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Sample records for mediastinal cystic lymphangioma

  1. CT evaluation of cystic lymphangiomas of the mediastinum

    SciTech Connect

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

    1982-09-01

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

  2. Chylopericardium presenting as cardiac tamponade secondary to mediastinal lymphangioma.

    PubMed

    Alsmady, M M; Aladaileh, M A; Al-Zaben, K; Saleem, M M; Alimoglu, O

    2016-11-01

    Mediastinal lymphangioma is a rare entity and chylopericardium is a rare form of pericardial effusion. We report a case of acute chylous cardiac tamponade due to a cervicomediastinal lymphangioma in a one-year-old boy. A chest x-ray revealed marked cardiac enlargement and echocardiography showed massive pericardial effusion. Emergency surgery was performed whereby a pericardial window was created, followed by excision of the lymphangioma.

  3. Cardiac lymphangioma presenting as intrapericardial cystic mass.

    PubMed

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

    2016-01-01

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

  4. A 36-Year-Old Female with Recurrent Left Sided Pleural Effusion: A Rare Case of Mediastinal Lymphangioma

    PubMed Central

    Swarnakar, Rajesh N.; Hazarey, Jetendra D.; Dhoble, Chetan; Vaghani, Bhavesh; Ainsley, Alaine S.; Khargie, James F.; Likaj, Lorena

    2016-01-01

    Patient: Female, 36 Final Diagnosis: Mediastinal cystic hygroma Symptoms: Chest discomfort Medication: — Clinical Procedure: — Specialty: Pulmonology Objective: Unusual clinical course Background: Lymphangioma is an atypical non-malignant, lymphatic lesion that is congenital in origin. Lymphangioma is most frequently observed in the head and neck, but can occur at any location in the body. About 65% of lymphangiomas are apparent at birth, while 80–90% are diagnosed by two years of age. Occurrence in adults is rare, as evidenced by less than 100 cases of adult lymphangiomas reported in the literature. Case report: A 36-year-old Indian woman with a medical history of recurrent pleural effusions presented with chief complaints of dyspnea on exertion for one year and a low-grade fever for one month. A thorax CT revealed left-sided pleural effusion with thin internal septations. Thoracoscopy revealed a large cystic lesion arising from the mediastinum from the hilum surrounding the mediastinal great vessels. The diagnosis of lymphangioma was confirmed via histopathologic examination of the cyst. It was managed with partial cystectomy along with the use of a sclerosing agent (talc). Conclusions: The size and location of lymphangiomas can vary, with some patients presenting with serious problems like respiratory distress, while others may be asymptomatic. Complete cyst resection is the gold standard treatment for mediastinal cystic lymphangioma. Partial cyst resection along with the use of sclerosing agents can be an effective option when complete cystectomy is not possible. Although lymphangioma is a rare patient condition, it should be included in the differentials for patients presenting with pleural effusions. Also, a biopsy should be done at the earliest opportunity to differentiate lymphangioma from other mediastinal malignant tumors. PMID:27789902

  5. A Huge Cystic Retroperitoneal Lymphangioma Presenting with Back Pain

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-02-01

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

  7. Retroperitoneal Cystic Lymphangioma: A Diagnostic and Surgical Challenge

    PubMed Central

    Gümüştaş, Oguzhan Güven; Sanal, Murat; Güner, Osman; Tümay, Volkan

    2013-01-01

    A lymphangioma is a benign proliferation of lymph vessels, producing fluid-filled cysts that result from a blockage of the lymphatic system. The incidence of abdominal lymphangiomas is unknown; however they account for from 3% to 9.2% of all pediatric lymphangiomas, with retroperitoneal lymphangioma representing less than 1% of abdominal lymphangiomas. Due to rarity, preoperative diagnosis is often difficult. PMID:23533897

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

    PubMed

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

    2005-01-01

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

  9. MRI of mediastinal parathyroid cystic adenoma causing hyperparathyroidism

    SciTech Connect

    Soler, R.; Bargiela, A.; Cordido, F.; Aguilera, C.; Argueeso, R.; Cao, I.

    1996-01-01

    Primary hyperparathyroidism is a common disorder that results from an increased secretion of parathyroid hormone, most often due to a solitary and solid parathyroid adenoma usually found in the inferior group of parathyroid glands. Parathyroid gland is ectopic in approximately 10 to 20% of the cases, and the retrosternal and prevascular mediastinum is the most common location. Most mediastinal parathyroid adenomas are solid and <3 cm, but mediastinal parathyroid cysts are very uncommon and rarely cause hyperparathyroidism. We know of 18 cases of mediastinal parathyroid cysts that have been previously reported and only four of them presented with hyperparathyroidism. We report an unusual case of hyperparathyroidism due to a large cystic parathyroid adenoma located in the anterior mediastinum diagnosed by MRI. 2 refs., 1 fig.

  10. Mediastinitis

    MedlinePlus

    ... heart valve surgery, or coronary artery bypass surgery. Did You Know... A child who swallows a button ... treatment for fibrosing mediastinitis. Resources In This Article Did You Know 1 Did You Know... Pleural and ...

  11. [Mediastinitis].

    PubMed

    Martínez Vallina, Primitivo; Espinosa Jiménez, Dionisio; Hernández Pérez, Lucía; Triviño Ramírez, Ana

    2011-01-01

    Mediastinitis is defined as acute or chronic inflammation of the mediastinal structures and generally has a low incidence. The most frequent acute cause is sternotomy following cardiac revascularization surgery with both internal mammary arteries, with an incidence of 0.4% to 5% and a mortality of 16.5% to 47%. The most frequent vector is Staphylococcus aureus. Esophageal perforation, usually iatrogenic, is the second most frequent cause of acute mediastinitis, produced by common oropharyngeal flora, with a mortality rate of 20% to 60%, depending on the time of diagnosis. The third most frequent cause is descending necrotizing mediastinitis, the origin being an odontogenous focus in 60% and beta-hemolytic streptococcus the causative agent in 71.5% of cases. The most accurate diagnostic imaging technique is computed tomography. Treatment is almost always surgical and survival depends on its early performance. The worst postsurgical prognostic factor is septic shock.

  12. Mediastinitis

    MedlinePlus

    ... prevent this complication. Alternative Names Chest infection Images Respiratory system References Cheng GS, Varghese TK, Park DR. Pneumomediastinum and mediastinitis. In: Broaddus VC, Mason RJ, Ernst JD, et al, eds. Murray ... of Respiratory Medicine . 6th ed. Philadelphia, PA: Elsevier Saunders; 2016: ...

  13. Benign cystic mediastinal teratoma presenting as a massive pleural effusion in a 17-year-old boy.

    PubMed

    Montebello, Annalisa; Mizzi, Adrian; Cassar, Paul John; Cassar, Karen

    2017-01-10

    Mediastinal teratomas are a rare, albeit an important differential diagnosis of anterior/middle mediastinal masses in young adults and various atypical presentations have been reported. The authors report a case of a 17-year-old boy who presented with a 2-month history of worsening shortness of breath and pleuritic chest pain. A massive left-sided pleural fluid collection was seen on a chest radiograph (CXR). The pleural fluid was drained and a CT Thorax confirmed the presence of a cystic mass. Following re-accumulation of the fluid, thoracotomy was performed and a benign mediastinal teratoma excised. The patient remained well with no evidence of recurrence on follow-up CXRs a year post operatively.

  14. Incidental pleural-based pulmonary lymphangioma.

    PubMed

    Benninghoff, Michael G; Todd, William U; Bascom, Rebecca

    2008-09-01

    Adult benign thoracic lymphangiomas typically present as incidental mediastinal lesions, or, more rarely, as solitary pulmonary nodules. Symptomatic compression of vital structures may require lesion resection or sclerotherapy. In the present report, we describe the incidental finding of a solitary pleural-based pulmonary lymphangioma in a 38-year-old woman with chronic arm and shoulder pain. Positron emission tomography revealed that the lesion was highly fluorodeoxyglucose-avid. Biopsy exposed benign tissue consistent with lymphangioma. After continued radiographic tests, the lesion was determined to be an unlikely source of the patient's chronic pain. The present report is, to our knowledge, the first published case of solitary pleural-based pulmonary lymphangioma in the medical literature.

  15. Parotid lymphangioma associated with facial nerve paralysis.

    PubMed

    Imaizumi, Mitsuyoshi; Tani, Akiko; Ogawa, Hiroshi; Omori, Koichi

    2014-10-01

    Parotid lymphangioma is a relatively rare disease that is usually detected in infancy or early childhood, and which has typical features. Clinical reports of facial nerve paralysis caused by lymphangioma, however, are very rare. Usually, facial nerve paralysis in a child suggests malignancy. Here we report a very rare case of parotid lymphangioma associated with facial nerve paralysis. A 7-year-old boy was admitted to hospital with a rapidly enlarging mass in the left parotid region. Left peripheral-type facial nerve paralysis was also noted. Computed tomography and magnetic resonance imaging also revealed multiple cystic lesions. Open biopsy was undertaken in order to investigate the cause of the facial nerve paralysis. The histopathological findings of the excised tumor were consistent with lymphangioma. Prednisone (40 mg/day) was given in a tapering dose schedule. Facial nerve paralysis was completely cured 1 month after treatment. There has been no recurrent facial nerve paralysis for eight years.

  16. Adult Intussusception due to Cecal Lymphangioma: A Case Report

    PubMed Central

    Kim, Dong Il; Kim, Jae Hun; Kim, Hyun Sung; Jo, Hong Jae

    2011-01-01

    We present a rare case of adult intussusception due to cecal lymphangioma. A 30-year-old female was admitted to our hospital with abdominal pain and a palpatable mass on the right lower quadrant. Preoperative radiologic studies by ultrasound and computed tomography showed ileocolic intussusception with a multiseptated cystic tumor as a leading point on the cecum. An ileocecectomy was performed, and the postoperative course was uneventful. Histopathology showed a cecal lymphangioma. Although endoscopic polypectomy or endoscopic mucosal resection is recommended for pedunculated or semi-pedunculated colonic lymphangiomas less than 2 cm in size, it is proper to treat large or symptomatic colonic lymphangiomas with limited a bowel resection or a tumor resection. PMID:21602970

  17. Percutaneous Sclerotherapy Using Acetic Acid After Failure of Alcohol Ablation in an Intra-abdominal Lymphangioma

    SciTech Connect

    Park, Sang Woo Cha, In Ho; Kim, Kyeong Ah; Hong, Suk Joo; Park, Cheol Min; Chung, Hwan Hoon

    2004-09-15

    We report a case of percutaneous sclerotherapy using acetic acid in a 22-year-old woman with an intra-abdominal cystic lymphangioma who was not successfully treated with ethanol despite multiple trials.

  18. Adrenal lymphangioma: clinicopathologic and immunohistochemical characteristics of a rare lesion.

    PubMed

    Ellis, Carla L; Banerjee, Priya; Carney, Erin; Sharma, Rajni; Netto, George J

    2011-07-01

    Adrenal lymphangiomas, also known as cystic adrenal lymphangiomas, are rare, benign vascular lesions that usually remain asymptomatic throughout life. Although previously adrenal lymphangioma lesions were primarily found at autopsy, they are currently detected during imaging work-up for unrelated causes and are likely to imitate other adrenocortical or adrenal medullary neoplasms. We aimed to retrospectively review all adrenal lymphangioma cases at our hospital and further document their lymphatic origin by immunohistochemical staining. A search of surgical pathology records (1984-2008) was conducted. All hematoxylin and eosin sections were retrieved from archives and reviewed by 2 pathologists in the study. Clinical information was gathered from electronic medical records. Representative paraffin-embedded sections from each case were selected for immunohistochemical analysis using monoclonal antibodies D2-40 and AE1/AE3. A total of 9 adrenal lymphangioma cases were identified (6 women and 3 men). All 9 patients were adults at time of diagnosis with a mean age of 42 years (range, 28-56 years). There were 7 white patients, 1 African American patient, and 1 Asian patient. The average size of an adrenal lymphangioma lesion was 4.9 cm (range, 2.0-13.5 cm). Adrenal lymphangioma was twice more frequently located on the right side (6 right-sided and 3 left-sided). Clinically, 4 (44%) of the 9 lesions presented with abdominal, flank, or back pain. One lymphangioma was found during work-up for labile hypertension. The remaining 4 lesions (44%) were asymptomatic and incidentally found during imaging studies for unrelated causes. Surgical removal was achieved by total adrenalectomy in 8 of the 9 lesions and by partial adrenalectomy in the remaining case. No evidence of recurrence or development of a contralateral lesion was encountered in any of the patients. Histologically, our adrenal lymphangiomas showed a typical multicystic architecture with dilated spaces lined by

  19. Cervical Cystic Hygroma in an Adult

    PubMed Central

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

    2014-01-01

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

  20. Cystic lumphangioma of the colon

    SciTech Connect

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

    1983-10-01

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

  1. MEDIASTINAL EMPHYSEMA

    PubMed Central

    Summers, John E.

    1959-01-01

    Mediastinal emphysema may occur due to migration of air from the lungs, from the esophagus or tracheobronchial tree and from the abdomen. Of especial interest is the mechanism starting with the rupture of the perivascular alveoli due to a rapid decrease in intrathoracic pressure from any cause, the development of pulmonary interstitial emphysema and migration of the air into the mediastinum. In one case the patient had severe interstitial emphysema of the left lung, mediastinal emphysema and subcutaneous emphysema without pneumothorax and rapid improvement followed tracheotomy. In another case the patient had interstitial emphysema of the left lung that did not progress to mediastinal emphysema and subcutaneous emphysema. Pneumothorax was not present. Recovery was more rapid than in the first patient. ImagesFigure 1 (Case 1).Figure 2 (Case 1).Figure 3 (Case 1).Figure 4 (Case 1).Figure 5 (Case 1).Figure 7 (Case 2).Figure 6 (Case 2).Figure 8 (Case 2). PMID:13651959

  2. Oral lymphangioma: A rare case report

    PubMed Central

    Bhayya, Harsha; Pavani, D.; Avinash Tejasvi, M. L.; Geetha, P.

    2015-01-01

    Lymphangiomas are benign hamartomatous tumors of the lymphatic channels which present as developmental malformations arising from sequestration of lymphatic tissue that do not communicate with the rest of the lymphatic channels. Lymphatic vessels are filled with a clear protein-rich fluid containing few lymph cells. It can also occur in association with hemangioma. The onset of lymphangiomas are either at birth (60% to 70%) or up to two years of age (90%) and rare in adults. Lymphangiomas have marked predilection for the head and neck region (50-70%). The most common location in the mouth is the dorsum of tongue, followed by lips, buccal mucosa, soft palate, and floor of the mouth. On tongue, they may present as a localized or a diffused growth which may enlarge to cause macroglossia, impaired speech and difficulty in mastication. Herewith, we present a rare case of lymphangioma of tongue leading to macroglossia in a 8-year-old boy. PMID:26681873

  3. Cystic Lymhangioma of the Lesser Sac in Adult Presenting with Features of Gastric Outlet Obstruction - A Case Report

    PubMed Central

    Kumar, Sathasivam Suresh; Das, Sri Aurobindo Prasad

    2015-01-01

    Cystic lymphangioma is a paediatric benign tumour, occurs commonly in head and neck region. Adult intraabdominal lymphangiomas are uncommon and only few cases of lesser sac cystic lymphangioma are reported in the literature. We present a case of lesser sac cystic lymphangioma in a 26-year-old lady who presented with features of gastric outlet obstruction. Clinical examination revealed a 10x10 cm firm, non tender, mobile intraabdominal lump in the epigastrium. An upper gastrointestinal endoscopy showed possible external compression at the body of the stomach. Ultrasound demonstrated a multicystic lesion, with internal echoes in one locule. CECT showed a large multiloculated cystic lesion with hyper-dense content in the lesser sac extending up to the left lobe of the liver and indenting the stomach, lesser sac, and upper border of pancreas. On surgical exploration, a 10X8 cm multi cystic lesion with clear fluid was found in the lesser sac very close to the lesser curvature of stomach. Histopathological examination of the excised lesion showed features of cystic lymphangioma. Though very rare, intraabdominal cystic lymphangiomas should be considered in all atypical cases of gastric outlet obstruction. A reasonable knowledge about these benign lesions will aid in establishing the diagnosis and surgical management. PMID:26672967

  4. Peritoneal cystic mesothelioma: an electron microscopic and immunohistochemical study of two male patients.

    PubMed Central

    Sienkowski, I K; Russell, A J; Dilly, S A; Djazaeri, B

    1986-01-01

    The clinical, pathological, and ultrastructural features of two cases of peritoneal cystic mesothelioma occurring in men were studied. The results of immunohistochemical staining for CAM 5.2, epithelial membrane antigen, carcinoembryonic antigen, and Factor VIII related antigen are reported for the first time and compared with the staining results of two peritoneal cystic lymphangiomas. Although resembling cystic lymphangioma by light microscopy, cystic mesothelioma may have a greater tendency for local recurrence. Staining for CAM 5.2 or epithelial membrane antigen may facilitate the differentiation of these two entities. Images PMID:2422221

  5. Ileo-ileal intussusception caused by lymphangioma of the small bowel treated by single-incision laparoscopic-assisted ileal resection

    PubMed Central

    Kohga, Atsushi; Kawabe, Akihiro; Hasegawa, Yuto; Yajima, Kiyoshige; Okumura, Takuya; Yamashita, Kimihiro; Isogaki, Jun; Suzuki, Kenji; Komiyama, Akira

    2017-01-01

    Intraabdominal lymphangiomas are uncommon; additionally, those affecting the gastrointestinal tract are rare and account for less than 1% of cases. Intussusception caused by a cystic lymphangioma of the small bowel is extremely rare. The patient was a 20-year-old woman who visited our emergency room with a complaint of abdominal pain. A computed tomography image revealed ileo-ileal intussusception with a leading hypovascular mass measuring 1 cm in a diameter. Single-incision laparoscopic-assisted ileal resection was performed. The surgical specimen consisted of a soft polycystic mass. Macroscopically, a pedunculated polyp with a convolutional pattern was found. Microscopically, the inner surfaces of the cysts were covered with a single layer of endothelial cells. On immunohistochemical examination, the endothelial cells were partially positive for D2-40 and CD34. Smooth muscle cells were also found around the cysts. The lesion was diagnosed as a cystic lymphangioma. Dozens of cases of small bowel lymphangiomas have previously been reported. Of these, cases with intussusception were very rare. This is the first case of small bowel intussusception due to lymphangioma treated by single-incision laparoscopic-assisted surgery. PMID:28104992

  6. Lymphangioma communicating with the excretory system.

    PubMed

    Pancione, L; Giacomelli, G; Moroni, M; Taraglio, G; Mecozzi, B

    2008-03-01

    Lymphangioma is a rare benign tumor caused by failure in the development of the lymphatic communicating system. The corresponding nomenclature is confusing. In recent years ''renal lymphangiectasia'' is the preferred name. Although this disease may occur in any site of the body, the neck (75%) and axillary area (20%) are the most common sites, and the kidney is occasionally involved. We report a case of lymphangioma communicating with the urinary system in a 61-year-old man diagnosed by CT scan treated with nephrectomy and histological confirmation.

  7. Lymphangioma circumscriptum of the vulva in a patient with Noonan syndrome.

    PubMed

    Pootrakul, Llana; Nazareth, Michael R; Cheney, Richard T; Grassi, Marcelle A

    2014-06-01

    Lymphangioma circumscriptum (LC) results from the development of abnormal lymphatic vasculature and is characterized by the presence of grouped vesicles filled with clear or colored fluid. Vulvar localization is uncommon. Abnormalities of the lymphatic system, such as lymphedema and cystic hygroma, are well-known features of genetic disorders such as Noonan syndrome (NS) and Turner syndrome. We report the case of a patient with NS who presented with LC of the vulva. We also discuss the expanding spectrum of clinical anomalies associated with the presentation of NS.

  8. Cystic Hygroma in an Adult; a Case Report

    PubMed Central

    Veeraraghavan, G; Denny, C; Lingappa, A

    2009-01-01

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

  9. Lymphangioma-like Kaposi sarcoma: case report.

    PubMed

    Posada García, Celia; García-Cruz, Aranzazu; García-Doval, Ignacio; De La Torre, Carlos; Cruces, Manuel José

    2009-09-15

    Kaposi sarcoma (KS) is a multifocal vascular disease with uncertain histogenesis. It is characterized by clinical and histologic polymorphism. The "lymphangioma-like" variant is very uncommon, accounting for less than 5% of all cases. We report the case of a 76-year-old woman, HIV negative, with a 4-year history of classic Kaposi sarcoma treated with cryotherapy who developed new bullous lesions on her lower extremities. Biopsy revealed histologic findings of lymphangioma-like KS (LLKS), together with areas of classic KS; HHV-8 staining was positive. Diagnosis of LLKS was made and the patient was proposed for radiotherapy. The lymphangioma-like Kaposi sarcoma is a rare morphologic expression of KS characterized by dilated and bizarrely shaped vascular channels lined by flattened endothelium permeating the dermis. "Bulla-like" lesions have been considered as a clinical hallmark of this variant. Its histologic appearance suggests a lymphatic origin of KS and it may resemble other vascular tumors. Findings of areas of typical KS and positive staining for HHV-8 may help to make a definitive diagnosis.

  10. Scrotal Lymphangioma – A Rare Cause of Scrotal Swelling

    PubMed Central

    Nain Rattan, Kamal; S Malik, Vivek; Garsa, Vipin

    2013-01-01

    Lymphangioma is an extremely rare cause of scrotal swelling. We are reporting such a tumor in a one and half year old child presenting with a painless, progressive scrotal swelling. The mass was evaluated and excised completely. Histopathology confirmed it as Lymphangioma. PMID:23277887

  11. Lymphangioma colli--a new classification contributing to prognosis.

    PubMed

    Schuster, T; Grantzow, R; Nicolai, T

    2003-04-01

    The aim of the study was to introduce a classification of lymphangioma colli, which allows us to predict the expected morbidity and prognosis with surgical treatment. We defined 4 types, dependent on the volume of the lymphangioma as assessed by prenatal ultrasound or clinically: type I included tumors which had no or only a minimal effect on the contour of the neck; type II lymphangiomas were smaller than a line drawn at the lateral border of the head; type III tumors exceeded this line; in type IV the lymphangioma extended beyond the midline of the body. We report on the pre- and postoperative findings in 36 cases operated on between 1988 and 2000, mean follow-up was 4.2 years. 25 % of the cases were classified as type I, 36 % as type II, 22 % as type III, and 17 % as type IV. Cesarean section was carried out for 79 % of type III and IV lymphangiomas following prenatal diagnosis (71 %) and for 14 % of type I and II. MRT was indicated in 38 % of type II compared to 86 % in type III and IV lymphangiomas. Endoscopy was necessary in 25 % of type III and in 66 % of type IV lymphangiomas. In 2 cases (type I and IV), imaging revealed an intrathoracic portion. In 64 % of type I and II cases, resection was complete compared to 21 % in infants with more extended tumors. In all type IV cases, at least one further operation was required, likewise in 25 % of type III lymphangiomas. Postoperative effusion and infection occurred significantly more often in group IV than in groups I to III. 5 nerval lesions remained in children with operated type IV lymphangioma and 2 in type III cases. A visible lack of facial symmetry was evident at the follow-up examination in 83 % of type IV cases and moderate asymmetry was found in 19 % of all type I and II cases. Tracheostomy and gastrostomy were required only in type IV. The introduced classification of lymphangioma colli enables predictive statements to be made concerning the morbidity and prognosis with surgical therapy. The prognosis

  12. Cystic hygroma

    MedlinePlus

    ... Names Lymphangioma References Richards DS. Ultrasound for pregnancy dating, growth, and the diagnosis of fetal malformations. In: ... the first to achieve this important distinction for online health information and services. Learn more about A. ...

  13. [An unusual mediastinal opacity].

    PubMed

    Margery, J; Bâ-Fall, K; Rouquet, P; Rique, M; Lefebvre, N; Chevalier, B; Camara, P; Mbaye, P S; Debonne, J-M; Sané, M

    2006-12-01

    A 36-year old immunocompetent male from Senegal with an uneventful history was admitted for exploration of a bullous collection in the posterior mediastinum. Multifocal tuberculosis was diagnosed. Computed tomography-guided drainage removed 600 cc of caseum. The diagnosis as rupture of intrathoracic Pott's abscess complicated by a probably esophageal fistula. The clinical course was rapidly favorable with later development of mediastinal fibrosis. This uncommon case illustrates the contribution of interventional radiology recently developed in the Principal Hospital in Dakar, Senegal.

  14. Three cases of mediastinal pancreatic pseudocysts

    PubMed Central

    Fujihara, Yoshio; Maeda, Kazunori; Okamoto, Masaru; Yanagitani, Atsushi; Tanaka, Kiwamu; Nakamura, Kazuhiko; Ogawa, Toshihide

    2016-01-01

    A rare complication of acute or chronic pancreatitis is the formation of a mediastinal pancreatic pseudocyst (MPP), which is caused by tracking of pancreatic fluids through anatomical openings of the diaphragm into the mediastinum. Herein, we report the imaging characteristics of three cases of this condition. Our results revealed three features in common: (i) the connection between the mediastinum and the pancreatic cystic lesion; (ii) the presence of pleural effusions; and (iii) imaging findings consistent with chronic pancreatitis, such as pancreatic atrophy and calcifications and dilatation and/or stricture of main pancreatic duct (MPD). Serial diameter changes of the MPD and of the adjacent pseudocysts were necessary for the determination of the therapeutic strategy used in each case. PMID:27330827

  15. Minimally invasive mediastinal surgery

    PubMed Central

    Melfi, Franca M. A.; Mussi, Alfredo

    2016-01-01

    In the past, mediastinal surgery was associated with the necessity of a maximum exposure, which was accomplished through various approaches. In the early 1990s, many surgical fields, including thoracic surgery, observed the development of minimally invasive techniques. These included video-assisted thoracic surgery (VATS), which confers clear advantages over an open approach, such as less trauma, short hospital stay, increased cosmetic results and preservation of lung function. However, VATS is associated with several disadvantages. For this reason, it is not routinely performed for resection of mediastinal mass lesions, especially those located in the anterior mediastinum, a tiny and remote space that contains vital structures at risk of injury. Robotic systems can overcome the limits of VATS, offering three-dimensional (3D) vision and wristed instrumentations, and are being increasingly used. With regards to thymectomy for myasthenia gravis (MG), unilateral and bilateral VATS approaches have demonstrated good long-term neurologic results with low complication rates. Nevertheless, some authors still advocate the necessity of maximum exposure, especially when considering the distribution of normal and ectopic thymic tissue. In recent studies, the robotic approach has shown to provide similar neurological outcomes when compared to transsternal and VATS approaches, and is associated with a low morbidity. Importantly, through a unilateral robotic technique, it is possible to dissect and remove at least the same amount of mediastinal fat tissue. Preliminary results on early-stage thymomatous disease indicated that minimally invasive approaches are safe and feasible, with a low rate of pleural recurrence, underlining the necessity of a “no-touch” technique. However, especially for thymomatous disease characterized by an indolent nature, further studies with long follow-up period are necessary in order to assess oncologic and neurologic results through minimally

  16. Fibrosing mediastinitis mimicking bronchogenic carcinoma

    PubMed Central

    Bayiz, Hulya; Mutluay, Neslihan; Koyuncu, Adem; Demirag, Funda; Dagli, Gulfidan; Berktas, Bahadir; Berkoglu, Mine

    2013-01-01

    Fibrosing mediastinitis is a rare but benign disorder characterized by an excessive fibrotic reaction in the mediastinum which can result in compromise of airways, great vessels, and other mediastinal structures. In this paper we presented a patient with fibrosing mediastinitis mimicking bronchogenic carcinoma. The patient was a 32-year-old diabetic male admitting with cough and hemoptysis. There was a right hilar mass and multiple mediastinal conglomerated lymph nodes on chest computed tomography. Positron emission tomography with computed tomography (PET/CT) scan demonstrated increased fluorodeoxyglucose (FDG) uptake at the right hilar mass lesion and mediastinal lymph nodes. Fiberoptic bronchoscopy showed mucosal distortion of right upper lobe. Pathologic examination of the mucosal biopsy revealed inflammation. Endobronchial ultrasound guided transbronchial needle and cervical mediastinoscopic lymph node biopsies were undiagnostic. Diagnostic thoracotomy confirmed the diagnosis fibrosing mediastinitis. Administration of six months of systemic corticosteroid and antituberculous therapy was not beneficial. In conclusion, despite being a rare clinical entity, fibrosing mediastinitis should be kept in mind in the differential diagnosis of mediastinal mass lesions of unknown etiology. The diagnosis is exceptionally difficult in the presence of atypical radiological findings. The treatment is particularly challenging without any proven effective therapy. PMID:23372962

  17. An Unusual Origin of Fetal Lymphangioma Filling Right Axilla.

    PubMed

    Ersoy, Ali Ozgur; Oztas, Efser; Saridogan, Erdinc; Ozler, Sibel; Danisman, Nuri

    2016-03-01

    Fetal lymphangioma is a hamartomatous congenital anomaly of the lymphatic system, which is embracing the fetal skin (sometimes mucous membranes) and the subcutaneous tissue. The general consensus is that it occurs as a result of failure in lymphatic drainage. A 36-year-old pregnant woman was referred to our perinatology clinic at 22 weeks' gestation, because of a fetal right-sided axillary mass revealed by ultrasonography. The mass measuring 5x7x7cm in three dimensions had a multilocular structure without colour Doppler flow and well-circumscribed borders. Amniocentesis revealed a normal constitutional karyotyping. Lymphangioma was considered as prediagnosis. A healthy female baby weighing 3470 grams was delivered at term. Neonatal examination and the postnatal MRI confirmed the diagnosis. The baby is still on follow-up with the medical treatment of Sirolimus an anti-proliferative drug, and the mass got smaller significantly in 8 months after delivery.

  18. CO2 laser ablation of lymphangioma circumscriptum of the scrotum.

    PubMed

    Treharne, Linda J; Murison, Maxwell S C

    2006-01-01

    Lymphangioma circumscriptum (LC) is an uncommon skin condition characterized by large muscular-coated lymphatic cisterns that lie deep with in the subcutaneous tissue and communicate with dilated dermal lymphatics. Patients suffer from edema and lymphatic leakage. Surgical excision and reconstruction is the gold standard for therapy. However, this can be mutilating. The authors present a patient who suffered widespread disease of his scrotum who had excellent symptomatic relief by treatment with the CO(2) laser.

  19. High-grade squamous intraepithelial lesion arising adjacent to vulvar lymphangioma circumscriptum: a tertiary institutional experience

    PubMed Central

    Bae, Go Eun; Yoon, Gun; Song, Yong Jung; Kim, Hyun-Soo

    2016-01-01

    Lymphangioma circumscriptum of the vulva occurs in patients who have undergone radical hysterectomy, lymph node dissection, or radiation therapy for management of advanced uterine cancer. Since vulvar lymphangioma circumscriptum typically presents as multiple, grossly verrucous vesicles of various sizes, it may be impossible to clinically distinguish vulvar lymphangioma circumscriptum from other vulvoperineal cutaneous diseases. In the present study, 16 (1.6%) out of the 1,024 vulvar biopsy or excision specimens were diagnosed as lymphangioma circumscriptum. In two (12.5%) out of the 16 cases, unusual histopathological findings were observed. Both patients had previously undergone radical hysterectomy with lymph node dissection and postoperative radiation therapy or concurrent chemoradiation therapy for advanced cervical cancer. Microscopic examination revealed high-grade squamous intraepithelial lesions, which were located immediately adjacent to the normal squamous epithelium covering the dilated subepithelial lymphatic vessels. Further, human papillomavirus genotyping confirmed that both patients were infected with high-risk human papillomavirus. High-grade squamous intraepithelial lesion cannot be grossly distinguished from vulvar lymphangioma circumscriptum because the multiple, verrucous vesicles that constitute the characteristic gross appearance of vulvar lymphangioma circumscriptum hinder its distinction. In this regard, our cases of high-grade squamous intraepithelial lesion, located adjacent to vulvar lymphangioma circumscriptum, support the notion that active surgical excision is necessary for the treatment of vulvar lymphangioma circumscriptum. PMID:27329721

  20. Endoscopic ultrasound in mediastinal tuberculosis

    PubMed Central

    Sharma, Malay; Ecka, Ruth Shifa; Somasundaram, Aravindh; Shoukat, Abid; Kirnake, Vijendra

    2016-01-01

    Background: Tubercular lymphadenitis is the commonest extra pulmonary manifestation in cervical and mediastinal locations. Normal characteristics of lymph nodes (LN) have been described on ultrasonography as well as by Endoscopic Ultrasound. Many ultrasonic features have been described for evaluation of mediastinal lymph nodes. The inter and intraobserver agreement of the endosonographic features have not been uniformly established. Methods and Results: A total of 266 patients underwent endoscopic ultrasound guided fine needle aspiration and 134 cases were diagnosed as mediastinal tuberculosis. The endoscopic ultrasound location and features of these lymph nodes are described. Conclusion: Our series demonstrates the utility of endoscopic ultrasound guided fine needle aspiration as the investigation of choice for diagnosis of mediastinal tuberculosis and also describes various endoscopic ultrasound features of such nodes. PMID:27051097

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

    PubMed

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

    2014-01-01

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

  2. Pulmonary Hypertension Complicating Fibrosing Mediastinitis

    PubMed Central

    Seferian, Andrei; Steriade, Alexandru; Jaïs, Xavier; Planché, Olivier; Savale, Laurent; Parent, Florence; Amar, David; Jovan, Roland; Fadel, Elie; Sitbon, Olivier; Simonneau, Gérald; Humbert, Marc; Montani, David

    2015-01-01

    Abstract Fibrosing mediastinitis is caused by a proliferation of fibrous tissue in the mediastinum with encasement of mediastinal viscera and compression of mediastinal bronchovascular structures. Pulmonary hypertension (PH) is a severe complication of fibrosing mediastinitis caused by extrinsic compression of the pulmonary arteries and/or veins. We have conducted a retrospective observational study reviewing clinical, functional, hemodynamic, radiological characteristics, and outcome of 27 consecutive cases of PH associated with fibrosing mediastinitis diagnosed between 2003 and 2014 at the French Referral Centre for PH. Fourteen men and 13 women with a median age of 60 years (range 18–84) had PH confirmed on right heart catheterization. The causes of fibrosing mediastinitis were sarcoidosis (n = 13), tuberculosis-infection confirmed or suspected (n = 9), mediastinal irradiation (n = 2), and idiopathic (n = 3). Sixteen patients (59%) were in NYHA functional class III and IV. Right heart catheterization confirmed moderate to severe PH with a median mean pulmonary artery pressure of 42 mm Hg (range 27–90) and a median cardiac index of 2.8 L/min/m2 (range 1.6–4.3). Precapillary PH was found in 22 patients, postcapillary PH in 2, and combined postcapillary and precapillary PH in 3. Severe extrinsic compression of pulmonary arteries (>60% reduction in diameter) was evidenced in 2, 8, and 12 patients at the main, lobar, or segmental levels, respectively. Fourteen patients had at least one severe pulmonary venous compression with associated pleural effusion in 6 of them. PAH therapy was initiated in 7 patients and corticosteroid therapy (0.5–1 mg/kg/day) was initiated in 3 patients with sarcoidosis, with 9 other being already on low-dose corticosteroids. At 1-year follow-up, 3 patients had died and among the 21 patients evaluated, 3 deteriorated, 14 were stable, and only 4 patients with sarcoidosis improved (4 receiving corticosteroids and 1

  3. [OK-432 therapy for cervicofacial lymphangioma in adults].

    PubMed

    Peral Cagigal, Beatriz; Serrat Soto, Alberto; Calero, Hermógenes; Verrier Hernández, Alberto

    2007-05-01

    The treatment of cervicofacial lymphangiomas has been changing in recent years. OK-432 appears to be a relatively safe and effective treatment option for patients of all ages. An intracystic injection of OK-432 produces a local inflammatory reaction, leading to resolution of the lesion. Cosmetically, the outcome is excellent, leaving no lesions on the skin at the injection site, unlike other sclerosing agents. It may thus be considered as the treatment of choice, especially in cases where surgical treatment is associated with the possibility of serious functional or cosmetic side effects.

  4. Cystic Lesions of the Mediastinum.

    PubMed

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

    2016-06-01

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

  5. Lymphangioma of the Tongue - A Case Report and Review of Literature

    PubMed Central

    V, Usha; Sivasankari, T.; Jeelani, S.; Parthiban, J.

    2014-01-01

    Lymphangiomas are benign tumours resulting from a congenital malformation of the lymphatic system. They are relatively uncommon and usually diagnosed in infancy and early childhood. Commonly located at head and neck, they rarely occur in the oral cavity. Intraoral lymphangiomas occur more frequently on the dorsum of tongue, followed by palate, buccal mucosa, gingiva, and lips. Lymphangioma of the tongue is a common cause of macroglossia in children associated with difficulty in swallowing and mastication, speech disturbances, airway obstruction, mandibular prognathism, openbite and other possible deformities of maxillofacial structures. We present the case of a 13-year-old female with lymphangioma of tongue. The clinical, radiological, and treatment modalities of this case are discussed. PMID:25386537

  6. Conjunctival Lymphangioma: A Case Report and Brief Review of the Literature

    PubMed Central

    Seca, Mariana; Borges, Pedro; Reimão, Pedro; Gomes, Miguel; Meireles, Angelina

    2012-01-01

    Background. Lymphangioma is a rare venolymphatic lesion, characterized by dilation of lymphatic vessels. It may occur as an isolated lesion or, more often, represent the surface component of a deep orbital lymphangioma. Case. We report a case of a conjunctival lymphangioma on a 58-year-old male that had simultaneously an upper respiratory tract infection. Excision and biopsy confirmed the nature of the lesion, and there has been no relapse to date. Conclusion. Conjunctival lymphangioma is a rare condition in which the diagnose, must be kept in mind in patients with a red eye resistance to topical therapy and in association with an upper respiratory tract infection. Finally, it is also necessary to be aware of possible recurrence of the lesion. PMID:22666617

  7. Vulvar lymphangioma circumscriptum: a rare complication of therapy for squamous cell carcinoma of the cervix

    SciTech Connect

    LaPolla, J.; Foucar, E.; Leshin, B.; Whitaker, D.; Anderson, B.

    1985-11-01

    The clinical and pathological features of a case of multifocal lymphangioma circumscriptum of the vulva are reported in a patient with chronic lymphedema of a lower extremity. Ten years previously the patient had been treated for squamous cell carcinoma of the cervix. Although lymphangioma circumscriptum is an extremely rare complication of altered lymphatic drainage, the presence of multiple noninflammatory vesicular appearing lesions in this setting should suggest the correct diagnosis.

  8. Combined mediastinal and retroperitoneal fibrosis

    PubMed Central

    Salmon, H. W.

    1968-01-01

    A case of combined idiopathic mediastinal fibrosis and retroperitoneal fibrosis is described. It is possibly the twelfth case to be reported during life. A review of the literature reveals the `ubiquity' of localized collagenosis and the trend of opinion as regards aetiology and treatment. Images PMID:5654073

  9. PSMA Uptake in Mediastinal Sarcoidosis.

    PubMed

    Ardies, Philip Junior; Gykiere, Pieterjan; Goethals, Lode; De Mey, Johan; De Geeter, Frank; Everaert, Hendrik

    2017-04-01

    Prostate-specific membrane antigen (PSMA) is a cell surface glycoprotein which is frequently overexpressed on prostate cancer cells. Ga-PSMA PET/CT plays an increasing role in prostate cancer management. However, growing evidence suggests increased PSMA uptake in a variety of other malignant tumor entities and in some benign lesions. This report describes PSMA uptake in numerous thoracic lymph nodes in a patient with known mediastinal sarcoidosis. Knowledge and recognition of these possibilities are important to avoid scan misinterpretation.

  10. Mediastinal granuloma: a rare cause of dysphagia.

    PubMed

    Micic, Dejan; Hogarth, Douglas Kyle; Kavitt, Robert T

    2016-06-14

    Dysphagia is commonly attributed to disorders arising from dysfunction of the oesophageal mucosa or oesophageal motility. Mediastinal structures causing compression of the oesophagus remain a rare presenting cause of dysphagia. We report a case of a woman presenting with dysphagia to solid foods and associated symptoms of weight loss. Traditional evaluation for dysphagia was unrevealing until cross-sectional imaging suggested a mediastinal obstructive process. The finding of a mediastinal granuloma, distinct from mediastinal fibrosis, as the aetiology of dysphagia is a rare finding, with specific treatment implications. The patient was treated with itraconazole antifungal therapy with an improvement in her symptoms.

  11. Postoperative radiotherapy for residual tumor of primary mediastinal carcinoid teratoma

    PubMed Central

    Tu, Lingli; Sun, Lan; Zhou, Yu; Gong, Youling; Xue, Jianxin; Gao, Jun; Lu, You

    2013-01-01

    A 36-year-old woman had presented with dry cough for 2 months. Thoracic computed tomography (CT) scan showed a 12 cm × 8 cm ×5 cm mass in the anterior mediastinum. Due to intimately involving the aortic arch, tumor was removed incompletely. Residual tumor remained approximate 2 cm × 3 cm × 4 cm. Histologic diagnosis was a mature cystic teratoma containing a carcinoid. Subsequently, radiotherapy (RT) was administrated on residual tumor for a total dose of 50 Gy at 2 Gy/d fraction in 25 fractions. At 2-year follow-up, the patient had stable disease. In conclusion, adjuvant radiotherapy with 50 Gy is an effective approach for residual tumor of mediastinal carcinoid teratoma. PMID:23585961

  12. Optimal treatment of descending necrotising mediastinitis

    PubMed Central

    Corsten, M. J.; Shamji, F. M.; Odell, P. F.; Frederico, J. A.; Laframboise, G. G.; Reid, K. R.; Vallieres, E.; Matzinger, F.

    1997-01-01

    BACKGROUND: Descending necrotising mediastinitis is caused by downward spread of neck infection and has a high fatality rate of 31%. The seriousness of this infection is caused by the absence of barriers in the contiguous fascial planes of neck and mediastinum. METHODS: The recent successful treatment of seven adult patients with descending necrotising mediastinitis emphasises the importance of optimal early drainage of both neck and mediastinum and prolonged antibiotic therapy. The case is also presented of a child with descending necrotising mediastinitis, demonstrating the rapidity with which the infection can develop and lead to death. Twenty four case reports and 12 series of adult patients with descending necrotising mediastinitis published since 1970 were reviewed with meta-analysis. In each case of confirmed descending necrotising mediastinitis the method of surgical drainage (cervical, mediastinal, or none) and the survival outcome (discharge home or death) were noted. The chi 2 test of statistical significance was used to detect a difference between cases treated with cervical drainage alone and cases where mediastinal drainage was added. RESULTS: Cervical drainage alone was often insufficient to control the infection with a fatality rate of 47% compared with 19% when mediastinal drainage was added (p < 0.05). CONCLUSIONS: Early combined drainage with neck and chest incisions, together with broad spectrum intravenous antibiotics, should be considered standard care for this disease. 


 PMID:9337829

  13. Cystic Fibrosis

    MedlinePlus

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

  14. Cystic fibrosis - resources

    MedlinePlus

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

  15. Huge Lymphangioma of the Esophagus Resected by Endoscopic Piecemeal Mucosal Resection

    PubMed Central

    Ye, Liping; Wu, Weidan; Zheng, Haihong

    2017-01-01

    We present an unusual case of a 41-year-old male patient with a large lymphangioma of the esophagus. Endoscopy revealed that the structure measured 60 × 10 mm in the mucosa and the submucosa and had a heterogenous echo pattern. The esophageal mass was successfully resected by endoscopic piecemeal mucosal resection. However, most esophageal lymphangiomas that are larger than 2 cm in diameter reported in the literature can be removed only through open surgery. Thus far, we know of no reported cases of endoscopic resection as a treatment for this case.

  16. [Giant compressive mediastinal lipoma: a case report].

    PubMed

    Ndiaye, As; Diarra, O; Diop, A N; Ciss, A G; Dieng, P A; Dangou, J M; Ndiaye, M

    2006-01-01

    Mediastinal lipoma is a rare mesenchymatous fatty tumor in child. Usually asymptomatic, it can cause asphyxiation. The authors report the case of an 18 month-baby-girl referred to us by the pediatric department for asphyxiation. The chest X ray was evocative of a mediastinal tumor. A sudden cardiorespiratory failure leads us to perform thoracotomy. A fatty tumor was found compressing the heart and the left lung. It was easily extirpated. The postoperative recovery was uneventful. Light microscopy showed a lipoma. This compressive form shows the severity of the mediastinal lipoma when it reaches a large size. The literature on this rare pathology is reviewed.

  17. Mediastinal impalement with a fibreglass sheet

    PubMed Central

    Wimalachandra, Welege Samantha Buddhika; Asmat, Atasha

    2014-01-01

    Mediastinal impalement injuries are uncommon and often fatal. There have been very few reported cases of survival following mediastinal impalement. Patients who present with these injuries always undergo operative intervention regardless of their underlying haemodynamic status or associated injuries. We herein present a case of mediastinal impalement injury, where a sheet of fibreglass had fractured the manubrium and entered thffige anterior mediastinum with no associated great vessel injury. The fibreglass sheet was removed via a partial sternotomy and the patient made an uneventful postoperative recovery. PMID:25273944

  18. Endoscopic ultrasound in the diagnosis of mediastinal diseases

    PubMed Central

    Wang, Zhiguo; Jiang, Chunmeng

    2015-01-01

    EUS is a useful tool for diagnosis of mediastinal diseases. EUS-FNA plays an important role in staging of lung cancer and in tissue acquisition in patients with mediastinal masses. In this review, the following issues will be addressed: EUS-FNA and EBUS-TBNA, metastatic mediastinal lymph nodes diagnosed by EUS, EUS in assessment of mediastinal lymph node status for staging of lung cancer, mediastinal lymphoma diagnosed by EUS, sarcoidosis and tuberculosis diagnosed by EUS. PMID:28352755

  19. Pyopneumopericardium caused by mediastinal granuloma.

    PubMed

    Gula, Lorne J; Malthaner, Richard A; Quantz, Mackenzie A

    2002-07-01

    We report the case of a previously healthy 32-year-old man who was seen with flulike symptoms, dyspnea, and chest pain. The diagnosis was pyopneumopericardium, and pericardial tap revealed 1.3 L of purulent material. Computed tomography of the chest demonstrated a calcified mass inferior to the carina. Urgent exploration through a right thoracotomy revealed that the mass was adherent to the esophagus and pericardium. The subcarinal mass was resected. Pathological study demonstrated granulomatous lymph nodes, which were likely due to histoplasmosis. This is among the first reports of granulomatous erosion into the pericardium causing pyopneumopericardium. The patient made a good recovery, and his case demonstrates the importance of early imaging and mediastinal exploration for pyopneumopericardium.

  20. A case of HPV and acquired genital lymphangioma: over-lapping clinical features.

    PubMed

    Cestaro, Giovanni; De Rosa, Michele; Gentile, Maurizio; Massa, Salvatore

    2015-03-25

    Lymphatic malformation or lymphangioma is a benign proliferation of the lymphatics accounting for 4% of all vascular malformations and 26% of all benign vascular tumors. There are several reports about genital lymphangiomas mimicking venereal lesions, such as genital warts. Hereby we described a case of a 24 year old man affected by multiple vesicles and warts in genital area. All hematological and biochemical parameters, Human Immunodeficiency Virus (HIV) and Treponema Pallidum tests, C1-Inhibitor and C1-Q values were within limits. An accurate fulguration and wide excision of bigger lesions were performed. Histological examination showed numerous dilated lymphatic vessels in the superficial dermis with infiltration of inflammatory cells, that is a histopathological picture compatible with genital lymphangioma. Considering our clinical suspicion of condylomatosis, HPV (Human Papilloma Virus) Polimerase Chain Reaction (PCR) Genotyping, named INNOLiPA test, was performed, that revealed a genital infection by HPV - genotype 6. We think that our case can be considered an example of HPV infection and acquired genital lymphangioma overlap clinical syndrome. The patient presented any lesions one year after the procedure at follow-up examination.

  1. Videothoracoscopy in the treatment of mediastinal cysts

    PubMed Central

    Brzeziński, Daniel; Kozak, Józef

    2014-01-01

    Introduction Progress in the development of surgical techniques has led to the growing use of video-assisted thoracoscopic surgery (VATS) techniques in mediastinal cyst treatment. Aim To present our experience of treating mediastinal cysts with the minimally invasive technique. Material and methods Fifty patients with mediastinal cysts were treated from 2001 to 2011. There were 32 women and 18 men. The age of the patients ranged from 17 to 72, the mean age being 42 years. All patients underwent basic preoperative diagnostic tests of the chest: X-ray, computed tomography (CT), bronchoscopy and spirometry; 4 patients underwent endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and 3 fine needle aspiration biopsy (FNAB) of the described lesions. Results The VATS was performed in each case. Conversion was carried out due to superior mediastinal location in 10 cases and pleural adhesions in 3 cases. The partial resection of a cyst was performed in 3 patients. One patient was treated conservatively due to heart failure. In that patient the transthoracic needle aspiration of a cyst under ultrasound guidance using alcoholisation with 76% ethanol with a good effect was performed twice. Cyst recurrence was observed in 1 case. Conclusions The surgical access depends on the location of a cyst. The VATS resection of a superior mediastinal cyst is not always feasible. Surgery of mediastinal cysts is both diagnostic and curative. PMID:25337163

  2. [Clinical characteristics and prognosis of mediastinal fibrosis].

    PubMed

    Liao, J P; Hu, Y; Qiu, J X; Jin, Z; Zhang, H; Ma, J; Wang, G F

    2017-03-12

    Objective: To investigate the clinical characteristics and prognosis of mediastinal fibrosis. Methods: Twelve patients with mediastinal fibrosis diagnosed between 2008 and 2015 in our hospital were studied retrospectively. Clinical manifestations, radiological characteristics, endoscopic features, treatment and prognosis were analyzed. Results: There were 3 males and 9 females, with a mean age of 68.8 years.Six patients had previous tuberculosis infection. The most common clinical symptoms were dyspnea on exertion (11 cases), cough (7 cases), and wheezing (6 cases). Chest CT scans revealed an infiltrative mediastinal process, with a discrete mass, enlargement of mediastinal lymph nodes, mediastinal lymph node calcification (9 case). Twelve patients had bronchial and pulmonary artery compression at lobar or segmental levels, 7 cases had localized pulmonary edema, and 6 cases had pulmonary atelectasis. The principal findings of bronchoscopy were distortion of bronchus with stenosis, multiple pigmentation of bronchial mucosa, and bronchial mucosal edema. Pulmonary hypertension (PH) was the main severe complication. One patients suffered from sudden death after bronchoscopy. Eleven patients were followed for 3 month to 7 years, and 5 patients got progression. Anti-tuberculosis therapy with or without corticosteroid was not beneficial. Conclusion: Tuberculosis was the leading cause of mediastinal fibrosis in our study, which was characterized with diffuse bronchial and pulmonary artery compression at lobar or segmental levels, and multiple pigmentation of bronchial mucosa.Anti-tuberculosis therapy with or without corticosteroids was not beneficial.

  3. Mediastinal lymph node size in lung cancer

    SciTech Connect

    Libshitz, H.I.; McKenna, R.J. Jr.

    1984-10-01

    Using a size criterion of 1 cm or greater as evidence for abnormality, the size of mediastinal lymph nodes identified by computed tomography (CT) was a poor predictor of mediastinal lymph node metastases in a series of 86 patients who had surgery for bronchogenic carcinoma. The surgery included full nodal sampling in all patients. Of the 86 patients, 36 had nodes greater than or equal to 1 cm identified by CT. Of the 21 patients with mediastinal metastases proven at surgery, 14 had nodes greater than or equal to 1 cm (sensitivity = 67%). Of the 65 patients without mediastinal metastases, 22 had nodes greater than or equal to 1 cm. Obstructive pneumonia and/or pulmonary collapse distal to the cancer was present in 39 patients (45%). Obstructive pneumonia and/or pulmonary collapse is a common occurrence in bronchogenic carcinoma, but mediastinal nodes greater than or equal to 1 cm in this circumstance cannot be presumed to represent metastatic disease. Metastatic mediastinal lymph node involvement was related to nodal size also in patients with evidence of prior granulomatous disease and in patients with no putative benign cause for nodes greater than or equal to 1 cm.

  4. Prenatal diagnosis of a giant foetal lymphangioma and haemangiolymphoma in the second trimester using 2D and 3D ultrasound.

    PubMed

    Mittermayer, C; Blaicher, W; Deutinger, J; Bernaschek, G; Lee, A

    2003-12-01

    Lymphangiomas are benign tumours of the lymphatic system. Early prenatal diagnosis is important to permit a planned delivery and provide adequate postnatal care. It thereby improves prognosis and allows the option of terminating the pregnancy if poor outcome is predicted. We report two cases, a giant haemangiolymphoma and a lymphangioma. 2D and 3D US findings are presented and differential diagnosis, therapeutic options and prognosis are discussed.

  5. Acquired Cystic Kidney Disease

    MedlinePlus

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

  6. Mediastinal pathology and the contributions of Dr. Juan Rosai.

    PubMed

    Wick, Mark R

    2016-09-01

    Dr. Juan Rosai is one of the most prolific contributors to the literature on mediastinal pathology, and he has added steadily to that body of work over a 50-year period. Rosai has written several landmark articles in this topical area, including articles on thymic epithelial lesions, mediastinal neuroendocrine tumors, mediastinal lymphoma and other hematopoietic lesions, thymolipoma, thymoliposarcoma, mediastinal solitary fibrous tumor, intrathymic langerhans-cell histiocytosis, mediastinal germ cell neoplasms, and multilocular thymic cyst. This review recounts his role as one of the principal figures in the surgical pathology of mediastinal diseases.

  7. What Causes Cystic Fibrosis?

    MedlinePlus

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

  8. Pleuropulmonary blastoma in a young adult presenting as a ruptured cystic teratoma in radiology.

    PubMed Central

    Lee, Chang Hun; Kim, Keun Il; Kim, Young Dae; Lee, Min Ki; Kim, Jee Yeon; Park, Do Youn; Sol, Mee Young; Suh, Kang Suek

    2003-01-01

    Pleuropulmonary blastoma (PPB) is a rare malignant dysontogenetic neoplasm primarily affecting children and is characterized histologically by a variably mixed blastematous and sarcomatous patterns. We herein report a very exceptional adult case of PPB. A 21-yr-old male patient presented with a left chest pain of two weeks' duration. A computed tomography scan revealed a large, multicystic tumor occupying the left lower hemithorax, leading to the impression of a ruptured mediastinal cystic teratoma. A thoracotomy for resection of the tumor was performed. On histologic examination, the tumor consisted of cystic walls and associated solid lesions which showed undifferentiated blastemal tissues with focal fibrosarcomatous and rhabdoid features. Immunohistochemically the tumor cells only showed diffuse strong positivity for vimentin. The histologic findings corresponded to a type II PPB. The authors suggest that PPB, especially of type I or II, should be included in the radiologic differential diagnosis of mediastinal cystic neoplasms in a young adult. PMID:12923341

  9. Extramedullary plasmacytoma presenting as a mediastinal mass.

    PubMed

    Shukla, Arpana; Bansal, Vivek; Bhutani, Ritu; Kumar, Gaurav; Sharma, Jai; Solanki, Surinder; Mehta, Anurag

    2011-09-05

    Extramedullary plasmacytoma (EMP) is a plasma cell neoplasm without bone marrow involvement or other systemic characteristics of multiple myeloma. Few large-scale clinical studies have been conducted because of the rarity of EMP, especially when it arises from the mediastinum. Herein we report a rare case of solitary mediastinal plasmacytoma with reactive pleural effusion. A 58-year-old female presented with grade 4 dyspnea and dysphagia, with a mediastinal mass observed with on PET. CT-guided biopsy results were suggestive of IgG kappa-type EMP arising from the anterior mediastinum. The patient was treated with local radiotherapy to the mediastinum, and had clinical and radiological response s were good. Radiotherapy is an effective treatment for mediastinal EMP, but a complete workup is mandatory, including PET, as the majority of such masses coexist with multiple myeloma.

  10. Diagnostic imaging in mediastinal thyroid tumor

    SciTech Connect

    Shih, W.J.; Cho, S.R.; Purcell, M.; Tsung-Yao, H.; Domstad, P.A.; Liu, C.I.; DeLand, F.H.

    1984-12-01

    Various diagnostic imagings in nine patients with mediastinal goiters were presented. The clinical manifestations of these patients were various, from totally asymptomatic to severe dyspnea. Six of the nine patients underwent surgical intervention, three were follicular adenomas and three were nodular goiters. A chest radiograph (positive in seven out of nine patients) provided the most valuable initial localization of a goiter mass to the anterior, middle, or posterior compartment. Esophagograms (performed in four patients) showed compression of esophagus by the mediastinal mass. I-131 scintigraphy (performed in seven patients) was capable of detection of functional (in three patients) vs nonfunctional status of thyroid status (in four patients). Angiography (performed in five patients), characterized by anatomic continuity with cervical thyroid gland, calcifications, well-defined border of masses and/or contrast enhancement, offered important roles to direct a diagnosis of intrathoracic goiter. The computed tomography becomes increasingly important because all mediastinal goiters are not radioiodine avid.

  11. Adult intussusception secondary to lymphangioma of the cecum: a case report.

    PubMed

    Chen, Chin-Fan; Chuang, Chieh-Han; Lu, Chien-Yu; Hu, Ching; Kuo, Ting-Lu; Hsieh, Jan-Sing

    2009-06-01

    We report the case of a patient with ileocolic intussusception caused by cecal lymphangioma. A 45-year-old man visited our hospital with a 2-month history of frequent episodes of watery diarrhea (>/= 5 times/day) and intermittent abdominal pain. A cecal submucosal tumor with mucosal ulceration and partial obstruction of the colonic lumen was identified by colonoscopy. He was admitted to our hospital 2 days later due to aggravation of his abdominal pain. Physical examination revealed tenderness over the right abdomen with no peritoneal signs. A double-contrast lower gastrointestinal series showed a right-side colonic lesion with indentation and a peripheral, beak-like sign. Abdominal computed tomography scanning revealed an intra-abdominal mass with the characteristic sausage sign, highly suggestive of intussusception. The patient subsequently underwent right hemicolectomy. The final diagnosis was ileocolic intussusception with cecal lymphangioma, which was confirmed by histopathology. He had an uneventful recovery with follow-up in our hospital. This case highlights the possibility of colonic lymphangioma as the leading point of adult intussusception, and this should be taken into consideration as a possible diagnosis in this uncommon clinical condition.

  12. Cryotherapy for massive vulvar lymphatic leakage complicated with lymphangiomas following gynecological cancer treatment.

    PubMed

    Yanazume, Shintaro; Douzono, Haruhiko; Kubo, Hidemichi; Nagata, Tomomi; Douchi, Tsutomu; Kobayashi, Hiroaki

    2014-11-01

    Vulvar lymphatic leakage is a severe complication associated with gynecological cancer treatments. However, standard treatment strategies have not yet been determined. We encountered a rare case of a 76-year-old multiparous woman suffering from massive lymphatic fluid leakage from the entire vulva, and papules developed and were identified as lymphangiomas. A large amount of straw-colored discharge continued from all vulvar papules, which extended over the mons pubis. Nine years ago, the patient had undergone a radical hysterectomy with concurrent chemoradiation for uterine cervical cancer treatment. Her serum albumin level was 1.9 mg/dl, which was attributed to the loss of a large amount of lymph fluid due to leakage from the vulva. Her quality of life gradually decreased because of general fatigue and the need for frequent diaper exchanges every 2 h. The patient received a less-invasive treatment with cryotherapy using liquid nitrogen. She also received a multimodality treatment consisting of the intravenous administration of albumin, massage of the lower limbs and intensive rehabilitation. Cryotherapy was administered once a week for 3 months. Her discharge almost stopped and vulvar lymphangiomas decreased without any major complications. To the best of our knowledge, this is the first case report of massive lymphatic leakage complicated with vulvar lymphangiomas. Additionally, this case may represent the first successful treatment of vulva lymph leakage by cryotherapy without recurrence. Cryotherapy may have the potential to improve the quality of life as a less-invasive treatment for gynecological cancer survivors without serious complications.

  13. Angiographic and scintigraphic findings in fibrosing mediastinitis

    SciTech Connect

    Moreno, A.J.; Weismann, I.; Billingsley, J.L.; Lundy, M.N.; Brown, J.M.; Graham, G.D.; Brown, T.J.

    1983-04-01

    The clinical and morphologic findings in the case of a 47-year-old man with fibrosing mediastinitis, most probably due to histoplasmosis, are described. Radionuclide angiography demonstrated obstruction of the superior vena cava with collateral vascularization. Computed tomography demonstrated a large calcific mass interposed between the pulmonary artery and superior vena cava suggesting potential pulmonary vasculature involvement. For this reason, pulmonary scintigraphy was performed which showed right lung perfusion and ventilation defects. Radionuclide angiography and pulmonary scintigraphy complement each other in determining the extent of vascular involvement with fibrosing mediastinitis. However, contrast venography is necessary to correctly delineate the anatomy of the obstructed superior vena cava and its collaterals.

  14. PET imaging of primary mediastinal tumours.

    PubMed Central

    Kubota, K.; Yamada, S.; Kondo, T.; Yamada, K.; Fukuda, H.; Fujiwara, T.; Ito, M.; Ido, T.

    1996-01-01

    Mediastinal masses include a wide variety of tumours and remain an interesting diagnostic challenge for radiologist. We performed positron emission tomography (PET) studies of primary mediastinal tumours in order to predict the malignancy of these tumours preoperatively. Twenty-two patients with primary mediastinal tumours were studied with PET using 2-deoxy-2-[18F]fluoro-D-glucose (FDG). The histological findings of surgical pathology or biopsy, or mediastinoscopy were compared with those of computerised tomography (CT) and PET. PET images were evaluated semiquantitatively using the differential uptake ratio (DUR). Increased FDG uptake was observed in nine of ten patients with malignant tumours, including thymic carcinomas, lymphomas, invasive thymomas and a case of sarcoidosis. A moderate level of FDG uptake was found in a myeloma, non-invasive thymomas, and a schwannoma, whereas a low uptake was observed in a teratoma and various benign cysts. The mean FDG uptake of malignant tumours was significantly higher than that of benign tumours. Both thymic cancer and invasive thymoma showed a high FDG uptake. CT examination resulted in three false-negative and two false-positive cases when used in predicting tumour invasion, while PET was associated with a false-positive and a false-negative case. In conclusion, the use of FDG with PET is clinically helpful in evaluating the malignant nature of primary mediastinal tumours. Our results also suggest that a high FDG uptake reflects the invasiveness of malignant nature of thymic tumours. Images Figure 1 Figure 2 PMID:8611400

  15. Cystic Fibrosis

    PubMed Central

    Asay, Lyal D.

    1965-01-01

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

  16. The role of FDG PET/CT in evaluation of mediastinal masses and neurogenic tumors of chest wall

    PubMed Central

    Tatci, Ebru; Ozmen, Ozlem; Dadali, Yeliz; Biner, Inci Uslu; Gokcek, Atila; Demirag, Funda; Incekara, Funda; Arslan, Nuri

    2015-01-01

    We evaluated the efficiency of FDG PET/CT for the differentiation of malignant from benign mediastinal masses and neurogenic tumors of chest-wall. Methods: The 88 patients with chest wall-mediastinal masses who underwent examination before operation were retrospectively reviewed. Size, CT density (HU mean) and SUVmax of mediastinal and chest wall lesions were determined. Statistical differences of these parameters were compared between groups by Mann-Whitney U test. Receiver-operating characteristic curve (ROC) analysis with respect to SUVmax was performed to determine the best cutoff value for differentiating benign from malignant masses. Results: The overall sensitivity, specificity, accuracy, positive predictive value (PPV) and negative predictive value (NPV) of PET/CT in detection of malignancy were 90%, 55.17%, 67%, 50.94% and 91.43%, respectively. The SUVmax, HU mean and size were higher in malignant cases (P < 0.05). To distinguish benign and malignant lesions, the cut off value of SUVmax was 4.67. The lesion SUVmax was significantly associated with the lesion size and lesion HU mean values (P < 0.05). The value of SUVmax and HU mean were higher in solid benign lesions than those of cystic benign lesions (P < 0.05). The lesion size was higher in cystic lesions (P = 0.000). The mean SUVmax was significantly higher in invasive thymomas than those of non-invasive forms (P = 0.029). Conclusion: FDG PET/CT may be complementary to conventional imaging methods for the evaluation of mediastinal and chest wall masses. PET/CT may reduce unnecessary invasive investigations for diagnosis in patients with nonavid or low avid FDG lesions. However confirmatory tissue sampling is required to confirm PET positive findings for the definite diagnosis. PMID:26379916

  17. Primary Lymphangioma of the Palatine Tonsil in a 9-Year-Old Boy: A Case Presentation and Literature Review

    PubMed Central

    Iliadou, Eleftheria; Papapetropoulos, Nektarios; Karamatzanis, Eleftherios; Saravakos, Konstantinos

    2016-01-01

    Primary lymphangiomas or lymphangiomatous polyps of the palatine tonsil are rare benign lesions that are described infrequently in the literature. The majority of the published cases concern adults. We report a case of a lymphangiomatous lesion of the right palatine tonsil of a 9-year-old boy. Our clinical suspicion was confirmed by the histological examination after tonsillectomy and the diagnosis of primary lymphangioma of the tonsil was made. In this case we discuss the clinical and histopathological features of this lesion and present a short review of the current literature. PMID:27872780

  18. Mediastinal Pseudocyst in Acute on Chronic Pancreatitis.

    PubMed

    Mishra, Sushil Kumar; Jain, Pawan Kumar; Gupta, Sukhdev

    2016-03-01

    Pseudocyst is a common complication of Acute and chronic pancreatitis. However, its extension into the mediastinum is a rare entity. We present a case of 52 years male with acute on chronic pancreatitis (alcohol related) who presented with dysphagia and dyspnoea and was found to have a pancreatic pseudocyst extending upto the neck. Ultrasound fails to pick up mediastinal pseudocysts and requires additional imaging modalities - CT and MRI. Management of Mediastinal pseudocyst depends upon underlying etiology, ductal anatomy, size of the pseudocyst, and availability of expertise. Small pseudocysts in asymptomatic patients may resolve spontaneously, but requires prolonged conservative therapy with somatostatin or its analogue and Total Parenteral Nutrition. Ruptured pseudocyst in a symptomatic unstable patient requires surgical resection. Endoscopic ultrasound guided drainage (transmural or transpapillary) and Main Pancreatic Duct stenting are safe and effective treatment modality.

  19. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

    Arun, Sumitha; Kumar, Manish; Ross, Benjamin Jeyanth

    2016-09-08

    Bronchogenic cyst (BC) is a rare congenital malformation of the lung. Most patients remain asymptomatic until adulthood while some are symptomatic in the first few years of life. However, symptoms in newborn period are rare. We report a case of a 3-day-old preterm baby with respiratory distress diagnosed as congenital lobar emphysema on chest X-ray. A CT scan revealed a mediastinal cyst causing obstructive lobar emphysema. The cyst was excised and pathological examination was suggestive of BC.

  20. Hypertension in pregnancy: An unresectable mediastinal pheochromocytoma.

    PubMed

    Gazala, Sayf; Switzer, Noah; Bédard, Eric L R

    2016-02-01

    Hypertension is a relatively common occurrence during pregnancy, which usually has a benign course with an excellent prognosis. However, physicians caring for pregnant women should have a high index of suspicion for underlying medical conditions that could lead to a more perilous outcome. Herein, we present the case of a pregnant woman who was found to have uncontrollable hypertension late in her pregnancy, secondary to a mediastinal pheochromocytoma, which was deemed unresectable at the time of exploration after her delivery.

  1. Sick sinus syndrome as a complication of mediastinal radiation therapy

    SciTech Connect

    Pohjola-Sintonen, S.; Toetterman, K.J.K.; Kupari, M. )

    1990-06-01

    A 33-year-old man who had received mediastinal radiation therapy for Hodgkin's disease 12 years earlier developed a symptomatic sick sinus syndrome requiring the implantation of a permanent pacemaker. The sick sinus syndrome and a finding of an occult constrictive pericarditis were considered to be due to the previous mediastinal irradiation. A ventricular pacemaker was chosen because mediastinal radiotherapy also increases the risk of developing atrioventricular conduction defects.

  2. Progressive dyspnea in patient with large mediastinal mass

    PubMed Central

    2014-01-01

    Liposarcoma occurs very rarely in the mediastinum. Patients often remain asymptomatic until it grows large enough to cause direct invasion or compression of adjacent organs. We report a case of a 77-year-old male presented with dyspnea of exertion and was found to have a large mediastinal mass which was eventually diagnosed as primary mediastinal well-differentiated liposarcoma. The limited respiratory function at the initial presentation prompted phrenic nerve preserving incomplete resection rather than radical removal of the adjacent mediastinal structures. After surgical removal, the recurrence for well-differentiated mediastinal liposarcomas in the mediastinum is unknown; therefore, close follow-up is crucial. PMID:24393470

  3. [Giant cystic lymphangioma breast. Report of a case with 20-year follow-up and review of the literature].

    PubMed

    Vargas-Hernández, Víctor Manuel; Tovar-Rodríguez, José María; Moreno-Eutimio, Mario Adán; Acosta-Altamirano, Gustavo

    2014-01-01

    Antecedentes: los linfangiomas son malformaciones congénitas o adquiridas (secundarias a traumatismos, infecciones o neoplasias) de la glándula mamaria sumamente raras. Estas lesiones tienden a infiltrar los tejidos circundantes y la degeneración maligna es excepcional. Su manifestación clínica es en tumores benignos y de crecimiento lento. Se diagnostica clínicamente y por estudios de imagen. El tumor se extirpa por razones estéticas y para establecer el diagnóstico diferencial con otras lesiones más comunes. Caso clínico: paciente femenina de 45 años de edad, con incremento progresivo del tamaño de la mama izquierda, quizá originado por un traumatismo y no tiene otros sintomas. El diagnóstico histológico definitivo fue: linfangioma quístico gigante de la glándula mamaria izquierda. Discusión: los linfangiomas son lesiones extremadamente raras en la glándula mamaria, de comportamiento agresivo local y benignas. El tejido linfático anormal posee cierta capacidad de proliferar y de acumular grandes cantidades de líquido, lo que representa su apariencia quística, como sucedió en el caso aquí reportado. La extirpación quirúrgica local es el tratamiento indicado. Conclusión: este primer caso de linfangioma quístico gigante de mama reportado en México permite corroborar la benignidad de la lesión.

  4. Bilateral Cystic Adrenal Neuroblastoma with Cystic Liver metastasis

    PubMed Central

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

    2017-01-01

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

  5. Mediastinal paragangliomas related to SDHx gene mutations

    PubMed Central

    Ćwikła, Jarosław; Prejbisz, Aleksander; Kwiatek, Paweł; Szperl, Małgorzata; Michalski, Wojciech; Wyrwicz, Lucjan; Kuśmierczyk, Mariusz; Januszewicz, Andrzej; Maciejczyk, Anna; Roszczynko, Marta; Pęczkowska, Mariola

    2016-01-01

    Introduction Paragangliomas (PGLs) related to hereditary syndromes are rare mediastinal tumors. Paragangliomas are caused by mutations in genes encoding subunits of succinate dehydrogenase enzyme (SDH). Aim To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related to SDHx gene mutations. Material and methods Retrospective analysis of 75 patients with confirmed SDHx gene mutations (24 patients with SDHB, 5 SDHC, 46 with SDHD mutations) was performed. Patients underwent evaluation using computed tomography (CT), somatostatin receptor scintigraphy (SRS) (99mTc-[HYNIC,Tyr3]-octreotide), 123I mIBG scintigraphy and urinary excretion of total methoxycatecholamines. Results Out of 75 patients, 16 (21%) patients (1 SDHB, 15 SDHD mutations) had 17 PGLs localized in the mediastinum. Fourteen PGLs were localized in the middle mediastinum (intrapericardial) and 3 PGLs in the posterior mediastinum. The median diameter of paragangliomas measured on the axial slice was 24.3 mm (interquartile range (IQR): 14.7–36.6), and the median volume was 2.78 ml (IQR: 0.87–16.16). Twelve out of 16 patients (75%) underwent SRS, and 11 of them (92.3%) had pathological uptake of the radiotracer. Eleven (68.75%) out of 16 patients underwent 123 I mIBG, with only 3 positive results. Symptoms of catecholamine excretion were observed in 3 patients with PGLs localized in the posterior mediastinum. All PGLs were benign except in 1 patient with the SDHB mutation and PGL detected in the posterior mediastinum, who had a metastatic disease. Conclusions Most mediastinal paragangliomas were related to SDHD gene mutations. They were asymptomatic, localized in the medial mediastinum, intrapericardially. PMID:27785149

  6. Postoperative Mediastinitis Due to Finegoldia magna with Negative Blood Cultures▿

    PubMed Central

    Kernéis, Solen; Matta, Matta; Hoï, Annie Buu; Podglajen, Isabelle; Gutmann, Laurent; Novara, Ana; Latremouille, Christian; Mainardi, Jean-Luc

    2009-01-01

    We report a case of Finegoldia magna (formerly known as Peptostreptococcus magnus) mediastinitis following coronary artery bypass in a 50-year-old patient. Even if staphylococci remain the main causative organism of postoperative mediastinitis, the responsibility of anaerobic bacteria must be considered in cases of fever and sternal drainage with negative blood cultures. PMID:19812272

  7. Descending Mediastinitis in Epstein-Barr Virus Infection

    PubMed Central

    van Driel, E. M.; Janssen, M. J. F. M.

    2015-01-01

    Our case report describes a previously healthy 34-year-old male who develops a descending mediastinitis as a complication of an Epstein-Barr virus (EBV) infection. The mediastinitis was suspected to have developed by a breakthrough of a peritonsillar abscess through the space between the alar and prevertebral space. PMID:25740774

  8. Trans-mediastinal herniation of bulla: Semilunar sign

    PubMed Central

    Singh, Sheetu; Singh, Nishtha; Singh, Virendra

    2015-01-01

    Trans-mediastinal herniation of lung is seen occasionally but herniation of bulla across the mediastinum is rare. We report two cases with trans-mediastinal herniation of bullae leading to an unusual line appearing near the mediastinum. We propose the name ‘Semilunar sign’for this radiological sign because of its resemblance to the half-moon shape. PMID:26664170

  9. Posterior mediastinal extramedullary hematopoiesis secondary to hypoxia

    PubMed Central

    Solazzo, A; D’Auria, V; Moccia, LG; Vatrella, A; Bocchino, M; Rea, G

    2016-01-01

    Two mediastinal masses were incidentally detected at high resolution computed tomography (HRCT) of a 72 year-old male patient, former smoker, affected by chronic obstructive pulmonary disease with worsening dyspnea and 2-year medical history of polycythemia secondary to hypoxia. Integration with a multidetector computed tomography (MDCT) scan after administration of intravenous injection contrast medium showed slightly inhomogeneous increase of enhancement of masses, suggesting in the first case potential malignancy. Diagnosis of extramedullary hematopoiesis was achieved by fine needle aspiration citology (FNAC). Extramedullary hematopoiesis must be considered in differential diagnosis in patients with medical history of polycythemia and severe hypoxia. PMID:27326388

  10. Posterior mediastinal extramedullary hematopoiesis secondary to hypoxia.

    PubMed

    Solazzo, A; D'Auria, V; Moccia, L G; Vatrella, A; Bocchino, M; Rea, G

    2016-05-01

    Two mediastinal masses were incidentally detected at high resolution computed tomography (HRCT) of a 72 year-old male patient, former smoker, affected by chronic obstructive pulmonary disease with worsening dyspnea and 2-year medical history of polycythemia secondary to hypoxia. Integration with a multidetector computed tomography (MDCT) scan after administration of intravenous injection contrast medium showed slightly inhomogeneous increase of enhancement of masses, suggesting in the first case potential malignancy. Diagnosis of extramedullary hematopoiesis was achieved by fine needle aspiration citology (FNAC). Extramedullary hematopoiesis must be considered in differential diagnosis in patients with medical history of polycythemia and severe hypoxia.

  11. Descending necrotizing mediastinitis in the elderly patients

    PubMed Central

    Mazzella, Antonio; Santagata, Mario; Cecere, Atirge; La Mart, Ettore; Fiorelli, Alfonso; Tartaro, Gianpaolo; Tafuri, Domenico; Testa, Domenico; Grella, Edoardo; Perrotta, Fabio; Mazzarella, Gennaro; Santini, Mario

    2016-01-01

    Abstract Descending Necrotizing Mediastinitis (DNM) is a polymicrobic, dangerous and often fatal process, arising from head or neck infections and spreading along the deep fascial cervical planes, descending into the mediastinum. It can rapidly progress to sepsis and can frequently lead to death. It has a high mortality rate, up to 40% in the different series, as described in the literature. Surgical and therapeutic management has been discussed for long time especially in an elderly patient population. The literature has been reviewed in order to evaluate different pathogenesis and evolution and to recognise a correct therapeutic management. PMID:28352835

  12. Harlequin Syndrome Following Resection of Mediastinal Ganglioneuroma

    PubMed Central

    Jeon, Yeong Jeong; Son, Jongbae; Cho, Jong Ho

    2017-01-01

    Harlequin syndrome is a rare disorder of the sympathetic nervous system characterized by unilateral facial flushing and sweating. Although its etiology is unknown, this syndrome appears to be a dysfunction of the autonomic nervous system. To the best of our knowledge, thus far, very few reports on perioperative Harlequin syndrome after thoracic surgery have been published in the thoracic surgical literature. Here, we present the case of a 6-year-old patient who developed this unusual syndrome following the resection of a posterior mediastinal mass. PMID:28382275

  13. Anaesthetic Consideration in Macroglossia Due to Lymphangioma of Tongue: A Case Report

    PubMed Central

    Tewari, Anurag; Munjal, Munish; Kamakshi; Garg, Shuchita; Sood, Dinesh; Katyal, Sunil

    2009-01-01

    Summary Successful airway management of an infant or child with macroglossia prerequisites recognition of a potential airway problem. We describe our experience with a debilitated 13-year-old girl who presented with severe macroglossia, secondary to lymphangioma of the tongue. Along with the social discomfort she had inability to speak, eat or drink properly and exposure-induced dryness. Such patients are a challenge for the anaesthesiologists due to the anticipated difficult intubation associated with the oral mucosa occupying lesion. It also becomes pertinent to rule out any of the associated congenital anomalies. The importance of a thorough preoperative evaluation and attention to difficult intubation and maintenance of airway is emphasized. We endeavor to review the available literature regarding patient's perioperative management of such patients. PMID:20640084

  14. Mediastinal Myxoid Liposarcoma with Intrapericardial Involvement and Large Pericardial Effusion.

    PubMed

    Endara, Santiago Adolfo; Davalos, Gerardo Augusto; Vinueza, Ana Lucia; Montalvo, Nelson; Duran, Patricia Graciela; Barzallo, David Esteban

    2015-10-28

    Liposarcoma is the name given to a group of soft tissue sarcomas (STSs) with adipocytic differentiation. As a group, liposarcomas are the second most common STSs in adults. In 1951 Kozonis et al published that in the English language only four cases of liposarcomas originating in the mediastinum had been described. Primary mediastinal liposarcoma is an uncommon neoplasm of intrathoracic origin. We present the case of a 47-year-old woman diagnosed with a large mediastinal mass with intrapericardial invasion and massive pericardial effusion; biopsies showed a mediastinal liposarcoma.

  15. Aortic Pseudoaneurysm Secondary to Mediastinitis due to Esophageal Perforation

    PubMed Central

    Zuluaga, Claudia Patricia; Aluja Jaramillo, Felipe; Velásquez Castaño, Sergio Andrés; Rivera Bernal, Aura Lucía; Granada, Julio Cesar; Carrillo Bayona, Jorge Alberto

    2016-01-01

    Esophageal perforation is a condition associated with high morbidity and mortality rates; it requires early diagnosis and treatment. The most common complication of esophageal rupture is mediastinitis. There are several case reports in the literature of mediastinitis secondary to esophageal perforation and development of aortic pseudoaneurysm as a complication. We report the case of a patient with an 8-day history of esophageal perforation due to foreign body (fishbone) with mediastinitis and aortic pseudoaneurysm. The diagnosis was made using Computed Tomography (CT) with intravenous and oral water-soluble contrast material. An esophagogastroduodenoscopy did not detect the perforation. PMID:26977330

  16. Chromomycosis: Subcutaneous cystic type.

    PubMed

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

    2000-01-01

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

  17. Imaging Manifestations of Mediastinal Fat Necrosis

    PubMed Central

    Bhatt, Malay Y.; Martínez-Jiménez, Santiago; Rosado-de-Christenson, Melissa L.; Watson, Kenneth R.; Walker, Christopher M.; Kunin, Jeffrey R.

    2013-01-01

    Mediastinal fat necrosis (MFN) or epipericardial fat necrosis, as it is commonly referred to in the literature, is a rare self-limiting cause of chest pain of unclear etiology. MFN affects previously healthy individuals who present with acute pleuritic chest pain. Characteristic computed tomography (CT) findings include a fat attenuation lesion with intrinsic and surrounding increased attenuation stranding. There is often associated thickening of the adjacent pericardium and/or pleural effusions. We present two cases of MFN manifesting as ovoid fat attenuation lesions demarcated by a soft tissue attenuation rim with intrinsic and surrounding soft tissue attenuation stranding and review the clinical and pathologic features of these lesions. Knowledge of the clinical presentation of patients with MFN and familiarity with the characteristic imaging findings of these lesions should allow radiologists to prospectively establish the correct diagnosis and suggest conservative management and follow-up. PMID:24369521

  18. Fibrosing mediastinitis: a rare complication of histoplasmosis.

    PubMed

    Patel, Milesh; Lu, Frederic; Hannaway, Maria; Hochman, Katherine

    2015-11-04

    We report a case of a 29-year-old man who presented with intermittent haemoptysis for about 18 months. Previously, his symptoms had been diagnosed as musculoskeletal pain and later as pneumonia. CT found a venous infarct in the right lung in addition to extensive lymphadenopathy in the mediastinum and pulmonary hila, with associated calcifications almost completely occluding the superior vena cava and azygos vein. Further questioning revealed that the patient had once worked on an organic farm in Colorado. Subsequent work up was positive for histoplasmosis yeast antibodies. The patient was diagnosed with fibrosing mediastinitis (FM) and started on itraconazole for 3 months. We note that FM is a rare complication of histoplasmosis and can present as chronic haemoptysis. Travel history is an important aspect of the clinical evaluation. Antifungal agents have shown some efficacy in treating histoplasmosis-related FM.

  19. An interleukin-6-producing cardiac myxoma associated with mediastinal lymphadenopathy.

    PubMed

    Takizawa, T; Sumino, H; Kanda, T; Kobayashi, I; Nagai, R; Ichikawa, S

    1999-01-01

    We report our experience with a patient whose mediastinal lymphadenopathy resolved after resection of a cardiac myxoma that secreted interleukin-6 (IL-6). The patient was a 68-year-old female who complained of nocturnal chest discomfort related to congestive heart failure. An echocardiogram demonstrated a large left atrial mass. A computed tomogram showed not only the left atrial mass but multiple enlarged mediastinal lymph nodes. The serum IL-6 level was markedly elevated at 13.7 pg/ml. After resection of the cardiac myxoma, serum IL-6 returned to the normal range. A repeat computed tomogram showed no mediastinal lymphadenopathy. We believe that overproduction of IL-6 by the cardiac myxoma was the cause of the mediastinal lymphadenopathy.

  20. Mycoplasma hominis Induces Mediastinitis after a Tonsillar Abscess

    PubMed Central

    Grancini, Anna; Colosimo, Manuela; Restelli, Antonella; Colombo, Rosaria; Maraschini, Anna; Pozzi, Cristina; Breda, Giuseppe; Protti, Alessandro; Arghittu, Milena; Maiavacca, Rita

    2016-01-01

    Mycoplasma hominis is commonly involved in genitourinary tract infections. We report a 59-year-old man who developed a M. hominis-associated mediastinitis following acute tonsillar infection. PMID:27957362

  1. Pulmonary scintigraphy in fibrosing mediastinitis due to histoplasmosis

    SciTech Connect

    Park, H.M.; Jay, S.J.; Brandt, M.J.; Holden, R.W.

    1981-04-01

    The pulmonary scintigraphic findings from our patients with fibrosing mediastinitis due to histoplasmosis are reported. The ventilation/perfusion (V/Q) mismatch mimicked pulmonary emboli. However, in these cases the chest radiographs and/or gallium-67 scintigraphy were abnormal, suggesting mediastinal or hilar disease. Awareness of the nonembolic conditions that can result in V/Q mismatches is important in the interpretation of lung scans.

  2. Transoral endoscopic mediastinal surgery (TOEMS)—results of a first clinical study for scarless mediastinal lymph node biopsies

    PubMed Central

    Frese, Steffen; Leschber, Gunda; Nemat, André; Wilhelm, Thomas

    2016-01-01

    Background Video-assisted mediastinoscopy (VAM) represents the standard procedure for mediastinal lymph node biopsies. This operation results in a scar at prominent position at the anterior neck. Since there is a trend to less invasive procedures, natural orifice transluminal endoscopic surgery (NOTES) was introduced to different fields of surgery. Based on NOTES we developed a new approach for mediastinoscopy: transoral endoscopic mediastinal surgery (TOEMS). In previous studies using human cadavers and living pigs the feasibility of TOEMS was shown. It was unclear whether TOEMS could be safely applied in patients requiring mediastinal lymph node biopsies. Methods We conducted a clinical phase I study recruiting ten patients with unclear mediastinal lymphadenopathy not resolved by prior bronchoscopy. All patients underwent TOEMS for mediastinal lymph node biopsy. The duration of the procedure and complications were monitored. In addition, all patients were examined for pain, swallowing dysfunction and sensation disturbance. Results TOEMS was accomplished in eight patients. In two patients operation was converted to VAM due to technical problems. Mediastinal lymph nodes were dissected in all patients who finished with TOEMS. On average, two separate lymph stations were reached by TOEMS. Duration of the procedure was 159±22 min. Permanent palsy of the right recurrent laryngeal nerve was noticed in one patient postoperatively. Conclusions This is the first report for a human application of NOTES in thoracic surgery. In fact, transoral endoscopic surgery seems to be a feasible approach for mediastinal lymph node biopsies. Further studies are needed to show whether this procedure has an advantage over VAM in terms of pain, complications and accessibility of mediastinal lymph node stations. PMID:27867546

  3. Cystic Adenomatoid Odontogenic Tumor

    PubMed Central

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

    2015-01-01

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

  4. Diabetes in cystic fibrosis.

    PubMed

    Bridges, Nicola

    2013-05-01

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

  5. Effective treatment for malignant mediastinal teratoma.

    PubMed Central

    Parker, D; Holford, C P; Begent, R H; Newlands, E S; Rustin, G J; Makey, A R; Bagshawe, K D

    1983-01-01

    Primary malignant mediastinal teratoma is a rare tumour previously regarded as inevitably fatal. In a series of eight male patients with a mean age of 24 years five remain alive and well. All patients showed raised serum concentrations of human chorionic gonadotrophin or alpha fetoprotein. The patients were treated with intermittent combination chemotherapy that included cisplatin. Six patients responded to chemotherapy with a fall in human chorionic gonadotrophin or alpha fetoprotein to near normal levels and they then had radical excision of the remaining tumour. Living malignant tumour was found in four of the specimens and these patients received postoperative chemotherapy. One patient died after eight months and the remaining five patients are alive and well 13-136 months after the start of treatment. The two patients who did not undergo surgery died at one month and 15 months. Intermittent combination chemotherapy and carefully timed radical excision of these tumours would appear to have produced better results than have been reported in other series. Images PMID:6198739

  6. Cystic Fibrosis (CF) Respiratory Screen: Sputum

    MedlinePlus

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

  7. Cystic Fibrosis (CF) Respiratory Screen: Sputum

    MedlinePlus

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

  8. Tc-99m Sulfur Colloid Lymphoscintigraphy with Single-photon Emission Computed Tomography/Computed Tomography in a Case of Acquired Vulval Lymphangiomas

    PubMed Central

    Tulsyan, Shruti; Tripathi, Madhavi; Das, Kalpa; Yadav, Divya; Shamim, Shamim Ahmed; Damle, Nishikant; Bal, Chandrasekhar

    2017-01-01

    We describe the lymphoscintigraphy findings of a 25-year-old female patient who was undergoing presurgical workup for lymphangiomas of the vulva. She had a history of treatment for disseminated tuberculosis 6 years back and presented with herpetiform oozing vesicles in the external genitalia. Single-photon emission computed tomography/computed tomography (SPECT/CT) confirmed cutaneous tracer accumulation in the vulval lesions and demonstrated the presence of densely calcified inguinal nodes secondary to healed tuberculosis as the etiology of secondary lymphangioma. PMID:28242996

  9. Disseminated necrotic mediastinitis spread from odontogenic abscess: our experience

    PubMed Central

    Filiaci, Fabio; Riccardi, Emiliano; Mitro, Valeria; Piombino, Pasquale; Rinna, Claudio; Agrillo, Alessandro; Ungari, Claudio

    2015-01-01

    Summary Aims Deep neck infections are rare but potentially fatal complication of pulpal abscess of the teeth. If an infection can progress rapidly from a toothache to a life threatening infection, then it is critical that dentists be able to recognize the danger signs and identify the patients who are at risk. Mediastinitis is a severe inflammatory process involving the connective tissues that fills the intracellular spaces and surrounds the organs in the middle of the chest. This pathology has both an acute and a chronic form and, in most cases, it has an infectious etiology. This study want to expose the experience acquired in the Oral and Maxillo-facial Sciences Department, Policlinico Umberto I, “Sapienza” University of Rome, regarding two clinical cases of disseminated necrotizing mediastinitis starting from an odontogenic abscess. Methods We report two clinical cases of disseminated necrotic mediastinitis with two different medical and surgical approaches. The radiographic and photographic documentation of the patients was collected in the pre-and post-operatively. All patients underwent a CT scan and MRI. Results Mediastinitis can result from a serious odontogenic abscess, and the extent of its inflammation process must be never underestimated. Dental surgeons play a key role as a correct diagnosis can prevent further increasing of the inflammation process. Conclusions A late diagnosis and an inadequate draining represent the major causes of the elevated mortality rate of disseminated necrotizing mediastinitis. PMID:26330907

  10. Single port VATS mediastinal tumor resection: Taiwan experience

    PubMed Central

    Wu, Ching-Yang; Heish, Ming-Ju

    2016-01-01

    Background To present the technique of single-port video-assisted thoracoscopic mediastinal tumor resection, which includes limited thymectomy, extended thymectomy, cyst excision and posterior mediastinal tumor excision, and the early results of resection with the use of this technique. Methods Forty patients with mediastinal tumors were treated with single-port thoracoscopic mediastinal resection at Chang Gung Memorial Hospital between April 2014 and September 2015. The surgical intervention was performed through the fourth or fifth intercostal space at the anterior axillary line. A 5 or 10 mm 30 degree video camera and working instruments were employed simultaneously at this incision site throughout the surgery. Results Among the 40 cases included in the final analysis, 10 extended thymectomies, 7 limited thymectomies, nine cyst excisions and 14 tumor excisions were performed successfully without the need for conversion. For the 40 patients who underwent single-port video-assisted thoracoscopic surgery (VATS), the mean operation time was 97.3±31.2 min and the average blood loss was 29.75±39.77 mL. The average length of the incision wound was 3.22±0.79 cm and the average length of postoperative hospital stay was 3.72±1.63 days. There were no mortalities and mobility was achieved within 30 days postoperatively. Conclusions Our preliminary report suggests that uniportal VATS for mediastinal tumor resection is a promising and safe technique within a short-term period. PMID:27134836

  11. Unusual cause of massive hemothorax: spontaneous rupture of nonfunctioning mediastinal paraganglioma

    PubMed Central

    Lin, Feng; Liu, Chengwu; Ma, Lin; Pu, Qiang; Zhu, Yunke; Xiao, Zhilan; Guo, Chenglin; Zhang, Xiaolong; Li, Chuan

    2016-01-01

    Mediastinal paraganglioma is a rare neurogenic tumor with a hypervascular feature. The spontaneous rupture of mediastinal paraganglioma is an unusual cause of massive hemothorax. Here we present a case of 39-year-old man with massive hemothorax due to the spontaneous rupture of a mediastinal paraganglioma. The man underwent successful resection of tumor and had an uneventful recovery. To our knowledge, this is the first reported case of spontaneous rupture of nonfunctioning mediastinal paraganglioma. PMID:28149584

  12. Genetics Home Reference: cystic fibrosis

    MedlinePlus

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

  13. [US-guided transhepatic drainage of a mediastinal abscess].

    PubMed

    Simón-Yarza, I; Viteri-Ramírez, G; García-Lallana, A; Benito, A

    2014-01-01

    Anastomoses often leak after esophageal surgery; if they are not detected in time, leaks can give rise to complications like fluid collections, superinfections, and mediastinitis. Although these complications usually require surgical treatment, different series of patients successfully treated with conservative or minimally invasive approaches have been reported. We present the case of a patient who developed a mediastinal abscess after epiphrenic diverticulectomy. We treated the abscess with US-guided percutaneous transhepatic drainage to avoid surgical reintervention. Although other cases of a transhepatic approach to thoracic lesions have been reported, to our knowledge this is the first report of this technique in mediastinal abscesses. We recommend that transhepatic drainage be considered a therapeutic option in the management of these complications.

  14. Concurrent cranial mediastinal Blastomyces granuloma and carcinoma with cranial vena caval syndrome in a dog.

    PubMed

    Evans, Natashia A; Viviano, Katrina R

    2015-11-01

    This report describes an unusual progression of blastomycosis in a dog with concurrent mediastinal carcinoma. The dog was evaluated for respiratory distress. Diagnostic results revealed chylothorax and a cranial vena caval thrombus. Histopathology of the cranial mediastinal mass diagnosed mediastinal carcinoma and fungal granuloma. Intercurrent disease may complicate the clinical presentation and clinical course of blastomycosis.

  15. Video-assisted thoracoscopic surgery for complex mediastinal mass resections

    PubMed Central

    DeMarchi, Lorenzo; Emerson, Dominic A.; Holzner, Matthew L.

    2015-01-01

    Minimally invasive surgery has changed the way operative procedures are performed in many specialties. As surgeons have become progressively facile with these techniques, the opportunities to use them have expanded. In thoracic surgery, many surgeons now use minimally invasive techniques to resect small, uncomplicated pathologies of the mediastinum as well as to perform thymectomy for myasthenia gravis. Experience with these techniques has allowed new knowledge to be gained and expansion of the use of these techniques for more complicated mediastinal pathology. This keynote address will outline the instrumentation and techniques that we have adopted over a decade of using these techniques for more complicated mediastinal pathology. PMID:26693146

  16. Video-assisted thoracoscopic surgery for complex mediastinal mass resections.

    PubMed

    Marshall, M Blair; DeMarchi, Lorenzo; Emerson, Dominic A; Holzner, Matthew L

    2015-11-01

    Minimally invasive surgery has changed the way operative procedures are performed in many specialties. As surgeons have become progressively facile with these techniques, the opportunities to use them have expanded. In thoracic surgery, many surgeons now use minimally invasive techniques to resect small, uncomplicated pathologies of the mediastinum as well as to perform thymectomy for myasthenia gravis. Experience with these techniques has allowed new knowledge to be gained and expansion of the use of these techniques for more complicated mediastinal pathology. This keynote address will outline the instrumentation and techniques that we have adopted over a decade of using these techniques for more complicated mediastinal pathology.

  17. Mediastinal fibrosis and radiofrequency radiation exposure: is there an association?

    PubMed

    Papandreou, L; Panagou, P; Bouros, D

    1992-01-01

    A 45-year-old officer, working for a period of 18 years at a military radar base, presented with progressive exertional dyspnea, dry cough, and hemoptysis. Subsequent evaluation demonstrated a left pulmonary artery occlusion as well as a left upper lobe bronchus stenosis, due to a dense fibrotic mediastinal mass. Histologically, this proved to be idiopathic mediastinal fibrosis (IMF). The development of IMF in a man exposed for a long period to radio-frequency radiation (RFR) is unique in the literature in English. The possible association of radiation exposure with IMF is discussed.

  18. Unusual cause of right ventricular outflow tract compression: mediastinal lipomatosis.

    PubMed

    Bulakci, Mesut; Yahyayev, Aghakishi; Ucar, Adem; Erer, Burak; Erer, Betul; Dursun, Memduh

    2011-11-01

    Mediastinal lipomatosis (ML) is a benign condition characterized by the accumulation of mature adipose tissue within the mediastinum. ML is usually associated with Cushing syndrome and obesity. Most patients are asymptomatic, but some have thoracic pain, dyspnea, cough, dysphonia, dysphagia, and supraventricular tachycardia. We report a case of ML compressing the right ventricular outflow tract in a patient with Behçet disease.

  19. Acute eosinophilic pneumonia accompanied by mediastinal lymphadenopathy and thrombocytopenia.

    PubMed Central

    Esme, Hidir; Sahin, Onder; Sezer, Murat; Fidan, Fatma; Unlu, Mehmet

    2006-01-01

    Acute eosinophilic pneumonia, which was described in 1989, is thought to represent a hypersensitivity reaction to unidentified inhaled antigens. Here, we present a case of a marble mine worker with acute eosinophilic pneumonia complicated with mediastinal lymphadenopathy, neutrophilia, thrombocytopenia and acute respiratory distress syndrome. Images Figure 1 Figure 2 PMID:17128696

  20. [Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

    PubMed

    Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

    2011-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

  1. Cystic pulmonary hydatidosis

    PubMed Central

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

    2016-01-01

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

  2. Molecular Diagnosis of Cystic Fibrosis.

    PubMed

    Deignan, Joshua L; Grody, Wayne W

    2016-01-01

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

  3. Neonatal cystic fibrosis screening test

    MedlinePlus

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

  4. Giant Mediastinal Germ Cell Tumour: An Enigma of Surgical Consideration

    PubMed Central

    Ali, Nurayub Mohd; Azizan, Nornazirah; Zakaria, Andee Dzulkarnaen; Rahman, Mohd Ramzisham Abdul

    2016-01-01

    We present a case of 16-year-old male, who was referred from private centre for dyspnoea, fatigue, and orthopnea. The chest radiograph revealed complete opacification of left chest which was confirmed by computed tomography as a large left mediastinal mass measuring 14 × 15 × 18 cm. The diagnostic needle core biopsy revealed mixed germ cell tumour with possible combination of embryonal carcinoma, yolk sac, and teratoma. After 4 cycles of neoadjuvant BEP regime, there was initial response of tumour markers but not tumour bulk. Instead of classic median sternotomy or clamshell incision, posterolateral approach with piecemeal manner was chosen. Histology confirmed mixed germ cell tumour with residual teratomatous component without yolk sac or embryonal carcinoma component. Weighing 3.5 kg, it is one of the largest mediastinal germ cell tumours ever reported. We describe this rare and gigantic intrathoracic tumour and discuss the spectrum of surgical approach and treatment of this exceptional tumour. PMID:27807495

  5. Diagnosis and surgical treatment of mediastinal parathyroid tumors.

    PubMed Central

    Rothmund, M; Diethelm, L; Brünner, H; Kümmerle, F

    1976-01-01

    Experience and problems in the localization, diagnosis and surgical treatment of mediastinal parathyroid tumors are reported. Arteriography, pneumomediastinum and, especially, selective blood withdrawal with assay of parathyroid hormone, have proven valuable to the authors. Scintigram, intravital staining methods and venography are less productive. Retrosternal parathyroid tumors that can be removed from a Kocher incision should not, for practical reasons, be classified with the mediastinal tumors. The authors recommend the one-phase operation. If, after an intensive search of the neck and behind the sternum, no tumor has been found, it is advisable to incise the sternum step by step and revise the anterior mediastinum in the same session. Images Fig. 1a. Fig. 1b. Figs. 2 a and b. Fig. 3. PMID:1247311

  6. Successful Treatment of Congenital Lymphangioma Circumscriptum of the Vulva with CO2 and Long-Pulsed Nd:YAG Lasers.

    PubMed

    Sasaki, Ryosuke; Negishi, Kei; Akita, Hirotaka; Suzuki, Kayoko; Matsunaga, Kayoko

    2014-01-01

    A 16-year-old girl presented with a 9-year history of vesicles on the vulva. She had initially taken a wait-and-see approach, but required treatment because of bleeding. Histological examination of a biopsied vesicle revealed dilated lymph channels in the upper dermis, suggesting lymphangioma circumscriptum (LC). The challenge for this pathology has been to find a conservative treatment with low morbidity and better results than those reported for surgical excision, which has been the mainstay of therapy. In this case, LC of the vulva was successfully treated using a 10,600-nm CO2 laser and long-pulsed Nd:YAG laser. Use of the 10,600-nm CO2 laser and long-pulsed Nd:YAG laser appeared effective for treating LC.

  7. Primary mediastinal lymphomas, their morphological features and comparative evaluation

    PubMed Central

    Aggarwal, Riti; Rao, Seema; Dhawan, Shashi; Bhalla, Sunita; Kumar, Arvind; Chopra, Prem

    2017-01-01

    Background: Primary mediastinal lymphoma is an uncommon tumor. Hodgkin's lymphoma (HL), primary mediastinal B-cell lymphoma (PMBCL), and T-lymphoblastic lymphoma are the most common primary mediastinal lymphomas. Key morphological and immunohistochemistry (IHC) features play a very crucial role in diagnosis as well as further categorization. Materials and Methods: In this study, the morphological spectrum and histological features of 32 cases of primary mediastinal lymphomas diagnosed over 5 years were studied and morphological and IHC features of PMBCL versus HL were compared. Features of PMBCL were also compared against a control group of systemic diffuse large B-cell lymphoma. Results: Although PMBCL and HL are known to show overlapping morphological features, it was observed that presence of clear cells and compartmentalizing fibrosis in PMBCL; and classical Reed–Sternberg cells and dense inflammatory background in HL are important morphological clues while evaluating the biopsies. PMBCL showed diffuse, strong and uniform CD20 positivity; whereas CD30 showed focal/patchy, weak to moderate and heterogeneous expression, wherever found positive. As against this, HL showed diffuse, strong and uniform CD30 positivity; and focal/patchy, weak to moderate and heterogeneous CD20 expression, if found positive. CD20, CD3, and CD30 were sufficient in most of the cases while diagnosing PMBCL and HL. Conclusion: This study emphasizes the critical examination of IHC markers. Only positive expression in neoplastic cells is not sufficient to make a diagnosis, equal importance should be given to percentage, intensity, pattern, and type of positivity. Apart from basic IHC described above; CD15, leukocyte common antigen and fascin played an important role in differentiating HL and PMBCL in select doubtful cases. PMID:28144055

  8. Minimalist video-assisted thoracic surgery biopsy of mediastinal tumors

    PubMed Central

    Tacconi, Federico; Rogliani, Paola; Cristino, Benedetto; Gilardi, Francesco; Palombi, Leonardo

    2016-01-01

    Background Mediastinal tumors often require surgical biopsy to achieve a precise and rapid diagnosis. However, subjects with mediastinal tumors may be unfit for general anesthesia, particularly when compression of major vessels or airways does occur. We tested the applicability in this setting of a minimalist (M) uniportal, video-assisted thoracic surgery (VATS) strategy carried out under locoregional anesthesia in awake patients (MVATS). Methods We analyzed in a comparative fashion including propensity score matching, data from a prospectively collected database of patients who were offered surgical biopsy for mediastinal tumors through either MVATS or standard VATS. Tested outcome measures included feasibility, diagnostic yield, and morbidity. Results A total of 24 procedures were performed through MVATS. Diagnostic yield was 100%. Median hospital stay and time interval to oncologic treatment were 2 days (IQR, 2–3 days) and 7 days (IQR, 5.5–11.5 days), respectively. At overall comparison (MVATS, N=24 vs. VATS, N=23), there was a significant difference in both frequency and severity of postoperative complication as measured by Clavien-Dindo classification (P<0.006). In a propensity score matched comparison (8 patients per group), grade 3 or 4 complications requiring aggressive management were found only in the general anesthesia group. Global time spent in the operating room was shorter in the MVATS group (P=0.05). Time interval to oncological treatment was the same between groups. Other differences were also found in SIRS score (P=0.05) and PaO2/FiO2 (P=0.04) thus suggesting better adaption to perioperative stress. Conclusions MVATS biopsy appears to be a reliable tool to optimize diagnostic assessment in patients with mediastinal tumors. It can offer high diagnostic accuracy due to large tissue samples, while reducing morbidity rate compared to the same operation under general anesthesia. More robust evaluation is needed to define the appropriateness of

  9. Cervicofacial and mediastinal emphysema due to a dental procedure

    PubMed Central

    Ramnarine, Mityanand; Dubin, Zvi

    2017-01-01

    Dental procedures, though commonplace and usually very safe, are not without complications. We report on a case of extensive cervicofacial and mediastinal emphysema after a routine dental procedure, initially masquerading as an allergic reaction in an otherwise young and healthy woman. A review of the relevant literature on this clinical entity is presented, which serves to underscore the need for awareness by the treating clinician of this condition and its potential sequela. PMID:28243011

  10. Management of locally advanced primary mediastinal synovial sarcoma

    PubMed Central

    Chatterjee, Ambarish S; Kumar, Rajiv; Purandare, Nilendu; Jiwnani, Sabita; Karimundackal, George; Pramesh, CS

    2017-01-01

    Primary mediastinal synovial sarcoma (PMSS) is a relatively rare disease, and patients are treated predominantly with surgery for resectable disease. Management of locally advanced borderline resectable and unresectable PMSS is not only challenging but also lacks standard guidelines. We present three patients with PMSS, who were unresectable or borderline resectable at presentation and were treated with neoadjuvant chemotherapy followed by surgery and postoperative radiotherapy. PMID:28360472

  11. Combined endovascular treatment of aorto-oesophageal fistula with mediastinitis

    PubMed Central

    Berna, Pascal; Pequignot, Aurélien; De Temmerman, Pierre; De Dominicis, Florence

    2013-01-01

    False aortic aneurysm is an uncommon complication after oesophageal perforation and results in a high rate of mortality. A 63-year-old patient presented with acute chest pain. Biochemical tests (cardiac enzymes) and electrocardiogram were normal. A thoracic and abdominal CT scan was performed, and showed a foreign body in the posterior mediastinum, with mediastinal cellulitis and a false aortic aneurysm. Surgical endovascular management was performed, with stenting of the thoracic aorta and oesophageal exploration. PMID:23042800

  12. Rapid onset mediastinal hematoma due to vertebral fracture and review of relevant literature.

    PubMed

    Koksal, Vaner; Coskun, Selcuk; Coskun, Pinar Koksal

    2015-12-01

    Patients with vertebral fractures are frequently encountered and those with thoracic and lumbar spine fractures are likely to have associated injuries. Detection of a widened mediastinum after trauma is very nonspecific and most of the time it is related to aortic injury or mediastinal hematoma. Vertebral or sternal fractures can also be the cause of mediastinal hematoma with or without aortic injury. This report reviews an unusual case of rapid onset mediastinal hematoma due to vertebral fracture after a fall. In the case, there was a mediastinal hematoma adjacent to a burst fracture of the T8 vertebral body. There was a rapid increase in identified hematoma during the emergency follow up and urgent erythrocyte transfusion was carried out. We would like to raise awareness of this infrequent presentation of mediastinal hematoma, as it is insidious and possibly fatal. In the evaluation of mediastinal hematoma, the detection of osseous injuries is a requirement.

  13. Mediastinitis in pediatric cardiac surgery: Prevention, diagnosis and treatment

    PubMed Central

    Durandy, Yves

    2010-01-01

    In spite of advances in the management of mediastinitis following sternotomy, mediastinitis is still associated with significant morbidity. The prognosis is much better in pediatric surgery compared to adult surgery, but the prolonged hospital stays with intravenous therapy and frequent required dressing changes that occur with several therapeutic approaches are poorly tolerated. Prevention includes nasal decontamination, skin preparation, antibioprophylaxis and air filtration in the operating theater. The expertise of the surgical team is an additional factor that is difficult to assess precisely. Diagnosis is often very simple, being made on the basis of a septic state with wound modification, while retrosternal puncture and CT scan are rarely useful. Treatment of mediastinitis following sternotomy is always a combination of surgical debridement and antibiotic therapy. Continued use of numerous surgical techniques demonstrates that there is no consensus and the best treatment has yet to be determined. However, we suggest that a primary sternal closure is the best surgical option for pediatric patients. We propose a simple technique with high-vacuum Redon’s catheter drainage that allows early mobilization and short term antibiotherapy, which thus decreases physiological and psychological trauma for patients and families. We have demonstrated the efficiency of this technique, which is also cost-effective by decreasing intensive care and hospital stay durations, in a large group of patients. PMID:21179306

  14. [Kartagener syndrome with lung cancer and mediastinal tumor].

    PubMed

    Horie, Masafumi; Arai, Hidenori; Noguchi, Satoshi; Suzuki, Masaru; Sakamoto, Yoshio; Oka, Teruaki

    2010-05-01

    A 71-year-old man was admitted to Kanto Central Hospital with hemoptysis. He had had chronic sinusitis and deafness since childhood. Situs inversus, bronchiectasia, and diffuse panbronchiolitis had been also diagnosed at the age of 59. Chest computed tomography demonstrated a 5-cm mass in the anterior mediastinum as well as a 4-cm mass in the upper lobe of the right lung. A transbronchial lung biopsy of the right lung tumor revealed squamous cell carcinoma. Electron microscopic examination of the bronchial epithelial cilia revealed a total defect of both inner and outer dynein arms, leading to a diagnosis of primary ciliary dyskinesia. Biopsy of the mediastinal tumor was not performed. After concurrent chemoradiation therapy, the lung cancer decreased in size partial remission (PR) and the mediastinal tumor disappeared complete remission (CR). Later, a cavity formed in the tumor, where a Pseudomonas aeruginosa infection occurred. He died 1 year after the diagnosis of lung cancer was established. There have been 5 reported cases of Kartagener syndrome complicated with lung cancer, but to the best of our knowledge there have been no reports of Kartagener syndrome with mediastinal tumor.

  15. CT of chronic infiltrative lung disease: Prevalence of mediastinal lymphadenopathy

    SciTech Connect

    Niimi, Hiroshi; Kang, Eun-Young; Kwong, S.

    1996-03-01

    Our goal was to determine the prevalence of mediastinal lymph node enlargement at CT in patients with diffuse infiltrative lung disease. The study was retrospective and included 175 consecutive patients with diffuse infiltrative lung diseases. Diagnoses included idiopathic pulmonary fibrosis (IPF) (n = 61), usual interstitial pneumonia associated with collagen vascular disease (CVD) (n = 20), idiopathic bronchiolitis obliterans organizing pneumonia (BOOP) (n = 22), extrinsic allergic alveolitis (EAA) (n = 17), and sarcoidosis (n = 55). Fifty-eight age-matched patients with CT of the chest performed for unrelated conditions served as controls. The presence, number, and sites of enlarged nodes (short axis {ge}10 mm in diameter) were recorded. Enlarged mediastinal nodes were present in 118 of 175 patients (67%) with infiltrative lung disease and 3 of 58 controls (5%) (p < 0.001). The prevalence of enlarged nodes was 84% (46 of 55) in sarcoidosis, 67% (41 of 61) in IPF, 70% (14 of 20) in CVD, 53% (9 of 17) in EAA, and 36% (8 of 22) in BOOP. The mean number of enlarged nodes was higher in sarcoidosis (mean 3.2) than in the other infiltrative diseases (mean 1.2) (p < 0.001). Enlarged nodes were most commonly present in station 10R, followed by 7, 4R, and 5. Patients with infiltrative lung disease frequently have enlarged mediastinal lymph nodes. However, in diseases other than sarcoid, usually only one or two nodes are enlarged and their maximal short axis diameter is <15 mm. 11 refs., 2 figs., 1 tab.

  16. Complete transthoracic resection of giant posterior mediastinal goiter: case report and review of surgical strategies

    PubMed Central

    Zhao, Honglin; Ren, Dian; Liu, Yi; Li, Xin; Wu, Yi; Chen, Gang; Chen, Jun

    2016-01-01

    Intrathoracic goiters generally occupy anterior mediastinum, rarely involving the posterior mediastinal space. Reported herein is a 54-year-old female with a giant posterior mediastinal mass that was successfully resected via right posterolateral thoracotomy. The final pathologic diagnosis was giant posterior mediastinal goiter. This patient has done well postoperatively, with no evidence of local recurrence at 12-month follow-up. Related surgical strategies in past publications are summarized. PMID:27217766

  17. Multilocular Cystic Renal Cell Carcinoma or Cystic Nephroma?

    PubMed Central

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

    2016-01-01

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

  18. Prone-position thoracoscopic resection of posterior mediastinal lymph node metastasis from rectal cancer.

    PubMed

    Shirakawa, Yasuhiro; Noma, Kazuhiro; Koujima, Takeshi; Maeda, Naoaki; Tanabe, Shunsuke; Ohara, Toshiaki; Fujiwara, Toshiyoshi

    2015-02-12

    Mediastinal lymph node metastasis from colorectal cancer is rare, and barely any reports have described resection of this pathology. We report herein a successful thoracoscopic resection of mediastinal lymph node metastasis in a prone position. A 65-year-old man presented with posterior mediastinal lymph node metastasis after resection of the primary rectal cancer and metachronous hepatic metastasis. Metastatic lymph nodes were resected completely using thoracoscopic surgery in the prone position, which provided advantages of minimal invasiveness, good surgical field, and reduced ergonomic burden on the surgeon. Thoracoscopic resection in the prone position was thought to have the potential to become the standard procedure of posterior mediastinal tumors.

  19. [How can the anatomic mediastinal extension of the tumor be estimated? Endoscopic evaluation].

    PubMed

    Dumon, J F

    1992-01-01

    Tracheobronchial endoscopy is more particularly designed for the exploration of endotracheal and bronchial lesions. However, involvements of the mediastinum can be suggested or demonstrated on the basis of generally indirect signs. The most classical example is the paralysis of the left vocal chord, which expresses a para- or subaortic mediastinal extension. Tracheobronchial endoscopy has an interesting but not determining role in the appreciation of the mediastinal extension of non-small-cell bronchial cancers. It most often allows guiding complementary radiological examinations, and sometimes provides histological evidence of mediastinal extension. In some cases, esophageal endoscopy can demonstrate mediastinal extension, if a tracheoesophageal tumor is discovered.

  20. A case of giant mediastinal cyst initially detected and diagnosed by echocardiography.

    PubMed

    Li, XiaoDong; Wang, XiaoCong; Duan, XiuMei; Xu, Hui

    2015-07-01

    Mediastinal cysts are a group of benign mediastinal lesions, and their diagnoses are primarily depended on x-ray and computed tomography. The development of ultrasound instruments and inspection techniques in recent years has led to the ability to use transthoracic echocardiography to clearly display structures surrounding the heart according to the dark fluid space (blood) of the atrium, ventricles, and large vessels as an acoustic window. This technique offers improved detection rates of mediastinal lesions. We report a case of a mediastinal cyst that was first detected and diagnosed on thoracic echocardiography examination and then confirmed by thoracoscopic surgery and pathological analysis.

  1. Cystic Fibrosis: Diet and Nutrition

    MedlinePlus

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

  2. Cystic Fibrosis: Diet and Nutrition

    MedlinePlus

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

  3. Cystic fibrosis related diabetes.

    PubMed

    O'Shea, Donal; O'Connell, Jean

    2014-08-01

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

  4. Cystic fibrosis in Uruguay.

    PubMed

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

    2002-03-31

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

  5. Nutritional Issues in Cystic Fibrosis.

    PubMed

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

    2016-03-01

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

  6. A bizarre abdominal cystic lesion.

    PubMed

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

    2010-09-06

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

  7. Gastrointestinal Manifestations of Cystic Fibrosis

    PubMed Central

    2016-01-01

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

  8. Cervical and mediastinal emphysema associated with an asthma exacerbation.

    PubMed

    Khan, Waseem Asrar; Abbas, Shoneen; Bright, John

    2013-02-18

    Surgical emphysema associated with an acute asthma exacerbation is very rare. This report presents the case of a 19- year-old male patient with a background of asthma who presented with palpable cervical surgical emphysema and CT evidence of mediastinal emphysema. There are only a limited number of case reports associated with surgical emphysema in the absence of pneumothorax in patients with an asthma exacerbation. Evidence with regard to the management of such cases is limited and is largely consensus based. Below we discuss the case in a greater detail.

  9. Detection of mediastinitis after heart transplantation by gallium-67 scintigraphy

    SciTech Connect

    Quirce, R.; Serano, J.; Arnal, C.; Banzo, I.; Carril, J.M. )

    1991-05-01

    We report the findings of a patient with post-cardiac transplant mediastinitis detected by {sup 67}Ga-citrate imaging. Fever and leukocytosis were the first clinical signs suggesting infection. The usual diagnostic modalities, including CT and ultrasound, failed to identify the site of infection. A {sup 67}Ga scan showed intense abnormal uptake behind the sternum. The site of uptake was shown by necropsy to be necrotic tissue involving cardiac sutures, pulmonary arteries, and the aorta due to infection with Haemophilus aphrophilus.

  10. Laparoscopic retrosternal gastric pull-up for fistulized mediastinal mass

    PubMed Central

    Mungo, Benedetto; Barbetta, Arianna; Lidor, Anne O; Stem, Miloslawa; Molena, Daniela

    2017-01-01

    We describe the case of a patient successfully reconstructed with laparoscopic retrosternal gastric pull-up after esophagectomy for unresectable posterior mediastinal inflammatory myofibroblastic tumor, eroding into the esophagus and compressing the airways. A partial esophagectomy with esophagostomy was performed for treatment of esophageal pleural fistula and empyema, while the airways were managed with the placement of an endobronchial stent. Gastrointestinal reconstruction was performed using a laparoscopic approach to create a retrosternal tunnel for gastric conduit pull-up and cervical anastomosis. The patient was discharged uneventfully after 6 d, and has done very well at home with normal diet.

  11. Pneumothorax in cystic fibrosis

    PubMed Central

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

    2014-01-01

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

  12. Cystic fibrosis in pregnancy.

    PubMed Central

    Kent, N E; Farquharson, D F

    1993-01-01

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

  13. Haemophilus infection in cystic fibrosis.

    PubMed Central

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

    1990-01-01

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

  14. Belatacept and mediastinal histoplasmosis in a kidney transplant patient

    PubMed Central

    Trimarchi, Hernán; Rengel, Tatiana; Andrews, José; Paulero, Matías; Iotti, Alejandro; Forastiero, Agustina; Lombi, Fernando; Pomeranz, Vanesa; Forrester, Mariano; Iriarte, Romina; Agorio, Iris

    2016-01-01

    Background: In transplantation immunosuppression enhances the appearance of opportunist infections. An ideal balance between the prevention of rejection, the lowest risk of infections and the highest rates of graft survival is a continuous challenge. Lower doses of immunosuppression may diminish the risk of infections, metabolic and hemodynamic complications or even of malignancy, but may expose patients to episodes of acute rejection. New drugs are being developed to improve graft survival at the lowest risk of side effects. Belatacept has recently been introduced in kidney transplantation to inhibit the co-ligand signal of T cell stimulation. It is a drug with a safe profile, is well-tolerated and appears to improve long-term survival of kidney grafts. However, there may be an increase in opportunistic infections which may be facilitated by T cell depression, as Aspergillus sp., Cryptococcus neoformans or tuberculosis. Case Presentation: We describe a 59-year-old female who developed fever, clinical wasting and a mediastinal mass 31 months after receiving a living non-related kidney transplant while on belatacept therapy. A mediastinal node biopsy disclosed the presence of Histoplasma capsulatum. Infection successfully resolved after appropriate antifungal treatment. Conclusions: To our knowledge, this is the first reported case of Histoplasma capsulatum in a kidney transplanted patient on belatacept therapy PMID:27152295

  15. Clinical Manifestations of Fibrosing Mediastinitis in Chinese Patients

    PubMed Central

    Hu, Yan; Qiu, Jian-Xing; Liao, Ji-Ping; Zhang, Hong; Jin, Zhe; Wang, Guang-Fa

    2016-01-01

    Background: Fibrosing mediastinitis (FM) is a rare disease. FM is thought to be related to prior granulomatous mediastinal infection, such as histoplasmosis or tuberculosis. The majority of cases have been reported in endemic regions for histoplasmosis. The characteristics of cases of FM in China, where the prevalence of tuberculosis is high, have not been reported. We analyzed the clinical, imaging, and bronchoscopic features of Chinese patients with FM to promote awareness of this disease. Methods: Between January 2005 and June 2015, twenty patients were diagnosed with FM in our hospital. Medical records and follow-up data were collected. Imaging and biopsy findings were reviewed by radiologists and pathologists. Results: A total of 20 patients were analyzed (8 males and 12 females). The age ranged from 43 to 88 years with a mean age of 69.5 years. Previous or latent tuberculosis was found in 12 cases. Clinical symptoms included dyspnea (18/20), cough (17/20), expectoration (7/20), and recurrent pneumonia (3/20). Chest computed tomography scans showed a diffuse, homogeneous, soft tissue process throughout the mediastinum and hila with compression of bronchial and pulmonary vessels. Calcification was common (15/20). Pulmonary hypertension was present in 9 of 20 cases. Diffuse black pigmentation in the bronchial mucosa was frequently seen on bronchoscopy (12/13). The patients’ response to antituberculosis treatment was inconsistent. Conclusions: FM in Chinese patients is most likely associated with tuberculosis. Some characteristics of FM are different from cases caused by histoplasmosis. PMID:27824002

  16. DiGeorge syndrome who developed lymphoproliferative mediastinal mass.

    PubMed

    Kim, Kyu Yeun; Hur, Ji Ae; Kim, Ki Hwan; Cha, Yoon Jin; Lee, Mi Jung; Kim, Dong Soo

    2015-03-01

    DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing thymic shadow on their plain chest x-ray. Immunodeficient patients are traditionally known to be at an increased risk for malignancy, especially lymphoma. We experienced a 7-year-old DiGeorge syndrome patient with mediastinal mass shadow on her plain chest x-ray. She visited Severance Children's Hospital hospital with recurrent pneumonia, and throughout her repeated chest x-ray, there was a mass like shadow on anterior mediastinal area. We did full evaluation including chest computed tomography, chest ultrasonography, and chest magnetic resonance imaging. To rule out malignancy, video assisted thoracoscopic surgery was done. Final diagnosis of the mass which was thought to be malignancy, was lymphoproliferative lesion.

  17. All that wheezes: A young infant with a mediastinal mass

    PubMed Central

    Tong, Timothy; Doski, John J

    2014-01-01

    Wheezing infants are frequently encountered in the emergency department. Bronchiolitis is the most commonly seen cause. Radiographs are not recommended in the routine management of bronchiolitis. We present the case of a young wheezing infant with a mildly abnormal chest x-ray whose cystic hygroma caused life-threatening respiratory distress soon after he was admitted to the hospital. PMID:27489658

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

    MedlinePlus

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

  19. Endobronchial Ultrasound-directed Transbronchial Needle Aspiration in Diagnosis of Mediastinal Lesions: Initial Egyptian Experience.

    PubMed

    Safwat, Tarek; Khattab, Adel; Haddad, Salwa El; Mostafa, Yasser; Korraa, Emad; Madkour, Ashraf; Fattah, Wael Abd El

    2009-01-01

    Mediastinal lesions represent a diagnostic challenge and often require invasive approaches. We evaluated the role of radial probe endobronchial ultrasound-directed transbronchial needle aspiration (EBUS-TBNA) in the evaluation of mediastinal lesions. Between March 2005 to February 2006, 30 consecutive patients with enlarged mediastinal lymph nodes from unknown etiologies or suspicious for metastatic bronchogenic carcinoma and mediastinal masses underwent EBUS-TBNA and were clinically followed up. EBUS-TBNA was applied under topical anesthesia, midazolam sedation with a mean dose of 4.6+1.7 mg and prolonged the examination by 14.7 minutes on average. EBUS-directed TBNA was performed in 17 lymph nodes and 13 mediastinal masses, achieving specific diagnosis in 82.3% (14/17) and 84.6% (11/13) of examined lesions, respectively, with an overall yield of 83%. The sensitivity, specificity, and accuracy of EBUS-TBNA in distinguishing benign from malignant mediastinal lesions were 89.4%, 100%, and 93.3%, respectively. EBUS was well tolerated by most of the patients with no TBNA-related complications. In conclusion, EBUS-TBNA of mediastinal lesions is a minimally invasive safe diagnostic technique with high yield, even in the hands of those with initial experience. This initial study is convincing and stimulating for widespread application of EBUS-TBNA in Egyptian bronchoscopy practice.

  20. PULMONARY CYSTIC ECHINOCOCCOSIS

    PubMed Central

    Santivanez, Saul; Garcia, Hector H.

    2012-01-01

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

  1. Thoracoscopic Surgery for Glomus Tumor: An Uncommon Mediastinal Neoplasm and Iatrogenic Tracheal Rupture

    PubMed Central

    Fang, Zhongjie; Ma, Dehua; Luo, Huarong

    2017-01-01

    Mediastinal glomus tumors are rarely recognized, and only seven cases have been reported in the literature. Here, we describe a rare mediastinal glomus tumor and review the characteristics of this rare clinical case. The patient was a 50-year-old female who presented with coughing for 3 months. Her chest computed tomography scan demonstrated a localized tumor in the posterior superior mediastinum. Intraoperatively, we found a longitudinal rupture of the membranous trachea above the carina. We completely resected the tumor and repaired the tracheal rupture under a thoracoscopy using a pedicled muscle flap. The tissue was diagnosed as a mediastinal glomus tumor according to its histological and immunophenotypic characteristics. PMID:28133561

  2. Primary Ectopic Mediastinal Goiter in a Patient With Crohn's Disease Presenting as Myasthenia Gravis.

    PubMed

    Kumar, Sunil; Sultania, Mahesh; Vatsal, Shivam; Sharma, M C

    2015-12-01

    Mediastinum is an uncommon location for ectopic goiter. Primary ectopic mediastinal goiter has been reported to present mostly with compressive symptoms. We report a case of a 62-year-old man with history of Crohn's disease, who presented with symptoms of myasthenia gravis and was found to have an anterior mediastinal mass. The mass was resected completely with successful outcome. On histopathologic examination this mass turned out to be colloid goiter. This is an extremely rare presentation of a primary ectopic mediastinal goiter.

  3. A Rare Case of Primary Anterior Mediastinal Yolk Sac Tumor in an Elderly Adult Male

    PubMed Central

    Nakhla, Sammy G.; Sundararajan, Srinath

    2016-01-01

    Mediastinal germ cell tumors are extragonadal germ cell tumors (EGGCTs) commonly seen in children and young adults. They are more common in men. Clinically they are classified as teratomas, seminomas, and nonseminomatous germ cell tumors. Primary mediastinal yolk sac neoplasm is an extremely rare tumor. We present here a very rare case of primary yolk sac tumor of the anterior mediastinum in a 73-year-old male. Mediastinal germ cell tumors have a worse prognosis than gonadal germ cell tumors. Chemotherapy followed by adjuvant surgery improves overall response in EGGCTs. However, comorbidities can render treatment with chemotherapy and surgery challenging in elderly patients. PMID:27144043

  4. Accidental fracture of EBUS-TBNA needle during sampling of an enlarged mediastinal lymph node.

    PubMed

    Tariq, Syed Mohammad

    2016-04-01

    Endobronchial ultrasounded-guided transbronchial needle aspiration (EBUS-TBNA) for sampling enlarged hilar and mediastinal lymph nodes, and mediastinal tumours is a safe procedure and can be performed under sedation and local anaesthesia. Rare complications of this procedure include haemorrhage, pneumothorax, pneumonia, mediastinitis and pericarditis (Asano F et al., Complications associated with endobronchial ultrasound-guided transbronchial needle aspiration: a nationwide survey by the Japan Society for Respiratory Endoscopy. Respir Res 2013;14:50). I report an unexpected fracture of the tip of the EBUS-TBNA needle as it hit a bronchial cartilage ring during attempted insertion into a subcarinal node.

  5. Cystic Lesions in Autoimmune Pancreatitis.

    PubMed

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

    2015-01-01

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

  6. Nonsurgical resolution of caudal mediastinal paraesophageal abscess in a cat

    PubMed Central

    JUNG, Joohyun; CHOI, Mincheol

    2014-01-01

    A one-year-old, castrated male domestic short hair cat was admitted with a history of anorexia, regurgitation and pyrexia for two days. Fever and leukocytosis were identified. There were a large soft tissue density oval mass in the caudal mediastinum on thoracic radiographs, a fluid-filled oval mass in the caudal mediastinum on ultrasonography, and left-sided and ventrally displaced and compressed esophagus on esophagram. On esophageal endoscopy, there were no esophageal abnormalities. CT findings with a fluid filled mass with rim enhancement indicated a caudal mediastinal paraesophageal abscess. The patient was treated with oral antibiotics, because the owner declined percutaneous drainage and surgery. The patient was admitted on emergency with severe respiratory distress; and ruptured abscess and deteriorated pleuropneumonia were suspected. With intensive hospitalization care and additional antibiotic therapy, the patient had full recovery. PMID:25648207

  7. [Kodamaea ohmeri infection in a newborn with a mediastinal mass].

    PubMed

    Alvarado Socarras, Jorge; Rojas Torres, Juan P; Vargas Soler, José A; Guerrero, Carlos

    2016-10-01

    Invasive fungal infections are a considerable cause of morbidity, mortality, increased hospital stay durations, and high health care costs, during neonatal period. In this period, the premature infants are the most affected. Candida species are the leading cause of invasive fungal infections. The majority of neonatal Candida infections are caused by C. albicans, C. parapsilosis, C. glabrata and C. tropicalis, although other fungus species are being reported. One such emerging pathogen is K. ohmeri. This organism has been reported as a pathogen in the neonatal period, principally in premature infants. The risk factors associated with fungal infection are central line, immunosuppression, prolonged hospital stay, endotracheal intubation and exposure to antibiotics. We present a term baby with a mediastinal mass, who required several procedures, as pericardiocentesis, central catheters, mechanical ventilation, antibiotics. During his evolution, he presented infection by K. ohmeri. The baby was treated with amphotericin B, with satisfactory clinical course.

  8. Primary Mediastinal Large B-cell Lymphoma Exhibiting Endobronchial Involvement

    PubMed Central

    Shimada, Midori; Fukuda, Minoru; Horio, Kensuke; Suyama, Takayuki; Kitazaki, Takeshi; Hashiguchi, Kohji; Fukuda, Masaaki; Shigematsu, Kazuto; Nakamura, Yoichi; Honda, Takuya; Ashizawa, Kazuto; Mukae, Hiroshi

    2016-01-01

    Primary mediastinal large B-cell lymphoma (PMLBCL) is one of the subtypes of diffuse large B-cell lymphoma. We experienced a rare case of PMLBCL that exhibited endobronchial involvement. A 33-year-old Japanese female with the chief complaints of epigastralgia, back pain, and nausea visited a primary care hospital. Computed tomography of the chest and abdomen demonstrated a bulky mass in the left anterior mediastinum, multiple pulmonary nodules, axillary lymph node swelling, and a pancreatic tumor. Fiberoptic bronchoscopy showed a white-tinged irregularly shaped endobronchial tumor accompanied by capillary vessel dilation in the left upper lobar bronchus. Taken together, these findings resulted in a diagnosis of PMLBCL. PMID:27803409

  9. Mediastinal Desmoid Tumor With Remarkably Rapid Growth: A Case Report.

    PubMed

    Lee, Joon Hyung; Jeong, Jae Seok; Kim, So Ri; Jin, Gong Yong; Chung, Myoung Ja; Kuh, Ja Hong; Lee, Yong Chul

    2015-12-01

    Desmoid tumors (DTs) are a group of rare and benign soft tissue tumors that result from monoclonal proliferation of well-differentiated fibroblasts. Since DTs tend to infiltrate and compress adjacent structures, the location of DTs is one of the most crucial factors for determining the severity of the disease. Furthermore, DTs can further complicate the clinical course of patients when the growth is remarkably rapid, especially for DTs occurring in anatomically critical compartments, including the thoracic cavity.The authors report a case of a 71-year-old man with a known mediastinal mass incidentally detected 4 months ago, presenting dyspnea with right-sided atelectasis and massive pleural effusion. Imaging studies revealed a 16.4 × 9.4-cm fibrous mass with high glucose metabolism in the anterior mediastinum. The mass infiltrated into the chest wall and also displaced the mediastinum contralaterally. Interestingly, the tumor had an extremely rapid doubling time of 31.3 days.En bloc resection of the tumor was performed as a curative as well as a diagnostic measure. Histopathologic examination showed spindle cells with low cellularity and high collagen deposition in the stroma. Immunohistochemical staining was positive for nuclear β-catenin. Based on these pathologic findings, the mass was diagnosed as DT. After surgery, there has been no evidence of recurrence of disease in the patient.This patient presents a mediastinal DT with extremely rapid growth. Notably, the doubling time of DT in our case was the shortest among reported cases of DT. Our experience also highlights the benefits of early interventional strategy, especially for rapidly growing DTs in the thoracic cavity.

  10. Video-assisted thoracic surgery compared with posterolateral thoracotomy for mediastinal bronchogenic cysts in adult patients

    PubMed Central

    Guo, Chenglin; Mei, Jiandong; Liu, Chengwu; Deng, Senyi; Pu, Qiang; Lin, Feng

    2016-01-01

    Background Mediastinal bronchogenic cyst (MBC) is the most common primary cystic lesion of the mediastinum. This study aimed to investigate the efficacy and safety of video-assisted thoracic surgery (VATS) compared with posterolateral thoracotomy (PLT) for the treatment of MBCs in a large series. Methods Patients with MBCs who underwent surgical resection between August 2005 and December 2015 were identified from the electronic database of the Department of Thoracic Surgery, West China Hospital. The patient demographic characteristics, intraoperative findings, postoperative outcomes and follow-up information were reviewed and analyzed. Results A total of 99 patients underwent cystectomy were enrolled for the present study. Of those patients, 65 underwent VATS cystectomy (VATS group) and 34 underwent PLT cystectomy (PLT group) during the same period. The VATS group had shorter operative time than the PLT group (108.77±47.81 vs. 144.62±55.16, P=0.001), less intraoperative blood loss (median 20 vs. 100 mL, P<0.001), and less pleural drainage of the first three days after surgery (median 240 vs. 400 mL, P=0.002). In addition, the length of postoperative hospital stay and duration of chest drainage for the VATS group was also shorter than those of the PLT group (4.94±2.01 vs. 8.64±5.52 days, P=0.001; 2.52±1.29 vs. 3.71±1.55 days, P<0.001, respectively). No statistical significance was revealed among the two groups with regard to the maximum diameter of the cysts, pleural atresia, incomplete resection, surgery-related complications, duration of intensive care unit stay, and postoperative complications. Conclusions Both VATS and PLT are reliable approaches for the surgical resection of MBCs. The VATS approach is superior to PLT with shorter operative time, shorter duration of chest drainage, shorter postoperative hospital stay, less intraoperative blood loss, and less pleural drainage of the first three days after surgery. We conclude that VATS should be the

  11. Cystic Fibrosis (CF): Chloride Sweat Test

    MedlinePlus

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

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

    MedlinePlus

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

  13. Cystic Fibrosis (CF): Chloride Sweat Test

    MedlinePlus

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

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

    MedlinePlus

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

  15. Radioisotope therapy of cystic craniopharyngeomas

    SciTech Connect

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

    1982-09-01

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

  16. The history of the management of sternal osteomyelitis and mediastinitis - from Hippocrates until today.

    PubMed

    Ennker, Ina Carolin; Ennker, Jürgen C

    2014-01-01

    Even during the time of Hippocrates, Galen and their colleagues recognized mediastinal affections. However, they were not considered with the surgical treatment. First progress in the treatment options of this severe disease, still denoted as 'terra incognita', over to today's gold standard are pictured. The mediastinitis-registry which was founded by the German Society for Thoracic and Cardiovascular Surgery (DGTHG) in 2011 and the recent establishment of the study group to adopt a guideline 'diagnosis and therapy of postoperative mediastinitis/sternal osteomyelitis following cardiac surgery' are attempts to a standardization of the treatment. Substantial advancement in the treatment of postoperative mediastinitis could be achieved in the past. The mortality dropped as low as less than 10%. With these implementations more benefit for the patients' outcome can be expected.

  17. Tracheal varices caused by mediastinal compression of a large intrathoracic goiter: report of a case

    PubMed Central

    LUCCHINI, R.; SANTOPRETE, S.; TRIOLA, R.; POLISTENA, A.; MONACELLI, M.; AVENIA, S.; SANGUINETTI, A.; PUMA, F.; AVENIA, N.

    2015-01-01

    Introduction Tracheal varices are a rare condition but they can be an important source of massive or recurrent haemoptysis. Usually they are related to increased pressure in the pulmonary veins. Mediastinal goiter is often associated to compressive effects on the surrounding structures, including mediastinal vessels with potential superior vena cava syndrome. Case report We describe a case, not previously reported in literature, of mediastinal goiter with hemoptysis as first clinical manifestation. Bleeding was attributed to a superior vena cava syndrome associated to a tracheal fragile mucosa with an easily bleeding intramural nodule which was diagnosed as tracheal varices after total thyroidectomy. The nodule in fact disappeared together with the venous hypertensive signs after venous decompression of the mediastinum. Conclusions Compressive symptoms including tracheal varices, related to mediastinal goiter, can be treated surgically by total thyroidectomy via cervicotomy and when required with associated median sternotomy. PMID:25827666

  18. [Historical compilation of cystic fibrosis].

    PubMed

    Navarro, Salvador

    2016-01-01

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

  19. Nutritional management of cystic fibrosis.

    PubMed Central

    MacDonald, A

    1996-01-01

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

  20. Poststernotomy mediastinitis: a review of conventional surgical treatments, vacuum-assisted closure therapy and presentation of the Lund University Hospital mediastinitis algorithm.

    PubMed

    Sjögren, Johan; Malmsjö, Malin; Gustafsson, Ronny; Ingemansson, Richard

    2006-12-01

    Poststernotomy mediastinitis, also commonly called deep sternal wound infection, is one of the most feared complications in patients undergoing cardiac surgery. The overall incidence of poststernotomy mediastinitis is relatively low, between 1% and 3%, however, this complication is associated with a significant mortality, usually reported to vary between 10% and 25%. At the present time, there is no general consensus regarding the appropriate surgical approach to mediastinitis following open-heart surgery and a wide range of wound-healing strategies have been established for the treatment of poststernotomy mediastinitis during the era of modern cardiac surgery. Conventional forms of treatment usually involve surgical revision with open dressings or closed irrigation, or reconstruction with vascularized soft tissue flaps such as omentum or pectoral muscle. Unfortunately, procedure-related morbidity is relatively frequent when using conventional treatments and the long-term clinical outcome has been unsatisfying. Vacuum-assisted closure is a novel treatment with an ingenious mechanism. This wound-healing technique is based on the application of local negative pressure to a wound. During the application of negative pressure to a sternal wound several advantageous features from conventional surgical treatment are combined. Recent publications have demonstrated encouraging clinical results, however, observations are still rather limited and the underlying mechanisms are largely unknown. This review provides an overview of the etiology and common risk factors for deep sternal wound infections and presents the historical development of conventional therapies. We also discuss the current experiences with VAC therapy in poststernotomy mediastinitis and summarize the current knowledge on the mechanisms by which VAC therapy promotes wound healing. Finally, we suggest a structured algorithm for using VAC therapy for treatment of poststernotomy mediastinitis in clinical

  1. Survival rates in cystic fibrosis.

    PubMed Central

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

    1983-01-01

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

  2. Nutritional management of cystic fibrosis.

    PubMed

    Goodchild, M C

    1987-01-01

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

  3. Progression of mediastinal tuberculosis and superior vena caval obstruction demonstrated by gallium-67 citrate and radiocolloid liver scintigraphy

    SciTech Connect

    Shih, W.J.; DeLand, F.H.; Domstad, P.A.; Mac Vandiviere, H.; Dillon, M.L.

    1986-02-01

    Most causes of superior vena caval (SVC) obstruction are caused by malignant mediastinal neoplasms, especially bronchogenic carcinoma. Less frequently SVC obstruction results from a non-malignant lesion such as mediastinal goiter or tuberculosis. We present a case of mediastinal tuberculosis which progressively enlarged as shown in consecutive Ga-67 citrate studies. As a result, SVC obstruction developed, exhibited by radionuclide SV Cavagram, and demonstrated ''hot'' spots in the radiocolloid scans.

  4. [Ectopic mediastinal parathyroid tumor resected by video-assisted thoracic surgery with intraoperative methylene blue infusion; report of a case].

    PubMed

    Okagawa, Takehiko; Hiramatsu, Yoshinori

    2014-03-01

    We report a surgical case of ectopic mediastinal parathyroid tumor resected by video-assisted thoracic surgery with intraoperative methylene blue infusion. It is often difficult to detect ectopic mediastinal parathyroid tumor during the operation because the tumor is soft, small and buried under mediastinal tissue. After methylene blue 4 mg/kg intravenously administration, the tumor was gradually dyed blue and easily detected and resected by video-assisted thoracic surgery. It is useful of methylene blue for detection of ectopic mediastinal parathyroid tumor.

  5. Mediastinal migration of distal occipito-thoracic instrumentation

    PubMed Central

    Joseph, Vivek; Al Jahwari, Ahmed S.

    2007-01-01

    We present the occurrence and management of mediastinal migration of the distal aspect of a posterior occipito-thoracic screw–rod construct. No similar occurrence was found in the literature. This event occurred following an emergency tracheotomy (requiring neck hyperextension) in a patient with severe rheumatoid arthritis, who had previously undergone decompression and an Occiput-T2 instrumented fusion for cranio-cervical and sub-axial cervical spine instability. Imaging showed fracture-subluxation of T1/2 and T2/3 with the bilateral C7, T1 and T2 screws in the mediastinum causing tracheal and esophageal compression. Removal of the instrumentation, decompression (T2 corpectomy) and construct revision down to T10 was safely performed from a posterior approach. Severe osteoporosis, some pre-existing screw loosening and hyperextension of the neck were the predisposing factors of this near catastrophic event. By staying directly posterior to the rod and following the fibrous tract already created, the instrumentation was safely removed from the mediastinum. PMID:18000689

  6. Laparoscopic management of enlarged cystic duct.

    PubMed

    Nowzaradan, Y; Meador, J; Westmoreland, J

    1992-12-01

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

  7. Biomarkers in Paediatric Cystic Fibrosis Lung Disease.

    PubMed

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

    2015-09-01

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

  8. Cystic Fibrosis Research | NIH MedlinePlus the Magazine

    MedlinePlus

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

  9. Apparent Diffusion Coefficient Measurement in Mediastinal Lymphadenopathies: Differentiation between Benign and Malignant Lesions

    PubMed Central

    Ustabasioglu, Fethi Emre; Samanci, Cesur; Alis, Deniz; Samanci, Nilay Sengul; Kula, Osman; Olgun, Deniz Cebi

    2017-01-01

    Objectives: We aimed to prospectively assess the diagnostic value of apparent diffusion coefficient (ADC) measurement in the differentiation of benign and malignant mediastinal lymphadenopathies. Materials and Methods: The study included 63 consecutive patients (28 women, 35 men; mean age 59.3 years) with 125 mediastinal lymphadenopathies. Echoplanar diffusion-weighted magnetic resonance imaging of the mediastinum was performed with b-factors of 0 and 600 mm2/s before mediastinoscopy and mediastinotomy, and ADC values were measured. The ADC values were compared with the histological results, and statistical analysis was done. P < 0.05 was considered statistically significant. Results: The mean ADC value of malignant mediastinal lymphadenopathy (1.030 ± 0.245 × 10−3 mm2/s) was significantly lower (P < 0.05) when compared to benign lymphadenopathies (1.571 ± 0.559 × 10−3 mm2/s). For differentiating malignant from benign mediastinal lymphadenopathy, the best result was obtained when an ADC value of 1.334 × 10−3 mm2/s was used as a threshold value; area under the curve 0.848, accuracy 78.4%, sensitivity 66%, specificity of 86%, positive predictive value 76.7%, and negative predictive value of 79.2%. Interobserver agreement was excellent for ADC measurements. Conclusions: ADC measurements could be considered an important supportive method in differentiating benign from malignant mediastinal lymphadenopathies.

  10. Etanercept-induced cystic acne.

    PubMed

    Kashat, Maria; Caretti, Katherine; Kado, Jessica

    2014-07-01

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

  11. Cystic Lung Diseases: Algorithmic Approach.

    PubMed

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

    2016-10-01

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

  12. Fulminant mediastinitis due to extended-spectrum beta-lactamase-producing Klebsiella pneumoniae: atypical presentation and spreading following cardiac surgery.

    PubMed

    Valenzuela, Horacio; Carrascal, Yolanda; Maroto, Laura; Arce, Nuria

    2013-05-01

    Mediastinitis due to Klebsiella pneumoniae, related to thoracic wall contamination after cardiac surgery, has rarely been described. We aim to report a case of fulminant mediastinitis due to extended-spectrum beta-lactamase-producing K. pneumoniae, secondary to a disseminated concomitant pulmonary infection. The patient remained pauci-symptomatic until clinical manifestations of sepsis acutely appeared.

  13. Vacuum-assisted closure (VAC)-Instill(®) with continuous irrigation for the treatment of Mycoplasma hominis mediastinitis.

    PubMed

    Karaca, Saziye; Kalangos, Afksendiyos

    2015-10-01

    A 56-year-old patient who underwent ascending aorta replacement postoperatively developed mediastinitis with atypical Mycoplasma hominis. We present the first successful treatment of M. hominis mediastinitis after cardiac surgery with vacuum-assisted closure (VAC)-Instill(®) therapy combined with dilute antiseptic irrigation for bacterial eradication.

  14. An Unusual Presentation of a Posterior Mediastinal Schwannoma Associated with Traumatic Hemothorax

    PubMed Central

    Amin, Ruchi; Waibel, Brett H.

    2015-01-01

    Schwannomas of the thoracic cavity are typically an asymptomatic, benign neurogenic neoplasm of the posterior mediastinum. In this case, we present a traumatic hemothorax as the initial presentation for a previously undiscovered mediastinal mass. The patient presented with shortness of breath and right-sided chest pain after being struck in the chest with a soccer ball. An operative exploration was pursued due to persistent hemothorax with hemodynamic instability despite resuscitation and adequate thoracostomy tube placement. The intraoperative etiology of bleeding was discovered to be traumatic fracture of a large hypervascular posterior mediastinal schwannoma. Surgical resection is the treatment of choice for these tumors. Specific serological markers do not exist for this tumor, and radiographic findings can be variable, so tissue diagnosis is of importance in differentiating benign from malignant schwannomas, as well as other posterior mediastinal tumors. However, most patients have excellent survival following complete resection. PMID:26064757

  15. Cervicofacial subcutaneous and mediastinal emphysema caused by air cooling spray of dental laser.

    PubMed

    Mitsunaga, Sachiyo; Iwai, Toshinori; Aoki, Noriaki; Yamashita, Yosuke; Omura, Susumu; Matsui, Yoshiro; Maegawa, Jiro; Hirota, Makoto; Mitsudo, Kenji; Tohnai, Iwai

    2013-06-01

    Cervicofacial subcutaneous emphysema is a rare complication of dental procedures with an air turbine or syringe, and dentists and oral surgeons sometimes encounter mediastinal emphysema following the presentation of extensive subcutaneous emphysema. Most emphysema occurs incidentally during tooth extraction, restorative treatment, or endodontic treatment, with only a few cases reported of cervicofacial subcutaneous emphysema associated with dental laser treatment. We report a case of cervicofacial subcutaneous and mediastinal emphysema caused by the air cooling spray of dental laser during dental treatment in a 76-year-old woman. After she underwent dental laser treatment, cervicofacial swelling was noted and she was referred to our department. Computed tomography showed both cervicofacial subcutaneous emphysema and mediastinal emphysema. Antibiotics were administered prophylactically and the emphysema disappeared 5 days after the dental laser treatment, without any complications.

  16. Hodgkin’s disease presenting as discharging neck sinuses and a mediastinal mass

    PubMed Central

    Zolotar, Meira; Olaleye, Oladejo; Sherif, Ali; Howe, Rachael; Mathews, John

    2011-01-01

    A 23-year-old Asian lady presented with a hard indurated midline neck swelling of 2 months duration without any upper aerodigestive tract or systemic symptoms of note. Her inflammatory markers were elevated and she was commenced on antibiotics. Ultrasound scan and fine needle aspiration cytology (FNAC) were inconclusive. A CT scan showed an ill-defined soft tissue mass anterior to and not well demarcated from the thyroid, and contiguous with a superior and anterior mediastinal mass. Incisional biopsy revealed necrosis and pockets of purulent material. Microbiology suggested a chronic pyogenic abscess negative for acid fast bacilli. She was treated with antituberculous therapy without resolution. She developed a discharging lateral neck mass with progressive increase of the mediastinal mass. She subsequently required a neck exploration and mediastinoscopy. Repeat mediastinal biopsies confirmed the diagnosis of Hodgkin’s disease and no organisms on culture. She was commenced on chemotherapeutic treatment with a satisfactory outcome. PMID:22689859

  17. Resection of giant mediastinal liposarcoma via ‘⊣ shape’ incision

    PubMed Central

    Huang, Wei; Jiang, Ge Ning

    2017-01-01

    Primary mediastinal liposarcomas are extremely rare conditions often resected through standard median sternotomy or lateral thoracotomy. However, the management of a very huge mediastinal tumor involving hemithorax through these two common surgical approaches is always challenging. Herein, we report a case of applying median sternotomy with a sternum transection plus a right fourth intercostal thoracotomy (‘⊣ shape’ incision) to resect a giant primary anterior mediastinal liposarcoma extending into the whole right thorax. The final pathological diagnosis was a well-differentiated liposarcoma. The patient experienced an uneventful recovery. The ‘⊣ shape’ incision is a good backup for the extension of standard median sternotomy and provides a better exposure for both mediastinum and hemithorax. PMID:28044001

  18. Feline mediastinal lymphoma: a retrospective study of signalment, retroviral status, response to chemotherapy and prognostic indicators.

    PubMed

    Fabrizio, Francesca; Calam, Amy E; Dobson, Jane M; Middleton, Stephanie A; Murphy, Sue; Taylor, Samantha S; Schwartz, Anita; Stell, Anneliese J

    2014-08-01

    Historically, feline mediastinal lymphoma has been associated with young age, positive feline leukaemia virus (FeLV) status, Siamese breed and short survival times. Recent studies following widespread FeLV vaccination in the UK are lacking. The aim of this retrospective multi-institutional study was to re-evaluate the signalment, retroviral status, response to chemotherapy, survival and prognostic indicators in feline mediastinal lymphoma cases in the post-vaccination era. Records of cats with clinical signs associated with a mediastinal mass and cytologically/histologically confirmed lymphoma were reviewed from five UK referral centres (1998-2010). Treatment response, survival and prognostic indicators were assessed in treated cats with follow-up data. Fifty-five cases were reviewed. The median age was 3 years (range, 0.5-12 years); 12 cats (21.8%) were Siamese; and the male to female ratio was 3.2:1.0. Five cats were FeLV-positive and two were feline immunodeficiency-positive. Chemotherapy response and survival was evaluated in 38 cats. Overall response was 94.7%; complete (CR) and partial response (PR) rates did not differ significantly between protocols: COP (cyclophosphamide, vincristine, prednisone) (n = 26, CR 61.5%, PR 34.0%); Madison-Wisconsin (MW) (n = 12, CR 66.7%, PR 25.0%). Overall median survival was 373 days (range, 20-2015 days) (COP 484 days [range, 20-980 days]; MW 211 days [range, 24-2015 days] [P = 0.892]). Cats achieving CR survived longer (980 days vs 42 days for PR; P = 0.032). Age, breed, sex, location (mediastinal vs mediastinal plus other sites), retroviral status and glucocorticoid pretreatment did not affect response or survival. Feline mediastinal lymphoma cases frequently responded to chemotherapy with durable survival times, particularly in cats achieving CR. The prevalence of FeLV-antigenaemic cats was low; males and young Siamese cats appeared to be over-represented.

  19. Post-surgical mediastinitis due to carbapenem-resistant Enterobacteriaceae: Clinical, epidemiological and survival characteristics.

    PubMed

    Abboud, C S; Monteiro, J; Stryjewski, M E; Zandonadi, E C; Barbosa, V; Dantas, D; Sousa, E E; Fonseca, M J; Jacobs, D M; Pignatari, A C; Kiffer, C; Rao, G G

    2016-05-01

    Invasive infections due to carbapenem-resistant Enterobacteriaceae (CRE), including polymyxin-resistant (PR-CRE) strains, are being increasingly reported. However, there is a lack of clinical data for several life-threatening infections. Here we describe a cohort of patients with post-surgical mediastinitis due to CRE, including PR-CRE. This study was a retrospective cohort design at a single cardiology centre. Patients with mediastinitis due to CRE were identified and were investigated for clinically relevant variables. Infecting isolates were studied using molecular techniques. Patients infected with polymyxin-susceptible CRE (PS-CRE) strains were compared with those infected with PR-CRE strains. In total, 33 patients with CRE mediastinitis were studied, including 15 patients (45%) with PR-CRE. The majority (61%) were previously colonised. All infecting isolates carried blaKPC genes. Baseline characteristics of patients with PR-CRE mediastinitis were comparable with those with PS-CRE mediastinitis. Of the patients studied, 70% received at least one agent considered active in vitro and most patients received at least three concomitant antibiotics. Carbapenem plus polymyxin B was the most common antibiotic combination (73%). Over 90% of patients underwent surgical debridement. Overall, in-hospital mortality was 33% and tended to be higher in patients infected with PR-CRE (17% vs. 53%; P=0.06). In conclusion, mediastinitis due to CRE, including PR-CRE, can become a significant challenge in centres with CRE and a high cardiac surgery volume. Despite complex antibiotic treatments and aggressive surgical procedures, these patients have a high mortality, particularly those infected with PR-CRE.

  20. Identification of Primary Mediastinal Large B-cell Lymphoma at Nonmediastinal Sites by Gene Expression Profiling.

    PubMed

    Yuan, Ji; Wright, George; Rosenwald, Andreas; Steidl, Christian; Gascoyne, Randy D; Connors, Joseph M; Mottok, Anja; Weisenburger, Dennis D; Greiner, Timothy C; Fu, Kai; Smith, Lynette; Rimsza, Lisa M; Jaffe, Elaine S; Campo, Elias; Martinez, Antonio; Delabie, Jan; Braziel, Rita M; Cook, James R; Ott, German; Vose, Julie M; Staudt, Louis M; Chan, Wing C

    2015-10-01

    Mediastinal involvement is considered essential for the diagnosis of primary mediastinal large B-cell lymphoma (PMBL). However, we have observed cases of diffuse large B-cell lymphoma (DLBCL) with features of PMBL but without detectable mediastinal involvement. The goal was to assess our previously established gene expression profiling (GEP) signature for PMBL in classifying these cases. In a large series of DLBCL cases, we identified 24 cases with a GEP signature of PMBL, including 9 cases with a submission diagnosis of DLBCL consistent with PMBL (G-PMBL-P) and 15 cases with a submission diagnosis of DLBCL. The pathology reviewers agreed with the diagnosis in the 9 G-PMBL-P cases. Among the other 15 DLBCL cases, 11 were considered to be PMBL or DLBCL consistent with PMBL, 3 were considered to be DLBCL, and 1 case was a gray-zone lymphoma with features intermediate between DLBCL and classical Hodgkin lymphoma. All 9 G-PMBL-P and 9 of the 15 DLBCL cases (G-PMBL-M) had demonstrated mediastinal involvement at presentation. Interestingly, 6 of the 15 DLBCL cases (G-PMBL-NM) had no clinical or radiologic evidence of mediastinal involvement. The 3 subgroups of PMBL had otherwise similar clinical characteristics, and there were no significant differences in overall survival. Genetic alterations of CIITA and PDL1/2 were detected in 26% and 40% of cases, respectively, including 1 G-PMBL-NM case with gain of PDL1/2. In conclusion, PMBL can present as a nonmediastinal tumor without evidence of mediastinal involvement, and GEP offers a more precise diagnosis of PMBL.

  1. Late Chronic Tamponade after Intraoperative Right Ventricular Rupture Repair with Mediastinal Fat.

    PubMed

    Gualis, Javier; Castaño, Mario; Rodríguez, Miguel Angel; García, Cristina

    2015-12-01

    Advanced age and female sex are known risk factors for ventricular wall rupture during open-heart procedures. We present the case of an 83-year-old female patient with an intraoperative traumatic right ventricular free wall rupture during an aortic valve replacement procedure. Pledgetted interrupted sutures reinforced with large pieces of mediastinal fat were used for rupture repair. After 6 months, the patient was readmitted with the diagnosis of a retrosternal mediastinal mass and clinical signs of cardiac tamponade that required reoperation.

  2. Mediastinal emphysema in mountain climbers: report of two cases and review.

    PubMed

    Vosk, A; Houston, C S

    1977-01-01

    Two cases of mediastinal emphysema occurring in healthy individuals climbing to the summit of Mount Rainier (4,393 m.) are described. In both, the condition was probably attributable to a voluntary, forced pressure breathing technique--a modified Valsalva maneuver. The various circumstances in which mediastinal emphysema may occur are discussed, along with its possible serious complication of cardiorespiratory compromise. The means of diagnosis are presented, emphasizing that cases in which the important finding of subcutaneous emphysema is absent may be those in which the danger is greatest. Therapeutic measures that occasionally may be necessary are outlined, though the condition is usually a benign one that subsides without specific treatment.

  3. Mediastinal Pseudocyst: Varied Presentations and Management—Experience from a Tertiary Referral Care Centre in India

    PubMed Central

    Abdul Jameel, Abdul Rehman; Kannan, Naveen; Anbalagan, Amudhan; Duraisamy, Benet; Raju, Prabhakaran

    2017-01-01

    Pseudocysts are a recognised complication following acute or chronic pancreatitis. Usually located in peripancreatic areas, they have also been reported to occur in atypical regions like liver, pelvis, spleen, and mediastinum. Mediastinal pseudocysts are a rare entity and present with myriad of symptoms due to their unique location. They are a clinical challenge to diagnose and manage. In this paper, we describe the clinical and radiological characteristics of mediastinal pseudocysts in 7 of our patients, as well as our experience in managing these patients along with their clinical outcome. PMID:28392624

  4. Percutaneous coil embolisation of a false aortic aneurysm following coronary surgery and mediastinitis.

    PubMed

    Barbetakis, Nikolaos; Xenikakis, Theocharis; Efstathiou, Andreas; Fessatidis, Ioannis

    2007-01-01

    A 71-year-old male patient was admitted with methicillin-resistant staphylococcus aureus mediastinitis two months after coronary artery bypass grafting. Treatment with immediate surgical debridement, removal of sternal wires and use of vacuum-assisted closure device was started. Spiral computerised tomography and aortography revealed a false aortic aneurysm at the cannulation site. Active mediastinitis and the patient's objection to further surgery led us to perform percutaneous coil embolisation. No postoperative complication was observed and one year later the patient is in excellent condition.

  5. Non-Candida albicans Candida mediastinitis of odontogenic origin in a diabetic patient.

    PubMed

    Kofteridis, Diamantis P; Mantadakis, Elpis; Karatzanis, Alexander D; Bourolias, Constantinos A; Papazoglou, Georgios; Velegrakis, George A; Samonis, George

    2008-06-01

    Descending mediastinitis occurs as a complication of oropharyngeal or cervical infections and its delayed diagnosis and treatment are associated with high mortality. A rare case of an odontogenic infection in a diabetic patient, complicated by Candida parapsilosis and Candida krusei parapharyngeal space infection, descending mediastinitis and aspiration pneumonia is described. Isolate identification was based on colonial and microscopic morphological characteristics and carbohydrate assimilation test results. The patient was successfully treated with surgical drainage and debridement, broad spectrum antibacterials and liposomal amphotericin B followed by prolonged oral voriconazole therapy.

  6. A retropharyngeal–mediastinal hematoma with supraglottic and tracheal obstruction: The role of multidisciplinary airway management

    PubMed Central

    Birkholz, Torsten; Kröber, Stefanie; Knorr, Christian; Schiele, Albert; Bumm, Klaus; Schmidt, Joachim

    2010-01-01

    A 77-year-old man suffered hypoxemic cardiac arrest by supraglottic and tracheal airway obstruction in the emergency department. A previously unknown cervical fracture had caused a traumatic retropharyngeal–mediastinal hematoma. A lifesaving surgical emergency tracheostomy succeeded. Supraglottic and tracheal obstruction by a retropharyngeal–mediastinal hematoma with successful resuscitation via emergency tracheostomy after hypoxemic cardiac arrest has never been reported in a context of trauma. This clinically demanding case outlines the need for multidisciplinary airway management systems with continuous training and well-implemented guidelines. Only multidisciplinary staff preparedness and readily available equipments for the unanticipated difficult airway solved the catastrophic clinical situation. PMID:21063569

  7. Negative sweat tests and cystic fibrosis.

    PubMed Central

    Sarsfield, J K; Davies, J M

    1975-01-01

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

  8. [Bronchopulmonary infection in cystic fibrosis].

    PubMed

    Munck, Anne; Bingen, Edouard

    2003-01-15

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

  9. Cystic Fibrosis: Brazilian ENT Experience

    PubMed Central

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

    2012-01-01

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

  10. Androgen excess in cystic acne.

    PubMed

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

    1983-04-28

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

  11. Internal irradiation for cystic craniopharyngioma

    SciTech Connect

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

    1981-12-01

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

  12. The role of surgery in diagnosis and treatment of mediastinal malignancies.

    PubMed

    Neef, H

    1990-01-01

    Primary mediastinal malignancies should be treated aggressively using a multidisciplinary approach since some are curable. Surgery is indicated in almost all cases of mediastinal masses with the exception of malignant lymphomas. The question of operability must be placed at the beginning of diagnostic measures in a mediastinal mass. Exact decisions about local operability are often only possible after thoracotomy. Long lasting diagnostic maneuvers are therefore to be avoided. Histological assessment of masses in the middle or anterior mediastinum is possible by mediastinoscopy or other methods. Thus in malignant lymphomas or metastases thoracotomy can be avoided. In the other mediastinal spaces exact histology remains unknown until thoracotomy. If exploration shows inoperability, mass reduction is performed to decrease the space-taking process and to provide better chances for radiotherapy and chemotherapy. Primary radiotherapy and/or chemotherapy are indicated in malignant lymphomas and germ cell tumors. After these measures the indication for surgical excision in tumors has to be proved. X-ray screening techniques need to be improved to aid in early detection, higher extirpation rates, and thus better chances for cure. Because the amount of cases in individual departments is low multicenter collaboration will be required to define the optimal combined modality approach.

  13. Stridor due to an innominate artery compression and posterior mediastinal mass in a pediatric patient.

    PubMed

    Abraham, Edwin; Parray, Tariq; Poteet-Schwartz, Kim

    2012-06-01

    There are many causes for stridor in a pediatric patient. We present an interesting case of a pediatric patient who had stridor due to an innominate artery compression and posterior mediastinal mass. We discuss the anesthetic complication and management of patients with stridor.

  14. Cranial vena cava syndrome secondary to cryptococcal mediastinal granuloma in a cat

    PubMed Central

    Letendre, Jo-Annie; Boysen, Søren

    2015-01-01

    The successful management of cranial vena cava syndrome with suspected secondary chylothorax due to mediastinal cryptococcal granuloma in a 4-year-old male domestic shorthair cat is described. Treatment included long-term antifungal medication, short-term corticosteroids, intermittent thoracocentesis, rutin, octreotide, and enalapril. PMID:25829555

  15. Benign Mature Mediastinal Dysembryoma with Pulmonary Extension Revealed by Recurrent Hemoptysis in a Young Woman

    SciTech Connect

    Filaire, M.; Michel-Letonturier, M.; Garcier, J. M.; Escande, G.; Boyer, L.

    2006-06-15

    We report one case of mature mediastinal teratoma with pulmonary extension surgically diagnosed in a 22-year-old woman complaining of recurrent hemoptyses for which no etiological explanation could be found. Thoracic surgery was only decided on after three embolizations proved ineffective.

  16. Machine learning in the prediction of cardiac epicardial and mediastinal fat volumes.

    PubMed

    Rodrigues, É O; Pinheiro, V H A; Liatsis, P; Conci, A

    2017-02-24

    We propose a methodology to predict the cardiac epicardial and mediastinal fat volumes in computed tomography images using regression algorithms. The obtained results indicate that it is feasible to predict these fats with a high degree of correlation, thus alleviating the requirement for manual or automatic segmentation of both fat volumes. Instead, segmenting just one of them suffices, while the volume of the other may be predicted fairly precisely. The correlation coefficient obtained by the Rotation Forest algorithm using MLP Regressor for predicting the mediastinal fat based on the epicardial fat was 0.9876, with a relative absolute error of 14.4% and a root relative squared error of 15.7%. The best correlation coefficient obtained in the prediction of the epicardial fat based on the mediastinal was 0.9683 with a relative absolute error of 19.6% and a relative squared error of 24.9%. Moreover, we analysed the feasibility of using linear regressors, which provide an intuitive interpretation of the underlying approximations. In this case, the obtained correlation coefficient was 0.9534 for predicting the mediastinal fat based on the epicardial, with a relative absolute error of 31.6% and a root relative squared error of 30.1%. On the prediction of the epicardial fat based on the mediastinal fat, the correlation coefficient was 0.8531, with a relative absolute error of 50.43% and a root relative squared error of 52.06%. In summary, it is possible to speed up general medical analyses and some segmentation and quantification methods that are currently employed in the state-of-the-art by using this prediction approach, which consequently reduces costs and therefore enables preventive treatments that may lead to a reduction of health problems.

  17. Anterior mediastinal fat in Behçet's disease: qualitative and quantitative CT analysis.

    PubMed

    Lee, Sang Yub; Lee, Jongmin; Lee, Hui Joong; Choi, Sun Ju; Hahm, Myong Hun; Yoon, Sung Won

    2013-12-01

    The fat-rich anterior mediastinum could be a sensitive window for monitoring minute changes in vascularity induced by systemic vasculitis. To evaluate this hypothesis, an analysis of anterior mediastinal fat in patients with Behçet's disease and a control group was conducted. This study included 43 patients diagnosed with Behçet's disease within the last 11 years who underwent CT scan; 55 patients were selected as a control population. Mediastinal fat was classified according to CT morphology. Comparison of serum inflammatory markers was performed for evaluation of disease activity according to morphologic types, and average Hounsfield unit of the anterior mediastinum was measured. Significantly higher mean CT attenuation was observed in the Behçet's disease group, compared with the control group (-48.5 ± 33.5 vs. -67.7 ± 18.7, respectively, P < 0.05). Mediastinal fat types were classified as follows: pure fatty tissue (2 vs. 31 % [Behçet's disease vs. control group]), diffuse soft tissue infiltration (16 vs. 29 %), tubular structures (21 vs. 4 %), mixed infiltration with tubular structures (42 vs. 15 %), and evident thymic tissue (19 vs. 22 %). The value for mean mediastinal attenuation was significantly higher in the group with a high level of C-reactive protein than in the normal level group. The mean CT attenuation of anterior mediastinal fat is significantly higher in the Behçet's disease group, compared with the normal group. Although pathologic confirmation is needed, the cause is postulated to be either inflammatory neovascularization or minimal thymic hyperplasia induced by Behçet's disease.

  18. Feasibility of thoracoscopic approach for retrosternal goitre (posterior mediastinal goitre): Personal experiences of 11 cases

    PubMed Central

    Bhargav, Panchangam Ramakanth; Amar, Vennapusa; Mahilvayganan, Sabaretnam; Nanganandadevi, Vimala

    2016-01-01

    INTRODUCTION: Posterior mediastinal goitres constitute of a unique surgical thyroid disorder that requires expert management. Occasionally, they require thoracic approach for the completion of thyroidectomy. In this paper, we describe the feasibility and utility of a novel thoracoscopic approach for such goitres. MATERIALS AND METHODS: This is a retrospective study conducted at a tertiary care endocrine surgery department in South India over a period of 5 years from January 2010 to December 2014. We developed a novel thoracoscopic technique for posterior mediastinal goitres instead of a more morbid thoracotomy or sternotomy. All the clinical, investigative, operative, pathological and follow-up data were collected from our prospectively filled database. Statistical analysis was done with SPSS 15.0 version. Descriptive analysis was done. OPERATIVE TECHNIQUE OF THORACOSCOPIC THYROIDECTOMY: Single lumen endotracheal tube (SLETT) was used of anaesthetic intubation and general inhalational anaesthesia. Operative decubitus was supine with extension and abduction of the ipsilateral arm. Access to mediastinum was obtained by two working ports in the third and fifth intercostal spaces. Mediastinal extension was dissected thoracoscopically and delivered cervically. RESULTS: Out of 1,446 surgical goitres operated during the study period, 72 (5%) had retrosternal goitre. Also, 27/72 (37.5%) cases had posterior mediastinal extension (PME), out of which 11 cases required thoracic approach. We utilised thoracoscopic technique for these 11 cases. The post-operative course was uneventful with no major morbidity. There was one case of recurrent laryngeal nerve (RLN) injury and hoarseness of voice in the third case. Histopathologies in 10 cases were benign, out of which two had subclinical hyperthyroidism. One case had multifocal papillary microcarcinoma. CONCLUSIONS: We opine that novel thoracoscopic technique is a feasibly optimal approach for posterior mediastinal goitre

  19. Comparison of the clinical features and hematopoietic stem cell transplantation outcomes of mediastinal malignant germ cell tumors with nonmediastinal extragonadal placements

    PubMed Central

    Ocal, Nesrin; Yildiz, Birol; Karadurmus, Nuri; Dogan, Deniz; Ozaydin, Sukru; Ocal, Ramazan; Ozturk, Mustafa; Arpaci, Fikret; Bilgic, Hayati

    2016-01-01

    Objective Even though the primary mediastinal extragonadal germ cell tumors (EGCTs) are rare, they are noteworthy in the differential diagnosis of mediastinal masses. In this study, we aimed to identify the clinical features of mediastinal malignant GCTs and compare the results of hematopoietic stem cell transplantation between mediastinal and nonmediastinal malignant EGCTs. Method Data of the patients with EGCT who were treated and underwent hematopoietic stem cell transplantation at our hospital between 1988 and 2015 were retrieved retrospectively. Results were compared between mediastinal and nonmediastinal EGCTs. Results Data of 65 patients diagnosed with EGCT (37 [56.92%] cases with mediastinal EGCT and 28 [43.07%] cases with nonmediastinal EGCT) were assessed. The clinical stages, frequency of pretransplant status, mean pretransplant time, and mean number of chemotherapy lines before hematopoietic stem cell transplantation were not significantly different between groups. Although the overall survival did not significantly differ between groups, the 5-year survival was significantly higher in mediastinal EGCTs (P=0.02). Yolk sac tumor was significantly more common in mediastinal EGCTs (P=0.05). Mortality rates were higher in seminomas and yolk sac tumors in all cases, higher in embryonal carcinomas in mediastinal EGCT group and higher in yolk sac tumors in nonmediastinal EGCT group. While choriocarcinomas had more aggressive courses in mediastinal EGCTs, seminomas and yolk sac tumors had poorer prognosis in nonmediastinal EGCTs. Short pretransplant time and persistence of elevated posttransplant βhCG and AFP levels were the significant mortality risk factors both in mediastinal and nonmediastinal EGCTs. Conclusion Mediastinal placement of EGCT was not a poor prognostic factor; furthermore, the 5-year survival was significantly higher in mediastinal EGCTs. According to our knowledge, this is the first study that compares the clinical outcomes of hematopoietic

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

    PubMed

    Moss, Richard B

    2015-04-01

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

  1. Two patients with TAFRO syndrome exhibiting strikingly similar anterior mediastinal lesions with predominantly fat attenuation on chest computed tomography.

    PubMed

    Ozawa, Yoko; Yamamoto, Hiroshi; Yasuo, Masanori; Takahashi, Hidekazu; Tateishi, Kazunari; Ushiki, Atsuhito; Kawakami, Satoshi; Fujinaga, Yasunari; Asaka, Shiho; Sano, Kenji; Takayama, Hiroshi; Imamura, Hiroshi; Hanaoka, Masayuki

    2017-03-01

    We herein report on two middle-aged men with TAFRO (thrombocytopenia, anasarca, fever, reticulin fibrosis or renal failure, and organomegaly) syndrome, a unique clinicopathological variant of multicentric Castleman׳s disease recently proposed in Japan. Strikingly similar anterior mediastinal fat swellings with soft tissue density were observed in the patients on chest computed tomography. In TAFRO syndrome, bilateral pleural effusion and slight lymph node swelling are common in the thoracic region; however, anterior mediastinal lesions have not been previously observed. Although the mechanisms of anterior mediastinal lesions have not been defined, these lesions seem to have a close relationship with TAFRO syndrome.

  2. Cystic avascular necrosis of the triquetrum.

    PubMed

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

    2013-01-01

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

  3. Cystic Pheochromocytoma Presenting as Adrenal Cyst

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-09-01

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

  5. [New tools in cystic fibrosis].

    PubMed

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

    2016-12-01

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

  6. Cystic echinococcosis in southern Brazil.

    PubMed

    de la Rue, Mario L

    2008-01-01

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

  7. Cystic cerebellar astrocytomas in childhood.

    PubMed

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

    1979-07-01

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

  8. Chronic pancreatitis and cystic fibrosis

    PubMed Central

    Witt, H

    2003-01-01

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

  9. Laboratory diagnosis of cystic fibrosis.

    PubMed

    Webster, H L

    1983-01-01

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

  10. Gastrointestinal manifestations in cystic fibrosis.

    PubMed

    Eggermont, E

    1996-08-01

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

  11. Alcaligenes infection in cystic fibrosis.

    PubMed

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

    2002-08-01

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

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

    PubMed

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

    2010-01-01

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

  13. Radiological description of cystic pancreatic tumors.

    PubMed

    Rodríguez Torres, C; Larrosa López, R

    2016-01-01

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

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

    PubMed

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

    2002-03-01

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

  15. Multiple endocrine neoplasia type 1 with anterior mediastinal parathyroid adenoma: successful localization using Tc-99m sestamibi SPECT/CT

    PubMed Central

    Park, Hye Lim; Kim, Sung Hoon; Lee, Sohee

    2016-01-01

    The most common manifestation of multiple endocrine neoplasia type 1 (MEN1) is hyperparathyroidism. Treatment of hyperparathyroidism in MEN patients is surgical removal of the parathyroid glands, however ectopic parathyroid gland is challenging for treatment. A 51-year-old female, the eldest of 3 MEN1 sisters, had hyperparathyroidism with ectopic parathyroid adenoma in the mediastinal para-aortic region, which was detected by technetium-99m (Tc-99m) sestamibi scintigraphy and single-photon emission computed tomography/computed tomography (SPECT/CT). She underwent total parathyroidectomy with video-assisted thoracoscopic surgery on an anterior mediastinal mass. Anterior mediastinal parathyroid adenoma in MEN1 patients is rare. Precise localization of an ectopic parathyroid gland with Tc-99m sestamibi SPECT/CT can lead to successful treatment of hyperparathyroidism. This is the first reported case in the literature of mediastinal parathyroid adenoma in MEN1 patient visualized by Tc-99m sestamibi SPECT/CT. PMID:27904855

  16. Primary mediastinal large B-cell lymphoma arising from thyroid in a renal recipient with Hashimoto's thyroiditis.

    PubMed

    Wu, Fang; Qu, Lu; Li, Dai-Qiang; Hu, Chun-Hong

    2015-01-01

    Primary mediastinal large B-cell lymphoma is a subtype of diffuse large B-cell lymphoma, arising in the mediastinum from putative thymic B-cell origin with distinctive clinical and genetic features. Generally, primary mediastinal large B-cell lymphoma is believed as only deriving in the mediastinum. The current study presents a rare case of primary mediastinal large B-cell lymphoma which arising from thyroid in a renal recipient with Hashimoto's thyroiditis. Moreover, we devoted a discussion to the relationship among primary mediastinal large B-cell lymphoma, immunomodulatory therapy and autoimmune diseases. The immunologic derangement induced by long-term immunomodulatory therapy and Hashimoto's thyroiditis may be the possible cause for the ectopic lymphoma.

  17. A case of descending mediastinitis caused by Streptococcus pyogenes harboring genotype emm25 and sequence type 660.

    PubMed

    Ohya, Hiroaki; Mori, Nobuaki; Hayashi, Tetsuro; Minami, Shujiro; Higuchi, Akiko; Takahashi, Takashi

    2017-02-01

    Descending mediastinitis caused by Streptococcus pyogenes (group A streptococcus, GAS) is rare among cases of invasive GAS infection. In this report, we describe a case of a cervical abscess and secondary descending mediastinitis in a previously healthy 39-year-old Japanese man. The patient presented with a 2-week history of a sore throat, and subsequently developed an abscess and descending mediastinitis. We treated the cervical abscess using ampicillin/sulbactam and drainage, and GAS was subsequently isolated in two blood cultures from the patient's admission. Microbiological analyses revealed that the isolate harbored genotype emm25 and sequence type (ST) 660. This strain was susceptible to erythromycin (minimum inhibitory concentration [MIC]: ≤0.12 μg/mL), resistant to minocycline (MIC: >4 μg/mL), and possessed the tet(M) determinant. Although we have reviewed the literature regarding the clinical and microbiological characteristics of descending mediastinitis cause by GAS, little is known regarding epidemiological and clinical characteristics of emm25/ST660 GAS. Furthermore, to best of our knowledge, this is the first reported case of descending mediastinitis caused by emm25/ST660 GAS. Therefore, physicians should be aware of case with a cervical abscess and secondary descending mediastinitis caused by GAS infection, even if the patient is immunocompetent.

  18. Effect of the respiratory cycle on mediastinal and lung dimensions in Hodgkin's disease. Implications for radiotherapy gated to respiration

    SciTech Connect

    Willett, C.G.; Linggood, R.M.; Stracher, M.A.; Goitein, M.; Doppke, K.; Kushner, D.C.; Morris, T.; Pardy, J.; Carroll, R.

    1987-09-15

    Changes in mediastinal and lung dimensions during respiration were studied to assess the potential of radiotherapy gated to respiration to minimize normal tissue irradiation. Twelve patients with mediastinal Hodgkin's disease were assessed using chest radiographs and thoracic computed tomography (CT) scans both during quiet breathing and at maximum inspiration in the standing, supine, and prone positions. A simple measure of the bulk of mediastinal disease, the ratio of the width of mediastinal mass to thoracic diameter, was determined from posteroanterior (PA) chest radiographs. The volumes of mediastinum, irradiated and protected lung if anteroposterior (AP) and PA mantle fields were used were determined from sequential thoracic CT scans and three-dimensional treatment planning and compared at quiet breathing and deep inspiration. The mediastinal width to thoracic diameter ratio decreased from quiet breathing to deep inspiration an average of 3%, 9%, and 11% for the standing, supine, and prone positions, respectively. Lung volumes as measured from the thoracic CT scans showed that on average, 8% more lung was protected at deep inspiration than at quiet breathing, independent of treatment position. The maximum increase in the percentage of protected lung from quiet breathing to deep inspiration was seen in patients with extensive mediastinal adenopathy suggesting that radiotherapy gated to respiration may be most advantageous in the subset of patients.

  19. Abnormal Ion Permeation through Cystic Fibrosis Respiratory Epithelium

    NASA Astrophysics Data System (ADS)

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

    1983-09-01

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

  20. Best approach for posterior mediastinal goiter removal: transcervical incision and lateral thoracotomy.

    PubMed

    Ojanguren Arranz, Amaya; Baena Fustegueras, Juan Antonio; Ros López, Susana; Santamaría Gómez, Maite; Ojanguren Arranz, Iñigo; Olsina Kissle, Jorge Juan

    2014-06-01

    Surgical removal of intrathoracic goiter can be performed by a cervical approach in the majority of patients. Review of literature shows that experienced surgeons need to perform an extracervical approach in 2-3% of cases. In spite of surgical management of substernal goiter is well defined, there is little available information about surgical approach of intrathoracic goiters extending beyond the aortic arch into the posterior mediastinum. We report two cases and propose combination of cervical incision and muscle-sparing lateral thoracotomy for posterior mediastinal goiter removal. In such cases, we do not favour sternotomy as posterior mediastinum is inaccessible due to the presence of heart and great vessels anterior to the thyroidal mass that would lead to perform a perilous blind dissection. Based in our experience, transcervical and thoracotomy approach is indicated for a complete and safe posterior mediastinal goiter removal.

  1. Mediastinal mass and brachial plexopathy caused by subclavian arterial aneurysm in Behçet's disease.

    PubMed

    Yoo, W H; Kim, H K; Park, J H; Park, T S; Baek, H S

    2000-01-01

    Vascular involvement in Behçet's disease is divided into venous and arterial thrombosis and arterial aneurysmal formation. Subclavian arterial aneurysm rarely occurs in Behçet's disease; however, when it does occur, it causes serious aneurysmal rupture and local complications such as nerve compression and arterial ischemia. We describe the case of a 39-year-old male who presented with neurologic symptoms and signs of brachial plexopathy and mediastinal mass caused by Behçet's subclavian arterial aneurysm. This case shows that the occurrence of brachial plexopathy should be considered a manifestation of Behçet's disease, and that Behçet's aneurysm should be considered in the differential diagnosis of upper mediastinal mass.

  2. Cervical necrotizing fasciitis and acute mediastinitis of odontogenic origin: A case series

    PubMed Central

    Monsalve-Iglesias, Fernando; Cabello-Serrano, Almudena; Valencia-Laseca, Alfredo; Garcia-Medina, Blas

    2017-01-01

    Necrotising fasciitis (NF) is an uncommon infection. Early signs and symptoms include fever, severe pain and swelling, and redness at the wound site. Moreover, fulminant evolution and high mortality rate are typical of this pathology. In the present report we describes three cases of cervical necrotizing fasciitis complicated by acute mediastinitis. All patients were apparently immunocompetent adults. The main aim of the present report is to show the serious consequences that a dental infection might trigger. Furthermore, we highlight the importance of a multidisciplinary approach in these cases. The constant interaction between different medical specialties is essential for ensuring a proper management of each case. Key words:Cervical necrotizing fasciitis, acute mediastinitis, odontogenic origin , multidisciplinary approach. PMID:28149480

  3. Clinical evolution of mediastinitis in patients undergoing adjuvant hyperbaric oxygen therapy after coronary artery bypass surgery

    PubMed Central

    do Egito, Julyana Galvão Tabosa; Abboud, Cely Saad; de Oliveira, Aline Pâmela Vieira; Máximo, Carlos Alberto Gonçalves; Montenegro, Carolina Moreira; Amato, Vivian Lerner; Bammann, Roberto; Farsky, Pedro Silvio

    2013-01-01

    ABSTRACT Objective: To evaluate the use of hyperbaric oxygen therapy as an adjunctive treatment in mediastinitis after coronary artery bypass surgery. Methods: This is a retrospective descriptive study, performed between October 2010 and February 2012. Hyperbaric oxygen therapy was indicated in difficult clinical management cases despite antibiotic therapy. Results: We identified 18 patients with mediastinitis during the study period. Thirty three microorganisms were isolated, and polymicrobial infection was present in 11 cases. Enterobacteriaceae were the most prevalent pathogens and six were multi-resistant agents. There was only 1 hospital death, 7 months after the oxygen therapy caused by sepsis, unrelated to hyperbaric oxygen therapy. This treatment was well-tolerated. Conclusion: The initial data showed favorable clinical outcomes. PMID:24136762

  4. Facial, Cervical, and Mediastinal Emphysema of the Clarinet Player: Case Report

    PubMed Central

    Biçer, Yusuf Özgür; Kesgin, Selcan; Tezcan, Erkan; Köybaşı, Serap

    2014-01-01

    Background: Cervicofacial emphysema may arise due to the leakage of air from a defect in the aerodigestive tract to the fascial layers of neck and face. Rarely, it may be caused by insufflation of air through the Stensen’s duct. Case Report: We present a case with diffuse facial, cervical and mediastinal emphysema due to playing a wind instrument immediately after a facial trauma. There was no mucosal defect or laceration noticed by examination which could explain the origin of the emphysema. Despite the widespread cervicofacial emphysema with mediastinal involvement, the patient significantly improved within 48 hours without any intervention. Conclusion: Even though cervicofacial emphysema ameliorates spontaneously, increased care must be taken, especially when there is pneumomediastinum and/or pneumothorax. PMID:25667794

  5. An anterior mediastinal mass: delayed airway compression and using a double lumen tube for airway patency.

    PubMed

    Lee, Jeounghyuk; Rim, Yong Chul; In, Junyong

    2014-06-01

    Perioperative management of patients with an anterior mediastinal mass is difficult. We present a 35-year-old woman who showed delayed compression of the carina and left main bronchus despite no preoperative respiratory signs, symptoms, or radiologic findings due to an anterior mediastinal mass and uneventful stepwise induction of general anesthesia. Even use of a fiberoptic bronchoscope (FB) after induction of anesthesia was not helpful to predict delayed compression of the airway. Therefore, the anesthesiologist and the cardiothoracic surgeon must prepare for unexpected delayed compression of the airway, even in low risk patients who are asymptomatic or mildly symptomatic without postural symptoms or radiographic evidence of significant compression of structures. We also describe successful management for the compressed carina and left main bronchus with a double lumen tube (DLT) as a stent during surgery. FB guided DLT intubation is a possible solution to maintain airway patency.

  6. Clinicopathological analysis of mediastinal large B-cell lymphoma and classical Hodgkin lymphoma of the mediastinum.

    PubMed

    Yamamoto, Wataru; Nakamura, Naoya; Tomita, Naoto; Ishii, Yoshimi; Takasaki, Hirotaka; Hashimoto, Chizuko; Motomura, Shigeki; Yamazaki, Etsuko; Ohshima, Rika; Numata, Ayumi; Ishigatsubo, Yoshiaki; Sakai, Rika

    2013-05-01

    Primary mediastinal (thymic) large B-cell lymphoma (PMLBCL) and nodular sclerosing classical Hodgkin lymphoma (NSCHL) are the major histological types of lymphoma affecting the mediastinum. We reviewed 27 patients with PMLBCL and 14 patients with NSCHL. A poor performance status, high serum lactate dehydrogenase level and strong positivity for PAX5 were all significantly more common in patients with PMLBCL than in those with NSCHL. Severe fibrosis was frequent in NSCHL, but not in PMLBCL. PDL1 was expressed by 11/25 PMLBCLs (44.0%) vs. 1/9 NSCHLs (11.1%). Expression of BCL6 was significantly more frequent in PDL1-positive PMLBCL than in PDL1-negative PMLBCL, but there were no clinical differences between these two groups. Two patients with PMLBCL with a poor prognosis had CD20(-), CD79a(+), CD15(-), and CD30(-), possibly representing a subtype of mediastinal gray zone lymphoma.

  7. Primary mediastinal synovial sarcoma: a case report and review of the literature

    PubMed Central

    Freund, Martin; Zelger, Bettina; Putzer, Daniel; Bonatti, Hugo; Müller, Ludwig; Fiegl, Michael; Geltner, Christian

    2009-01-01

    Primary mediastinal synovial sarcoma is a rare malignancy with only a few cases reported so far. A 56-year-old woman was admitted to our hospital for an investigation of a nodule in the left middle lung on chest radiography. Computed tomography revealed a mediastinal mass first described as a solitary fibrous tumor. The diagnosis of synovial sarcoma was established by computed tomography-guided percutaneous needle biopsy. Work up showed no metastasis to distant organs or contralateral pleural cavity. The mass was surgically resected; pathological and immunohistochemical analyses confirmed the diagnosis of a monophasic spindle cell synovial sarcoma probably originating from phrenic nerve. The patient received adjuvant chemotherapy and radiation and is free of recurrence after a follow up of 16 months. PMID:19918499

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

    PubMed Central

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

    2015-01-01

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

  9. Sternitis and mediastinitis after coronary artery bypass grafting. Analysis of risk factors.

    PubMed Central

    Wouters, R; Wellens, F; Vanermen, H; De Geest, R; Degrieck, I; De Meerleer, F

    1994-01-01

    As part of a quality control program, we analyzed possible risk factors in the development of sternitis and mediastinitis after coronary artery bypass grafting. From 1 January 1990 through 31 December 1991, 1,368 consecutive coronary artery bypass grafting procedures were performed at our institution, either alone or in combination with other procedures. Twenty-three patients (1.7%) developed sternitis and/or mediastinitis; 7 (30.4%) of these patients died in an early postoperative phase. Univariate analysis revealed the following statistically significant (p < or = 0.05) risk factors: perfusion time, length of stay in operating room of longer than 5 hours 30 minutes, presence at the operation of a certain surgical resident, revision for bleeding, and postoperative mechanical ventilation lasting longer than 72 hours. After multivariate analysis, statistically significant independent risk factors were: diabetes mellitus, recent cigarette-smoking, reoperation, presence of a certain surgical resident at the operation, revision for bleeding, and length of mechanical ventilation of longer than 72 hours. The use of both internal thoracic arteries was not, in this study, shown to be an independent risk factor. We conclude that although the technique of using both internal thoracic arteries for myocardial revascularization carries no extra risk by itself in the development of sternitis or mediastinitis, associated factors such as prolonged stay in the operating room and reoperation could be responsible for a higher frequency of sternitis-mediastinitis in patients who have undergone this procedure. Therefore, it is advisable to use this technique selectively in high-risk patients. Close surveillance and reporting of wound infections is mandatory to detect risk factor related to the surgical staff (such as Staphylococcus aureus dissemination). PMID:8000263

  10. Distinguishing benign mediastinal masses from malignancy in a histoplasmosis-endemic region

    PubMed Central

    Naeem, Fouzia; Metzger, Monika L.; Arnold, Sandra R.; Adderson, Elisabeth E.

    2015-01-01

    Objective To describe the characteristics of benign and malignant mediastinal masses, which may predict their etiology and facilitate the safe and timely management of patients, especially those residing in histoplasmosis-endemic regions. Study design We conducted a retrospective review of the health records of 131 patients aged <19 years who were referred to two tertiary care children's hospitals from 2005-2010 for the evaluation of mediastinal masses. Results Most patients (79%) had benign masses, including 98 with confirmed or suspected histoplasmosis. Overall, patients with benign etiologies were younger, more likely to be African American, more likely to complain of cough and to have pulmonary nodules by chest computed tomographs than patients with cancer. Patients with malignant disease were more likely to complain of malaise and to have neck swelling, abnormal extrathoracic lymphadenopathy, lymphopenia, anterior mediastinal involvement and/or pleural effusion. Positive histoplasmosis serologic tests were specific but insensitive for a benign etiology. No single clinical, laboratory or radiologic feature was sufficiently sensitive and specific to distinguish between benign and malignant masses. For cancer, however, the presence of lymphopenia, anterior mediastinal involvement or enlarged cervical lymph nodes on computerized tomography had a sensitivity of 93%, specificity of 95%, positive predictive value of 86%, and negative predictive value of 97% for cancer. Sixty-four patients (49%) underwent invasive testing, including 37 (36%) of patients with benign masses. Conclusions Patients in this series who had involvement of the anterior mediastinum, lymphopenia or enlarged cervical lymph nodes had a high likelihood of cancer. Expectant management of patients lacking these characteristics may be safe and reduce unnecessary invasive testing. PMID:26009018

  11. Colorectal Cancer Metastasis to the Thymus Gland: Rare Presentation of Colorectal Cancer as Anterior Mediastinal Mass.

    PubMed

    Peters, H Charles; Liu, Xiuli; Iqbal, Atif; Cunningham, Lisa A; Tan, Sanda A

    2017-01-01

    Despite improved screening modalities, 15-25% of newly diagnosed colorectal cancers are metastatic at the time of diagnosis. The vast majority of these cases present as hepatic metastasis; however, 22% present with concomitant extrahepatic disease. The thymus gland is an uncommon site of metastasis for any primary malignancy, particularly, colorectal cancer given its vascular and lymphatic drainage. This case report details our experience with a rare case of colorectal cancer metastasis to the thymus gland presenting as a symptomatic mediastinal mass.

  12. Clinical Significance of Serum Biomarkers in Pediatric Solid Mediastinal and Abdominal Tumors

    PubMed Central

    Sandoval, John A.; Malkas, Linda H.; Hickey, Robert J.

    2012-01-01

    Childhood cancer is the leading cause of death by disease among U.S. children between infancy and age 15. Despite successes in treating solid tumors such as Wilms tumor, disappointments in the outcomes of high-risk solid tumors like neuroblastoma have precipitated efforts towards the early and accurate detection of these malignancies. This review summarizes available solid tumor serum biomarkers with a special focus on mediastinal and abdominal cancers in children. PMID:22312308

  13. [Esophageal perforation and mediastinitis caused by fishbone ingestion: report of 3 cases].

    PubMed

    Vásquez, Julio C; Montesinos, Efraín; Castillo, Luis; Rojas, Luis; Peralta, Julio

    2006-01-01

    We present 3 consecutive cases of fishbone perforation of the esophagus that resulted in acute mediastinitis. All patients were successfully managed with drainage and debridement of the mediastinum and pleural cavity. However, temporary exclusion with external ligation of the esophagus was also performed in one patient, with spontaneous recanalization two weeks later. We discuss the possible role of this surgical maneuver in the management of esophageal perforation.

  14. Total mechanical stapled oesophagogastric anastomosis on the neck in oesophageal cancer - prevention of postoperative mediastinal complications.

    PubMed

    Zieliński, Jacek; Jaworski, Radosław; Irga-Jaworska, Ninela; Haponiuk, Ireneusz; Jaśkiewicz, Janusz

    2015-12-01

    Oesophagogastric anastomosis after oesophagus resection is commonly performed on the neck. Even though a few different techniques of oesophagogastric anastomosis have been previously detailed, both manual and mechanical procedures have been burdened with leakages and strictures. Our simple technique of oesophagogastric anastomosis is a modification of mechanical anastomosis with the use of a circular stapler in order to prevent postoperative leak and concomitant mediastinal complications. Since 2008, we have performed nine oesophagogastric anastomoses following oesophagus resection. The mean age of the operated patients was 54 years. There was no mortality among the operated patients in the early post-operative period. The mean follow-up period for the patients operated on in our department was 17 months until the time of the analysis. None of the patients showed any leakage or stricture, and no mediastinal complications were reported in the group. Following our own experience, mechanical anastomosis with the use of a circular stapler seems to decrease the time of the operation as well as significantly reducing the incidence of leakages from the anastomosis. This type of anastomosis may decrease the number of postoperative strictures and the most dangerous mediastinal infections.

  15. Cervical necrotising fasciitis and descending mediastinitis secondary to unilateral tonsillitis: a case report

    PubMed Central

    Islam, Asad; Oko, Michael

    2008-01-01

    Introduction Cervical necrotizing fasciitis is an aggressive infection with high morbidity and mortality. We present a case of cervical necrotizing fasciitis and descending mediastinitis in a healthy young man, caused by unilateral tonsillitis with a successful outcome without aggressive debridement. Case presentation A 41-year-old man was admitted to our unit with a diagnosis of severe acute unilateral tonsillitis. On admission, he had painful neck movements and the skin over his neck was red, hot and tender. Computed tomography scan of his neck and chest showed evidence of cervical necrotizing fasciitis and descending mediastinitis secondary to underlying pharyngeal disease. He was treated with broad-spectrum intravenous antibiotics. His condition improved over the next 3 days but a tender and fluctuant swelling appeared in the suprasternal region. A repeat scan showed the appearance of an abscess extending from the pretracheal region to the upper mediastinum which was drained through a small transverse anterior neck incision. After surgery, the patient's condition quickly improved and he was discharged on the 18th day of admission. Conclusion Less invasive surgical techniques may replace conventional aggressive debridement as the treatment of choice for cervical necrotizing fasciitis and descending necrotizing mediastinitis. PMID:19055812

  16. Diagnostic yield of endobronchial ultrasound-guided transbronchial needle aspiration for mediastinal staging in lung cancer*

    PubMed Central

    Fernández-Bussy, Sebastián; Labarca, Gonzalo; Canals, Sofia; Caviedes, Iván; Folch, Erik; Majid, Adnan

    2015-01-01

    OBJECTIVE: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive diagnostic test with a high diagnostic yield for suspicious central pulmonary lesions and for mediastinal lymph node staging. The main objective of this study was to describe the diagnostic yield of EBUS-TBNA for mediastinal lymph node staging in patients with suspected lung cancer. METHODS: Prospective study of patients undergoing EBUS-TBNA for diagnosis. Patients ≥ 18 years of age were recruited between July of 2010 and August of 2013. We recorded demographic variables, radiological characteristics provided by axial CT of the chest, location of the lesion in the mediastinum as per the International Association for the Study of Lung Cancer classification, and definitive diagnostic result (EBUS with a diagnostic biopsy or a definitive diagnostic method). RESULTS: Our analysis included 354 biopsies, from 145 patients. Of those 145 patients, 54.48% were male. The mean age was 63.75 years. The mean lymph node size was 15.03 mm, and 90 lymph nodes were smaller than 10.0 mm. The EBUS-TBNA method showed a sensitivity of 91.17%, a specificity of 100.0%, and a negative predictive value of 92.9%. The most common histological diagnosis was adenocarcinoma. CONCLUSIONS: EBUS-TBNA is a diagnostic tool that yields satisfactory results in the staging of neoplastic mediastinal lesions. PMID:26176519

  17. Rationale for and Preliminary Results of Proton Beam Therapy for Mediastinal Lymphoma

    SciTech Connect

    Li Jing; Dabaja, Bouthaina; Reed, Valerie; Allen, Pamela K.; Cai, Haihong; Amin, Mayankkumar V.; Garcia, John A.; Cox, James D.

    2011-09-01

    Purpose: To evaluate the potential of three-dimensional proton beam therapy (3D-PBT) for reducing doses to normal structures in patients with mediastinal lymphomas compared with conventional photon radiation therapy (RT). Methods and Materials: We treated 10 consecutive patients with mediastinal masses from lymphomas with 3D-PBT between July 2007 and February 2009 to 30.6-50.4 cobalt-Gray equivalents (CGE). Of those patients, 7 had primary refractory or recurrent disease, and 8 had Hodgkin lymphoma. Dosimetric endpoints were compared with those from conventional RT plans. Results: PBT delivered lower mean doses to the lung (6.2 vs. 9.5 Gy), esophagus (9.5 vs. 22.3 Gy), and heart (8.8 vs. 17.7 Gy) but not the breasts (5.9 vs. 6.1 Gy) than did conventional RT. Percentages of lung, esophagus, heart, and coronary artery (particularly the left anterior descending artery) volumes receiving radiation were consistently lower in the 3D-PBT plans over a wide range of radiation doses. Of the 7 patients who had residual disease on positron emission tomography before PBT, 6 (86%) showed a complete metabolic response. Conclusions: In patients with mediastinal lymphomas, 3D-PBT produced significantly lower doses to the lung, esophagus, heart, and coronary arteries than did the current conventional RT. These lower doses would be expected to reduce the risk of late toxicities in these major organs.

  18. Complete atrioventricular block following mediastinal irradiation: A report of six cases

    SciTech Connect

    Slama, M.S.; Le Guludec, D.; Sebag, C.; Leenhardt, A.R.; Davy, J.M.; Pellerin, D.E.; Drieu, L.H.; Victor, J.; Brechenmacher, C.; Motte, G. )

    1991-07-01

    Complete atrioventricular block (AVB) following radiotherapy has been reported rarely, usually after high dose mediastinal irradiation for Hodgkin's disease or lung or breast carcinoma. The authors report six new cases of episodic complete infranodal AVB, requiring permanent pacemaker implantation. The mean age was 48-years old (ranging from 25-60) at the first Adams Stokes attack, mean delay was 12 years after irradiation (10-18), and mean radiation dose was 5,200 rads (4,000-6,500). All patients had abnormal interval electrocardiograms (right bundle branch block in two, left bundle branch block in three, alternating left and right bundle branch block in one). Electrocardiograms during the episode of AVB or Holter recordings were consistent with infranodal block in all patients; electrophysiological study performed in five patients confirmed infranodal AVB in four, and one was normal. Pericardial disease was constant, which included pericardial constriction in four patients. Two patients died after failure of pericardiectomy to improve congestive heart failure, due to epicardial, myocardial, and endocardial involvement. Noncardiac mediastinal lesions were present in four cases. Since this delayed complication may occur in patients of such age that the relation between the AVB and the chest irradiation is questionable, they propose the following etiologic criteria; high radiation dose (over 4,000 rads); delay of 10 years or more; abnormal interval tracings; pericardial involvement; and associated cardiac or mediastinal radiation-induced lesions.

  19. Emerging treatments in cystic fibrosis.

    PubMed

    Jones, Andrew M; Helm, Jennifer M

    2009-10-01

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

  20. [Azithromycin therapy in cystic fibrosis].

    PubMed

    Máiz Carro, Luis; Cantón Moreno, Rafael

    2004-03-06

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

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

    ERIC Educational Resources Information Center

    Goldberg, Richard T.; And Others

    1980-01-01

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

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

    PubMed

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

    2015-08-01

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

  3. Fetal case of congenital cystic adenomatoid malformation of the lung: fetal therapy and a review of the published reports in Japan.

    PubMed

    Asabe, Koushi; Oka, Yoichiro; Shirakusa, Takayuki

    2005-09-01

    We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks' gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks' gestation. Following a postnatal whole resection of the right lung, postpneumonectomy syndrome appeared and, as a result, the infant died 13 months after delivery due to respiratory failure. Only 19 cases demonstrating CCAML associated with NIHF have been reported previously in Japan. Four cases showed a spontaneous resolution of NIHF, while 5 cases with type I CCAML, which all underwent fetal intervention, demonstrated an excellent outcome.

  4. Cystic duct carcinoma mimicking a middle bile duct tumour

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

    Bruun, Lene Søndberg; Jensen, Michael Skov

    2002-05-06

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

  7. 78 FR 26681 - Medical Criteria for Evaluating Cystic Fibrosis

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-07

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

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

    ERIC Educational Resources Information Center

    Cystic Fibrosis Foundation, Atlanta, GA.

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

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

    PubMed

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

    2003-01-01

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

  10. Florid cystic endosalpingiosis of the uterus

    PubMed Central

    Heatley, M; Russell, P

    2001-01-01

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

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

    PubMed

    Kurian, Jujju Jacob; Ninan, Pradeep Joseph

    2015-04-15

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

  12. Venous thromboembolism in cystic fibrosis.

    PubMed

    Takemoto, Clifford M

    2012-02-01

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

  13. Cystic angiomatosis, a heterogeneous condition

    PubMed Central

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

    2016-01-01

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

  14. Cystic echinococcosis in Southern Israel.

    PubMed

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

    2016-01-01

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

  15. Management Issues for Adolescents with Cystic Fibrosis

    PubMed Central

    Withers, Adelaide Lindsay

    2012-01-01

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

  16. Genetics of Cystic Fibrosis: Clinical Implications.

    PubMed

    Egan, Marie E

    2016-03-01

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

  17. Diagnosis of Adult Patients with Cystic Fibrosis.

    PubMed

    Nick, Jerry A; Nichols, David P

    2016-03-01

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

  18. The Cystic Fibrosis of Exocrine Pancreas

    PubMed Central

    Wilschanski, Michael

    2013-01-01

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

  19. Precision genomic medicine in cystic fibrosis

    PubMed Central

    Chang, Eugene H.; Zabner, Joseph

    2015-01-01

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

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

    NASA Technical Reports Server (NTRS)

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

    2002-01-01

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

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

    PubMed

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

    2011-11-01

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

  2. Cardiac Magnetic Resonance Imaging Findings in 20-year Survivors of Mediastinal Radiotherapy for Hodgkin's Disease

    SciTech Connect

    Machann, Wolfram; Beer, Meinrad; Breunig, Margret; Stoerk, Stefan; Angermann, Christiane; Seufert, Ines; Schwab, Franz; Koelbl, Oliver; Flentje, Michael; Vordermark, Dirk

    2011-03-15

    Purpose: The recognition of the true prevalence of cardiac toxicity after mediastinal radiotherapy requires very long follow-up and a precise diagnostic procedure. Cardiac magnetic resonance imaging (MRI) permits excellent quantification of cardiac function and identification of localized myocardial defects and has now been applied to a group of 20-year Hodgkin's disease survivors. Methods and materials: Of 143 patients treated with anterior mediastinal radiotherapy (cobalt-60, median prescribed dose 40 Gy) for Hodgkin's disease between 1978 and 1985, all 53 survivors were invited for cardiac MRI. Of those, 36 patients (68%) presented for MRI, and in 31 patients (58%) MRI could be performed 20-28 years (median, 24) after radiotherapy. The following sequences were acquired on a 1.5-T MRI: transversal T1-weighted TSE and T2-weighted half-fourier acquisition single-shot turbo-spin-echo sequences, a steady-state free precession (SSFP) cine sequence in the short heart axis and in the four-chamber view, SSFP perfusion sequences under rest and adenosine stress, and a SSFP inversion recovery sequence for late enhancement. The MRI findings were correlated with previously reconstructed doses to cardiac structures. Results: Clinical characteristics and reconstructed doses were not significantly different between survivors undergoing and not undergoing MRI. Pathologic findings were reduced left ventricular function (ejection fraction <55%) in 7 (23%) patients, hemodynamically relevant valvular dysfunction in 13 (42%), late myocardial enhancement in 9 (29%), and any perfusion deficit in 21 (68%). An association of regional pathologic changes and reconstructed dose to cardiac structures could not be established. Conclusions: In 20-year survivors of Hodgkin's disease, cardiac MRI detects pathologic findings in approximately 70% of patients. Cardiac MRI has a potential role in cardiac imaging of Hodgkin's disease patients after mediastinal radiotherapy.

  3. In patients with post-sternotomy mediastinitis is vacuum-assisted closure superior to conventional therapy?

    PubMed

    Yu, Angela W; Rippel, Radoslaw A; Smock, Elliott; Jarral, Omar A

    2013-11-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was whether vacuum-assisted closure therapy (VAC) is superior to conventional therapy for treating post-sternotomy mediastinitis. Altogether >261 papers were found using the reported search, of which 9 represented the best evidence to answer the clinical question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated. Several studies indicate that VAC therapy is associated with shorter lengths of intensive care and in-hospital stay as well as faster rates of wound healing and fewer dressing changes. It has also been shown that VAC therapy is correlated with a statistically significant reduction in reinfection rates, particularly those that occur in the early postoperative period (at the 1-week follow-up). Patients can be discharged with the dressing in situ and managed in the community with a view to delayed closure or reconstruction. However, the studies comparing VAC with conventional therapy are all retrospective in nature and reinforce the need for randomized controlled trials in order to more accurately establish differences in outcomes between VAC and conventional therapy. Additionally, owing tło the variability of treatment protocols within the non-VAC arm, it is more challenging to draw definitive conclusions regarding the superiority of VAC therapy to every modality that is considered conventional treatment. We conclude that VAC therapy is a portable and an increasingly economical option for the treatment of post sternotomy mediastinitis. Although reductions in mortality rates were not reproduced in all studies, evidence suggests that VAC should still be considered as a first-line therapy for post-sternotomy mediastinitis and as a bridge therapy to musculocutaneous reconstruction or primary closure.

  4. The Usefulness of Positron-Emission Tomography Findings in the Management of Anterior Mediastinal Tumors

    PubMed Central

    Sano, Fumitoshi; Ohashi, Shinichi; Suzuki, Kosuke; Uematsu, Shugo; Suzuki, Takashi; Kadokura, Mitsutaka

    2017-01-01

    Purpose: We performed a retrospective analysis to evaluate the usefulness of positron-emission tomography/computed tomography (PET/CT) findings in the classification and management of anterior mediastinal tumors. Methods: Between 2006 and 2015, 105 patients with anterior mediastinal tumor received PET/CT. 18F-fluorodeoxyglucose (18F-FDG)-PET images were obtained 60 minutes after the injection of 18F-FDG. Results: The histological classifications were as follows: thymoma (n = 49), thymic carcinoma (TC) (n = 19), malignant lymphoma (ML) (n = 8), teratoma (n = 7), thymic cyst (n = 14), and others (n = 8). Upon visual inspection (SUV max: >2.0), all of the malignant tumors showed 18F-FDG accumulation (with the exception of one type A thymoma). Two of the 14 thymic cysts and three of the seven teratomas showed slight 18F-FDG accumulation. The SUV max values of the low-grade thymomas, high-grade thymomas, TCs and MLs were 3.14 ± 0.73, 4.34 ± 1.49, 8.59 ± 3.05, and 10.08 ± 2.53, respectively, with significant differences between the low- and high-grade thymomas, and between TCs and MLs. The sensitivity, specificity and accuracy of 18F-FDG in the detection of low-grade thymomas and thymomas with a maximum diameter of ≤50 mm and an SUV max of ≤3.4 were 85%, 48%, and 60%, respectively. Conclusion: FDG-PET/CT is an objective and useful modality in the differential diagnosis and management of anterior mediastinal tumors. PMID:28123154

  5. Motion Analysis of 100 Mediastinal Lymph Nodes: Potential Pitfalls in Treatment Planning and Adaptive Strategies

    SciTech Connect

    Pantarotto, Jason R.; Piet, Anna H.M.; Vincent, Andrew; Soernsen de Koste, John R. van; Senan, Suresh

    2009-07-15

    Purpose: The motion of mediastinal lymph nodes may undermine local control with involved-field radiotherapy. We studied patterns of nodal and tumor motion in 41 patients with lung cancer. Methods and Materials: Four-dimensional (4D) computed tomography planning scans were retrospectively evaluated to identify patients with clearly visible mediastinal lymph nodes. One hundred nodes from 14 patients with Stage I and 27 patients with Stage III were manually contoured in all 4D computed tomography respiratory phases. Motion was derived from changes in the nodal center-of-mass position. Primary tumors were also delineated in all phases for 16 patients with Stage III disease. Statistical analysis included a multivariate mixed-effects model of grouped data. Results: Average 3D nodal motion during quiet breathing was 0.68 cm (range, 0.17-1.64 cm); 77% moved greater than 0.5 cm, and 10% moved greater than 1.0 cm. Motion was greatest in the lower mediastinum (p = 0.002), and nodes measuring 2 cm or greater in diameter showed motion similar to that in smaller nodes. In 11 of 16 patients studied, at least one node moved more than the corresponding primary tumor. No association between 3D primary tumor motion and nodal motion was observed. For mobile primary tumors, phase offsets between the primary tumor and nodes of two or more and three or more phases were observed for 33% and 12% of nodes, respectively. Conclusions: Mediastinal nodal motion is common, with phase offsets seen between the primary tumor and different nodes in the same patient. Patient-specific information is needed to ensure geometric coverage, and adaptive strategies based solely on the primary tumor may be misleading.

  6. Mediastinal micro-vessels clipping during lymph node dissection may contribute to reduce postoperative pleural drainage

    PubMed Central

    Yan, Shi; Wang, Xing; Lv, Chao; Phan, Kevin; Wang, Yuzhao; Wang, Jia; Yang, Yue

    2016-01-01

    Background Postoperative pleural drainage markedly influences the length of postoperative stay and financial costs of medical care. The aim of this study is to retrospectively investigate potentially predisposing factors related to pleural drainage after curative thoracic surgery and to explore the impact of mediastinal micro-vessels clipping on pleural drainage control after lymph node dissection. Methods From February 2012 to November 2013, 322 consecutive cases of operable non-small cell lung cancers (NSCLC) undergoing lobectomy and mediastinal lymph node dissection with or without application of clipping were collected. Total and daily postoperative pleural drainage were recorded. Propensity score matching (1:2) was applied to balance variables potentially impacting pleural drainage between group clip and group control. Analyses were performed to compare drainage volume, duration of chest tube and postoperative hospital stay between the two groups. Variables linked with pleural drainage in whole cohort were assessed using multivariable logistic regression analysis. Results Propensity score matching resulted in 197 patients (matched cohort). Baseline patient characteristics were matched between two groups. Group clip showed less cumulative drainage volume (P=0.020), shorter duration of chest tube (P=0.031) and postoperative hospital stay (P=0.022) compared with group control. Risk factors significantly associated with high-output drainage in multivariable logistic regression analysis were being male, age >60 years, bilobectomy/sleeve lobectomy, pleural adhesion, the application of clip applier, duration of operation ≥220 minutes and chylothorax (P<0.05). Conclusions This study suggests that mediastinal micro-vessels clipping during lymph node dissection may reduce postoperative pleural drainage and thus shorten hospital stay. PMID:27076936

  7. Response of the mediastinal and thoracic viscera of the dog to intraoperative radiation therapy (IORT)

    SciTech Connect

    Barnes, M.; Pass, H.; DeLuca, A.; Tochner, Z.; Potter, D.; Terrill, R.; Sindelar, W.F.; Kinsella, T.J.

    1987-03-01

    IORT may be a potentially useful adjunctive treatment combined with surgery and/or external beam irradiation in treating locally advanced lung and esophageal tumors. To begin investigation of this modality, the tolerance of intact mediastinal structures to IORT was studied using adult American Foxhounds (wt. 25-30 kg). Groups of six animals received IORT to doses of 20, 30, or 40 Gy to two separate intrathoracic ports, using 9 MeV electrons to treat a portion of the collapsed right upper lobe, and 12 MeV electrons to treat the mediastinal structures. A group of three dogs received thoracotomy with sham irradiation. Two dogs from each treatment dose group, as well as one sham-irradiated control, were sacrificed electively at 1, 3, and 12 months following IORT. There were no acute nor late IORT related mortalities. Post-operative weight loss was minimal (average 4.5% of pre-operative weight) for all dogs. Serial esophagrams showed no inflammation or ulceration. No cardiac nor pulmonary changes were noted clinically. At autopsy, the irradiated lung showed evidence of acute pneumonitis at 1 month with progressive fibrosis at 3 months and 1 year. Esophageal reactions were minimal, with only two dogs (one 30 Gy and one 40 Gy) demonstrating histologically confirmed esophagitis at 1 month. Tracheal changes were minimal. Cardiac damage was evident in the right atrial tissues. In several dogs, this cardiac damage ranged from myocardial vascular changes to frank ischemic necrosis noted at 1 and 3 months, and dense fibrosis at 1 year. The phrenic nerves showed normal function, but had evidence of perineural fibrosis. The large vessels demonstrated only mild histologic evidence of irradiation. The results of this large animal study suggest that intact mediastinal structures will tolerate small volume IORT to doses of 20 Gy without significant clinical sequellae. (Abstract Truncated)

  8. Cystic lesion around the hip joint

    PubMed Central

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

    2015-01-01

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

  9. Diabetes mellitus in patients with cystic fibrosis.

    PubMed

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

    2007-01-01

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

  10. Nutritional assessment in children with cystic fibrosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  11. Zinc supplementation in children with cystic fibrosis

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  12. Ivacaftor for patients with cystic fibrosis.

    PubMed

    Wainwright, Claire E

    2014-10-01

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

  13. Exercise is medicine in cystic fibrosis.

    PubMed

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

    2011-07-01

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

  14. Craniofacial morphology in children with cystic fibrosis.

    PubMed

    Hellsing, E; Brattström, V; Strandvik, B

    1992-04-01

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

  15. [New prospects in cystic fibrosis treatment].

    PubMed

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

    1997-04-01

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

  16. Hemomediastinum due to spontaneous rupture of a mediastinal bronchial artery aneurysm – A rare cause of thoracic pain

    PubMed Central

    Vosse, B.A.H.; van Belle, A.F.; de Vries, G.J.; Das, M.

    2014-01-01

    Hemomediastinum is a rare pathological event. Multiple underlying causes and contributory factors can be identified, such as trauma, malignancy, iatrogenic, bleeding disorder or mediastinal organ hemorrhage. Also, a mediastinal bronchial artery aneurysm may be the source of a hemomediastinum. Hemoptysis is an important directive symptom, however occasionally, patients only present with thoracic pain or symptoms related to extrinsic compression of the airways or esophagus. Using contrast-enhanced computed tomography (CT) of the chest, hemomediastinum can be adequately diagnosed, and the involved vascular structures can be revealed. In case of a (ruptured) bronchial artery aneurysm, transcatheter embolization provides a minimally invasive procedure and is treatment of first choice. In this case report, a 76-year-old female is presented with spontaneous rupture of a mediastinal bronchial artery aneurysm resulting in hemomediastinum causing thoracic pain. Superselective embolization of the left bronchial artery was successfully performed. PMID:26029533

  17. Mediastinal teratoma in a free-ranging American black bear (Ursus americanus).

    PubMed

    Munk, Brandon A; Turner, J Chris; Keel, M Kevin

    2013-12-01

    A 2.75-yr-old female American black bear (Ursus americanus) was found emaciated and unable to rise. It was euthanized due to the perceived poor prognosis. An approximately 18 x 8 x 10-cm, multiloculated, well-demarcated mass that extended from the bifurcation of the trachea, laterally displacing the lung lobes and caudally displacing the heart. The mass contained fibrous connective tissue, cartilage, bone, nervous tissue, smooth muscle, and a variety of epithelial structures. A mediastinal teratoma was diagnosed based on the microscopic features of the neoplasm.

  18. Left atrial mass 16 years after radiation therapy for mediastinal neuroblastoma

    SciTech Connect

    Ensing, G.J.; Driscoll, D.J.; Smithson, W.A.

    1987-01-01

    Tumors involving the heart during childhood are rare. However, neuroblastoma, a common pediatric malignancy, has been described to involve the cardiovascular system in 3%-12% of patients dying with this tumor. Rarely is such involvement diagnosed ante mortem and never, to our knowledge, has a benign cardiac tumor been reported to present in childhood after successful eradication of neuroblastoma. We describe the identification and surgical resection of a nodular, hypertrophied, calcified, pedunculated left atrial mass in a 16-year-old boy who was complaining of exercise-associated presyncope and headaches 16 years after irradiation and chemotherapy for mediastinal neuroblastoma.

  19. Colorectal Cancer Metastasis to the Thymus Gland: Rare Presentation of Colorectal Cancer as Anterior Mediastinal Mass

    PubMed Central

    Peters, H. Charles; Liu, Xiuli; Iqbal, Atif; Cunningham, Lisa A.

    2017-01-01

    Despite improved screening modalities, 15–25% of newly diagnosed colorectal cancers are metastatic at the time of diagnosis. The vast majority of these cases present as hepatic metastasis; however, 22% present with concomitant extrahepatic disease. The thymus gland is an uncommon site of metastasis for any primary malignancy, particularly, colorectal cancer given its vascular and lymphatic drainage. This case report details our experience with a rare case of colorectal cancer metastasis to the thymus gland presenting as a symptomatic mediastinal mass. PMID:28116210

  20. Complete Obstruction of Endotracheal Tube in an Infant with a Retropharyngeal and Anterior Mediastinal Abscess

    PubMed Central

    Greene, Nathaniel H.

    2017-01-01

    Intraoperative ventilatory failure is not an uncommon complication; however, acute endotracheal obstruction by a foreign body or blood clot can be difficult to quickly discriminate from other causes. Once the diagnosis is made, quick action is needed to restore ventilation. The ultimate solution is to exchange the endotracheal tube; however, there can be other ways of resolving this in situations where reintubation would be difficult or unsafe. This case report discusses such an event in an infant with multiple airway challenges including a retropharyngeal and anterior mediastinal abscess. We have also formulated a pathway based on various case reports involving complete ETT obstruction. PMID:28299222

  1. Diagnostic performance of convex probe EBUS-TBNA in patients with mediastinal and coexistent endobronchial or peripheral lesions

    PubMed Central

    Verma, Akash; Goh, Kee San; Phua, Chee Kiang; Sim, Wen Yuan; Tee, Kuan Sen; Lim, Albert Y.H.; Tai, Dessmon Y.H.; Goh, Soon Keng; Kor, Ai Ching; Ho, Benjamin; Lew, Sennen J.W.; Abisheganaden, John

    2016-01-01

    Abstract To compare the performance of convex probe endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA) with conventional endobronchial biopsy (EBB) or transbronchial lung biopsy (TBLB) in patients with mediastinal, and coexisting endobronchial or peripheral lesions. Retrospective review of records of patients undergoing diagnostic EBUS-TBNA and conventional bronchoscopy in 2014. A total of 74 patients had mediastinal, and coexisting endobronchial or peripheral lesions. The detection rate of EBUS-TBNA for mediastinal lesion >1 cm in short axis, EBB for visible exophytic type of endobronchial lesion, and TBLB for peripheral lesion with bronchus sign were 71%, 75%, and 86%, respectively. In contrast, the detection rate of EBUS-TBNA for mediastinal lesion ≤1 cm in short axis, EBB for mucosal hyperemia type of endobronchial lesion, and TBLB for peripheral lesion without bronchus sign were 25%, 63%, and 38%, and improved to 63%, 88%, and 62% respectively by adding EBB or TBLB to EBUS-TBNA, and EBUS-TBNA to EBB or TBLB. Postprocedure bleeding was significantly more common in patients undergoing EBB and TBLB 8 (40%) versus convex probe EBUS-TBNA 2 patients (2.7%, P = 0.0004). EBUS-TBNA is a safer single diagnostic technique compared with EBB or TBLB in patients with mediastinal lesion of >1 cm in size, and coexisting exophytic type of endobronchial lesion, or peripheral lesion with bronchus sign. However, it requires combining with EBB or TBLB and vice versa to optimize yield when mediastinal lesion is ≤1 cm in size, and coexisting endobronchial and peripheral lesions lack exophytic nature, and bronchus sign, respectively. PMID:27977603

  2. Mediastinal gray zone lymphoma: clinico-pathological characteristics and outcomes of 99 patients from the Lymphoma Study Association.

    PubMed

    Sarkozy, Clémentine; Molina, Thierry; Ghesquières, Hervé; Michallet, Anne-Sophie; Dupuis, Jehan; Damotte, Diane; Morsschauser, Franck; Parrens, Marie; Martin, Laurent; Dartigues, Peggy; Stamatoullas, Aspasia; Hirsch, Pierre; Fabiani, Bettina; Bouabdallah, Krimo; da Silva, Maria Gomes; Maerevoet, Marie; Laurent, Camille; Coiffier, Bertrand; Salles, Gilles; Traverse-Glehen, Alexandra

    2017-01-01

    Mediastinal gray zone lymphoma, B-cell lymphomas with intermediate features between classical Hodgkin lymphoma and primary mediastinal B-cell lymphoma, have not been well described in the literature. We report the clinical characteristics and outcomes of a large retrospective series of 99 cases centrally reviewed by a panel of hematopathologists, with a consensus established for the diagnosis. Cases were defined as classical Hodgkin lymphoma-like morphology (64.6%) with primary mediastinal B-cell lymphoma immunophenotype, primary mediastinal B-cell lymphoma-like morphology (30.3%) with classical Hodgkin lymphoma or composite (5.1%) (synchronous occurrence of classical Hodgkin lymphoma and primary mediastinal B-cell lymphoma). The median age was 32 years (13-83 years); 55% were women. Thirteen of 81 evaluable cases (16%) were Epstein-Barr virus-positive. Twenty-eight percent of patients presented primary refractory disease (progression under first-line treatment or relapse within one year). The 3-year event-free and overall survival rates were 63% and 80%, respectively. Patients treated with a standard regimen (RCHOP/ABVD) had worse event-free survival (P=0.003) and overall survival (P=0.02) than those treated with a dose-intensive chemotherapy (high-dose RCHOP/escalated BEACOPP). Rituximab added to chemotherapy was not associated with better event-free survival (P=0.55) or overall survival (P=0.88). Radiotherapy for patients in complete remission had no impact on event-free survival. In multivariate prognostic analysis, ECOG-PS and anemia were the strongest factors associated with a shorter event-free survival and overall survival, respectively. In conclusion, this report describes the largest series of mediastinal gray zone lymphoma. Our data suggest that a dose-intensive treatment might improve the outcome of this rare and aggressive disease.

  3. Mediastinal gray zone lymphoma: clinico-pathological characteristics and outcomes of 99 patients from the Lymphoma Study Association

    PubMed Central

    Sarkozy, Clémentine; Molina, Thierry; Ghesquières, Hervé; Michallet, Anne-Sophie; Dupuis, Jehan; Damotte, Diane; Morsschauser, Franck; Parrens, Marie; Martin, Laurent; Dartigues, Peggy; Stamatoullas, Aspasia; Hirsch, Pierre; Fabiani, Bettina; Bouabdallah, Krimo; da Silva, Maria Gomes; Maerevoet, Marie; Laurent, Camille; Coiffier, Bertrand; Salles, Gilles; Traverse-Glehen, Alexandra

    2017-01-01

    Mediastinal gray zone lymphoma, B-cell lymphomas with intermediate features between classical Hodgkin lymphoma and primary mediastinal B-cell lymphoma, have not been well described in the literature. We report the clinical characteristics and outcomes of a large retrospective series of 99 cases centrally reviewed by a panel of hematopathologists, with a consensus established for the diagnosis. Cases were defined as classical Hodgkin lymphoma-like morphology (64.6%) with primary mediastinal B-cell lymphoma immunophenotype, primary mediastinal B-cell lymphoma-like morphology (30.3%) with classical Hodgkin lymphoma or composite (5.1%) (synchronous occurrence of classical Hodgkin lymphoma and primary mediastinal B-cell lymphoma). The median age was 32 years (13–83 years); 55% were women. Thirteen of 81 evaluable cases (16%) were Epstein-Barr virus-positive. Twenty-eight percent of patients presented primary refractory disease (progression under first-line treatment or relapse within one year). The 3-year event-free and overall survival rates were 63% and 80%, respectively. Patients treated with a standard regimen (RCHOP/ABVD) had worse event-free survival (P=0.003) and overall survival (P=0.02) than those treated with a dose-intensive chemotherapy (high-dose RCHOP/escalated BEACOPP). Rituximab added to chemotherapy was not associated with better event-free survival (P=0.55) or overall survival (P=0.88). Radiotherapy for patients in complete remission had no impact on event-free survival. In multivariate prognostic analysis, ECOG-PS and anemia were the strongest factors associated with a shorter event-free survival and overall survival, respectively. In conclusion, this report describes the largest series of mediastinal gray zone lymphoma. Our data suggest that a dose-intensive treatment might improve the outcome of this rare and aggressive disease. PMID:27758822

  4. Treatment of stage i and ii mediastinal Hodgkin disease: a comparison of involved fields, extended fields, and involved fields followed by MOPP in patients stage by laparotomy

    SciTech Connect

    Hagemeister, F.B.; Fuller, L.M.; Sullivan, J.A.; North, L.; Velasquez, W.; Conrad, F.G.; McLaughlin, P.; Butter, J.J.; Shullenberger, C.C.

    1981-12-01

    Three treatment programs for Stage I and II mediastinal Hodgkin disease (established by laparotomy) were compared. Involved-field radiotherapy + MOPP gave a disease-free survival rate of 97%, significantly different from 62% and 55% for involved and extended fields, respectively. Corresponding survival figures of 97%, 88%, and 84% were not signiticantly different statistically due to salvage with radiotherapy and/or chemotherapy. Among patients given radiotherapy alone, the survival figure of 94% for limited mediastinal disease was significantly better than 63% for extensive mediastinal and hilar disease; corresponding disease-free figures of 72% and 35% were also significantly different. Constitutional symptoms were an important prognostic factor in disease-free survival following the use of involved fields; hilar disease was important only with large mediastinal masses. Most relapses were intrathoracic; MOPP alone salvaged only 47%. Treatment of State I and II Hodgkin disease should be based on symptoms, extent of mediastinal disease, and hilar involvement.

  5. Hoarseness of voice, respiratory distress and dysphagia due to giant primary posterior mediastinal ectopic goitre: a rare clinical entity.

    PubMed

    Chaudhry, Ikram Ulhaq; Cheema, Ahsan Iqbal; AlShamasi, Zahra; Mutairi, Hadi

    2016-04-25

    Primary posterior mediastinal ectopic goitre is an extremely rare entity; we report a case of a 28-year-old man who presented with dysphagia, respiratory distress and hoarseness of voice, gradually worsening over a period of 3 months. CT scan of the thorax revealed a giant posterior mediastinal ectopic goitre. The mass was removed through a right posterolateral thoracotomy. The patient's symptoms, respiratory distress and dysphagia disappeared immediately after surgery while his voice gradually returned to normal after 6 weeks.

  6. Successfully treated descending necrotizing mediastinitis through thoracotomy using a pedicled muscular serratus anterior flap.

    PubMed

    Haremza, Céline; De Dominicis, Florence; Merlusca, Geoni; Berna, Pascal

    2011-10-01

    Descending necrotizing mediastinitis (DNM) is rare and aggressive. A 68-year-old female with no medical history, was admitted to our institution for cervical cellulitis. After a conventional medical treatment, multiple abscesses of the upper mediastinum appeared on computed tomography (CT) findings. Although two cervicotomies were performed, a new necrotic abscess appeared in the anterior upper and middle mediastinum. An extensive debridement of cellulitis and abscess extended to the pericardium was made by thoracotomy. Middle mediastinum and pericardium were covered and reconstructed by a right pedicled serratus anterior flap. After radical surgery, follow-up was uneventful. Early extensive and complete debridement of cervical and mediastinal collections and irrigation with broad-spectrum intravenous antibiotics is essential. Combined surgery is the best approach in DNM. The use of a pedicled muscular flap helps control the sepsis. In such cases, serratus anterior flap is a flap of choice because it is reliable and always available even in a skinny patient, contrary to omentum. In this life-threatening disease, an early aggressive combined surgery with debridement of all necrotic tissues extended to the pericardium if necessary associated with a pedicled flap is mandatory.

  7. [Primary mediastinal large B-cell lymphoma in women: about five cases].

    PubMed

    Ouassou, Safaa; Herrak, Laila; Achachi, Leila; Nachite, Fatima; Znati, Kaoutar; Ftouh, Mustapha El

    2016-01-01

    Primary mediastinal large B-cell lymphoma (PMBL) is a lymphoma occurring in the anterior mediastinum starting from the cells B of the thymique medullary zone. This is a rare entity characterized by epidemiological, clinical and evolutionary peculiarities as well as by pathological and immunohistochemical peculiarities. We report a case series of 5 patients with diagnosed PMBL hospitalized in Pulmonology Department of Ibn Sina Hospital between January 2012 and May 2016. The average age was 34 years, the median of consultation time was 2 months. Reported symptoms were dyspnea, chest pain, dry cough; two patients suffered from superior vena cava syndrome. LDH level was high in 4 patients. Thoracic imaging showed an anterior mediastinal tissue processing in 5 patients. Histological diagnosis was based on ultrasound-guided transparietal puncture biopsy in 5 patients. The contribution of immunohistochemistry was decisive in all cases. Patients were sent to the National Institute of Oncology for therapeutic management. PMBL prognosis is reserved, it most commonly occurs in young women, which increases the need of aggressive therapy to improve survival rate.

  8. [Mediastinal teratoma with malignant transformation of the somatic component. Clinical report].

    PubMed

    Gerardo, Rita; Morgado, Carolina; Calvo, Dolores; Pinto, Eugénia; Bravio, Ivan; Castelão, Nelson; Martelo, Fernando

    2009-01-01

    Mediastinal germ cell tumours (M-GCT) are rare forms of neoplasms compared with other tumours of the same location. They are classified in seminomas, malignant non-seminomatous GCT and teratomas. The malignant transformation of the somatic component of the teratoma, with sarcomatous or carcinomatous degeneration, is even more uncommon. We report the clinical case of a 32 year old man who presented with severe chest pain on the right hemithorax. The image exams revealed the existence of a large heterogeneous lesion with a diameter of 7.7 cm, with areas of lipomatous density and a calcic image with the appearance of a tooth, in the right projection of the anterior mediastinum, in the vicinity of the large vessels, compatible with teratoma. The transthoracic biopsy (CT guided) showed morphologic aspects of sarcoma. The patient was operated on with the en bloc resection of the mediastinal mass, right lung, a segment of the pericardium and the thymus. The pathological studies showed a teratoma with malignant transformation of the mesenquimatous component, with muscular differentiation into leiomiosarcoma and rabdomiosarcoma. After surgery, the patient was treated with a scheme of doxorubicin and ifosfamide. The most prominent concepts related to this clinical entity, as well as its treatment, are debated in this article, based on the most recent publications dedicated to the subject.

  9. [Paraneoplastic limbic encephalitis with positive anti-RI antibodies and mediastinal seminoma].

    PubMed

    Launay, M; Bozzolo, E; Venissac, N; Delmont, E; Fredenrich, A; Thomas, P

    2008-01-01

    We report the case of a 49-year-old man who was admitted for progressive behaviorial disorders with frontal elements. There was no sensorial nor motor deficiency. Clinical examination revealed android obesity, cutaneous and mucous paleness, pubic and axillary depilation and gynecomastia. Encephalic MRI found a lesion of the left amygdalian region with high T2 intensity and low T1 intensity associated with gadolinium-enhancement. Cerebrospinal fluid analysis showed a lymphocytic meningitis. Panhypopituitarism was found on the endocrine investigations. Anti-RI antibodies were positive, leading to the diagnosis of paraneoplastic limbic encephalitis. The CT-scan showed a node of the lower part of the thymic area. Surgical resection revealed an ectopic mediastinal seminoma. The evolution consisted of paraneoplastic fever and crossed-syndrome with right hemiparesia and left common oculomotor nerve paralysis. Treatment was completed by two cycles of carboplatin, corticosteroids and substitutive opotherapy. Paraneoplastic fever disappeared, but behavioral disorders and palsy remain unchanged. The patient died two years later in a bedridden state. This case of paraneoplastic limbic encephalitis associated with positive anti-RI antibodies and mediastinal seminoma is exceptional and has not to our knowledge been described in the literature. Cancers usually associated with anti-RI antibody are breast and lung cancer. Paraneoplastic limbic encephalitis is not the classical clinical presentation, which usually is brainstem encephalitis. Hypothalamic involvement, uncommon in paraneoplastic limbic encephalitis is mainly associated with positive antineuronal anti-Ma2 antibodies. Finally, the gadolinium enhancement on encephalic MRI is unusual in paraneoplastic limbic encephalitis.

  10. Predictive Factors of Superior Mediastinal Nodal Metastasis from Papillary Thyroid Carcinoma—A Prospective Observational Study

    PubMed Central

    Woo, Joo Hyun; Park, Ki Nam; Lee, Jae Yong; Lee, Seung Won

    2016-01-01

    Objectives The purpose of this study was to demonstrate the incidence rates and predictive factors of superior mediastinal lymph node (SMLN) metastasis in PTC (papillary thyroid carcinoma) patients. Methods A prospective observational study was performed between January 2009 and January 2011. PTC patients who had tumors with a maximal diameter greater than 1 cm and clinically negative SMLNs were included in this study. Finally, a total of 217 patients who underwent total thyroidectomy with central compartment neck dissection (CND) and elective superior mediastinal lymph node dissection (SMLND), with or without modified radical neck dissection (MRND) and revisional CND, were included. Results Occult SMLN metastasis was present in 15.7% (34/217). Cytological classifications of tumor, BRAFV600E mutation, Tumor size, T-stage, perithyroidal extension, lymphovascular invasion, multifocality, and paratracheal pN(+) were not predictive of SMLN metastasis (P > .05), while revision surgery, pretracheal pN(+), and multiple lateral pN(+) were associated with SMLN metastasis. There were no major complications related to SMLND. Transient and permanent hypoparathyroidism was observed in 69 cases (31.8%) and 8 cases (3.6%), respectively. Conclusions Despite clinically negative SMLN in preoperative evaluation, SMLN metastasis can be predicted for patients with a PTC tumor size larger than 1 cm, pretracheal LN metastasis, multiple lateral metastasis, and revisional surgery. PMID:26848952

  11. Synovial sarcoma presenting with huge mediastinal mass: a case report and review of literature

    PubMed Central

    2013-01-01

    Background Synovial sarcoma presenting in the mediastinum is exceedingly rare. Furthermore, data addressing optimal therapy is limited. Herein we present a case where an attempt to downsize the tumor to a resectable state with chemotherapy was employed. Case presentation A 32 year female presented with massive pericardial effusion and unresectable huge mediastinal mass. Computed axial tomography scan - guided biopsy with adjunctive immunostains and molecular studies confirmed a diagnosis of synovial sarcoma. Following three cycles of combination Ifosfamide and doxorubicin chemotherapy, no response was demonstrated. The patient refused further therapy and had progression of her disease 4 months following the last cycle. Conclusion Synovial sarcoma presenting with unresectable mediastinal mass carry a poor prognosis. Up to the best of our knowledge there are only four previous reports where primary chemotherapy was employed, unfortunately; none of these cases had subsequent complete surgical resection. Identification of the best treatment strategy for patients with unresectable disease is warranted. Our case can be of benefit to medical oncologists and thoracic surgeons who might be faced with this unique and exceedingly rare clinical scenario. PMID:23800262

  12. Diabetes mellitus and bone disease in cystic fibrosis.

    PubMed

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

    2009-10-01

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

  13. Inflammation and its genesis in cystic fibrosis.

    PubMed

    Nichols, David P; Chmiel, James F

    2015-10-01

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

  14. Cystic fibrosis and physiological responses to exercise.

    PubMed

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

    2014-12-01

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

  15. Cystic fibrosis lung disease in adult patients.

    PubMed

    Vender, Robert L

    2008-04-01

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

  16. Bilateral Breast Enlargement: An Unusual Presentation of Superior Vena Cava Obstruction in a Hemodialysis Patient with Fibrosing Mediastinitis

    SciTech Connect

    Goo, Dong Erk Kim, Yong Jae; Choi, Deuk Lin; Kwon, Kui Hyang; Yang, Seung Boo

    2011-02-15

    A 67-year-old woman with end-stage renal disease presented with profound edema of both breasts. The presence of a patent hemodialysis basilic transposition fistula and superior vena cava obstruction (SVC), due to fibrosing mediastinitis, was demonstrated by the use of fistulography. Endovascular treatment with a balloon and stent caused immediate resolution of the breast edema.

  17. Endovascular Treatment of Bilateral Pulmonary Artery Stenoses and Superior Vena Cava Syndrome in a Patient with Advanced Mediastinal Fibrosis

    PubMed Central

    Kuban, Joshua D.; Ramanathan, Rohit; Whigham, Cliff J.

    2016-01-01

    Vascular stenosis is a relatively uncommon and often fatal sequela of mediastinal fibrosis. There are very few reports in the medical literature of endovascular treatment for concomitant bilateral pulmonary artery stenoses and superior vena cava syndrome. We report the endovascular treatment of these conditions in a 54-year-old man, and the long-term outcome. PMID:27303243

  18. Suspected bilateral phrenic nerve damage following a mediastinal mass removal in a 17-week-old pug.

    PubMed

    Raillard, Mathieu; Murison, Pamela J; Doran, Ivan P

    2017-03-01

    The anesthetic management of a pediatric pug for removal of a mediastinal mass is described. During recovery from anesthesia, the dog's respiratory pattern was compatible with bilateral diaphragmatic paralysis. Incidence, complications, possible treatments of phrenic nerve injury, problems of long-term mechanical ventilation, and alternative case management are discussed.

  19. Enterococcus faecium Mediastinitis Complicated by Disseminated Candida parapsilosis Infection after Congenital Heart Surgery in a 4-Week-Old Baby

    PubMed Central

    Renk, Hanna; Neunhoeffer, Felix; Hölzl, Florian; Hofbeck, Michael; Kumpf, Matthias

    2015-01-01

    Background. Cardiac surgery offers multiple treatment options for children with congenital heart defects. However, infectious complications still remain a major cause of morbidity and mortality in these patients. Mediastinitis is a detrimental complication in children undergoing cardiac surgery. The risk of mediastinitis after delayed sternal closure is up to 10%. Case Presentation. We report a case of Enterococcus faecium mediastinitis in a 4-week-old female baby on extracorporeal membrane oxygenation after Norwood procedure. Although repeated antibiotic irrigation, debridement, and aggressive antibiotic treatment were started early, the pulmonary situation deteriorated. Candida parapsilosis was isolated from bronchoalveolar lavage after pulmonary hemorrhage. Disseminated C. parapsilosis infection with pulmonary involvement was treated with liposomal amphotericin B. Subsequently, inflammatory markers increased again and eventually C. parapsilosis was isolated from the central venous catheter. Conclusion. Children undergoing delayed sternal closure have a higher risk of mediastinitis. Therefore, antibiotic prophylaxis, for example, for soft tissue infection seems justified. However, long-term antibiotic treatment is a risk factor for fungal superinfection. Antifungal treatment of disseminated C. parapsilosis infection may fail in PICU patients with nonbiological material in place due to capacity of this species to form biofilms on medical devices. Immediate removal of central venous catheters and other nonbiological material is life-saving in these patients. PMID:26605096

  20. Congenital cystic eye with optic nerve.

    PubMed

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

    2015-07-15

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

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

    PubMed

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

    2012-01-01

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

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

    PubMed

    Brown, Jennifer

    2014-05-01

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

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

    PubMed

    Tümmler, B

    2016-05-01

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

  4. Lung disease in mice with cystic fibrosis.

    PubMed Central

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

    1997-01-01

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

  5. Mycobacterium abscessus and Children with Cystic Fibrosis

    PubMed Central

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

    2003-01-01

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

  6. Cystic fibrosis: a mucosal immunodeficiency syndrome

    PubMed Central

    Cohen, Taylor Sitarik; Prince, Alice

    2013-01-01

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

  7. Mediastinal tumor

    MedlinePlus

    ... contains the heart, large blood vessels, windpipe (trachea), thymus gland, esophagus, and connective tissues. The mediastinum is divided into 3 sections: Anterior (front) Middle Posterior (back) ... Cancer Browse the Encyclopedia A.D.A.M., ...

  8. Chloride and potassium channels in cystic fibrosis airway epithelia

    NASA Astrophysics Data System (ADS)

    Welsh, Michael J.; Liedtke, Carole M.

    1986-07-01

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

  9. Unique presentation of a giant mediastinal tumor as kyphosis: a case report

    PubMed Central

    2012-01-01

    Introduction Although posture distortion is a common problem in elderly patients, spinal deformity caused by a thymoma has not been previously reported. Thymomas are slowly growing tumors that predominantly cause respiratory symptoms. Case presentation We report the case of an 83-year-old woman who was admitted with a giant mediastinal mass that had caused progressive spinal distortion and weight loss to our department. The clinical and laboratory investigations that followed revealed one of the largest thymomas ever reported in the medical literature, presenting as a mass lesion placed at the left hemithorax. She underwent complete surgical excision of the tumor via a median sternotomy. Two years after the operation, she showed significant improvement in her posture, no pulmonary discomfort, and a gain of 20 kg; she remains disease free based on radiographic investigations. Conclusions In this case, a chronic asymmetric load on the spine resulted in an abnormal vertebral curvature deformity that presented as kyphosis. PMID:22475440

  10. Post Blalock-Taussig shunt mediastinal mass - a single shadow with two different destinies.

    PubMed

    Rohit, Manoj Kumar; Vadivelu, Ramalingam; Khandelwal, Niranjan; Krishna, Satheesh

    2014-01-01

    The modified Blalock-Taussig shunt is a synthetic shunt between the subclavian and pulmonary artery, used in the treatment of congenital cyanotic heart diseases with pulmonary hypoperfusion. Delayed complications include progressive failure of the shunt, serous fluid leak, and pseudoaneurysm formation. We report two different and rare mediastinal vascular complications following modified BT shunt surgery in this case report. The first one is a seroma, due to serous fluid leakage through the shunt graft, which is a relatively benign complication. The second one is a pseudoaneurysm, arising from the shunt, a frequently fatal complication. Generally, X-ray chest is used for screening in these patients. CT angiography plays a vital role in the diagnosis of both these conditions. Management in pseudoaneurysm should be aggressive, as timely intervention may be life saving, while in seroma the management is most often conservative occasionally requiring surgical intervention.

  11. On the Automated Segmentation of Epicardial and Mediastinal Cardiac Adipose Tissues Using Classification Algorithms.

    PubMed

    Rodrigues, Érick Oliveira; Cordeiro de Morais, Felipe Fernandes; Conci, Aura

    2015-01-01

    The quantification of fat depots on the surroundings of the heart is an accurate procedure for evaluating health risk factors correlated with several diseases. However, this type of evaluation is not widely employed in clinical practice due to the required human workload. This work proposes a novel technique for the automatic segmentation of cardiac fat pads. The technique is based on applying classification algorithms to the segmentation of cardiac CT images. Furthermore, we extensively evaluate the performance of several algorithms on this task and discuss which provided better predictive models. Experimental results have shown that the mean accuracy for the classification of epicardial and mediastinal fats has been 98.4% with a mean true positive rate of 96.2%. On average, the Dice similarity index, regarding the segmented patients and the ground truth, was equal to 96.8%. Therfore, our technique has achieved the most accurate results for the automatic segmentation of cardiac fats, to date.

  12. Multidrug-Resistant Tuberculous Mediastinal Lymphadenitis, with an Esophagomediastinal Fistula, Mimicking an Esophageal Submucosal Tumor.

    PubMed

    Kim, Dongwuk; Kim, Juwon; Lee, Daegeun; Chang, Ha Sung; Joh, Hyunsung; Koh, Won-Jung; Lee, Jun Haeng

    2016-11-01

    Mediastinal tuberculous lymphadenitis rarely mimics esophageal submucosal tumor, particularly in the case of multidrug-resistant tuberculosis (MDR-TB). Herein, we report the case of a 61-year-old woman who visited a local hospital complaining of odynophagia. An initial esophagogastroduodenoscopy revealed an esophageal submucosal tumor, and subsequent chest computed tomography showed subcarinal lymphadenopathy with an esophagomediastinal fistula. The patient was then referred to Samsung Medical Center, and a second esophagogastroduodenoscopy showed deep central ulceration, as well as a suspicious fistula in the esophageal submucosal tumor-like lesion. A biopsy examination of the ulcerative lesion confirmed focal inflammation only. Next, an endobronchial, ultrasound-guided lymph node biopsy was performed, and TB was confirmed. The patient initially began a course of isoniazid, rifampicin, ethambutol, and pyrazinamide. However, after a drug sensitivity test, she was diagnosed with MDR-TB, and second-line anti-TB medications were prescribed. She recovered well subsequently.

  13. Randomized Clinical Trial to Assess the Efficacy of Radiotherapy in Primary Mediastinal Large B-Lymphoma

    SciTech Connect

    Aviles, Agustin; Neri, Natividad; Fernandez, Raul; Huerta-Guzman, Judith; Nambo, Maria J.

    2012-07-15

    Purpose: We developed a controlled clinical trial to assess the efficacy and toxicity of adjuvant-involved field radiotherapy (IFRT) in patients with primary mediastinal B-cell lymphoma that achieved complete response after the patients were treated with cyclophosphamide, doxorubicin, vincristine, prednisone, and rituximab (R-CHOP-14). Methods and Materials: Between January 2001 and June 2004, 124 consecutive patients who were in complete remission after dose dense chemotherapy and rituximab administration (R-CHOP14) were randomly assigned to received IFRT (30 Gy). Sixty-three patients received IFR, and 61 patients did not (control group). Results: The study aimed to include 182 patients in each arm but was closed prematurely because in a security analysis (June 2004), progression and early relapse were more frequent in patients that did not received IFRT. Patients were followed until March 2009, at which point actuarial curves at 10 years showed that progression free-survival was 72% in patients who received IFR and 20% in the control group (p < 0.001), overall survival was 72% and 31%, respectively (p < 0.001). Acute toxicity was mild and well tolerated. Discussion: Adjuvant radiotherapy to sites of bulky disease was the only difference to have an improvement in outcome in our patients; the use of rituximab during induction did not improve complete response rates and did affect overall survival; patients who received rituximab but not IFRT had a worse prognosis. Conclusions: The use of IFRT in patients with primary mediastinal B-cell lymphoma who achieved complete response remain as the best treatment available, even in patients that received rituximab during induction.

  14. Prognostic value of right upper mediastinal lymphadenectomy in Sweet procedure for esophageal cancer

    PubMed Central

    Wang, Zhi-Qiang; Deng, Han-Yu; Hu, Yang; Yuan, Yong; Wang, Wen-Ping; Wang, Yun-Cang

    2016-01-01

    Background The prognostic value of the right upper mediastinal lymph node dissection (RUMLND) for patients with middle or lower thoracic esophageal squamous cell carcinoma (ESCC-MLT) is still not well established yet. Our objective is to evaluate the prognostic role of the Sweet procedure plus right upper mediastinal lymph node dissection (MS) by comparing with the Sweet procedure with standard lymph node dissection (SS) in terms of long-term survival. Methods Totally 1,477 ESCC-MLT patients underwent radical intent surgery (186 with MS, 1,291 with SS) at our department between January 2007 and September 2013. After propensity score matching (PSM), 186 patients from each group were matched and analyzed. The 5-year survival rates in two groups were compared by detailed stratifications in terms of clinical characteristics. Results As for the prognostic role of RUMLND, patients treated with MS tended to obtain higher 5-year survival rate than patients treated with SS in univariate analysis (48.1% vs. 37.4%). Moreover, in multivariate analysis, MS yielded significant higher 5-year survival rate compared with SS (P=0.041). In addition, subgroup analyses of the survival between the MS and SS patients by detailed stratifications demonstrated the survival superiority in the MS group with age <60 years old, TNM stage III, number of lymph node dissection (LND) ≥15, as well as no using of postoperative adjuvant treatment. Conclusions The RUMLND in Sweet procedure is an independent prognostic factor for ESCC-MLT patients, especially for those with thoracic middle segment-located tumor, stage III or younger. PMID:28149557

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

    PubMed Central

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

    2013-01-01

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

  16. Cystic adventitial disease of popliteal artery with significant stenosis

    PubMed Central

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

    2013-01-01

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

  17. Thymoma and Synchronous Primary Mediastinal Seminomas with Florid Follicular Lymphoid Hyperplasia in the Anterior Mediastinum: A Case Report and Review of the Literature

    PubMed Central

    Lee, Hyang-im; Jang, In-seok; Jeon, Kyung Nyeo; Ko, Gyung Hyuck; Lee, Jong Sil; Kim, Dong Chul; Song, Dae Hyun; Lee, Jeong-Hee

    2017-01-01

    Thymoma is the most common neoplasm of the anterior mediastinum and has malignant potential. Germ cell tumors (GCTs) found in the anterior mediastinum are usually benign, and malignant GCTs, such as seminomas, are rare. Histologically, mediastinal seminoma is indistinguishable from testicular seminoma except for site-associated morphological features such as lymphoid follicular hyperplasia. Therefore, excluding metastasis is very important. Recently, we treated a young adult patient with multiple thymic masses that occurred simultaneously. The patient underwent a thymectomy for the removal of the mediastinal masses, one of which was diagnosed as type B2 invasive thymoma, and two of which were diagnosed as primary mediastinal seminomas with massive follicular hyperplasia. The patient received adjuvant chemotherapy after surgical resection. To our knowledge, this is the first description of a thymoma and a mediastinal seminoma occurring simultaneously in the thymus. We present this case along with a literature review. PMID:28147469

  18. Cystic fibrosis therapeutics: the road ahead.

    PubMed

    Hoffman, Lucas R; Ramsey, Bonnie W

    2013-01-01

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

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

    PubMed

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

    2014-10-01

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

  20. [New therapeutic developments in cystic fibrosis].

    PubMed

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

    2016-12-01

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

  1. Vaccine strategies against cystic fibrosis pathogens

    PubMed Central

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

    2016-01-01

    ABSTRACT A great number of cystic fibrosis (CF) pathogens such as Pseudomonas aeruginosa, the Burkholderia cepacia and the Mycobacterium abscessus complex raised difficult therapeutic problems due to their intrinsic multi-resistance to numerous antibiotics. Vaccine strategies represent one of the key weapons against these multi-resistant bacteria in a number of clinical settings like CF. Different strategies are considered in order to develop such vaccines, linked either to priming the host response, or by exploiting genomic data derived from the bacterium. Interestingly, virulence factors synthesized by various pathogens might serve as targets for vaccine development and have been, for example, evaluated in the context of CF. PMID:26618824

  2. Genetic therapies for cystic fibrosis lung disease.

    PubMed

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

    2011-04-15

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

  3. Influenza immunization in children with cystic fibrosis.

    PubMed

    Adlard, P; Bryett, K

    1987-01-01

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

  4. Vitamin D Deficiency in Cystic Fibrosis

    PubMed Central

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

    2010-01-01

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

  5. Cystic fibrosis-associated liver disease.

    PubMed

    Herrmann, Ulrike; Dockter, Gerd; Lammert, Frank

    2010-10-01

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

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

    PubMed

    Olveira, Gabriel; Olveira, Casilda

    2008-05-01

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

  7. Eating disorders in patients with cystic fibrosis.

    PubMed

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

    2000-06-01

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

  8. The Changing Microbial Epidemiology in Cystic Fibrosis

    PubMed Central

    LiPuma, John J.

    2010-01-01

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

  9. Differential diagnosis between AML infiltration, lymphoma and tuberculosis in a patient presenting with fever and mediastinal lymphadenopathy: A case report

    PubMed Central

    ZHAO, NA; YANG, JUN-JIE; ZHANG, GUANG-SEN

    2014-01-01

    The diagnosis of tuberculosis in immunocompromised hosts is often difficult as the hosts have atypical tuberculosis symptoms. The current study presents a case of scrofula and pulmonary tuberculosis with acute myelocytic leukemia (AML). As the disease became aggravated, the patient presented with fever, hemophagocytosis in the bone marrow, lymphadenopathy of the supraclavicular fossa, and mediastinal and nodular shadow in the chest by computed tomography. The symptoms presented successively or were coexistent, which made differentiation between tuberculosis, lymphoma, AML infiltration or other infections challenging. The diagnosis of tuberculosis was based on clinical and radiographic observations, morphological observation of the biopsies and the positive effect of antituberculosis drugs, while Ziehl-Neelsen stainings for acid fast bacilli were negative. The patient was treated with antituberculosis drugs, while receiving chemotherapy for AML. It is important to distinguish tuberculosis in adults with AML from other causes of fever, mediastinal masses in radiographic observations and hemophagocytosis in the bone marrow. PMID:24527075

  10. Anterior mediastinal mass in a young marijuana smoker: a rare case of small-cell lung cancer.

    PubMed

    Kothadia, Jiten P; Chhabra, Saurabh; Marcus, Alan; May, Michael; Saraiya, Biren; Jabbour, Salma K

    2012-01-01

    The use of cannabis is embedded within many societies, mostly used by the young and widely perceived to be safe. Increasing concern regarding the potential for cannabis to cause mental health effects has dominated cannabis research, and the potential adverse respiratory effects have received relatively little attention. We report a rare case of 22-year-old man who presented with bilateral neck lymphadenopathy, fatigue, and sore throat without significant medical or family history. The patient had smoked one marijuana joint three times a week for three years but no cigarettes. Chest CT demonstrated a large anterior mediastinal mass compressing the superior vena cava and mediastinal lymphadenopathy. A final diagnosis of small-cell lung cancer was reached. Although rare, a small-cell lung cancer in this patient should alert the physician that cannabis smoking may be a risk factor for lung cancer.

  11. Occult Mediastinal Great Vessel Trauma: The Value of Aortography Performed During Angiographic Screening for Blunt Cervical Vascular Trauma

    SciTech Connect

    Ray, Charles E. Bauer, Jason R.; Cothren, C. Clay; Turner, James H.; Moore, Ernest E.

    2005-05-15

    Purpose. To determine the value of aortography in the assessment of occult aortic and great vessel injuries when routinely performed during screening angiography for blunt cerebrovascular injury (BCVI). Methods. One hundred and one consecutive patients who received both aortography and screening four-vessel angiography over 4 years were identified retrospectively. Angiograms for these patients were evaluated, and the incidence of occult mediastinal vascular injury was determined. Results. Of the 101 patients, 6 (6%) had angiographically documented traumatic aortic injuries. Of these 6 patients, one injury (17%) was unsuspected prior to angiography. Four of the 6 (67%) also had BCVI. One additional patient also had an injury to a branch of the subclavian artery. Conclusion. Routine aortography during screening angiography for BCVI is not warranted due to the low incidence (1%) of occult mediastinal arterial injury. However, in the setting of a BCVI screening study and no CT scan of the chest, aortography may be advantageous.

  12. Initial experience with real-time elastography using an ultrasound bronchoscope for the evaluation of mediastinal lymph nodes.

    PubMed

    Andreo García, Felipe; Centeno Clemente, Carmen Ángela; Sanz Santos, José; Barturen Barroso, Ángel; Hernández Gallego, Alba; Ruiz Manzano, Juan

    2015-02-01

    Real-time elastography performed during endoscopic ultrasonography is a relatively new method for characterizing tissue stiffness, and has been used successfully as a predictor of malignancy in mediastinal lymph nodes. This case report describes our practical experience with this technique using an ultrasound bronchoscope to examine mediastinal lymph nodes. We present a case of sectorial endobronchial ultrasound and the first published case of endoscopic ultrasound elastography using ultrasound bronchoscope in two patients with non-small cell lung carcinoma. Qualitative tissue color pattern was obtained in both cases and correlated with pathological evaluation. The initial feasibility results are promising and suggest that ultrasound bronchoscopy techniques, such as guided nodal staging, merit additional studies. It may be important to categorize the risk of malignancy to facilitate sampling decisions.

  13. Imaging the Abdominal Manifestations of Cystic Fibrosis

    PubMed Central

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

    2017-01-01

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

  14. Targeting ion channels in cystic fibrosis.

    PubMed

    Mall, Marcus A; Galietta, Luis J V

    2015-09-01

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

  15. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

    PubMed Central

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

    2015-01-01

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

  16. Medullary cystic disease: a family study.

    PubMed

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

    1998-03-01

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

  17. Cystic fibrosis chronic rhinosinusitis: A comprehensive review

    PubMed Central

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

    2013-01-01

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

  18. [Vitamin E deficiency in cystic fibrosis].

    PubMed

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

    1987-12-01

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

  19. Comparative biology of cystic fibrosis animal models.

    PubMed

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

    2011-01-01

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

  20. Lessons learned from metabolomics in cystic fibrosis.

    PubMed

    Muhlebach, Marianne S; Sha, Wei

    2015-12-01

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

  1. Cystic echinococcosis in Greece. Past and present.

    PubMed

    Sotiraki, S; Chaligiannis, I

    2010-09-01

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

  2. CFTR protein repair therapy in cystic fibrosis.

    PubMed

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

    2014-04-01

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

  3. Stereotaxic intracavitary irradiation for cystic craniopharyngiomas

    SciTech Connect

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

    1988-02-01

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

  4. IgG4-related disease: description of a case with pulmonary lesions, mediastinal lymphadenopathies and rapidly progressive renal failure.

    PubMed

    Fernández Lorente, Loreto; Álvarez, Dolores López; López, Virginia García; Kollros, Vesna Abujder; Ariza, Aurelio; Gálvez, Alejandro; Bonet, Josep

    2015-01-01

    This is a case report of a 73-year-old man with new-onset acute renal failure while being investigated for pulmonary infiltrates and mediastinal lymphadenopathies. Urine tests showed tubular range proteinuria with no microhaematuria. Immunology tests showed elevated serum IgG and hypocomplementaemia (classical pathway activation). Renal biopsy and clinical-pathological correlation were crucial in this case, reinforcing their important role in the final diagnosis of acute kidney injury.

  5. Automatic identification of IASLC-defined mediastinal lymph node stations on CT scans using multi-atlas organ segmentation

    NASA Astrophysics Data System (ADS)

    Hoffman, Joanne; Liu, Jiamin; Turkbey, Evrim; Kim, Lauren; Summers, Ronald M.

    2015-03-01

    Station-labeling of mediastinal lymph nodes is typically performed to identify the location of enlarged nodes for cancer staging. Stations are usually assigned in clinical radiology practice manually by qualitative visual assessment on CT scans, which is time consuming and highly variable. In this paper, we developed a method that automatically recognizes the lymph node stations in thoracic CT scans based on the anatomical organs in the mediastinum. First, the trachea, lungs, and spines are automatically segmented to locate the mediastinum region. Then, eight more anatomical organs are simultaneously identified by multi-atlas segmentation. Finally, with the segmentation of those anatomical organs, we convert the text definitions of the International Association for the Study of Lung Cancer (IASLC) lymph node map into patient-specific color-coded CT image maps. Thus, a lymph node station is automatically assigned to each lymph node. We applied this system to CT scans of 86 patients with 336 mediastinal lymph nodes measuring equal or greater than 10 mm. 84.8% of mediastinal lymph nodes were correctly mapped to their stations.

  6. Mediastinal hydatid cyst rupturing into the pleural cavity associated with pneumothorax: case report and review of the literature.

    PubMed

    Shameem, Mohd; Bhargava, Rakesh; Ahmad, Zuber; Fatima, Nazish; Nazir Shah, Naveed

    2006-01-01

    Hydatid disease remains a serious health problem in Mediterranean countries. Living in a rural area is an important risk factor for the disease. Hydatid cysts are usually located in the liver, lungs and brain. Mediastinal hydatid disease is very rare and has been noted only anecdotally in the literature. The present article reports a case of a mediastinal hydatid cyst rupturing into the pleural cavity, which was associated with pneumothorax of the same side. The patient's previous chest x-rays (posteroanterior and left lateral views) showed a well-defined mediastinal mass on the left side, and contrast-enhanced computed tomography of the thorax (taken a few days after the chest x-ray) showed multiple round-to-oval soft tissue opacities with partial collapse of the left lung. An indirect hemagglutination test for echinococcus was positive. Even after two weeks of intercostal tube drainage, the patient's condition did not improve. During thoracotomy, multiple daughter cysts were found in the pleural cavity, and the diagnosis of a hydatid cyst was confirmed after histopathological examination.

  7. Concurrent Nontuberculous Mycobacteria Infection and High-Grade Anterior Mediastinal Extraskeletal Osteosarcoma (ESOS): Is There a Connection?

    PubMed Central

    Faz, Gabriel T.; Eltorky, Mahmoud; Karnath, Bernard

    2016-01-01

    Patient: Male, 59 Final Diagnosis: High-grade anterior mediastinal extraskeletal osteosarcoma Symptoms: Dyspnea • hemoptysis Medication: — Clinical Procedure: Biopsy Specialty: Oncology Objective: Rare disease Background: Extraskeletal osteosarcomas (ESOS) of the mediastinum are extremely rare and may present with concurrent nontuberculous mycobacteria infection. Case Report: We present the second documented case of high-grade anterior mediastinal extraskeletal osteosarcoma in a 59-year-old man with a history of treated, latent tuberculosis (TB). Sputum samples grew Mycoplasma avium complex and Mycobacterium fortuitum. Imaging showed a right-sided 7.6 cm mass with compression of the main bronchus. Subsequent biopsy with vimentin staining established the diagnosis of ESOS. Due to the patient’s rapidly declining performance status, he was not deemed a candidate for surgery or chemotherapy. He subsequently expired within one month of presentation. Conclusions: We present a unique case of high-grade anterior mediastinum ESOS and a review of the literature regarding all documented cases of ESOS to date. We suggest there is a possible link between mediastinal masses and nontuberculous mycobacteria infection. PMID:27539718

  8. Systemic corticosteroid and isotretinoin treatment in cystic acne.

    PubMed

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

    1993-12-01

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

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

    PubMed

    Tolstoi, L G; Smith, C L

    1999-11-01

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

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

    PubMed

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

    2008-01-01

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

  11. Does videomediastinoscopy with frozen sections improve mediastinal staging during video-assisted thoracic surgery pulmonary resections?

    PubMed Central

    Gonfiotti, Alessandro; Viggiano, Domenico; Borgianni, Sara; Borrelli, Roberto; Tancredi, Giorgia; Jaus, Massimo O.; Politi, Leonardo; Comin, Camilla E.; Voltolini, Luca

    2016-01-01

    Background To assess if video-mediastinoscopy (VM) with frozen sections (FS) combined with a video-assisted thoracic surgery major pulmonary resection (VMPRS) is able to improve VATS mediastinal intraoperative staging. Methods From June 2012 to March 2015 a total of 146 patients underwent VMPRS lymphadenectomy. NCCN guidelines were followed for pre-operative staging, including VM with FS in 27 patients (19%). Procedural time, dissected nodal stations, complications related to VM and VATS lymphadenectomy and definitive histology, were evaluated. Results Operative time for VATS resection with VM (group 1) and VATS pulmonary resection alone (group 2) was 198±64 vs. 167±43 min (P=0.003). Mean/median numbers of dissected nodal stations were 4.93±1.1/5 (range, 4–8) in group 1 and 3.25±0.5/5 (range, 3–8) in group 2 (P<0.001). Group 1 vs. group 2 right-sided lymphadenectomy (n=86) was performed at station 2R/4R in 18 (90%) and 46 (69.7%); at station 3a/3p in 14 (51.8%) and 22 (31%); at station 7 in 18 (90%) and 44 (66.7%); at station 8/9 in 11 (55%) and 24 (36.4%) respectively. On the left side (n=60) group 1 vs. group 2 lymphadenectomy resulted at station 4 in 6 (85.7%) and 38 (71.7%); at station 5/6 in 6 (85.7%) and 26 (49%); at station 7 in 6 (85.7%) and 33 (62.3%), and at station 8/9 in 1 (14.3%) and 18 (34%). There were no early deaths and recurrent laryngeal nerve palsy occurred in 1 (0.8%) in group 2. Pathological upstaging (pN1; pN2) was found in 5 patients (17%) in group 1, and 13 (11%) in group 2 (P=0.23). About FS (n=29), formal paraffin histology resulted in 0% of both, false negative and false positive results. Conclusions Based on our experience, the combination “VM with FS followed by VMPRS in sequence”, seems to be effective and offers an alternative approach to improve intraoperative mediastinal staging. PMID:28149542

  12. SU-E-T-267: Proton Pencil Beam Scanning for Mediastinal Lymphoma: 4-Dimensional Feasibility Study

    SciTech Connect

    Zeng, C; Plastaras, J; Tochner, Z; Hill-Kayser, C; Hahn, S; Both, S

    2014-06-01

    Purpose: To assess the feasibility of proton pencil beam scanning (PBS) for the treatment of mediastinal lymphoma. Methods: A group of 6 patients were planned using an anterior field with PBS. Spots with ∼5 mm σ were used for all patients, while large spots (∼10 mm σ) were employed for patients with motion perpendicular to the beam (≥5 mm). We considered volumetric repainting such that, in each fraction, the same field would be delivered twice. Four-dimensional dose was calculated on initial and verification 4-dimensional computed tomography (4D-CT) scans (2—3) based on respiratory trace and beam delivery sequence. This was implemented by binning the spots into separate plans on each 4D-CT phase respectively. Four starting phases were sampled for each painting and 4 energy switching times (0.5 s, 1 s, 3 s, and 5 s) were tested, resulting in 2560 dose distributions for the cohort. Plan robustness was measured for target and critical structures in terms of the percentage difference between delivered dose and planned dose. Results: For 5 of the 6 patients, the ITV (internal target volume) D98% was degraded by <3% (standard deviations ∼ 0.1%) when averaged over the whole course (up to 5% per fraction). Deviations of mean lung dose, heart maximum dose, and cord maximum dose were within 5% of prescribed dose. For one patient with motion perpendicular to the beam (up to 5 mm), the degradation of ITV D98% was 9% over the whole course (12% per fraction), which was mitigated to 1% (3% per fraction) by employing large spots and repainting. No significant difference in coverage was observed for different energy switching times. Conclusion: This feasibility study demonstrates that, for mediastinal lymphoma, the PBS plan robustness can be maintained during delivery when target motion is measured and volumetric repainting and/or large spots are employed. This work was supported by Ion Beam Application.

  13. Differential Motion Between Mediastinal Lymph Nodes and Primary Tumor in Radically Irradiated Lung Cancer Patients

    SciTech Connect

    Schaake, Eva E.; Rossi, Maddalena M.G.; Buikhuisen, Wieneke A.; Burgers, Jacobus A.; Smit, Adrianus A.J.; Belderbos, José S.A.; Sonke, Jan-Jakob

    2014-11-15

    Purpose/Objective: In patients with locally advanced lung cancer, planning target volume margins for mediastinal lymph nodes and tumor after a correction protocol based on bony anatomy registration typically range from 1 to 1.5 cm. Detailed information about lymph node motion variability and differential motion with the primary tumor, however, is lacking from large series. In this study, lymph node and tumor position variability were analyzed in detail and correlated to the main carina to evaluate possible margin reduction. Methods and Materials: Small gold fiducial markers (0.35 × 5 mm) were placed in the mediastinal lymph nodes of 51 patients with non-small cell lung cancer during routine diagnostic esophageal or bronchial endoscopic ultrasonography. Four-dimensional (4D) planning computed tomographic (CT) and daily 4D cone beam (CB) CT scans were acquired before and during radical radiation therapy (66 Gy in 24 fractions). Each CBCT was registered in 3-dimensions (bony anatomy) and 4D (tumor, marker, and carina) to the planning CT scan. Subsequently, systematic and random residual misalignments of the time-averaged lymph node and tumor position relative to the bony anatomy and carina were determined. Additionally, tumor and lymph node respiratory amplitude variability was quantified. Finally, required margins were quantified by use of a recipe for dual targets. Results: Relative to the bony anatomy, systematic and random errors ranged from 0.16 to 0.32 cm for the markers and from 0.15 to 0.33 cm for the tumor, but despite similar ranges there was limited correlation (0.17-0.71) owing to differential motion. A large variability in lymph node amplitude between patients was observed, with an average motion of 0.56 cm in the cranial-caudal direction. Margins could be reduced by 10% (left-right), 27% (cranial-caudal), and 10% (anteroposterior) for the lymph nodes and −2%, 15%, and 7% for the tumor if an online carina registration protocol replaced a

  14. Cardiosphere conditioned media influence the plasticity of human mediastinal adipose tissue-derived mesenchymal stem cells.

    PubMed

    Siciliano, Camilla; Chimenti, Isotta; Ibrahim, Mohsen; Napoletano, Chiara; Mangino, Giorgio; Scafetta, Gaia; Zoccai, Giuseppe Biondi; Rendina, Erino Angelo; Calogero, Antonella; Frati, Giacomo; De Falco, Elena

    2015-01-01

    Nowadays, cardiac regenerative medicine is facing many limitations because of the complexity to find the most suitable stem cell source and to understand the regenerative mechanisms involved. Mesenchymal stem cells (MSCs) have shown great regenerative potential due to their intrinsic properties and ability to restore cardiac functionality, directly by transdifferentiation and indirectly by paracrine effects. Yet, how MSCs could respond to definite cardiac-committing microenvironments, such as that created by resident cardiac progenitor cells in the form of cardiospheres (CSs), has never been addressed. Recently, a putative MSC pool has been described in the mediastinal fat (hmADMSCs), but both its biology and function remain hitherto unexplored. Accordingly, we investigated the potential of hmADMSCs to be committed toward a cardiovascular lineage after preconditioning with CS-conditioned media (CCM). Results indicated that CCM affects cell proliferation. Gene expression levels of multiple cardiovascular and stemness markers (MHC, KDR, Nkx2.5, Thy-1, c-kit, SMA) are significantly modulated, and the percentage of hmADMSCs preconditioned with CCM and positive for Nkx2.5, MHC, and KDR is significantly higher relative to FBS and explant-derived cell conditioned media (EDCM, the unselected stage before CS formation). Growth factor-specific and survival signaling pathways (i.e., Erk1/2, Akt, p38, mTOR, p53) present in CCM are all equally regulated. Nonetheless, earlier BAD phosphorylation (Ser112) occurs associated with the CS microenvironment (and to a lesser extent to EDCM), whereas faster phosphorylation of PRAS40 in FBS, and of Akt (Ser473) in EDCM and 5-azacytidine occurs compared to CCM. For the first time, we demonstrated that the MSC pool held in the mediastinal fat is adequately plastic to partially differentiate in vitro toward a cardiac-like lineage. Besides, we have provided novel evidence of the potent inductive niche-like microenvironment that the CS

  15. Air Trapping and Airflow Obstruction in Newborn Cystic Fibrosis Piglets

    PubMed Central

    Adam, Ryan J.; Michalski, Andrew S.; Bauer, Christian; Abou Alaiwa, Mahmoud H.; Gross, Thomas J.; Awadalla, Maged S.; Bouzek, Drake C.; Gansemer, Nicholas D.; Taft, Peter J.; Hoegger, Mark J.; Diwakar, Amit; Ochs, Matthias; Reinhardt, Joseph M.; Hoffman, Eric A.; Beichel, Reinhard R.; Meyerholz, David K.

    2013-01-01

    Rationale: Air trapping and airflow obstruction are being increasingly identified in infants with cystic fibrosis. These findings are commonly attributed to airway infection, inflammation, and mucus buildup. Objectives: To learn if air trapping and airflow obstruction are present before the onset of airway infection and inflammation in cystic fibrosis. Methods: On the day they are born, piglets with cystic fibrosis lack airway infection and inflammation. Therefore, we used newborn wild-type piglets and piglets with cystic fibrosis to assess air trapping, airway size, and lung volume with inspiratory and expiratory X-ray computed tomography scans. Micro–computed tomography scanning was used to assess more distal airway sizes. Airway resistance was determined with a mechanical ventilator. Mean linear intercept and alveolar surface area were determined using stereologic methods. Measurements and Main Results: On the day they were born, piglets with cystic fibrosis exhibited air trapping more frequently than wild-type piglets (75% vs. 12.5%, respectively). Moreover, newborn piglets with cystic fibrosis had increased airway resistance that was accompanied by luminal size reduction in the trachea, mainstem bronchi, and proximal airways. In contrast, mean linear intercept length, alveolar surface area, and lung volume were similar between both genotypes. Conclusions: The presence of air trapping, airflow obstruction, and airway size reduction in newborn piglets with cystic fibrosis before the onset of airway infection, inflammation, and mucus accumulation indicates that cystic fibrosis impacts airway development. Our findings suggest that early airflow obstruction and air trapping in infants with cystic fibrosis might, in part, be caused by congenital airway abnormalities. PMID:24168209

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-11-01

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

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

    PubMed

    Greer, Jonathan B; Ferrone, Cristina R

    2016-04-01

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

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

    PubMed

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

    2011-07-01

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

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

    PubMed

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

    2016-08-01

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

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

    SciTech Connect

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

    1984-06-01

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

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

    PubMed

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

    2009-11-01

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

  3. Flow in Idealised Compliant Human Cystic Duct Models

    NASA Astrophysics Data System (ADS)

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

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

  4. Evaluation of anterior mediastinal solid tumors by CT perfusion: a preliminary study

    PubMed Central

    Bakan, Selim; Kandemirli, Sedat Giray; Dikici, Atilla Süleyman; Erşen, Ezel; Yıldırım, Onur; Samancı, Cesur; Batur, Şebnem; Olgun, Deniz Çebi; Kantarcı, Fatih; Akman, Canan

    2017-01-01

    PURPOSE We aimed to assess the role of computed tomography (CT) perfusion in differentiation of thymoma from thymic hyperplasia, lymphoma, thymic carcinoma, and lung cancer invading anterior mediastinum. METHODS In this study, 25 patients with an anterior mediastinal lesion underwent CT perfusion imaging from January 2015 to February 2016. Diagnoses included thymoma (n=7), thymic hyperplasia (n=8), lymphoma (n=4), thymic carcinoma (n=3), and invasive lung cancer (n=3). Lymphoma, thymic carcinoma, and lung cancer were grouped as malignant tumors for statistical analysis. Values for blood flow, blood volume, and permeability surface were measured in CT perfusion. RESULTS Blood flow and blood volume values were higher in thymoma in comparison to thymic hyperplasia; however, the difference was not statistically significant. Blood volume values were significantly higher in thymoma (mean, 11.4 mL/100 mL; range, 5.2–20.2 mL/100 mL) compared with lymphoma (mean, 5.3 mL/100 mL; range, 2.5–7.2 mL/100 mL) (P = 0.023). Blood flow and blood volume values were significantly higher in thymoma compared with non-thymoma malignant tumors (P = 0.025). CONCLUSION CT perfusion is helpful in differentiating thymoma from non-thymoma malignancies including lymphoma, thymic carcinoma, and invasive lung cancer involving the anterior mediastinum. PMID:27924778

  5. Racial patterns of patients with primary mediastinal large B-cell lymphoma

    PubMed Central

    Liu, Pan-Pan; Wang, Ke-Feng; Xia, Yi; Bi, Xi-Wen; Sun, Peng; Wang, Yu; Li, Zhi-Ming; Jiang, Wen-Qi

    2016-01-01

    Abstract The aim of this study is to investigate the incidence and clinical outcomes of primary mediastinal large B-cell lymphoma (PMBL). Here we did a retrospective analysis using the surveillance, epidemiology, and end results (SEER) database to analyze the incidences and survival of patients with PMBL diagnosed during 2001–2012 among major ethnic groups. During 2001–2012, a total of 426 PMBL patients were identified, including 336 whites, 46 blacks, and 44 others. The incidence rates of female to male ratios in white, black, and other were 1.4938, 1.1202, and 1.7303 respectively, suggesting that the female-prominent disease occurrence was seen only in whites and others, but not in black population. Compared to white, the other had a worse 5-year overall survival (OS); however, factors including age, race, socioeconomic status, and stage associated with OS showed no significant difference among ethnic groups; thus, biology factors should be explored to explain the racial difference in OS. In conclusion, our findings revealed diversities in demographic features and prognosis among different racial groups. PMID:27399089

  6. Current trends in the treatment of primary mediastinal large B-cell lymphoma – an overview

    PubMed Central

    2015-01-01

    Primary mediastinal large B-cell lymphoma has been recognised as a distinct entity with unique clinical, pathologic, and genetic features. According to WHO 2008 classification it is marked as a variant of diffuse large B-cell lymphoma but shares characteristics with classic Hodgkin lymphoma. Genetic analysis has shown that amplification of the 9p24.1 region is the disease's specific structural alteration. Aggressive behaviour and a tendency to invade surrounding tissues of the thoracic cavity, often causing superior vena cava syndrome, or pleural or pericardial effusions, are the clinical hallmarks of this disease. For a long period of time it has been considered as a disease with poor prognosis, which responds poorly to the conventional treatment created for diffuse large B-cell lymphoma. An elective treatment has not yet been established, but recently the situation has became much more favourable. After the introduction of rituximab the cure rates have risen to over 80%, and the most recent results have demonstrated a new insight with dose-adjusted intensified continuous treatments, in which the cure rates have exceeded 90%. Current trends have led to the introduction of dose-adjusted intensified protocols becoming a standard of care, whereas the use of radiotherapy remains controversial because of the questionable predictive value of post-treatment PET/CT validity. The relapse rate is very low after two years of sustained complete remission. If the disease relapses or is resistant the outcome is very poor regardless of the applied treatment modality. PMID:26843837

  7. Usefulness of routine epicardial pacing wire culture for early prediction of poststernotomy mediastinitis.

    PubMed

    Mekontso-Dessap, Armand; Honoré, Stéphanie; Kirsch, Matthias; Houël, Rémi; Loisance, Daniel; Brun-Buisson, Christian

    2004-11-01

    Poststernotomy mediastinitis (PSM) is one of the most serious complications of cardiac surgery, and its associated morbidity and mortality demand early recognition for emergency therapy. In this study, we investigated the usefulness of epicardial pacing wire (EPW) cultures for the prediction of PSM. Among 2,200 patients who underwent a cardiac surgical procedure at our hospital between 1 January 1999 and 31 December 2001, 82 (3.7%) had PSM; Staphylococcus aureus was the organism (45.1%) most frequently isolated at the time of surgical debridement. EPWs from 1,607 (73.0%) patients, 73 (4.5%) of whom developed PSM, were cultured. EPW cultures from 466 (29.0%) were positive, most often (74.9%) for coagulase-negative Staphylococci. EPW cultures were truly positive in 26 cases, truly negative in 1,106 cases, falsely positive in 428 cases, and falsely negative in 47 cases (with sterile cultures in 35 cases and a culture positive for an organism different from that isolated at the time of debridement in 12 cases). EPW culture had a positive predictive value of only 5.7% and a high negative predictive value (95.9%) for the diagnosis of PSM, with an accuracy of 70.4%. However, the likelihood ratio of positive (1.27) and negative (0.89) tests indicated only small changes in pretest-to-posttest probability. Therefore, a strategy of routine culture of EPWs to predict PSM seems questionable.

  8. Gene status and clinicopathologic characteristics of lung adenocarcinomas with mediastinal lymph node metastasis

    PubMed Central

    Zhang, Shumeng; Yan, Bing; Zheng, Jing; Zhao, Jing; Zhou, Jianying

    2016-01-01

    Lung cancer with mediastinal lymph node metastasis is more likely to develop recurrence and metastasis after complete resection and targeted therapy is a promising treatment strategy. We performed amplification refractory mutation system (ARMS) fluorescence quantitative PCR to detect the gene status of EGFR, ALK, ROS1 and RET in resected samples from 280 patients who were confirmed to have primary lung adenocarcinomas with N1-N2 lymph node metastasis. Of the 280 patients enrolled, the frequency of EGFR mutations, ALK fusions, ROS1 fusions, RET fusions and no mutations was 42.9%, 10.7%, 1.8%, 3.6% and 42.9%, respectively. Five patients exhibited the coexistence of the EGFR and ALK alterations. ALK, ROS1 and RET fusions were mutually exclusive. The frequency of EGFR mutation was significantly lower among patients with poor differentiation, while the rates of ALK and ROS1 fusions were the opposite. RET fusions also tended to be more prevalent in poorly differentiated patients. EGFR and ALK double positive tumors were characterized by significantly smaller size compared with those had single gene alteration. Our study comprehensively analyzed the distinct and common clinicopathologic characteristics according to genotypes of the cohort, which should help in categorizing patients for efficient screening. PMID:27563816

  9. Video assisted thoracoscopic excision of mediastinal ectopic parathyroid adenomas: a UK regional experience

    PubMed Central

    Khan, Ali Zamir; Rew, David; Lagattolla, Nicholas; Singh, Neeta

    2015-01-01

    Background To report the first series of video-assisted thoracoscopic surgery (VATS) resection of mediastinal ectopic parathyroid adenomas (MEPAs) in the UK. Methods A case series of seven cases undergoing VATS between 2004 and 2009 to treat single gland hyperparathyroidism. Methylene blue (MB) was used in 5/7 cases immediately before exploration to identify the adenomas. Carbon dioxide (CO2) up to pressures of 10 mmHg was used safely to deflate the lung in two cases. Results There were five women and two men with a mean age of 53 years (range, 27-72 years). Histopathology confirmed successful resection of the parathyroid adenoma in 6/7 cases. There was one conversion to open thoracotomy due to bleeding from the azygos vein resulting from excessive traction. Despite marked MB uptake, this patient proved to have tuberculoid adenopathy and no parathyroid tissue was identified. Postoperative plasma calcium returned to normal in 6/7 patients and parathyroid hormone (PTH) level in 6/7 patients. The median hospital stay was 2 days and there was no mortality in this series. Conclusions MEPAs can be safely resected using VATS with minimal surgical morbidity, short drainage time and short hospital stay. CO2 insufflation and the intraoperative use of MB are safe and help to accurately localise the ectopic adenoma. VATS should be considered as the first-line approach for resection of MEPAs. PMID:26693148

  10. Diagnosis and treatment of cystic lung disease

    PubMed Central

    Park, Sanghoon; Lee, Eun Joo

    2017-01-01

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

  11. Poly Cystic Ovarian Syndrome: An Updated Overview.

    PubMed

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

    2016-01-01

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

  12. Infantile Cystic Hygroma: An Unusual Perioperative Course

    PubMed Central

    Saini, Suman; Dayal, Madhu; Gupta, Amita

    2017-01-01

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

  13. Nutrition and growth in cystic fibrosis.

    PubMed

    Hankard, Régis; Munck, Anne; Navarro, Jean

    2002-01-01

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

  14. Control programme for cystic echinococcosis in Uruguay.

    PubMed

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

    2016-05-24

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

  15. Dosimetry for radiocolloid therapy of cystic craniopharyngiomas.

    PubMed

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

    2003-09-01

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

  16. High dose Nutrizym 22 in cystic fibrosis.

    PubMed

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

    1993-09-01

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

  17. Poly Cystic Ovarian Syndrome: An Updated Overview

    PubMed Central

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

    2016-01-01

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

  18. Genetic therapies for cystic fibrosis lung disease

    PubMed Central

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

    2011-01-01

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

  19. Scoliosis in cystic fibrosis - an appraisal

    SciTech Connect

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

    1982-03-01

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

  20. Control programme for cystic echinococcosis in Uruguay

    PubMed Central

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

    2016-01-01

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

  1. Other mucoactive agents for cystic fibrosis.

    PubMed

    Bye, Peter T P; Elkins, Mark R

    2007-03-01

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

  2. Global impact of bronchiectasis and cystic fibrosis

    PubMed Central

    Redondo, Margarida; Keyt, Holly; Dhar, Raja

    2016-01-01

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

  3. Benign Cystic Peritoneal Mesothelioma Revealed by Small Bowel Obstruction

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed

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

    2010-01-01

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

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

    PubMed

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

    2010-10-01

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

  7. Cystic fibrosis in adults. From researcher to practitioner.

    PubMed Central

    Marelich, G P; Cross, C E

    1996-01-01

    The Cystic Fibrosis Foundation currently tracks about 20,000 Americans with cystic fibrosis, an autosomal recessive genetic disease that leads to multisystem complications. With the institution of better therapeutic regimens over the past 2 decades, more patients with this disease are surviving to adulthood. Within the past decade, both clinical and basic science research in the field of cystic fibrosis has progressed at a rapid rate. The intent of this review is to introduce readers to the molecular, cellular, and systemic disorders of this disease. We discuss treatment strategies involving antibiotics, nutrition, immune-response mediators, chest physiotherapy, and sputum-active agents with respect to the airway dysfunction of cystic fibrosis. Other common complications, recent developments, transplantation, and gene therapy are also reviewed. PMID:8732732

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

    PubMed

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

    2011-01-01

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

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

    PubMed

    Cano Megías, Marta; González Albarrán, Olga

    2015-01-01

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

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

    PubMed

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

    1982-04-01

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

  11. Florid Cystic Endosalpingiosis (Müllerianosis) in Pregnancy

    PubMed Central

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

    2016-01-01

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

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

    SciTech Connect

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

    2013-03-01

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

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

    PubMed

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

    2012-01-01

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

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

    PubMed

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

    2009-12-01

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

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

    PubMed

    da Costa, Ronaldo C; Cook, Laurie B

    2016-03-01

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

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

    PubMed Central

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

    2014-01-01

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

  17. Reduced upper airway nitric oxide in cystic fibrosis.

    PubMed Central

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

    1996-01-01

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

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

    PubMed

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

    1993-11-15

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

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

    PubMed Central

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

    2017-01-01

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

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

    PubMed

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

    1980-09-01

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

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

    PubMed Central

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

    1991-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    Lobo, Leonard J; Noone, Peadar G

    2014-01-01

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

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

    PubMed Central

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

    1992-01-01

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

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  7. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

    NASA Astrophysics Data System (ADS)

    Rich, Devra P.; Anderson, Matthew P.; Gregory, Richard J.; Cheng, Seng H.; Paul, Sucharita; Jefferson, Douglas M.; McCann, John D.; Klinger, Katherine W.; Smith, Alan E.; Welsh, Michael J.

    1990-09-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in cultured cystic fibrosis airway epithelial cells and Cl- channel activation assessed in single cells using a fluorescence microscopic assay and the patch-clamp technique. Expression of CFTR, but not of a mutant form of CFTR (ΔF508), corrected the Cl- channel defect. Correction of the phenotypic defect demonstrates a causal relationship between mutations in the CFTR gene and defective Cl- transport which is the hallmark of the disease.

  8. Laparoscopic excision of a large retroperitoneal lymphovascular malformation in an adult

    PubMed Central

    Suryawanshi, Pravin R.; Agrawal, Mohit M.; Rathod, Mukesh D.; Mandhane, Anirudha M.

    2017-01-01

    Retroperitoneal lymphangioma is a rare benign tumour of the retroperitoneal lymphatics that usually manifests in infancy. It is worth reporting of an unexpected presentation, especially in an adult. They frequently affect the neck (75%) and the axilla (20%). Intra-abdominal lymphangiomas (<5%) have been reported in the mesentery, gastrointestinal tract, spleen, liver and pancreas. Retroperitoneal lymphangiomas account for nearly 1% of all lymphangiomas and are uncommon incidental findings usually at surgery, autopsy or lymphography. Differentiating cystic lymphangiomas from other cystic growths by imaging studies alone is often inconclusive, and surgery is frequently required for definitive diagnosis. An interesting and rare case of a retroperitoneal lymphangioma in an adult patient which was removed laparoscopically is described here. PMID:27251838

  9. Observations on the treatment of mediastinal masses in Hodgkin's disease emphasizing site of failure

    SciTech Connect

    Ryoo, M.C.; Kagan, A.R.; Wollin, M.; Nussbaum, H.; Chan, P.Y.; Hintz, B.L.; Rao, A.R.; McMahon, J.

    1987-06-01

    Of 244 patients with Hodgkin's disease, 126 (52%) had an abnormal mediastinum. Sixty-four patients were treated with radiation, 36 with radiation and chemotherapy, and 25 with chemotherapy alone as an initial treatment. Twenty of 52 (38%) with stage I or II who received initially radiation alone relapsed, and 70% (14 of 20) of them were salvaged with chemotherapy. Therefore, the ultimate failure rate was 12% (6 of 52). Forty percent (8 of 20) of these patients failed within or at the margin of the radiation portal, and 60% failed predominantly outside of the radiation field. Even though we did not treat the whole lung prophylactically, there was only one true peripheral lung recurrence. Nine of 20 (45%) recurred in more than one site. Of 36 patients treated with combined radiation and chemotherapy, 21 patients had stage I, II, or IIIA disease. Of these, two patients relapsed. Of 86 patients with accessible x-ray films, 30 patients had large masses with a ratio of mass to transverse diameter greater than .33 at the broadest level. Fifty-six patients had small masses. Survival at 96 months in patients with stages I-IIIA with either large or small masses is 94% (p = 0.80). Their relapse-free survival at 96 months is 79% for large masses and 95% for small masses (p = 0.18). The site of relapse is discussed in detail in the text. There were five treatment-related deaths; three patients died of acute myelogenous leukemia. Our data do not support the role of whole-lung prophylactic irradiation or initial combined radiotherapy and chemotherapy in patients with large mediastinal masses.

  10. The Transcriptome of Human Epicardial, Mediastinal and Subcutaneous Adipose Tissues in Men with Coronary Artery Disease

    PubMed Central

    Guauque-Olarte, Sandra; Gaudreault, Nathalie; Piché, Marie-Ève; Fournier, Dominique; Mauriège, Pascale; Mathieu, Patrick; Bossé, Yohan

    2011-01-01

    Background The biological functions of epicardial adipose tissue (EAT) remain largely unknown. However, the proximity of EAT to the coronary arteries suggests a role in the pathogenesis of coronary artery disease (CAD). The objectives of this study were to identify genes differentially regulated among three adipose tissues, namely EAT, mediastinal (MAT) and subcutaneous (SAT) and to study their possible relationships with the development of cardiovascular diseases. Methods and Results Samples were collected from subjects undergoing coronary artery bypass grafting surgeries. Gene expression was evaluated in the three adipose depots of six men using the Illumina® HumanWG-6 v3.0 expression BeadChips. Twenty-three and 73 genes were differentially up-regulated in EAT compared to MAT and SAT, respectively. Ninety-four genes were down-regulated in EAT compared to SAT. However, none were significantly down-regulated in EAT compared to MAT. More specifically, the expression of the adenosine A1 receptor (ADORA1), involved in myocardial ischemia, was significantly up-regulated in EAT. Levels of the prostaglandin D2 synthase (PTGDS) gene, recently associated with the progression of atherosclerosis, were significantly different in the three pairwise comparisons (EAT>MAT>SAT). The results of ADORA1 and PTGDS were confirmed by quantitative real-time PCR in 25 independent subjects. Conclusions Overall, the transcriptional profiles of EAT and MAT were similar compared to the SAT. Despite this similarity, two genes involved in cardiovascular diseases, ADORA1 and PTGDS, were differentially up-regulated in EAT. These results provide insights about the biology of EAT and its potential implication in CAD. PMID:21603615

  11. Endobronchial Ultrasound–guided Transbronchial Needle Aspiration Prevents Mediastinoscopies in the Diagnosis of Isolated Mediastinal Lymphadenopathy

    PubMed Central

    Lawrence, David R.; Kolvekar, Shyam; Hayward, Martin; McAsey, Dorcas; Kocjan, Gabrijela; Falzon, Mary; Capitanio, Arrigo; Shaw, Penny; Morris, Stephen; Omar, Rumana Z.; Janes, Sam M.

    2012-01-01

    Rationale: Patients with isolated mediastinal lymphadenopathy (IML) are a common presentation to physicians, and mediastinoscopy is traditionally considered the “gold standard” investigation when a pathological diagnosis is required. Endobronchial ultrasound–guided transbronchial needle aspiration (EBUS-TBNA) is established as an alternative to mediastinoscopy in patients with lung cancer. Objective: To determine the efficacy and health care costs of EBUS-TBNA as an alternative initial investigation to mediastinoscopy in patients with isolated IML. Methods: Prospective multicenter single-arm clinical trial of 77 consecutive patients with IML from 5 centers between April 2009 and March 2011. All patients underwent EBUS-TBNA. If EBUS-TBNA did not provide a diagnosis, then participants underwent mediastinoscopy. Measurements and Main Results: EBUS-TBNA prevented 87% of mediastinoscopies (95% confidence interval [CI], 77–94%; P < 0.001) but failed to provide a diagnosis in 10 patients (13%), all of whom underwent mediastinoscopy. The sensitivity and negative predictive value of EBUS-TBNA in patients with IML were 92% (95% CI, 83–95%) and 40% (95% CI, 12–74%), respectively. One patient developed a lower respiratory tract infection after EBUS-TBNA, requiring inpatient admission. The cost of the EBUS-TBNA procedure per patient was £1,382 ($2,190). The mean cost of the EBUS-TBNA strategy was £1,892 ($2,998) per patient, whereas a strategy of mediastinoscopy alone was significantly more costly at £3,228 ($5,115) per patient (P < 0.001). The EBUS-TBNA strategy is less costly than mediastinoscopy if the cost per EBUS-TBNA procedure is less than £2,718 ($4,307) per patient. Conclusions: EBUS-TBNA is a safe, highly sensitive, and cost-saving initial investigation in patients with IML. Clinical trial registered with ClinicalTrials.gov (NCT00932854). PMID:22652031

  12. Automatic localization of IASLC-defined mediastinal lymph node stations on CT images using fuzzy models

    NASA Astrophysics Data System (ADS)

    Matsumoto, Monica M. S.; Beig, Niha G.; Udupa, Jayaram K.; Archer, Steven; Torigian, Drew A.

    2014-03-01

    Lung cancer is associated with the highest cancer mortality rates among men and women in the United States. The accurate and precise identification of the lymph node stations on computed tomography (CT) images is important for staging disease and potentially for prognosticating outcome in patients with lung cancer, as well as for pretreatment planning and response assessment purposes. To facilitate a standard means of referring to lymph nodes, the International Association for the Study of Lung Cancer (IASLC) has recently proposed a definition of the different lymph node stations and zones in the thorax. However, nodal station identification is typically performed manually by visual assessment in clinical radiology. This approach leaves room for error due to the subjective and potentially ambiguous nature of visual interpretation, and is labor intensive. We present a method of automatically recognizing the mediastinal IASLC-defined lymph node stations by modifying a hierarchical fuzzy modeling approach previously developed for body-wide automatic anatomy recognition (AAR) in medical imagery. Our AAR-lymph node (AAR-LN) system follows the AAR methodology and consists of two steps. In the first step, the various lymph node stations are manually delineated on a set of CT images following the IASLC definitions. These delineations are then used to build a fuzzy hierarchical model of the nodal stations which are considered as 3D objects. In the second step, the stations are automatically located on any given CT image of the thorax by using the hierarchical fuzzy model and object recognition algorithms. Based on 23 data sets used for model building, 22 independent data sets for testing, and 10 lymph node stations, a mean localization accuracy of within 1-6 voxels has been achieved by the AAR-LN system.

  13. Accelerated radiotherapy and concurrent chemotherapy for patients with contralateral central or mediastinal lung cancer relapse after pneumonectomy

    PubMed Central

    Abu Jawad, Jehad; Gkika, Eleni; Freitag, Lutz; Lübcke, Wolfgang; Welter, Stefan; Gauler, Thomas; Schuler, Martin; Eberhardt, Wilfried Ernst Erich; Stamatis, Georgios; Stuschke, Martin

    2015-01-01

    Background Treatment options are very limited for patients with lung cancer who experience contralateral central or mediastinal relapse following pneumonectomy. We present results of an accelerated salvage chemoradiotherapy regimen. Methods Patients with localized contralateral central intrapulmonary or mediastinal relapse after pneumonectomy were offered combined chemoradiotherapy including concurrent weekly cisplatin (25 mg/m2) and accelerated radiotherapy [accelerated fractionated (AF), 60 Gy, 8×2 Gy per week] to reduce time for repopulation. Based on 4D-CT-planning, patients were irradiated using multifield intensity-modulated radiotherapy (IMRT) or helical tomotherapy. Results Between 10/2011 and 12/2012, seven patients were treated. Initial stages were IIB/IIIA/IIIB: 3/1/3; histopathological subtypes scc/adeno/large cell: 4/1/2. Tumour relapses were located in mediastinal nodal stations in five patients with endobronchial tumour in three patients. The remaining patients had contralateral central tumour relapses. All patients received 60 Gy (AF), six patients received concurrent chemotherapy. Median dose to the remaining contralateral lung, esophagus, and spinal cord was 6.8 (3.3-11.4), 8.0 (5.1-15.5), and 7.6 (2.8-31.2) Gy, respectively. With a median follow-up of 29 [17-32] months, no esophageal or pulmonary toxicity exceeding grade 2 [Common terminology criteria for adverse events (CTC-AE) v. 3] was observed. Median survival was 17.2 months, local in-field control at 12 months 80%. Only two local recurrences were observed, both in combination with out-field metastases. Conclusions This intensified accelerated chemoradiotherapy schedule was safely applicable and offers a curative chance in these pretreated frail lung cancer patients. PMID:25922702

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

    NASA Astrophysics Data System (ADS)

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

    1994-10-01

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

  15. Vitamin K Deficiency Presenting in an Infant with an Anterior Mediastinal Mass: A Case Report and Review of the Literature

    PubMed Central

    Winters, Amanda; Liang, Xiayuan; Nuss, Rachelle; Niermeyer, Susan; Gossling, Megan; Wright, Clyde

    2017-01-01

    We report a case of a 1-month-old infant with spontaneous thymic hemorrhage secondary to severe vitamin K deficiency. He was brought to medical attention due to scrotal bruising and during evaluation was noted to be tachypneic and hypoxemic. Chest X-ray revealed an enlarged cardiothymic silhouette, and a follow-up echocardiogram revealed a mass in the anterior mediastinum. Routine laboratory work-up revealed severe coagulopathy. Further questioning revealed the patient had not received prophylactic vitamin K at birth. The coagulopathy resolved with administration of vitamin K, and a biopsy confirmed the anterior mediastinal mass was due to spontaneous thymic hemorrhage. PMID:28280644

  16. Mediastinal emphysema after head-banging in a rock artist: pseudo shaken-baby syndrome in adulthood.

    PubMed

    Matsuzaki, Saeko; Tsunoda, Koichi; Chong, Tonghyo; Hamaguchi, Reo

    2012-12-01

    A 34-year-old man was seen because of severe right neck pain. He was a guitarist in a special type of heavy metal rock (so-called visual-kei, a subgenre related to glam-rock) band and habitually shook his head violently throughout concert performances. He regularly experienced neck and chest pain after a concert, which persisted for some time. Computed tomography scanning of the neck showed mediastinal emphysema. We surmise that head-banging resemble those of shaken-baby syndrome.

  17. Comparison and evaluation of experimental mediastinitis models: precolonized foreign body implants and bacterial suspension inoculation seems promising

    PubMed Central

    Ersoz, Gulden; Aytacoglu, Barlas Naim; Sucu, Nehir; Tamer, Lulufer; Bayindir, Ismet; Kose, Necmi; Kaya, Ali; Dikmengil, Murat

    2006-01-01

    Background Post-sternotomy mediastinitis (PSM) is a devastating surgical complication affecting 1–3% of patients that undergo cardiac surgery. Staphylococcus aureus is one of the most commonly encountered bacterial pathogen cultured from mediastinal samples obtained from patients with PSM. A component of the membrane of the gram positive bacteria, lipoteichoic acid, stimulates the blood monocytes and macrophages to secrete cytokines, radicals and nitrogen species leading to oxido-inflammatory damage. This seems to be responsible for the high mortality rate in PSM. For the evaluation of the pathogenesis of infection or for the investigation of alternative treatment models in infection, no standard model of mediastinitis seems to be available. In this study, we evaluated four mediastinitis models in rats. Methods The rats were divided into four groups to form different infection models. Group A: A suspension of 1 × 107 colony-forming units Staphylococcus aureus in 0,5 mL was inoculated from the right second intercostal space into the mediastinum. Group B: A hole was created in the right second intercostal space and a piece of stainless-steel implant with a length of 0.5 cm was inserted into the mediastinum and a suspension of 1 × 107 cfu bacteria in 0,5 mL was administered via the tail vein. Group C: Precolonized stainless-steel implant was inserted into the mediastinum. Group D: Precolonized stainless-steel implant was inserted into the mediastinum and the bacteria suspension was also injected into the mediastinum. On the 10th day, rats were sacrificed and the extension of infection in the mediastenae was evaluated by quantitative cultures. Myeloperoxidase activity (MPO) and malondialdehyde (MDA) levels were determined in the sera to evaluate the neutrophil activation and assess the inflammatory oxidation. Results The degree of infection in group C and D were 83.3% and 100% respectively (P < 0.001). MDA levels were significantly higher in these two groups than

  18. Economic Impact of Cystic Echinococcosis in Peru

    PubMed Central

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

    2011-01-01

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

  19. Lessons learned from the cystic fibrosis pig.

    PubMed

    Meyerholz, David K

    2016-07-01

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

  20. IRON HOMEOSTASIS DURING CYSTIC FIBROSIS PULMONARY EXACERBATION

    PubMed Central

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

    2012-01-01

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

  1. Whole exome sequencing of adenoid cystic carcinoma

    PubMed Central

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

    2013-01-01

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

  2. A millennial view of cystic fibrosis.

    PubMed

    Dodge, John A

    2015-01-01

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

  3. Sodium chloride deficiency in cystic fibrosis patients.

    PubMed

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

    1994-11-01

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

  4. Appetite stimulants use in cystic fibrosis.

    PubMed

    Nasr, Samya Z; Drury, Donna

    2008-03-01

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

  5. Tracheal microaspiration in adult cystic fibrosis.

    PubMed

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

    1998-01-01

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

  6. Is cystic fibrosis genetic medicine's canary?

    PubMed

    Lindee, Susan; Mueller, Rebecca

    2011-01-01

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

  7. Adenoid Cystic Carcinoma of the Skull Base

    PubMed Central

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

    1999-01-01

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

  8. Adenoid cystic carcinoma of breast: Recent advances

    PubMed Central

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

    2014-01-01

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

  9. Diagnosis of Cystic Echinococcosis, Central Peruvian Highlands

    PubMed Central

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

    2008-01-01

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

  10. The cystic fibrosis lower airways microbial metagenome

    PubMed Central

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

    2016-01-01

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

  11. The cystic fibrosis lower airways microbial metagenome.

    PubMed

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

    2016-04-01

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

  12. The Evolution of Cystic Fibrosis Care

    PubMed Central

    Ferkol, Thomas W.

    2015-01-01

    Cystic fibrosis (CF) is the most common life-limiting inherited illness of whites. Most of the morbidity and mortality in CF stems from impaired mucociliary clearance leading to chronic, progressive airways obstruction and damage. Significant progress has been made in the care of patients with CF, with advances focused on improving mucociliary clearance, minimizing inflammatory damage, and managing infections; these advances include new antimicrobial therapies, mucolytic and osmotic agents, and antiinflammatory treatments. More recently, researchers have targeted disease-causing mutations using therapies to promote gene transcription and improve channel function, which has led to impressive physiologic changes in some patients. As we develop more advanced, allele-directed therapies for the management of CF, it will become increasingly important to understand the specific genetic and environmental interactions that cause the significant heterogeneity of lung disease seen in the CF population. This understanding of CF endotypes will allow for more targeted, personalized therapies for future patients. This article reviews the genetic and molecular basis of CF lung disease, the treatments currently available, and novel therapies that are in development. PMID:25764168

  13. Cystic fibrosis and estrogens: a perfect storm

    PubMed Central

    Zeitlin, Pamela L.

    2008-01-01

    Irreversible destruction and widening of the airways due to acquired infections or genetic mutations as well as those of unknown cause are more severe in females. Differences between male and female anatomy, behavior, and hormonal state have been proposed to explain the increased incidence and severity in females with airway disease such as cystic fibrosis (CF); however, a mechanism to explain a sex-related difference has remained elusive. In this issue of the JCI, Coakley et al. report that elevations in the major estrogen hormone in humans — 17β-estradiol — reduce Ca2+-activated Cl– secretion by airway epithelial cells in culture, thereby disrupting ion and water balance (see the related article beginning on page 4025). They measure a similar diminution of nasal epithelial Ca2+-activated Cl– secretion in women with CF during the menstrual cycle phase at which 17β-estradiol level is at its highest. These data suggest that for about one week of a four-week menstrual cycle, women with CF will have a reduced ability to efficiently clear airway secretions, the buildup of which is a hallmark of CF. The authors suggest that these data warrant the testing of antiestrogen therapy in females with CF and propose an alternative avenue for CF therapeutic development. PMID:19033654

  14. An Unusual Presentation of Adenoid Cystic Carcinoma

    PubMed Central

    Gill, Kurren S.; Frattali, Mark A.

    2015-01-01

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

  15. [Inhaled antibiotic therapy in cystic fibrosis].

    PubMed

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

    2011-06-01

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

  16. Lentiviral Vectors and Cystic Fibrosis Gene Therapy

    PubMed Central

    Castellani, Stefano; Conese, Massimo

    2010-01-01

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

  17. Nearly total absence of pulmonary perfusion with corresponding technetium-99m MDP and gallium-67 uptake in a patient with mediastinal neuroblastoma

    SciTech Connect

    Garty, I.; Koren, A.; Moguilner, G.; Dharan, M.; Siplovitch, L.

    1985-08-01

    A case of unilateral nearly total hypoperfusion of the left lung in a 13-month-old girl is presented. The combination of the lung hypoperfusion and accumulation of the Tc-99m MDP and Ga-67 citrate in the same area suggested the preoperative diagnosis of mediastinal neuroblastoma. Explorative thoracotomy revealed the presence of a neuroblastoma compressing the left lung pedicle. The described scintigraphic appearance in the pediatric age group is suggested as typical of mediastinal neuroblastoma. This pathology should be included in the following gamuts in nuclear medicine: unilateral decrease or absent lung perfusion, unilateral diffuse chest uptake of Ga-67 citrate, and unilateral pulmonary uptake in bone scintigraphy.

  18. Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

    PubMed Central

    Farrell, Philip M.; Rosenstein, Beryl J.; White, Terry B.; Accurso, Frank J.; Castellani, Carlo; Cutting, Garry R.; Durie, Peter R.; Legrys, Vicky A.; Massie, John; Parad, Richard B.; Rock, Michael J.; Campbell, Preston W.

    2009-01-01

    Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF. PMID:18639722

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

    PubMed

    Derichs, Nico

    2013-03-01

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

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

    PubMed

    Farrell, Philip M; Rosenstein, Beryl J; White, Terry B; Accurso, Frank J; Castellani, Carlo; Cutting, Garry R; Durie, Peter R; Legrys, Vicky A; Massie, John; Parad, Richard B; Rock, Michael J; Campbell, Preston W

    2008-08-01

    Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF.

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

    PubMed

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

    2013-06-14

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

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

    PubMed

    Marcet, Brice; Boeynaems, Jean-Marie

    2006-12-01

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

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

    PubMed

    Goggolidou, Paraskevi

    2014-01-01

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

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

    PubMed

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

    2010-01-01

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

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

    PubMed

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

    2013-08-01

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

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

    PubMed

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

    2017-01-01

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

  7. Endoscopic approach to the diagnosis of pancreatic cystic tumor

    PubMed Central

    Kawaguchi, Yoshiaki; Mine, Tetsuya

    2016-01-01

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

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

    PubMed

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

    2013-07-01

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

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

    PubMed

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

    2013-09-01

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

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

    PubMed Central

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

    2016-01-01

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

  11. Mediastinal lymph node detection on thoracic CT scans using spatial prior from multi-atlas label fusion

    NASA Astrophysics Data System (ADS)

    Liu, Jiamin; Zhao, Jocelyn; Hoffman, Joanne; Yao, Jianhua; Zhang, Weidong; Turkbey, Evrim B.; Wang, Shijun; Kim, Christine; Summers, Ronald M.

    2014-03-01

    Lymph nodes play an important role in clinical practice but detection is challenging due to low contrast surrounding structures and variable size and shape. We propose a fully automatic method for mediastinal lymph node detection on thoracic CT scans. First, lungs are automatically segmented to locate the mediastinum region. Shape features by Hessian analysis, local scale, and circular transformation are computed at each voxel. Spatial prior distribution is determined based on the identification of multiple anatomical structures (esophagus, aortic arch, heart, etc.) by using multi-atlas label fusion. Shape features and spatial prior are then integrated for lymph node detection. The detected candidates are segmented by curve evolution. Characteristic features are calculated on the segmented lymph nodes and support vector machine is utilized for classification and false positive reduction. We applied our method to 20 patients with 62 enlarged mediastinal lymph nodes. The system achieved a significant improvement with 80% sensitivity at 8 false positives per patient with spatial prior compared to 45% sensitivity at 8 false positives per patient without a spatial prior.

  12. Effect of mediastinal irradiation on cardiac function of patients treated during childhood and adolescence for Hodgkin's disease

    SciTech Connect

    Green, D.M.; Gingell, R.L.; Pearce, J.; Panahon, A.M.; Ghoorah, J.

    1987-02-01

    To determine the frequency of cardiac dysfunction in patients treated during childhood or adolescence with mediastinal irradiation for Hodgkin's disease (HD), 28 patients underwent cardiac evaluation 19 to 182 months (median, 90 months) after the completion of radiation therapy. No patient had symptoms of cardiac disease. All were normotensive. All patients had a normal cardiothoracic ratio. There were no abnormalities of voltage or rhythm in the ECGs. The left ventricular end diastolic volume was increased in 19.2% of patients, none of whom had evidence of impaired left ventricular function. The left ventricular ejection fraction (LVEF) was increased in 15.3% of patients. No patient had a decreased LVEF. Pericardial thickening was demonstrated on echocardiograms from 12 of 28 patients (42.9%). Thickening was more frequent among those patients observed for 72 or more months (47.1%; eight of 17) than among those with shorter periods of follow-up (36.4%; four of 11). This study demonstrates that cardiac dysfunction is an infrequent sequela of mediastinal irradiation following treatment using an equally weighted, anterior-posterior technique. Longitudinal study of these patients will be necessary to determine the clinical significance and evolution of the occult pericardial thickening that was identified.

  13. A case report of mediastinal ectopic parathyroid adenoma presented as parathyroid crisis localized by SPECT/CT

    PubMed Central

    Zhou, Weibin; Chen, Min

    2016-01-01

    Abstract Introduction: Parathyroid crisis due to ectopic parathyroid adenomas can pose diagnostic and management challenges, since it is quite rare in clinical practice. Clinical Findings/Patient Concerns: A 67-year-old Chinese male presented as a parathyroid crisis due to an ectopic mediastinal parathyroid adenoma with his serum calcium and PTH markedly increased in short time. An ultrasonography and computed tomography (CT) scan of the neck did not reveal any parathyroid adenoma. Thoracic CT detected a contrast-enhanced mass in the mediastinum. Although the ectopic location is difficult to appreciate on anterior planar technetium-99m-sestamibi scintigraphy views but has been accurately localized with single photon-emission computed tomography/computed tomography. After fluid resuscitation, loop diuretic, and calcitonin treatment, a thoracoscope surgery was performed. The histopathology of the mediastinal nodule was consistent with a parathyroid adenoma. Hypocalcemia due to hungry bone syndrome occurred after surgery and was resolved quickly with large-dose calcium and calcitriol supplementation. He is asymptomatic and has normal serum calcium and PTH levels on regular follow-up. Diagnoses: The ultrasonography, CT, sestamibi, and single photon-emission computed tomography/computed tomography provide limited sensitivity in the detecting ectopic parathyroid adenomas alone. The combination of these techniques has incremental value in localizing ectopic parathyroid adenomas over either technique alone. Conclusion: Any parathyroid crisis without parathyroid adenoma in the neck should alert physicians to search for ectopic locations through combination of imaging techniques. PMID:27741147

  14. Genomic Landscape of Primary Mediastinal B-Cell Lymphoma Cell Lines

    PubMed Central

    Nagel, Stefan; Eberth, Sonja; Pommerenke, Claudia; Dirks, Wilhelm G.; Geffers, Robert; Kalavalapalli, Srilaxmi; Kaufmann, Maren; Meyer, Corrina; Faehnrich, Silke; Chen, Suning; Drexler, Hans G.; MacLeod, Roderick A. F.

    2015-01-01

    Primary mediastinal B-Cell lymphoma (PMBL) is a recently defined entity comprising ~2–10% non-Hodgkin lymphomas (NHL). Unlike most NHL subtypes, PMBL lacks recurrent gene rearrangements to serve as biomarkers or betray target genes. While druggable, late chemotherapeutic complications warrant the search for new targets and models. Well characterized tumor cell lines provide unlimited material to serve as preclinical resources for verifiable analyses directed at the discovery of new biomarkers and pathological targets using high throughput microarray technologies. The same cells may then be used to seek intelligent therapies directed at clinically validated targets. Four cell lines have emerged as potential PMBL models: FARAGE, KARPAS-1106P, MEDB-1 and U-2940. Transcriptionally, PMBL cell lines cluster near c(lassical)-HL and B-NHL examples showing they are related but separate entities. Here we document genomic alterations therein, by cytogenetics and high density oligonucleotide/SNP microarrays and parse their impact by integrated global expression profiling. PMBL cell lines were distinguished by moderate chromosome rearrangement levels undercutting cHL, while lacking oncogene translocations seen in B-NHL. In total 61 deletions were shared by two or more cell lines, together with 12 amplifications (≥4x) and 72 homozygous regions. Integrated genomic and transcriptional profiling showed deletions to be the most important class of chromosome rearrangement. Lesions were mapped to several loci associated with PMBL, e.g. 2p15 (REL/COMMD1), 9p24 (JAK2, CD274), 16p13 (SOCS1, LITAF, CIITA); plus new or tenuously associated loci: 2p16 (MSH6), 6q23 (TNFAIP3), 9p22 (CDKN2A/B), 20p12 (PTPN1). Discrete homozygous regions sometimes substituted focal deletions accompanied by gene silencing implying a role for epigenetic or mutational inactivation. Genomic amplifications increasing gene expression or gene-activating rearrangements were respectively rare or absent. Our findings

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

    ERIC Educational Resources Information Center

    Strawhacker, MaryAnn Tapper; Wellendorf, Joyce

    2004-01-01

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

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

    PubMed

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

    2015-10-01

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

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

    PubMed

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

    1985-01-01

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

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

    PubMed Central

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

    1996-01-01

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

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

    PubMed

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

    2016-06-01

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

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

    PubMed

    Prescott, William A; Johnson, Cary E

    2005-04-01

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

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

    PubMed

    Grigoriadis, Charalampos; Tympa, Aliki; Theodoraki, Kassiani

    2015-03-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    Zhang, Zhe; Chen, Jue

    2016-12-01

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

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

    PubMed

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

    2008-02-01

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

  5. Cystic Fibrosis in the African Diaspora.

    PubMed

    Stewart, Cheryl; Pepper, Michael S

    2017-01-01

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

  6. Gastroesophageal Reflux Disease in Children with Cystic Fibrosis.

    PubMed

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

    2015-01-01

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

  7. Novel molecular approaches to cystic fibrosis gene therapy

    PubMed Central

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

    2005-01-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    1986-01-01

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

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

    PubMed

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

    2013-04-04

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

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2017-01-01

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

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

    PubMed Central

    2012-01-01

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

  14. The Approach to Pseudomonas aeruginosa in Cystic Fibrosis.

    PubMed

    Talwalkar, Jaideep S; Murray, Thomas S

    2016-03-01

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

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

    PubMed

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

    2014-02-01

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

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

    PubMed

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

    2013-12-14

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

  17. Cystic fibrosis genetics: from molecular understanding to clinical application

    PubMed Central

    Cutting, Garry R.

    2015-01-01

    The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethalautosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the d iscove1y of the disease-causing gene. PMID:25404111

  18. Contrast-enhanced fluorodeoxyglucose positron emission tomography/contrast-enhanced computed tomography in mediastinal T-cell lymphoma with superior vena cava syndrome.

    PubMed

    Santhosh, Sampath; Gorla, Arun Kumar Reddy; Bhattacharya, Anish; Varma, Subhash Chander; Mittal, Bhagwant Rai

    2016-01-01

    Positron emission tomography-computed tomography (PET/CT) is a routine investigation for the staging of lymphomas. Contrast-enhanced computed tomography is mandatory whenever parenchymal lesions, especially in the liver and spleen are suspected. We report a rare case of primary mediastinal T-cell lymphoma evaluated with contrast-enhanced PET/CT that showed features of superior vena cava syndrome.

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

    PubMed

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

    1999-06-11

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

  20. A randomized trial of early versus delayed mediastinal drain removal after cardiac surgery using silastic and conventional tubes

    PubMed Central

    Moss, Emmanuel; Miller, Corey S.; Jensen, Henrik; Basmadjian, Arsène; Bouchard, Denis; Carrier, Michel; Perrault, Louis P.; Cartier, Raymond; Pellerin, Michel; Demers, Philippe

    2013-01-01

    OBJECTIVES Mediastinal drainage following cardiac surgery with traditional large-bore plastic tubes can be painful and cumbersome. This study was designed to determine whether prolonged drainage (5 days) with a silastic tube decreased the incidence of significant pericardial effusion and tamponade following aortic or valvular surgery. METHODS One hundred and fifty patients undergoing valvular or aortic surgery in a tertiary cardiac surgery institution were randomized to receive a conventional mediastinal tube plus a silastic Blake drain (n = 75), or two conventional tubes (n = 75). Conventional drains were removed on postoperative day (POD) 1, while Blake drains were removed on POD 5. The primary end-point was the combined incidence of significant pericardial effusion (≥15 mm) or tamponade through POD 5. Secondary end-points included total mediastinal drainage, postoperative atrial fibrillation (AF) and pain. RESULTS Analysis was performed for 67 patients in the Blake group and 73 in the conventional group. There was no difference between the two groups in the combined end-point of significant effusion or tamponade (7.4 vs 8.3%, P = 0.74), or in the incidence of AF (47 vs 46%, P = 0.89). Mean 24-h drainage was greater in the Blake group than in the conventional group (749 ± 444 ml vs 645 ± 618 ml, P < 0.01). Overall incidence of significant pericardial effusion at 30 days was 12.1% (n = 17), with 5% (n = 7) requiring drainage. The Blake group had a numerically lower incidence of effusion requiring drainage at POD 30 (3.0 vs 6.8%, P = 0.44). Postoperative pain was similar between groups. CONCLUSIONS In patients undergoing ascending aortic or valvular surgery, prolonged drainage with silastic tubes is safe and does not increase postoperative pain. There was no difference between the Blake and conventional drains with regard to significant pericardial effusion or tamponade in this cohort; however, this conclusion is limited by the low overall incidence of the