectomy were enrolled. Patients were stratified according to their indication for surgery, including adenotonsillar hypertrophy with obstructive sleep apnea, chronic otitis media with effusion, or recurrent episodes of acute otitis media. Adenoids were harvested using the curette. Tissue was sectioned and allowed to equilibrate in basal media for 24 hours. Cilia-bearing tissue was then stimulated using isoproterenol or methacholine. Ciliary beat frequency was serially reordered and analyzed using the Sisson-Ammons Video Analysis software program. Baseline ciliary beat frequency was similar in all groups (N = 47, total). Using isoproterenol, children with chronic otitis media with effusion demonstrated a blunted dynamic ciliary response at 2 and 3 hours relative to control (P = .0176 and P = .0282). Methacholine-stimulated ciliary beat frequency was not different between each group. At 2 and 3 hours following isoproterenol stimulation, there was a significant blunting of dynamic ciliary beat frequency in children with chronic otitis media with effusion. This ciliary dysfunction may provide a physiological explanation related to chronic adenoiditis in children with chronic otitis media.

  4. Radiographic evaluation of adenoidal size in children: methods of measurement and parameters of normality

    International Nuclear Information System (INIS)

    Araujo Neto, Severino Aires de; Queiroz, Suelio Marinho de; Baracat, Emilio Carlos Elias; Pereira, Ines Minniti Rodrigues

    2004-01-01

    Radiograph of the nasopharynx is still the most commonly used imaging method to investigate the adenoidal tissue. Due to the variety and complexity of proposed methods to measure the adenoid size, some radiologists prefer subjective evaluation, which can, however, be imprecise and inaccurate. We review and describe several methods to determine the adenoid size, taking into account the practicity, accuracy and precision with the aim of pointing out the best methods to be applied in daily routine practice. (author)

  5. Cystic Fibrosis (CF): Chloride Sweat Test

    Science.gov (United States)

    ... on this topic for: Parents Kids Teens Cystic Fibrosis Cystic Fibrosis and Nutrition Cystic Fibrosis (CF) Respiratory Screen: Sputum Cystic Fibrosis: Diet and Nutrition Cystic Fibrosis Cystic Fibrosis: Diet and Nutrition View more Partner Message ...

  6. Cystic fibrosis - nutrition

    Science.gov (United States)

    Cystic fibrosis (CF) is a life-threatening disease that causes thick, sticky mucus to build up in the ... Egan ME, Green DM, Voynow JA. Cystic fibrosis. In: Kliegman RM, ... of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap ...

  7. Cystic Meningioma

    International Nuclear Information System (INIS)

    Takeda, Naoya; Fujita, Shigekiyo; Yasuda, Muneaki; Nakamura, Mitsugu; Kondo, Takeshi; Furumoto, Masaru

    1987-01-01

    Cystic meningiomas are rare. A 60-year-old housewife was admitted because of headache and left hemiparesis. An enhanced CT scan revealed a high-density area in the right frontotemporal region, while several well-circumscribed low-density areas were seen in the high-density area. Angiography showed a sun-burst appearance fed by the middle meningeal artery. At surgery, xanthochromic fluid was aspirated and the tumor was removed completely. The pathohistological finding was meningothelial meningioma with an intratumoral cyst. There were variable-sized vacuoles among the tumor cells, and there were some tumor cells with intracytoplasmic fat-stain-positive granules. We speculated that the mechanism of cyst formation is as follows: in the first step, far droplets are stored in the tumor cells; the numbers and/or sizes of the fats gradually increase, and then the intracytoplasmic fats disappear by an unknown mechanism and these cells become vacuoles. In the second step, these vacuoles fuse to microcysts, and the microcysts fuse to macrocysts. (author)

  8. Cystic fibrosis: case report

    International Nuclear Information System (INIS)

    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui

    2002-01-01

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

  9. Cystic fibrosis: case report

    International Nuclear Information System (INIS)

    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui

    2002-01-01

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

  10. Genetic profile of adenoid cystic carcinomas (ACC) with high-grade transformation versus solid type

    NARCIS (Netherlands)

    Costa, A.F.; Altemani, A.; Vékony, H.; Bloemena, E.; Fresno, F.; Suárez, C.; Llorente, J.L.; Hermsen, M.

    2010-01-01

    Background: ACC can occasionally undergo dedifferentiation also referred to as high-grade transformation (ACCHGT). However, ACC-HGT can also undergo transformation to adenocarcinomas which are not poorly differentiated. ACC-HGTis generally considered to be an aggressive variant of ACC, even more

  11. Genetic profile of adenoid cystic carcinomas (ACC) with high-grade transformation versus solid type

    NARCIS (Netherlands)

    Costa, A.F.; Altemani, A.; Vékony, H.; Bloemena, E.; Fresno, F.; Suárez, C.; Llorente, J.L.; Hermsen, M.

    2011-01-01

    Background: ACC can occasionally undergo dedifferentiation also referred to as high-grade transformation (ACC-HGT). However, ACC-HGT can also undergo transformation to adenocarcinomas which are not poorly differentiated. ACC-HGT is generally considered to be an aggressive variant of ACC, even more

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

    DEFF Research Database (Denmark)

    Ganly, Ian; Amit, Moran; Kou, Lei

    2015-01-01

    (range 1-306). The nomogram for OS had 7 variables (age, gender, clinical T stage, tumor site, margin status, pathologic N-status and M-status) with a concordance index (CI) of 0.71. The nomogram for CSM had the same variables, except margin status, with a concordance index (CI) of 0.70. The nomogram...... for RFP had 7 variables (age, gender, clinical T stage, tumor site, margin status, pathologic N status and perineural invasion) (CI 0.66). The nomogram for DRFP had 6 variables (gender, clinical T stage, tumor site, pathologic N-status, perineural invasion and margin status) (CI 0.64). Concordance index...... and subsequent clinical follow-up. They will also identify high risk patients who may benefit from clinical trials on new targeted therapies for patients with ACC. FUNDING: None....

  13. The role of adenoidal obstruction in the pathogenesis of Otitis media ...

    African Journals Online (AJOL)

    Background: Although adenoidectomy is generally applied in the treatment of otitis media with effusion (OME), there is still much debate about the role of adenoid in the pathogenesis of OME. The purpose of this study is to determine the incidence of OME in children with obstructive adenoid disease in comparison with ...

  14. Association of Ugrp2 gene polymorphisms with adenoid hypertrophy in the pediatric population.

    Science.gov (United States)

    Atilla, Mahmut Huntürk; Özdaş, Sibel; Özdaş, Talih; Baştimur, Sibel; Muz, Sami Engin; Öz, Işılay; Kurt, Kenan; İzbirak, Afife; Babademez, Mehmet Ali; Vatandaş, Nilgün

    2017-08-01

    Adenoid hypertrophy is a condition that presents itself as the chronic enlargement of adenoid tissues; it is frequently observed in the pediatric population. The Ugrp2 gene, a member of the secretoglobin superfamily, encodes a low-molecular weight protein that functions in the differentiation of upper airway epithelial cells. However, little is known about the association of Ugrp2 genetic variations with adenoid hypertrophy. The aim of this study is to investigate the association of single nucleotide polymorphisms in the Ugrp2 gene with adenoid hypertrophy and its related phenotypes. A total of 219 children, comprising 114 patients suffering from adenoid hypertrophy and 105 healthy patients without adenoid hypertrophy, were enrolled in this study. Genotypes of the Ugrp2 gene were determined by DNA sequencing. We identified four single nucleotide polymorphisms (IVS1-189G>A, IVS1-89T>G, c.201delC, and IVS2-15G>A) in the Ugrp2 gene. Our genotype analysis showed that the Ugrp2 (IVS1-89T>G) TG and (c.201delC) CdelC genotypes and their minor alleles were associated with a considerable increase in the risk of adenoid hypertrophy compared with the controls (p=0.012, p=0.009, p=0.013, and p=0.037, respectively). Furthermore, Ugrp2 (GTdelCG, GTdelCA) haplotypes were significantly associated with adenoid hypertrophy (four single nucleotide polymorphisms ordered from 5' to 3'; p=0.0001). Polymorfism-Polymorfism interaction analysis indicated a strong interaction between combined genotypes of the Ugrp2 gene contributing to adenoid hypertrophy, as well as an increased chance of its diagnosis (p<0.0001). In addition, diplotypes carrying the mutant Ugrp2 (c.201delC) allele were strongly associated with an increased risk of adenoid hypertrophy with asthma and adenoid hypertrophy with allergies (p=0.003 and p=0.0007, respectively). Some single nucleotide polymorphisms and their combinations in the Ugrp2 gene are associated with an increased risk of developing adenoid hypertrophy

  15. Chlamydia pneumoniae and typical bacteria occurrence in adenoid in children qualified for adenoidectomy.

    Science.gov (United States)

    Bielicka, Anna; Zielnik-Jurkiewicz, Beata; Podsiadły, Edyta; Rogulska, Joanna; Demkow, Urszula

    2014-05-01

    The ability to occur in a persistent form and to inhibit apoptosis in host cells are the features of Chlamydia pneumoniae which may be associated with adenoid hypertrophy. This study aimed to (1) demonstrate the presence of C. pneumoniae DNA in the adenoid in children qualified for adenoidectomy, (2) evaluate the correlation between the presence of C. pneumoniae in the adenoid and the child's age, the size of adenoid, the incidence of recurrent respiratory tract infections, (3) demonstrate the co-occurrence of C. pneumoniae and typical bacteria in the adenoid tissue. A group of 200 children aged from 2 to 16 years (mean age 6.4) undergoing adenoidectomy from February 2010 to May 2011 were enrolled to the study. Adenoid tissue removed during planned adenoidectomy was analyzed for the presence of C. pneumoniae by real-time PCR and for the presence of typical bacteria by bacteriological culture. Statistical analysis was conducted using SPSS PASW Statistics 18 software. C. pneumoniae was detected in the adenoid in 5.5% of the 200 children. Positive results were obtained most frequently (24.1%, 7/29) in the eldest group (10-16 years). In PCR positive children the degree of choanal narrowing by an adenoid tended to be larger than in PCR negative children. The occurrence of C. pneumoniae in the adenoid was not associated with a presence of a specific typical bacterium. The presence of C. pneumoniae in an adenoid was most frequently detected in the children of 10-16 years qualified for adenoidectomy. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

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

    Science.gov (United States)

    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 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. © 2014 Wiley Periodicals, Inc.

  17. Role of adenoid biofilm in chronic otitis media with effusion in children.

    Science.gov (United States)

    Saafan, Magdy Eisa; Ibrahim, Wesam Salah; Tomoum, Mohamed Osama

    2013-09-01

    To study the extent of surface adenoid biofilm and to evaluate its role in the pathogenesis of chronic otitis media with effusion (COME) in children. The study was carried out on 100 children between 3 and 14 years of age, who were divided into two groups. The first group (50 children) had otitis media with effusion associated with adenoid hypertrophy, whereas the second group (50 children) had adenoid hypertrophy without middle ear effusion. Adenoidectomy with ventilation tube insertion was done for group 1 cases, whereas, only Adenoidectomy was done for group 2 cases. Microbiological study, Scanning electron microscope and multiplex- PCR were done for suspected adenoid biofilms and specimens from middle ear effusion. Adenoids removed from children with COME had higher grade biofilm formation (74 %) than the second group (42 %). No correlation was found between adenoid size and biofilm formation. Culture of adenoid tissue in group 1 patients was positive in 52 % of cases compared to 96 % by PCR, while in group 2 culture of adenoid tissue was positive in 38 % compared to 48 % by PCR. Culture of middle ear fluid was positive in 32 % of cases only compared to 80 % by PCR. A positive correlation was found between results of bacterial biofilm visualized by SEM and bacteria detected and identified by PCR technique. On the other hand, no correlation was found between results of bacterial biofilm visualized by SEM and bacteria detected by culture. The size of the adenoid is not the main determinant factor in OME pathogenesis but the degree of bacterial colonization is much more important. Adenoids in COME may act as a reservoir of chronic infection rather than causing mechanical Eustachian obstruction. Higher grade biofilm formation was found in cases with middle ear effusion than those with adenoid hypertrophy only. These findings support the hypothesis that there would be an association between adenoidal biofilm formation and COME. This study focused on the value of PCR

  18. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Cystic fibrosis Cystic fibrosis Printable PDF Open All Close All Enable Javascript ... lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Most people with cystic fibrosis ...

  19. Prevalence of the Helicobacter pylori in the tonsils and adenoids

    Directory of Open Access Journals (Sweden)

    Tuba Bayindir

    2015-06-01

    Full Text Available INTRODUCTION: There is an ongoing debate about the existence and effects of Helicobacter pylori (Hp in adenotonsillar tissue. OBJECTIVE: A clinical study was conducted to assess the existence of Hp in the adenoid and/or adenotonsillar tissues, which were surgically excised due to chronic adenotonsillitis. METHODS: Phosphoglucosamine mutase gene for the detection of Hp and cytotoxin-associated gene as virulence gene were examined in 84 adenotonsillar tissues obtained from 64 patients and patients' serum by using polymerase chain reaction. RESULTS: Hp IgG was detected in 57 (89% patients' serum. A total of seven tissue samples from 64 patients (10.9% were found positive for Hp DNA, of which five were adenoids and two were tonsil tissues. All polymerase chain reaction positive samples were also positive for the cytotoxin-associated gene, which is a virulence determinant for the organism. CONCLUSION: This study suggests that children are exposed to Hp at an early age of their life in this province. Hp may have a role in the pathogenesis of chronic adenotonsillitis, especially in endemic areas.

  20. Neonatal cystic fibrosis screening test

    Science.gov (United States)

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

  1. ON THE ROLE OF BACTERIAL MICROFLORA IN ETIOLOGY OF CHRONIC ADENOIDITIS IN CHILDREN

    Directory of Open Access Journals (Sweden)

    D. A. Tulupov

    2014-01-01

    Full Text Available A review of the results of clinical studies on the role of pathogenic bacterial microflora in etiology of chronic adenoiditis in children is shown in this article. According to the literature data the main cause of the development of chronic diseases of the nasopharynx in children is viral infection. The role of the bacterial microflora is secondary, but nevertheless significant. The main bacterial pathogens isolated from the nasopharynx of children with chronic adenoiditis are Staphylococcus aureus, Haemophilus influenzae and Streptococcus pneumonia. However there is significant dissociation in the prevalence of these bacterial agents according to the data of different scientists. Ability of the bacteria to produce biomembranes plays significant role in formation of persistence of the above-mentioned pathogens in the nasopharynx in chronic adenoiditis. Bacterial biomembranes as well as the revealing of the large amounts of bacteria within the tissues of adenoids determines discussions on possibilities of systemic and topical antibacterial treatment. 

  2. Cystic Granular Cell Ameloblastoma

    OpenAIRE

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

    2010-01-01

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

  3. Diagnosis of cystic fibrosis

    NARCIS (Netherlands)

    H.J. Veeze

    1995-01-01

    textabstractApplying the sweat-test as the first choice of test when a diagnosis of cystic fibrosis is suspected is still common practice and advisable. Since the cloning of the CFTR gene more than 400 different cystic fibrosis (CF) mutations have already been identified. The use of CF mutation

  4. Health-related quality of life among children with adenoid hypertrophy in Xi'an, China.

    Science.gov (United States)

    Jiang, Xun; Ren, Xiaoyong; Liu, Haiqin; Tian, Jiao; Du, Chunyan; Luo, Huanan; Cheng, Ying; Shang, Lei

    2015-12-01

    The aim of this study was to investigate the health-related quality of life (HRQOL) in 5-7-year-old children diagnosed with adenoid hypertrophy and the impact of adenoid hypertrophy on affected families. This is a cross-sectional case-control study evaluating 5-7-year-old children with adenoid hypertrophy (n=195), 5-7-year-old healthy children (n=156), and associated caregivers (parents and/or grandparents). A Chinese version of the PedsQL™ 4.0 Generic Core Scale was used to assess childhood HRQOL, and a Chinese version of the Family Impact Module (FIM) was used to assess the impact of adenoid hypertrophy on family members. HRQOL scores were compared between the children with adenoid hypertrophy and healthy children. In addition, a multiple step-wise regression with demographic variables of children and their caregivers, family economic status, and caregiver's HRQOL as independent variables were referenced to determine the factors that may influence HRQOL in children with adenoid hypertrophy. Children with adenoid hypertrophy showed significantly lower physical, emotional, social, and school functioning scores than healthy children (phypertrophy also scored significantly lower than caregivers for healthy children on physical, emotional, social, cognitive, and communication functioning (phypertrophy-affected children also exhibited significantly higher levels of worry than healthy children (phypertrophy (phypertrophy were associated with lower HRQOL in both children and their caregivers, and may negatively influence family functioning. In addition, caregivers' social characteristics may also significantly affect the HRQOL in children with adenoid hypertrophy. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  5. Effect of adenoid hypertrophy and pulmonary function tests in children with mild asthma.

    Science.gov (United States)

    Aykan, Merve; Aydın, Sedat; Öktem, Sedat; Demir, Mehmet Gökhan; Tutar, Engin

    2016-01-01

    This study aims to assess the effect of adenoid hypertrophy on asthma in children with mild asthma. Between September 2010 and September 2012, 63 children (42 males, 21 females; median age 10.5 years; range 6 to 14 years) admitted to our clinic with asthma complaint were included in this study. These children were evaluated for adenoid hypertrophy, symptoms of asthma, medical treatment, pulmonary function tests at the beginning of the study and at the end of second month. There was no correlation between initial pulmonary function tests and adenoid hypertrophy. But we observed significantly lower forced vital capacity values in children with prominent adenoid hypertrophy (p=0.033). While there was no significant difference in pulmonary function tests in terms of inhaled steroid usage (p>0.05), final forced mid-expiratory flow rate (FEF25-75) values were statistically higher in patients who were using nasal steroids (p=0.015). Consequently, significantly higher values of FEF25-75 in the group that used nasal steroid suggest that adenoid hypertrophy affects the airway obstruction. Moreover, absence of airway obstruction symptoms in patients with mild adenoid hypertrophy suggests pulmonary function tests may help to decide performing adenoidectomy.

  6. Nonencapsulated Streptococcus pneumoniae as a cause of chronic adenoiditis

    Directory of Open Access Journals (Sweden)

    Cheshil Dixit

    2016-01-01

    We present the case of a child with chronic adenoiditis caused by a PspK+ NESp. We tested the pneumococcal isolate, designated C144.66, for antimicrobial resistance, the presence of the pspK gene and the expression of PspK. Sequence typing and genome sequencing were performed. C144.66 was found to be resistant to erythromycin and displayed intermediate resistance to penicillin and trimethoprim/sulfamethoxazole. C144.66 has the pspK gene in place of the capsule locus. Additionally, PspK expression was confirmed by flow cytometry. NESp are a growing concern as an emerging human pathogen, as current pneumococcal vaccines do not confer immunity against them. An inability to vaccinate against NESp may result in increased carriage and associated pathology.

  7. Isolation of Mesenchymal Stromal Cells (MSCs from Human Adenoid Tissue

    Directory of Open Access Journals (Sweden)

    Yoon Se Lee

    2013-04-01

    Full Text Available Background: Mesenchymal stromal cells (MSCs are multipotent progenitor cells that originally derived from bone marrow. Clinical use of bone marrow-derived MSC is difficult due to morbidity and low MSC abundance and isolation efficiency. Recently, MSCs have been isolated from various adult tissues. Here we report the isolation of adenoid tissue-derived MSCs (A-MSCs and their characteristics. Methods: We compared the surface markers, morphologies, and differentiation and proliferation capacities of previously established tonsil-derived MSCs (T-MSCs and bone marrow-derived MSCs (BM-MSCs with cells isolated from adenoid tissue. The immunophenotype of A-MSCs was investigated upon interferon (IFN-γ stimulation. Results: A-MSCs, T-MSCs, and BM-MSCs showed negative CD45, CD31 HLA-DR, CD34, CD14, CD19 and positive CD 90, CD44, CD73, CD105 expression. A-MSCs were fibroblast-like, spindle-shaped non-adherent cells, similar to T-MSCs and BM-MSCs. Adipogenesis was observed in A-MSCs by the formation of lipid droplets after Oil Red O staining. Osteogenesis was observed by the formation of the matrix mineralization in Alizarin Red staining. Chondrogenesis was observed by the accumulation of sulfated glycosaminoglycan-rich matrix in collagen type II staining. These data were similar to those of T-MSCs and BM-MSCs. Expression of marker genes (i.e., adipogenesis; lipoprotein lipase, proliferator-activator receptor-gamma, osteogenesis; osteocalcin, alkaline phasphatase, chondrogenesis; aggrecan, collagen type II α1 in A-MSCs were not different from those in T-MSCs and BM-MSCs. Conclusions: A-MSCs possess the characteristics of MSCs in terms of morphology, multipotent differentiation capacity, cell surface markers, and immunogeneity. Therefore, A-MSCs fulfill the definition of MSCs and represent an alternate source of MSCs.

  8. Evaluation of the relation between adenoids hypertrophy and cranial base angles

    Directory of Open Access Journals (Sweden)

    Dalili Z

    2006-07-01

    Full Text Available Background and Aim: Adenoids are normally large in children and their size starts to reduce during adolescence. Hypertrophic adenoids could be associated with allergic reactions. Enlarged adenoids result in nasal breathing difficulties and the child is forced to switch to mouth breathing. Airway obstruction causes postural alterations of jaw, tongue and head, and due to persistent obstruction, patient’s appearance changes to adenoid face. Evaluation of nasopharyngeal space in lateral cephalometic view is a simple and repeatable method for determination of the size and shape of adenoids and nasopharyngeal space which can provide a simple measurement of nasopharyngeal obstruction. The roof of nasopharyngeal space is covered by the sphenoid bone. Thus changes of nasorespiratory resistance by hypertrophic adenoids may affect the cranial base angles. In this study, the relationship between adenoid hypertrophy and cranial base angles was investigated. Materials and Methods: In this descriptive-analytic study, lateral cephalometric views of 7 to 14 y/o patients from the files of orthodontic centers in Rasht city were selected. The radiographs with proper resolution were separated for this research. Adenoid to nasorespiratory ratio (A/N Ratio was determined by Fujioka method and categorized in three groups: A (A/N 0.8, B (0.5adenoid hypertrophy (A and B groups was observed in 66% of cases whereas 34% were normal. The frequency of narrow, normal and wide cranial base angles

  9. Medical treatment for rhinosinusitis associated with adenoidal hypertrophy in children: an evaluation of clinical response and changes on magnetic resonance imaging

    NARCIS (Netherlands)

    Georgalas, Christos; Thomas, Karen; Owens, Catherine; Abramovich, Solomon; Lack, Gideon

    2005-01-01

    OBJECTIVES: The association between adenoidal hypertrophy and rhinosinusitis with upper airway inflammation is increasingly recognized; however, no study has used magnetic resonance imaging (MRI) to assess the changes in adenoid size after medical treatment of rhinosinusitis. METHODS: Thirteen

  10. DOES INTRANASAL STEROIDS REDUCE THE NEED OF ADENOIDECTOMY IN ADENOID HYPERTROPHY

    Directory of Open Access Journals (Sweden)

    Sudeep Madisetti

    2017-06-01

    Full Text Available BACKGROUND Adenoidal hypertrophy is one of the common pathological condition in the paediatric population. Adenoid hypertrophy manifests as bilateral nasal obstruction, rhinorrhea, cough, snoring, hyponasal speech and sleep apnoea. At present, complications and sequelae of adenoidectomy (i.e., alteration of the immunological system, postoperative bleeding and recurrence of adenoids are object of criticism. For this reason, research was conducted to test the efficacy of topical nasal steroids in decreasing the severity of nasal symptoms and adenoidal mass. MATERIALS AND METHODS This prospective, controlled study includes 60 children between the ages of 3-12 yrs. who presented with symptoms of adenoid hypertrophy. The study group (33 subjects underwent course of antibiotic therapy (amoxicillin and potassium clavulanate/cefpodoxime proxetil/cefuroxime axetil along with mometasone furoate nasal spray 50 mcg in each nostril (100 mcg/day once daily for 6 weeks, whereas the control group (27 subjects treated symptomatically with course of antibiotic therapy and saline nasal drops. We assessed the effectiveness of intranasal corticosteroids for improving nasal airway obstruction, thus reducing the need for adenoidectomy. RESULTS We tested the efficacy of Mometasone Furoate (MF monohydrate to improve the symptom scores of patients with adenoid hypertrophy. 60 children (3-12 years old were enrolled in a prospective, controlled, clinical study. At the end of the trial, symptom scores improved significantly in the steroid group, while no significant improvements were observed in control patients. CONCLUSION Usage of nasal steroid spray is safe and well tolerated in children. Intranasal steroid therapy can be considered as a treatment option in children with adenoid hypertrophy and in patients who are not willing to undergo or are contraindicated for surgery. In case of failure of intranasal steroidal therapy, adenoidectomy remains the procedure of choice.

  11. Acquired Cystic Kidney Disease

    Science.gov (United States)

    ... Eating, Diet, & Nutrition for PKD Race, Ethnicity, & Kidney Disease Renal Artery Stenosis Renal Tubular Acidosis Simple Kidney Cysts ... kidneys to develop multiple cysts. Acquired cystic kidney disease occurs in children and adults who have chronic kidney disease (CKD) — ...

  12. Cystic Pleural Synovial Sarcoma.

    Science.gov (United States)

    Sharif, Atif; Akhtar, Tasleem; Akhtar, Mumtaz; Zia, Naeem

    2016-11-01

    Fewer than 40 cases of primary pleural synovial sarcoma have been reported so far with only 3 cases of cystic synovial sarcoma including cases originating from sites other than the pleura. Here, we present an exceedingly rare case of cystic synovial sarcoma originating from the mediastinal side of the visceral pleura in a 25-year man presenting with hemoptysis. On contrast-enhanced computed tomography (CT), cystic synovial sarcoma and cystic thymoma were difficult to be distinguished due to mediastinal location. Histopathological examination showed spindled morphology of tumor cells with hypercellularity and nuclear atypia. As these features are associated with both monophasic fibrous synovial sarcoma and type Athymoma, immunohistochemistry was performed. Adiagnosis of synovial sarcoma was confirmed by detection of CD99 and EMAand negativity of other markers. Fluorescence in situhybridization (FISH) was not done. Surgical excision was done and followed by oncology referral.

  13. Cystic hygroma: An overview

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2010-01-01

    Full Text Available Cystic hygromas are the cystic variety of lymphangioma, common locations being cervico-facial regions and axilla. Respiratory distress, recurrent infections or cosmetic reasons are the main indications of the treatment. The ideal treatment is complete surgical excision; however, there is a gradual conversion towards sclerosant therapy. This article reviews the current literature and discusses the various problems encountered during the management of these lesions.

  14. [The possibilities for the rational pharmacotherapy of adenoiditis in the children].

    Science.gov (United States)

    Karpova, E P; Kharina, D V

    The available literature data give evidence that viral infection is the main cause underlying the development of inflammatory nasopharyngeal pathology in the children. According to ICD-10, nether acute nor chronic adenoiditis should be considered as a self-consistent nosological entity. Acute adenoiditis is usually regarded as a form of acute nasopharyngitis (J02) or acute respiratory viral infection (J06.9) whereas chronic adenoiditis is commonly referred to as representing other chronic diseases of the tonsils and adenoids (J 35.8). The reactive changes in the nasopharyngeal tonsils begin to be manifested on days 3-5 after the onset of acute respiratory viral infection; thereafter, they persist and gradually disappear within the next 2-3 weeks. In the majority of the cases, acute adenoiditis is actually a physiological reaction of the nasopharyngeal tonsils as the organs of regional mucosal immunity to antigenic stimulation. There is no universally accepted opinion as regards the duration of the inflammatory process which would allow these pathological changes to be considered as turned into chronic ones. This condition is actually not a serious pathology provided it is not associated with the concomitant complications and produces no clinically significant effect on the child's quality of life. Under practical conditions, such children are most frequently treated with the use of irrigation therapy. Taking into account that otorhinolaryngologists all over the world do not consider chronic adenoiditis as an independent nosological entity but distinguish only hypertrophy of adenoid vegetations or chronic rhinosinusitis (in the presence of inflammatory changes in the nasopharynx), it appears correct to speak about chronic adenoiditis provided the clinical manifestations of the disease persist for more than 12 weeks. Based on the predominant etiological component, the viral, bacterial, and allergic forms of nasopharyngeal adenoiditis can be distinguished even though

  15. Radiologic evaluation of adenoids and tonsils in children with obstructive sleep apnea: Plain films and fluoroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Kreplick Fernbach, S.; Brouillette, T.; Riggs, T.W.; Hunt, C.E.

    1983-07-01

    Twenty-six children with obstructive sleep apnea were evaluated by lateral neck radiographs during wakefulness, and by polygraphic monitoring and upper airway fluoreoscopy during natural sleep. Children with craniofacial abnormalities, palatal surgery, and central nervous system disease were excluded from the study. Moderate or marked enlargement of tonsils and adenoids was noted on lateral neck radiographs of 18 of 26 patients. An objective measure of adenoidal enlargement, the adenoidal-nasopharyngeal ratio, correlated well with subjective judgment of adenoidal size but was not generally more useful than subjective estimation. Upper airway fluroescopy demonstrated the site and mechanism of obstruction in all patients. Because all children with moderate to marked adenotonsillar enlargement demonstrated obstruction at the adenoidal or tonsillar level on fluoroscopy, we now screen children with suspected sleep apnea with lateral airway radiographs and polysomnography. Fluoroscopy is reserved for children with mild adenotosillar enlargement, craniofacial dysplasia, prior cleft palate repair, or neuromuscular disorders. These results suggest that the pathogenesis of obstuctive sleep apnea in children involve anatomic factors which narrow the upper airway, sleep-related hypotonia of pharyngeal dilator musculature, and compensatory mechanisms to prevent or alleviate asphyxia.

  16. Radiologic evaluation of adenoids and tonsils in children with obstructive sleep apnea: Plain films and fluoroscopy

    International Nuclear Information System (INIS)

    Kreplick Fernbach, S.; Brouillette, T.; Riggs, T.W.; Hunt, C.E.

    1983-01-01

    Twenty-six children with obstructive sleep apnea were evaluated by lateral neck radiographs during wakefulness, and by polygraphic monitoring and upper airway fluoreoscopy during natural sleep. Children with craniofacial abnormalities, palatal surgery, and central nervous system disease were excluded from the study. Moderate or marked enlargement of tonsils and adenoids was noted on lateral neck radiographs of 18 of 26 patients. An objective measure of adenoidal enlargement, the adenoidal-nasopharyngeal ratio, correlated well with subjective judgment of adenoidal size but was not generally more useful than subjective estimation. Upper airway fluroescopy demonstrated the site and mechanism of obstruction in all patients. Because all children with moderate to marked adenotonsillar enlargement demonstrated obstruction at the adenoidal or tonsillar level on fluoroscopy, we now screen children with suspected sleep apnea with lateral airway radiographs and polysomnography. Fluoroscopy is reserved for children with mild adenotosillar enlargement, craniofacial dysplasia, prior cleft palate repair, or neuromuscular disorders. These results suggest that the pathogenesis of obstuctive sleep apnea in children involve anatomic factors which narrow the upper airway, sleep-related hypotonia of pharyngeal dilator musculature, and compensatory mechanisms to prevent or alleviate asphyxia. (orig.)

  17. Does helicobacter pylori have a role in the etiology of adenoid hypertrophy?

    Science.gov (United States)

    Aydın, Emine; Aydoğan, Filiz; Taştan, Eren; Arslan, Necmi; Karaca, Gökhan

    2014-01-01

    To investigate whether there is any association between nasopharyngeal reflux and adenoid hypertrophy in children by using 24-h pH monitoring with dual probe and to determine whether Helicobacter pylori simply colonises in adenoid tissue or it is present there temporarily due to extraesophageal reflux. A prospective study at a tertiary referral center. Thirty-two patients who underwent adenoidectomy, aged ranged between 4 and 13 were included. All children with adenoid hypertrophy underwent 24-h pH monitoring with a dual probe. Proximal probe was placed in the nasopharynx. The presence of nasopharyngeal reflux and gastroesophageal reflux were investigated by 24-h pH monitoring. The presence of H. pylori was investigated in adenoidectomy samples by HP-fast test. Of the 32 patients who underwent adenoidectomy, 5 had nasopharyngeal reflux positivity while 27 patients did not show nasopharyngeal reflux positivity with pH monitorisation. Helicobacter pylori could not be detected in 5 nasopharyngeal reflux positive children while 3 of 27 nasopharyngeal reflux negative children showed H. pylori positivity, one of them in the mucosa and others in the core. This study demonstrated the high incidence of nasopharyngeal reflux and gastroesophageal reflux in adenoid hypertrophy and the possible colonisation of H. pylori in the adenoid tissue. This may change the assesment of children with adenotonsillar hypertrophy in near future. However, more placebo controlled and double blind studies and larger series are still needed to support this hypothesis.

  18. The Role of Adenoid Mast Cells in the Pathogenesis of Secretory Otitis Media

    Directory of Open Access Journals (Sweden)

    M. Faruk Oktay

    2007-01-01

    Full Text Available To investigate the possible role of adenoid mast cells in the etiology of secretory otitis media. Between 2001-2002, 25 patients with chronic adenoitis and chronic secretory otitis media and 25 patients with isolated adenoid hypertrophy were included to the study. Adenoidectomy performed to the all patients under general anesthesia. Adenoidectomy specimens were evaluated under the light microscopy and the number of mast cells were calculated for each patient. The number of mast cells were compared between two groups. The number of mast cells were between 4-84 in the otitis media with effusion and adenoid hypertrophy group (median:52, however it was between 2-63 (median: 23 in the isolated adenoid hypertrophy group. When comparing the two groups using Mann-Withney U test, the number of mast cells found to be significantly higher in the chronic secretory otitis media group (p<0.001.Based on our findings there is a relationship between increased adenoid mast cells and otitis media with effusion and these cells may have a possible role in the etiology of chronic secretory otitis media.

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

    Directory of Open Access Journals (Sweden)

    Yogita Dixit

    2016-01-01

    Full Text Available 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.

  20. Alveolar inflammation in cystic fibrosis

    DEFF Research Database (Denmark)

    Ulrich, Martina; Worlitzsch, Dieter; Viglio, Simona

    2010-01-01

    BACKGROUND: In infected lungs of the cystic fibrosis (CF) patients, opportunistic pathogens and mutated cystic fibrosis transmembrane conductance regulator protein (CFTR) contribute to chronic airway inflammation that is characterized by neutrophil/macrophage infiltration, cytokine release...

  1. Ultrasound Imaging of Cystic Nephroma

    Directory of Open Access Journals (Sweden)

    Federico Greco

    2017-07-01

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

  2. Multiple cystic lung disease

    Directory of Open Access Journals (Sweden)

    Flavia Angélica Ferreira Francisco

    2015-12-01

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

  3. Cystic Fibrosis: Diet and Nutrition

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Cystic Fibrosis: Diet and Nutrition KidsHealth / For Teens / Cystic Fibrosis: ... Enzyme Supplements Beating the Frustration Print What Is Cystic Fibrosis? At lunch, Lindsay often gets bored with having ...

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

    Directory of Open Access Journals (Sweden)

    Jahanshah Salehinejad

    2016-01-01

    Full Text Available 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.

  5. Lactobacillus rhamnosus GG in adenoid tissue: Double-blind, placebo-controlled, randomized clinical trial.

    Science.gov (United States)

    Swanljung, Elisa; Tapiovaara, Laura; Lehtoranta, Liisa; Mäkivuokko, Harri; Roivainen, Merja; Korpela, Riitta; Pitkäranta, Anne

    2015-08-01

    Lactobacillus rhamnosus GG (L.GG) was present in all adenoids of children receiving the L. GG product. However, since L.GG was also found from the placebo group, one cannot confirm its effect on the occurrence of rhinovirus (RV) or enterovirus (EV). The present study was conducted to determine whether a 3-week oral consumption of L.GG would lead to presence of the probiotic in adenoid tissue. Furthermore, nasopharyngeal RV and EV findings and symptom data were investigated. The tissue samples were collected from 40 children aged 1-5 years about to undergo adenotomy due to recurrent acute/secretory otitis media, chronic rhinitis, or recurrent sinusitis after a 3-week daily consumption of L.GG (n = 20) or placebo (n = 20). Strain-specific real-time PCR was used to detect RV, EV, and L.GG in adenoid tissue. L.GG was recovered in the adenoid sample in 100% of children in the L.GG group and in 76% in the placebo group (p = 0.07). Both RV and EV were found in 31% of children in the L.GG group and in 18% of children in the placebo group (p = 0.67). The majority of the positive samples were positive for both RV and EV. Study diaries showed no differences in symptoms between the groups.

  6. Intrapleural rupture of a cystic thymoma.

    Science.gov (United States)

    Haniuda, M; Numanami, H; Kondo, R; Kurai, M; Takashima, S; Amano, J

    2000-10-01

    Although cystic degeneration of a thymoma is not uncommon, rupture of a cystic thymoma is rare. The authors report a patient with sudden chest pain and dyspnea due to rupture of a cystic thymoma into the right pleural space.

  7. THE PRESENCE OF ADENOID VEGETATIONS AND NASAL SPEECH, AND HEARING LOSS IN RELATION TO SECRETORY OTITIS MEDIA

    Directory of Open Access Journals (Sweden)

    Gabriela KOPACHEVA

    2004-12-01

    Full Text Available This study presents the treatment of 68 children with secretory otitis media. Children underwent adenoid vegetations, nasal speech, conductive hearing loss, ventilation disturbance in Eustachian tube. In all children adenoidectomy was indicated.38 boys and 30 girls at the age of 3-17 were divided in two main groups: * 29 children without hypertrophic (enlarged adenoids, * 39 children with enlarged (hypertrophic adenoids.The surgical treatment included insertion of ventilation tubes and adenoidectomy where there where hypertrophic adenoids.Clinical material was analyzed according to hearing threshold, hearing level, middle ear condition estimated by pure tone audiometry and tympanometry before and after treatment. Data concerning both groups were compared.The results indicated that adenoidectomy combined with the ventilation tubes facilitates secretory otitis media heeling as well as decrease of hearing impairments. That enables prompt restoration of the hearing function as an important precondition for development of the language, social, emotional and academic development of children.

  8. [News in cystic fibrosis].

    Science.gov (United States)

    Delaisi, B

    2013-08-01

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

  9. Carcinoma adenóide cístico: relato de caso = Adenoid cystic carcinoma: case report

    Directory of Open Access Journals (Sweden)

    Palmeiro, Mariana Reuter

    2005-01-01

    Full Text Available O carcinoma adenóide cístico é uma neoplasia maligna rara de crescimento lento, caracterizado prognóstico reservado, devido a sua agressividade e grande potencial recidivante. A lesão é mais prevalente em pacientes na faixa etária entre 50 e 70 anos, sendo incomum em jovens. O artigo relata um caso de carcinoma adenóide cístico de glândulas salivares menores localizado no palato duro em pacientes com 26 ano, do sexo masculino que foi encaminhado para tratamento no Serviço de Cirurgia de Cabeça e Pescoço

  10. Characterization and localization of c-kit and epidermal growth factor receptor in different patterns of adenoid cystic carcinoma

    Directory of Open Access Journals (Sweden)

    Anshi Jain

    2016-01-01

    Conclusions: C-kit and EGFR biomarkers can be used to enhance the characterization of ACC and to determine the localization of dual cell population which could suggest the dual origin of ACC and provides evidence for the new therapeutic strategy in ACC.

  11. Discordant correlation of breast adenoid cystic carcinoma on imaging and pathology: A case report and literature review on surgical management

    Directory of Open Access Journals (Sweden)

    Zhiyan Yan

    2018-01-01

    Conclusion: ACC can be extensively infiltrative and present much larger than its radiological size, as reported in our case. Use of better imaging modalities judiciously, in these cases, are needed to more accurately predict the true pathological size of ACC to prevent inadequate surgery.

  12. Comparison of the surface and core bacteria in tonsillar and adenoid tissue with Beta-lactamase production.

    Science.gov (United States)

    Taylan, Işıl; Ozcan, Ibrahim; Mumcuoğlu, Ipek; Baran, Irmak; Murat Özcan, K; Akdoğan, Ozgür; Selcuk, Adin; Balaban, Neriman; Dere, Hüseyin

    2011-07-01

    Adenoidectomy and tonsillectomy, indicated for children with recurrent or persistent symptoms of infection or hypertrophy, are among the most frequent operations performed in children. This study was carried out for investigating the microbial flora of the tonsils and adenoids regarding to core and surface microorganisms and also pathogen microrganisms' beta-lactamase production rate. Cultures were taken from the core and surface of tonsils and adenoids of the 91 patients at the time of the surgery for tonsillectomy and adenoidectomy. Aerobic and anaerobic cultures were inoculated and identified. Beta-lactamase production was detected also. The most frequently isolated aerobic microorganisms were Streptococcus viridans and Neisseria spp. The number of the microorganisms isolated from the tonsil core compared to the surface of the tonsils was found statistically insignificant (P > 0.05). The number of the adenoid surface aerobic microorganisms was found higher from the adenoid core (P  0.05). The togetherness of Staphylococcus aureus and other beta-lactamase producing bacteria was found statistically significant (P < 0.05). This study demonstrates that there is polymicrobial aerobic-anaerobic flora in both adenoids and tonsils. There was a close relationship between the bacteriology of the tonsil and adenoid flora. Staphylococcus aureus and and other beta-lactamase producing bacteria may be responsible for treatment failures in patients with tonsillitis.

  13. [Cystic fibrosis in 2008].

    Science.gov (United States)

    Durieu, I; Josserand, R Nove

    2008-11-01

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

  14. Childhood abdominal cystic lymphangioma

    Energy Technology Data Exchange (ETDEWEB)

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

    2002-02-01

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

  15. Imaging from cystic fibrosis

    International Nuclear Information System (INIS)

    Schmidt, H.; Posselt, H.G.

    2008-01-01

    Cystic fibrosis (CF) is the most frequent metabolic disorder with autosomal recessive inheritance in the Caucasian population. The gene defect is located on the long arm of chromosome 7. In Germany today, the actual median survival is 37 years. The genetic defect caused by chloride anion disturbances affects multiple body systems but the morbidity and mortality is due to lung disease. The secretion of highly viscous mucus promotes viral and bacterial pulmonary infections leading to airway obstruction and consecutive destruction of the lung parenchyma. This article will review and discuss both the clinical aspects of the disease and the diagnostic methods, referring in particular to new imaging strategies. (orig.)

  16. Does adenoid hypertrophy affect disease severity in children with allergic rhinitis?

    Science.gov (United States)

    Dogru, Mahmut; Evcimik, Muhammed Fatih; Calim, Omer Faruk

    2017-01-01

    Our study aims to evaluate the presence of adenoid hypertrophy (AH) in children with allergic rhinitis (AR) and the association of AH disease severity and clinical laboratory finding from retrospective, cross-sectional, and nonrandomized trial. The study included 566 children being treated and followed up for allergic rhinitis. Skin prick test for the same allergens was performed for all patients. Adenoid tissue was analyzed by an ENT specialist and the diagnosis was confirmed based on the patient history, endoscopic physical examination and radiology. Adenoid hypertrophy was detected in 118 (21.2 %) of the children with AR. Children with and without AH did not differ statistically and significantly by gender, age, presence of atopy in the family, exposure to smoke (p > 0.05). Comparison of the groups for AR duration demonstrated significantly higher frequency of persistent rhinitis in patients with AH (p  0.05). On the other hand, sensitivity to Alternaria alternata was significantly more frequent in AR patients with AH (p = 0.032). The presence of AH increased the severity of the disease and prolongs disease duration. There was a negative relationship between AH and asthma in children with AR. AH is more common among children with mold sensitivity. AH should be considered and investigated particularly in non-asthmatic children with pronounced nasal congestion and A. alternata sensitivity.

  17. Calprotectin in cystic fibrosis.

    Science.gov (United States)

    Rumman, Nisreen; Sultan, Mutaz; El-Chammas, Khalil; Goh, Vi; Salzman, Nita; Quintero, Diana; Werlin, Steven

    2014-05-29

    There is increasing evidence that intestinal inflammation plays a major role in gastrointestinal symptoms in cystic fibrosis (CF). Fecal calprotectin is a marker that is elevated in several gastrointestinal inflammatory diseases, but little is known about its value in CF. We aimed to look for associations of elevated fecal calprotectin among CF patients and whether its level correlates with the clinical manifestations of CF. A single stool specimen was collected from 62 patients with CF. Fecal calprotectin was measured using the commercially available ELISA kits (PhiCal™ test). Clinical data were collected from patients' records and CF registry. There were no significant differences between CF patients with normal and abnormal fecal calprotectin levels. However, patients who were not receiving inhaled antibiotics had higher fecal calprotectin levels than those who were. Elevated fecal calprotectin may not accurately predict intestinal inflammation in CF. However, the fact that it was elevated in both pancreatic sufficient and insufficient groups supports the concept of "cystic fibrosis enteropathy" regardless of the pancreatic status.

  18. Gastrointestinal Manifestations of Cystic Fibrosis

    Science.gov (United States)

    2016-01-01

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

  19. Molecular Diagnosis of Cystic Fibrosis.

    Science.gov (United States)

    Deignan, Joshua L; Grody, Wayne W

    2016-01-01

    This unit describes a recommended approach to identifying causal genetic variants in an individual suspected of having cystic fibrosis. An introduction to the genetics and clinical presentation of cystic fibrosis is initially presented, followed by a description of the two main strategies used in the molecular diagnosis of cystic fibrosis: (1) an initial targeted variant panel used to detect only the most common cystic fibrosis-causing variants in the CFTR gene, and (2) sequencing of the entire coding region of the CFTR gene to detect additional rare causal CFTR variants. Finally, the unit concludes with a discussion regarding the analytic and clinical validity of these approaches. Copyright © 2016 John Wiley & Sons, Inc.

  20. [Cystic lymphangioma of the scrotum].

    Science.gov (United States)

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

    1980-01-01

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

  1. Profile of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Mona M. El-Falaki

    2014-09-01

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

  2. Breakdown in Breathing: The Complexities of Cystic Fibrosis

    Science.gov (United States)

    ... Healthier Lungs in Kids Wise Choices Living with Cystic Fibrosis In between checkups, practice good self-care and ... Links What Is Cystic Fibrosis? Learning About Cystic Fibrosis NIH Cystic Fibrosis Fact Sheet Genetic and Rare Diseases Information ...

  3. How we do it: Transoral suction diathermy adenoid ablation under direct vision using a 45 degree endoscope.

    Science.gov (United States)

    Lo, S; Rowe-Jones, J

    2006-10-01

    Keypoints * Adenoid ablation using suction diathermy is associated with a number of difficulties, mainly associated with the use of the mirror. Transoral and transnasal 0 degree endoscopes have also been utilised but again have limitations. We describe a technique that overcomes the above problems. * A prospective case series of patients undergoing suction diathermy adenoidectomy under direct vision using a transoral 45 degree endoscope connected to a monitor was conducted, performed by surgical trainees and under direct supervision of the consultant trainer (J.R.-J.). * Intra-operatively, trainees had to demonstrate to the trainer the appropriate anatomy, completed adenoid ablation, and haemostasis. * Fifty-six cases have been performed. In every case, it was possible for the trainer to monitor the trainee's technique throughout the entire procedure. No complications have been reported. * We describe a modified technique which overcomes the disadvantages previously encountered by conventional suction diathermy adenoid ablation.

  4. Imaging features of unusual intracranial cystic meningiomas

    International Nuclear Information System (INIS)

    Demir, M.K.; Musluman, M.; Kilicoglu, G.; Hakan, T.; Aker, F.V.

    2007-01-01

    To describe the imaging features of unusual intracranial cystic meningiomas in infants and adults. We retrospectively reviewed the magnetic resonance and computed tomography findings for 2 female patients and 3 male patients, ranging in age from 1 to 73 years (median 41 years), with histopathologically proven cystic meningioma. Although cystic meningiomas usually appear as solid and cystic masses, they may present as a mainly multicystic lesion. The wall of a cystic part of the meningioma may include both enhancing and unenhancing areas at imaging. The cystic portion of a meningioma is hypointense on diffusion-weighted images and markedly hyperintense on corresponding apparent diffusion coefficient maps. (author)

  5. Cystic thymic diseases: CT manifestations

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-09-15

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

  6. Computed tomography of cystic pancreatic fibrosis

    International Nuclear Information System (INIS)

    Brachlow, M.; Zaunbauer, W.; Haertel, M.

    1984-01-01

    The computer tomographic appearances of atrophic and lipomatous degeneration of the pancreas in cystic pancreatic fibrosis are described. CT exploration of the pancreas in recommended, particularly in differential diagnostic aspects of cystic fibrosis. (orig.) [de

  7. Cystic Fibrosis (CF) Respiratory Screen: Sputum

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Cystic Fibrosis (CF) Respiratory Screen: Sputum KidsHealth / For Parents / Cystic Fibrosis (CF) Respiratory Screen: Sputum What's in this article? ...

  8. Human cystic echinococcosis in South Africa

    NARCIS (Netherlands)

    Mogoye, Benjamin; Menezes, Colin N.; Grobusch, Martin P.; Wahlers, Kerstin; Frean, John

    2012-01-01

    Cystic echinococcosis (CE) is caused by the tapeworm, Echinococcus granulosus. The tapeworms resides in the small intestines of canids and the lifecycle involves both intermediate and definitive hosts. Humans are accidental intermediate hosts. Cystic echinococcosis is an economically important

  9. Cystic Lesions in Autoimmune Pancreatitis

    Directory of Open Access Journals (Sweden)

    Macarena Gompertz

    2015-11-01

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

  10. Neurofibromas as bilateral cystic chest wall swellings.

    African Journals Online (AJOL)

    clinical entity in our centre. This rare entity should be borne in mind when considering the differential diagnosis of benign cystic chest wall tumours. Key words: neurofibromatosis, cystic swelling, posterior ... We are reporting a single case of bilat- eral cystic degenerative changes in neurofibromas that presented clinically like ...

  11. Non-cystic fibrosis bronchiectasis.

    Science.gov (United States)

    Neves, Paulo C; Guerra, Miguel; Ponce, Paulo; Miranda, José; Vouga, Luís

    2011-12-01

    Bronchiectasis is characterized by irreversible widening of the medium-sized airways, with inflammation, chronic bacterial infection and destruction of the bronchial walls. Exercise or inspiratory muscle training may improve quality of life and exercise endurance in people with non-cystic fibrosis bronchiectasis. Prolonged-use antibiotics improve clinical response rates, but may not reduce exacerbation rates or lung function. Surgery is often considered for people with extreme damage to one or two lobes of the lung who are at risk for severe infection or bleeding. In this review, the authors will focus on non-cystic fibrosis bronchiectasis, pointing out the differences in management when compared with the cystic fibrosis context, with special emphasis on surgical management.

  12. Cystic fibrosis in adults

    Directory of Open Access Journals (Sweden)

    C. Damas

    2007-05-01

    Full Text Available The authors reviewed adult cystic fibrosis patients followed in the Pulmonology Unit from 1994-2004 (n = 8, five female and three male, aged 20-34 years old (median = 27 years. Patients were diagnosed at 18 months - 31 years old by sweat testing (positive in six patients and genotyping (four patients homozygous for ΔF508 mutation.Respiratory involvement was characterised by sinusitis and bronchiectasis. Pulmonary involvement was accompanied by functional abnormalities and gas exchange impairment in the majority of the patients. Bronchial tree was colonised permanently in five patients: Pseudomonas aeruginosa in four and Staphilococcus aureus in four (three patients affected by both agents simultaneously.The main causes of exacerbation were respiratory infections and haemoptysis.Non-respiratory involvement was variable. Four patients had digestive involvement (one with hepatic cirrhosis, one had renal failure and only one had a sperm count to document infertility. Four patients had osteopaenia.Treatment included chest physiotherapy, bronchodilators, dornase alfa, mucolytics, digestive enzymes, vitamins, antibiotics and oxygen therapy.At review, one had left follow-up, one had died, one was awaiting lung transplant and the others evidenced no difference in clinical characteristics.In this group of patients the severity of the pulmonary disease was not related to a late diagnosis. It can be explained by the diversity of cystic fibrosis presentation in adults Resumo: Os autores efectuaram uma revisão de doentes adultos com fibrose quística (FQ, seguidos na consulta de Pneumologia no período de 1994-2004 (n = 8: cinco mulheres e três homens, com idades compreendidas entre 20 e 34 anos (mediana  =  27 anos, cuja idade de diagnóstico variou entre os 18 meses e os 31 anos.O diagnóstico foi obtido por prova de suor (positiva em seis doentes e estudo genético (homozigotia para a mutação ΔF508 em

  13. Cystic echinococcosis of the liver

    DEFF Research Database (Denmark)

    Branci, Sonia; Ewertsen, Caroline; Thybo, Søren

    2012-01-01

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

  14. Lactate in cystic fibrosis sputum

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  15. Meconium ileus in Cystic Fibrosis

    NARCIS (Netherlands)

    Sathe, Meghana; Houwen, Roderick

    2017-01-01

    Meconium ileus (MI) is often the first manifestation of cystic fibrosis (CF) and occurs in approximately 20% of patients diagnosed with CF. This article reviews the pathophysiology of MI and its clinical presentation. It focuses on the medical and surgical management emphasizing the importance of

  16. Lung transplantation for cystic fibrosis

    NARCIS (Netherlands)

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

    2009-01-01

    Lung transplantation is a complex, high-risk, potentially life-saving therapy for the end-stage lung disease of cystic fibrosis (CF). The decision to pursue transplantation involves comparing the likelihood of survival with and without transplantation as well as assessing the effect of wait-listing

  17. [Therapeutic update in cystic fibrosis].

    Science.gov (United States)

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

    2014-06-01

    We present the recent therapeutic advances in the cystic fibrosis care. It concerns improvements in symptomatic treatment with the development of dry powder inhaled antibiotics that improved quality of life, and innovative treatments namely the modulators of the cystic fibrosis transmembrane protein conductance regulator (CFTR), molecules which act specifically at the level of the defective mechanisms implied in the disease. The life expectancy of cystic fibrosis patients born after 2000, is estimated now to be about 50 years. This improvement of survival was obtained with the organization of the care within the specialized centers for cystic fibrosis (Centre de ressource et de compétences de la mucoviscidose) and remains still based on heavy symptomatic treatments. Dry powder inhaled antibiotics constitute a significant time saving for patients to whom all the care can achieve two hours daily. Since 2012, the modulators of CFTR, molecules allowing a pharmacological approach targeted according to the type of the mutations, allows a more specific approach of the disease. Ivacaftor (Kalydeco(®)) which potentialises the function of the CFTR protein expressed on the cellular surface is now available for patients with the G551D mutation. Lumacaftor is going to be tested in association with ivacaftor in patients with the F508del mutation, that is present in at least 75% of the patients. The ataluren which allows the production of a functional protein CFTR in patients with a no sense mutation is the third representing of this new therapeutic class. We presently have numerous symptomatic treatments for the cystic fibrosis care. The development of CFTR modulators, today available to a restricted number of patients treated with ivacaftor represents a very promising therapeutic avenue. It will represent probably the first step to a personalized treatment according to CFTR genotype. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by

  18. Cystic swellings of scrotum: Management

    Directory of Open Access Journals (Sweden)

    Subith Kumar K, Sasikumar J, Seetharamaiah T, Ajay Kumar B, Venugopalacharyulu N CH

    2014-04-01

    Full Text Available The cystic swellings of scrotum are one among the commonest clinical entities faced by a surgeon in day to day practice and a cause of concern to the patient more with his fertility. Presenting with varied etiology they can represent a wide range of medical issues. Gold standard for the management of such cystic swellings of scrotum continues to be surgical extirpation of the lesion. Objective: To identify the cause, mode of presentation, various modalities of treatment and outcome of these with their complications. Method: A total of 170 cases of cystic swellings of scrotum fulfilling the methodology criteria were subjected to the preformatted study. Diagnosis was mostly by clinical examination and supported by ultrasonography. All cases were treated surgically with the appropriate surgical procedure. Results: Maximum patients were in the age group of 31-50 years and presented with scrotal swelling (59% and more commonly affecting the right side. The commonest cause for cystic swelling of the scrotum was primary vaginal hydrocele (55%. Surgical procedure using Lords Plication was found to be simple, effective and associated with minimum post operative complications; the other conventional techniques like Partial/sub-total excision of sac, everson of sac were associated with more complications like haematoma, scrotal edema and infection. Majority of patients were discharged on 7th Post-operative day. Conclusion: The present study, primary vaginal hydrocele was the commonest cystic swelling of scrotum and treated surgically showed good results. Lord’s procedure was associated with the less post-operative complications, minimal tissue handling and good haemostatic control.

  19. Cystic Hygroma in an Adult; a Case Report | Veeraraghavan ...

    African Journals Online (AJOL)

    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 ...

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

    NARCIS (Netherlands)

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

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

  1. MRI in mucoviscidosis (cystic fibrosis)

    International Nuclear Information System (INIS)

    Eichinger, M.; Puderbach, M.; Kauczor, H.-U.; Heussel, C.-P.

    2006-01-01

    Cystic fibrosis (CF) is a multi-systemic disease with major impact on the lungs. Pulmonary manifestation is crucial for the prognosis and life expectancy of patients. Imaging modalities and lung function tests reflect the pulmonary status in these patients. The standard imaging modality for diagnosis and follow-up of pulmonary changes is chest x-ray. The gold standard for the detection of parenchymal lung changes remains high resolution computed tomography (HRCT), but this is not used routinely for CF-patients due to radiation exposure. Magnetic resonance imaging (MRI) used to be of no importance in monitoring cystic fibrosis lung disease, as shown in studies from the 1980s and early 1990s. The continuing improvement of MRI techniques, however, has allowed for an adequate application of this non-radiation method in diagnosing the major pulmonary findings in CF, in addition to the assessment of lung function. (orig.) [de

  2. Posttraumatic Cranial Cystic Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Arata Tomiyama

    2011-01-01

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

  3. Prenatal ultrasonographic findings of renal cystic diseases of the fetus

    International Nuclear Information System (INIS)

    Cho, Jeong Yeon; Song, Mi Jin; Lee, Young Ho; Cho, Byung Jae; Hong, Sung Ran

    2002-01-01

    The renal cystic diseases of the fetus consist of variable types of multicystic dysplastic kidney, autosomal recessive polycystic kidney, autosomal dominant polycystic kidney, obstructive cystic renal dysplasia, simple renal cyst, medullary cystic disease, and various syndromes with associated cystic renal diseases. Prenatal US findings of renal cystic diseases were compared and analyzed with the pathologic and postnatal US findings to establish the differential points of renal cystic diseases.

  4. A case of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Maria Alice Monti

    2009-09-01

    Full Text Available As the expected survival improves for patients with cystic fibrosis (CF, there is a growing population of adults with this disease. We describe a case of a 33-year-old woman with CF presenting with recurrent pancreatitis, malnutrition, borderline sweat test and respiratory diseases. The case report underlines the importance of diagnosis and management of CF in adults, and the important role played by the Family Physician in developing an adult care program.

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

    DEFF Research Database (Denmark)

    Koch, Lene; Stemerding, Dirk

    1994-01-01

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

  6. Passive exposure to smoke results in defective interferon-gamma production by adenoids in children with recurrent respiratory infections.

    Science.gov (United States)

    Marseglia, Gian Luigi; Avanzini, Maria Antonietta; Caimmi, Silvia; Caimmi, Davide; Marseglia, Alessia; Valsecchi, Chiara; Poddighe, Dimitri; Ciprandi, Giorgio; Pagella, Fabio; Klersy, Catherine; Castellazzi, Anna Maria

    2009-08-01

    There is evidence that exposure to passive smoke is associated with an increased susceptibility to respiratory infections. Indeed, cigarette smoke extracts may interfere with the immune system, even though the precise mechanism has not been fully understood yet. Recurrent respiratory infections may be sustained by a defective immune response. The aim of the present study was to evaluate whether, in a cohort of children presenting both with recurrent respiratory infections and with a history of exposure to tobacco smoke, these factors were related to a lower local production of interferon-gamma (IFN-gamma) when compared to a similar non-exposed population. The study group included 128 children undergoing adenoidectomy, presenting with more than three respiratory infections per year, independently of exposure to passive smoke at home. The intracellular cytokine profile of lymphocyte subsets in adenoids was evaluated by flow cytometry analysis. Children exposed to tobacco smoke suffered from a significantly greater number of respiratory infections and had a lower percentage of IFN-gamma-producing CD8+ cells in adenoids than non-exposed children, while other T-cell subsets were not affected. The effect of smoke exposure seems to be specific to the IFN-gamma-producing CD8+ cells in adenoids and may contribute to the increased susceptibility to the recurrence of respiratory infections.

  7. Inhaled corticosteroids for cystic fibrosis.

    Science.gov (United States)

    Balfour-Lynn, Ian M; Welch, Karen

    2016-08-23

    Reduction of lung inflammation is one of the goals of cystic fibrosis therapy. Inhaled corticosteroids are often used to treat children and adults with cystic fibrosis. The rationale for this is their potential to reduce lung damage arising from inflammation, as well as their effect on symptomatic wheezing. It is important to establish the current level of evidence for the risks and benefits of inhaled corticosteroids, especially in the light of their known adverse effects on growth. This is an update of a previously published review. To assess the effectiveness of taking regular inhaled corticosteroids, compared to not taking them, in children and adults with cystic fibrosis. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. We requested information from pharmaceutical companies manufacturing inhaled corticosteroids and authors of identified trials.Date of most recent search of the Group's Trials Register: 15 August 2016. Randomised or quasi-randomised trials, published and unpublished, comparing inhaled corticosteroids to placebo or standard treatment in individuals with cystic fibrosis. Two independent authors assessed methodological quality and risk of bias in trials using established criteria and extracted data using standard pro formas. The searches identified 34 citations, of which 26 (representing 13 trials) were eligible for inclusion. These 13 trials reported the use of inhaled corticosteroids in 506 people with cystic fibrosis aged between six and 55 years. One was a withdrawal trial in individuals who were already taking inhaled corticosteroids. Methodological quality and risk of bias were difficult to assess from published information. Many of the risk of bias judgements were unclear due to a lack of available information. Only two trials specified how

  8. Adenoid and tonsil surgeries in children: How relevant is pre-operative blood grouping and cross-matching?

    Directory of Open Access Journals (Sweden)

    Lucky Onotai

    2013-01-01

    Full Text Available Background: As a part of pre-operative evaluation, several otolaryngologists group and cross-match blood routinely for children undergoing adenoid and tonsil surgeries. This practice has generated several debates either in support or against this practice. The aim of this study is to critically evaluate the incidence of post-tonsillectomy (with or without adenoidectomy bleeding and blood transfusions in otherwise healthy children with adenoid/tonsil pathologies conducted in the University of Port Harcourt Teaching Hospital (UPTH. Patients and Methods: A descriptive retrospective study of children who underwent adenoid and tonsil surgeries in the Department of Ear, Nose and Throat (ENT surgery of UPTH from January 2003 to December 2012. Children with family history of bleeding disorders and derangement of clotting profile as well as different co-morbidity like sickle cell disease were excluded from this study. The patients′ data were retrieved from the registers of ENT out-patient clinics, theatre registers and patients case notes. Demographic data, indications for surgery, preoperative investigations, complications and management outcomes were recorded and analyzed. Results: Out of 145 children that had adenoid and tonsil surgeries; only 100 met the criteria for this study. The study subjects included 65 males and 35 females (male: female ratio 1.9:1 belonging to 0-16 years age group (mean age: 3.46 ± 2.82 years. The age group of 3-5 years had the highest (n = 40, 40% number of surgeries. Adenotonsillectomy was the commonest (n = 85, 85% surgery performed on patients who had obstructive sleep apnea (OSA. The commonest (n = 6, 6% complication was haemorrhage, and only few (n = 3, 3% patients had blood transfusion. However, mortality was recorded in some (n = 3, 3% patients. Conclusion: This study confirms that the incidence of post adenoidectomy/tonsillectomy bleeding in otherwise healthy children is low and rarely requires blood transfusion

  9. Unusual growth rate during cystic echinococcosis.

    Science.gov (United States)

    Valour, Florent; Khenifer, Safia; Della-Schiava, Nellie; Cotte, Eddy; Guibert, Benoit; Wallon, Martine; Durupt, Stéphane; Durieu, Isabelle

    2014-04-01

    Cystic echinococcosis is a world wild zoonosis caused by Echinococcus granulosus, leading to hepatic and lung cysts with a usually slight growth rate. We report the case of an 82year-old Algerian woman with hepatic and lung cystic echinococcosis with a 10-fold size increase in 6months. Copyright © 2013. Published by Elsevier Ireland Ltd.

  10. Outcome in cystic fibrosis liver disease.

    LENUS (Irish Health Repository)

    Rowland, Marion

    2011-01-01

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

  11. Laparoscopic cholecystectomy in adult cystic fibrosis.

    LENUS (Irish Health Repository)

    McGrath, D S

    2012-02-03

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

  12. Self-management education for cystic fibrosis.

    LENUS (Irish Health Repository)

    Savage, Eileen

    2011-01-01

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

  13. European Cystic Fibrosis Society Standards of Care

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  14. Significance of surgical management for cystic prolactinoma.

    Science.gov (United States)

    Ogiwara, Toshihiro; Horiuchi, Tetsuyoshi; Nagm, Alhusain; Goto, Tetsuya; Hongo, Kazuhiro

    2017-04-01

    It is generally accepted that dopamine agonists (DA) represent the first-line treatment for most patients with prolactinoma, and patients become candidates for surgical intervention when DA is contraindicated. Surgical indication for cystic prolactinoma remains controversial. This study was performed to investigate the significance of surgery for cystic prolactinoma. A total of 28 patients that underwent transsphenoidal resection of prolactinoma between February 2004 and May 2016 were reviewed. Five consecutive patients with cystic prolactinoma were included in this study. Our surgical strategy for cystic prolactinoma was categorized as follows: first, when the purpose of surgical resection was normalization of the prolactin level, aggressive resection was performed; second, when volume reduction was essential to relieve the visual symptoms and headache, internal decompression was performed followed by DA therapy. The clinical outcomes were analyzed accordingly. All cystic prolactinoma were resected via the transsphenoidal approach without any complications, and all symptoms including visual impairment and hypogonadal activity were finally relieved combined with medication. Surgery for cystic prolactinoma could be a better option. Transsphenoidal surgery is relatively safe to remove the cystic prolactinoma, additionally it can normalize the prolactine level and achieve adequate and rapid decompression of optic chiasm. The risk of transsphenoidal surgery is highly dependent on the skill of the surgeon and treatment decision for cystic prolactinoma needs to be individualized for each patient.

  15. [Diagnosis and surgical treatment of cystic granuloma].

    Science.gov (United States)

    Piazza Roxas, M; Piazza Roxas, I

    1989-05-01

    The survival therapy of cystic lesion with concomitant cystotomy and apicectomy permits the healing of the inflammatory process and the total restitution of the affected tissues. The diagnostic phase is fundamental, with identification of the cystic lesion for which removal is elective.

  16. Cystic Hydatid Disease in Southern Sudan

    African Journals Online (AJOL)

    Objective: To document the experience with cystic hydatid disease at a teaching hospital in. South Sudan. Design: A prospective analysis of clinical data collected from patients admitted and treated for cystic hydatid disease between August 2004 and August 2007. setting: Juba Teaching Hospital. Patients: One hundred and ...

  17. Pulmonary complications of cystic fibrosis

    International Nuclear Information System (INIS)

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

    2014-01-01

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

  18. Liver manifestations of cystic fibrosis

    International Nuclear Information System (INIS)

    Akata, Deniz; Akhan, Okan

    2007-01-01

    Chronic liver disease is one of the major complications of cystic fibrosis (CF). Significant liver disease is seen in 13-25% of children with CF. Improved life expectancy and prolonged follow-up have favored better characterization of the hepatic manifestations of CF and allowed direct observation of an increasing number of liver-related events. Liver disease typically develops in the first decade of life, with the incidence dropping rapidly after the age of 10 years. The wide spectrum of liver disease ranging from asymptomatic gallbladder abnormalities to biliary cirrhosis will be reviewed in this article

  19. Rectal prolapse and cystic fibrosis.

    Science.gov (United States)

    El-Chammas, Khalil I; Rumman, Nisreen; Goh, Vi Lier; Quintero, Diana; Goday, Praveen S

    2015-01-01

    Screening for cystic fibrosis (CF) is suggested in patients with rectal prolapse (RP). Little is known about the association between CF and RP in the era of newborn screening for CF. Our retrospective review showed that 3.6% of patients with RP had CF, and 3.5% of patients with CF had RP. No demographic or clinical factors appear to predict the likelihood of RP in patients with CF. Sweat chloride testing for patients with RP has a low yield in the era of newborn screening but may still need to be considered in children with RP to avoid missing the rare child with CF.

  20. Exclusive irradiation of cyst adenoid carcinomas: contribution of a dose complement in stereotactic mode

    International Nuclear Information System (INIS)

    Coche-Dequeant, B.; Lefebvre, J.L.; Lacornerie, T.; Lartigau, E.; Attar, M.

    2009-01-01

    The cyst adenoid carcinoma is a rare malignant tumor that reaches principally the salivary glands; It is characterized by a clinical aggressiveness, the presence of peri neural invasions, frequent local recurrences and a high rate of metastases dissemination at delayed distance. The treatment is surgery with a postoperative adjuvant radiotherapy. for the patients suffering of inoperable tumors, the exclusive radiotherapy gives bad results with tests of use of heavy particles. The place of a hypo fractionated treatment on a stereotactic mode has not been evaluated, especially in dose complement after three dimensional irradiation. The purpose was to answer the following question if the Cyberknife was useful to deliver a complement of hypo fractionated stereotactic dose for the inoperable head and neck tumors. The limited number of patients does not allow a definitive conclusion. however, this therapy option seems interesting for the inoperable tumors subject to the management of the toxicity induced by the treatment. The evaluation of the irradiation volumes remains the critical element for the feasibility of this kind of protocol. (N.C.)

  1. Gene therapy for cystic fibrosis.

    Science.gov (United States)

    Mueller, Christian; Flotte, Terence R

    2008-12-01

    Cystic Fibrosis (CF) is an autosomal recessive disorder due to mutations in the CF transmembrane conductance regulator (CFTR) gene that lead to defective ion transport in the conducting pulmonary airways and exocrine glands. Through a process that is not fully understood, CFTR defects predispose affected patients to chronic endobronchial infections with organisms such as Pseudomonas aeruginosa and Staphylococcus aureus. Following the discovery of the CFTR gene in 1989, CF became one of the primary targets for gene therapy research. Early enthusiasm surrounded the new field of gene therapy during most of the 1990s and it led academics and clinicians on a big effort to apply gene therapy for cystic fibrosis. Clinical studies have been pursued using recombinant adenovirus, recombinant adeno-associated virus, cationic liposomes, and cationic polymer vectors. Although to this date no dramatic therapeutic benefits have been observed, a lot of information has been gained from the pre-clinical and clinical studies that were performed. This learning curve has led to the optimization of vector technology and an appreciation of immune and mechanical barriers that have to be overcome for successful delivery.

  2. Parenting adolescents with cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf; Lomborg, Kirsten

    2011-01-01

    Background: When suffering from cystic fibrosis (CF), a number of problems may arise during adolescence; for example, poor adherence. The problems may be attributed to the adolescent being insufficiently prepared for adult life. Research on different ways of parenting adolescents with CF and the ......Background: When suffering from cystic fibrosis (CF), a number of problems may arise during adolescence; for example, poor adherence. The problems may be attributed to the adolescent being insufficiently prepared for adult life. Research on different ways of parenting adolescents with CF...... and the influence of different parenting styles on the adolescents’ adherence to treatment is still limited. Aim: The aim of this study was to identify the types of parental support that adolescents and young adults with CF want and find helpful in terms of preparing them for adult life. Methods: Sixteen Danish...... was conducted. Results: The adolescents and young adults wanted their parents educated about the adolescent experience. They wanted their parents to learn a pedagogical parenting style, to learn to trust them, and to learn to gradually transfer responsibility for their medical treatment. Additionally...

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  4. Rapidly Evoluting Congenital Cystic Neuroblastoma in a Neonate

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-08-15

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

  5. CT diagnosis of cystic ovarian lesions

    International Nuclear Information System (INIS)

    Iio, Kazuto; Shinmura, Ryoji; Arima, Naomi; Yamada, Eiichiro; Ohkubo, Koichi; Nagata, Yukihiro

    1985-01-01

    CT was undertaken and CT numbers were measured in 47 patients with cystic ovarian lesions. CT features particularly for chocolate cyst revealed the uniform thickness of the whole cystic wall, findings suggesting adhesion to the surrounding organs, circular or oval shape, and higher CT numbers within the cyst than those in the other cystic ovarian lesions. However, because these features are not always observed in cases of chocolate cyst, one should not rely solely on CT findings in the diagnosis of chocolate cyst. (Namekawa, K.)

  6. Inhaled mannitol for cystic fibrosis.

    Science.gov (United States)

    Nevitt, Sarah J; Thornton, Judith; Murray, Clare S; Dwyer, Tiffany

    2018-02-09

    Several agents are used to clear secretions from the airways of people with cystic fibrosis. Mannitol increases mucociliary clearance, but its exact mechanism of action is unknown. The dry powder formulation of mannitol may be more convenient and easier to use compared with established agents which require delivery via a nebuliser. Phase III trials of inhaled dry powder mannitol for the treatment of cystic fibrosis have been completed and it is now available in Australia and some countries in Europe. This is an update of a previous review. To assess whether inhaled dry powder mannitol is well tolerated, whether it improves the quality of life and respiratory function in people with cystic fibrosis and which adverse events are associated with the treatment. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises references identified from comprehensive electronic databases, handsearching relevant journals and abstracts from conferences.Date of last search: 28 September 2017. All randomised controlled studies comparing mannitol with placebo, active inhaled comparators (for example, hypertonic saline or dornase alfa) or with no treatment. Authors independently assessed studies for inclusion, carried out data extraction and assessed the risk of bias in included studies. The quality of the evidence was assessed using GRADE. Six studies (reported in 50 publications) were included with a total of 784 participants.Duration of treatment in the included studies ranged from 12 days to six months, with open-label treatment for an additional six months in two of the studies. Five studies compared mannitol with control (a very low dose of mannitol or non-respirable mannitol) and the final study compared mannitol to dornase alfa alone and to mannitol plus dornase alfa. Two large studies had a similar parallel design and provided data for 600 participants, which could be pooled where data for a particular outcome and time point were

  7. Resection and Reconstruction of Maxillary Class IIIc Defect in a Case of Adenoid Cystic Carcinoma: Cost-Sensitive Technique without Microvascular Grafts

    Directory of Open Access Journals (Sweden)

    Dwarkadas Adwani

    2013-01-01

    Full Text Available ACC is a rare malignant tumor that affects most commonly the major and minor salivary glands and rarely the paranasal sinuses, lacrimal gland, larynx, ear, vulva, and so forth. The maxillary sinus when affected is considered having a poor prognosis due to delayed diagnosis and delayed treatment credited to its slow spread, late symptoms, and complex anatomy which hampers surgical resection. The expressions of tumor markers too have a significant role in determining the prognosis. The treatment of choice consists of wide radical resection of the tumor followed by radiotherapy. Rehabilitation options in cases with huge maxillary defects still need further exploration.

  8. Cystic fibrosis-related diabetes

    DEFF Research Database (Denmark)

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

    2006-01-01

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

  9. Nutrition in Cystic Fibrosis: Macro- and Micronutrients

    NARCIS (Netherlands)

    Oudshoorn, Johanna Hermiena

    2006-01-01

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

  10. Cystic fibrosis : a hereditary inflammatory process

    NARCIS (Netherlands)

    Terheggen-Lagro, S.W.J.

    2006-01-01

    Cystic fibrosis (CF) lung disease is characterized by an exaggerated, and extended inflammation, with a massive influx of neutrophils and high concentrations of interleukin (IL)-8 in bronchoalveolar lavage fluid (BALF). Furthermore, patients with CF have chronic bacterial airway infection,

  11. Preterm twin gestation and cystic periventricular leucomalacia

    NARCIS (Netherlands)

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

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

  12. Liver Transplantation for Cirrhosis in Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    T Lamireau

    2006-01-01

    Full Text Available BACKGROUND: Liver disease is the third most common cause of death in children with cystic fibrosis (CF. Liver transplantation is an effective treatment in children with hepatic failure.

  13. Cystic Fibrosis and gastroesophageal reflux disease.

    Science.gov (United States)

    Maqbool, Asim; Pauwels, Ans

    2017-11-01

    Gastroesophageal reflux is common in children and adults with cystic fibrosis (CF). Pathological gastroesophageal reflux disease (GERD) is also frequent in patients of all ages with CF. This article reviews the pathophysiology, diagnostic work-up, management options, complications, and future directions in the evaluation and management of GERD - unique to and pertinent for - patients with CF in particular. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  14. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

    Reither, M.; Peltner, H.U.; Weigel, W.; Braune, M.; Heiming, E.

    1980-01-01

    The congenital cystic adenomatoid malformation (CCAM) of the newborn is a particular form among the cystic disorders of the lung. The clinical findings, illustrated by four cases, and especially the roentgenographic symptoms are typical. Different radiologic examinations, including the computertomography, are discussed. The differential diagnosis of the disease is various, and therefore a correct and on time diagnosis is necessary, because the prognosis of the patient depends on an adequate therapy. (orig.) [de

  15. Festival food coma in cystic fibrosis.

    Science.gov (United States)

    Pandit, Chetan; Graham, Christie; Selvadurai, Hiran; Gaskin, Kevin; Cooper, Peter; van Asperen, Peter

    2013-07-01

    Children with cystic fibrosis liver disease and portal hypertension are at risk of developing acute hepatic encephalopathy. Even in the presence of normal synthetic liver function these children may have porto-systemic shunting. We report a case of an adolosecent who had cystic fibrosis liver disease and presented with life threatening hepatinc encephalopathy. This case illustrates that it is necessary to consider an appropriate dietary regimen in adolosecents with liver disease to prevent hepatic decompensation. Copyright © 2012 Wiley Periodicals, Inc.

  16. Renal cystic disease: A practical overview

    International Nuclear Information System (INIS)

    Hartman, D.S.

    1987-01-01

    Renal cystic disease includes a group of lesions with extremely diverse clinical, radiographic, and pathologic findings. The recent development of multiple imaging systems to study renal cystic disease has resulted in considerable interest in correlating the images obtained by different modalities with each other and with the underlying gross pathology. A thorough knowledge of the disturbed morphology and natural history of these diseases will lead to a better understanding of their appearance on radiologic imaging. This refresher course correlates disturbed morphology with appearances on diagnostic imaging, urography, US, angiography, CT, and MR imaging. The advantages and limitations of each imaging method are detailed. A practical classification emphasizing differential features is presented. The presentation is divided into two parts. In the first part typical and atypical cystic masses, including acquired cystic disease (from dialysis), Von Hippel-Lindau disease, and the cystic disease of tuberous sclerosis are discussed. In the second part, polycystic kidney disease (dominant and recessive), medullary cystic disease, medullary sponge kidney, multicycle-dysplastic kidney, renal sinus cysts (peripelvic), and pluricystic kidney disease are discussed

  17. The importance of passive smoking in the accumulation of Pb, Be, Ba, Mg, Ca, Sr in the children adenoid

    Directory of Open Access Journals (Sweden)

    Maria Gerycka

    2014-09-01

    Full Text Available Introduction. The quality of our life is determined by the quality of the air that we breathe. Hence the influence of cigarette smoking and secondary exposure of persons within the smoking environment is significant. Previous studies have confirmed the influence of passive smoking to on the accumulation of given elements in the tonsils. The subject of the study is to determine the importance of ETS exposure for the accumulation of Pb, Be, Ba, Ca, Mg and Sr in the pharyngeal tonsils. Material and methods. The study involved 162 adenoids from boys and girls living in Tychy and Chorzów. exposed and not exposed to passive smoking. All biological samples were subjected to mineralization with nitric acid (V from Merck. The chemical composition of the samples was determined by the ICP – AES method. Results. The statistical analysis of the elements in the tonsils of children exposed and not exposed to ETS is performed taking into account as an additional criterion of distribution the place of residence and gender of the children. Conclusions. There was no significant effect of passive smoking on the increase of the examined metals in the adenoid. However the role of gender and place of residence to the process of accumulation of elements in this organ remains significant.

  18. Investigation of resectability degree for adenoidal surgery in OSA children with the method of computational fluid dynamics.

    Science.gov (United States)

    Hu, Changlong; Han, Demin; Zhou, Bing; Zhang, Luo; Li, Yunchuan; Zang, HongRui; Li, LiFeng

    2017-01-01

    From aspect of fluid dynamics, expanding patients' nasopharyngeal coronal-sectional area to 48.3-54.7% of normal area will bring the airflow velocity back to normal in adenoidal hypertrophy children. It might provide a suggestion for adenoidectomy range selection and whether total resection is necessary. To evaluate the nasopharyngeal airflow characteristics in pediatric OSA patients with adenoidal hypertrophy, and to explore the proper resection range for adenoidectomy Method: Nine OSA patients and four normal children were recruited. The CT scans of their upper airway were collected and used to construct three dimensional models for fluid dynamics analysis. Using computational fluid dynamics, indices such as velocity, pressure, and coronal-sectional area were calculated. Compared with the normal, the OSA children showed three characteristics in nasopharyngeal: the airflow velocity was significantly higher (p  0.05). In a study of the relationship between velocity and coronal-sectional area, this study investigates different coronal-sectional areas from 30-300 mm 2 . It was found that, when patients' nasopharyngeal coronal-sectional area was expanded over 155-170 mm 2 , namely 48.3-54.7% of normal area, airflow velocity in nasopharyngeal showed no difference than normal.

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

    Science.gov (United States)

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

    2017-01-18

    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.

  20. Relationships among nasal resistance, adenoids, tonsils, and tongue posture and maxillofacial form in Class II and Class III children.

    Science.gov (United States)

    Iwasaki, Tomonori; Sato, Hideo; Suga, Hokuto; Takemoto, Yoshihiko; Inada, Emi; Saitoh, Issei; Kakuno, Eriko; Kanomi, Ryuzo; Yamasaki, Youichi

    2017-05-01

    The purpose of this study was to clarify the relationships between upper airway factors (nasal resistance, adenoids, tonsils, and tongue posture) and maxillofacial forms in Class II and III children. Sixty-four subjects (mean age, 9.3 years) with malocclusion were divided into Class II and Class III groups by ANB angles. Nasal resistance was calculated using computational fluid dynamics from cone-beam computed tomography data. Adenoids, tonsils, and tongue posture were evaluated in the cone-beam computed tomography images. The groups were compared using Mann-Whitney U tests and Student t tests. The Spearman rank correlations test assessed the relationships between the upper airway factors and maxillofacial form. Nasal resistance of the Class II group was significantly larger than that of the Class III group (P = 0.005). Nasal resistance of the Class II group was significantly correlated with inferior tongue posture (P Class III group was significantly correlated with anterior tongue posture (P Class III group was significantly correlated with mandibular protrusion. The relationships of upper airway factors differ between Class II and Class III children. Copyright © 2017 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  1. Oxygen therapy for cystic fibrosis.

    Science.gov (United States)

    Elphick, Heather E; Mallory, George

    2013-07-25

    The most serious complications of cystic fibrosis (CF) relate to respiratory insufficiency. Oxygen supplementation therapy has long been a standard of care for individuals with chronic lung diseases associated with hypoxemia. Physicians commonly prescribe oxygen therapy for people with CF when hypoxemia occurs. However, it is unclear if empiric evidence is available to provide indications for this therapy with its financial costs and often profound impact on lifestyle. To assess whether oxygen therapy improves the longevity or quality of life of individuals with CF. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Latest search of Group's Trials Register: 15 May 2013. Randomized or quasi-randomized controlled trials comparing oxygen, administered at any concentration, by any route, in people with documented CF for any time period. Authors independently assessed the risk of bias for included studies and extracted data. This review includes 11 published studies (172 participants); only one examined long-term oxygen therapy (28 participants). There was no statistically significant improvement in survival, lung, or cardiac health. There was an improvement in regular attendance at school or work in those receiving oxygen therapy at 6 and 12 months. Four studies examined the effect of oxygen supplementation during sleep by polysomnography. Although oxygenation improved, mild hypercapnia was noted. Participants fell asleep quicker and spent a reduced percentage of total sleep time in rapid eye movement sleep, but there were no demonstrable improvements in qualitative sleep parameters. Six studies evaluated oxygen supplementation during exercise. Again, oxygenation improved, but mild hypercapnia resulted. Participants receiving oxygen therapy were able to exercise for a

  2. Gene therapy in cystic fibrosis.

    Science.gov (United States)

    Flotte, T R; Laube, B L

    2001-09-01

    Theoretically, cystic fibrosis transmembrane conductance regulator (CFTR) gene replacement during the neonatal period can decrease morbidity and mortality from cystic fibrosis (CF). In vivo gene transfers have been accomplished in CF patients. Choice of vector, mode of delivery to airways, translocation of genetic information, and sufficient expression level of the normalized CFTR gene are issues that currently are being addressed in the field. The advantages and limitations of viral vectors are a function of the parent virus. Viral vectors used in this setting include adenovirus (Ad) and adeno-associated virus (AAV). Initial studies with Ad vectors resulted in a vector that was efficient for gene transfer with dose-limiting inflammatory effects due to the large amount of viral protein delivered. The next generation of Ad vectors, with more viral coding sequence deletions, has a longer duration of activity and elicits a lesser degree of cell-mediated immunity in mice. A more recent generation of Ad vectors has no viral genes remaining. Despite these changes, the problem of humoral immunity remains with Ad vectors. A variety of strategies such as vector systems requiring single, or widely spaced, administrations, pharmacologic immunosuppression at administration, creation of a stealth vector, modification of immunogenic epitopes, or tolerance induction are being considered to circumvent humoral immunity. AAV vectors have been studied in animal and human models. They do not appear to induce inflammatory changes over a wide range of doses. The level of CFTR messenger RNA expression is difficult to ascertain with AAV vectors since the small size of the vector relative to the CFTR gene leaves no space for vector-specific sequences on which to base assays to distinguish endogenous from vector-expressed messenger RNA. In general, AAV vectors appear to be safe and have superior duration profiles. Cationic liposomes are lipid-DNA complexes. These vectors generally have been

  3. Cystic Fibrosis-Related Diabetes (CFRD): Daily Management

    Science.gov (United States)

    Cystic Fibrosis-Related Diabetes (CFRD): Daily Management September 20, 2011 This Web cast is supported by an unrestricted ... Moran, MD Professor, Pediatric Endocrinology University of Minnesota Cystic Fibrosis-Related Diabetes (CFRD): Daily Management September 20, 2011 ...

  4. Microbial ecology and adaptation in cystic fibrosis airways

    DEFF Research Database (Denmark)

    Yang, Lei; Jelsbak, Lars; Molin, Søren

    2011-01-01

    Chronic infections in the respiratory tracts of cystic fibrosis (CF) patients are important to investigate, both from medical and from fundamental ecological points of view. Cystic fibrosis respiratory tracts can be described as natural environments harbouring persisting microbial communities...

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

    Science.gov (United States)

    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)

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

    Science.gov (United States)

    ... Medullary cystic kidney disease type 1 Medullary cystic kidney disease type 1 Printable PDF Open All Close All ... is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Pelizaeus-Merzbacher- ...

  7. Male fertility in cystic fibrosis.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2011-04-05

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

  8. Cystic fibrosis: a clinical view.

    Science.gov (United States)

    Castellani, Carlo; Assael, Baroukh M

    2017-01-01

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

  9. Evaluation of hepatic cystic lesions

    Science.gov (United States)

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

    2013-01-01

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

  10. Growth factors in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Negar Khalighi

    2016-01-01

    Full Text Available Introduction: Cystic fibrosis is one of the most common autosomal recessive diseases that affects sweat glands and mucosa. CF is a hereditary disease with annual incidence of about 2500 new cases in United Kingdom. Insulin-like growth factor-1 (IGF-1 and insulin-like growth factor binding protein-3 levels decrease in CF. The aim of this study was to assess the role of growth peptides in patients with CF. Method: We searched PubMed, Google scholar, IranMedex, and Scientific Information Database (SID in September 2012 to April 2014. We included clinical studies with available abstracts and full texts that were in English or Persian languages. Manual searching was conducted within the reference lists of articles. Two reviewers independently applied eligibility criteria, assessed quality, and extracted data.Result: The earliest study was published in 1997 and the most recent one was in 2014. Study participants were adults in 3 studies (20% and 12 studies (80% were conducted in children. Patients with CF have lower levels of IGF-1 and there is a significant correlation between IGF-1 levels and growth index in patients with CF.Conclusions: IGF-1 decreases in children with CF and might be the cause of poor growth and low body mass index in these children.

  11. Ovarian cystic lesions: a current approach to diagnosis and management.

    Science.gov (United States)

    Ackerman, Susan; Irshad, Abid; Lewis, Madelene; Anis, Munazza

    2013-11-01

    The primary imaging modality for evaluation of ovarian cystic lesions is pelvic ultrasonography. Most ovarian cysts are benign and demonstrate typical sonographic features that support benignity. However, some ovarian cystic lesions have indeterminate imaging features, and the approach to management varies. This article discusses how to recognize and diagnose different types of ovarian cystic lesions, including an approach to management. The learning objective is to recognize imaging features of ovarian cystic lesions. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Cystic astrocytomas in children. The contribution of MRI

    International Nuclear Information System (INIS)

    Vilgrain, V.; Sellier, N.; Lalande, G.; Demange, P.; Kalifa, G.

    1988-01-01

    Three cases of cystic astrocytomas are reported in children. Two are supratentorial and one is a cerebellar tumor. The authors insist on the difficulties of the diagnosis. They emphasize the role of NMR which enables distinction between cystic astrocytomas and other cysts. In agreement with Kjos, the 3 cystic astrocytomas demonstrate an increased T1 and T2 and belong to the group of cystic tumors (type II) [fr

  13. Endocytosis and intracellular protein degradation in cystic fibrosis fibroblasts

    International Nuclear Information System (INIS)

    Jessup, W.; Dean, R.T.

    1983-01-01

    Normal rates of pinocytosis of [ 3 H]sucrose were measured in cystic fibrosis fibroblasts, and were not affected by the addition of cystic fibrosis serum. Bulk protein degradation (a significant proportion of which occurs intralysosomally following autophagy) and its regulation by growth state were apparently identical in normal and cystic fibrosis cultures. (Auth.)

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

    Science.gov (United States)

    Cystic Fibrosis Foundation, Atlanta, GA.

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

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

    Science.gov (United States)

    2013-05-07

    ... Evaluating Cystic Fibrosis AGENCY: Social Security Administration. ACTION: Notice of teleconference. SUMMARY... FR 7968). We use Listings 3.04 and 103.04 to evaluate claims involving cystic fibrosis in adults and... individuals with cystic fibrosis who apply for Social Security disability benefits, and for individuals with...

  16. A residual cystic lesion in acute disseminated encephalomyelitis

    Energy Technology Data Exchange (ETDEWEB)

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

    2000-09-01

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

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

    Directory of Open Access Journals (Sweden)

    N. S. Kamakeri

    2016-10-01

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

  18. Pharmacological management of cystic fibrosis related diabetes.

    Science.gov (United States)

    Moheet, Amir; Moran, Antoinette

    2018-02-01

    There are limited data from randomized clinical trials to guide optimal options for pharmacological treatment of cystic fibrosis related diabetes (CFRD). Current guidelines recommend insulin as the only treatment option for CFRD. Areas covered: Current guidelines for screening, diagnosis and pharmacological agents for treatment of impaired glucose tolerance and CFRD in patients with cystic fibrosis are reviewed. Insights from clinical studies examining the role of insulin therapy in CFRD are presented. Expert commentary: CFRD is the most common extra pulmonary complication of cystic fibrosis, and is primarily related to insulin insufficiency. Insulin is the treatment of choice for CFRD. Insulin treatment is associated with improvement in glycemic control, nutritional status and lung function. Current data does not support use of oral hypoglycemic agents for treatment of CFRD.

  19. Different manifestations of calcifying cystic odontogenic tumor

    Directory of Open Access Journals (Sweden)

    Estevam Rubens Utumi

    2012-09-01

    Full Text Available The calcifying cystic odontogenic tumor normally presents as apainless, slow-growing mass, involving both maxilla and mandible,primarily the anterior segment (incisor/canine area. It generallyaffects young adults in the third to fourth decades, with no genderpredilection. Computerized tomography images revealed importantcharacteristics that were not detected by panoramic radiography,such as fenestration, calcification and tooth-like structures. Thetypical microscopic feature of this lesion is the presence of variableamounts of aberrant epithelial cells, without nuclei, which arenamed “ghost cells”. In addition, dysplastic dentine can be foundand occasionally the cyst can be associated with an area of dentalhard tissue formation resembling an odontoma. The treatment forcalcifying cystic odontogenic tumor involves simple enucleationand curettage. The purpose of this article is to present two differentmanifestation of calcifying cystic odontogenic tumor in whichcomputerized tomography, associated to clinical features, servedas an important tool for diagnosis, adequate surgical planning andfollow-up of patients.

  20. Renal cystic diseases in children: new concepts

    International Nuclear Information System (INIS)

    Avni, Fred E.; Hall, Michelle

    2010-01-01

    This review highlights the changes that have occurred in the general approach to cystic renal diseases in children. For instance, genetic mutations at the level of the primary cilia are considered as the origin of many renal cystic diseases. Furthermore, these diseases are now included in the spectrum of the hepato-renal fibrocystic diseases. Imaging plays an important role as it helps to detect and characterize many of the cystic diseases based on a detailed sonographic analysis. The diagnosis can be achieved during fetal life or after birth. Hyperechoic kidneys and/or renal cysts are the main sonographic signs leading to such diagnosis. US is able to differentiate between recessive and dominant polycystic kidney diseases, hepatocyte nuclear factor 1 Beta mutation, glomerulocystic kidneys and nephronophtisis. MR imaging can, in selected cases, provide additional information including the progressive associated hepatic changes. (orig.)

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

    Science.gov (United States)

    2018-02-13

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

  2. Enteral tube feeding for cystic fibrosis.

    Science.gov (United States)

    Morton, Alison; Wolfe, Susan

    2015-04-09

    Enteral tube feeding is routinely used in many cystic fibrosis centres when oral dietary and supplement intake has failed to achieve an adequate nutritional status. The use of this method of feeding is assessed on an individual basis taking into consideration the patients age and clinical status. To examine the evidence that in people with cystic fibrosis, supplemental enteral tube feeding improves nutritional status, respiratory function, and quality of life without significant adverse effects. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. We also contacted the companies that market enteral feeds and reviewed their databases.Date of the most recent search of the Group's Cystic Fibrosis Trials Register: 13 February 2015.Date of the most recent hand search of PubMed and conference abstract books: 13 February 2015. All randomised controlled trials comparing supplemental enteral tube feeding for one month or longer with no specific intervention in people with cystic fibrosis. The searches identified 38 trials; however, none were eligible for inclusion in this review. There are no trials included in this review. Supplemental enteral tube feeding is widely used throughout the world to improve nutritional status in people with cystic fibrosis. The methods mostly used, nasogastric or gastrostomy feeding, are expensive and may have a negative effect on self-esteem and body image. Reported use of enteral tube feeding suggests that it results in nutritional and respiratory improvement; but, efficacy has not been fully assessed by randomised controlled trials. It is acknowledged, however, that performing a randomised controlled trial would be difficult due to the ethics of withholding an intervention in a group of patients whose nutritional status necessitates it.

  3. Liver Disease in Cystic Fibrosis: an Update

    Science.gov (United States)

    Parisi, Giuseppe Fabio; Di Dio, Giovanna; Franzonello, Chiara; Gennaro, Alessia; Rotolo, Novella; Lionetti, Elena; Leonardi, Salvatore

    2013-01-01

    Context Cystic fibrosis (CF) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the Caucasian population. As the median survival has increased related to early multidisciplinary intervention, other manifestations of CF have emergedespecially for the broad spectrum of hepatobiliary involvement. The present study reviews the existing literature on liver disease in cystic fibrosis and describes the key issues for an adequate clinical evaluation and management of patients, with a focus on the pathogenetic, clinical and diagnostic-therapeutic aspects of liver disease in CF. Evidence Acquisition A literature search of electronic databases was undertaken for relevant studies published from 1990 about liver disease in cystic fibrosis. The databases searched were: EMBASE, PubMed and Cochrane Library. Results CF is due to mutations in the gene on chromosome 7 that encodes an amino acidic polypeptide named CFTR (cystic fibrosis transmembrane regulator). The hepatic manifestations include particular changes referring to the basic CFTR defect, iatrogenic lesions or consequences of the multisystem disease. Even though hepatobiliary disease is the most common non-pulmonary cause ofmortalityin CF (the third after pulmonary disease and transplant complications), only about the 33%ofCF patients presents clinically significant hepatobiliary disease. Conclusions Liver disease will have a growing impact on survival and quality of life of cystic fibrosis patients because a longer life expectancy and for this it is important its early recognition and a correct clinical management aimed atdelaying the onset of complications. This review could represent an opportunity to encourage researchers to better investigate genotype-phenotype correlation associated with the development of cystic fibrosis liver disease, especially for non-CFTR genetic polymorphisms, and detect predisposed individuals. Therapeutic trials are needed to find strategies of

  4. The cystic fibrosis of exocrine pancreas

    DEFF Research Database (Denmark)

    Wilschanski, Michael; Novak, Ivana

    2013-01-01

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

  5. Diagnosis of Adult Patients with Cystic Fibrosis.

    Science.gov (United States)

    Nick, Jerry A; Nichols, David P

    2016-03-01

    The diagnosis of cystic fibrosis (CF) is being made with increasing frequency in adults. Patients with CF diagnosed in adulthood typically present with respiratory complaints, and often have recurrent or chronic airway infection. At the time of initial presentation individuals may appear to have clinical manifestation limited to a single organ, but with subclinical involvement of the respiratory tract. Adult-diagnosed patients have a good response to CF center care, and newly available cystic fibrosis transmembrane receptor-modulating therapies are promising for the treatment of residual function mutation, thus increasing the importance of the diagnosis in adults with unexplained bronchiectasis. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Clinical features of pancreatic cystic neoplasms and its therapeutic strategy

    Directory of Open Access Journals (Sweden)

    ZHANG Jiali

    2016-05-01

    Full Text Available The detection rate of pancreatic cystic neoplasms obviously increases with the development of imaging technology. However, it is still difficult to make the differential diagnosis between different types of pancreatic cystic neoplasms. For pancreatic cystic neoplasms, the physical condition of the patient, tumor size, location, patient preference, and other potential factors should be considered to develop an individualized treatment. The incidence rate of complications is high, although the operative mortality of pancreatic cystic neoplasms is very low. Therefore, it is necessary to strictly make the treatment decision for pancreatic cystic neoplasms.

  7. Carcinoma adenoide quístico parotídeo: soluciones estéticas y funcionales

    Directory of Open Access Journals (Sweden)

    Raquel Villar

    2014-07-01

    Full Text Available El carcinoma adenoide quístico supone el 10-30% de las neoplasias malignas parotídeas, su tratamiento se basa en una parotidectomía que incluya el tumor con un adecuado margen de seguridad y la radioterapia postoperatoria dado que permite mejorar el control locorregional de la enfermedad. Revisamos un caso que permite exponer el manejo de las secuelas funcionales y estéticas derivadas de su tratamiento. Consideramos adecuada la reconstrucción inmediata del nervio facial cuando se encuentra clínicamente afecto o englobado por el tumor; así como suplir el defecto de volumen posparotidectomía con un colgajo local. Proponemos la anastomosis nerviosa con injerto de nervio sural de las ramas del nervio facial afectas y el relleno del defecto volumen posparotidectomía con un colgajo de fascia temporo-parietal.

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

    Science.gov (United States)

    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 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 nonproducers in the adenoid core and the nasopharynx were detected.H. influenzae and H

  9. The diagnosis of cystic fibrosis.

    Science.gov (United States)

    De Boeck, Kris; Vermeulen, Francois; Dupont, Lieven

    2017-06-01

    Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients: they present with a clear clinical picture (most frequently chronic respiratory symptoms plus malabsorption), the sweat chloride value is>60mmol/L and two known disease causing CFTR mutations are identified. In less than 5% of subjects, mainly those with a milder or limited phenotype, the diagnostic process is more complex, because initial diagnostic test results are inconclusive: sweat chloride concentration in the intermediate range, less than 2 CF causing mutations identified or both. These patients should be referred to expert centers where bioassays of CFTR function like nasal potential difference measurement or intestinal current measurement can be done. Still, in some patients, despite symptoms compatible with CF and some indication of CFTR dysfunction (e.g. only intermediate sweat chloride value), diagnostic criteria are not met (e.g. only 1 CFTR mutation identified). For these subjects, the term CFTR related disorder (CFTR-RD) is used. Patients with disseminated bronchiectasis, congenital bilateral absence of the vas deferens and acute or recurrent pancreatitis may fall in this category. CF has a very wide disease spectrum and increasingly the diagnosis is being made during adult life, mainly in subjects with milder phenotypes. In many countries, nationwide CF newborn screening (NBS) has been introduced. In screen positive babies, the diagnosis of CF must be confirmed by a sweat test demonstrating a sweat chloride concentration above 60mmol/L. To achieve the benefit of NBS, every baby in whom the diagnosis of CF is confirmed must receive immediate follow-up and treatment in a CF reference center. CF NBS is not full proof: some diagnoses will be missed and in some babies the diagnosis cannot be confirmed nor ruled out with certainty. Screening algorithms that include gene sequencing will detect a high number of such babies that are screen positive with an

  10. Retrorectal Cystic Hamartoma: A Problematic 'Tail'

    African Journals Online (AJOL)

    had attained menarche at 14 years of age and had normal menstrual cycle. General physical and per abdominal ... uncommon developmental cystic lesion occurring in this space which mostly occurs in middle-aged females. We ... Singh Marg, New Delhi, India. Address for correspondence: Dr. Suhani, Senior Resident,.

  11. Prognosis in Cystic Fibrosis: Trends and Predictors

    NARCIS (Netherlands)

    Slieker, M.G.

    2008-01-01

    Cystic fibrosis (CF) is a multisystem disease affecting the digestive system, sweat glands, and the reproductive tract, but progressive lung disease continues to be the major cause of morbidity and mortality. Patients develop chronic infection of the respiratory tract with a characteristic array of

  12. Cystic echinococcosis in sub-Saharan Africa

    NARCIS (Netherlands)

    Wahlers, Kerstin; Menezes, Colin N.; Wong, Michelle L.; Zeyhle, Eberhard; Ahmed, Mohammed E.; Ocaido, Michael; Stijnis, Cornelis; Romig, Thomas; Kern, Peter; Grobusch, Martin P.

    2012-01-01

    Cystic echinococcosis is regarded as endemic in sub-Saharan Africa; however, for most countries only scarce data, if any, exist. For most of the continent, information about burden of disease is not available; neither are data for the animal hosts involved in the lifecycle of the parasite, thus

  13. Barriers to adherence in cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf

    2012-01-01

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

  14. Cystic fibrosis year in review 2016.

    Science.gov (United States)

    Savant, Adrienne P; McColley, Susanna A

    2017-08-01

    In this article, we highlight cystic fibrosis (CF) research and case reports published in Pediatric Pulmonology during 2016. We also include articles from a variety of journals that are thematically related to these articles, or are of special interest to clinicians. © 2017 Wiley Periodicals, Inc.

  15. Pseudomonas aeruginosa biofilms in cystic fibrosis

    DEFF Research Database (Denmark)

    Høiby, Niels; Ciofu, Oana; Bjarnsholt, Thomas

    2010-01-01

    The persistence of chronic Pseudomonas aeruginosa lung infections in cystic fibrosis (CF) patients is due to biofilm-growing mucoid (alginate-producing) strains. A biofilm is a structured consortium of bacteria, embedded in a self-produced polymer matrix consisting of polysaccharide, protein...

  16. Psychosocial problems in children with cystic fibrosis

    DEFF Research Database (Denmark)

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

    2007-01-01

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

  17. Immunoreactive trypsin and neonatalscreening for cystic fibrosis

    International Nuclear Information System (INIS)

    Travert, G.; Laroche, D.; Blandin, C.; Pasquet, C.

    1988-01-01

    Immunoreactive trypsin (IRT) was measured in dried blood spots from 160.822 five-day-old babies as a part of a regionwide neonatal screening program for cystic fibrosis. A second test was performed for 492 babies in whom blood IRT levels were found greater than 900 μg/l; retesting revealed persistent elevation in 55. Sweat testing confirmed cystic fibrosis in 43 babies, but results were normal in 12. During the course of this study, a total of 51 cystic fibrosis babies were identified: 43 by newborn screening, 6 because they had meconium ileus; so, early diagnosis was achieved in 49 cases out of 51. Two newborn babies did not have elevated IRT and they were missed by the screening test. Our results confirm that elevated blood IRT is characteristic of newborn babies with cystic fibrosis and show that this test has an excellent specificity (99.7%) and a good sensitivity (95%) when used as a neonatal screening test [fr

  18. Respiratory bacterial infections in cystic fibrosis

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  19. Mature cystic teratomas: Relationship between histopathological ...

    African Journals Online (AJOL)

    ... tumor size, symptoms related to MCT and laterality of the tumor did not differ among the patients according to the MCT contents. Conclusions: Our findings suggest no relationship between the clinical features and histopathological contents of MCTs. Key words: Histopathological contents, mature cystic teratoma, ovarian, ...

  20. Nutritional assessment in children with cystic fibrosis

    Science.gov (United States)

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

  1. Zinc supplementation in children with cystic fibrosis

    Science.gov (United States)

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

  2. Congenital cystic adenomatoid malformation: case report | Wafula ...

    African Journals Online (AJOL)

    Congenital cystic adenomatoid malformation of the lung is a rare lesion that typically manifests as severe progressive respiratory distress in the neonate secondary to expansion of the affected lung. We present a neonate in whom this condition was diagnosed and managed at the Aga Khan University Hospital. In presenting ...

  3. [Intra-cystic renal calcium milk].

    Science.gov (United States)

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

    2015-02-01

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

  4. CYSTIC AMELOBLASTOMA: A CLINICO-PATHOLOGIC REVIEW

    African Journals Online (AJOL)

    a tertiary health care centre. Materials: All cases diagnosed as cystic ameloblastoma in the ..... Unicystic amelobla- stoma. A prognostically distinct entity. Cancer. 1977;40: 2278-2285. 4. Ackermann GL, Altini M, Shear M: The unicystic ameloblastoma: A clinicopathologic study of 57 cases. J Oral Pathol. 1988;17: 541-546. 5.

  5. Cystic echinococcosis: prevalence and economic significance in ...

    African Journals Online (AJOL)

    A cross-sectional study was conducted from November 2015 to April 2016 at ELFORA export abattoir to determine the prevalence, cyst viability, organ distribution and economic significance of small ruminant cystic echinococcosis. A total of 850 small ruminants (400 sheep and 450 goats), were examined for the presence of ...

  6. Cystic echinococcosis: Future perspectives of molecular epidemiology

    Science.gov (United States)

    Human cystic echinococcosis (CE) has been conceived to be caused predominantly by Echinococcus granulosus sensu stricto (the dog-sheep strain). Recent molecular approaches on CE, however, have revealed that human cases are also commonly caused by another species, Echinococcus canadensis. All indices...

  7. Nutrient Status of Adults with Cystic Fibrosis

    Science.gov (United States)

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

    2011-01-01

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

  8. Physical exercise training for cystic fibrosis.

    Science.gov (United States)

    Radtke, Thomas; Nevitt, Sarah J; Hebestreit, Helge; Kriemler, Susi

    2017-11-01

    Physical exercise training may form an important part of regular care for people with cystic fibrosis. This is an update of a previously published review. To assess the effects of physical exercise training on exercise capacity by peak oxygen consumption, pulmonary function by forced expiratory volume in one second, health-related quality of life and further important patient-relevant outcomes in people with cystic fibrosis. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search: 04 May 2017.We searched ongoing trials registers (clinicaltrials.gov and the WHO ICTRP). Date of most recent search: 10 August 2017. All randomised and quasi-randomised controlled clinical trials comparing exercise training of any type and a minimum duration of two weeks with conventional care (no training) in people with cystic fibrosis. Two authors independently selected studies for inclusion, assessed methodological quality and extracted data. The quality of the evidence was assessed using the GRADE system. Of the 83 studies identified, 15 studies which included 487 participants, met the inclusion criteria. The numbers in each study ranged from nine up to 72 participants; two studies were in adults, seven were in children and adolescents and six studies included all age ranges. Four studies of hospitalised participants lasted less than one month and 11 studies were outpatient-based, lasting between two months and three years. The studies included participants with a wide range of disease severity and employed differing levels of supervision with a mixture of types of training. There was also wide variation in the quality of the included studies.This systematic review shows very low- to low-quality evidence from both short- and long-term studies that in people

  9. Pregnancy and cystic fibrosis: Approach to contemporary management

    Science.gov (United States)

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

    2014-01-01

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

  10. Cystic fibrosis and renal disease: a case report

    Directory of Open Access Journals (Sweden)

    Al-Shawwa Baha A

    2007-06-01

    Full Text Available Abstract Background Cystic fibrosis (CF is an autosomal recessive disease that is predominantly seen in the Caucasian population and involves multiple organs. Traditionally it has been thought that the kidney is the only organ which does not seem to be generally affected by the disease although the cystic fibrosis transmembrane conductance regulator (CFTR gene is expressed in the kidney. Case presentation We report the case of an 11 year old boy with cystic fibrosis and nephrotic syndrome and review the literature that describes nephrotic syndrome and renal involvement in cystic fibrosis. Conclusion With continued advances in the management of cystic fibrosis and improvement in life expectancy, several unrecognized co-morbidities are expected to emerge. It is important to screen patients for possible co-morbidities. Urine analysis may be helpful in this group of patients and any proteinuria should raise the suspicion of cystic fibrosis-related renal disease.

  11. A case report of corgenotal cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Jun, Soon Ae; Cha, Kyung Sub; Chi, Je Geun

    1987-01-01

    Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care

  12. Invasive Cystic Hypersecretory Carcinoma of the Breast: A Case Report

    OpenAIRE

    Lee, Ji Shin; Lee, Young Jik

    2004-01-01

    Cystic hypersecretory lesions of the breast are rare. These breast lesions include cystic hypersecretory hyperplasia (CHH), atypical CHH, and cystic hypersecretory carcinoma (CHC). The characteristic features are dilated ducts and cysts filled with thyroid colloid-like eosinophilic secretion. Only seven cases of invasive CHC have been reported in the literature. Here, we report an additional case of invasive CHC. The histologic features of the tumor showed both micropapillary intraductal carc...

  13. A case report of corgenotal cystic adenomatoid malformation

    Energy Technology Data Exchange (ETDEWEB)

    Jun, Soon Ae; Cha, Kyung Sub; Chi, Je Geun [Cha Women' s Hospital, Seoul (Korea, Republic of)

    1987-08-15

    Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care.

  14. Radiologic features of cystic, endocrine and other pancreatic neoplasms

    International Nuclear Information System (INIS)

    Balci, N. Cem; Semelka, Richard C.

    2001-01-01

    This article presents imaging features of cystic, endocrine and other pancreatic neoplasms. Microcystic adenoma which is composed of small cysts ( 2 cm) are accounted for mucinous cystic neoplasms, its variant along pancreatic duct is ductectatic mucinous cystic neoplasm. Endocrine tumors of pancreas are hypervascular and can be depicted on early dynamic enhanced crosssectional imaging modalities or on angiography when they are <1 cm. Pancreatic metastases and lymphomas are rare neoplasms which should also be included in differential diagnosis for pancreatic masses

  15. Mature cystic Theratome. Presentation of a case

    International Nuclear Information System (INIS)

    Rivera B, Aura Lucia; Carrillo B, Jorge Alberto; Ojeda L, Paulina

    2004-01-01

    The case of a patient of five months of age is presented, to which was diagnosed cystic theratome, initially was assisted in another institution to present consistent square of four days in dry cough and sialorrea. It was managed initially with pneumonia diagnosis and spill paraneumonic. The x-ray of initial thorax demonstrated an opacity committing the two inferior thirds of the left hemithorax, with obliteration of the costofrenic angle and contralateral deviation of the cardio mediastinum, later on another thorax x-ray to the entrance with diagnostic impression of sepsis of lung origin and pneumonia suspicion with spill associate pleural, was practiced closed thoracotomy, obtaining 60 cc of sallow liquid. For the persistence of the opacity basal left in the control x-ray, he was practiced thorax tomography. For the presence of multiple densities and the localization of the lesion it outlines the possibility of cystic theratome

  16. The cystic form of rheumatoid arthritis

    International Nuclear Information System (INIS)

    Dijkstra, P.F.; Gubler, F.M.; Maas, A.

    1988-01-01

    A nonerosive form of rheumatoid arthritis (R.A.) was found in 62 patients out of 660 patients with R.A.. These 62 patients exhibit slowly progressive cystic changes in about the same joints in which usually erosions develop in classic R.A.. The E.S.R. is often low, half of the patients remained seronegative and there are 35 males and 27 females in the group. A smaller group of 15 out of these patients could be followed from a stage wherein the radiographs were normal to a stage of extensive cystic changes, over a period of at least 6 years. An attempt is made to delineate this group within the rheumatoid arthritis disease entity. (orig.) [de

  17. Inspiratory muscle training for cystic fibrosis.

    Science.gov (United States)

    Houston, Brian W; Mills, Nicola; Solis-Moya, Arturo

    2013-11-21

    Cystic fibrosis is the most common life-limiting genetic condition in Caucasians and the life-expectancy of those newly diagnosed is increasing. Inspiratory muscle training may be a way of improving the lung function and quality of life of people with cystic fibrosis. Hence there is a need to establish whether this intervention is beneficial. To determine the effect of inspiratory muscle training on health-related quality of life, pulmonary function and exercise tolerance. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials register comprising of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of most recent search: 08 July 2013. Randomised or quasi-randomised clinical controlled trials comparing different inspiratory muscle training regimens with each other or a control in people with cystic fibrosis. Three review authors independently applied the inclusion and exclusion criteria to publications and assessed the quality of the included studies. Fourteen studies were identified. Of these eight studies with 180 participants met the review inclusion criteria. There was wide variation in the quality of the included studies. Data were not published in sufficient detail or with sufficiently similar outcome measures in these studies to perform meta-analyses. We have not found any evidence to suggest that this treatment is either beneficial or not. We would advise that practitioners evaluate on a case-by-case basis whether or not to employ this therapy. We recommend that future studies make more use of health-related quality of life and exercise tolerance measures; and that there is an agreement upon a single standard measure of classifying the clinical status of the participants.

  18. MR imaging of pancreas in cystic fibrosis

    International Nuclear Information System (INIS)

    Murayama, S.; Robinson, A.E.; Mulvihill, D.M.; Stallworth, J.M.; Goyco, P.G.; Beckerman, R.C.; Hines, M.R.

    1990-01-01

    The pancreatic regions of 18 patients with cystic fibrosis were analyzed with a 1.5 Tesla MR unit. Signal intensity of the pancreas was correlated with clinical data and ultrasound. A hyperintense pancreas on T1-weighted image was consistent with fatty replacement of pancreatic insufficiency. A pancreas of normal soft tissue intensity was found in two asymptomatic and one symptomatic patient. A very hypointense pancreas on any pulse sequence was considered to be an intermediate stage of pancreatic degeneration. (orig.)

  19. Impending Airway Compromise due to Cystic Hygroma

    Directory of Open Access Journals (Sweden)

    Itai Shavit

    2011-05-01

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

  20. Mature cystic teratoma involving adrenal gland.

    Science.gov (United States)

    Bedri, Shahinaz; Erfanian, Kamil; Schwaitzberg, Steven; Tischler, Arthur S

    2002-01-01

    A mature cystic teratoma presented as an adrenal mass in a 57-yr-old woman. The tumor was found to be predominantly paraadrenal but focally interrupted the adrenal cortex so that an intraadrenal origin could not be ruled out. Similar lesions have been reported extremely rarely and should be considered in the differential diagnosis of hormonally silent adrenal tumors. The findings of rimlike calcification and fatty density on computed tomography may be helpful diagnostically.

  1. Posterior midline cervical fetal cystic hygroma.

    Directory of Open Access Journals (Sweden)

    Oak S

    1992-04-01

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

  2. Genetic modifiers of nutritional status in cystic fibrosis1234

    OpenAIRE

    Bradley, Gia M; Blackman, Scott M; Watson, Christopher P; Doshi, Vishal K; Cutting, Garry R

    2012-01-01

    Background: Improved nutrition early in life is associated with better pulmonary function for patients with cystic fibrosis (CF). However, nutritional status is poorly correlated with the CFTR genotype.

  3. Bilateral cystic neuroblastoma: imaging features and differential diagnoses

    International Nuclear Information System (INIS)

    Cassady, C.; Winters, W.D.

    1997-01-01

    Neuroblastoma is one of the most common malignant tumors of childhood, with 40 % arising in the adrenal glands. Bilateral adrenal involvement from synchronous development or metastatic spread of the tumor is seen in less than 10 % of children with neuroblastoma [1[. Neuroblastoma rarely presents as a cystic suprarenal mass that is difficult to differentiate from adrenal hemorrhage, extralobar sequestration, or dilated upper-pole renal calyces. To our knowledge, bilateral cystic neuroblastoma has not been previously reported. We present a case of bilateral cystic adrenal neuroblastoma to demonstrate the imaging features of this unusual entity, and to expand the differential diagnosis of bilateral cystic suprarenal masses in an infant. (orig.). With 2 figs

  4. Giant cystic thymoma with haemorrhage and necrosis: an unusual case.

    Science.gov (United States)

    Pai, Radha R; Sahu, Kausalya; Shetty, A B; Goel, Garima; Prasad, H V Krishna

    2009-01-01

    Extreme degree of cystic, haemorrhagic and necrotic changes in a thymoma is rare. A 22-year-old male presented with cough, grade 2 dyspnoea, and occasional chest pain for the past six months. Radiological investigations revealed a large cystic lesion in the anterior mediastinum. A benign cystic tumour was suspected. Surgical resection of the tumour was done. Grossly, the almost entirely cystic and haemorrhagic dumb-bell shaped encapsulated tumour showed a subcapsular residual nodule. Histopathological examination was suggestive diagnosis of benign thymoma (World Health Organization [WHO] Type A, medullary type) associated with the rare features of cells with dendritic processes containing melanin pigment seen singly scattered throughout the tumour.

  5. Giant cystic lymphangioma of the mesentery: varied clinical ...

    African Journals Online (AJOL)

    Giant cystic lymphangioma of the mesentery: varied clinical presentation of 3 cases. Mohamed Rami, Abdelhalim Mahmoudi, Aziz El Madi, Khalid Khattala, Moulay Abderrahmane Afifi, Youssef Bouabdallah ...

  6. Cystic fibrosis: a mucosal immunodeficiency syndrome

    Science.gov (United States)

    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

  7. Cystic variant of calcifying epithelial odontogenic tumor.

    Science.gov (United States)

    Gopalakrishnan, Rajaram; Simonton, Susan; Rohrer, Michael D; Koutlas, Ioannis G

    2006-12-01

    Calcifying epithelial odontogenic tumor (CEOT) is a benign, locally aggressive odontogenic neoplasm characterized by sheets and nests of epithelial cells with deeply eosinophilic or occasionally clear cytoplasm, calcifications, and eosinophilic amorphous material that stains positive for amyloid. Although many cases of CEOT are associated with impacted teeth and occasionally appear radiographically as dentigerous cysts, a true cystic variant has not been previously reported. We report a 15-year-old white male with a large cystic maxillary lesion that filled most of the left maxillary sinus. It deformed the medial wall, the inferior orbital floor, and caused narrowing of the left inferior meatus. Histologically, the cystic lining showed characteristics of CEOT. An intraluminal component that featured histologic characteristics of CEOT was identified during surgery. The lesion was enucleated and the postsurgical course of the patient was uneventful. Because follow-up has been for less than 1 year, a meaningful long-term prognosis cannot be determined at present. However, the patient has not reported any symptoms or signs of recurrence during the follow-up period.

  8. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-04-15

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

  9. Nephronophthisis and medullary cystic kidney disease complex

    Directory of Open Access Journals (Sweden)

    Stanišić Marijana

    2005-01-01

    Full Text Available Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern of inheritance, appears early in life and is the most frequent inherited kidney disease that causes terminal renal failure in childhood, while medullary cystic kidney disease has the autosomal dominant pattern of inheritance, is less frequent, and terminal renal failure appears later in life. These two forms have similar clinical and morphological findings but extrarenal manifestations, the median ages of occurrence of terminal renal failure, and siblings presence help us distinguish these diseases. Case report. In this article we illustrated the case of a 20- years old patient with the suspicion of having complex nephornophthisis and medullary cystic kidney disease based upon mild renal failure, seen in routinely taken laboratory findings and bilateral cysts in corticomedullary region of the kidneys verified on abdominal ultrasound examination. Conclusion. This disease should rise suspicion in children or adolescents with progressive renal failure, a typical clinical manifestation, blood and urine samples results, bilateral cysts in the corticomedullary region of the kidneys seen during ultrasound examination of the kidneys and family inheritance.

  10. Oral calorie supplements for cystic fibrosis.

    Science.gov (United States)

    Smyth, Rosalind L; Rayner, Oli

    2017-05-04

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

  11. Clusterin in human gut-associated lymphoid tissue, tonsils, and adenoids: localization to M cells and follicular dendritic cells.

    Science.gov (United States)

    Verbrugghe, Phebe; Kujala, Pekka; Waelput, Wim; Peters, Peter J; Cuvelier, Claude A

    2008-03-01

    The follicle-associated epithelium (FAE) overlying the follicles of mucosa-associated lymphoid tissue is a key player in the initiation of mucosal immune responses. We recently reported strong clusterin expression in the FAE of murine Peyer's patches. In this study, we examined the expression of clusterin in the human gut-associated lymphoid tissue (GALT) and Waldeyer's ring. Immunohistochemistry for clusterin in human Peyer's patches, appendix and colon lymphoid follicles revealed expression in M cells and in follicular dendritic cells (FDCs). Using cryo-immunogold electron microscopy in Peyer's patches, we observed cytosolic immunoreactivity in M cells and labeling in the ER/Golgi biosynthetic pathway in FDCs. In palatine tonsils and adenoids, we demonstrated clusterin expression in germinal centers and in the lymphoepithelium in the crypts where M cells are localized. In conclusion, clusterin is expressed in M cells and follicular dendritic cells at inductive sites of human mucosa-associated lymphoid tissue suggesting a role for this protein in innate immune responses. Moreover, the use of clusterin as a human M cell marker could prove to be a valuable tool in future M cell research.

  12. Vitamin D supplementation for cystic fibrosis.

    Science.gov (United States)

    Ferguson, Janet H; Chang, Anne B

    2014-05-14

    Cystic fibrosis (CF) is a genetic disorder with multiorgan effects. In a subgroup with pancreatic insufficiency malabsorption of the fat soluble vitamins (A, D, E, K) may occur. Vitamin D is involved in calcium homeostasis and bone mineralisation and may have extraskeletal effects. This review examines the evidence for vitamin D supplementation in cystic fibrosis. To assess the effects of vitamin D supplementation on the frequency of vitamin D deficiency, respiratory outcomes and vitamin D toxicity in the cystic fibrosis population. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search: 08 July 2013. Randomised and quasi-randomised controlled studies of vitamin D supplementation compared to placebo in the cystic fibrosis population regardless of exocrine pancreatic function. Both authors independently assessed the risk of bias of each included study and extracted outcome data (from published study information) for assessment of bone mineralization, growth and nutritional status, frequency of vitamin D deficiency, respiratory status, quality of life and adverse events. Six studies (239 participants) are included, although only three studies provided data from 69 adults and children with cystic fibrosis for analysis. One study compared a single high dose of vitamin D (250,000 IU) to placebo at the time of hospital admission with a respiratory exacerbation in 30 pancreatic insufficient adults with cystic fibrosis. The second study compared supplemental 800 international units (IU) vitamin D and placebo for 12 months in 30 osteopenic pancreatic insufficient adults; both groups continued 900 IU vitamin D daily. The third study compared supplemental 1 g calcium alone, 1600 IU vitamin D alone, 1600 IU vitamin D and 1 g calcium and placebo in a double

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

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

    DEFF Research Database (Denmark)

    Fluge, G; Olesen, H V; Gilljam, M

    2009-01-01

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

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

    NARCIS (Netherlands)

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

    2013-01-01

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

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

    DEFF Research Database (Denmark)

    Fluge, G; Ojeniyi, B; Høiby, N

    2001-01-01

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

  17. Uptake of genetic counselling services by patients with cystic fibrosis ...

    African Journals Online (AJOL)

    2011-05-09

    May 9, 2011 ... Original Research: Uptake of genetic counselling services by patients with cystic fibrosis and their families. 250. Vol 54 No 3. S Afr Fam Pract 2012. Introduction. Cystic fibrosis (CF) is a chronic, inherited disorder that affects the respiratory tract, pancreas, gastrointestinal system, exocrine sweat glands, and ...

  18. Intestinal Obstruction due to Bilateral Ovarian Cystic Teratoma in a ...

    African Journals Online (AJOL)

    Erah

    Both ovaries showed features of benign cystic teratoma consisting of a cystic lesion lined by skin with attached adnexal components such as sweat glands, hair follicle and sebaceous glands. Mucin secreting glands, smooth muscles and cartilage were also seen. Figures 4 and 5. Discussion. A teratoma is a germ cell tumor ...

  19. A rare case of Cystic artery arising from Gastroduodenal artery ...

    African Journals Online (AJOL)

    The tortuous cystic artery arose outside hepatobiliary triangle, crossed the common bile duct anteriorly and was lying anterior to the cystic duct hiding it from view. On reaching the neck of gall bladder, it again travelled for short distance before its termination. The non-peritonealised surface of the gall bladder was receiving ...

  20. Mucinous cystic neoplasm of the pancreas in a male patient

    Directory of Open Access Journals (Sweden)

    Kazuhiro Yoshida

    2011-04-01

    Full Text Available Mucinous cystic neoplasms (MCNs make up a morphologic family of similar appearing tumors arising in the ovary and various extraovarian organs such as pancreas, hepatobiliary tract and mesentery. MCNs of the pancreas occur almost exclusively in women. Here, we report a rare case of MCN in a male patient. A 39-year-old man was admitted to our hospital with the chief complaint of back pain. Abdominal computed tomography revealed a multilocular cyctic mass 6.3 cm in diameter in the pancreatic tail. In addition, the outer wall and septae with calcification were demonstrated in the cystic lesion. On magnetic resonance imaging , the cystic fluid had low intensity on T1-weighted imaging and high intensity on T2-weighted imaging. Endoscopic retrograde cholangio-pancreatography (ERCP showed neither communication between the cystic lesion and the main pancreatic duct nor encasement of the main pancreatic duct. Endoscopic ultrasonography revealed neither solid component nor thickness of the septae in the cystic lesion. Consequently, we performed distal pancreatectomy with splenectomy under the diagnosis of cystic neoplasia of the pancreas. Histopathologically, the cystic lesion showed two distinct component: an inner epithelial layer and an outer densely cellular ovarian-type stromal layer. Based on these findings, the cystic lesion was diagnosed as MCN.

  1. Transcatheter Embolization of Cystic Artery Pseudoaneurysms Secondary to Acute Cholecystitis.

    Science.gov (United States)

    Tapnio, Richard H; Kolber, Marcin K; Shukla, Pratik A; Berkowitz, Eric

    2017-10-01

    Cystic artery pseudoaneurysm is a rare entity most closely associated with trauma to the biliary vasculature (usually iatrogenic) or inflammation from adjacent cholecystitis. Most cases are treated intraoperatively during cholecystectomy. We describe 3 cases of cystic artery pseudoaneurysms secondary to acute cholecystitis, 2 with active hemobilia, treated with transcatheter embolization at our institution.

  2. Radiological Evaluation of Cystic Lesions Presenting as Painful Knee

    Directory of Open Access Journals (Sweden)

    Rajpal Yadav

    2014-06-01

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

  3. Giant cystic lymphangioma of the small bowel mesentery: case report

    African Journals Online (AJOL)

    Giant cystic lymphangioma of the small bowel mesentery: case report. K Khattala, M Rami, A Elmadi, A Mahmoudi, Y Bouabdallah. Abstract. Cystic lymphangioma is an uncommon mesenteric tumor which is usually reported in children. We describe a case of a 12-years old girl who was admitted in our hospital with ...

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

    DEFF Research Database (Denmark)

    Johansen, Helle Krogh; Gøtzsche, Peter C

    2015-01-01

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

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

    DEFF Research Database (Denmark)

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

    2008-01-01

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

  6. Antioxidant supplementation for lung disease in cystic fibrosis

    DEFF Research Database (Denmark)

    Ciofu, Oana; Lykkesfeldt, Jens

    2014-01-01

    BACKGROUND: Airway infection leads to progressive damage of the lungs in cystic fibrosis and oxidative stress has been implicated in the etiology. Supplementation of antioxidant micronutrients (vitamin E, vitamin C, ß-carotene and selenium) or glutathione may therefore potentially help maintain...... an oxidant-antioxidant balance. Current literature suggests a relationship between oxidative status and lung function. OBJECTIVES: To synthesize existing knowledge of the effect of antioxidants such as vitamin C, vitamin E, ß-carotene, selenium and glutathione in cystic fibrosis lung disease. SEARCH METHODS......: The Cochrane Cystic Fibrosis and Genetic Disorders Group's Cystic Fibrosis Trials Register and PubMed were searched using detailed search strategies. We contacted authors of included studies and checked reference lists of these studies for additional, potentially relevant studies.Last search of Cystic Fibrosis...

  7. Normal sweat chloride test does not rule out cystic fibrosis.

    Science.gov (United States)

    Başaran, Abdurrahman Erdem; Karataş-Torun, Nimet; Maslak, İbrahim Cemal; Bingöl, Ayşen; Alper, Özgül M

    2017-01-01

    Başaran AE, Karataş-Torun N, Maslak İC, Bingöl A, Alper ÖM. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59: 68-70. A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492.2) genotyping results were positive for p.E92K; p.F1052V mutations. The patient was diagnosed with cystic fibrosis. In our patient, with features of CF and normal sweat test, mutation analysis was helpful for the diagnosis of cystic fibrosis.

  8. Microbiological surveillance in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Paola Gualdi

    2010-06-01

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

  9. Cystic Fibrosis Revisited - a Review Study.

    Science.gov (United States)

    Klimova, Blanka; Kuca, Kamil; Novotny, Michal; Maresova, Petra

    2017-01-01

    Cystic fibrosis (CF) is an incurable, chronic disease, which causes severe damages to respiratory and digestive tracts. It is the most common genetically inherited disease among caucasians. This disease is caused by defects in CF genes, the so-called mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene population. At present over 100,000 people suffer from this disease worldwide. The purpose of this review study is to describe the pathophysiology of CF and provide the latest information on its diagnosis and treatment therapies with respect to the improvement of patient's quality of life and emphasis on targeted specialized care. The methodological approaches include a method of literature review of available sources exploring the issue of cystic fibrosis both from a global and specific perspective point of view. A search was performed in the databases PubMed, MEDLINE, Web of Science, Scopus, Springer and ScienceDirect. Furthermore, other sources cited in the analyzed studies were also examined. On the basis of evaluation of these literature sources, the research issue was explored. The main benefits (e.g., specialized centres for the treatment of CF exist or a new breakthrough in the gene therapy of CF has been made) and limitations (e.g., comorbidity of CF, lifelong and costly treatment, or adverse impact on patient's and caregiver's quality of life) in the treatment of narcolepsy are highlighted. CF requires an integrated treatment approach in specialized CF centers, involving various factors contributing to a better patient's state of health in the form of relevant and well-balanced non-pharmacological and pharmacological therapies. In addition, further large scale clinical trials are needed in order to develop compounds that are aimed at the most common classes of CFTR. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  10. Vitamin K supplementation for cystic fibrosis.

    Science.gov (United States)

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

    2017-08-22

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

  11. Cystic Fibrosis Diagnosis and Newborn Screening.

    Science.gov (United States)

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

    2016-08-01

    The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Benign Cystic Mesothelioma Misdiagnosed as Peritoneal Carcinomatosis

    Directory of Open Access Journals (Sweden)

    Hyun Deok Shin

    2016-04-01

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

  13. CYSTIC FIBROSIS: MICROBIOLOGY AND HOST RESPONSE

    Science.gov (United States)

    Zemanick, Edith T.

    2016-01-01

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

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

    Science.gov (United States)

    Bellon, G

    2012-05-01

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

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

    Science.gov (United States)

    Fayon, M; Chiron, R; Abely, M

    2008-06-01

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

  16. [Nutritional management of cystic fibrosis in children].

    Science.gov (United States)

    Anton, Dana-Teodora; Moraru, D

    2010-01-01

    Children with cystic fibrosis (CF) are at risk for poor growth. A major goal in the management of CF patients is to maintain a good nutritional status as it improves long-term survival. A balanced diet, which includes adequate calories and the right vitamin and mineral supplements, is key to good nutrition and health. The authors present the improvements in management of nutrition that have occurred, particularly over the past 20 years. They also present the dietetic reccomandations for each group of age.

  17. Cystic fibrosis chronic rhinosinusitis: A comprehensive review

    Science.gov (United States)

    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

  18. Imaging the Abdominal Manifestations of Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    C. D. Gillespie

    2017-01-01

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

  19. Global impact of bronchiectasis and cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Margarida Redondo

    2016-09-01

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

  20. Cystic Fibrosis and the Nervous System.

    Science.gov (United States)

    Reznikov, Leah R

    2017-05-01

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

  1. Primary tuberculosis of cystic duct lymph node.

    Science.gov (United States)

    Ghazanfar, Aamir; Asghar, Afifa; Khan, Naqeeb Ullah; Hassan, Iram

    2017-06-16

    Tuberculosis (TC) is very common and significant cause of morbidity and mortality worldwide. Isolated cystic duct lymph node TC cases without involvement of gallbladder are exceedingly rare. It is difficult to diagnose preoperatively because of lack of characteristic signs and symptoms of TC. We report a man aged 45 years who presented with right upper abdominal pain since 1week. It was associated with nausea and postprandial fullness. There was no evidence of jaundice and lymphadenopathy. Abdominal examination showed moderate right upper quadrant tenderness with positive Murphy's sign and splenomegaly but no signs of peritonism. Abdomen ultrasound revealed sludge in gallbladder, dilated pancreatic duct, coarse exotexture of liver, splenomegaly and no lymphadenopathy. He underwent laparoscopic cholecystectomy; histological report showed chronic caseating granulomatous lymphadenitis with Langhans type of giant cells in lymph node near cystic duct with chronic cholecystitis of gallbladder. Standard antituberculosis therapy was given for 12 months. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  2. Cystic fibrosis mortality trends in France.

    Science.gov (United States)

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

    2007-05-01

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

  3. Cystic lung disease: Achieving a radiologic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-01-15

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

  4. Cystic Fibrosis Related Diabetes: A Case Report

    Directory of Open Access Journals (Sweden)

    Banu Aktaş Yılmaz

    2012-12-01

    Full Text Available The incidence of cystic fibrosis-related diabetes (CFRD has increased, since the life expectancy of cystic fibrosis (CF patients continues to improve. CFRD increases the mortality in patients, because of the negative impacts of CFRD on pulmonary functions. Knowledge of the pathogenesis and course of the disease is essential to administer the appropriate therapy. A thirty-one-year-old CFRD patient, who had hypoglycemia and weight loss under the calorie restriction diet and basal insulin therapy, was admitted to the Endocrinology Department for revision of her therapy. A high-calorie diet considering increased energy demand and multiple insulin injections according the carbohydrate counting were administered to the patient. She gained weight and target blood glucose levels were achieved as a result of this therapy. We present the first case with CFRD followed in our clinic with the review of the literature about the pathogenesis, course and therapy of this disease to draw attention to a special kind of diabetes, which we will encounter more frequently. Turk Jem 2012; 16: 74-8

  5. Airway inflammation in mild cystic fibrosis.

    Science.gov (United States)

    Eckrich, Jonas; Zissler, Ulrich M; Serve, Friederike; Leutz, Patricia; Smaczny, Christina; Schmitt-Grohé, Sabina; Fussbroich, Daniela; Schubert, Ralf; Zielen, Stefan; Eickmeier, Olaf

    2017-01-01

    Airway infection and inflammation play major roles in the progression of cystic fibrosis (CF) lung disease. In patients with mild disease, airway inflammation is a clinically relevant and often underdiagnosed feature. Lung function, sputum cell counts, and cytokine profiles in CF with mild disease might be different in patients with and without involvement of small airway disease (SAD). Patients with mild CF (n=32) and 22 healthy controls were enrolled in this study. Patients with CF were assigned to two groups: (1) patients without SAD (n=19, median age 12.3years, MEF 25 >50% predicted), and (2) patients with SAD (n=13 median age, 13.2years, MEF 25 inflammation compared to controls as indicated by elevated levels of sputum biomarkers like total cells, neutrophils, and IL6. Our study demonstrated that patients with CF with mild disease defined by lung function might be further endotyped according to their involvement of SAD. In patients with CF and SAD, airway neutrophilic inflammation is more pronounced and is in part distinct from that seen in patients without SAD. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  6. Cystic lung disease: Achieving a radiologic diagnosis

    International Nuclear Information System (INIS)

    Trotman-Dickenson, Beatrice

    2014-01-01

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

  7. Cystic fibrosis microbiology: Advances in antimicrobial therapy.

    Science.gov (United States)

    Waters, Valerie; Smyth, Alan

    2015-09-01

    Much of the improvement in the survival of individuals with cystic fibrosis (CF) is due to advancements in antimicrobial treatments. New aerosolized antibiotic formulations have recently been introduced (such as inhaled aztreonam), and others are in development (inhaled levofloxacin and liposomal amikacin). Licensed dry powder formulations include tobramycin inhalation powder and dry powder colistimethate (available in Europe). Although inhaled antibiotics have the advantage of being able to deliver high intrapulmonary concentrations of drug, antimicrobial resistance can still develop and is a concern in CF. Antimicrobial resistance might be mitigated by using non-antibiotic treatments, antibiotic adjuvants, which have activity against bacteria. Examples include agents such as gallium, antimicrobial peptides and anti-biofilm compounds such as alginate oligosaccharides (OligoG) and garlic. Vaccination strategies and antibody therapy (IgY) against Pseudomonas aeruginosa have also been attempted to prevent initial infection with this organism in CF. Although aggressive and long-term use of antibiotics has been crucial in slowing lung function decline and improving survival in people with CF, it has added a significant burden of care and associated toxicities in these individuals. Careful surveillance and the use of preventative strategies for antibiotic related toxicity (such as nephrotoxicity and ototoxicity) are essential. Continued development of effective antimicrobial agents that can function in the conditions encountered in the CF lung, such as against bacterial biofilm growth and under anaerobic conditions, is needed. Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  8. Absence of an association between HLA typing in cystic fibrosis arthritis and hypertrophic osteoarthropathy.

    OpenAIRE

    Rush, P J; Gladman, D D; Shore, A; Anhorn, K A

    1991-01-01

    Fourteen patients with cystic fibrosis arthritis and eight patients with cystic fibrosis and hypertrophic osteoarthropathy were typed for HLA-A, B, C, DR, and DQ antigens and were compared with age and sex matched controls with cystic fibrosis. The diagnosis of cystic fibrosis arthritis and hypertrophic osteoarthropathy was confirmed by radiography and bone scanning. The prevalence of HLA-A, B, C, D, antigens in the cystic fibrosis group (44 patients) did not differ from that in the control g...

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

    Science.gov (United States)

    Tolstoi, L G; Smith, C L

    1999-11-01

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

  10. Diagnosing cystic fibrosis-related diabetes: current methods and challenges.

    Science.gov (United States)

    Prentice, Bernadette; Hameed, Shihab; Verge, Charles F; Ooi, Chee Y; Jaffe, Adam; Widger, John

    2016-07-01

    Cystic fibrosis-related diabetes (CFRD) is the end-point of a spectrum of glucose abnormalities in cystic fibrosis that begins with early insulin deficiency and ultimately results in accelerated nutritional decline and loss of lung function. Current diagnostic and management regimens are unable to entirely reverse this clinical decline. This review summarises the current understanding of the pathophysiology of CFRD, the issues associated with using oral glucose tolerance tests in CF and the challenges faced in making the diagnosis of CFRD. Medline database searches were conducted using search terms "Cystic Fibrosis Related Diabetes", "Cystic Fibrosis" AND "glucose", "Cystic Fibrosis" AND "insulin", "Cystic Fibrosis" AND "Diabetes". Additionally, reference lists were studied. Expert commentary: Increasing evidence points to early glucose abnormalities being clinically relevant in cystic fibrosis and as such novel diagnostic methods such as continuous glucose monitoring or 30 minute sampled oral glucose tolerance test (OGTT) may play a key role in the future in the screening and diagnosis of early glucose abnormalities in CF.

  11. Singing for children and adults with cystic fibrosis.

    Science.gov (United States)

    Irons, Jung Yoon; Kenny, Dianna Theadora; Chang, Anne B

    2010-05-12

    Cystic fibrosis is a genetically inherited, life-threatening condition that affects major organs. The management of cystic fibrosis involves a multi-faceted daily treatment regimen that includes airway clearance physiotherapy, taking pancreatic enzymes and other medications. Previous studies identified that compliance with this intensive treatment especially among adolescents with cystic fibrosis is poor. Because of both the nature and consequences of the illness and the relentless demands of treatments, many individuals with cystic fibrosis are likely to have a poor quality of life. Anecdotal evidence suggests that singing may provide rigorous exercises for the whole respiratory system as well as a means for emotional expression, which may enhance quality of life. To evaluate the effects of a singing intervention in addition to usual therapy on the quality of life, morbidity, respiratory muscle strength and pulmonary function of children and adults with cystic fibrosis. We searched the Group's Cystic Fibrosis Trials Register, the Cochrane Central Register of Controlled Trials, major allied complementary data bases, and clinical trial registers. Hand searching for relevant conference proceedings and journals was also carried out.Date of search of Trials Register: 02 September 2009.Date of additional searches: 17 September 2009. Randomised controlled trials in which singing (as an adjunctive intervention) is compared with either a sham intervention or no singing in people with cystic fibrosis. No trials were found that met the selection criteria. No meta-analysis could be performed. As no studies that met the criteria were found, this review is unable to support or refute the benefits of singing as a therapy for people with cystic fibrosis. Future randomised controlled trials are required to evaluate singing therapy for people with cystic fibrosis.

  12. Prevalence and pattern of cystic kidney diseases in Ilorin, Nigeria

    Directory of Open Access Journals (Sweden)

    Chijioke Adindu

    2010-01-01

    Full Text Available Cystic kidney disease is an important cause of chronic renal failure. Since the utili-zation of imaging techniques in the diagnosis of diseases has become widespread, cystic kidney disease is now being increasingly diagnosed. This study is designed to determine the prevalence and pattern of cystic kidney disease at the Nephrology Unit of University of Ilorin Teaching Hospital (UITH, Ilorin. All consecutive adult patients seen in the Nephrology Unit of UITH during a ten-year period (January 1999-December 2008 were studied for the presence of cystic kidney disease. The results were analyzed with specific reference to age, gender, annual inci-dence, type of cystic disease, location of cyst, mode of presentation, complications and prognosis. A total of 67 out of 436 renal patients (15.4% studied had cystic kidney disease. A progressive annual increase in the number of cases was noticed. The age-range was 20-83 years with a mean of 47.4 +/- 16.2 years and the peak incidence was in the third and sixth decades with male to female ratio of 1.3:1. The types of cystic kidney disease identified in the study were: 26 simple cysts (38.8%, 35 polycystic kidney disease (53.3% and six multicystic kidney disease (8.9%. The most common mode of presentation was abdominal pain followed by hypertension, urinary tract infection, chronic renal failure and palpable abdominal mass, in decreasing order. Our study indicates that cystic kidney disease is not an uncommon problem among our renal patients and the incidence is on the increase. Although, routine screening of family members with cystic kidney disease still remains a contentious issue because the knowledge may evoke anxiety in terms of employment and insurance, screening of symptomatic cases or those that develop hypertension, hematuria and proteinuria is strongly recommended.

  13. Segmental cystic disease of the kidney: a case report

    International Nuclear Information System (INIS)

    Han, Soo Bong; Chung, Sung Hwa; Cho, Jae Ho

    2008-01-01

    Segmental cystic disease of the kidney is a rare form of cystic disease of the kidney that manifests as variable sized, numerous cysts that are localized in a segment of one kidney. Morphologically and pathologically, it is indistinguishable from autosomal dominant polycystic kidney disease except for its unilateral localization, the lack of an autosomal dominant genetic background and the progressive deterioration of the renal function. We experienced a case of surgically confirmed segmental cystic disease of the kidney in a 49-year-old patient and we report on its ultrasonographic and CT findings, along with a brief review of the relevant literature

  14. Spontaneous Multiseptated Cystic Pneumomediastinum in a Term Newborn

    Directory of Open Access Journals (Sweden)

    Cheng-Ting Lee

    2008-10-01

    Full Text Available Pneumomediastinum usually occurs after assisted ventilation. Spontaneous pneumomediastinum without preceding assisted ventilation, and presenting as a huge cystic mass in a term newborn infant has rarely been reported. We report a term baby who developed respiratory distress at 2 days of age. A huge cystic tumor of the thymus or a congenital mediastinal cystic tumor was initially suggested by chest radiography and computed tomography. Follow-up chest film revealed a “spinnaker sail sign” which is a typical radiographic presentation of pneumomediastinum.

  15. Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis

    International Nuclear Information System (INIS)

    Bullock, S.; Hayward, C.; Manson, J.; Brock, D.J.H.; Raeburn, J.A.

    1982-01-01

    Quantitative immunoprecipitation and immunoradiometric assays have been developed for a protein present in the serum of cystic fibrosis homozygotes, and to a lesser extent in the serum of heterozygotes. When tested on a panel of sera from 14 cystic fibrosis patients, 29 heterozygotes and 23 controls, the immunoprecipitation assay allowed correct assignments to be made on 94% of occasions with one batch of antiserum and 95% with another. With the same panel of sera, the immunoradiometric assay allowed 94% correct assignments. It is suggested that such accuracy is the maximum that can be expected in the present state of knowledge of cystic fibrosis. (author)

  16. MRI of the cystic mass lesions of the pancreas

    Energy Technology Data Exchange (ETDEWEB)

    Ohtomo, Kuni; Itai, Yuji; Yoshikawa, Koki; Kokubo, Takashi; Yashiro, Naofumi; Iio, Masahiro

    1987-03-01

    Five cystic mass lesions of the pancreas were exemined by MRI. Multiplocular fluid components were demonstrated as areas of various signal intensity in mucinous cystadenoma and cystadenocarcinoma. Gas within the cystic mass was noted in ductectatic mucinous cystadenocarcinoma. Honeycomb pattern and classification were not depicted in serous cystadenoma. Necrotic matter was demonstrated as area of lower signal than liver in pseudocyst. These results were then compared with CT and ultrasound and at present enhanced CT combined with ultrasound is more diagnostic than MRI for cystic mass lesions of the pancreas.

  17. Cystic fibrous dysplasia mimicking giant cell tumor: MRI appearance

    Energy Technology Data Exchange (ETDEWEB)

    Okada, Kyoji; Yoshida, Sumiko [Department of Orthopaedics, Akita University School of Medicine, Akita (Japan); Okane, Kumiko [Department of Radiology, Akita University School of Medicine, Akita (Japan); Sageshima, Masato [Division of Clinical Pathology, Akita University Hospital, Akita (Japan)

    2000-01-01

    We report the case of a 43-year-old man who presented with an osteolytic and expansive lesion in the left distal femur mimicking a giant cell tumor. Magnetic resonance imaging (MRI) showed that most of the lesion was cystic, and histological examination revealed fibrous dysplasia with marked cystic degeneration. Radiographic findings of cystic fibrous dysplasia in the end of a long bone may be similar to those of a giant cell tumor, and a biopsy is essential for the final diagnosis. (orig.)

  18. Sclerotherapy for Benign Cystic Diseases in the Neck

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-08-15

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

  19. Giant cystic lymphangioma of the small bowel mesentery: case report

    Science.gov (United States)

    Khattala, Khalid; Rami, Mohamed; Elmadi, Aziz; Mahmoudi, Abdelhalim; Bouabdallah, Youssef

    2011-01-01

    Cystic lymphangioma is an uncommon mesenteric tumor which is usually reported in children. We describe a case of a 12-years old girl who was admitted in our hospital with abdominal distension and pain. Physical examination showed an abdomino-pelvic mass. Preoperative studies including abdominal ultrasonography and computed tomography failed to determine the cause of the pain. Laparotomy found a giant cystic tumor of the small bowel mesentery. Histological studies confirm the diagnosis of cystic lymphangioma. Based on this case, a review of the literature is suggested. PMID:22145071

  20. Cystic lymphangioma of the spleen: US-CT-MRI correlation

    Energy Technology Data Exchange (ETDEWEB)

    Bezzi, M.; Spinelli, A.; Pierleoni, M.; Andreoli, G.M. [Dept. of Radiology, University of Rome ' La Sapienza' (Italy)

    2001-07-01

    A case of a surgically confirmed cystic lymphangioma of the spleen is presented. Preoperative imaging consisted of US, contrast-enhanced CT and MRI, all showing a multiloculated lesion with small cystic cavities divided by thin septa, corresponding to dilated lymphatic spaces. Preoperative studies correlated well with the pathologic findings. Cystic lymphangioma of the spleen is a very rare condition and is usually solitary and asymptomatic. Large lymphangiomas may be an indication for splenectomy, since the risk of rupture is high even from minor abdominal trauma. Preoperative diagnosis may be achieved with correlated noninvasive imaging. (orig.)

  1. Newborn bloodspot screening for cystic fibrosis: What do antenatal and postnatal women know about cystic fibrosis?

    Science.gov (United States)

    Fitzgerald, C; Linnane, B; Heery, E; Conneally, N; George, S; Fitzpatrick, P

    2016-07-01

    The Republic of Ireland has one of the highest reported incidences of cystic fibrosis (CF) in the world (1/1353) with an estimated carrier rate of 1/20. No cure exists, however there have been significant advances in available treatments. Newborn bloodspot screening (NBS) for CF was added to the NBS programme in Ireland in July 2011. Little is known about antenatal or postnatal women's knowledge about CF. This was a cross-sectional study of 662 antenatal (≥36weeks gestation) and 480 postnatal women (post NBS). Women were asked to self-complete a questionnaire including 14 CF knowledge questions. Among the respondents significantly more postnatal than antenatal women were aware that CF is included on the NBS (81.8% vs 63.5%; pdiagnosis. Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  2. Non-invasive ventilation for cystic fibrosis.

    Science.gov (United States)

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

    2017-02-20

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

  3. Pubertal development in cystic fibrosis: an overview.

    Science.gov (United States)

    Arrigo, Teresa; Rulli, I; Sferlazzas, C; De Luca, Filippo

    2003-03-01

    Cystic fibrosis (CF) is an autosomal recessive disease characterized by respiratory and intestinal insufficiencies. It has been reported in the literature that patients with CF show delayed growth and puberty and girls with CF achieve menarche at older age than normal females. Infertility, in both sexes, and menstrual dysfunction, in girls, are common in patients with CF. Previous data suggest that the degree of failure of growth and development is correlated with malnutrition and severity of progressing pulmonary disease. Despite improved nutrition and intensive treatment, patients with CF have delayed puberty and growth pubertal spurt. This maturational lag is accompanied by a significant delay in attaining pubertal levels of insulin-like growth factor-I (IGF-I), luteinizing hormone (LH), follicle-stimulating hormone (FSH) and sex steroid hormones.

  4. Solid and cystic pancreatic papillary carcinoma

    International Nuclear Information System (INIS)

    Quesada Villa, Ingrid; Casa de Valle Castro, Midalys; Navas Igarza, Jacinto

    2014-01-01

    A 22 years-old female patient who began feeling some pain in the upper hemi abdomen that became intensive after food consumption and the feeling of having eaten too much. The serum amylase levels were within the normal limits. The imaging studies both echography and computerized axial tomography disclosed a well-defined and vascularized tumor mass in the tail of pancreas. She was operated on to completely remove the lesion. The anatomopathological study confirmed the diagnosis of solid and cystic pancreatic papillary carcinoma. Later on, the patient received chemotherapy and radiotherapy. The evolutional imaging tests did not show either local relapses or distant metastasis. The patient responded well to treatment and her health status is good nowadays

  5. Paediatric nasal polyps in cystic fibrosis.

    Science.gov (United States)

    Mohd Slim, Mohd Afiq; Dick, David; Trimble, Keith; McKee, Gary

    2016-06-21

    Patients with cystic fibrosis (CF) are at increased risk of nasal polyps. We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and noisy breathing. Imaging suggested bilateral mucoceles in the ethmoid sinuses. Intraoperatively, bilateral soft tissue masses were noted, and both posterior choanae were patent. Polypectomy and bilateral mega-antrostomies were performed. Histological examination revealed inflammatory nasal polyposis typical of CF. The role of early functional endoscopic sinus surgery (FESS) in children with CF nasal polyposis remains questionable as the recurrence rate is higher, and no improvement in pulmonary function has been shown. Our case, however, clearly demonstrates the beneficial upper airway symptom relief and normalisation of facial appearance following FESS in a child with this condition. 2016 BMJ Publishing Group Ltd.

  6. Diabetes mellitus in childhood cystic fibrosis.

    LENUS (Irish Health Repository)

    Rauf, F

    2012-02-03

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

  7. Poly Cystic Ovarian Syndrome: An Updated Overview.

    Science.gov (United States)

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

    2016-01-01

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

  8. Cystic thymoma coexisting with vascular dysplasia.

    Science.gov (United States)

    Papadas, T; Dimopoulos, P A; Sampsonas, F; Mastronikolis, N; Spiropoulos, K; Goumas, P D

    2008-01-01

    We report the case of a 23-year-old female patient, who was admitted to our hospital because of aggravating pain in the right shoulder, right chest and ear accompanied by cough and dyspnea. Imaging revealed a soft tissue mass in the mediastinum in close relation with an additional large mass extending in the right upper thorax, right axilla and neck. The tissue obtained during surgery showed the former mass to be a cystic thymoma, being in contact with an extensive vascular dysplasia. The characteristic clinical presentation, the contribution of imaging, the results of operation, and the follow-up are rather unique. The review of the literature did not reveal similar cases.

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

    Science.gov (United States)

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

    2011-01-01

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

  10. Cystic Fibrosis Chest X-Ray Findings: A Teaching Analog

    Science.gov (United States)

    2008-07-01

    Congenital Cystic Fibrosis Kartagener’s Syndrome Alpha-1 Antitrypsin Deficiency Bronchomalacia Yellow- Nail Syndrome Severe Inflammation...Mycobacterium (i.e. Tuberculosis) MRSA TORCHES Fungal Infection Obstructive Foreign Body Aspiration Bronchial Stricture Airway Mass/Tumor

  11. Differentiation of midbrain cystic lesions by duplex Doppler US

    International Nuclear Information System (INIS)

    Horgan, J.G.; Taylor, K.J.W.; Sarwar, M.; Weltin, G.; Klier, L.

    1986-01-01

    The addition of Doppler technology to an ultrasound imaging system allows easy differentiation of vascular from nonvascular masses. In addition, the characteristic flow in different arteries, veins, and arteriovenous communications allows accurate diagnosis of vascular structures. Cystic lesions in the region of the midbrain are uncommon but not rare in neonates, and it is important to differentiate between quadrigeminal plate cysts and vein of Galen aneurysms. Six neonates with cystic midbrain structures lying above the tectum were studied over a 2-year period. All were examined with duplex Doppler imaging and followed up by CT and angiography, when indicated. In two of the six infants a highly vascular signal was demonstrated with high flow rates and low impedance. Subsequent CT and angiography revealed typical vein of Galen aneurysms. The remaining four infants had cystic lesions that were avascular on Doppler imaging and demonstrated no enhancement on CT. Duplex Doppler imaging is helpful in the initial investigation of patients with midbrain cystic lesions

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

    DEFF Research Database (Denmark)

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

    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...

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

    DEFF Research Database (Denmark)

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

    1998-01-01

    Cystic fibrosis is the most common fatal autosomal recessive disease affecting Caucasian populations. It remains a puzzle how this disease is maintained at such a remarkably high incidence, however, it could be due to a reproductive advantage in cystic fibrosis heterozygotes. We tested...... this hypothesis. An adult Danish general population sample of 9141 individuals was screened for cystic fibrosis DeltaF508 heterozygotes; 250 carriers of this mutation were identified (2.7%). In the total sample DeltaF508 heterozygotes did not have more children than noncarriers; however, smoking interacted.......001). In conclusion, overall these results do not support a reproductive advantage for cystic fibrosis DeltaF508 heterozygotes. However, the data cannot totally exclude the possibility that nonsmoking DeltaF508 heterozygotes experience a reproductive advantage while smoking DeltaF508 heterozygotes experience...

  14. Inflammation in Achromobacter xylosoxidans infected cystic fibrosis patients

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  15. Immunisation in the current management of cystic fibrosis patients

    DEFF Research Database (Denmark)

    Malfroot, Anne; Adam, Georgios; Ciofu, Oana

    2005-01-01

    Although no special recommendations exist, clearly patients with cystic fibrosis (CF) can benefit from immunisation. We reviewed the literature regarding vaccination in CF and other chronic diseases. CF subjects should follow national immunisation programmes without delay to obtain optimal...

  16. Gastrointestinal transit times and motility in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Hedsund, Caroline; Gregersen, Tine; Jønsson, Iben

    2012-01-01

    OBJECTIVE: Patients with cystic fibrosis (CF) often suffer from gastrointestinal (GI) dysfunction including obstructive symptoms, malabsorption and pain, but the underlying pathophysiology remains obscure. AIM: To compare GI motility and transit times in CF patients and healthy controls. MATERIAL...

  17. Adherence to treatment in adolescents with cystic fibrosis

    DEFF Research Database (Denmark)

    Bucks, Romola S.; Hawkins, Katharine; Skinner, T. C.

    2009-01-01

    ObjectivesThis study was conducted to explore the relationships between illness perceptions, emotional representations, treatment beliefs and reported adherence in adolescents with cystic fibrosis (CF). MethodsThirty-eight adolescents completed questionnaires assessing their perceptions of CF...

  18. Lack of harmonization in sweat testing for cystic fibrosis

    DEFF Research Database (Denmark)

    Lindegaard Christiansen, Anne; Nybo, Mads

    2014-01-01

    Abstract Introduction. Sweat testing is used in the diagnosis of cystic fibrosis. Interpretation of the sweat test depends, however, on the method performed since conductivity, osmolality and chloride concentration all can be measured as part of a sweat test. The aim of this study...... fibrosis. Because diagnosing cystic fibrosis is a combined effort between local pediatric departments, biochemical and genetic departments and cystic fibrosis centers, a national harmonization is necessary to assure correct clinical use....... a normal and grey zone or a pathological value. Cut-off values for normal, grey and pathological areas were like the reference intervals inconsistent. Conclusion. There is inconsistent use of NPU codes, reference intervals and interpretation of sweat conductivity used in the process of diagnosing cystic...

  19. Cystic fibrosis with normal sweat chloride concentration: case report

    Directory of Open Access Journals (Sweden)

    Silva Filho Luiz Vicente Ferreira da

    2003-01-01

    Full Text Available Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion ofcystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10kb C->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.

  20. Cystic duct remnant mucocele in a liver transplant recipient

    International Nuclear Information System (INIS)

    Ahlawat, Sushil K.; Fishbien, Thomas M.; Haddad, Nadim G.

    2008-01-01

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

  1. Adeno-associated virus for cystic fibrosis gene therapy

    Directory of Open Access Journals (Sweden)

    S.V. Martini

    2011-11-01

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

  2. Cystic duct remnant mucocele in a liver transplant recipient

    Energy Technology Data Exchange (ETDEWEB)

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

    2008-08-15

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

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

    Science.gov (United States)

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

    2016-11-01

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

  4. Interdisciplinary Management of Cystic Neoplasms of the Pancreas

    Directory of Open Access Journals (Sweden)

    Linda S. Lee

    2012-01-01

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

  5. Abnormal electrochemical skin conductance in cystic fibrosis.

    Science.gov (United States)

    Hubert, Dominique; Brunswick, Philippe; Calvet, Jean-Henri; Dusser, Daniel; Fajac, Isabelle

    2011-01-01

    Electrochemical skin conductance measurement is an active electrophysiologic method in which incremental low direct voltage is applied on the skin. It generates a current due to reverse iontophoresis which previous studies suggested to be mostly related to chloride anion movements. As sweat chloride movements upon electric stimulation were likely to be impaired in cystic fibrosis (CF) patients, we designed a proof-of-concept study to measure electrochemical skin conductance in CF patients and control subjects and to test the ability of this method to discriminate CF from controls. Electrochemical skin conductance was measured in 41 adult patients with classical CF and 20 healthy control subjects. Patients placed their hands and feet on nickel electrodes and an incremental low direct voltage was applied on the anode during 2min. The resulting voltage on the cathode and the current generated between anode and cathode were measured and from them, two electrochemical skin conductance variables were calculated: ESC, obtained when a low voltage of 1.6V was applied, and dESC which took into account electrochemical skin conductances obtained when low and high voltages were applied. ESC measurements on hands and feet were significantly different in CF patients (on feet: 75±10μSi), as compared with control subjects (62±13μSi, pconductance which is easily and rapidly measured is abnormal in CF patients. Trial registry name in the European Clinical Trials Database (eudraCT): "EZSCAN MUCO1: Mesure de la conductance cutanée par chronoampérométrie", N°EUDRACT: 2007-A00221-52. Copyright © 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  6. Human cystic echinococcosis in South Africa

    Directory of Open Access Journals (Sweden)

    Benjamin Mogoye

    2012-06-01

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

  7. Abdominal manifestations of cystic fibrosis in adults: a review

    International Nuclear Information System (INIS)

    Constantine, S.; Au, V.W.K.; Slavotinek, J.P.

    2004-01-01

    Gastrointestinal manifestations of disease are present in most adults with cystic fibrosis. Radiologists are familiar with the classical imaging characteristics of end-stage pulmonary disease and the radiological findings of meconium ileus in neonates. As most patients now live into adulthood, recognition of the imaging appearances of abdominal disease is important to enable prompt diagnosis and treatment. Accordingly, this article presents typical imaging appearances of the adult gastrointestinal manifestations of cystic fibrosis. Copyright (2004) Blackwell Science Pty Ltd

  8. Phenotypes selected during chronic lung infection in cystic fibrosis patients

    DEFF Research Database (Denmark)

    Ciofu, Oana; Mandsberg, Lotte F; Wang, Hengzhuang

    2012-01-01

    During chronic lung infection of patients with cystic fibrosis, Pseudomonas aeruginosa can survive for long periods of time under the challenging selective pressure imposed by the immune system and antibiotic treatment as a result of its biofilm mode of growth and adaptive evolution mediated...... the importance of biofilm prevention strategies by early aggressive antibiotic prophylaxis or therapy before phenotypic diversification during chronic lung infection of patients with cystic fibrosis....

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

    DEFF Research Database (Denmark)

    Johansen, Helle Krogh; Gøtzsche, Peter C

    2013-01-01

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

  10. Cystic fibrosis school for 10-year-olds

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf

    2000-01-01

    Compliance or rather lack of compliance has always been a problem when treating patients with cystic fibrosis. The patients tend to drop the treatment more or less if the treatment gets too complicated or laboured. We have attempted a systematical education of our patients in a CF school...... give them a good basis on which they can make their own choices about how they want to live their lives with cystic fibrosis and with optimal quality of life....

  11. Rehabilitation Programs for Cystic Fibrosis ? View from a CF Center

    OpenAIRE

    Griese, M; Busch, P; Caroli, D; Mertens, B; Eismann, C; Harari, M; Staudter, H; Kappler, M

    2010-01-01

    Background: Rehabilitation programs are comprehensive interventions which effectively improve the health status and reduce costs in chronic respiratory illnesses. Because patients with cystic fibrosis have been discouraged to participate for concerns of microbial cross infection, the efficacy of systematic rehabilitation is unknown for this group. Methods: We retrospectively studied 142 cystic fibrosis patients aged 2-46 years who participated in rehabilitation programs taking place in German...

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

    Energy Technology Data Exchange (ETDEWEB)

    Ebinu, Julius O.; Lwu, Shelly; Monsalves, Eric; Arayee, Mandana [Division of Neurosurgery, Department of Surgery, Toronto Western Hospital, Toronto, Ontario (Canada); Chung, Caroline; Laperriere, Normand J. [Department of Radiation Oncology, Princess Margaret Hospital, University Health Network, University of Toronto, Toronto, Ontario (Canada); Kulkarni, Abhaya V.; Goetz, Pablo [Division of Neurosurgery, Department of Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario (Canada); Zadeh, Gelareh, E-mail: gelareh.zadeh@uhn.on.ca [Division of Neurosurgery, Department of Surgery, Toronto Western Hospital, Toronto, Ontario (Canada)

    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.

  13. Cystic lung disease in tuberculosis: An unusual presentation

    Directory of Open Access Journals (Sweden)

    Animesh Ray

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Walter O. Arruda

    1994-09-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-09-15

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

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

    Directory of Open Access Journals (Sweden)

    I.V. Martynova

    2011-01-01

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

  17. Management of the Upper Airway in Cystic Fibrosis

    Science.gov (United States)

    Illing, Elisa A.; Woodworth, Bradford A.

    2015-01-01

    Purpose of Review Upper airway disease engenders significant morbidity for patients with cystic fibrosis and is increasingly recognized as having a much greater role in pulmonary outcomes and quality of life than originally believed. Widespread disparate therapeutic strategies for cystic fibrosis chronic rhinosinusitis underscore the absence of a standardized treatment paradigm. This review outlines the most recent evidence-based trends in the management of upper airway disease in cystic fibrosis. Recent Findings The unified airway theory proposes that the sinuses are a focus of initial bacterial colonization which seeds the lower airway and may play a large role in maintaining lung infections. Mounting evidence suggests more aggressive treatment of the sinuses may confer significant improvement in pulmonary disease and quality of life outcomes in cystic fibrosis patients. However, there is a lack of high-level evidence regarding medical and surgical management of cystic fibrosis chronic rhinosinusitis that makes generalizations difficult. Summary Well designed clinical trials with long-term follow-up concerning medical and surgical interventions for cystic fibrosis sinus disease are required to establish standardized treatment protocols, but increased interest in the sinuses as a bacterial reservoir for pulmonary infections has generated considerable attention. PMID:25250804

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

    Directory of Open Access Journals (Sweden)

    Victor Costa

    2015-01-01

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

  19. Radiological findings in congenital cystic disease of the lung in infancy

    International Nuclear Information System (INIS)

    Heymer, R.; Benz-Bohm, G.; Arnold, G.; Koeln Univ.

    1982-01-01

    Three infants with congenital cystic disease of the lung are described. They consisted of a solitary bronchial cyst, an adenomatous cystic malformation and congenital lobar emphysema. The radiological appearance and differential diagnosis of these three conditions are discussed. (orig.) [de

  20. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma

    DEFF Research Database (Denmark)

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

    1998-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  2. Organisms isolated from adults with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Moore John E

    2004-12-01

    Full Text Available Abstract Background Patients with cystic fibrosis [CF] have frequent pulmonary exacerbations associated with the isolation of bacterial organisms from sputum samples. It is not clear however, if there are differences in the types of additional organisms isolated from patients who are infected with Burkholderia cepacia complex [BCC] or Pseudomonas aerugionsa [PA] in comparison to those who are not infected with either of these organisms [NI]. Methods Adult patients attending the regional CF unit were followed over a two year period and patients were assigned to three groups depending on whether they were known to be chronically infected with BCC, PA or NI. We compared the numbers and types of organisms which were isolated in each of these groups. Results Information was available on a total of 79 patients; BCC 23, PA 30 and NI 26. Total numbers of organisms isolated, expressed as median and IQR for each group, [P = 0.045] and numbers of co-infecting organisms [P = 0.003] were significantly higher in the BCC group compared to PA, and in the PA group [P Conclusions Total numbers of organisms isolated and numbers of co-infecting organisms were significantly higher in the BCC group compared to PA, and in the PA group compared to NI patients. Types of co-infecting organisms are similar in all groups of patients.

  3. Abdominal manifestations of cystic fibrosis in children

    International Nuclear Information System (INIS)

    Chaudry, Gulraiz; Navarro, Oscar M.; Levine, Daniel S.; Oudjhane, Kamaldine

    2006-01-01

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

  4. Infection, inflammation and exercise in cystic fibrosis

    Science.gov (United States)

    2013-01-01

    Regular exercise is positively associated with health. It has also been suggested to exert anti-inflammatory effects. In healthy subjects, a single exercise session results in immune cell activation, which is characterized by production of immune modulatory peptides (e.g. IL-6, IL-8), a leukocytosis and enhanced immune cell functions. Upon cessation of exercise, immune activation is followed by a tolerizing phase, characterized by a reduced responsiveness of immune cells. Regular exercise of moderate intensity and duration has been shown to exert anti-inflammatory effects and is associated with a reduced disease incidence and viral infection susceptibility. Specific exercise programs may therefore be used to modify the course of chronic inflammatory and infectious diseases such as cystic fibrosis (CF). Patients with CF suffer from severe and chronic pulmonary infections and inflammation, leading to obstructive and restrictive pulmonary disease, exercise intolerance and muscle cachexia. Inflammation is characterized by a hyper-inflammatory phenotype. Patients are encouraged to engage in exercise programs to maintain physical fitness, quality of life, pulmonary function and health. In this review, we present an overview of available literature describing the association between regular exercise, inflammation and infection susceptibility and discuss the implications of these observations for prevention and treatment of inflammation and infection susceptibility in patients with CF. PMID:23497303

  5. Computed Tomography in pulmonary cystic fibrosis

    International Nuclear Information System (INIS)

    Taccone, A.; Marzoli, A.; Romano, L.; Girosi, D.

    1991-01-01

    This study was aimed at evaluating CT sensitivity in identifying the signs of pulmonary cystic fibrosis (CF). The chests of 39 patients (16 males and 23 females, mean age 19.1 years) were examined by CT: all patients had been given a clinical score according to Schwachman and Kulckzycki criteria. Thickened bronchial walls were observed in all cases, which are typical of peribronchitis. Bronchiectases were present in 87% of cases; their extent, pattern and localization were exactly shown on CT scans. Bronchoceles were seen on CT scans in 64% of patients; less frequent was the finding of atelectases and subpleural bullous emphysema. In a great number of patients (64% and 82%, respectively) pleural thickening and hilar adenopathy were demonstrated on CT scans. In conclusion, our results confirm CT as a more sensitive method than conventional radiography to identify and locate the signs of pulmonary CF. The early identification of the lesions of high prognostic value, since the early detection and treatment of bronchoceles may prevent permanent bronchiectasis

  6. Asthma and cystic fibrosis: A tangled web.

    LENUS (Irish Health Repository)

    Kent, Brian D

    2014-03-01

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

  7. Asthma and cystic fibrosis: a tangled web.

    Science.gov (United States)

    Kent, Brian D; Lane, Stephen J; van Beek, Edwin J; Dodd, Jonathan D; Costello, Richard W; Tiddens, Harm A W M

    2014-03-01

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

  8. Abdominal manifestations of cystic fibrosis in children

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-03-15

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

  9. A millennial view of cystic fibrosis.

    Science.gov (United States)

    Dodge, John A

    2015-01-01

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

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

    Science.gov (United States)

    Durupt, S; Mazur, S; Reix, P

    2016-02-01

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

  11. Cystic echinococcosis in water buffaloes (Bubalus bubalis

    Directory of Open Access Journals (Sweden)

    G. Cringoli

    2010-02-01

    Full Text Available An epidemiological and molecular survey of cystic echinococcosis (CE caused by Echinococcus granulosus in the water buffalo (Bubalus bubalis of the Italian Mediterranean breed was carried out in the Campania region of southern Italy. Out of a total of 799 water buffaloes examined at slaughterhouses, 80 (10.0% were found infected. The molecular study was performed on 58 hydatid cysts in order to determine the E. granulosus strain(s present in this host. A region of cytocrome c oxydase 1 gene (CO1 was amplified by polymerase chain reaction and the PCR products were then purified and sequenced. DNA amplification of the partial CO1 gene gave a 446 bp fragment for all isolates examined. After sequencing, a region of 419 bp was identified for each sample. Thirty-two isolates were identified as the common sheep strain G1, 15 as the buffalo strain G3, 3 as the Tasmanian sheep strain G2, and 3 as the G1 c genotype (GenBank AF458873. In addition, 5 isolates presented 99% identity with the G2 genotype (Tasmanian sheep strain.

  12. Viruses in cystic fibrosis patients' airways.

    Science.gov (United States)

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

    2017-11-01

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

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

    Directory of Open Access Journals (Sweden)

    Nico Derichs

    2013-03-01

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

  14. Hypoglycaemia in cystic fibrosis: An analysis of a single centre adult cystic fibrosis clinic.

    Science.gov (United States)

    Armaghanian, Natasha; Markovic, Tania P; Brand-Miller, Jennie C; Bye, Peter T P; Moriarty, Carmel P; Steinbeck, Kate S

    2017-12-15

    Hypoglycaemia in cystic fibrosis (CF) is known to occur during oral glucose tolerance tests (OGTT) and continuous glucose monitoring, however demographic, clinical and mechanistic data are limited. The aims of this study were to review patient electronic medical records (EMR) in order to 1) describe patient characteristics of a university teaching hospital CF clinic, 2) determine the prevalence of hypoglycaemia on OGTT and explore associations with demographic and clinical characteristics, and 3) explore patient reported symptoms suggestive of hypoglycaemia documented in the EMR. Adults who attended the RPA CF clinic between January 2009 to April 2016 were included in the study. The prevalence of hypoglycaemia on OGTT was determined and clinical and demographic data were compared to age, sex and glucose tolerance matched controls. Reported symptoms suggestive of hypoglycaemia documented in EMR were qualitatively explored. Hypoglycaemia on OGTT was prevalent in 25 (3 fasting and 22 reactive) of 169 patients who had an OGTT. They were heavier, less likely to have pancreatic insufficiency and had a lower insulin response at 2-h. Another 14 patients reported symptoms suggestive of hypoglycaemia in their EMR. No patient appropriately suppressed insulin at 2-h on OGTT. This study identified two potentially different presentations of hypoglycaemia occur in different clinic sub-populations. Knowledge gaps in the aetiology and triggers of hypoglycaemia remain. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  15. Cystic change in pulmonary tuberculosis in an immunocompetent adult: a case report

    International Nuclear Information System (INIS)

    Ko, Sung Min; Seo, Soo Ji; Choi, Won Il; Jeon, Young June

    2008-01-01

    Cystic change associated with pulmonary tuberculosis is rarely encountered, and few reports are available on the radiologic findings of pulmonary tuberculosis presenting as multiple cystic lesions associated with consolidation or bronchohematogenous nodules. The cystic lesions in our pulmonary tuberculosis patient occurred during steroid treatment without antituberculous chemotherapy and progressively increased in size, but subsequently became smaller after the initiation of antituberculous chemotherapy. Herein, we report the chest radiographic and computed tomographic findings of cystic change in pulmonary tuberculosis in an immunocompetent adult

  16. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma

    DEFF Research Database (Denmark)

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

    1998-01-01

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

  17. Lung function imaging methods in Cystic Fibrosis pulmonary disease.

    Science.gov (United States)

    Kołodziej, Magdalena; de Veer, Michael J; Cholewa, Marian; Egan, Gary F; Thompson, Bruce R

    2017-05-17

    Monitoring of pulmonary physiology is fundamental to the clinical management of patients with Cystic Fibrosis. The current standard clinical practise uses spirometry to assess lung function which delivers a clinically relevant functional readout of total lung function, however does not supply any visible or localised information. High Resolution Computed Tomography (HRCT) is a well-established current 'gold standard' method for monitoring lung anatomical changes in Cystic Fibrosis patients. HRCT provides excellent morphological information, however, the X-ray radiation dose can become significant if multiple scans are required to monitor chronic diseases such as cystic fibrosis. X-ray phase-contrast imaging is another emerging X-ray based methodology for Cystic Fibrosis lung assessment which provides dynamic morphological and functional information, albeit with even higher X-ray doses than HRCT. Magnetic Resonance Imaging (MRI) is a non-ionising radiation imaging method that is garnering growing interest among researchers and clinicians working with Cystic Fibrosis patients. Recent advances in MRI have opened up the possibilities to observe lung function in real time to potentially allow sensitive and accurate assessment of disease progression. The use of hyperpolarized gas or non-contrast enhanced MRI can be tailored to clinical needs. While MRI offers significant promise it still suffers from poor spatial resolution and the development of an objective scoring system especially for ventilation assessment.

  18. MicroRNAs in the pathogenesis of cystic kidney disease.

    Science.gov (United States)

    Phua, Yu Leng; Ho, Jacqueline

    2015-04-01

    Cystic kidney diseases are common renal disorders characterized by the formation of fluid-filled epithelial cysts in the kidneys. The progressive growth and expansion of the renal cysts replace existing renal tissue within the renal parenchyma, leading to reduced renal function. While several genes have been identified in association with inherited causes of cystic kidney disease, the molecular mechanisms that regulate these genes in the context of post-transcriptional regulation are still poorly understood. There is increasing evidence that microRNA (miRNA) dysregulation is associated with the pathogenesis of cystic kidney disease. In this review, recent studies that implicate dysregulation of miRNA expression in cystogenesis will be discussed. The relationship of specific miRNAs, such as the miR-17∼92 cluster and cystic kidney disease, miR-92a and von Hippel-Lindau syndrome, and alterations in LIN28-LET7 expression in Wilms tumor will be explored. At present, there are no specific treatments available for patients with cystic kidney disease. Understanding and identifying specific miRNAs involved in the pathogenesis of these disorders may have the potential to lead to the development of novel therapies and biomarkers.

  19. 21 CFR 866.5900 - Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation detection system.

    Science.gov (United States)

    2010-04-01

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

  20. 75 FR 45646 - Design of Clinical Trials of Aerosolized Antimicrobials for the Treatment of Cystic Fibrosis...

    Science.gov (United States)

    2010-08-03

    ...] Design of Clinical Trials of Aerosolized Antimicrobials for the Treatment of Cystic Fibrosis; Public... development of aerosolized antimicrobials for the management and/or treatment of patients with cystic fibrosis... respiratory symptoms in patients with cystic fibrosis. This public workshop is intended to provide information...

  1. Not All Children with Cystic Fibrosis Have Abnormal Esophageal Neutralization during Chemical Clearance of Acid Reflux.

    Science.gov (United States)

    Woodley, Frederick W; Moore-Clingenpeel, Melissa; Machado, Rodrigo Strehl; Nemastil, Christopher J; Jadcherla, Sudarshan R; Hayes, Don; Kopp, Benjamin T; Kaul, Ajay; Di Lorenzo, Carlo; Mousa, Hayat

    2017-09-01

    Acid neutralization during chemical clearance is significantly prolonged in children with cystic fibrosis, compared to symptomatic children without cystic fibrosis. The absence of available reference values impeded identification of abnormal findings within individual patients with and without cystic fibrosis. The present study aimed to test the hypothesis that significantly more children with cystic fibrosis have acid neutralization durations during chemical clearance that fall outside the physiological range. Published reference value for acid neutralization duration during chemical clearance (determined using combined impedance/pH monitoring) was used to assess esophageal acid neutralization efficiency during chemical clearance in 16 children with cystic fibrosis (3 to cystic fibrosis. Duration of acid neutralization during chemical clearance exceeded the upper end of the physiological range in 9 of 16 (56.3%) children with and in 3 of 16 (18.8%) children without cystic fibrosis ( p =0.0412). The likelihood ratio for duration indicated that children with cystic fibrosis are 2.1-times more likely to have abnormal acid neutralization during chemical clearance, and children with abnormal acid neutralization during chemical clearance are 1.5-times more likely to have cystic fibrosis. Significantly more (but not all) children with cystic fibrosis have abnormally prolonged esophageal clearance of acid. Children with cystic fibrosis are more likely to have abnormal acid neutralization during chemical clearance. Additional studies involving larger sample sizes are needed to address the importance of genotype, esophageal motility, composition and volume of saliva, and gastric acidity on acid neutralization efficiency in cystic fibrosis children.

  2. New animal models of cystic fibrosis: what are they teaching us?

    Science.gov (United States)

    Keiser, Nicholas W.; Engelhardt, John F.

    2013-01-01

    Purpose of review Cystic fibrosis is the first human genetic disease to benefit from the directed engineering of three different species of animal models (mice, pigs, and ferrets). Recent studies on the cystic fibrosis pig and ferret models are providing new information about the pathophysiology of cystic fibrosis in various organ systems. Additionally, new conditional cystic fibrosis transmembrane conductance regulator (CFTR) knockout mice are teaching unexpected lessons about CFTR function in surprising cellular locations. Comparisons between these animal models and the human condition are key to dissecting the complexities of disease pathophysiology in cystic fibrosis. Recent findings Cystic fibrosis pigs and ferrets have provided new models to study the spontaneous development of disease in the lung and pancreas, two organs that are largely spared overt spontaneous disease in cystic fibrosis mice. New cystic fibrosis mouse models are now interrogating CFTR functions involved in growth and inflammation at an organ-based level using conditional knockout technology. Together, these models are providing new insights on the human condition. Summary Basic and clinical cystic fibrosis research will benefit greatly from the comparative pathophysiology of cystic fibrosis mice, pigs, and ferrets. Both similarities and differences between these three cystic fibrosis models will inform pathophysiologically important mechanisms of CFTR function in humans and aid in the development of both organ-specific and general therapies for cystic fibrosis. PMID:21857224

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

    Science.gov (United States)

    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…

  4. Tonsils and Adenoids

    Science.gov (United States)

    ... Inquiries Find an ENT News About Us Our Campaigns Foundation Governance Diversity Honorary Awards & Lectures Employment Opportunities Renting Space Advocacy Medicare Advocacy Legislative & Political Affairs ENT PAC foundation Guidelines Patient Health Quality ...

  5. Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood.

    Science.gov (United States)

    König, Jens Christian; Titieni, Andrea; Konrad, Martin

    2018-01-01

    Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype-phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases. To tackle these challenges comprehensive scientific approaches are urgently needed that match the ongoing "revolution" in genetics and molecular biology with an improved efficacy of clinical data collection. Network for early onset cystic kidney diseases (NEOCYST) is a multidisciplinary, multicenter collaborative combining a detailed collection of clinical data with translational scientific approaches addressing the genetic, molecular, and functional background of hereditary cystic kidney diseases. Consisting of seven work packages, including an international registry as well as a biobank, NEOCYST is not only dedicated to current scientific questions, but also provides a platform for longitudinal clinical surveillance and provides precious sources for high-quality research projects and future clinical trials. Funded by the German Federal Government, the NEOCYST collaborative started in February 2016. Here, we would like to introduce the rationale, design, and objectives of the network followed by a short overview on the current state of progress.

  6. Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

    Directory of Open Access Journals (Sweden)

    Jens Christian König

    2018-02-01

    Full Text Available Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet–Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype–phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases. To tackle these challenges comprehensive scientific approaches are urgently needed that match the ongoing “revolution” in genetics and molecular biology with an improved efficacy of clinical data collection. Network for early onset cystic kidney diseases (NEOCYST is a multidisciplinary, multicenter collaborative combining a detailed collection of clinical data with translational scientific approaches addressing the genetic, molecular, and functional background of hereditary cystic kidney diseases. Consisting of seven work packages, including an international registry as well as a biobank, NEOCYST is not only dedicated to current scientific questions, but also provides a platform for longitudinal clinical surveillance and provides precious sources for high-quality research projects and future clinical trials. Funded by the German Federal Government, the NEOCYST collaborative started in February 2016. Here, we would like to introduce the rationale, design, and objectives of the network followed by a short overview on the current state of progress.

  7. Breakthrough Therapies: Cystic Fibrosis (CF) Potentiators and Correctors

    Science.gov (United States)

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

    2015-01-01

    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 is also emphasized. PMID:26097168

  8. Mechanisms of the noxious inflammatory cycle in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Freyssinet Jean-Marie

    2009-03-01

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

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

    Directory of Open Access Journals (Sweden)

    Emer P. Reeves

    2012-01-01

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

  10. Night blindness in a teenager with cystic fibrosis.

    LENUS (Irish Health Repository)

    Roddy, Marie Frances

    2011-12-01

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

  11. Cystic angiomatosis: case report and review of the literature

    International Nuclear Information System (INIS)

    Levey, D.S.; MacCormack, L.M.; Sartoris, D.J.; Haghighi, P.; Resnick, D.; Thorne, R.

    1996-01-01

    The objective of this article was to offer a better characterization of the typical clinical presentation, radiologic findings, histology, treatment approaches, and differential diagnosis of cystic angiomatosis, a rare condition of which previous reports have been confusing because of unclear diagnostic criteria, different classifications, and variations in terminology. A case report using the improved imaging techniques of computed tomography scanning is presented in additin to an analysis and review of the previous literature, which relied heavily on plain film radiography, biopsy, and necropsy for diagnosis. A case report of a 26-year-old man initially symtomatic at age 12 is presented. Although a rare condition, cystic angiomatosis must be considered in pediatric and young adult patients presenting with diffuse, multifocal, cystic skeletal lesions, with or without visceral involvement. (orig.)

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

    Science.gov (United States)

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

    2015-06-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2016-02-01

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

  15. Parental care and overprotection of children with cystic fibrosis.

    Science.gov (United States)

    Cappelli, M; McGrath, P J; MacDonald, N E; Katsanis, J; Lascelles, M

    1989-09-01

    Parental overprotection has often been clinically associated with the psychological maladjustment of children with a chronic disease. The purpose of this study was to examine parental care and overprotection in children with cystic fibrosis compared to healthy controls. Results indicated no differences in the level of parental care or overprotection between controls and children with cystic fibrosis. However, a number of significant correlations were found between parental care and overprotection and children's psychosocial functioning. In particular, positive correlations were found between parental overprotection and poor psychosocial functioning in children with cystic fibrosis, whereas, poor psychosocial functioning in healthy children was associated with lack of parental care. Parental overprotection and care appear to play important roles in the emotional and psychological functioning of healthy and chronically ill children.

  16. Management of comorbidities in older patients with cystic fibrosis.

    Science.gov (United States)

    Plant, Barry J; Goss, Christopher H; Plant, William D; Bell, Scott C

    2013-04-01

    Several key advances have been made in the treatment and management of people with cystic fibrosis in the past two decades. Substantial improvements in survival have resulted from the introduction of key drugs, coordinated care packages, improved nutritional support, and the intensive use of antibiotics. The age profile of people with cystic fibrosis has changed greatly during this time-some countries now have more adult than paediatric patients with the disease. With their increasing age and more advanced lung disease, several important sequelae (both pulmonary and extrapulmonary) occur in these adult patients including pulmonary disease, cystic fibrosis-related diabetes, renal disease, metabolic bone disease, cancers, drug allergies and toxic effects, and complications associated with lung transplantation. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Radiological diagnosis of hypernephromas in renal cysts or cystic kidneys

    International Nuclear Information System (INIS)

    Crone-Muenzebrock, W.; Brassow, F.

    1981-01-01

    The article presents the roentgenological results obtained in 12 patients with hypernephroma in a renal cyst or cystic kidneys, the hypernephroma having been identified surgically and histologically. The patients had been examined either vial IV pyelogram, sonography, computerized tomography and angiography, or with several of these methods. The renal tumor was identified with the help of sonography, computerized tomography and angiography in all cases. The IV pyelogram failed to produce a conclusive results in 2 cases. The space-occupying growth was wrongly assessed in respect of dignity because of the absence of solid tumor parts in 3 out of 5 cystic space-occupying growths via IV pyelogram, in 2 out of 4 cases via sonography and in 1 out of 4 cases via computerized tomography; these methods yielded the erroneous finding that the hypernephroma was a purely cystic space-occupying growth, whereas angiography yielded the correct diagnosis of the type of hypernephroma in 11 out of 12 patients. (orig.) [de

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

    LENUS (Irish Health Repository)

    Reeves, Emer P

    2012-01-01

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

  19. Computed tomography of cystic lung lesions; Computertomographie bei zystischen Lungenerkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Grgic, A.; Heinrich, M.; Girmann, M.; Kramann, B. [Inst. fuer Radiodiagnostik, Universitaetskliniken des Saarlandes, Homburg/Saar (Germany); Wilkens, H. [Innere Medizin V-Pneumonologie, Universitaetskliniken des Saarlandes, Homburg/Saar (Germany); Uder, M. [Inst. fuer Diagnostische Radiologie, Friedrich-Alexander-Univ. Erlangen Nuernberg (Germany)

    2004-07-01

    A cystic lesion in the lung is defined as a well-demarcated epithel-lined cavity, that can be mostly filled with air, water, as well as solid material content. This definition includes a wide variety of diseases such as bronchogenic cyst, abscess formation, lymphangioleiomyomatosis, Langerhans cell histiocytosis, emphysema, bronchiectasis, and pneumatoceles. Despite the difficulties in differential diagnosis, there are some diagnostic criteria for CT-scanning helping the radiologist to differentiate between these cystic entities. Moreover, clinical informations are extremely important. The most important clinical parameters include age, sex, clinical history and symptoms. Thus, a better understanding of classic CT appearance of cystic lung disease will allow more definitive diagnosis and could, in some cases, avoid biopsy. (orig.)

  20. Thomsen-Friedenreich (T) antigen as marker of myoepithelial and basal cells in the parotid gland, pleomorphic adenomas and adenoid cystic carcinomas. An immunohistological comparison between T and sialosyl-T antigens, alpha-smooth muscle actin and cytokeratin 14

    DEFF Research Database (Denmark)

    Therkildsen, M H; Mandel, U; Christensen, M

    1995-01-01

    Controversy centres on the role and identification of myoepithelial (MEC) and basal cells in salivary gland tumours, and recent studies suggest that both basal cells and myoepithelial cells participate in the formation of salivary gland tumours. We have correlated the expression of different well...