Muscular strength after different types of training in physically active patients with cystic fibrosis

DEFF Research Database (Denmark)

Sahlberg, M.; Svantesson, U.; Magnusson, Thomas E.

2008-01-01

Physical training is important in the treatment of patients with cystic fibrosis (CF). Optimal types of training and intensity are unknown. The aim of the study was to evaluate the effect on muscular strength after 6 months of endurance training (ET) and/or resistance training (RT). Twenty patients....... Vitamin E and cytokines were analyzed. Fifteen tests of muscular strength were used. Handgrip strength in females and quadriceps strength in males were significantly decreased compared with healthy age- and sex-matched controls and positively associated with lung function. Sixteen patients completed...

Cystic thymic diseases: CT manifestations

International Nuclear Information System (INIS)

Song, Soon Young; Choi, Yo Won; Jeon, Eui Yong; Jeon, Seok Chol; Seo, Heung Suk; Hahm, Chang Kok

1995-01-01

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

HLA –DRB1*, DQB1* Alleles In Hydatid Patients By Molecular Typing

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mehdi Mosayebi

2007-10-01

Full Text Available Mosayebi M1, Dalimi Asl A2, Moazeni M3, Mosayebi Gh4 1. Ph.D Student, Department of Parasitology, Faculty of medicine, Tarbiat Modarres University 2. Professor, Department of Parasitology, Faculty of medicine, Tarbiat Modarres University 3. Professor, Department of Immunology, Faculty of medicine, Tarbiat Modarres University 4. Assistant professor, Department of Immunology, Faculty of medicine, Arak Medical Sciences University Abstract Background: Hydatidosis is a important disease that results from infection with larvae of the dog tape worm , Echinococcus granulosus in human and farm animals .Resistance or susceptibility to infectious diseases , for example , cystic and alveolar echinococcosis is restricted by individual host factors and immunologic responses,in many surveys has been shown.The target of this study that is the first survey dealing with the correlation between HLA-DRB1*& DQB1* alleles and cystic echinococcosis in Iranian patient,is investigation HLA-DRB1*and DQB1* allelic polymorphism in Iranian patient with hydatidosis . Materials and methods: The study was carried out on 56 patients with confirmed cystic echinococcosis and 30 apparently healthy individuals living on Arak area by HLA-DRB1*& DQB1* typing with PCR-SSP method.The first step was founding patients and blood sampling .DNA was prepared from whole blood and we used PCR-SSP with 31 primer mixes for per sample . PCR reaction mixtures were loaded in agarose gels and after electrophoresis , geles were examine under UV illumination and gel document . Analyse of results carried out with specific software and frequency& interpretation tables and homogeneity test for calculation of P-value in χ2 test with fisher΄s exact test . significant samples with logistic regression analysed and Odds-ratio calculate . Results: A statistically significant positive association was found between HLA-DQB1*02 and the occurrence of cystic echinococcosis(P<0.05,(Odds-ratio=2.87 Conclusion: The

Efficacy of electrocoagulation in sealing the cystic artery and cystic duct occluded with only one absorbable clip during laparoscopic cholecystectomy.

Science.gov (United States)

Yang, Chang-Ping; Cao, Jin-Lin; Yang, Ren-Rong; Guo, Hong-Rong; Li, Zhao-Hui; Guo, Hai-Ying; Shao, Yin-Can; Liu, Gui-Bao

2014-02-01

Even though laparoscopic cholecystectomy (LC) emerged over 20 years ago, controversies persist with regard to the best method to ligate the cystic duct and artery. We proposed to assess the effectiveness and safety of electrocoagulation to seal the cystic artery and cystic duct after their occlusion with only one absorbable clip. We retrospectively compared the clinical data for 635 patients undergoing LC using electrocoagulation to seal the cystic artery and cystic duct that were occluded with only one absorbable clip (Group 1) and 728 patients undergoing LC using titanium clips (Group 2). In parallel, 30 rabbits randomized into six groups underwent cholecystectomy. After cystic duct ligation with absorbable or titanium clips, the animals were sacrificed 1, 3, or 6 months later, and intraabdominal adhesions were assessed after celiotomy. The mean operative time was significantly shorter (41.6 versus 58.9 minutes, PElectrocoagulation of the cystic artery and cystic duct that were occluded with only one absorbable clip is safe and effective during LC. This approach is associated with shortened operative times and reduced leakage, compared with the standard method using metal clips.

Cystic neutrophilic granulomatous mastitis: an underappreciated pattern strongly associated with gram-positive bacilli.

Science.gov (United States)

Renshaw, Andrew A; Derhagopian, Robert P; Gould, Edwin W

2011-09-01

Although granulomatous lobular mastitis is associated with gram-positive bacilli such as Corynebacterium, this association is not well known. We report 3 cases of mastitis caused by gram-positive bacilli. All 3 abscesses were suppurative with distinct enlarged cystic spaces in which rare gram-positive bacilli were identified. Two cases were also granulomatous. Cultures in all 3 cases were negative. All 3 patients recovered after biopsy and tetracycline-based therapy. Infection in the breast by gram-positive bacilli is associated with a distinct histologic pattern, including cystic spaces in the setting of neutrophilic/granulomatous inflammation that can be recognized and should prompt careful search for the organism within enlarged vacuoles.

Cystic thymic diseases: CT manifestations

Energy Technology Data Exchange (ETDEWEB)

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

1995-09-15

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

Intra-cystic concentrations of albendazole-sulphoxide in human cystic echinococcosis: a systematic review and analysis of individual patient data.

Science.gov (United States)

Lötsch, Felix; Naderer, Judith; Skuhala, Tomislava; Groger, Mirjam; Auer, Herbert; Kaczirek, Klaus; Waneck, Fredrik; Ramharter, Michael

2016-08-01

Cystic echinococcosis (CE) is a widespread zoonosis caused by the species complex Echinococcus granulosus. Albendazole (ABZ)-the first-line anthelminthic drug for medical treatment of CE-is metabolized in vivo to the active derivative ABZ-sulphoxide (ABZ-SO). Target-site ABZ-SO concentrations in the hydatid cyst mediate the anthelminthic effect in CE. Primary outcome of this systematic review of individual patient data was the intra-cystic ABZ-SO concentration stratified by cyst size, location, calcification status and use of praziquantel. Studies reporting intra-cystic ABZ-SO concentrations in humans were identified by a systematic search. A pooled analysis of individual patient data was performed to assess intra-cystic concentrations. Pharmacokinetic data of 121 individual cysts were analysed. There was no correlation between plasma and intra-cystic ABZ-SO concentrations (rho = -0.03, p = 0.76). Intra-cystic drug concentrations were also not associated with sex and treatment duration. Use of praziquantel in combination with ABZ was associated with higher plasma (median 540 vs. 240 μg/L; p = 0.04) but not intra-cystic ABZ-SO concentrations (median 220 vs. 199 μg/L; p = 0.36). Relative drug concentrations in hepatic cysts were higher than in other cysts (0.8 vs. 0.4; p = 0.05). Intra-cystic concentrations were higher in calcified than non-calcified cysts (median 897 vs. 245 μg/L; p = 0.03). There was a trend towards higher intra-cystic concentrations in smaller sized cysts (β = -17.2 μg/L/cm; 95th CI, -35.9 to 1.6; p = 0.07). This study demonstrates that mean intra-cystic drug concentrations are similar to plasma concentrations on a population level. However, in individual patients plasma concentrations are not directly predictive for intra-cystic concentrations. The use of booster drugs was not associated with higher intra-cystic ABZ-SO concentrations in this analysis.

Association between renal cystic lesions and bilateral Wilms' tumours

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Simanovsky, Natalia; Hiller, Nurith [Hadassah-Hebrew University Medical Center at Mt Scopus, Department of Medical Imaging, POB 12000, Jerusalem (Israel); Revel-Vilk, Shoshana; Weintraub, Michael [Hadassah-Hebrew University Medical Center, Department of Pediatric Hematology/ Oncology, Jerusalem (Israel)

2016-06-15

Evaluate a potential association between Wilms' tumour (WT) and renal cystic lesions. Digital records and imaging files of consecutive patients diagnosed with WT between 2004 and 2014 were retrospectively reviewed under an Institutional Review Board waiver of informed consent. The locations of renal cysts seen on US, CT, and/or MRI were recorded and compared with the locations of newly developed WT. A total of 48 patients (mean age 3 years 9 months) presented with newly diagnosed WT in the study period. Mean follow-up was 4.5 (range 1-10) years. WT was unilateral in 40 children, bilateral in 8. Renal cysts were identified in only one of the forty patients (2.5 %) with unilateral disease - in the contralateral kidney. In contrast, renal cysts were found in seven of eight patients with bilateral WT (87.5 %), in two of whom, new tumours developed in the same location where cysts had been seen on previous imaging studies. Renal cystic lesions in patients with Wilms' tumour should be regarded as potential tumour precursors, and followed with frequent imaging. (orig.)

Combined Bicarbonate Conductance-Impairing Variants in CFTR and SPINK1 Are Associated with Chronic Pancreatitis in Patients without Cystic Fibrosis

Science.gov (United States)

Schneider, Alexander; LaRusch, Jessica; Sun, Xiumei; Aloe, Amy; Lamb, Janette; Hawes, Robert; Cotton, Peter; Brand, Randall E.; Anderson, Michelle A.; Money, Mary E.; Banks, Peter A.; Lewis, Michele D.; Baillie, John; Sherman, Stuart; DiSario, James; Burton, Frank R.; Gardner, Timothy B.; Amann, Stephen T.; Gelrud, Andres; George, Ryan; Kassabian, Sirvart; Martinson, Jeremy; Slivka, Adam; Yadav, Dhiraj; Oruc, Nevin; Barmada, M. Michael; Frizzell, Raymond; Whitcomb, David C.

2010-01-01

Background & Aims Idiopathic chronic pancreatitis (ICP) is a complex inflammatory disorder associated with multiple genetic and environmental factors. In individuals without cystic fibrosis (CF), variants of CFTR that inhibit bicarbonate conductance but maintain chloride conductance might selectively impair secretion of pancreatic juice, leading to trypsin activation and pancreatitis. We investigated whether sequence variants in the gene encoding the pancreatic secretory trypsin inhibitor, SPINK1, further increase the risk of pancreatitis in these patients. Methods We screened patients with ICP (sporadic or familial) and controls for variants in SPINK1 associated with chronic pancreatitis (CP) risk (in exon 3) and in all 27 exons of CFTR. The final study group included 53 patients with sporadic ICP, 27 probands with familial ICP, and 150 unrelated controls, plus 503 controls for limited genotyping. CFTR wild-type (wt) and p.R75Q were cloned and expressed in HEK293 cells and relative conductances of HCO3− and Cl− were measured. Results SPINK1 variants were identified in 36% of subjects and 3% controls (odds ratio [OR]=16.5). One variant of CFTR that has not been associated with CF, p.R75Q, was found in 16% of subjects and 5.4% controls (OR=3.4). Co-inheritance of CFTR p.R75Q and SPINK1 variants occurred in 8.75% of patients and 0.15% controls (OR=62.5). Patch-clamp recordings of cells that expressed CFTR p.R75Q demonstrated normal chloride currents but significantly reduced bicarbonate currents (P=0.0001). Conclusions The CFTR variant p.R75Q causes a selective defect in bicarbonate conductance and increases risk for pancreatitis. Co-inheritance of CF-associated, and some not associated, CFTR variants with SPINK1 variants significantly increase risk of ICP. PMID:20977904

ASSOCIATION OF NUTRITIONAL STATUS WITH LUNG FUNCTION AND MORBIDITY IN CHILDREN AND ADOLESCENTS WITH CYSTIC FIBROSIS: A 36-MONTH COHORT STUDY.

Science.gov (United States)

Hauschild, Daniela Barbieri; Rosa, Anauã Franco; Ventura, Julia Carvalho; Barbosa, Eliana; Moreira, Emília Addison Machado; Ludwig Neto, Norberto; Moreno, Yara Maria Franco

2018-01-01

To evaluate the association between nutritional status, lung function and morbidity in a 36-month cohort in children and adolescents with cystic fibrosis. Prospective cohort of children and adolescents with cystic fibrosis aged 1-15 years. At the baseline, the nutritional status was determined by weight-for-height and body mass index-for-age for children 36 months. Those classified bellow the 50th percentile had a RR of 4.61 (95%CI 0.89; 23.81) to present the same outcome. Nutritional status was not a risk factor for morbidity in this cohort. Nutritional deficit was associated with impaired lung function, but not with morbidity in children and adolescents with cystic fibrosis.

Hypercalcemia Associated with a Malignant Brenner Tumor Arising from a Mature Cystic Teratoma

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Michael C. Honigberg

2012-11-01

Full Text Available A 60-year-old woman presented with abdominal pain and weight loss and was found to have serum calcium of 15.0 mg/dl. Serum parathyroid hormone-related peptide (PTHrP returned elevated. Imaging suggested bilateral mature cystic teratomas. Her hypercalcemia was treated initially with intravenous saline, as well as intramuscular and subcutaneous calcitonin. She underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy, and final pathology revealed malignant Brenner tumor in association with a mature cystic teratoma. Her postoperative PTHrP returned less than assay, and her total and ionized calcium fell below normal, requiring supplemental calcium and vitamin D. At follow-up one month after discharge, her calcium had normalized. We present the first reported case of hypercalcemia occurring in association with a malignant Brenner tumor. Malignancy-associated hypercalcemia occurs via four principal mechanisms: (1 tumor production of PTHrP; (2 osteolytic bone involvement by primary tumor or metastasis; (3 ectopic activation of vitamin D to 1,25-(OH2 vitamin D, and (4 ectopic production of parathyroid hormone. PTHrP-mediated hypercalcemia is the most common mechanism and was responsible in this case. In patients with paraneoplastic hypercalcemia who undergo surgical treatment, close monitoring and management of serum calcium is necessary both pre- and postoperatively.

Incidence of cystic changes in impacted lower third molar

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Shridevi R Adaki

2013-01-01

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

Non-neoplastic cystic and cystic-like lesions of the pancreas: may mimic pancreatic cystic neoplasms.

Science.gov (United States)

Goh, Brian K P; Tan, Yu-Meng; Chung, Yaw-Fui A; Chow, Pierce K H; Ong, Hock-Soo; Lim, Dennis T H; Wong, Wai-Keong; Ooi, London L P J

2006-05-01

Cystic lesions of the pancreas consist of a broad range of pathological entities. With the exception of the pancreatic pseudocyst, these are usually caused by pancreatic cystic neoplasms. Non-neoplastic pancreatic cystic and cystic-like lesions are extremely rare. In the present article, the surgical experience with these unusual entities over a 14-year period is reported. Between 1991 and 2004, all patients who underwent surgical exploration for a cystic lesion of the pancreas were retrospectively reviewed. Patients with a pancreatic pseudocyst were excluded. There were 106 patients of whom 8 (7.5%) had a final pathological diagnosis consistent with a non-neoplastic pancreatic cystic or cystic-like lesion, including 3 patients with a benign epithelial cyst, 2 with a pancreatic abscess (one tuberculous and one foreign body), 2 with mucous retention cysts and 1 with a mucinous non-neoplastic cyst. These eight patients are the focus of this study. There were six female and two male patients with a median age of 61.5 years (range, 41-71 years). All the patients were of Asian origin including seven Chinese and one Indian. Four of the patients were asymptomatic and their pancreatic cysts were discovered incidentally on radiological imaging for other indications. All the patients underwent preoperative radiological investigations, including ultrasonography, computed tomography or magnetic resonance imaging, which showed a cystic lesion of the pancreas. Three patients, all of whom were symptomatic, were diagnosed preoperatively with a malignant cystic neoplasm on the basis of radiological imaging. Two patients were eventually found to have a pancreatic abscess, one tuberculous and the other, secondary to foreign body perforation. The third patient was found on final histology to have chronic pancreatitis with retention cysts. The remaining five patients had a preoperative diagnosis of an indeterminate cyst; on pathological examination, they were found to have a benign

FOXO1 Content Is Reduced in Cystic Fibrosis and Increases with IGF-I Treatment

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Arianna Smerieri

2014-10-01

Full Text Available Cystic fibrosis-related diabetes is to date the most frequent complication in cystic fibrosis (CF. The mechanisms underlying this condition are not well understood, and a possible role of insulin resistance is debated. We investigated insulin signal transduction in CF. Total insulin receptor, IRS1, p85 PI3K, and AKT contents were substantially normal in CF cells (CFBE41o-, whereas winged helix forkhead (FOXO1 contents were reduced both in baseline conditions and after insulin stimulation. In addition, CF cells showed increased ERK1/2, and reduced β2 arrestin contents. No significant change in SOCS2 was observed. By using a CFTR inhibitor and siRNA, changes in FOXO1 were related to CFTR loss of function. In a CF-affected mouse model, FOXO1 content was reduced in the muscle while no significant difference was observed in liver and adipose tissue compared with wild-type. Insulin-like growth factor 1 (IGF-I increased FOXO1 content in vitro and in vivo in muscle and adipose tissue. In conclusion; we present the first description of reduced FOXO1 content in CF, which is compatible with reduced gluconeogenesis and increased adipogenesis, both features of insulin insensitivity. IGF-I treatment was effective in increasing FOXO1, thereby suggesting that it could be considered as a potential treatment in CF patients possibly to prevent and treat cystic fibrosis-related diabetes.

Ivacaftor: A Novel Gene-Based Therapeutic Approach for Cystic Fibrosis

OpenAIRE

Condren, Michelle E.; Bradshaw, Marquita D.

2013-01-01

Ivacaftor is a new therapeutic agent that acts at the cystic fibrosis transmembrane conductance regulator (CFTR) channel to alter activity. It is approved for use in patients 6 years and older with cystic fibrosis who have at least 1 G551D mutation in the CFTR gene. It is unlike any other current pharmacologic agent for cystic fibrosis in that it specifically targets the gene defect associated with cystic fibrosis as opposed to treating resulting symptomology. Mucoactive agents, antibiotics, ...

Cystic tumours of the pancreas

Energy Technology Data Exchange (ETDEWEB)

Itai, Y. [Dept. of Radiology, Inst. of Clinical Medicine, Tsukuba Univ. (Japan); Ohtomo, K. [Univ. of Tokyo Hospital, Tokyo (Japan)

1996-12-01

In this pictorial essay we present the typical appearances of cystic pancreatic tumours, the wide spectrum of their features, and differential features among cystic pancreatic masses with an emphasis on CT. Pseudocysts are the most common cystic lesion in the pancreas and can be induced by pancreatitis, trauma or surgery. Pseudocysts appear as a round cystic mass with a definite wall. However, they can mimic cystic tumours associated with internal septation and/or necrotic mass of various shapes. Conversely, cystic tumours can appear as a simple cyst lacking any thickening of wall, septation or mural nodule. Pancreatic carcinoma not infrequently induces secondary cysts upstream of the obstructed pancreatic duct. The cysts are pseudocysts or retention cysts in nature. When cysts are formed in the pancreatic parenchyma or adjacent to pancreatic carcinoma they may mimic cystic tumour. (orig./VHE)

Cystic tumours of the pancreas

International Nuclear Information System (INIS)

Itai, Y.; Ohtomo, K.

1996-01-01

In this pictorial essay we present the typical appearances of cystic pancreatic tumours, the wide spectrum of their features, and differential features among cystic pancreatic masses with an emphasis on CT. Pseudocysts are the most common cystic lesion in the pancreas and can be induced by pancreatitis, trauma or surgery. Pseudocysts appear as a round cystic mass with a definite wall. However, they can mimic cystic tumours associated with internal septation and/or necrotic mass of various shapes. Conversely, cystic tumours can appear as a simple cyst lacking any thickening of wall, septation or mural nodule. Pancreatic carcinoma not infrequently induces secondary cysts upstream of the obstructed pancreatic duct. The cysts are pseudocysts or retention cysts in nature. When cysts are formed in the pancreatic parenchyma or adjacent to pancreatic carcinoma they may mimic cystic tumour. (orig./VHE)

A PROSPECTIVE COHORT STUDY OF CYSTIC LESIONS OF THE BREAST, THEIR TYPES AND MANAGEMENT

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Geethakumari G. R

2017-06-01

Full Text Available BACKGROUND Mass lesions of the breast require sonological evaluation in women of any age group. It is difficult to reach a diagnosis of the cause of the mass lesion without ultrasonographic correlation. This study aims at evaluating subjects who underwent ultrasonography for evaluation of cystic mass lesion of the breast. Objective- To evaluate subjects presented with cystic lesions of the breast using ultrasonography and to understand the management of different types of cystic lesions of breast. MATERIALS AND METHODS 80 sonologically detected cystic lesions of the breast were enrolled in the study and were followed up for a minimum period of 6 months. Study was conducted after IEC approval and written informed consent was obtained from each study participant. RESULTS Majority of the study subjects (36.25% were in the age range of 41-50 years. 53.75% of the study subjects had simple cysts. 88.3% of the study subjects with simple cysts underwent needle aspiration and 5 cysts required excision. 3 subjects with simple cysts required aspiration more than once. Two of the three subjects with galactocoele underwent aspiration and one subject developed infection which required antibiotics and excision. Intracystic papillary carcinoma were detected in 21.25% and invasive ductal carcinoma were seen in 20% of the study subjects. CONCLUSION The age group of patients presented with cystic lesions of breasts indicate probable lower awareness regarding self-examination of the breasts after 30 years of age. This is a matter of concern. Breast cysts are usually benign though some radiologically complex masses may be malignant. Another differential diagnosis could be tuberculosis which has to be kept in mind.

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

General anesthetic octanol and related compounds activate wild-type and delF508 cystic fibrosis chloride channels

OpenAIRE

Marcet, Brice; Becq, Frédéric; Norez, Caroline; Delmas, Patrick; Verrier, Bernard

2004-01-01

Cystic fibrosis transmembrane conductance regulator (CFTR) Cl− channel is defective during cystic fibrosis (CF). Activators of the CFTR Cl− channel may be useful for therapy of CF. Here, we demonstrate that a range of general anesthetics like normal-alkanols (n-alkanols) and related compounds can stimulate the Cl− channel activity of wild-type CFTR and delF508-CFTR mutant.The effects of n-alkanols like octanol on CFTR activity were measured by iodide (125I) efflux and patch-clamp techniques o...

MR differentiation of cystic lesions in the maxillomandibular region

International Nuclear Information System (INIS)

Minami, M.; Kaneda, T.; Ozawa, K.; Ozawa, M.; Itaz, Y.; Sasaki, Y.

1991-01-01

This paper examines the capability of MR imaging in differentiating cystic lesions in the maxillomandibular region. MR imaging of 34 patients with cystic lesions in the maxillomandibular region was performed prospectively. After T1-weighted axial imaging, T1-weighted axial and sagittal/coronal imaging with Gd-DTPA and T2-weighted axial imaging was performed. The pathologic examinations of the cases showed 9 ameloblastomas, 13 odontogenic keratocysts, and 11 other types of cysts. MR differentiation between ameloblastoma and cysts was possible in all cases but one. MR images of ameloblastoma showed solid and cystic components, multilocularity, irregularly thickened walls, mural nodules, marked Gd-DTPA enhancement of the wall, and low T1-weighted signal fluids. MR differentiation between various kinds of cysts was difficult without information from conventional radiography, except odontogenic keratocysts. MR images of 17 keratocysts showed cystic patterns, regularly thin walls monolocular cysts, weak Gd-DTPA enhancement of the walls, and inhomogeneous intensity of the contents

Treatment Complexity in Cystic Fibrosis: Trends over Time and Associations with Site-Specific Outcomes

Science.gov (United States)

Sawicki, Gregory S.; Ren, Clement L.; Konstan, Michael W.; Millar, Stefanie J.; Pasta, David J.; Quittner, Alexandra L.

2014-01-01

Background Patients with cystic fibrosis (CF) have increasing treatment complexity and high treatment burden. We describe trends in treatment complexity and evaluate its relationship with health outcomes. Methods Using Epidemiologic Study of Cystic Fibrosis (ESCF) data, we developed a treatment complexity score (TCS) from 37 chronic therapies and assessed change by age group (6–13, 14–17, and 18+ years) over a three year period. Differences in average site TCS were evaluated by quartiles based on FEV1, BMI, or Treatment Burden score on the Cystic Fibrosis Questionnaire-Revised (CFQ-R). Results TCS scores were calculated for 7252 individual patients (42% child, 16% adolescent, 43% adult) across 153 sites. In 2003, mean TCS was 11.1 for children, 11.8 for adolescents, and 12.1 for adults. In all 3 age groups, TCS increased over 3 years; the increase in TCS from 2003–2005 for children was 1.25 (95% CI 1.16–1.34), for adolescents 0.77 (0.62–0.93), and for adults 1.20 (1.08–1.31) (all pbased on FEV1 quartile. Mean TCS was higher in the highest BMI z-score quartile. Across all 3 versions of the CFQ-R, mean TCS was lower at sites in the highest quartiles (lowest burden) for CFQ-R Treatment Burden scores. Conclusion Treatment complexity was highest among adults with CF, although over 3 years, we observed a significant increase in treatment complexity in all age groups. Such increases in treatment complexity pose a challenge to patient self-management and adherence. Future research is needed to understand the associations between treatment complexity and subsequent health outcomes to reduce treatment burden and improve disease management. PMID:23352205

Unusual cystic pancreatic neoplasms -image-pathological correlations

International Nuclear Information System (INIS)

Hilendarov, A.; Simova, E.; Petrova, A.; Traikova, N.; Deenichin, G.

2013-01-01

The aim is to present the variety of signs and symptoms from the diagnostic imaging methods of atypical neoplasms of the pancreas, presented as a type of cystic lesions. This often leads to unnecessary surgery or inappropriate tracking. In 115 patients (85 men and 30 women) with cystic lesions of the pancreas ultrasonic (US),computer tomography (CT) and magnetic resonance imaging (MRI) were performed and verified through histological and macroscopic pathology preparations. The ultrasound machines equipped with linear and convex transducers, MDCT and MRI imaging systems were used. In 14 of 115 patients atypical neoplasms of the pancreas were diagnosed: two cases with macroscopic serous cystic neoplasms, two nonmucinous cystic neoplasms, two hemorrhagic mucinous neoplasms, two ductal adenocarcinomas with cystic changes, one islet cell cystic tumor, two lymphoepithetial cysts, one lymphangioma, one solid papillary epithelial neoplasm and one mucinous adenocarcinoma. The authors take into consideration and overlapping of clinical symptoms and laboratory tests. Although much of the imaging features and morphological characteristics of cystic neoplasms of the pancreas are well known, should be known about the atypical unusual images in so-called 'typical' cystic neoplasms, cystic images in solid neoplasms and various atypical tumors with cystic lesions. (authors)

Opening up of plasmalemma type-1 VDAC to form apoptotic "find me signal" pathways is essential in early apoptosis - evidence from the pathogenesis of cystic fibrosis resulting from failure of apoptotic cell clearance followed by sterile inflammation.

Science.gov (United States)

Thinnes, Friedrich P

2014-04-01

Cell membrane-standing type-1 VDAC is involved in cell volume regulation and thus apoptosis. The channel has been shown to figure as a pathway for osmolytes of varying classes, ATP included. An early event in apoptotic cell death is the release of "find me signals" by cells that enter the apoptotic process. ATP is one of those signals. Apoptotic cells this way attract phagocytes for an immunologically silent cell clearance. Thus, whenever apoptosis fails by a blockade of plasmalemma type-1 VDAC processes of sterile inflammation must be assumed for cell elimination. This is evident from a close look on the pathogenetic process of cystic fibrosis (CF). However, in normal airway epithelia two different anion channels cooperate to guarantee an appropriate volume of airway surface liquid (ASL) necessary for surface clearing: the cystic fibrosis conductance regulator (CFTR) and the outwardly rectifying chloride channel (ORCC) complex also called "alternate chloride channel" and under the control of the CFTR. There are arguments, that type-1 VDAC forms the channel part of the ORCC complex, and it has been shown that CFTR and type-1 VDAC co-localize in the apical membranes of human surface respiratory epithelium. In cystic fibrosis, the central cAMP-dependent regulation of ion and water transport via functional CFTR is lost. Here, CFTR molecules do not reach the apical membranes of airway epithelia anymore or work in an insufficient way, respectively. In addition, type-1 VDAC is no longer available to work as a "find me signal" pathway. In consequence, clearing away of apoptotic cells is blocked. There are experimental data on the channel characteristics of type-1 VDAC under the anion channel blocker DIDS (4,4-diisothiocyanato-stilbenedisulphonic acid) that argue in favor of this hypothesis. Together, type-1 VDAC should be kept as a "find me signal" pathway, which may give way to several classes of such signals. Copyright © 2014 Elsevier Inc. All rights reserved.

Rare association between cystic fibrosis, Chiari I malformation, and hydrocephalus in a baby: a case report and review of the literature

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Jea Andrew

2011-08-01

Full Text Available Abstract Introduction Cystic fibrosis, an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator gene, is not generally associated with malformations of the central nervous system. We review eight previously published reports detailing an infrequent association between cystic fibrosis and Chiari I malformation. Case presentation To the best of our knowledge, our report describes only the ninth case of a baby presenting with a new diagnosis of cystic fibrosis and Chiari I malformation, in this case in a 10-month-old, full-term Caucasian baby boy from the United States of America. Neurosurgical consultation was obtained for associated developmental delay, macrocephaly, bulging anterior fontanel, and papilledema. An MRI scan demonstrated an extensive Chiari I malformation with effacement of the fourth ventricle, obliteration of the outlets of the fourth ventricle and triventricular hydrocephalus without aqueductal stenosis. Our patient was taken to the operating room for ventriculoperitoneal shunt placement. Conclusions It is possible that the cystic fibrosis transmembrane conductance regulator gene may play a previously unrecognized role in central nervous system development; alternatively, this central nervous system abnormality may have been acquired due to constant valsalva from recurrent coughing or wheezing or metabolic and electrolyte imbalances that occur characteristically in cystic fibrosis.

General anesthetic octanol and related compounds activate wild-type and delF508 cystic fibrosis chloride channels.

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Marcet, Brice; Becq, Frédéric; Norez, Caroline; Delmas, Patrick; Verrier, Bernard

2004-03-01

1. Cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel is defective during cystic fibrosis (CF). Activators of the CFTR Cl(-) channel may be useful for therapy of CF. Here, we demonstrate that a range of general anesthetics like normal-alkanols (n-alkanols) and related compounds can stimulate the Cl(-) channel activity of wild-type CFTR and delF508-CFTR mutant. 2. The effects of n-alkanols like octanol on CFTR activity were measured by iodide ((125)I) efflux and patch-clamp techniques on three distinct cellular models: (1). CFTR-expressing Chinese hamster ovary cells, (2). human airway Calu-3 epithelial cells and (3). human airway JME/CF15 epithelial cells which express the delF508-CFTR mutant. 3. Our data show for the first time that n-alkanols activate both wild-type CFTR and delF508-CFTR mutant. Octanol stimulated (125)I efflux in a dose-dependent manner in CFTR-expressing cells (wild-type and delF508) but not in cell lines lacking CFTR. (125)I efflux and Cl(-) currents induced by octanol were blocked by glibenclamide but insensitive to 4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid, as expected for a CFTR Cl(-) current. 4. CFTR activation by octanol was neither due to cell-to-cell uncoupling properties of octanol nor to an intracellular cAMP increase. CFTR activation by octanol requires phosphorylation by protein kinase-A (PKA) since it was prevented by H-89, a PKA inhibitor. 5. n-Alkanols chain length was an important determinant for channel activation, with rank order of potencies: 1-heptanoloctanoloctanol<1-decanol. Our findings may be of valuable interest for developing novel therapeutic strategies for CF.

Mucinous cystic neoplasm of the pancreas in a male patient

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Kazuhiro Yoshida

2011-04-01

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

Genome Sequence of Pseudomonas aeruginosa Strain DK1-NH57388A, a Stable Mucoid Cystic Fibrosis Isolate

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Norman, Anders; Ciofu, Oana; Amador Hierro, Cristina Isabel

2016-01-01

Pseudomonas aeruginosa is an important opportunistic pathogen associated with chronic pulmonary infections and mortality in cystic fibrosis (CF) patients. Here, we present the complete genome sequence of stable mucoid P. aeruginosa strain DK1-NH57388A, a CF isolate which has previously been used...

Inhalable Antimicrobials for Treatment of Bacterial Biofilm-Associated Sinusitis in Cystic Fibrosis Patients

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Klodzinska, Sylvia Natalie; Priemel, Petra Alexandra; Rades, Thomas

2016-01-01

Bacterial biofilm-associated chronic sinusitis in cystic fibrosis (CF) patients caused by Pseudomonas aeruginosa infections and the lack of available treatments for such infections constitute a critical aspect of CF disease management. Currently, inhalation therapies to combat P. aeruginosa infec...... and management of biofilm infections caused by P. aeruginosa and discusses critical issues related to novel antimicrobial drug formulation design approaches.......Bacterial biofilm-associated chronic sinusitis in cystic fibrosis (CF) patients caused by Pseudomonas aeruginosa infections and the lack of available treatments for such infections constitute a critical aspect of CF disease management. Currently, inhalation therapies to combat P. aeruginosa....... aeruginosa from the respiratory tract after a first infection has been shown to delay chronic pulmonary infection with the bacteria for up to two years. The challenges with providing a suitable treatment for bacterial sinusitis include: (i) identifying a suitable antimicrobial compound; (ii) selecting...

Associations of diet and breed with recurrence of calcium oxalate cystic calculi in dogs.

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Allen, Heidi S; Swecker, William S; Becvarova, Iveta; Weeth, Lisa P; Werre, Stephen R

2015-05-15

To evaluate the long-term risk of recurrence of calcium oxalate (CaOx) cystic calculi in dogs of various breeds fed 1 of 2 therapeutic diets. Retrospective cohort study. Animals-135 dogs with a history of CaOx cystic calculi. Medical records for 4 referral hospitals were searched to identify dogs that had had CaOx cystic calculi removed. Owners were contacted and medical records evaluated to obtain information on postoperative diet, recurrence of signs of lower urinary tract disease, and recurrence of cystic calculi. Dogs were grouped on the basis of breed (high-risk breeds, low-risk breeds, and Miniature Schnauzers) and diet fed after removal of cystic calculi (diet A, diet B, and any other diet [diet C], with diets A and B being therapeutic diets formulated to prevent recurrence of CaOx calculi). Breed group was a significant predictor of calculi recurrence (as determined by abdominal radiography or ultrasonography), with Miniature Schnauzers having 3 times the risk of recurrence as did dogs of other breeds. Dogs in diet group A had a lower prevalence of recurrence than did dogs in diet group C, but this difference was not significant in multivariable analysis. Results indicated that Miniature Schnauzers had a higher risk of CaOx cystic calculi recurrence than did dogs of other breeds. In addition, findings suggested that diet may play a role in decreasing recurrence, but future prospective studies are needed to validate these observations.

Hyponatremia-associated rhabdomyolysis following exercise in an adolescent with cystic fibrosis.

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Kaskavage, Jillian; Sklansky, Daniel

2012-07-01

Adolescents with well-controlled cystic fibrosis, including good lung function and appropriate growth, commonly participate in competitive athletic activities. We present the case of an adolescent male with cystic fibrosis, hyponatremia, dehydration, and rhabdomyolysis after participating in football practice on a summer morning. The patient presented with severe myalgia and serum sodium of 129 mmol/L, chloride 90 mmol/L, and creatine phosphokinase 1146 U/L. Aggressive hydration with intravenous 0.9% saline resulted in clinical improvement with no renal or muscular sequelae. Health care providers need to educate patients with cystic fibrosis about maintaining adequate hydration and sodium repletion during exercise. Research is needed regarding the appropriate amount and composition of oral rehydration fluids in exercising individuals with cystic fibrosis, as the physiology encountered in these patients provides a unique challenge to maintaining electrolyte balance and stimulation of thirst.

A pigmented calcifying cystic odontogenic tumor associated with compound odontoma: a case report and review of literature

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Borkosky Silvia S

2007-09-01

Full Text Available Abstract Background Pigmented intraosseous odontogenic lesions are rare with only 47 reported cases in the English literature. Among them, pigmented calcifying cystic odontogenic tumor, formerly known as calcifying odontogenic cyst, is the most common lesion with 20 reported cases. Methods A case of pigmented calcifying cystic odontogenic tumor associated with odontoma occurring at the mandibular canine-premolar region of a young Japanese boy is presented with radiographic, and histological findings. Special staining, electron microscopic study and immunohistochemical staining were also done to characterize the pigmentation. Results The pigments in the lesion were confirmed to be melanin by Masson-Fontana staining and by transmission electron microscopy. The presence of dendritic melanocytes within the lesion was also demonstrated by S-100 immunostaining. Conclusion The present case report of pigmented calcifying cystic odontogenic tumor associated with odontoma features a comprehensive study on melanin and melanocytes, including histochemical, immunohistochemical and transmission electron microscopic findings.

Association between hematological profile and serum 25-hydroxyvitamin D levels and FokI polymorphism in individuals with cystic fibrosis

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Milena Luana Coelho de ASSIS

Full Text Available ABSTRACT Objective The present study aimed at investigating the association between hematological profile and serum 25-hydroxyvitamin D (25[OH]D levels and Fokl polymorphism of the vitamin D receptor gene in individuals with Cystic Fibrosis. Methods A cross-sectional study that involved 18 men and women aged 0-25 years with Cystic Fibrosis. Socio-demographic information and the factors associated with sun exposure were obtained. Weight, height, and arm circumference were also measured. Blood sample was collected for the analysis of biochemical parameters (25[OH]D, parathyroid hormone, and calcium levels and blood count and for the validation of the presence of FokI polymorphism in the vitamin D receptor gene. Results Among the participants, 33.33% (n=6 had vitamin D deficiency (19.60±6.180 ng/mL, and 27.8% (n=5 presented with anemia and low weight for age. In terms of genotype, 5.6% (n=1 presented with the FF genotype, 72.3% (n=13 had the Ff genotype, and 22.2% (n=4 had the ff genotype. Serum 25(OHD levels were associated with hemoglobin (p=0.008 and hematocrit (p=0.019 levels and leukocyte count (p=0.0114. No association was observed between 25(OHD levels and the genotypes (FF, Ff, and ff (p=0.2451. In addition, an association was observed between FokI polymorphism and the total leukocyte count (p=0.01. Conclusion An association was observed between serum 25(OHD levels and hemoglobin and hematocrit levels and leukocyte count in individuals with Cystic Fibrosis. Moreover, FokI polymorphism was associated with total leukocyte count.

Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report

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N. S. Kamakeri

2016-10-01

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

CYSTIC DEGENERATION OF THE DUODENUM ASSOCIATED WITH CHRONIC PANCREATITIS

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A. G. Kriger

2016-01-01

Full Text Available Inflammatory cystic lesion of the descending part of the duodenum, mainly in the field of small duodenal papilla in chronic pancreatitis (CP is described as “duodenal dystrophy” (DD. The pathogenesis of this condition has not been studied and treatment strategy is not defined.Purpose. Investigation of cystic inflammatory transformation of duodenal wall pathogenesis in patients with CP, described as a DD, and evaluate the clinical ef ficiency of surgical treatment.Material and methods. Eighty two patients with DD were retrospectively included over 12 years. The diagnosis of DD was established by transabdominal ultrasound, CT, MRI and endosonography. Initially, all patients were treated conservatively. 74 patients required surgical treatment subsequently after conservative treatment with a median duration of 2 years. 34 patients underwent pancreaticoduodenectomy (PD, 21 patients underwent duodenum resection, 15 – duodenum preserving pancreatic head resection of (DPPHR. 4 patients underwent palliative operations. Diagnosis of CP and DD was verified by histological study of surgical specimens. Not operated patients (8 are under observation. Long-term results of surgical treatment were evaluated in 47 patients with a median follow-up was 49.9 months.Results. Histological examination resulted that in 69.9% of DD was related with groove pancreatitis, with ectopic pancreatic tissue – in 30.1%. DD was associated with CP in 92.6% of cases. Clinical presentation of DD was not related with etiology and showed typical symptoms of CP: abdominal pain occurred in 98.8% of patients, body weight loss – 61.7%, duodenal obstruction – 35.8%, biliary hypertension – 34.1%. The overall morbidity was 35.1%. Overall postoperative mortality was 1.37% (1 patient. 66% of patients had no clinical symptoms postoperatively, a significantimprovement – 32%, no effect – 2%.Conclusion. The most cases of DD is related with groove pancreatitis, less �

Partially Cystic Thyroid Nodules: Ultrasound Findings of Malignancy

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

2012-09-15

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

CT findings in skeletal cystic echinococcosis

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Tuezuen, M.; Hekimoglu, B. [Social Security Hospital, Ankara (Turkey). Dept. of Radiology

2002-09-01

Purpose: To evaluate the CT findings of skeletal cystic echinococcosis. Material and Methods: CT findings of 7 patients with pathologically confirmed skeletal cystic echinococcosis were evaluated. Results: There were 4 men and 3 women, aged 36-75 years. Hydatid cysts were located in the spine (n=2), a rib (n=3), the pelvis and a vertebra (n=1), the pelvis and the left femur (n=1). The size of the lesions varied from 1 cm to 15 cm. CT showed well defined, single or multiple cystic lesions with no contrast enhancement, no calcification, no daughter cysts, and no germinal membrane detachment. The cystic lesion had a honeycomb appearance in 2 cases, there was pathologic fracture in 2 cases, bone expansion in 5 cases, cortical thinning in 6 cases, cortical destruction in 6 cases, bone sclerosis in 1 case, and soft tissue extension in 6 cases. Conclusion: Preoperative differential diagnosis of skeletal cystic lesions should include cystic echinococcosis, especially in endemic areas, since this diagnosis may easily be missed unless kept in mind.

Poly Cystic Ovarian Syndrome: an updated overview

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Samer eEl Hayek

2016-04-01

Full Text Available 1.AbstractPoly Cystic Ovarian Syndrome (PCOS is one of the most common metabolic and reproductive disorders among women of reproductive age. Women suffering from PCOS present with a constellation of symptoms associated with menstrual dysfunction and androgen excess, which significantly impacts their quality of life. They may be at increased risk of multiple morbidities, including obesity, insulin resistance, type II diabetes mellitus, cardiovascular disease, infertility, cancer, and psychological disorders. This review summarizes what the literature has so far provided from guidelines to diagnosis of PCOS. It will also present a general overview about the morbidities associated with this disease, specifically with its more severe classic form. Finally, the review will stress on the various aspects of treatment and screening recommendations currently used in the management of this condition.

Nutritional status is associated with health-related quality of life in children with cystic fibrosis aged 9-19 years.

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Shoff, Suzanne M; Tluczek, Audrey; Laxova, Anita; Farrell, Philip M; Lai, HuiChuan J

2013-12-01

The impact of improved nutritional status on health-related quality of life (HRQOL) is unknown for children with cystic fibrosis (CF). Associations between nutritional status and HRQOL were examined over 2 years in 95 children, aged 9-19 years, who were followed in the Wisconsin Newborn Screening Project. HRQOL was assessed using the Cystic Fibrosis Questionnaire (CFQ). Associations between height z-score (HtZ), BMI z-score (BMIZ) and seven CFQ dimensions were evaluated. Mean values of at least 80 were observed for all CFQ dimensions except respiratory symptoms and treatment burden. Treatment burden was significantly worse in patients with meconium ileus (57) compared to pancreatic insufficient (65) and sufficient (78) subjects, pnutritional status was associated with increased HRQOL scores. Early diagnosis through newborn screening and improved nutrition provides an opportunity to enhance quality of life and body image perception. Copyright © 2013 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Factors associated with worse lung function in cystic fibrosis patients with persistent staphylococcus aureus

NARCIS (Netherlands)

Junge, S. (Sibylle); Görlich, D. (Dennis); Reijer, M.D. (Martijn Den); B. Wiedemann (Baerbel); B. Tümmler (Burkhard); H. Ellemunter; Dübbers, A. (Angelika); Küster, P. (Peter); M. Ballmann; Koerner-Rettberg, C. (Cordula); Große-Onnebrink, J. (Jörg); Heuer, E. (Eberhardt); Sextro, W. (Wolfgang); Mainz, J.G. (Jochen G.); Hammermann, J. (Jutta); Riethmüller, J. (Joachim); Graepler-Mainka, U.M. (Ute M.); Staab, D. (Doris); Wollschläger, B. (Bettina); Szczepanski, R. (Rüdiger); A. Schuster (Antje); Tegtmeyer, F.-K. (Friedrich-Karl); Sutharsan, S. (Sivagurunathan); Wald, A. (Alexandra); Nofer, J.-R. (Jerzy-Roch); W.J.B. van Wamel (Willem); Becker, K. (Karsten); Peters, G. (Georg); Kahl, B.C. (Barbara C.)

2016-01-01

textabstractBackground Staphylococcus aureus is an important pathogen in cystic fibrosis (CF). However, it is not clear which factors are associated with worse lung function in patients with persistent S. aureus airway cultures. Our main hypothesis was that patients with high S. aureus density in

Nutrition Status Parameters and Hydration Status by Bioelectrical Impedance Vector Analysis Were Associated With Lung Function Impairment in Children and Adolescents With Cystic Fibrosis.

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Hauschild, Daniela Barbieri; Barbosa, Eliana; Moreira, Emilia Addison Machado; Ludwig Neto, Norberto; Platt, Vanessa Borges; Piacentini Filho, Eduardo; Wazlawik, Elisabeth; Moreno, Yara Maria Franco

2016-06-01

(1) To compare nutrition and hydration status between a group of children/adolescents with cystic fibrosis (CFG; n = 46; median age, 8.5 years) and a control group without cystic fibrosis (CG). (2) To examine the association of nutrition and hydration status with lung function in the CFG. A cross-sectional study. Nutrition screening, anthropometric parameters, and bioelectrical impedance analysis (BIA) were assessed. The z scores for body mass index for age, height for age, mid upper arm circumference, triceps and subscapular skinfold thickness, mid upper arm muscle area, resistance/height, and reactance/height were calculated. Bioelectrical impedance vector analysis was conducted. Forced expiratory volume in 1 second hydration status were associated with lung function. © 2016 American Society for Parenteral and Enteral Nutrition.

The immune response to chronic Pseudomonas aeruginosa lung infection in cystic fibrosis patients is predominantly of the Th2 type

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Moser, C; Kjaergaard, S; Pressler, T

2000-01-01

Most cystic fibrosis (CF) patients with chronic Pseudomonas aeruginosa lung infection have a persistent acute type lung inflammation dominated by polymorphonuclear neutrophils (PMN) and a pronounced antibody response against P. aeruginosa. We speculated whether this immune response in CF...... is of the Th2 type and whether a change to a Th1 type immune response could improve the prognosis. Therefore, we studied 14 CF patients with (CF +P) and 14 CF patients without (CF -P) chronic P. aeruginosa lung infection. The specific production of interferon-gamma (IFN-gamma) and interleukin-4 (IL-4......: Rho=0.524; ptype immune response is most frequent in CF patients with chronic P. aeruginosa lung infection, and the patients with a Th1-dominated immune response had the best lung function. The clinical implication is that a change to a Th1 type immune response might...

The lower airway microbiota in early cystic fibrosis lung disease: a longitudinal analysis.

Science.gov (United States)

Frayman, Katherine B; Armstrong, David S; Carzino, Rosemary; Ferkol, Thomas W; Grimwood, Keith; Storch, Gregory A; Teo, Shu Mei; Wylie, Kristine M; Ranganathan, Sarath C

2017-12-01

In infants and young children with cystic fibrosis, lower airway infection and inflammation are associated with adverse respiratory outcomes. However, the role of lower airway microbiota in the pathogenesis of early cystic fibrosis lung disease remains uncertain. To assess the development of the lower airway microbiota over time in infants and young children with cystic fibrosis, and to explore its association with airway inflammation and pulmonary function at age 6 years. Serial, semi-annual bronchoscopies and bronchoalveolar lavage (BAL) procedures were performed in infants newly diagnosed with cystic fibrosis following newborn screening. Quantitative microbiological cultures and inflammatory marker (interleukin 8 and neutrophil elastase) measurements were undertaken contemporaneously. 16S ribosomal RNA gene sequencing was conducted on stored BAL samples. Spirometry results recorded at 6 years of age were extracted from medical records. Ninety-five BAL samples provided 16S ribosomal RNA gene data. These were collected from 48 subjects aged 1.2-78.3 months, including longitudinal samples from 27 subjects and 13 before age 6 months. The lower airway microbiota varied, but diversity decreased with advancing age. Detection of recognised cystic fibrosis bacterial pathogens was associated with reduced microbial diversity and greater lower airway inflammation. There was no association between the lower airway microbiota and pulmonary function at age 6 years. In infants with cystic fibrosis, the lower airway microbiota is dynamic. Dominance of the microbiota by recognised cystic fibrosis bacterial pathogens is associated with increased lower airway inflammation, however early microbial diversity is not associated with pulmonary function at 6 years of age. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Association of body mass index with disease severity and prognosis in patients with non-cystic fibrosis bronchiectasis

International Nuclear Information System (INIS)

Qi, Q.; Li, T.; Li, J.C.; Li, Y.

2015-01-01

The objective of this observational, multicenter study was to evaluate the association of body mass index (BMI) with disease severity and prognosis in patients with non-cystic fibrosis bronchiectasis. A total of 339 patients (197 females, 142 males) diagnosed with non-cystic fibrosis bronchiectasis by high-resolution computed tomography were classified into four groups: underweight (BMI<18.5 kg/m 2 ), normal weight (18.5≤BMI<25.0 kg/m 2 ), overweight (25.0≤BMI<30.0 kg/m 2 ), and obese (BMI≥30.0 kg/m 2 ). Clinical variables expressing disease severity were recorded, and acute exacerbations, hospitalizations, and survival rates were estimated during the follow-up period. The mean BMI was 21.90 kg/m 2 . The underweight group comprised 28.61% of all patients. BMI was negatively correlated with acute exacerbations, C-reactive protein, erythrocyte sedimentation rate, radiographic extent of bronchiectasis, and chronic colonization by P. aeruginosa and positively correlated with pulmonary function indices. BMI was a significant predictor of hospitalization risk independent of relevant covariates. The 1-, 2-, 3-, and 4-year cumulative survival rates were 94%, 86%, 81%, and 73%, respectively. Survival rates decreased with decreasing BMI (χ 2 =35.16, P<0.001). The arterial carbon dioxide partial pressure, inspiratory capacity, age, BMI, and predicted percentage of forced expiratory volume in 1 s independently predicted survival in the Cox proportional hazard model. In conclusion, an underweight status was highly prevalent among patients with non-cystic fibrosis bronchiectasis. Patients with a lower BMI were prone to developing more acute exacerbations, worse pulmonary function, amplified systemic inflammation, and chronic colonization by P. aeruginosa. BMI was a major determinant of hospitalization and death risks. BMI should be considered in the routine assessment of patients with non-cystic fibrosis bronchiectasis

Association of body mass index with disease severity and prognosis in patients with non-cystic fibrosis bronchiectasis

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Qi, Q.; Li, T. [Department of Respirology, Qilu Hospital of Shandong University, Jinan, Shandong Province (China); Li, J.C. [Neurosurgical Intensive Care Unit, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong Province (China); Li, Y. [Department of Respirology, Qilu Hospital of Shandong University, Jinan, Shandong Province (China)

2015-07-10

The objective of this observational, multicenter study was to evaluate the association of body mass index (BMI) with disease severity and prognosis in patients with non-cystic fibrosis bronchiectasis. A total of 339 patients (197 females, 142 males) diagnosed with non-cystic fibrosis bronchiectasis by high-resolution computed tomography were classified into four groups: underweight (BMI<18.5 kg/m{sup 2}), normal weight (18.5≤BMI<25.0 kg/m{sup 2}), overweight (25.0≤BMI<30.0 kg/m{sup 2}), and obese (BMI≥30.0 kg/m{sup 2}). Clinical variables expressing disease severity were recorded, and acute exacerbations, hospitalizations, and survival rates were estimated during the follow-up period. The mean BMI was 21.90 kg/m{sup 2}. The underweight group comprised 28.61% of all patients. BMI was negatively correlated with acute exacerbations, C-reactive protein, erythrocyte sedimentation rate, radiographic extent of bronchiectasis, and chronic colonization by P. aeruginosa and positively correlated with pulmonary function indices. BMI was a significant predictor of hospitalization risk independent of relevant covariates. The 1-, 2-, 3-, and 4-year cumulative survival rates were 94%, 86%, 81%, and 73%, respectively. Survival rates decreased with decreasing BMI (χ{sup 2}=35.16, P<0.001). The arterial carbon dioxide partial pressure, inspiratory capacity, age, BMI, and predicted percentage of forced expiratory volume in 1 s independently predicted survival in the Cox proportional hazard model. In conclusion, an underweight status was highly prevalent among patients with non-cystic fibrosis bronchiectasis. Patients with a lower BMI were prone to developing more acute exacerbations, worse pulmonary function, amplified systemic inflammation, and chronic colonization by P. aeruginosa. BMI was a major determinant of hospitalization and death risks. BMI should be considered in the routine assessment of patients with non-cystic fibrosis bronchiectasis.

Association of body mass index with disease severity and prognosis in patients with non-cystic fibrosis bronchiectasis

Directory of Open Access Journals (Sweden)

Q. Qi

2015-08-01

Full Text Available The objective of this observational, multicenter study was to evaluate the association of body mass index (BMI with disease severity and prognosis in patients with non-cystic fibrosis bronchiectasis. A total of 339 patients (197 females, 142 males diagnosed with non-cystic fibrosis bronchiectasis by high-resolution computed tomography were classified into four groups: underweight (BMI<18.5 kg/m2, normal weight (18.5≤BMI<25.0 kg/m2, overweight (25.0≤BMI<30.0 kg/m2, and obese (BMI≥30.0 kg/m2. Clinical variables expressing disease severity were recorded, and acute exacerbations, hospitalizations, and survival rates were estimated during the follow-up period. The mean BMI was 21.90 kg/m2. The underweight group comprised 28.61% of all patients. BMI was negatively correlated with acute exacerbations, C-reactive protein, erythrocyte sedimentation rate, radiographic extent of bronchiectasis, and chronic colonization by P. aeruginosa and positively correlated with pulmonary function indices. BMI was a significant predictor of hospitalization risk independent of relevant covariates. The 1-, 2-, 3-, and 4-year cumulative survival rates were 94%, 86%, 81%, and 73%, respectively. Survival rates decreased with decreasing BMI (χ2=35.16, P<0.001. The arterial carbon dioxide partial pressure, inspiratory capacity, age, BMI, and predicted percentage of forced expiratory volume in 1 s independently predicted survival in the Cox proportional hazard model. In conclusion, an underweight status was highly prevalent among patients with non-cystic fibrosis bronchiectasis. Patients with a lower BMI were prone to developing more acute exacerbations, worse pulmonary function, amplified systemic inflammation, and chronic colonization by P. aeruginosa. BMI was a major determinant of hospitalization and death risks. BMI should be considered in the routine assessment of patients with non-cystic fibrosis bronchiectasis.

Genome Sequence of Pseudomonas aeruginosa Strain DK1-NH57388A, a Stable Mucoid Cystic Fibrosis Isolate

DEFF Research Database (Denmark)

Norman, Anders; Ciofu, Oana; Amador Hierro, Cristina Isabel

2016-01-01

Pseudomonas aeruginosa is an important opportunistic pathogen associated with chronic pulmonary infections and mortality in cystic fibrosis (CF) patients. Here, we present the complete genome sequence of stable mucoid P. aeruginosa strain DK1-NH57388A, a CF isolate which has previously been used ...

Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung

International Nuclear Information System (INIS)

Restrepo, S.; Villamil, M.A.; Rojas, I.C.; Lemos, D.F.; Echeverri, S.; Angarita, M.; Triana, G.

2004-01-01

Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

Dentigerous Cystic Changes in the Follicles Associated with Radiographically Normal Impacted Mandibular Third Molars

Directory of Open Access Journals (Sweden)

Ashok Dongol

2018-01-01

Full Text Available Objective. To assess the incidence of dentigerous cystic changes in the follicles of radiographically normal impacted mandibular third molars. Methods. One hundred and thirteen follicles obtained after surgical removal of impacted mandibular third molars with radiolucency of less than 2.5 mm in the radiograph were sent for histopathologic evaluation to evaluate pathologic changes. Results. The incidence of dentigerous cystic changes observed was 15.9%, that is, 18 out of 113 patients (51 males and 62 females, with the maximum incidence of cystic changes seen in the follicular space size of 0.5 mm. The mean age of the patients included was 27.8 ± 8.1. The most common indication for extraction among the patients in this study was recurrent pericoronitis (95%. There were no statistically significant differences in occurrence of cystic changes based on age, gender, angulation, relation to ramus, depth, side of impaction, and follicle size (P>0.05. Conclusion. Dental follicles obtained from surgically removed impacted mandibular third molars should be submitted for histopathologic examination irrespective of the radiographic size of the follicle.

Ovarian cystic teratoma containing balls of fat. A case report

International Nuclear Information System (INIS)

Salinas, A.; Rebolledo, M.; Escribano, M.; Alejo, J. P.; Morenom, J.

1998-01-01

We present the case of a ovarian cystic teratoma characterized predominantly by the mobile balls floating in the intra cystic fluid. Ultrasonography demonstrated their marked echo reflectivity and computed tomography revealed that they had the density of fat. We establish a relationship among the ultrasound, computed tomography and histological findings in this uncommon type of ovarian cystic teratoma. (Author) 6 refs

CT Scanning in Identification of Sheep Cystic Echinococcosis.

Science.gov (United States)

Mao, Rui; Qi, Hongzhi; Pei, Lei; Hao, Jie; Dong, Jian; Jiang, Tao; Ainiwaer, Abudula; Shang, Ge; Xu, Lin; Shou, Xi; Zhang, Songan; Wu, Ge; Lu, Pengfei; Bao, Yongxing; Li, Haitao

2017-01-01

We aim to determine the efficiency of CT in identification of cystic echinococcosis in sheep. Fifty-three sheep with liver cysts confirmed by ultrasonography were subject to CT scan to evaluate the number, size, and type of the cysts in liver and lung, confirmed using necropsy. The correlation of numbers between liver cysts and lung cysts was calculated using Pearson analysis. Necropsy indicated a 98% consensus on size, location, number, and activity compared with CT scan. The viable cysts were 53.1% and 50.6% in the liver and lung, respectively. Among the cysts in liver, 35.5%, 9.5%, 5.7%, 10.2%, and 39.1% were Types CE1, CE2, CE3, CE4, and CE5, respectively. The cysts in the lungs, 17.4%, 26.9%, 12.1%, 11.6%, and 32.1%, were Types CE1, CE2, CE3, CE4, and CE5, respectively. A significant correlation was noticed between the number of cysts in liver and those in lung ( R = 0.770, P < 0.001). CT scan is a suitable tool in determining the size and type of cystic hydatid cysts in both liver and lung of sheep. A significant correlation was noticed between the numbers in liver and lung, indicating that lung infection was likely due to the expansion of liver cyst burden pressure.

Stereotactic intracavitary brachytherapy with P-32 for cystic craniopharyngiomas in children

International Nuclear Information System (INIS)

Maarouf, Mohammad; El Majdoub, Faycal; Fuetsch, Manuel; Hoevels, Mauritius; Lehrke, Ralph; Berthold, Frank; Voges, Juergen; Sturm, Volker

2016-01-01

Although microsurgery remains the first-line treatment, gross total resection of cystic craniopharyngeomas (CP) is associated with significant morbidity and mortality and the addition of external irradiation to subtotal resection proves to achieve similar tumor control. However, concern regarding long-term morbidity associated with external irradiation in children still remains. With this retrospective analysis, the authors emphasize intracavitary brachytherapy using phosphorus-32 (P-32) as a treatment option for children with cystic CP. Between 1992 and 2009, 17 children (median age 15.4 years; range 7-18 years) with cystic CP underwent intracavitary brachytherapy using P-32. Eleven patients were treated for recurrent tumor cysts; 6 patients were treated primarily. MR imaging revealed solitary cysts in 7 patients; 10 patients had mixed solid-cystic lesions (median tumor volume 11.1 ml; range 0.5-78.9 ml). The median follow-up time was 61.9 months (range 16.9-196.6 months). Local cyst control could be achieved in 14 patients (82 %). Three patients showed progression of the treated cystic formation (in-field progression) after a median time of 8.3 months (range 5.3-10.3 months), which led to subsequent interventions. The development of new, defined cysts and progression of solid tumor parts (out-of-field progression) occurred in 5 patients and led to additional interventions in 4 cases. There was neither surgery-related permanent morbidity nor mortality in this study. The overall progression-free survival was 75, 63, and 52 % after 1, 3, and 5 years, respectively. Intracavitary brachytherapy using P-32 represents a safe and effective treatment option for children harboring cystic CP, even as primary treatment. However, P-32 does not clearly affect growth of solid tumor parts or the development of new cystic formations. (orig.) [de

Chronic Pancreatitis Associated with the p.G208A Variant of PRSS1 Gene in a European Patient

OpenAIRE

Eszter Hegyi; Iveta Cierna; Ludmila Vavrova; Denisa Ilencikova; Michal Konecny; Laszlo Kovacs

2014-01-01

Context The major etiologic factor of chronic pancreatitis in adults is excessive alcohol consumption, whereas among Children structural anomalies, systemic and metabolic disorders, and genetic factors are prevalent. Mutations in the cationic trypsinogen gene (PRSS1) cause hereditary pancreatitis, while mutations in serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR) and chymotrypsin C (CTRC) genes have been shown to associate with chron...

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.

Science.gov (United States)

Blue, Elizabeth; Louie, Tin L; Chong, Jessica X; Hebbring, Scott J; Barnes, Kathleen C; Rafaels, Nicholas M; Knowles, Michael R; Gibson, Ronald L; Bamshad, Michael J; Emond, Mary J

2018-04-01

Cystic fibrosis, like primary ciliary dyskinesia, is an autosomal recessive disorder characterized by abnormal mucociliary clearance and obstructive lung disease. We hypothesized that genes underlying the development or function of cilia may modify lung disease severity in persons with cystic fibrosis. To test this hypothesis, we compared variants in 93 candidate genes in both upper and lower tertiles of lung function in a large cohort of children and adults with cystic fibrosis with those of a population control dataset. Variants within candidate genes were tested for association using the SKAT-O test, comparing cystic fibrosis cases defined by poor (n = 127) or preserved (n = 127) lung function with population controls (n = 3,269 or 3,148, respectively). Associated variants were then tested for association with related phenotypes in independent datasets. Variants in DNAH14 and DNAAF3 were associated with poor lung function in cystic fibrosis, whereas variants in DNAH14 and DNAH6 were associated with preserved lung function in cystic fibrosis. Associations between DNAH14 and lung function were replicated in disease-related phenotypes characterized by obstructive lung disease in adults. Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis.

Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.

Science.gov (United States)

de Boer, Ynto S; van Gerven, Nicole M F; Zwiers, Antonie; Verwer, Bart J; van Hoek, Bart; van Erpecum, Karel J; Beuers, Ulrich; van Buuren, Henk R; Drenth, Joost P H; den Ouden, Jannie W; Verdonk, Robert C; Koek, Ger H; Brouwer, Johannes T; Guichelaar, Maureen M J; Vrolijk, Jan M; Kraal, Georg; Mulder, Chris J J; van Nieuwkerk, Carin M J; Fischer, Janett; Berg, Thomas; Stickel, Felix; Sarrazin, Christoph; Schramm, Christoph; Lohse, Ansgar W; Weiler-Normann, Christina; Lerch, Markus M; Nauck, Matthias; Völzke, Henry; Homuth, Georg; Bloemena, Elisabeth; Verspaget, Hein W; Kumar, Vinod; Zhernakova, Alexandra; Wijmenga, Cisca; Franke, Lude; Bouma, Gerd

2014-08-01

Autoimmune hepatitis (AIH) is an uncommon autoimmune liver disease of unknown etiology. We used a genome-wide approach to identify genetic variants that predispose individuals to AIH. We performed a genome-wide association study of 649 adults in The Netherlands with AIH type 1 and 13,436 controls. Initial associations were further analyzed in an independent replication panel comprising 451 patients with AIH type 1 in Germany and 4103 controls. We also performed an association analysis in the discovery cohort using imputed genotypes of the major histocompatibility complex region. We associated AIH with a variant in the major histocompatibility complex region at rs2187668 (P = 1.5 × 10(-78)). Analysis of this variant in the discovery cohort identified HLA-DRB1*0301 (P = 5.3 × 10(-49)) as a primary susceptibility genotype and HLA-DRB1*0401 (P = 2.8 × 10(-18)) as a secondary susceptibility genotype. We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). In addition, strong inflation of association signal was found with single-nucleotide polymorphisms associated with other immune-mediated diseases, including primary sclerosing cholangitis and primary biliary cirrhosis, but not with single-nucleotide polymorphisms associated with other genetic traits. In a genome-wide association study, we associated AIH type 1 with variants in the major histocompatibility complex region, and identified variants of SH2B3and CARD10 as likely risk factors. These findings support a complex genetic basis for AIH pathogenesis and indicate that part of the genetic susceptibility overlaps with that for other immune-mediated liver diseases. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

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

International Nuclear Information System (INIS)

Buerke, B.; Domagk, D.; Heindel, W.; Wessling, J.

2012-01-01

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

No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

NARCIS (Netherlands)

Nell, Sjoerd; van Leeuwaarde, Rachel S.; Pieterman, Carolina R. C.; de Laat, Joanne M.; Hermus, Ad R.; Dekkers, Olaf M.; de Herder, Wouter W.; van der Horst-Schrivers, Anouk N.; Drent, Madeleine L.; Bisschop, Peter H.; Havekes, Bas; Borel Rinkes, Inne H. M.; Vriens, Menno R.; Valk, Gerlof D.

2015-01-01

An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore, blood

No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

NARCIS (Netherlands)

Nell, S.; Leeuwaarde, R.S. van; Pieterman, C.R.; Laat, J.M. de; Hermus, A.R.M.M.; Dekkers, O.M.; Herder, W.W. de; Horst-Schrivers, A.N. van der; Drent, M.L.; Bisschop, P.H.; Havekes, B.; Rinkes, I.H.; Vriens, M.R.; Valk, G.D.

2015-01-01

CONTEXT: An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore,

No Association of Blood Type O With Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1

NARCIS (Netherlands)

Nell, Sjoerd; Van Leeuwaarde, Rachel S.; Pieterman, Carolina R. C.; de Laat, Joanne M.; Hermus, Ad R.; Dekkers, Olaf M.; de Herder, Wouter W.; van der Horst-Schrivers, Anouk N.; Drent, Madeleine L.; Bisschop, Peter H.; Havekes, Bas; Rinkes, Inne H. M. Borel; Vriens, Menno R.; Valk, Gerlof D.

2015-01-01

Context: An association between ABO blood type and the development of cancer, in particular, pancreatic cancer, has been reported in the literature. An association between blood type O and neuroendocrine tumors in multiple endocrine neoplasia type 1 (MEN1) patients was recently suggested. Therefore,

Cystic medulloblastoma

International Nuclear Information System (INIS)

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

1989-01-01

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

Physical exercise training for cystic fibrosis.

Science.gov (United States)

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

2017-11-01

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

Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis.

Science.gov (United States)

Furlan, Larissa Lazzarini; Ribeiro, José Dirceu; Bertuzzo, Carmen Sílvia; Salomão Junior, João Batista; Souza, Dorotéia Rossi Silva; Marson, Fernando Augusto Lima

Interleukin 8 protein promotes inflammatory responses, even in airways. The presence of interleukin 8 gene variants causes altered inflammatory responses and possibly varied responses to inhaled bronchodilators. Thus, this study analyzed the interleukin 8 variants (rs4073, rs2227306, and rs2227307) and their association with the response to inhaled bronchodilators in cystic fibrosis patients. Analysis of interleukin 8 gene variants was performed by restriction fragment length polymorphism of polymerase chain reaction. The association between spirometry markers and the response to inhaled bronchodilators was evaluated by Mann-Whitney and Kruskal-Wallis tests. The analysis included all cystic fibrosis patients, and subsequently patients with two mutations in the cystic fibrosis transmembrane conductance regulator gene belonging to classes I to III. This study included 186 cystic fibrosis patients. There was no association of the rs2227307 variant with the response to inhaled bronchodilators. The rs2227306 variant was associated with FEF 50% in the dominant group and in the group with two identified mutations in the cystic fibrosis transmembrane conductance regulator gene. The rs4073 variant was associated with spirometry markers in four genetic models: co-dominant (FEF 25-75% and FEF 75% ), dominant (FEV 1 , FEF 50% , FEF 75% , and FEF 25-75% ), recessive (FEF 75% and FEF 25-75% ), and over-dominant (FEV 1 /FVC). This study highlighted the importance of the rs4073 variant of the interleukin 8 gene, regarding response to inhaled bronchodilators, and of the assessment of mutations in the cystic fibrosis transmembrane conductance regulator gene. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Cystic change in pulmonary tuberculosis in an immunocompetent adult: a case report

International Nuclear Information System (INIS)

Ko, Sung Min; Seo, Soo Ji; Choi, Won Il; Jeon, Young June

2008-01-01

Cystic change associated with pulmonary tuberculosis is rarely encountered, and few reports are available on the radiologic findings of pulmonary tuberculosis presenting as multiple cystic lesions associated with consolidation or bronchohematogenous nodules. The cystic lesions in our pulmonary tuberculosis patient occurred during steroid treatment without antituberculous chemotherapy and progressively increased in size, but subsequently became smaller after the initiation of antituberculous chemotherapy. Herein, we report the chest radiographic and computed tomographic findings of cystic change in pulmonary tuberculosis in an immunocompetent adult

Cystic Odontoma in a Patient with Hodgkin’s Lymphoma

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Victor Costa

2015-01-01

Full Text Available Cystic odontoma is a rare entity, which is characterized by the association of a cyst with complex/compound odontoma. The aim of this study was to report the case of a 5-year-old male patient diagnosed previously with Hodgkin’s lymphoma and treated successfully with chemotherapy and radiotherapy, who developed a mandibular odontogenic lesion. Physical examination revealed a swelling on the right side of the mandible. Radiographically, a well-defined radiolucent area surrounded by radiopaque material was observed. An incisional biopsy was performed and microscopic analysis showed a cystic lesion consisting of an atrophic epithelium comprising 2-3 cell layers and the absence of inflammation in the cystic capsule. The cyst was decompressed and the lesion was removed after 3 months of follow-up. Microscopic analysis of the surgical specimen showed a cystic hyperplastic epithelium surrounded by an intense chronic inflammatory cell infiltrate, which was in close contact with mineralized tissue resembling dentin and cementum. The final diagnosis was cystic odontoma. Since chemotherapy can affect the growth and development of infant teeth, a relationship between chemotherapy-associated adverse events and cystic odontoma is suggested in the present case.

Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

LENUS (Irish Health Repository)

Collins, Anne M

2012-02-01

Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

Dental caries-associated risk factors and type 1 diabetes mellitus.

Science.gov (United States)

Sampaio, Norma; Mello, Sandra; Alves, Cresio

2011-01-01

Type 1 diabetes mellitus (T1DM) is associated with various oral complications. However there is no consensus regarding the association of T1DM and caries. Critical revision of dental caries-associated risk factors and type 1 diabetes mellitus. Search of the MEDLINE and LILACS databases from 2000 to 2010, using, in different combination, the key words "dental caries", "diabetes mellitus" and "type 1 diabetes mellitus". The association between T1DM and dental caries remains controversial. Although some studies demonstrate a higher prevalence of caries due to the increased concentration of salivary glucose, acidity of the oral cavity, salivary viscosity, reduced salivary flow rate, and salivary gland dysfunction; other studies report a reduction of caries levels, probably caused by decreased ucrose ingestion. Although patients with uncontrolled T1DM and poor oral hygiene may present increased prevalence of dental caries, the literature does not describe a consistent relationship between T1DM and dental caries. Further investigations are warranted. If a true association is substantiated, intervention studies to prevent or reduce the occurrence of caries in this population should follow.

MHC-DQB1 Variation and Its Association with Resistance or Susceptibility to Cystic Echinococcosis in Chinese Merino Sheep

Directory of Open Access Journals (Sweden)

Wenqiao Hui

2012-12-01

Full Text Available Cystic echinococcosis (CE, one of the world’s most geographically widespread diseases, still represents a considerable economic and public health significance, although a variety of methods has been used to control the disease. It has been demonstrated that genetic factors, especially variations in MHC loci, can influence the outcome of CE infection in the human population. The study described here was designed to determine whether variation in MHC-DQB1 was associated with susceptibility or resistance to CE in sheep. If so, it would lay a theoretical foundation for breeding disease resistance sheep in future. This study was carried out on 204 Chinese Merino sheep, including 101 CE sheep and 103 healthy controls. The polymorphism of MHC-DQB1 exon 2 was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP method, and x2 test was used to compare genotype frequencies between CE sheep and healthy controls. A total of 22 alleles and 42 genotypes were identified in DQB1 exon 2 in Chinese Merino sheep. In addition, x2 test showed that frequencies of DQB1-TaqIaa and DQB1-HaeIIInn genotypes were significantly higher in the healthy group (82.5% and 57.3%, respectively than that in the CE group (57.4% and 28.9%, respectively (both p values = 0, OR = 0.286, 0.303, respectively, suggesting that these genotypes appeared to be associated with resistance to CE. Whereas, frequencies of DQB1-TaqIab and DQB1-HaeIIImn genotypes were significantly higher in the CE group (36.9% and 32.0%, respectively, as compared with the healthy group (16.5% and 11.15%, respectively (p = 0.001, 0.001 and OR = 2.963, 3.629, respectively, indicating that these genotypes might be associated with susceptibility to CE. It is concluded that the genetic polymorphism within MHC-DQB1 might influence immune responses to pathogens, thus leading to the development of CE or protection against CE in Chinese Merino sheep, which would pave the way for breeding

Multiple-Breath Washout Outcomes Are Sensitive to Inflammation and Infection in Children with Cystic Fibrosis.

Science.gov (United States)

Ramsey, Kathryn A; Foong, Rachel E; Grdosic, Jasmine; Harper, Alana; Skoric, Billy; Clem, Charles; Davis, Miriam; Turkovic, Lidija; Stick, Stephen M; Davis, Stephanie D; Ranganathan, Sarath C; Hall, Graham L

2017-09-01

The lung clearance index is a measure of ventilation distribution derived from the multiple-breath washout technique. The lung clearance index is increased in the presence of lower respiratory tract inflammation and infection in infants with cystic fibrosis; however, the associations during the preschool years are unknown. We assessed the ability of the lung clearance index to detect the presence and extent of lower respiratory tract inflammation and infection in preschool children with cystic fibrosis. Ventilation distribution outcomes were assessed at 82 visits with 58 children with cystic fibrosis and at 38 visits with 31 healthy children aged 3-6 years. Children with cystic fibrosis also underwent bronchoalveolar lavage fluid collection for detection of lower respiratory tract inflammation and infection. Associations between multiple-breath washout indices and the presence and extent of airway inflammation and infection were assessed using linear mixed effects models. Lung clearance index was elevated in children with cystic fibrosis (mean [SD], 8.00 [1.45]) compared with healthy control subjects (6.67 [0.56]). In cystic fibrosis, the lung clearance index was elevated in individuals with lower respiratory tract infections (difference compared with uninfected [95% confidence interval], 0.62 [0.06, 1.18]) and correlated with the extent of airway inflammation. These data suggest that the lung clearance index may be a useful surveillance tool for monitoring the presence and extent of lower airway inflammation and infection in preschool children with cystic fibrosis.

Concurrent Multilocular Cystic Renal Cell Carcinoma and Leiomyoma in the Same Kidney: Previously Unreported Association

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Min Su Cheong

2010-07-01

Full Text Available We present an unusual case of concurrent occurrence of a multilocular cystic renal cell carcinoma and a leiomyoma in the same kidney of a patient with no evident clinical symptoms. A 38-year-old man was found incidentally to have a cystic right renal mass on computed tomography. Laparoscopic radical nephrectomy was performed under a preoperative diagnosis of cystic renal cell carcinoma. Histology revealed a multilocular cystic renal cell carcinoma and a leiomyoma. This is the first report of this kind of presentation.

Cystic fibrosis-related diabetes: a distinct condition.

Science.gov (United States)

Cano Megías, Marta; González Albarrán, Olga

2015-01-01

Cystic fibrosis is the most common fatal inherited autosomal recessive disease in Caucasians, affecting approximately one out of every 2,000 births. Survival of patients with cystic fibrosis has significantly improved due to advances in respiratory and nutritional care, and their current average life expectancy is 30-40 years. Development of cystic fibrosis-related diabetes is a comorbidity that increases with age and may reach a prevalence up to 50% in adults. Its development is associated to impaired lung function and nutritional status, and early diagnosis and treatment are therefore essential to improve quality of life and performance status. Insulin therapy for diabetes and other early carbohydrate metabolism disorders may improve lung function and nutritional status of patients with cystic fibrosis. Copyright © 2014 SEEN. Published by Elsevier Espana. All rights reserved.

Statins are independently associated with increased HbA1c in type 1 diabetes

DEFF Research Database (Denmark)

Jensen, Magnus Thorsten; Andersen, Henrik Ullits; Rossing, Peter

2016-01-01

AIMS: Statin use has been associated with increased risk of developing type 2 diabetes (T2DM), and with impaired glycemic control in T2DM patients. The association between statin use and glycemic control in type 1 diabetes (T1DM) is unknown. The association between use of statins and glycemic con...

Recurrent spontaneous hip dislocation in a patient with neurofibromatosis type 1: a case report

Directory of Open Access Journals (Sweden)

Harty James A

2011-03-01

Full Text Available Abstract Introduction Neurofibromatosis type-1 is a common genetic disorder which often affects the skeleton. Skeletal manifestations of neurofibromatosis type-1 include scoliosis, congenital pseudarthrosis of the tibia and intraosseous cystic lesions. Dislocation of the hip associated with neurofibromatosis type-1 is a rare occurrence and is underreported in the literature. Case presentation We report a case of hip dislocation resulting from an intra-articular neurofibroma in an 18-year-old Caucasian woman following minor trauma. This was originally suggested by the abnormalities on early radiographs of her pelvis and later confirmed with computed tomography and magnetic resonance imaging. Treatment was successful with skeletal traction for six weeks with no further hip dislocations at a 12-year follow-up. Conclusion This case illustrates the radiological features of this rare complication of neurofibromatosis type-1 using the modalities of plain radiograph, magnetic resonance imaging and computed tomography reconstruction. The radiological images give a clear insight into the mechanism by which neurofibromatosis type-1 leads to hip dislocation. It also demonstrates one treatment option with excellent results on long-term follow-up.

Prevalence regarding the type of periapical pathology in 102 human teeth extracted with associated periapical lesion

OpenAIRE

Vier, Fabiana Vieira; Figueiredo, José Antônio Poli de

2000-01-01

Objective: The aim of the present study was to verify the prevalence of the cystic and non-cystic lesions, with varied degrees of abscess severity, in teeth bearing periapical lesions associated to the dental apex at the time of their extraction. Material and methods: In order to do so, semi-serial cuts were conducted in 102 periapical lesions which were then dyed by the HE technique. The lesions were classified by two observers in periapical granuloma, 1,2 and 3 degrees periapical abscess, 1...

Low Levels of IGF-1 Contribute to Alveolar Macrophage Dysfunction in Cystic Fibrosis1

OpenAIRE

Bessich, Jamie L.; Nymon, Amanda B.; Moulton, Lisa A; Dorman, Dana; Ashare, Alix

2013-01-01

Alveolar macrophages are major contributors to lung innate immunity. Although alveolar macrophages from CFTR−/− mice have impaired function, no study has investigated primary alveolar macrophages in adults with cystic fibrosis (CF). CF patients have low levels of insulin-like growth factor 1 (IGF-1), and our prior studies demonstrate a relationship between IGF-1 and macrophage function. We hypothesize that reduced IGF-1 in CF leads to impaired alveolar macrophage function and chronic infectio...

Sclerotherapy for Benign Cystic Diseases in the Neck

Energy Technology Data Exchange (ETDEWEB)

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

2012-08-15

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

Sclerotherapy for Benign Cystic Diseases in the Neck

International Nuclear Information System (INIS)

Kim, Ji Hoon; Sohn, Chul Ho; Choi, Seung Hong; Yun, Tae Jin

2012-01-01

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

C3 polymorphism in a Danish cystic fibrosis population and its possible association with antibody response

DEFF Research Database (Denmark)

Schiøtz, P O; Høiby, N; Morling, N

1978-01-01

The C3 types of human serum are reported for a material of 113 Danish cystic fibrosis patients, age 0-30 years. The frequency of the C3F gene was 0.2832 which was significantly higher (p less than 0.0005) than the frequency found in a control group of 224 healthy babies (C3F = 0.1585). It also di...

Maintenance of nutritional status in patients with cystic fibrosis: new and emerging therapies

Directory of Open Access Journals (Sweden)

Kalnins D

2012-06-01

Full Text Available Daina Kalnins,1 Michael Wilschanski21Clinical Dietetics, Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; 2Pediatric Gastroenterology Unit, Hadassah University Hospitals, Jerusalem, IsraelAbstract: Poor clinical outcomes in cystic fibrosis are often associated with undernutrition. Normal growth and development should be achieved in cystic fibrosis, and nutritional counseling is paramount at all ages. Prevention and early detection of growth failure is the key to successful nutritional intervention. The advance in nutritional management is certainly one factor that has contributed to the improved survival in recent decades. This review outlines the major nutritional parameters in the management of the patient with cystic fibrosis, including recent advances in pancreatic enzyme replacement therapy and fat-soluble vitamin therapy. There are sections on complicated clinical situations which directly affect nutrition, for example, before and after lung transplantation, cystic fibrosis-related diabetes, and bone health.Keywords: cystic fibrosis, nutrition, fat-soluble vitamins, pancreatic enzymes

MicroRNAs in the pathogenesis of cystic kidney disease.

Science.gov (United States)

Phua, Yu Leng; Ho, Jacqueline

2015-04-01

Cystic kidney diseases are common renal disorders characterized by the formation of fluid-filled epithelial cysts in the kidneys. The progressive growth and expansion of the renal cysts replace existing renal tissue within the renal parenchyma, leading to reduced renal function. While several genes have been identified in association with inherited causes of cystic kidney disease, the molecular mechanisms that regulate these genes in the context of post-transcriptional regulation are still poorly understood. There is increasing evidence that microRNA (miRNA) dysregulation is associated with the pathogenesis of cystic kidney disease. In this review, recent studies that implicate dysregulation of miRNA expression in cystogenesis will be discussed. The relationship of specific miRNAs, such as the miR-17∼92 cluster and cystic kidney disease, miR-92a and von Hippel-Lindau syndrome, and alterations in LIN28-LET7 expression in Wilms tumor will be explored. At present, there are no specific treatments available for patients with cystic kidney disease. Understanding and identifying specific miRNAs involved in the pathogenesis of these disorders may have the potential to lead to the development of novel therapies and biomarkers.

Different manifestations of calcifying cystic odontogenic tumor

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Estevam Rubens Utumi

2012-09-01

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

Cystic Fibrosis (CF): Chloride Sweat Test

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

Anaesthesia for parturients with severe cystic fibrosis: a case series.

LENUS (Irish Health Repository)

Deighan, M

2014-02-01

Cystic fibrosis affects 1 in 1600-2500 live births and is inherited in an autosomal recessive manner. It primarily involves the respiratory, gastrointestinal and reproductive tracts, with impaired clearance of, and obstruction by, increasingly viscous secretions. Severe respiratory disease, diabetes and gastro-oesophageal reflux may result. Improvements in medical management and survival of cystic fibrosis patients means more are committing to pregnancies. Although guidance for anaesthesia in this patient group is available, management and outcome data associated with more severe cases are sparse. Patients with severe cystic fibrosis require multidisciplinary input and should be managed in a tertiary referral centre. Close monitoring of respiratory function and preoperative optimisation during pregnancy are mandatory. The risk of preterm labour and delivery is increased. Pregnancy and delivery can be managed successfully, even in patients with FEV1 <40% predicted. Neuraxial anaesthesia and analgesia should be the technique of choice for delivery. Postoperative care should be carried out in a critical care setting with the provision of postoperative ventilation if necessary.

Cystic pancreatic neuroendocrine tumors (cPNETs: a systematic review and meta-analysis of case series

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Luis Hurtado-Pardo

Full Text Available Cystic pancreatic neuroendocrine tumors represent 13% of all neuroendocrine tumors. The aim of this study is to analyze the phenotype and biologic behavior of resected cystic neuroendocrine tumors. A systematic review and meta-analysis were conducted until September 2016 using a search in Medline, Scopus, and EMBASE with the terms "cystic pancreatic endocrine neoplasm", "cystic islets tumors" and "cystic islets neoplasms". From the 795 citations recovered 80 studies reporting on 431 patients were selected. 87.1% (n = 387 were sporadic tumors and 10.3% (n = 40 corresponded to multiple endocrine neoplasia type 1. Were diagnosed incidentally 44.6% (n = 135. Cytology was found to have a sensitivity of 78.5%. Were non-functional tumors 85% (n = 338, and among the functional tumors, insulinoma was the most frequent. According to the European Neuroendocrine Tumor Society staging, 87.8% were limited to the pancreas (I-IIb, and 12.2% were advanced (III-IV. Disease-free survival at 5 years in stages (I-IIIa and (IIIb-IV was 91.5% and 54.2%, respectively; and was significantly lower (p = 0.0001 in functional tumors. In patients with multiple endocrine neoplasia there was a higher incidence of functional (62.5% and multifocal (28.1% tumors. Disease-free survival at 5 and 10 years was 60%. Cystic pancreatic neuroendocrine tumors exhibit phenotypical characteristics which are different to those of solid neuroendocrine tumors.

Conservative Treatment for Cystic Duct Stenosis in a Child

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Marco Gasparetto

2013-01-01

Full Text Available Introduction. Few cases of common bile duct stenosis have been reported in the literature, and observations of strictures in the cystic duct are even more rare. Surgical cholecystectomy is the treatment needed in most cases of gallbladder hydrops. This paper describes the diagnosis and successful medical treatment of a rare pediatric case of cystic duct stenosis and gallbladder hydrops. Case Report. A formerly healthy one-year-old girl was admitted with colicky abdominal pain. Blood tests were normal, except for an increase in transaminases. Abdominal ultrasound excluded intestinal intussusception and identified a distended gallbladder with biliary sludge. MR cholangiography revealed a dilated gallbladder containing bile sediment and no detectable cystic duct, while the rest of the intra- and extrahepatic biliary tree and hepatic parenchyma were normal. This evidence was consistent with gallbladder hydrops associated with cystic duct stenosis. The baby was treated with i.v. hydration, corticosteroids, antibiotics, and ursodeoxycholic acid. Her general condition rapidly improved, with no further episodes of abdominal pain and normalization of liver enzymes. This allowed to avoid cholecystectomy, and the child is well 1.5 years after diagnosis. Conclusions. Although cholecystectomy is usually necessary in case of gallbladder hydrops, our experience suggests that surgical procedures can be avoided when the distension is caused by a cystic duct stenosis.

Management of cystic lymphangiomas in Ile-Ife, Nigeria | Sowande ...

African Journals Online (AJOL)

Background: The management of cystic lymphangiomas is and challenging. Of all the available modalities of treatment, surgery remains the gold standard but it is associated with significant morbidity and mortality. Method: Retrospective analysis of 28 cases of cystic lymphangioma seen at the Obafemi Awolowo University ...

Macrolide resistance of Staphylococcus aureus and Haemophilus species associated with long-term azithromycin use in cystic fibrosis

NARCIS (Netherlands)

S.J. Phaff (Sonja); H.A.W.M. Tiddens (Harm); H.A. Verbrugh (Henri); A. Ott (Alewijn)

2006-01-01

textabstractOBJECTIVES: Azithromycin is used to modulate exuberant inflammatory response in patients with cystic fibrosis (CF). The purpose of this study was to determine the association between long-term use of azithromycin in CF patients and change over time in macrolide susceptibility of

Production of N-acyl-L-homoserine lactones by P. aeruginosa isolates from chronic lung infections associated with cystic fibrosis

DEFF Research Database (Denmark)

Geisenberger, O; Givskov, M; Riedel, K

2000-01-01

The N-acyl-L-homoserine lactones (AHLs) produced by sequential Pseudomonas aeruginosa isolates from chronically infected patients with cystic fibrosis were analyzed by thin-layer chromatography. It is demonstrated that both the amounts and the types of molecules synthesized by isolates from...

Adenoid cystic carcinoma of the breast

International Nuclear Information System (INIS)

Kallel, R.; Bahri Zouari, I.; Gouiaa, N.; Charfi, S.; Ayadi, L.; Makni, S.; Sellami Boudawara, T.; Daoud, E.; Daoud, J.

2009-01-01

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

Cystic lesion around the hip joint

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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

Evidence for transmission of Pseudomonas cepacia by social contact in cystic fibrosis.

Science.gov (United States)

Govan, J R; Brown, P H; Maddison, J; Doherty, C J; Nelson, J W; Dodd, M; Greening, A P; Webb, A K

1993-07-03

Pulmonary colonisation with Pseudomonas cepacia in patients with cystic fibrosis can be associated with increased morbidity and mortality. The modes of transmission of P cepacia are, however, unclear. We used selective media and phenotypic and genomic typing systems to investigate the acquisition of P cepacia by adults with cystic fibrosis. An analysis of isolates from 210 patients attending regional clinics in Edinburgh and Manchester between 1986 and 1992 showed that the main cause of increased isolations of P cepacia from 1989 was the emergence of an epidemic strain that had spread between patients in both clinics. Epidemiological evidence indicated that social contact was important in spread of the epidemic strain within and between clinics. We suggest that guidelines to limit the acquisition of P cepacia should not be restricted to patients in hospital, and that intimate or frequent social contact is associated with a high risk of cross-infection.

Ultrasound Imaging of Cystic Nephroma

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Federico Greco

2017-07-01

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

CFTR-dependent defect in alternatively-activated macrophages in cystic fibrosis.

Science.gov (United States)

Tarique, Abdullah A; Sly, Peter D; Holt, Patrick G; Bosco, Anthony; Ware, Robert S; Logan, Jayden; Bell, Scott C; Wainwright, Claire E; Fantino, Emmanuelle

2017-07-01

The role of the macrophages in cystic fibrosis (CF) lung disease has been poorly studied. We hypothesized that alternatively activated M2 macrophages are abnormal in CF lung disease. Blood samples were collected from adults (n=13) children (n=27) with CF on admission for acute pulmonary exacerbation and when clinically stable. Monocytes were differentiated into macrophages and polarized into classical (M1) and alternatively-activated (M2) phenotypes, function determined ex-vivo and compared with healthy controls. In the absence of functional cystic fibrosis trans-membrane conductance regulator (CFTR), either naturally in patients with CF or induced with CFTR inhibitors, monocyte-derived macrophages do not respond to IL-13/IL-4, fail to polarize into M2s associated with a post-transcriptional failure to produce and express IL-13Rα1 on the macrophage surface Polarization to the M1 phenotype was unaffected. CFTR-dependent imbalance of macrophage phenotypes and functions could contribute to the exaggerated inflammatory response seen in CF lung disease. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Ultrasonographic findings of low-grade endometrial stromal sarcoma of the uterus with a focus on cystic degeneration

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Park, Ga Eun; Rha, Sung Eun; Oh, Soon Nam; Lee, Ah Won; Lee, Keun Ho; Kim, Mee Ran [Seoul St. Mary' s Hospital, College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

2016-03-15

The goal of this study was to perform a retrospective analysis of the ultrasonographic findings associated with low-grade endometrial stromal sarcoma. Ten pathologically confirmed cases of low-grade endometrial stromal sarcoma at our institution from January 2007 to April 2014 were retrospectively reviewed. All patients underwent a preoperative transvaginal ultrasound. Two radiologists came to a consensus regarding the location, size, margin, and echogenicity of the tumor, as well as the presence of intratumoral cystic degeneration and its extent and configuration. Low-grade endometrial stromal sarcoma manifested as an intramural mass protruding into the endometrial cavity (n=6) or as a purely intramural mass (n=4). The maximal diameter of the lesion ranged from 4 to 9.1 cm (mean, 6.2 cm). The imaging features of low-grade endometrial stromal sarcoma were variable: six cases involved predominantly solid masses containing cystic degeneration, one was a predominantly unilocular cystic mass, two were ill-defined infiltrative solid masses, and one was a well-defined solid mass. Among the seven cases with internal cystic degeneration, five patients showed a multiseptated cystic area or a cystic area with multiple small clusters, while a unilocular cystic area within the tumor was found in two patients. Low-grade endometrial stromal sarcoma is associated with variable ultrasonographic findings with regard to the location, margin, and configuration of the lesion. Multiseptated cystic areas and multiple small areas of cystic degeneration are common.

Congenital cystic eyeball

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Gupta V

1990-01-01

Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

Radiological diagnosis of hypernephromas in renal cysts or cystic kidneys

International Nuclear Information System (INIS)

Crone-Muenzebrock, W.; Brassow, F.

1981-01-01

The article presents the roentgenological results obtained in 12 patients with hypernephroma in a renal cyst or cystic kidneys, the hypernephroma having been identified surgically and histologically. The patients had been examined either vial IV pyelogram, sonography, computerized tomography and angiography, or with several of these methods. The renal tumor was identified with the help of sonography, computerized tomography and angiography in all cases. The IV pyelogram failed to produce a conclusive results in 2 cases. The space-occupying growth was wrongly assessed in respect of dignity because of the absence of solid tumor parts in 3 out of 5 cystic space-occupying growths via IV pyelogram, in 2 out of 4 cases via sonography and in 1 out of 4 cases via computerized tomography; these methods yielded the erroneous finding that the hypernephroma was a purely cystic space-occupying growth, whereas angiography yielded the correct diagnosis of the type of hypernephroma in 11 out of 12 patients. (orig.) [de

Factors associated with worse lung function in cystic fibrosis patients with persistent staphylococcus aureus

OpenAIRE

Junge, S. (Sibylle); Görlich, D. (Dennis); Reijer, M.D. (Martijn Den); Wiedemann, Baerbel; Tümmler, Burkhard; Ellemunter, H.; Dübbers, A. (Angelika); Küster, P. (Peter); Ballmann, M.; Koerner-Rettberg, C. (Cordula); Große-Onnebrink, J. (Jörg); Heuer, E. (Eberhardt); Sextro, W. (Wolfgang); Mainz, J.G. (Jochen G.); Hammermann, J. (Jutta)

2016-01-01

textabstractBackground Staphylococcus aureus is an important pathogen in cystic fibrosis (CF). However, it is not clear which factors are associated with worse lung function in patients with persistent S. aureus airway cultures. Our main hypothesis was that patients with high S. aureus density in their respiratory specimens would more likely experience worsening of their lung disease than patients with low bacterial loads. Methods Therefore, we conducted an observational prospective longitudi...

Blunted perception of neural respiratory drive and breathlessness in patients with cystic fibrosis

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Charles C. Reilly

2016-03-01

Full Text Available The electromyogram recorded from the diaphragm (EMGdi and parasternal intercostal muscle using surface electrodes (sEMGpara provides a measure of neural respiratory drive (NRD, the magnitude of which reflects lung disease severity in stable cystic fibrosis. The aim of this study was to explore perception of NRD and breathlessness in both healthy individuals and patients with cystic fibrosis. Given chronic respiratory loading and increased NRD in cystic fibrosis, often in the absence of breathlessness at rest, we hypothesised that patients with cystic fibrosis would be able to tolerate higher levels of NRD for a given level of breathlessness compared to healthy individuals during exercise. 15 cystic fibrosis patients (mean forced expiratory volume in 1 s (FEV1 53.5% predicted and 15 age-matched, healthy controls were studied. Spirometry was measured in all subjects and lung volumes measured in the cystic fibrosis patients. EMGdi and sEMGpara were recorded at rest and during incremental cycle exercise to exhaustion and expressed as a percentage of maximum (% max obtained from maximum respiratory manoeuvres. Borg breathlessness scores were recorded at rest and during each minute of exercise. EMGdi % max and sEMGpara % max and associated Borg breathlessness scores differed significantly between healthy subjects and cystic fibrosis patients at rest and during exercise. The relationship between EMGdi % max and sEMGpara % max and Borg score was shifted to the right in the cystic fibrosis patients, such that at comparable levels of EMGdi % max and sEMGpara % max the cystic fibrosis patients reported significantly lower Borg breathlessness scores compared to the healthy individuals. At Borg score 1 (clinically significant increase in breathlessness from baseline corresponding levels of EMGdi % max (20.2±12% versus 32.15±15%, p=0.02 and sEMGpara % max (18.9±8% versus 29.2±15%, p=0.04 were lower in the healthy individuals compared to the cystic

Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

Science.gov (United States)

Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

2015-05-07

Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

Parental care and overprotection of children with cystic fibrosis.

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Cappelli, M; McGrath, P J; MacDonald, N E; Katsanis, J; Lascelles, M

1989-09-01

Parental overprotection has often been clinically associated with the psychological maladjustment of children with a chronic disease. The purpose of this study was to examine parental care and overprotection in children with cystic fibrosis compared to healthy controls. Results indicated no differences in the level of parental care or overprotection between controls and children with cystic fibrosis. However, a number of significant correlations were found between parental care and overprotection and children's psychosocial functioning. In particular, positive correlations were found between parental overprotection and poor psychosocial functioning in children with cystic fibrosis, whereas, poor psychosocial functioning in healthy children was associated with lack of parental care. Parental overprotection and care appear to play important roles in the emotional and psychological functioning of healthy and chronically ill children.

Type 3 Neovascularization Associated with Retinitis Pigmentosa.

Science.gov (United States)

Sayadi, Jihene; Miere, Alexandra; Souied, Eric H; Cohen, Salomon Y

2017-01-01

To report a case of type 3 neovascular lesion in a patient with retinitis pigmentosa (RP) complicated by macular edema. A 78-year-old man with a long follow-up for RP was referred for painless visual acuity decrease in the right eye. Best-corrected visual acuity was 20/125 in the right eye and 20/40 in the left. Fundus examination showed typical RP and macular edema in both eyes. In the right eye, spectral domain optical coherence tomography revealed a marked cystic macular edema associated with disruption of the Bruch membrane/retinal pigment epithelium complex overlying a pigmentary epithelium detachment, with a vascular structure which appeared to originate from the deep capillary plexus and to be connected with the subretinal pigment epithelium space. Optical coherence tomography angiography showed a high-flow vessel infiltrating the outer retinal layers in the deep capillary plexus segmentation, and a tuft-shaped, bright, high-flow network that seemed to be connected with the subretinal pigment epithelium space in the outer retinal layer segmentation. This presentation was consistent with an early type 3 neovascular lesion in the right eye. Type 3 neovascularization may be considered a possible complication of RP.

Cystic pancreatic lymphangioma

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Alihan Gurkan

2012-04-01

Full Text Available Lymphangioma of the pancreas is a rare benign tumor of lymphatic origin. Retroperitoneal lymphangiomas account for 1% of all lymphangiomas. Herein, we report a case of cystic pancreatic lymphangioma diagnosed in 34 year-old female patient who was hospitalized for a slight pain in the epigastrium and vomiting. Radiological imaging revealed a large multiloculated cystic abdominal mass with enhancing septations involving the upper retroperitoneum. During the laparoscopic surgery, a well circumscribed polycystic tumor was completely excised preserving the pancreatic duct. The patient made a complete recovery and is disease-free 12 months postoperatively.

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.

Science.gov (United States)

Ockenga, J; Stuhrmann, M; Ballmann, M; Teich, N; Keim, V; Dörk, T; Manns, M P

2000-08-01

We investigated whether mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and cationic trypsinogen gene are associated with recurrent acute, or chronic idiopathic pancreatitis. Twenty patients with idiopathic pancreatitis (11 women, nine men; mean age, 30 yr) were studied for the presence of a CFTR mutation by screening the genomic DNA for more than 30 mutations and variants in the CFTR gene. Selected mutations of the cationic trypsinogen gene were screened by Afl III restriction digestion or by a mutation-specific polymerase chain reaction (PCR). In each patient exons 1, 2, and 3 of the cationic trypsinogen gene were sequenced. Patients with a CFTR mutation underwent evaluation of further functional electrophysiological test (intestinal current measurement). No mutation of the cationic trypsinogen gene was detected. A CFTR mutation was detected in 6/20 (30.0%) patients. Three patients (15.0%) had a cystic fibrosis (CF) mutation on one chromosome (deltaF508, I336K, Y1092X), which is known to cause phenotypical severe cystic fibrosis. One patient was heterozygous for the 5T allele. In addition, two possibly predisposing CFTR variants (R75Q, 1716G-->A) were detected on four patients, one of these being a compound heterozygous for the missense mutation I336K and R75Q. No other family member (maternal I336K; paternal R75Q; sister I1336K) developed pancreatitis. An intestinal current measurement in rectum samples of patients with a CFTR mutation revealed no CF-typical constellations. CFTR mutations are associated with recurrent acute, or chronic idiopathic pancreatitis, whereas mutations of the cationic trypsinogen mutation do not appear to be a frequent pathogenetic factor.

Cystic neutrophilic granulomatous mastitis associated with Corynebacterium including Corynebacterium kroppenstedtii.

Science.gov (United States)

Johnstone, Kate J; Robson, Jennifer; Cherian, Sarah G; Wan Sai Cheong, Jenny; Kerr, Kris; Bligh, Judith F

2017-06-01

Granulomatous (lobular) mastitis is a rare inflammatory breast disease affecting parous reproductive-aged women. Once considered idiopathic, there is growing evidence of an association with corynebacteria infection, especially in the setting of a distinct histological pattern termed cystic neutrophilic granulomatous mastitis (CNGM). We describe 15 cases with histological features either confirming (n = 12) or suggesting (n = 3) CNGM, and concurrent microbiological evidence of Corynebacterium species. The organism was detected by culture or 16S rRNA gene sequencing of specimens obtained at surgery or fine needle aspiration. In seven cases, Gram-positive organisms were seen within vacuolated spaces. Speciation was performed in nine cases, with Corynebacterium kroppenstedtii subsequently identified. These cases provide further evidence in support of this association and in doing so highlight the importance of recognising these histological clues as well as the limitations of Gram stain and microbiological culture in detecting this previously under-recognised disease process. Copyright © 2017 Royal College of Pathologists of Australasia. All rights reserved.

Type 1 diabetes genome-wide association studies

DEFF Research Database (Denmark)

Pociot, Flemming

2017-01-01

Genetic studies have identified >60 loci associated with the risk of developing type 1 diabetes (T1D). The vast majority of these are identified by genome-wide association studies (GWAS) using large case-control cohorts of European ancestry. More than 80% of the heritability of T1D can be explained...... by GWAS data in this population group. However, with few exceptions, their individual contribution to T1D risk is low and understanding their function in disease biology remains a huge challenge. GWAS on its own does not inform us in detail on disease mechanisms, but the combination of GWAS data...... with other omics-data is beginning to advance our understanding of T1D etiology and pathogenesis. Current knowledge supports the notion that genetic variation in both pancreatic β cells and in immune cells is central in mediating T1D risk. Advances, perspectives and limitations of GWAS are discussed...

Vitamin A supplementation for cystic fibrosis.

Science.gov (United States)

Bonifant, Catherine M; Shevill, Elizabeth; Chang, Anne B

2014-05-14

People with cystic fibrosis and pancreatic insufficiency are at risk of fat soluble vitamin deficiency as these vitamins (A, D, E and K) are co-absorbed with fat. Thus, some cystic fibrosis centres routinely administer these vitamins as supplements but the centres vary in their approach of addressing the possible development of deficiencies in these vitamins. Vitamin A deficiency causes predominantly eye and skin problems while supplementation of vitamin A to excessive levels may cause harm to the respiratory and skeletal systems in children. Thus a systematic review on vitamin A supplementation in people with cystic fibrosis would help guide clinical practice. To determine if vitamin A supplementation in children and adults with cystic fibrosis:1. reduces the frequency of vitamin A deficiency disorders;2. improves general and respiratory health;3. increases the frequency of vitamin A toxicity. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register which comprises of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Cystic Fibrosis Trials Register: 07 April 2014. All randomised or quasi-randomised controlled trials comparing all preparations of oral vitamin A used as a supplement compared to either no supplementation (or placebo) at any dose and for any duration, in children or adults with cystic fibrosis (defined by sweat tests or genetic testing) with and without pancreatic insufficiency. No relevant studies for inclusion were identified in the search. No studies were included in this review. As there were no randomised or quasi-randomised controlled trials identified, we cannot draw any conclusions on the benefits (or otherwise) of regular administration of vitamin A in people with cystic fibrosis. Until further data are available, country or region specific guidelines on the use of

Cystic Lesions in Autoimmune Pancreatitis

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Macarena Gompertz

2015-11-01

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

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

International Nuclear Information System (INIS)

Na, Dong Gyu; Kim, Dae Sik; Kim, Soo Jin; Kim, Ji Hoon

2016-01-01

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

Cystic fibrosis: case report

International Nuclear Information System (INIS)

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

2002-01-01

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

Cystic fibrosis: case report

International Nuclear Information System (INIS)

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

2002-01-01

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

Factors Associated with Worse Lung Function in Cystic Fibrosis Patients with Persistent Staphylococcus aureus

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Junge, Sibylle; G?rlich, Dennis; den Reijer, Martijn; Wiedemann, B?rbel; T?mmler, Burkhard; Ellemunter, Helmut; D?bbers, Angelika; K?ster, Peter; Ballmann, Manfred; Koerner-Rettberg, Cordula; Gro?e-Onnebrink, J?rg; Heuer, Eberhardt; Sextro, Wolfgang; Mainz, Jochen G.; Hammermann, Jutta

2016-01-01

Background Staphylococcus aureus is an important pathogen in cystic fibrosis (CF). However, it is not clear which factors are associated with worse lung function in patients with persistent S. aureus airway cultures. Our main hypothesis was that patients with high S. aureus density in their respiratory specimens would more likely experience worsening of their lung disease than patients with low bacterial loads. Methods Therefore, we conducted an observational prospective longitudinal multi-ce...

Understanding the natural progression in %FEV1 decline in patients with cystic fibrosis

DEFF Research Database (Denmark)

Taylor-Robinson, David; Whitehead, Margaret; Diderichsen, Finn

2012-01-01

BACKGROUND: Forced expiratory volume in 1 s as a percentage of predicted (%FEV(1)) is a key outcome in cystic fibrosis (CF) and other lung diseases. As people with CF survive for longer periods, new methods are required to understand the way %FEV(1) changes over time. An up to date approach...

Associations between adherence, depressive symptoms and health-related quality of life in young adults with cystic fibrosis.

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Knudsen, K B; Pressler, T; Mortensen, L H; Jarden, M; Skov, M; Quittner, A L; Katzenstein, T; Boisen, K A

2016-01-01

Cystic fibrosis (CF) is a life shortening disease, however prognosis has improved and the adult population is growing. Most adults with cystic fibrosis live independent lives and balance the demands of work and family life with a significant treatment burden. The aim of this study was to examine the relationships among treatment adherence, symptoms of depression and health-related quality of life (HRQoL) in a population of young adults with CF. We administered three standardized questionnaires to 67 patients with CF aged 18-30 years; Morisky Medication Adherence Scale, Major Depression Inventory, and Cystic Fibrosis Questionnaire-Revised. There was a response rate of 77 % and a majority of the young adults (84 %) were employed or in an education program. Most participants (74 %) reported low adherence to medications. One third (32.8 %) of the participants reported symptoms of depression. HRQoL scores were especially low on Vitality and Treatment Burden, and symptoms of depression were associated with low HRQoL scores (p health, many patients with CF report poor adherence, as well as impaired mental wellbeing and HRQoL. Thus, more attention to mental health issues is needed.

Oral calorie supplements for cystic fibrosis.

Science.gov (United States)

Smyth, Rosalind L; Rayner, Oli

2017-05-04

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

An adult cystic fibrosis patient presenting with persistent dyspnea: case report

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Farinet Catherine L

2006-05-01

Full Text Available Abstract Background Persistent dyspnea is a common finding in the cystic fibrosis patient that typically leads to further work up of an alternative pulmonary etiology. Adult cystic fibrosis patients; however, are growing in numbers and they are living into the ages in which coronary artery disease becomes prevalent. Coronary disease should be included in the consideration of diagnostic possibilities. Case presentation A 52-year-old white male with cystic fibrosis was evaluated for exertional dyspnea associated with vague chest discomfort. Diagnostic testing revealed normal white blood cell, hemoglobin and platelet count, basic metabolic panel, fasting lipid profile, HbA1c, with chest radiograph confirming chronic cystic findings unchanged from prior radiographs and an electrocardiogram that revealed sinus rhythm with left anterior fascicular block. Stress thallium testing demonstrated a reversible anteroseptal perfusion defect with a 55% left ventricular ejection fraction. Heart catheterization found a 99% occlusion of the left anterior descending artery extending into the two diagonal branches, with 100% obstruction of the left anterior descending artery at the trifurcation and 70% lesion affecting the first posterior lateral branch of the circumflex artery. Conclusion This case report represents the first description in the medical literature of a cystic fibrosis patient diagnosed with symptomatic coronary artery disease. Applying a standard clinical practice guide proved useful toward evaluating a differential diagnosis for a cystic fibrosis patient presenting with dyspnea and chest discomfort.

Immediate and Catastrophic Antibody-Mediated Rejection in a Lung Transplant Recipient With Anti-Angiotensin II Receptor Type 1 and Anti-Endothelin-1 Receptor Type A Antibodies.

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Cozzi, E; Calabrese, F; Schiavon, M; Feltracco, P; Seveso, M; Carollo, C; Loy, M; Cardillo, M; Rea, F

2017-02-01

Preexisting donor-specific anti-HLA antibodies (DSAs) have been associated with reduced survival of lung allografts. However, antibodies with specificities other than HLA may have a detrimental role on the lung transplant outcome. A young man with cystic fibrosis underwent lung transplantation with organs from a suitable deceased donor. At the time of transplantation, there were no anti-HLA DSAs. During surgery, the patient developed a severe and intractable pulmonary hypertension associated with right ventriular dysfunction, which required arteriovenous extracorporeal membrane oxygenation. After a brief period of clinical improvement, a rapid deterioration in hemodynamics led to the patient's death on postoperative day 5. Postmortem studies showed that lung specimens taken at the end of surgery were compatible with antibody-mediated rejection (AMR), while terminal samples evidenced diffuse capillaritis, blood extravasation, edema, and microthrombi, with foci of acute cellular rejection (A3). Immunological investigations demonstrated the presence of preexisting antibodies against the endothelin-1 receptor type A (ET A R) and the angiotensin II receptor type 1 (AT 1 R), two of the most potent vasoconstrictors reported to date, whose levels slightly rose after transplantation. These data suggest that preexisting anti-ET A R and anti-AT 1 R antibodies may have contributed to the onset of AMR and to the catastrophic clinical course of this patient. © Copyright 2016 The American Society of Transplantation and the American Society of Transplant Surgeons.

Renal cystic disease proteins play critical roles in the organization of the olfactory epithelium.

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Jennifer L Pluznick

Full Text Available It was reported that some proteins known to cause renal cystic disease (NPHP6; BBS1, and BBS4 also localize to the olfactory epithelium (OE, and that mutations in these proteins can cause anosmia in addition to renal cystic disease. We demonstrate here that a number of other proteins associated with renal cystic diseases - polycystin 1 and 2 (PC1, PC2, and Meckel-Gruber syndrome 1 and 3 (MKS1, MKS3 - localize to the murine OE. PC1, PC2, MKS1 and MKS3 are all detected in the OE by RT-PCR. We find that MKS3 localizes specifically to dendritic knobs of olfactory sensory neurons (OSNs, while PC1 localizes to both dendritic knobs and cilia of mature OSNs. In mice carrying mutations in MKS1, the expression of the olfactory adenylate cyclase (AC3 is substantially reduced. Moreover, in rats with renal cystic disease caused by a mutation in MKS3, the laminar organization of the OE is perturbed and there is a reduced expression of components of the odor transduction cascade (G(olf, AC3 and α-acetylated tubulin. Furthermore, we show with electron microscopy that cilia in MKS3 mutant animals do not manifest the proper microtubule architecture. Both MKS1 and MKS3 mutant animals show no obvious alterations in odor receptor expression. These data show that multiple renal cystic proteins localize to the OE, where we speculate that they work together to regulate aspects of the development, maintenance or physiological activities of cilia.

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

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Enaam Junainah

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

Episodic seasonal Pseudo-Bartter syndrome in cystic fibrosis.

Science.gov (United States)

Kintu, Brett; Brightwell, Alex

2014-06-01

Pseudo-Bartter syndrome (PBS) describes an uncommon but well recognised complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. Pseudo-Bartter syndrome is usually seen at initial presentation or within the first two years of life in children with cystic fibrosis. Risk factors for development of PBS include warm weather conditions, severe respiratory or pancreatic disease and gastrointestinal losses (e.g. vomiting and diarrhoea). PBS is rare in older children and adolescents although epidemics have been associated with heat wave conditions in warmer climates. In this era of climate change, it is crucial that clinicians consider Pseudo-Bartter syndrome when patients with cystic fibrosis present unwell during summer. Copyright © 2014 Elsevier Ltd. All rights reserved.

Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis

International Nuclear Information System (INIS)

Klinger, K.W.; Winqvist, R.; Riccio, A.

1987-01-01

The regional chromosomal location of the human gene for plasminogen activator inhibitor type 1 (PAI1) was determined by three independent methods of gene mapping. PAI1 was localized first to 7cen-q32 and then to 7q21.3-q22 by Southern blot hybridization analysis of a panel of human and mouse somatic cell hybrids with a PAI1 cDNA probe and in situ hybridization, respectively. The authors frequent HindIII restriction fragment length polymorphism (RFLP) of the PAI1 gene with an information content of 0.369. In family studies using this polymorphism, genetic linkage was found between PAI1 and the loci for erythropoietin (EPO), paraoxonase (PON), the met protooncogene (MET), and cystic fibrosis (CF), all previously assigned to the middle part of the long arm of chromosome 7. The linkage with EPO was closest with an estimated genetic distance of 3 centimorgans, whereas that to CF was 20 centimorgans. A three-point genetic linkage analysis and data from previous studies showed that the most likely order of these loci is EPO, PAI1, PON, (MET, CF), with PAI1 being located centromeric to CF. The PAI1 RFLP may prove to be valuable in ordering genetic markers in the CF-linkage group and may also be valuable in genetic analysis of plasminogen activation-related diseases, such as certain thromboembolic disorders and cancer

NUTRITIONAL STATUS IS ASSOCIATED WITH HEALTH-RELATED QUALITY OF LIFE IN CHILDREN WITH CYSTIC FIBROSIS AGED 9–19 YEARS

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Shoff, Suzanne M.; Tluczek, Audrey; Laxova, Anita; Farrell, Philip M.; Lai, HuiChuan J.

2013-01-01

Background The impact of improved nutritional status on health-related quality of life (HRQOL) is unknown for children with cystic fibrosis (CF). Methods Associations between nutritional status and HRQOL were examined over 2 years in 95 children, aged 9–19 years, who were followed in the Wisconsin Newborn Screening Project. HRQOL was assessed using the Cystic Fibrosis Questionnaire (CFQ). Associations between height z-score (HtZ), BMI z-score (BMIZ) and seven CFQ dimensions were evaluated. Results Mean values of at least 80 were observed for all CFQ dimensions except respiratory symptoms and treatment burden. Treatment burden was significantly worse in patients with meconium ileus (57) compared to pancreatic insufficient (65) and sufficient (78) subjects, pnutritional status was associated with increased HRQOL scores. Early diagnosis through newborn screening and improved nutrition provides an opportunity to enhance quality of life and body image perception. PMID:23410621

Delayed cystic fibrosis presentation in children in the absence of newborn screening.

LENUS (Irish Health Repository)

Jackson, A

2010-04-01

Newborn cystic fibrosis (CF) screening facilitates early diagnosis and nutritional intervention, which prevents malnourishment and improves growth in childhood. To provide baseline information on the natural history of CF in the Republic of Ireland, where newborn screening has not yet been introduced and CF incidence is high (1:1353 live births), we examined the effect of presentation mode, symptom type and gender on age at diagnosis. Median age at diagnosis was calculated by gender and for presentation mode\\/symptom type for 601 CF registry children diagnosed 1986-2007. Modes of presentation were each significantly associated with delayed presentation. An adjusted odds ratio of 4.5 (95% CI: 1.8, 11.1) was determined for presentation with family history, 43.1 for gastrointestinal symptoms presentation (95% CI: 18.3, 101.4), 96.9 for both respiratory and gastrointestinal symptoms (95% CI: 38.6, 243,4), and 115.4 for respiratory symptoms (95% CI: 45.2, 294.7). Children with respiratory symptoms had the greatest likelihood of delayed diagnosis (median age: 20.4 months), followed by those with respiratory and gastrointestinal symptoms (9.2 months). Gender was not significantly associated with a delayed presentation when presentation mode was taken into account.

Prevalence of cystic macular lesions in patients with Usher II syndrome.

Science.gov (United States)

Walia, S; Fishman, G A; Hajali, M

2009-05-01

To evaluate the prevalence of cystic macular lesions in patients with Usher II syndrome. All Usher type II patients seen in the inherited eye disease clinic at the University of Illinois at Chicago between January 2002 and December 2007 were included (n=76). Each participating patient underwent a detailed clinical examination, including best-corrected visual acuity, slit-lamp biomicroscopy and dilated fundus examination. The presence of cystoid lesions was determined by optical coherence tomography (OCT), fundus fluorescein angiogram (FFA), fundus photographs and/or clinical examination. A cystic-appearing macular change was observed in at least one eye in 19 out of the 76 patients (25%), 13 on the basis of OCT, five using FFA (two solely with the use of FFA and three based on clinical notes and FFA findings) and one based solely on clinical notes. Of the 18 patients with CME, determined by OCT or FFA, five (27.8%) showed either a funduscopically normal-appearing macula (n=4) or an atrophic appearing macular change (n=1). One-fourth of our total cohort of Usher II patients had cystic macular lesions. Moreover, a funduscopically normal-appearing macula was observed in 22% (n=4) of our 18 patients with cystic-appearing macular lesions on OCT and/or FFA testing. On the basis of the reasonably high prevalence of cystic macular lesions in our cohort, it would seem prudent to evaluate Usher II patients for the presence of cystoid macular oedema.

CFTR Genotype and Maximal Exercise Capacity in Cystic Fibrosis: A Cross-sectional Study.

Science.gov (United States)

Radtke, Thomas; Hebestreit, Helge; Gallati, Sabina; Schneiderman, Jane E; Braun, Julia; Stevens, Daniel; Hulzebos, Erik Hj; Takken, Tim; Boas, Steven R; Urquhart, Don S; Lands, Larry C; Tejero, Sergio; Sovtic, Aleksandar; Dwyer, Tiffany; Petrovic, Milos; Harris, Ryan A; Karila, Chantal; Savi, Daniela; Usemann, Jakob; Mei-Zahav, Meir; Hatziagorou, Elpis; Ratjen, Felix; Kriemler, Susi

2018-02-01

Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in human skeletal muscle cells. Variations of CFTR dysfunction among patients with cystic fibrosis may be an important determinant of maximal exercise capacity in cystic fibrosis. Previous studies on the relationship between CFTR genotype and maximal exercise capacity are scarce and contradictory. This study was designed to explore factors influencing maximal exercise capacity, expressed as peak oxygen uptake (V.O2peak), with a specific focus on CFTR genotype in children and adults with cystic fibrosis. In an international, multicenter, cross-sectional study, we collected data on CFTR genotype and cardiopulmonary exercise tests in patients with cystic fibrosis who were ages 8 years and older. CFTR mutations were classified into functional classes I–V. The final analysis included 726 patients (45% females; age range, 8–61 yr; forced expiratory volume in 1 s, 16 to 123% predicted) from 17 cystic fibrosis centers in North America, Europe, Australia, and Asia, all of whom had both valid maximal cardiopulmonary exercise tests and complete CFTR genotype data. Overall, patients exhibited exercise intolerance (V.O2peak, 77.3 ± 19.1% predicted), but values were comparable among different CFTR classes. We did not detect an association between CFTR genotype functional classes I–III and either V.O2peak (percent predicted) (adjusted β = −0.95; 95% CI, −4.18 to 2.29; P = 0.57) or maximum work rate (Wattmax) (adjusted β = −1.38; 95% CI, −5.04 to 2.27; P = 0.46) compared with classes IV–V. Those with at least one copy of a F508del-CFTR mutation and one copy of a class V mutation had a significantly lower V.O2peak (β = −8.24%; 95% CI, −14.53 to −2.99; P = 0.003) and lower Wattmax (adjusted β = −7.59%; 95% CI, −14.21 to −0.95; P = 0.025) than those with two copies of a class II mutation. On the basis of linear regression analysis adjusted for

Poly Cystic Ovarian Syndrome: An Updated Overview

Science.gov (United States)

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

2016-01-01

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

Type 3 Neovascularization Associated with Retinitis Pigmentosa

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Jihene Sayadi

2017-04-01

Full Text Available Purpose: To report a case of type 3 neovascular lesion in a patient with retinitis pigmentosa (RP complicated by macular edema. Case Report: A 78-year-old man with a long follow-up for RP was referred for painless visual acuity decrease in the right eye. Best-corrected visual acuity was 20/125 in the right eye and 20/40 in the left. Fundus examination showed typical RP and macular edema in both eyes. In the right eye, spectral domain optical coherence tomography revealed a marked cystic macular edema associated with disruption of the Bruch membrane/retinal pigment epithelium complex overlying a pigmentary epithelium detachment, with a vascular structure which appeared to originate from the deep capillary plexus and to be connected with the subretinal pigment epithelium space. Optical coherence tomography angiography showed a high-flow vessel infiltrating the outer retinal layers in the deep capillary plexus segmentation, and a tuft-shaped, bright, high-flow network that seemed to be connected with the subretinal pigment epithelium space in the outer retinal layer segmentation. This presentation was consistent with an early type 3 neovascular lesion in the right eye. Conclusion: Type 3 neovascularization may be considered a possible complication of RP.

Ovarian Mature Cystic Teratoma Containing Multiple Mobile

Energy Technology Data Exchange (ETDEWEB)

Cho, Hyun Sun; Yoon, Seong Eon; Lee, Young Hwan; Kim, Hye Won; Yoon, Kwon Ha [Wonkwang University Hospital, Iksan (Korea, Republic of); Park, Seong Hoon [Asan Medical Center, Seoul (Korea, Republic of)

2006-12-15

A 48-year-old woman was admitted to our hospital with a palpable mass in her lower abdomen. A left ovarian, cystic mass containing multiple mobile globules was seen on CT and MR images. The outer portion of the globules showed fat components on CT and fat-saturated T1-weighted MR images. Ultrasonography showed multiple echogenic, mobile globules with some sound attenuation and hyper echoic lines and dots within the cystic mass, which corresponded with the presence of lipid globules and hair shafts of ovarian mature cystic teratoma, respectively

Ovarian Mature Cystic Teratoma Containing Multiple Mobile

International Nuclear Information System (INIS)

Cho, Hyun Sun; Yoon, Seong Eon; Lee, Young Hwan; Kim, Hye Won; Yoon, Kwon Ha; Park, Seong Hoon

2006-01-01

A 48-year-old woman was admitted to our hospital with a palpable mass in her lower abdomen. A left ovarian, cystic mass containing multiple mobile globules was seen on CT and MR images. The outer portion of the globules showed fat components on CT and fat-saturated T1-weighted MR images. Ultrasonography showed multiple echogenic, mobile globules with some sound attenuation and hyper echoic lines and dots within the cystic mass, which corresponded with the presence of lipid globules and hair shafts of ovarian mature cystic teratoma, respectively

Role of IRE1α/XBP-1 in Cystic Fibrosis Airway Inflammation

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Carla M. P. Ribeiro

2017-01-01

Full Text Available Cystic fibrosis (CF pulmonary disease is characterized by chronic airway infection and inflammation. The infectious and inflamed CF airway environment impacts on the innate defense of airway epithelia and airway macrophages. The CF airway milieu induces an adaptation in these cells characterized by increased basal inflammation and a robust inflammatory response to inflammatory mediators. Recent studies have indicated that these responses depend on activation of the unfolded protein response (UPR. This review discusses the contribution of airway epithelia and airway macrophages to CF airway inflammatory responses and specifically highlights the functional importance of the UPR pathway mediated by IRE1/XBP-1 in these processes. These findings suggest that targeting the IRE1/XBP-1 UPR pathway may be a therapeutic strategy for CF airway disease.

Fibrinolytic activity is associated with presence of cystic media degeneration in aneurysms of the ascending aorta

OpenAIRE

Borges , Luciano F; Gomez , Delphine; Quintana , Mercedes; Leclercq , Anne; Touat , Ziad; Jondeau , Guillaume; Meilhac , Olivier; Jandrot-Perrus , Martine; Gutierrez , Paulo Sampaio; Freymuller , Edna; Vranckx , Roger; Michel , Jean-Baptiste

2010-01-01

Abstract Aims Thoracic Ascending Aortic Aneurysms (TAA) are characterized by elastic fibre breakdown and cystic medial degeneration within the aortic media, associated with progressive SMC rarefaction. The TGF-?/Smad2 signaling pathway is involved in this process. Since pericellular fibrinolytic system activation is able to degrade adhesive proteins, activate MMPs, induce SMC disappearance and increase the bio-availability of TGF-?, we explored the plasminergic system in TAA. ...

Cystic meningiomas in 2 dogs

International Nuclear Information System (INIS)

Bagley, R.S.; Kornegay, J.N.; Lane, S.B.; Thrall, D.L.; Page, R.L.

1996-01-01

Two dogs with signs of forebrain disease had hypodense lesions on computed tomography evaluation. Magnetic resonance imaging of the first dog showed a hypointense lesion on the T1-weighted scan and a hyperintense lesion on T2-weighted scanning. At surgery, both dogs had a primary cystic intracranial lesion, and the abnormal tissue adjacent to the cyst had histological features of meningioma. Each dog underwent whole brain irradiation after surgery, and 1 dog lived for 3 years after treatment. While uncommon, meningioma should be considered as a differential diagnosis in dogs with cystic intracranial lesions

Adenoid cystic carcinoma of uterine cervix in a young patient

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Seth Ankit

2009-10-01

Full Text Available Adenoid cystic carcinoma of uterine cervix is a rare tumor. Its origin is debatable. It has a high incidence in postmenopausal women but rarely can develop in patients under 40. An association with squamous cell carcinoma has been described. We report a case of adenoid cystic carcinoma of the endocervical canal with foci of squamous cell carcinoma in a 34-year-old suffering from menorrhagia associated with blood-stained vaginal discharge. Per vaginum and per speculum examination revealed a growth. Cervical biopsy showed bits of tissue, suggesting adenoid cystic carcinoma. Patient was operated upon and uterus with cervix sent for histopathological examination. We report this case because of its rarity, particularly in young patients, with description of illustrative pathology and discussion on the histological diagnosis.

CT evaluation of cystic brain disease

International Nuclear Information System (INIS)

Kim, Joon Woo; Lee, Jin Woo; Joo, Yang Goo; Kim, Hong; Zeon, Seok Kil; Suh, Soo Jhi

1987-01-01

We retrospectively analysed CT findings of 47 cystic brain lesions of 44 patients, in which operation, biopsy or follow-up study was needed for their final diagnosis. The results were as follows: 1. The etiologic diseases of cystic brain lesions were 15 cases of brain abscess, 9 cases of astrocytoma, 5 cases of glioblastoma multiforme, 3 cases of meningioma, 5 cases of craniopharyngioma, 1 case of hemangioblastoma, 2 cases of dermoid cyst and 4 cases of metastasis. 2. We analyses the cystic lesions in view of their number, location, shape, perifocal edema, mass effect, wall and its thickness, evenness and characteristics of their inner and outer surfaces, mural nodule, calcification and contrast enhancement. a. 13.3% of brain abscess and 75% of metastases were multiple in number, but the remainder showed single lesion. b. The shape of cystic lesions were round or ovoid in 68%, lobulated in 8.5% and irregular in 23.5%, and no demonstrable difference of shape were noticed in different disease. c. In brain abscess, the wall of cystic lesions tend to be thin, even and smooth in inner surface, but the outer surfaces were equally smooth or irregular. d. Mural nodules were found in nearly half of the cases of astrocytoma, glioblastoma multiforme, metastasis and hemangioblastoma, but the brain abscess and dermoid cyst contained no mural nodule. e. Meningiomas were found to be attached to dura mater and showed thickening of the inner table of adjacent skull or of the falx. f. The presence of preceding infectious disease may be helpful in the diagnosis of brain abscess, but in 20% there were no demonstrable preceding infection. g. Lung cancer was confirmed as primary site in two of the cystic metastatic disease, but other 2 cases showed no demonstrable primary malignancy

CT evaluation of cystic brain disease

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Kim, Joon Woo; Lee, Jin Woo; Joo, Yang Goo; Kim, Hong; Zeon, Seok Kil; Suh, Soo Jhi [Keimyung University, School of Medicine, Daegu (Korea, Republic of)

1987-10-15

We retrospectively analysed CT findings of 47 cystic brain lesions of 44 patients, in which operation, biopsy or follow-up study was needed for their final diagnosis. The results were as follows: 1. The etiologic diseases of cystic brain lesions were 15 cases of brain abscess, 9 cases of astrocytoma, 5 cases of glioblastoma multiforme, 3 cases of meningioma, 5 cases of craniopharyngioma, 1 case of hemangioblastoma, 2 cases of dermoid cyst and 4 cases of metastasis. 2. We analyses the cystic lesions in view of their number, location, shape, perifocal edema, mass effect, wall and its thickness, evenness and characteristics of their inner and outer surfaces, mural nodule, calcification and contrast enhancement. a. 13.3% of brain abscess and 75% of metastases were multiple in number, but the remainder showed single lesion. b. The shape of cystic lesions were round or ovoid in 68%, lobulated in 8.5% and irregular in 23.5%, and no demonstrable difference of shape were noticed in different disease. c. In brain abscess, the wall of cystic lesions tend to be thin, even and smooth in inner surface, but the outer surfaces were equally smooth or irregular. d. Mural nodules were found in nearly half of the cases of astrocytoma, glioblastoma multiforme, metastasis and hemangioblastoma, but the brain abscess and dermoid cyst contained no mural nodule. e. Meningiomas were found to be attached to dura mater and showed thickening of the inner table of adjacent skull or of the falx. f. The presence of preceding infectious disease may be helpful in the diagnosis of brain abscess, but in 20% there were no demonstrable preceding infection. g. Lung cancer was confirmed as primary site in two of the cystic metastatic disease, but other 2 cases showed no demonstrable primary malignancy.

Benign cystic mesothelioma of the appendix presenting in a woman: a case report

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Beddy David

2010-12-01

Full Text Available Abstract Introduction Benign cystic mesothelioma or peritoneal inclusion cysts are rare benign abdominal tumors usually occurring in females of reproductive age. These cysts present as abdominopelvic pain or masses but are often found on imaging or incidentally at surgery. They are commonly associated with pelvic inflammatory disease, endometriosis, or ovarian cysts. We report what is, to the best of our knowledge, the first case of a benign cystic mesothelioma complicating a presentation of acute appendicitis. Case Presentation A 19-year-old Irish Caucasian woman presented with abdominal pain. Imaging suggested appendicitis with abscess formation. She was treated with antibiotics and scheduled for interval appendicectomy. At laparoscopy, an unusual cystic mass was found arising from the appendix. Histology revealed benign cystic mesothelioma. Conclusion We report what is, to the best of our knowledge, the first case of a benign cystic mesothelioma arising from the appendix and complicating a presentation of acute appendicitis. This is a benign pathology, but recurrences are not uncommon. Benign cystic mesothelioma should be included in the differential when investigating pelvic masses or abscesses associated with either appendicitis or pelvic inflammatory disease in women.

Benign cystic mesothelioma of the appendix presenting in a woman: a case report

LENUS (Irish Health Repository)

O' Connor, Donal B

2010-12-03

Abstract Introduction Benign cystic mesothelioma or peritoneal inclusion cysts are rare benign abdominal tumors usually occurring in females of reproductive age. These cysts present as abdominopelvic pain or masses but are often found on imaging or incidentally at surgery. They are commonly associated with pelvic inflammatory disease, endometriosis, or ovarian cysts. We report what is, to the best of our knowledge, the first case of a benign cystic mesothelioma complicating a presentation of acute appendicitis. Case Presentation A 19-year-old Irish Caucasian woman presented with abdominal pain. Imaging suggested appendicitis with abscess formation. She was treated with antibiotics and scheduled for interval appendicectomy. At laparoscopy, an unusual cystic mass was found arising from the appendix. Histology revealed benign cystic mesothelioma. Conclusion We report what is, to the best of our knowledge, the first case of a benign cystic mesothelioma arising from the appendix and complicating a presentation of acute appendicitis. This is a benign pathology, but recurrences are not uncommon. Benign cystic mesothelioma should be included in the differential when investigating pelvic masses or abscesses associated with either appendicitis or pelvic inflammatory disease in women.

The role of anaerobic bacteria in the cystic fibrosis airway.

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Sherrard, Laura J; Bell, Scott C; Tunney, Michael M

2016-11-01

Anaerobic bacteria are not only normal commensals, but are also considered opportunistic pathogens and have been identified as persistent members of the lower airway community in people with cystic fibrosis of all ages and stages of disease. Currently, the role of anaerobic bacteria in cystic fibrosis lower airway disease is not well understood. Therefore, this review describes the recent studies relating to the potential pathophysiological role(s) of anaerobes within the cystic fibrosis lungs. The most frequently identified anaerobic bacteria in the lower airways are common to both cystic fibrosis and healthy lungs. Studies have shown that in cystic fibrosis, the relative abundance of anaerobes fluctuates in the lower airways with reduced lung function and increased inflammation associated with a decreased anaerobic load. However, anaerobes found within the lower airways also produce virulence factors, may cause a host inflammatory response and interact synergistically with recognized pathogens. Anaerobic bacteria are potentially members of the airway microbiota in health but could also contribute to the pathogenesis of lower airway disease in cystic fibrosis via both direct and indirect mechanisms. A personalized treatment strategy that maintains a normal microbial community may be possible in the future.

Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia

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Shimada, Kenji; Matsumoto, Fumi; Matsui, Futosi; Obara, Takasi

2010-01-01

The objective of this study was to review our experience with female children who have unilateral renal agenesis or renal dysplasia associated with cystic lesions in the reproductive system. Between 1991 and 2007, we treated 26 patients with unilateral renal agenesis or renal dysplasia associated with pelvic, retrovesical or interlabial cystic lesions. In 16 patients, an abnormality either of the kidney or a cystic lesion was detected during the perinatal period. Another 10 patients presented clinical symptoms, including urinary incontinence in five, urinary tract infection in one, and vaginal discharge in four. Based on clinical features and imaging findings, the patients were divided into four groups: those with Gartner's duct cyst (Group 1, n=9); those with uterovaginal duplication with obstructed hemivagina (Herlyn-Werner-Wunderlich syndrome [HWW]; Group 2, n=3); those with both Gartner's duct cyst and HWW syndrome (Group 3, n=3); and those without definitive diagnosis (Group 4, n=11). In Group 1, leakage completely stopped after nephrectomy in three patients, whereas six patients continued to be incontinent despite the removal of dysgenetic kidneys. In Group 2, after the excision of a vaginal septum, no patient presented urinary incontinence. In patients in Group 3, both the mesonephric remnant and mullerian structures were confirmed on imaging or through endoscopy. Because of the high coincidence of genital and renal anomalies, it is recommended that genital systems in female patients with renal anomalies associated with cystic lesions behind the lower urinary tract be investigated. The best imaging modality to use remains under scrutiny. It is important to follow the patients until the age of puberty. The importance of a long-term follow-up in these patients needs to be emphasized. (author)

Pregnancy outcome in women with cystic fibrosis-related diabetes.

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Reynaud, Quitterie; Poupon-Bourdy, Stéphanie; Rabilloud, Muriel; Al Mufti, Lina; Rousset Jablonski, Christine; Lemonnier, Lydie; Nove-Josserand, Raphaële; Touzet, Sandrine; Durieu, Isabelle

2017-10-01

With increasing life expectancy, more women with cystic fibrosis and diabetes mellitus become pregnant. We investigated how pre-gestational diabetes (cystic fibrosis-related diabetes) influenced pregnancy outcome and the clinical status of these women. We analyzed all pregnancies reported to the French cystic fibrosis registry between 2001 and 2012, and compared forced expiratory volume (FEV 1 ) and body mass index before and after pregnancy in women with and without pre-gestational diabetes having a first delivery. A total 249 women delivered 314 infants. Among these, 189 women had a first delivery and 29 of these had pre-gestational diabetes. There was a trend towards a higher rate of assisted conception among diabetic women (53.8%) than non-diabetic women (34.5%, p = 0.06), and the rate of cesarean section was significantly higher in diabetic women (48% vs. 21.4%, p = 0.005). The rate of preterm birth and mean infant birthweight did not differ significantly between diabetic and non-diabetic women. Forced expiratory volume before pregnancy was significantly lower in the diabetic group. The decline in forced expiratory volume and body mass index following pregnancy did not differ between the women with and those without pre-gestational diabetes. Pre-gestational diabetes in women with cystic fibrosis is associated with a higher rate of cesarean section but does not seem to have a clinically significant impact on fetal growth or preterm delivery. The changes in maternal pulmonary and nutritional status following pregnancy in women with cystic fibrosis were not influenced by pre-gestational diabetes. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

MRI findings of intracranial cystic meningiomas

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Zhang, D.; Hu, L.-B.; Zhen, J.W.; Zou, L.-G.; Feng, X.-Y.; Wang, W.-X.; Wen, L.

2009-01-01

Aim: To report the magnetic resonance imaging (MRI) features of intracranial cystic meningiomas and compare these features in intra- and peritumoural cyst groups. Materials and methods: Fourteen cases of peritumoural cystic meningiomas were compared with 18 cases of intratumoural cystic meningiomas. All patients were examined using non-enhanced and contrast-enhanced MRI. Tumour location, tumour size, signal intensity, enhancement characteristics, and cystic changes were assessed. The MRI features were compared between the intra- and peritumoural cyst groups. Results: Most cystic meningiomas comprised two or more cysts. The solid parts of the tumours showed moderate or marked enhancement after the injection of contrast material. An enhanced cyst wall was found in six out of 14 cases in the peritumoural cyst group, but not in the intratumoural cyst group. Peritumoural cystic meningiomas were predominately located in the cerebral falx, whereas the intratumoural cystic meningiomas were predominantly found in frontal convexity (X 2 = 7.434, p = 0.024). The cysts were larger in the peritumoural cyst group than in the intratumoural cyst group (t = 5.274, p = 0.0258). Peritumoural oedema was more commonly found in the intratumoural cyst group (X 2 = 6.863, p = 0.008). Cystic meningiomas with solid parts located inside the cyst are reported for the first time. Conclusion: Cystic meningiomas, although uncommon, should be differentiated from other cystic intracranial lesions. Peri- and intratumoural cystic meningiomas have distinct MRI features. The present study provides the first report of two lesions with solid parts located inside the cyst, as well as one lesion with a calcified solid nodule and haemorrhage within the cyst.

The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

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Sanchez-Dominguez, Celia N.; Reyes-Lopez, Miguel A.; Bustamante, Adriana; Cerda-Flores, Ricardo M.; Villalobos-Torres, Maria del C.; Gallardo-Blanco, Hugo L.; Rojas-Martinez, Augusto; Martinez-Rodriguez, Herminia G.; Barrera-Saldaña, Hugo A.; Ortiz-Lopez, Rocio

2014-01-01

Environmental and genetic factors may modify or contribute to the phenotypic differences observed in multigenic and monogenic diseases, such as cystic fibrosis (CF). An analysis of modifier genes can be helpful for estimating patient prognosis and directing preventive care. The aim of this study is to determine the association between seven genetic variants of four modifier genes and CF by comparing their corresponding allelic and genotypic frequencies in CF patients (n = 81) and control subjects (n = 104). Genetic variants of MBL2 exon 1 (A, B, C and D), the IL-8 promoter (−251 A/T), the TNFα promoter (TNF1/TNF2), and SERPINA1 (PI*Z and PI*S) were tested in CF patients and control subjects from northeastern Mexico by PCR-RFLP. Results The TNF2 allele (P = 0.012, OR 3.43, 95% CI 1.25–9.38) was significantly associated with CF under the dominant and additive models but was not associated with CF under the recessive model. This association remained statistically significant after adjusting for multiple tests using the Bonferroni correction (P = 0.0482). The other tested variants and genotypes did not show any association with the disease. Conclusion An analysis of seven genetic variants of four modifier genes showed that one variant, the TNF2 allele, appears to be significantly associated with CF in Mexican patients. PMID:24603877

Dentigerous Cystic Changes in the Follicles Associated with Radiographically Normal Impacted Mandibular Third Molars

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Ashok Dongol; Alok Sagtani; Mehul Rajesh Jaisani; Arpita Singh; Ashish Shrestha; Anju Pradhan; Pradeep Acharya; Anjani Kumar Yadav; Ram Prasad Yadav; Arun Kumar Mahat; Iccha Kumar Maharjan; Leeza Pradhan

2018-01-01

Objective. To assess the incidence of dentigerous cystic changes in the follicles of radiographically normal impacted mandibular third molars. Methods. One hundred and thirteen follicles obtained after surgical removal of impacted mandibular third molars with radiolucency of less than 2.5 mm in the radiograph were sent for histopathologic evaluation to evaluate pathologic changes. Results. The incidence of dentigerous cystic changes observed was 15.9%, that is, 18 out of 113 patients (51 male...

Rehabilitation of an Advanced Case of Adenoid Cystic Carcinoma

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

2015-01-01

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

Rehabilitation of an Advanced Case of Adenoid Cystic Carcinoma

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Luiz Evaristo Ricci Volpato

2015-01-01

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

Liver Disease in Cystic Fibrosis: an Update

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

2013-01-01

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

Role of IL-1β in experimental cystic fibrosis upon P. aeruginosa infection.

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Jennifer Palomo

Full Text Available Cystic fibrosis is associated with increased inflammatory responses to pathogen challenge. Here we revisited the role of IL-1β in lung pathology using the experimental F508del-CFTR murine model on C57BL/6 genetic background (Cftr(tm1eur or d/d, on double deficient for d/d and type 1 interleukin-1 receptor (d/d X IL-1R1-/-, and antibody neutralization. At steady state, young adult d/d mice did not show any signs of spontaneous lung inflammation. However, IL-1R1 deficiency conferred partial protection to repeated P. aeruginosa endotoxins/LPS lung instillation in d/d mice, as 50% of d/d mice succumbed to inflammation, whereas all d/d x IL-1R1-/- double mutants survived with lower initial weight loss and less pulmonary collagen and mucus production, suggesting that the absence of IL-1R1 signaling is protective in d/d mice in LPS-induced lung damage. Using P. aeruginosa acute lung infection we found heightened neutrophil recruitment in d/d mice with higher epithelial damage, increased bacterial load in BALF, and augmented IL-1β and TNF-α in parenchyma as compared to WT mice. Thus, F508del-CFTR mice show enhanced IL-1β signaling in response to P. aeruginosa. IL-1β antibody neutralization had no effect on lung homeostasis in either d/d or WT mice, however P. aeruginosa induced lung inflammation and bacterial load were diminished by IL-1β antibody neutralization. In conclusion, enhanced susceptibility to P. aeruginosa in d/d mice correlates with an excessive inflammation and with increased IL-1β production and reduced bacterial clearance. Further, we show that neutralization of IL-1β in d/d mice through the double mutation d/d x IL-1R1-/- and in WT via antibody neutralization attenuates inflammation. This supports the notion that intervention in the IL-1R1/IL-1β pathway may be detrimental in CF patients.

Laryngeal adenoid cystic carcinoma: case report

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André Del Negro

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

Association between habitual coffee consumption and metabolic syndrome in type 1 diabetes.

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Stutz, B; Ahola, A J; Harjutsalo, V; Forsblom, C; Groop, P-H

2018-05-01

In the general population, habitual coffee consumption is inversely associated with the metabolic syndrome, a syndrome that is rather common also in patients with type 1 diabetes. However, whether coffee intake is beneficially related to the metabolic syndrome also in type 1 diabetes, is not known. We, therefore, studied the potential association between coffee consumption and the metabolic syndrome in a large population of individuals with type 1 diabetes. Furthermore, we investigated whether coffee consumption is associated with insulin resistance (estimated glucose disposal rate, eGDR), kidney function (estimated glomerular filtration rate, eGFR), and low-grade chronic inflammation (high-sensitivity C-reactive protein, hsCRP). Data from 1040 participants in the Finnish Diabetic Nephropathy Study were included in these cross-sectional analyses. Metabolic syndrome was assumed if at least 3 of the following cardiovascular risk factors were present: central obesity, high blood pressure, low HDL-cholesterol concentration, high triglyceride concentration, and hyperglycaemia. Subjects were categorized based on self-reported daily coffee intake: non-consumers (metabolic syndrome. Moreover, any level of coffee consumption was associated with increased risk of the blood pressure-component. An increasing trend was observed in the eGFR with increasing coffee consumption. In type 1 diabetes, high coffee intake is associated with the metabolic syndrome, and especially its blood pressure-component. Copyright © 2018. Published by Elsevier B.V.

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

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

2012-12-01

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

Hypocretin-1 Levels Associate with Fragmented Sleep in Patients with Narcolepsy Type 1.

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Alakuijala, Anniina; Sarkanen, Tomi; Partinen, Markku

2016-05-01

We aimed to analyze nocturnal sleep characteristics of patients with narcolepsy type 1 (narcolepsy with cataplexy) measured by actigraphy in respect to cerebrospinal fluid hypocretin-1 levels of the same patients. Actigraphy recording of 1-2 w and hypocretin-1 concentration analysis were done to thirty-six unmedicated patients, aged 7 to 63 y, 50% female. Twenty-six of them had hypocretin-1 levels under 30 pg/mL and the rest had levels of 31-79 pg/mL. According to actigraphy, patients with very low hypocretin levels had statistically significantly longer sleep latency (P = 0.033) and more fragmented sleep, indicated by both the number of immobile phases of 1 min (P = 0.020) and movement + fragmentation index (P = 0.049). There were no statistically significant differences in the actual sleep time or circadian rhythm parameters measured by actigraphy. Actigraphy gives additional information about the stabilization of sleep in patients with narcolepsy type 1. Very low hypocretin levels associate with more wake intruding into sleep. © 2016 Associated Professional Sleep Societies, LLC.

Type II congenital pulmonary airway malformation associated with intralobar pulmonary sequestration: report of a case and review of classification criteria.

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Mastrogiulio, M G; Barone, A; Disanto, M G; Ginori, A; Ambrosio, M R; Carbone, S F; Spina, D

2016-03-01

Pulmonary congenital abnormalities are rare disorders including congenital pulmonary airway malformations (CPAM) and pulmonary sequestration (PS). CPAM is a lesion characterized by the presence of anomalous bronchiolar or acinar structures, variable in size, either cystic or not cystic. PS is generally defined as nonfunctioning lung tissue that is not in normal continuity with the tracheobronchial tree and that derives its blood supply from systemic vessels. We describe a case of a baby girl with a very rare association between CPAM type 2 and intralobar pulmonary sequestration (IPS) focusing on the cystic lesions typical of CPAM and on the lymphatic and blood vessels. The cells lining the cysts often were positive for D2-40 (oncofetal protein M2A). Lymphatic endothelial cells, positive for D2-40, were widely present in the lung parenchyma and dilated lymphatic vessels were present also in the inter-alveolar septa. Moreover, we discuss the pathogenesis of CPAM and its classification criteria. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

Solitary Cystic Metastasis Of Thyroid Papillary Carcinoma: Two Cases Reports

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Ozgur Tarkan

2011-02-01

Full Text Available The appearance of a solitary lateral cervical cystic mass as the only initial presenting symptom of occult thyroid carcinoma is uncommon. Its presence is often related with the more frequently branchial cyst in young adults, but also rarely related with thyroid carcinomas. In most of these cases all such lesions may initially be considered as metastatic foci from a primary thyroid lesion. However, an alternative explanation by means of which ectopic thyroid tissue is associated with a branchial cyst has to be considered, especially if no primary tumour is observed in the histological examination of the thyroid gland. We present two case of solitary cystic lymph node metastasis of occult papillary carcinoma of the thyroid. [Cukurova Med J 2011; 36(1.000: 29-33

Solitary Cystic Metastasis Of Thyroid Papillary Carcinoma: Two Cases Reports

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Ozgur Tarkan

2011-03-01

Full Text Available The appearance of a solitary lateral cervical cystic mass as the only initial presenting symptom of occult thyroid carcinoma is uncommon. Its presence is often related with the more frequently branchial cyst in young adults, but also rarely related with thyroid carcinomas. In most of these cases all such lesions may initially be considered as metastatic foci from a primary thyroid lesion. However, an alternative explanation by means of which ectopic thyroid tissue is associated with a branchial cyst has to be considered, especially if no primary tumour is observed in the histological examination of the thyroid gland. We present two case of solitary cystic lymph node metastasis of occult papillary carcinoma of the thyroid. [Cukurova Med J 2011; 36(1: 29-33

Preimplantation genetic diagnosis for cystic fibrosis: a case report

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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

Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation

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Eun Sam Rho

2013-05-01

Full Text Available Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine&#8211;protease inhibitor, Kazal type 1 (SPINK1 , cationic trypsinogen (PRSS1 , and cystic fibrosis&#8211;transmembrane conductance regulator (CFTR genes, or with structural disorders in the pancreaticobiliary ductal system, such as pancreatic divisum or anomalous pancreaticobiliary ductal union (APBDU. However, it is unusual to observe both genetic alteration and structural anomaly. Here, we report 2 cases with both APBDU and a mutation in the SPINK1 genes, and we discuss the implications of these findings in clinical practice.

Co-ordinate regulation of the cystic fibrosis and multidrug resistance genes in cystic fibrosis knockout mice.

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Trezise, A E; Ratcliff, R; Hawkins, T E; Evans, M J; Freeman, T C; Romano, P R; Higgins, C F; Colledge, W H

1997-04-01

The cystic fibrosis (Cftr and multidrug resistance (Mdr1) genes encode structurally similar proteins which are members of the ABC transporter superfamily. These genes exhibit complementary patterns of expression in vivo, suggesting that the regulation of their expression may be co-ordinated. We have tested this hypothesis in vivo by examining Cftr and Mdr1 expression in cystic fibrosis knockout transgenic mice (Cftr(tm1CAM)). Cftr mRNA expression in Cftr(tm1CAM)/Cftr(tm1CAM) mice was 4-fold reduced in the intestine, as compared with littermate wild-type mice. All other Cftr(tm1CAM)/Cftr(tm1CAM) mouse tissues examined showed similar reductions in Cftr expression. In contrast, we observed a 4-fold increase in Mdr1 mRNA expression in the intestines of neonatal and 3- to 4-week-old Cftr(tm1CAM)/Cftr(tm1CAM) mice, as compared with age-matched +/+ mice, and an intermediate level of Mdr1 mRNA in heterozygous Cftr(tm1CAM) mice. In 10-week-old, Cftr(tm1CAM)/Cftr(tm1CAM) mice and in contrast to the younger mice, Mdr1 mRNA expression was reduced, by 3-fold. The expression of two control genes, Pgk-1 and Mdr2, was similar in all genotypes, suggesting that the changes in Mdr1 mRNA levels observed in the Cftr(tm1CAM)/Cftr(tm1CAM) mice are specific to the loss of Cftr expression and/or function. These data provide further evidence supporting the hypothesis that the regulation Cftr and Mdr1 expression is co-ordinated in vivo, and that this co-ordinate regulation is influenced by temporal factors.

Cystic tumors of the pancreas

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Brambs, H.J.; Juchems, M.

2008-01-01

Cystic lesions of the pancreas encompass a broad spectrum of benign, premalignant, and malignant tumors which are primarily cystic or result from cystic necroses of solid neoplasms. Because of the wide use of cross-sectional imaging techniques they are increasingly being identified in asymptomatic patients as well as in patients presenting with abdominal pain, jaundice or pancreatitis. Among these lesions, intraductal papillary mucinous neoplasms, serous cystic neoplasms and mucinous cystic neoplasms represent the majority of cases. With increasing experience with these tumors, a refinement of our understanding of their morphology and of their natural course has emerged. It is important to be familiar with the CT and MR imaging features of these lesions to differentiate these tumors and to orient the diagnosis towards benign or malignant forms. Because characterization of cystic tumors of the pancreas can sometimes be difficult due to overlapping imaging features, additional criteria such as clinical symptoms, localization, age and gender have to be taken into account. If appropriately treated, these tumors can usually be cured by resection and the decreasing risk of pancreatic surgery has led to an increasing number of resections of pancreatic tumors. The management of cystic tumors of the pancreas has not yet been standardized and the correct evaluation and subsequent management of the disease in asymptomatic patients have not been fully defined. (orig.) [de

Higher Mobility Scores in Patients with Cystic Fibrosis Are Associated with Better Lung Function

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Aneesha Thobani

2015-01-01

Full Text Available Objective. The purpose of this study was to determine whether mobility and physical activity were associated with lung function in adults with cystic fibrosis (CF. Design. This was a prospective cohort observational study in an urban, academic, specialized care center. Participants were ambulatory, nonhospitalized adults with CF. Main Outcome Measures. Mobility was assessed monthly by the Life-Space Assessment (LSA questionnaire and quarterly by pedometer. Lung function was assessed by spirometry. Results. Twenty-seven subjects participated. Subjects recorded mean pedometer steps of 20,213 ± 11,331 over three days and FEV1% predicted of 77.48% ± 22.60% over one year. The LSA score at enrollment was correlated with initial pedometer steps (r=0.42 and P=0.03, and mean LSA score over one year was correlated with mean number of steps (r=0.51 and P=0.007. LSA mobility and pedometer scores were correlated with FEV1% predicted at enrollment and throughout the study. Conclusions. Mobility and physical activity measured by LSA questionnaire and pedometer are positively associated with lung function in adults with CF. This study confirms the importance of mobility and physical activity and supports the utility of a simple office-based questionnaire as a measure of mobility in adults with CF.

Higher mobility scores in patients with cystic fibrosis are associated with better lung function.

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Thobani, Aneesha; Alvarez, Jessica A; Blair, Shaina; Jackson, Kaila; Gottlieb, Eric R; Walker, Seth; Tangpricha, Vin

2015-01-01

The purpose of this study was to determine whether mobility and physical activity were associated with lung function in adults with cystic fibrosis (CF). This was a prospective cohort observational study in an urban, academic, specialized care center. Participants were ambulatory, nonhospitalized adults with CF. Mobility was assessed monthly by the Life-Space Assessment (LSA) questionnaire and quarterly by pedometer. Lung function was assessed by spirometry. Twenty-seven subjects participated. Subjects recorded mean pedometer steps of 20,213 ± 11,331 over three days and FEV1% predicted of 77.48% ± 22.60% over one year. The LSA score at enrollment was correlated with initial pedometer steps (r = 0.42 and P = 0.03), and mean LSA score over one year was correlated with mean number of steps (r = 0.51 and P = 0.007). LSA mobility and pedometer scores were correlated with FEV1% predicted at enrollment and throughout the study. Mobility and physical activity measured by LSA questionnaire and pedometer are positively associated with lung function in adults with CF. This study confirms the importance of mobility and physical activity and supports the utility of a simple office-based questionnaire as a measure of mobility in adults with CF.

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

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

2009-01-01

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

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

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

2009-11-01

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

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

Energy Technology Data Exchange (ETDEWEB)

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

2009-01-01

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

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

DEFF Research Database (Denmark)

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

2011-01-01

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

Cystic duct remnant mucocele in a liver transplant recipient

International Nuclear Information System (INIS)

Ahlawat, Sushil K.; Fishbien, Thomas M.; Haddad, Nadim G.

2008-01-01

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

Cystic duct remnant mucocele in a liver transplant recipient

Energy Technology Data Exchange (ETDEWEB)

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

2008-08-15

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

Relevance of 3D Cholangiography and Transient Elastography to Assess Cystic Fibrosis-Associated Liver Disease?

Directory of Open Access Journals (Sweden)

C. Lemaitre

2016-01-01

Full Text Available Background. Cystic fibrosis-associated liver disease (CFLD is a major cause of death. The objective of our retrospective study was to describe the relevance of magnetic resonance imaging (MRI and liver stiffness measurement (LSM for CFLD evaluation. Methods. All cystic fibrosis adult patients evaluated by MRI and LSM were included. MR signs of portal hypertension (PHT, dysmorphia, or cholangitis were collected and LSM expressed in kPa and Metavir. Results. Of 25 patients, 52% had abnormal MRI. Median LSM was 5.7 kPa (3.4–9.9. Three patients had F2 score and one had F3 score. In patients with PHT, LSM was 7.85 kPa (3.7–9.9 compared to 5 (3.4–7.5 in others, p=0.02. In patients with abnormal liver function tests, 50% had increased LSM (≥F2, whereas 94% with normal tests had normal LSM (p=0.04. Seven patients had abnormal MRI despite normal ultrasonography. Conclusions. MRI and LSM provide useful information on CFLD and may help to screen patients with PHT.

The 1-min sit-to-stand test in cystic fibrosis - Insights into cardiorespiratory responses.

Science.gov (United States)

Radtke, Thomas; Hebestreit, Helge; Puhan, Milo A; Kriemler, Susi

2017-11-01

We aimed to characterize the cardiopulmonary response during a 1-min sit-to-stand (STS) test and compare peak exercise cardiorespiratory variables to a maximal cardiopulmonary exercise test (CPET) in cystic fibrosis (CF). We further aimed to assess the validity of the STS power index (Power STS ) as a measure of exercise capacity. Fifteen adult CF patients performed spirometry, CPET and the 1-min STS test with respiratory gas analysis. Peak-exercise cardiorespiratory variables during the 1-min STS test correlated strongly (r=0.69-0.98) with those measured during the CPET. Oxygen uptake, carbon dioxide production, heart rate, ventilation, and tidal volume at peak exercise were 24%, 26%, 9%, 10% and 21% lower in the 1-min STS test, while respiratory frequencies were 14% higher. Power STS showed strong to very strong correlations with CPET-derived absolute peak oxygen uptake and maximal workload. The 1-min STS test elicits a substantial but lower cardiorespiratory response compared to a maximal cycle ergometry CPET. While Power STS and STS repetitions are both valid outcome measures of functional capacity, STS repetitions are clinically more practical. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Clinical impact of chronic obstructive pulmonary disease on non-cystic fibrosis bronchiectasis. A study on 1,790 patients from the Spanish Bronchiectasis Historical Registry.

Directory of Open Access Journals (Sweden)

David De la Rosa

Full Text Available Few studies have evaluated the coexistence of bronchiectasis (BE and chronic obstructive pulmonary disease (COPD in series of patients diagnosed primarily with BE. The aim of this study was to analyse the characteristics of patients with BE associated with COPD included in the Spanish Bronchiectasis Historical Registry and compare them to the remaining patients with non-cystic fibrosis BE.We conducted a multicentre observational study of historical cohorts, analysing the characteristics of 1,790 patients who had been included in the registry between 2002 and 2011. Of these, 158 (8.8% were registered as BE related to COPD and were compared to the remaining patients with BE of other aetiologies.Patients with COPD were mostly male, older, had a poorer respiratory function and more frequent exacerbations. There were no differences in the proportion of patients with chronic bronchial colonisation or in the isolated microorganisms. A significantly larger proportion of patients with COPD received treatment with bronchodilators, inhaled steroids and intravenous antibiotics, but there was no difference in the use of long term oral or inhaled antibiotherapy. During a follow-up period of 3.36 years, the overall proportion of deaths was 13.8%. When compared to the remaining aetiologies, patients with BE associated with COPD presented the highest mortality rate. The multivariate analysis showed that the diagnosis of COPD in a patient with BE as a primary diagnosis increased the risk of death by 1.77.Patients with BE related to COPD have the same microbiological characteristics as patients with BE due to other aetiologies. They receive treatment with long term oral and inhaled antibiotics aimed at controlling chronic bronchial colonisation, even though the current COPD treatment guidelines do not envisage this type of therapy. These patients' mortality is notably higher than that of remaining patients with non-cystic fibrosis BE.

High concentrations of pepsin in bronchoalveolar lavage fluid from children with cystic fibrosis are associated with high interleukin-8 concentrations.

LENUS (Irish Health Repository)

McNally, P

2011-02-01

Gastro-oesophageal reflux is common in children with cystic fibrosis (CF) and is thought to be associated with pulmonary aspiration of gastric contents. The measurement of pepsin in bronchoalveolar lavage (BAL) fluid has recently been suggested to be a reliable indicator of aspiration. The prevalence of pulmonary aspiration in a group of children with CF was assessed and its association with lung inflammation investigated.

Can a Modified Bosniak Classification System Risk Stratify Pediatric Cystic Renal Masses?

Science.gov (United States)

Saltzman, Amanda F; Carrasco, Alonso; Colvin, Alexandra N; Meyers, Mariana L; Cost, Nicholas G

2018-03-20

We characterize and apply the modified Bosniak classification system to a cohort of children with cystic renal lesions and known surgical pathology. We identified all patients at our institution with cystic renal masses who also underwent surgery for these lesions. Patients without available preoperative imaging or pathology were excluded. All radiological imaging was independently reviewed by a pediatric radiologist blinded to pathological findings. Imaging characteristics (size, border, septations, calcifications, solid components, vascularity) were recorded from the most recent preoperative ultrasounds and computerized tomograms. The modified Bosniak classification system was applied to these scans and then correlated with final pathology. A total of 22 patients met study criteria. Median age at surgery was 6.1 years (range 11 months to 16.8 years). Of the patients 12 (54.5%) underwent open nephrectomy, 6 (27.3%) open partial nephrectomy, 2 (9.1%) laparoscopic cyst decortication, 1 (4.5%) open renal biopsy and 1 (4.5%) laparoscopic partial nephrectomy. Final pathology was benign in 9 cases (41%), intermediate in 6 (27%) and malignant in 7 (32%). All malignant lesions were modified Bosniak class 4, all intermediate lesions were modified class 3 or 4 and 8 of 9 benign lesions (89%) were modified class 1 or 2. Cystic renal lesions in children with a modified Bosniak class of 1 or 2 were most often benign, while class 3 or 4 lesions warranted surgical excision since more than 90% of masses harbored intermediate or malignant pathology. The modified Bosniak classification system appears to allow for a reasonable clinical risk stratification of pediatric cystic renal masses. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Congenital cystic masses of the face and neck: CT evaluation

International Nuclear Information System (INIS)

Chung, Hae Gyeong; Kim, Hyung Jin; Kim, Jae Hyoung; Hwang, Eui Gee; Jeon, Sea Young; Kim, Sun Young; Chung, Sung Hoon

1991-01-01

Recognition of the congenital cystic masses of the face and neck is important because they are usually benign, and can be completely cured by surgical excision. We retrospective analyzed CT scan of 18 surgically proven congenital cystic masses of the face and neck. The cases included 5 thyroglossal duct cysts, 4 cystic hygromas, 5 dermoid cysts, 1 branchial cleft cyst, and 3 fissural cysts of the face. Of five cases of thyroglossal duct cysts, CT showed either a well-marginated, rim enhancing unilocular cystic mass (n=3), or a diffuse but heterogeneous highly enhancing soft tissue mass (n=2). The latter two cases were confirmed later as infected thyroglossal duct cysts. Four cases of cystic hygromas were seen as either an irregularly-marginated (n=3) or a well-marginated (n=1) rim enhancing multiseptated cystic mass with a fluid-fluid level. Five cases of dermoid cysts appeared as well-marginated rim enhancing unilocular ovoid masses. The content of each mass was predominantly fluid in four cases, of which additional solid components were found in two, and interspersed fat globules in one. One case was composed of a homogeneous fatty density. One case of branchial cleft cyst was in the anterior triangle near the left mandibular angle, and appeared as a well-marginated enhancing cystic mass with a thick rim. In this case displacement of the adjacent structures was noted also. All three cases of fissural cysts of the face were seen as a well-marginated, rim enhancing cystic mass, causing a smooth pressure erosion of the adjacent bones. We conclude that CT is useful for the evaluation of the congenital cystic masses of the face and neck, because it can differentiate various forms of the congenital lesions and is able to clearly reveal the relation of the mass to the adjacent structures

Congenital cystic masses of the face and neck: CT evaluation

Energy Technology Data Exchange (ETDEWEB)

Chung, Hae Gyeong; Kim, Hyung Jin; Kim, Jae Hyoung; Hwang, Eui Gee; Jeon, Sea Young; Kim, Sun Young; Chung, Sung Hoon [Gyeongsang National University, Jinju (Korea, Republic of)

1991-09-15

Recognition of the congenital cystic masses of the face and neck is important because they are usually benign, and can be completely cured by surgical excision. We retrospective analyzed CT scan of 18 surgically proven congenital cystic masses of the face and neck. The cases included 5 thyroglossal duct cysts, 4 cystic hygromas, 5 dermoid cysts, 1 branchial cleft cyst, and 3 fissural cysts of the face. Of five cases of thyroglossal duct cysts, CT showed either a well-marginated, rim enhancing unilocular cystic mass (n=3), or a diffuse but heterogeneous highly enhancing soft tissue mass (n=2). The latter two cases were confirmed later as infected thyroglossal duct cysts. Four cases of cystic hygromas were seen as either an irregularly-marginated (n=3) or a well-marginated (n=1) rim enhancing multiseptated cystic mass with a fluid-fluid level. Five cases of dermoid cysts appeared as well-marginated rim enhancing unilocular ovoid masses. The content of each mass was predominantly fluid in four cases, of which additional solid components were found in two, and interspersed fat globules in one. One case was composed of a homogeneous fatty density. One case of branchial cleft cyst was in the anterior triangle near the left mandibular angle, and appeared as a well-marginated enhancing cystic mass with a thick rim. In this case displacement of the adjacent structures was noted also. All three cases of fissural cysts of the face were seen as a well-marginated, rim enhancing cystic mass, causing a smooth pressure erosion of the adjacent bones. We conclude that CT is useful for the evaluation of the congenital cystic masses of the face and neck, because it can differentiate various forms of the congenital lesions and is able to clearly reveal the relation of the mass to the adjacent structures.

Radiologic features of cystic, endocrine and other pancreatic neoplasms

International Nuclear Information System (INIS)

Balci, N. Cem; Semelka, Richard C.

2001-01-01

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

Costs, quality of life and treatment compliance associated with antibiotic therapies in patients with cystic fibrosis: a review of the literature.

Science.gov (United States)

Weiner, Jennifer R; Toy, Edmond L; Sacco, Patricia; Duh, Mei Sheng

2008-04-01

Cystic fibrosis is the most common incurable hereditary disease in the US. Persistent respiratory infection is the leading cause of morbidity and mortality in cystic fibrosis patients. This study aimed to review the literature on economic and quality of life outcomes and treatment compliance associated with antibiotic therapies for cystic fibrosis patients. A systematic literature review was conducted using keyword searches of the MEDLINE database and selected conference abstracts. The review covered studies published between January 1990 and May 2007. Evidence suggests that inhaled tobramycin, a key chronic suppressive therapy, can reduce other healthcare costs. The main determinants of the cost of care include disease severity and respiratory infection. Costs vary widely by country. There is evidence that inhaled tobramycin and oral azithromycin improve quality of life and that treatment setting and patient convenience may also impact on quality of life. Antibiotic treatment compliance varied significantly and depended on the method of measurement, with more subjective measures tending to be higher. This review concludes by offering directions for future research.

Anorexia nervosa in cystic fibrosis.

Science.gov (United States)

Linkson, Lynette; Macedo, Patricia; Perrin, Felicity M R; Elston, Caroline M

2018-03-01

This article explores the challenges associated with diagnosing and managing eating disorders such as anorexia nervosa amongst adolescents and adults with cystic fibrosis. It reviews the known risk factors, generic verses disease specific eating disorder risk screening tools and considers the ethical dilemmas associated with critically low body mass indices. A case review is included to illustrate the complexities of managing both conditions in the context of declining respiratory function. Copyright © 2017. Published by Elsevier Ltd.

Epidemiological evaluation regarding the role of cystic fibrosis as a risk factor for child malnutrition.

Science.gov (United States)

Florescu, Laura; Paduraru, Dana Teodora Anton; Mîndru, Dana Elena; Temneanu, Oana Raluea; Petrariu, F D; Matei, Mioara Calipsoana

2014-01-01

Cystic fibrosis (CF) is the most common monogenic autosomal recessive disorder with progressive chronic evolution which is potentially lethal. Poor growth is a characteristic of children suffering from cystic fibrosis. A poor nutritional status is an independent risk factor for inadequate survival in cystic fibrosis and is associated with disease complications. The appropriate nutritional management is an important part of the treatment so that the patient with cystic fibrosis can achieve normal growth and development and maintain the best possible health status. A balanced diet supplemented with snacks high in fat and calories is necessary to increase the caloric intake in children with cystic fibrosis. Children with cystic fibrosis have higher caloric needs than healthy children of the same age and sex. Malnutrition in CF is multifactorial. Cystic fibrosis is a complex multisystem disorder affecting mainly the gastrointestinal tract and respiratory system. In the past, malnutrition was an inevitable consequence of disease progression, leading to poor growth, impaired respiratory muscle function, decreased exercise tolerance and immunological impairment. A positive association between body weight and height and survival has been widely reported. The energy requirements of patients with CF vary widely and generally increase with age and disease severity. Cystic fibrosis remains a paediatric disorder which is often underdiagnosed but which, if therapeutically managed properly (by means of drug therapy as well as by appropriate physiotherapy techniques), can lead to improved quality of life and, thus, to a bigger life expectancy.

Cystic lung disease: a comparison of cystic size, as seen on expiratory and inspiratory HRCT scans

International Nuclear Information System (INIS)

Lee, Ki Nam; Yoon, Seong Kuk; Nam, Kyung Jin; Choi, Seok Jin; Goo, Jin Mo

2000-01-01

To determine the effects of respiration on the size of lung cysts by comparing inspiratory and expiratory high-resolution CT (HRCT) scans. The authors evaluated the size of cystic lesions, as seen on paired inspiratory and expiratory HRCT scans, in 54 patients with Langerhans cell histiocytosis (n = 3), pulmonary lymphangiomyomatosis (n = 4), confluent centrilobular emphysema (n = 9), paraseptal emphysema and bullae (n = 16), cystic bronchiectasis (n = 13), and honeycombing (n = 9). Using paired inspiratory and expiratory HRCT scans obtained at the corresponding anatomic level, a total of 270 cystic lesions were selected simultaneously on the basis of five lesions per lung disease. Changes in lung cyst size observed during respiration were assessed by two radiologists. In a limited number of cases (n = 11), pathologic specimens were obtained by open lung biopsy or lobectomy. All cystic lesions in patients with Langerhans cell histiocytosis, lymphangiomyomatosis, cystic bronchiectasis, honeycombing, and confluent centrilobular emphysema became smaller on expiration, but in two cases of paraseptal emphysema and bullae there was no change. In cases in which expiratory CT scans indicate that cysts have become smaller, cystic lesions may communicate with the airways. To determine whether, for cysts and cystic lesions, this connection does in fact exist, paired inspiratory and expiratory HRCT scans are necessary

Cystic lung disease: a comparison of cystic size, as seen on expiratory and inspiratory HRCT scans

Energy Technology Data Exchange (ETDEWEB)

Lee, Ki Nam; Yoon, Seong Kuk; Nam, Kyung Jin [Donga University College of Medicine, Pusan (Korea, Republic of); Choi, Seok Jin [Inje University College of Medicine, Gimhae (Korea, Republic of); Goo, Jin Mo [Seoul National University College of Medicine, Seoul (Korea, Republic of)

2000-06-01

To determine the effects of respiration on the size of lung cysts by comparing inspiratory and expiratory high-resolution CT (HRCT) scans. The authors evaluated the size of cystic lesions, as seen on paired inspiratory and expiratory HRCT scans, in 54 patients with Langerhans cell histiocytosis (n = 3), pulmonary lymphangiomyomatosis (n = 4), confluent centrilobular emphysema (n = 9), paraseptal emphysema and bullae (n = 16), cystic bronchiectasis (n = 13), and honeycombing (n = 9). Using paired inspiratory and expiratory HRCT scans obtained at the corresponding anatomic level, a total of 270 cystic lesions were selected simultaneously on the basis of five lesions per lung disease. Changes in lung cyst size observed during respiration were assessed by two radiologists. In a limited number of cases (n = 11), pathologic specimens were obtained by open lung biopsy or lobectomy. All cystic lesions in patients with Langerhans cell histiocytosis, lymphangiomyomatosis, cystic bronchiectasis, honeycombing, and confluent centrilobular emphysema became smaller on expiration, but in two cases of paraseptal emphysema and bullae there was no change. In cases in which expiratory CT scans indicate that cysts have become smaller, cystic lesions may communicate with the airways. To determine whether, for cysts and cystic lesions, this connection does in fact exist, paired inspiratory and expiratory HRCT scans are necessary.

[Congenital cystic lung lesions--review of the literature with three clinical cases].

Science.gov (United States)

Slancheva, B; Hitrova, S; Markov, D; Vakrilova, L; Pramatarova, T; Yarukova, N; Brankov, O

2013-01-01

Congenital cystic lung lesions are rare. Mainly affects the lower respiratory patishta.i are congenital cystic malformation and adematozna bronchopulmonary sequestration (BPS). The pathogenesis of the occurrence of these malformations is not clear but they have a common clinical course. In most cases, the anomaly is asymptomatic and occurs with infections of the lung during the first year of life. Currently congenital lung lesions were classified into five types and is considered by most authors. The anomaly is due to the abnormal proliferation of terminal bronchioles accompanied by inhibition of alveolar development between 7-17 weeks, obstructed airway dysplasia and metaplasia of normal lung tissue. Early diagnosis is vital in making a medical decision on how to treat CCAM. Associated with abnormalities of the urinary tract, cardiovascular system, gastrointestinal atresia, diaphragmatic hernia skeletal abnormalities. In pregnancies in which prenatal lung lesions weighs registered necessary series of ultrasound examinations to track finding and using the Doppler to assess how the blood supply of the fault. The clinical presentation of malformations is respiratory distress, respiratory infection, and dyspnea. The use of CT and MRA allows better visualization of the pulmonary lesions. With its combination with arteriography and bronchoscopy are used to differentiate CCAM and pulmonary sequestration. We present three cases with lung lesions were born in Neonatologia clinic at the University Hospital of Obstetrics and Gynecology "Maternity" Sofia for the period 2010-2012 three cases CCAMs type 1, operated by 5 meters after birth with a good final outcome without complications in the postoperative period and lack of pulmonary symptoms up to 1 year after birth.

Cystic degeneration of liver malignancies. Study by US and CT

Energy Technology Data Exchange (ETDEWEB)

Kumada, Takashi; Nakano, Satoshi; Kitamura, Kimio; Watahiki, Hajime; Takeda, Isao

1983-03-01

CT and US were carried out on 81 patients with hepatocellular carcinoma, 20 patients with cholangiocellular carcinoma and 94 patients with metastatic liver cancer. 1) Cystic degeneration was observed in one with hepatocellular carcinoma (1.2%), one with cholangiocellular carcinoma (5.0%) and 12 with metastatic liver cancer (12.8%) by US, but this change was observed in only 5 by CT (1,0,4, respectively). Metastatic liver cancer showed the highest incidence among these tumors. 2) The characteristics of cystic degeneration of the liver tumors were thickened wall and irregularity of the inner surface of the wall. 3) Judging from macroscopic and histopathological findings, liquefactive necrosis in the tumors was shown as ''echoluent'' area. We concluded that cystic degeneration was one of the important findings in metastatic liver cancer and that careful observation by US and CT avoided the confusion with other hepatic cystic diseases.

[Ectasic diffuse vasculopathy of the cerebral arteries associated with neurofibromatosis type 1].

Science.gov (United States)

Bassou, D; Darbi, A; Atmane, M; Jidal, M; Elfenni, J; Amezyane, T; Benameur, M; Elkharras, A

2008-12-01

Type 1 neurofibromatosis is the most common of all the phakomatosis. It is a hereditary neurocutaneous syndrome that may involve any organ or system of the body. Central nervous system lesions are frequent and dominated by neoplasms and nonneoplastic hamartomatous lesions. Craniocerebral vascular abnormalities are relatively rare, most often occlusive or stenotic. The occurring of intracranial aneurysms during the neurofibromatosis type 1 gives rise to the question of the fortuitous aspect or not of this association, especially as the quasi-totality of the reported aneurysms in the literature are sacciform and most often unique. We report an original case of ectasic diffuse vasculopathy of the cerebral arteries associated with neurofibromatosis type 1 in a 43-year-old man presented with seizures.

Cystic fibrosis: a mucosal immunodeficiency syndrome

Science.gov (United States)

Cohen, Taylor Sitarik; Prince, Alice

2013-01-01

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

Ependymoma and Carcinoid Tumor Associated with Ovarian Mature Cystic Teratoma in a Patient with Multiple Endocrine Neoplasia I

Directory of Open Access Journals (Sweden)

Reed Spaulding

2014-01-01

Full Text Available Ovarian teratomas rarely undergo new neoplastic transformation and account for a small percentage of malignant ovarian germ cell neoplasms. Here we report a case of a 51-year-old woman with multiple endocrine neoplasia type I (MEN I who was found to have an ependymoma and neuroendocrine tumor (trabecular carcinoid associated with mature cystic teratoma of her left ovary. The ependymoma component displayed cells with round nuclei and occasional small nucleoli which were focally arranged in perivascular pseudorosettes and true rosettes. Rare mitoses were identified. No necrosis was present. Immunohistochemical staining was positive for S-100 and GFAP. The Ki67 proliferation index was very low (2-3%. In contrast, the endocrine tumor component was composed of small uniform cells with eosinophilic cytoplasm, round nuclei, and speckled chromatin. Immunohistochemical staining was positive for synaptophysin and focally positive for chromogranin. This rare case illustrates that MEN I may have an influence on the pathogenesis of ovarian teratomas as they undergo malignant transformation.

Clinical presentation of metabolic alkalosis in an adult patient with cystic fibrosis.

Science.gov (United States)

Sweetser, Lisel J; Douglas, James A; Riha, Renata L; Bell, Scott C

2005-03-01

In subtropical and tropical climates, dehydration is common in cystic fibrosis patients with respiratory exacerbations. This may lead to a clinical presentation of metabolic alkalosis with associated hyponatraemia and hypochloraemia. An adult cystic fibrosis patient who presented with a severe respiratory exacerbation accompanied by metabolic alkalosis is presented and the effects of volume correction are reported.

Aquagenic keratoderma associated with a mutation of the cystic fibrosis gene

Directory of Open Access Journals (Sweden)

V. Coelho-Macias

2013-05-01

Full Text Available Reported for the first time in 1996, aquagenic keratoderma is a rare condition which is characterized by edematous flat-topped papules appearing on palmar skin after water immersion. Multiple anecdotal associations have been described but, recently, the association with cystic fibrosis gene mutations (CFTR has been highlighted.The authors describe an 18-year-old female, with one-month complaints of pruritus and swelling of palmar skin after water immersion. On examination, palmar skin was unremarkable but, 5 min after water immersion, multiple whitish papules became apparent. CFTR genotype study showed a F508del mutation in one allele (nonhomozygous. She had no other symptoms and no relevant family history.Aquagenic keratoderma is probably an under-diagnosed entity that might represent a manifestation of CFTR mutations, making carrier state identification and genetic counseling possible. Resumo: Descrita em 1996, a acroqueratodermia aquagénica é uma entidade rara, caracterizada pelo aparecimento de pápulas edematosas palmares após contacto com água. Múltiplas associações foram enumeradas mas, recentemente, a associação a mutações do gene da fibrose quística foi demonstrada.Descreve-se o caso de uma mulher de 18 anos, saudável, com prurido e edema palmar após imersão em água. O exame objetivo inicial não mostrava alterações mas, 5 min após imersão em água, observavam-se múltiplas pápulas esbranquiçadas palmares. O estudo do gene da fibrose quística (CFTR revelou uma mutação F508del num dos alelos. A doente negava outras queixas ou história familiar relevante.A acroqueratodermia aquagénica é uma entidade provavelmente subdiagnosticada que poderá constituir uma manifestação de mutações do gene CFTR, o que possibilitaria a identificação de portadores e aconselhamento genético. Keywords: Aquagenic keratoderma, Cystic fibrosis, Genetic counseling, Palavras-chave: Acroqueratodermia aquagénica, Fibrose qu

OK-432 sclerotherapy for benign cystic head and neck lesions

International Nuclear Information System (INIS)

Kim, Chang Hyun; Rho, Myung Ho; Lee, Sang Wook

2003-01-01

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

OK-432 sclerotherapy for benign cystic head and neck lesions

Energy Technology Data Exchange (ETDEWEB)

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

2003-12-01

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

Neonatal cystic fibrosis screening test

Science.gov (United States)

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

Global Analysis of the Fungal Microbiome in Cystic Fibrosis Patients Reveals Loss of Function of the Transcriptional Repressor Nrg1 as a Mechanism of Pathogen Adaptation.

Science.gov (United States)

Kim, Sang Hu; Clark, Shawn T; Surendra, Anuradha; Copeland, Julia K; Wang, Pauline W; Ammar, Ron; Collins, Cathy; Tullis, D Elizabeth; Nislow, Corey; Hwang, David M; Guttman, David S; Cowen, Leah E

2015-11-01

The microbiome shapes diverse facets of human biology and disease, with the importance of fungi only beginning to be appreciated. Microbial communities infiltrate diverse anatomical sites as with the respiratory tract of healthy humans and those with diseases such as cystic fibrosis, where chronic colonization and infection lead to clinical decline. Although fungi are frequently recovered from cystic fibrosis patient sputum samples and have been associated with deterioration of lung function, understanding of species and population dynamics remains in its infancy. Here, we coupled high-throughput sequencing of the ribosomal RNA internal transcribed spacer 1 (ITS1) with phenotypic and genotypic analyses of fungi from 89 sputum samples from 28 cystic fibrosis patients. Fungal communities defined by sequencing were concordant with those defined by culture-based analyses of 1,603 isolates from the same samples. Different patients harbored distinct fungal communities. There were detectable trends, however, including colonization with Candida and Aspergillus species, which was not perturbed by clinical exacerbation or treatment. We identified considerable inter- and intra-species phenotypic variation in traits important for host adaptation, including antifungal drug resistance and morphogenesis. While variation in drug resistance was largely between species, striking variation in morphogenesis emerged within Candida species. Filamentation was uncoupled from inducing cues in 28 Candida isolates recovered from six patients. The filamentous isolates were resistant to the filamentation-repressive effects of Pseudomonas aeruginosa, implicating inter-kingdom interactions as the selective force. Genome sequencing revealed that all but one of the filamentous isolates harbored mutations in the transcriptional repressor NRG1; such mutations were necessary and sufficient for the filamentous phenotype. Six independent nrg1 mutations arose in Candida isolates from different patients

Breakdown in Breathing: The Complexities of Cystic Fibrosis

Science.gov (United States)

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

Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes

DEFF Research Database (Denmark)

Magnus, Maria C; Olsen, Sjurdur F; Granstrom, Charlotta

2018-01-01

100 000 person-years in MoBa and 28.5 per 100 000 person-years in DNBC. Both maternal pre-pregnancy obesity, adjusted hazard ratio (HR) 1.41 [95% confidence interval (CI): 1.06, 1.89] and paternal obesity, adjusted HR 1.51 (95% CI: 1.11, 2.04), were associated with childhood-onset type 1 diabetes......Background: Our objective was to examine the associations of parental body mass index (BMI) and maternal gestational weight gain with childhood-onset type 1 diabetes. Comparing the associations of maternal and paternal BMI with type 1 diabetes in the offspring will provide further insight...... included parental BMI and maternal gestational weight gain obtained by maternal report. We used Cox-proportional hazards regression to examine the risk of type 1 diabetes (n=499 cases), which was ascertained by national childhood diabetes registers. Results: The incidence of type 1 diabetes was 32.7 per...

CT diagnosis of cystic echinococcosis in pelvis

International Nuclear Information System (INIS)

Liu Wenya; Li Li; Xing Yan; Xie Jingxia

2003-01-01

Objective: To analyze the CT findings of pelvic cystic echinococcosis, and to assess the value of CT examination. Methods: Twenty-one cases of pelvic cystic echinococcosis, confirmed by clinical and pathological results, underwent CT scanning. CT characters were analyzed and compared with pathology. Results: Simple cystic echinococcosis appeared as single or multiple cystic lesions with round or oval shape, smooth boundary, and no enhancement after contrast medium administration in 3 cases; Different number and size of daughter cysts were detected inside the lesion in 17 cases; Ruptured lesions showed 'double wall', 'water snake', or 'flow ribbon' signs in 4 cases; Increase density of contents and enhanced cystic wall were demonstrated in 2 cases with companied infections. In 8 cases, calcification occurred on the cystic wall or extended inside the content. Conclusion: CT could accurately demonstrate the location, appearance, internal structure, and adjacent situation of the cystic echinococcosis, providing valuable information for correct diagnosis and treatment

Phosphorus-32 therapy for cystic craniopharyngiomas

International Nuclear Information System (INIS)

Barriger, Robert Bryan; Chang, Andrew; Lo, Simon S.; Timmerman, Robert D.; DesRosiers, Colleen; Boaz, Joel C.; Fakiris, Achilles J.

2011-01-01

Background and purpose: To examine control rates for predominantly cystic craniopharyngiomas treated with intracavitary phosphorus-32 (P-32). Material and methods: 22 patients with predominantly cystic craniopharyngiomas were treated at Indiana University between October 1997 and December 2006. Nineteen patients with follow-up of at least 6 months were evaluated. The median patient age was 11 years, median cyst volume was 9 ml, a median dose of 300 Gy was prescribed to the cyst wall, and median follow-up was 62 months. Results: Overall cyst control rate after the initial P-32 treatment was 67%. Complete tumor control after P-32 was 42%. Kaplan-Meier 1-, 3-, and 5-year initial freedom-from-progression rates were 68%, 49%, and 31%, respectively. Following salvage therapy, the Kaplan-Meier 1-, 3-, and 5-year ultimate freedom-from-progression rates were 95%, 95%, and 86%, respectively. All patients were alive at the last follow-up. Visual function was stable or improved in 81% when compared prior to P-32 therapy. Pituitary function remained stable in 74% of patients following P-32 therapy. Conclusions: Intracystic P-32 can be an effective and tolerable treatment for controlling cystic components of craniopharyngiomas as a primary treatment or after prior therapies, but frequently allows for progression of solid tumor components. Disease progression in the form of solid tumor progression, re-accumulation of cystic fluid, or development of new cysts may require further radiotherapy or surgical intervention for optimal long-term disease control.

Progressive multiple cystic changes in both lungs in a patient treated with gefitinib for lung adenocarcinoma with multiple lung metastases

International Nuclear Information System (INIS)

Ryu, Yon Ju; Chun, Eun Mi; Lee, Soon Nam; Shim, Sung Shin

2014-01-01

Gefitinib is regarded as a relatively safe agent for the treatment of an advanced non-small cell lung cancer (NSCLC). Pulmonary toxicity such as interstitial lung disease associated with gefitinib is uncommon with an estimated all time incidence around 1% worldwide. Moreover, a case of gefitinib associated with pulmonary cystic changes has not been reported yet. In this report we present a case of progressive multiple air cystic changes in both lungs in a patient with NSCLC and intrapulmonary metastases who underwent a gefitinib therapy.

Diagnosis of cystic fibrosis

NARCIS (Netherlands)

H.J. Veeze

1995-01-01

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

Genetic modifiers of nutritional status in cystic fibrosis1234

OpenAIRE

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

2012-01-01

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

Pathological and clinical features of cystic and noncystic glioblastomas

International Nuclear Information System (INIS)

Utsuki, Satoshi; Oka, Hidehiro; Suzuki, Sachio; Shimizu, Satoru; Tanizaki, Yoshinori; Kondo, Koji; Fujii, Kiyotaka; Tanaka, Satoshi; Kawano, Nobuyuki

2006-01-01

The aim of this study is to review the different histological and clinical characteristics of glioblastoma multiforme (GBM) with and without cysts (cystic and noncystic GBM, respectively). Thirty-seven GBM were collected; these were tumors for which more than 80% of the volume was surgically resected, including a portion of the peripheral parenchyma of the brain. Based on preoperative magnetic resonance (MR) imaging studies, tumors were tentatively classified as cystic GBM if more than 50% of their volume appeared to be liquid; otherwise, they were considered to be noncystic GBM. Tumor volumes were estimated from contrast-enhanced T 1 -weighted MR images. Edema was deduced from the maximum width of contrast-enhanced edges. Peritumoral pathological analysis showed distinct margins, indicating little or no infiltration of tumor cells into white matter. Five cases were classified as cystic and 32 were noncystic GBMs. There was a statistically significant difference in age (Mann-Whitney U test; P<0.05) between the patients with cystic tumors (median, 44 years; range, 26-59 years) and those with noncystic tumors (median, 54 years; range, 26-81 years). Four of the cystic tumors and eight of the noncystic tumors were more than 5 cm in maximum diameter. Cystic GBMs had a well-defined tumor interface and less than 2-cm-thick peritumoral edema compared to the noncystic GBMs (Fisher's exact test; P<0.05). For patients with cystic GBMs, median survival time after surgery was 19.8 months and the 2-year survival rate was 50%. Patients with noncystic GBMs had a median survival time of 12.8 months and a 2-year survival rate of only 17%. Median time to tumor recurrence was 13.3 months for patients harboring cystic GBMs and 8.5 months for those with noncystic GBMs (log-rank test; P<0.05). Thus, the prognosis for cystic GBM was significantly better than that for noncystic GBM, possibly because cystic GBMs showed comparatively little infiltration of the peritumoral brain parenchyma

Voice Disorder in Cystic Fibrosis Patients

Science.gov (United States)

Lourenço, Bruna Mendes; Costa, Kauê Machado; da Silva Filho, Manoel

2014-01-01

Cystic fibrosis is a common autosomal recessive disorder with drastic respiratory symptoms, including shortness of breath and chronic cough. While most of cystic fibrosis treatment is dedicated to mitigating the effects of respiratory dysfunction, the potential effects of this disease on vocal parameters have not been systematically studied. We hypothesized that cystic fibrosis patients, given their characteristic respiratory disorders, would also present dysphonic symptoms. Given that voice disorders can severely impair quality of life, the identification of a potential cystic fibrosis-related dysphonia could be of great value for the clinical evaluation and treatment of this disease. We tested our hypothesis by measuring vocal parameters, using both objective physical measures and the GRBAS subjective evaluation method, in male and female cystic fibrosis patients undergoing conventional treatment and compared them to age and sex matched controls. We found that cystic fibrosis patients had a significantly lower vocal intensity and harmonic to noise ratio, as well as increased levels of jitter and shimmer. In addition, cystic fibrosis patients also showed higher scores of roughness, breathiness and asthenia, as well as a significantly altered general grade of dysphonia. When we segregated the results according to sex, we observed that, as a group, only female cystic fibrosis patients had significantly lower values of harmonic to noise ratio and an abnormal general grade of dysphonia in relation to matched controls, suggesting that cystic fibrosis exerts a more pronounced effect on vocal parameters of women in relation to men. Overall, the dysphonic characteristics of CF patients can be explained by dysfunctions in vocal fold movement and partial upper airway obstruction, potentially caused by the accumulation of mucus and chronic cough characteristic of CF symptomatology. Our results show that CF patients exhibit significant dysphonia and suggest they may

Renal cystic disease: A practical overview

International Nuclear Information System (INIS)

Hartman, D.S.

1987-01-01

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

Molecular mechanisms of fluoroquinolone resistance in Pseudomonas aeruginosa isolates from cystic fibrosis patients

DEFF Research Database (Denmark)

Jalal, S; Ciofu, O; Høiby, Niels

2000-01-01

Twenty P. aeruginosa isolates were collected from six cystic fibrosis (CF) patients, aged 27 to 33, in 1994 (9 isolates) and 1997 (11 isolates) at the CF Center, Copenhagen, Denmark, and were typed by pulse-field gel electrophoresis (PFGE) or ribotyping. Five of the patients had isolates with the......Twenty P. aeruginosa isolates were collected from six cystic fibrosis (CF) patients, aged 27 to 33, in 1994 (9 isolates) and 1997 (11 isolates) at the CF Center, Copenhagen, Denmark, and were typed by pulse-field gel electrophoresis (PFGE) or ribotyping. Five of the patients had isolates...

Association between type 1 diabetes mellitus and deposits in the semicircular canals.

Science.gov (United States)

Yoda, Shigetoshi; Cureoglu, Sebahattin; Yildirim-Baylan, Muzeyyen; Morita, Norimasa; Fukushima, Hisaki; Harada, Tamotsu; Paparella, Michael M

2011-09-01

To compare the prevalence of cupular and free-floating deposits in the semicircular canals between temporal bones of type 1 diabetes mellitus patients and normal controls. Case-control histopathologic human temporal bone study. Otopathology laboratory in a tertiary academic medical center. Twenty-eight temporal bones from 14 patients with type 1 diabetes mellitus and 56 normal temporal bones from 28 age-matched individuals were histopathologically examined. The cupula and lumina of the semicircular canals were examined for evidence of deposits. The prevalence of cupular and free-floating deposits in the lateral and posterior semicircular canals was significantly higher in type 1 diabetes mellitus patients compared with normal temporal bones (lateral, cupular deposits, odds ratio [OR], 5.47; 95% confidence interval [CI], 1.43 to 21.02; free-floating deposits, OR, 8.25; 95% CI, 2.42 to 27.85; posterior, cupular deposits, OR, 41.73; 95% CI, 5.96 to 275.50; free-floating deposits, OR, 7.44; 95% CI, 1.91 to 28.53). The prevalence of these deposits was associated with the duration of disease rather than with aging. The findings suggest that type 1 diabetes mellitus is associated with cupular and free-floating deposits in the semicircular canals. The patients with type 1 diabetes mellitus with a longer duration of disease have an increased probability of suffering from benign paroxysmal positional vertigo.

Rapidly Evoluting Congenital Cystic Neuroblastoma in a Neonate

Energy Technology Data Exchange (ETDEWEB)

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

2012-08-15

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

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

Science.gov (United States)

2013-01-01

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

Identification of novel risk genes associated with type 1 diabetes mellitus using a genome-wide gene-based association analysis.

Science.gov (United States)

Qiu, Ying-Hua; Deng, Fei-Yan; Li, Min-Jing; Lei, Shu-Feng

2014-11-01

Type 1 diabetes mellitus is a serious disorder characterized by destruction of pancreatic β-cells, culminating in absolute insulin deficiency. Genetic factors contribute to the susceptibility of type 1 diabetes mellitus. The aim of the present study was to identify more susceptibility genes of type 1 diabetes mellitus. We carried out an initial gene-based genome-wide association study in a total of 4,075 type 1 diabetes mellitus cases and 2,604 controls by using the Gene-based Association Test using Extended Simes procedure. Furthermore, we carried out replication studies, differential expression analysis and functional annotation clustering analysis to support the significance of the identified susceptibility genes. We identified 452 genes associated with type 1 diabetes mellitus, even after adapting the genome-wide threshold for significance (P diabetes mellitus, which were ignored in single-nucleotide polymorphism-based association analysis and were not previously reported. We found that 53 genes have supportive evidence from replication studies and/or differential expression studies. In particular, seven genes including four non-human leukocyte antigen (HLA) genes (RASIP1, STRN4, BCAR1 and MYL2) are replicated in at least one independent population and also differentially expressed in peripheral blood mononuclear cells or monocytes. Furthermore, the associated genes tend to enrich in immune-related pathways or Gene Ontology project terms. The present results suggest the high power of gene-based association analysis in detecting disease-susceptibility genes. Our findings provide more insights into the genetic basis of type 1 diabetes mellitus.

Uneven Distribution of Regional Blood Supply Prompts the Cystic Change of Pituitary Adenoma.

Science.gov (United States)

Zhang, Jianhe; Gu, Jianjun; Ma, Yiming; Huang, Yinxing; Wang, Jiaxing; Wu, Zhifeng; Zhong, Qun; Wang, Shousen

2017-07-01

Previous studies have suggested that the cystic change of pituitary adenoma might be related to the blood supply and metabolism of the tumor; however, the exact pathologic mechanism underlying the cystic change remains unknown. We aimed to assess the features of regional blood supply of pituitary adenoma and examine its relationship with the cystic change of pituitary adenoma. Patients (N = 79) with pituitary adenoma admitted to our hospital were divided into the parenchyma group (n = 40) or the cystic change group (n = 39). Dynamic contrast-enhanced magnetic resonance imaging of the pituitary adenoma was conducted for the parenchyma group and the steepest slopes (SS max , reflecting regional blood supply) at different areas were calculated. The location of cystic change of the pituitary adenoma was recorded and analyzed for the cystic change group. The parenchyma group showed an upper SS max of 2.52 ± 1.18, a lower SS max of 2.89 ± 1.46, a left SS max of 2.71 ± 1.31, and a right SS max of 2.66 ± 1.29. The difference between the upper and lower SS max was statistically significant (P supply is unevenly distributed in the parenchymal pituitary adenoma, with reduced blood supply in the upper than the lower region. Cystic change mainly occurs in the upper region of pituitary adenoma. Copyright © 2017 Elsevier Inc. All rights reserved.

Differential Diagnosis of Cystic Lymphangioma of the Pancreas Based on Imaging Features

Directory of Open Access Journals (Sweden)

Ting-Kai Leung

2006-01-01

Full Text Available Lymphangioma is a benign tumor, which is a consequence of lymphatic malformation with blockage of lymphatic flow. Most lymphangiomas occur in the neck and axillary region, and < 1% occur in the mesentery or retroperitoneum. Lymphangiomas arising from the pancreas are extremely rare. We report the case of a 34-year-old woman with cystic lymphangioma of the pancreas without major symptoms or signs. A 6 × 6 cm intra-abdominal cystic mass was incidentally revealed by sonography during a health examination. It is always a challenge to differentiate the lesion from other possible cystic-like pancreatic neoplasms. Differential diagnosis of cystic lymphangioma from other cystic-like tumors of the pancreas can be performed based on their imaging characteristics, including presence of septa, cystic or wall calcification, soft tissue, wall thickness, single or multiple loculation, and dilatation of the pancreatic duct. Post-gadolinium magnetic resonance imaging is excellent in defining the origin of intra-abdominal cystic mass and intracystic septa.

Lyophilized allogeneic bone grafts for cystic and discontinuity defects of the jaws

International Nuclear Information System (INIS)

Pill Hoon Choung; Eun Seok Kim

1999-01-01

Allogenic bone grafts have been used after various processing in each institute was made by lyophilized allogenic bone and used for maxillofacial reconstruction. Three types of lyophilized allogenic bone grafts as powder, chip and block form were performed to reconstruct the following defects: 1) maxillectomy, 2) mandiblectomy, 3) cystectomy, 4) cleft alveolus, 5) gap in orthognathic osteotomy, 6) peri-implant defect, 7) extraction socket, and 8) facial contouring. Above defects can be classified as cystic and discontinuity defects of the maxilia and the mandible. Because discontinuity defects have more difficult problems to reconstruct considering mechanical strength of the allogenic bone. We performed allogenic bone grafts on 50 cystic defects and 12 discontinuity defects of the jaws. Among them, 3 cases were removed due to infection, and the others had no complications. In reconstruction of cystic defects, the defects were filled with allogenic chip which were made from allogenic block bone at the surgery, which later were changed to host bone. Three cases of them showed tooth eruption through the allogenic bone grafting site, changing the eruption pathway, which was interrupted by the lesion. in reconstruction of discontinuity defects, usually allogenic bone has been used as a tray, in which PMCB or demineralized bone chips were filled. But we tried to reconstruct this discontinuity defect using allogeneic bone block without inside filling of PMCB different from tray type. We will present the results of allogenic bone grafts using cranial bone, costochondral graft, and the mandible

Enterovirus RNA in Peripheral Blood May Be Associated with the Variants of rs1990760, a Common Type 1 Diabetes Associated Polymorphism in IFIH1

Science.gov (United States)

Cinek, Ondrej; Tapia, German; Witsø, Elisabet; Kramna, Lenka; Holkova, Katerina; Rasmussen, Trond; Stene, Lars C.; Rønningen, Kjersti S.

2012-01-01

Objective Polymorphisms in the IFIH1 (common rs1990760 and four rare rs35667974, rs35337543, rs35744605, rs35732034) have been convincingly associated with type 1 diabetes. The encoded protein (interferon-induced helicase C domain-containing protein 1) senses double-stranded RNA during replication of Picornavirales, including Enterovirus, a genus suspected in the etiology of type 1 diabetes. We therefore investigated whether the polymorphisms are associated with differences in the frequency of enterovirus RNA in blood. Research Design and Methods The study included 1001 blood samples, each from a child participating in the Norwegian ‘Environmental Triggers of Type 1 Diabetes: the MIDIA study’. The enterovirus RNA was tested using qualitative semi-nested real-time reverse transcriptase PCR on RNA extracted from frozen cell packs after removal of plasma. Stool samples previously analyzed for enterovirus RNA were available in 417 children. Results The genotypes of IFIH1 rs1990760 were associated with different frequencies of enterovirus RNA in blood (7.0%, 14.4% and 9.5% bloods were enterovirus positive among children carrying the Ala/Ala, Ala/Thr and Thr/Thr genotypes, respectively, p = 0.012). This association remained essentially unchanged after adjustment for age and calendar year. The presence of enterovirus in the concomitantly sampled stool further increased the likelihood of enterovirus RNA in blood (odds ratio 2.40, CI 95% 1.13–4.70), but did not affect the association with IFIH1 rs1990760. The rare polymorphisms (individually, or pooled) were not significantly associated with enterovirus RNA in blood. Conclusions The common IFIH1 SNP may modify the frequency of enterovirus RNA in blood of healthy children. This effect can help explain the association of IFIH1 with type 1 diabetes. PMID:23144876

Recombinant human DNase I reduces the viscosity of cystic fibrosis sputum.

Science.gov (United States)

Shak, S; Capon, D J; Hellmiss, R; Marsters, S A; Baker, C L

1990-12-01

Respiratory distress and progressive lung destruction in cystic fibrosis can be attributed to bacterial persistence and the accumulation of viscous purulent secretions in the airways. More than 30 yr ago it was suggested that the large amounts of DNA in purulent secretions contribute to its viscosity and that bovine pancreatic DNase I could reduce the viscosity. To evaluate the potential clinical utility of recombinant human DNase I (rhDNase) in the treatment of cystic fibrosis, we have cloned, sequenced, and expressed rhDNase. Catalytic amounts of rhDNase greatly reduce the viscosity of purulent cystic fibrosis sputum, transforming it within minutes from a nonflowing viscous gel to a flowing liquid. The reduction in viscosity is associated with a decrease in size of DNA in the sputum. Inhalation of a rhDNase aerosol may be a simple direct approach that will help individuals with cystic fibrosis and other patients with pneumonia or bronchitis to clear their airways of purulent secretions.

Gastrointestinal Manifestations of Cystic Fibrosis

Science.gov (United States)

2016-01-01

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

Evaluation of magnetization transfer ratio in ascites and pelvic cystic masses

Energy Technology Data Exchange (ETDEWEB)

Okada, Susumu [Nippon Medical School, Inba, Chiba (Japan). Chiba-Hokuso Hospital; Kato, Tomoyasu; Yamashita, Takashi [and others

1997-12-01

To investigate the feasibility of magnetization transfer contrast (MTC) in characterization of pelvic cystic masses and ascites, in vitro studies were performed. Cystic fluids were taken from operative specimens of ten ovarian cystic masses (five mucinous cystadenomas, one cystadenocarcinoma, two serous cystadenocarcinomas, two clear cell carcinomas) and three non-ovarian pelvic cysts (one paraovarian cyst, one pseudomyxoma peritonei, one pelvic abscess). Samples of ascitic flied were drawn by peritoneal puncture in twenty patients (thirteen with peritonitis carcinomatosa, five with liver dysfunction, two with renal dysfunction). Total protein content in ascitic fluids was measured. Magnetization transfer ratio (MTR) was calculated by the signal intensities under the gradient echo sequence with and without the application of off-resonance pulses. The relative signal intensities (RSI) relative to water in T{sub 1} and T{sub 2} weighted images were obtained using spin echo sequence. There was no correlation between histological type of pelvic mass and MTR and RSI. Good correlation (R{sup 2}=0.761) was obtained between MTR and protein content in ascitic fluids, whereas no correlation was noted between RSI and protein content in ascitic fluids. These results suggest that MTC is not useful in the characterization of pelvic masses but is applicable in the differentiation between exudative ascites and transudative ascites. (author)

The cystic-fibrosis-associated ΔF508 mutation confers post-transcriptional destabilization on the C. elegans ABC transporter PGP-3

Directory of Open Access Journals (Sweden)

Liping He

2012-11-01

Membrane proteins make up ∼30% of the proteome. During the early stages of maturation, this class of proteins can experience localized misfolding in distinct cellular compartments, such as the cytoplasm, endoplasmic reticulum (ER lumen and ER membrane. ER quality control (ERQC mechanisms monitor folding and determine whether a membrane protein is appropriately folded or is misfolded and warrants degradation. ERQC plays crucial roles in human diseases, such as cystic fibrosis, in which deletion of a single amino acid (F508 results in the misfolding and degradation of the cystic fibrosis transmembrane conductance regulator (CFTR Cl– channel. We introduced the ΔF508 mutation into Caenorhabditis elegans PGP-3, a 12-transmembrane ABC transporter with 15% identity to CFTR. When expressed in intestinal epithelial cells, PGP-3wt was stable and efficiently trafficked to the apical plasma membrane through a COPII-dependent mechanism. However, PGP-3ΔF508 was post-transcriptionally destabilized, resulting in reduced total and apical membrane protein levels. Genetic or physiological activation of the osmotic stress response pathway, which causes accumulation of the chemical chaperone glycerol, stabilized PGP-3ΔF508. Efficient degradation of PGP-3ΔF508 required the function of several C. elegans ER-associated degradation (ERAD homologs, suggesting that destabilization occurs through an ERAD-type mechanism. Our studies show that the ΔF508 mutation causes post-transcriptional destabilization and degradation of PGP-3 in C. elegans epithelial cells. This model, combined with the power of C. elegans genetics, provides a new opportunity to genetically dissect metazoan ERQC.

Association between body composition and pulmonary function in children and young people with cystic fibrosis.

Science.gov (United States)

Calella, Patrizia; Valerio, Giuliana; Thomas, Matt; McCabe, Helen; Taylor, Jake; Brodlie, Malcolm; Siervo, Mario

2018-04-01

Body mass index (BMI) has significant limitations when assessing nutritional status in pediatric patients with cystic fibrosis (CF). We evaluated whether measurements of lean body mass (LBM) and fat mass (FM) are more sensitive nutritional parameters by testing their association with pulmonary function in adolescent patients with CF. Sixty-nine male and female adolescents with CF were studied (age: 14.5 ± 2.3, BMI: 19.5 ± 2.3 kg/m 2 ). Dual-energy x-ray absorptiometry (DXA) was used to measure total and segmental (appendicular, truncal) body composition (FM, LBM bone mineral density, and content) as routine care to monitor bone health. Correlation and multiple regression analyses were performed to assess the association among body composition variables and forced expiratory volume in 1 s (FEV 1 ). We also evaluated the influence of the F508del mutation on body composition. FEV 1 was significantly associated with total (r = 0.68, P LBM, whereas it was not associated with total (r = 0.02, P = 0.89) and truncal (r = 0.04, P = 0.77) FM. BMI had a significant but weaker correlation with FEV 1 (r = 0.52, P LBM. LBM was the only significant predictor of FEV 1 in fully adjusted regression models. LBM is a significant predictor of pulmonary function in CF adolescent patients. DXA scanning performed as part of routine bone health monitoring in CF can provide important body composition data relevant to clinical interventions that optimize nutritional status. DXA reference data for LBM in non-adult populations are needed to enhance diagnostic assessment and monitor clinical progression of CF. Copyright © 2017 Elsevier Inc. All rights reserved.

An antisense peptide nucleic acid against Pseudomonas aeruginosa inhibiting bacterial-induced inflammatory responses in the cystic fibrosis IB3-1 cellular model system

DEFF Research Database (Denmark)

Montagner, Giulia; Bezzerri, Valentino; Cabrini, Giulio

2017-01-01

of the essential acpP gene of P. aeruginosa, and previously shown to inhibit bacterial growth, concomitantly also strongly inhibits induced up-regulation of the pro-inflammatory markers IL-8, IL-6, G-CSF, IFN-γ, IP-10, MCP-1 and TNF-α in IB3-1 cystic fibrosis cells infected by P. aeruginosa PAO1. Remarkably...... are significant considering the key role of this protein in the cystic fibrosis inflammatory process exacerbated by P. aeruginosa infection....

Aquagenic Wrinkling of the Palms in Patients with Cystic Fibrosis

DEFF Research Database (Denmark)

Kaiser, H; Brustad, N; Pressler, T

2018-01-01

Aquagenic wrinkling of the palms (AWP) is a condition characterized by oedema, confluent white papules and excessive wrinkling of the palms after few minutes exposure to water. The phenomenon may be associated with pain, numbness and pruritus1,2. It was first noticed and described in 1974 in chil...... in children with cystic fibrosis (CF) by a paediatrician R.B. Elliott3. This article is protected by copyright. All rights reserved....

Stereotactic intracavitary brachytherapy with P-32 for cystic craniopharyngiomas in children

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Maarouf, Mohammad; El Majdoub, Faycal [University Hospital of Cologne, Department of Stereotaxy and Functional Neurosurgery, Cologne (Germany); University of Witten/Herdecke, Department of Stereotaxy and Functional Neurosurgery, Center of Neurosurgery, Cologne-Merheim Medical Center (CMMC), Cologne (Germany); Fuetsch, Manuel [University Hospital of Munich, Department of Neurosurgery, Munich (Germany); Hoevels, Mauritius [University Hospital of Cologne, Department of Stereotaxy and Functional Neurosurgery, Cologne (Germany); Lehrke, Ralph [St. Barbara-Klinik Hamm-Heessen, Department of Stereotaxy and Functional Neurosurgery, Hamm (Germany); Berthold, Frank [University Hospital of Cologne, Department Pediatric Oncology, Cologne (Germany); Voges, Juergen [University Hospital of Magdeburg, Department of Stereotaxy and Functional Neurosurgery, Magdeburg (Germany); Sturm, Volker [University Hospital of Cologne, Department of Stereotaxy and Functional Neurosurgery, Cologne (Germany); University Hospital of Wurzburg, Department of Neurosurgery, Wuerzburg (Germany)

2016-03-15

Although microsurgery remains the first-line treatment, gross total resection of cystic craniopharyngeomas (CP) is associated with significant morbidity and mortality and the addition of external irradiation to subtotal resection proves to achieve similar tumor control. However, concern regarding long-term morbidity associated with external irradiation in children still remains. With this retrospective analysis, the authors emphasize intracavitary brachytherapy using phosphorus-32 (P-32) as a treatment option for children with cystic CP. Between 1992 and 2009, 17 children (median age 15.4 years; range 7-18 years) with cystic CP underwent intracavitary brachytherapy using P-32. Eleven patients were treated for recurrent tumor cysts; 6 patients were treated primarily. MR imaging revealed solitary cysts in 7 patients; 10 patients had mixed solid-cystic lesions (median tumor volume 11.1 ml; range 0.5-78.9 ml). The median follow-up time was 61.9 months (range 16.9-196.6 months). Local cyst control could be achieved in 14 patients (82 %). Three patients showed progression of the treated cystic formation (in-field progression) after a median time of 8.3 months (range 5.3-10.3 months), which led to subsequent interventions. The development of new, defined cysts and progression of solid tumor parts (out-of-field progression) occurred in 5 patients and led to additional interventions in 4 cases. There was neither surgery-related permanent morbidity nor mortality in this study. The overall progression-free survival was 75, 63, and 52 % after 1, 3, and 5 years, respectively. Intracavitary brachytherapy using P-32 represents a safe and effective treatment option for children harboring cystic CP, even as primary treatment. However, P-32 does not clearly affect growth of solid tumor parts or the development of new cystic formations. (orig.) [German] Obwohl die Mikrochirurgie die Methode der Wahl darstellt, ist die komplette Resektion zystischer Kraniopharyngeome haeufig mit einer

Depression is associated with the metabolic syndrome among patients with type 1 diabetes.

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Ahola, Aila J; Thorn, Lena M; Saraheimo, Markku; Forsblom, Carol; Groop, Per-Henrik

2010-10-01

Both depression and the metabolic syndrome are frequently found among patients with type 1 diabetes, but their potential association has not yet been investigated. In this paper the relationship between depression and the metabolic syndrome among patients with type 1 diabetes was evaluated. A total of 1226 patients participating in the Finnish Diabetic Nephropathy Study between 2003 and 2009 were included. Depression was defined as use of antidepressive medication or Beck Depression Inventory (BDI) score ≥16. The metabolic syndrome was defined using the criteria established by the International Diabetes Federation Task Force on Epidemiology and Prevention (IDF); National Heart, Lung, and Blood Institute (NHLBI); American Heart Association (AHA); World Heart Federation (WHF); International Atherosclerosis Society (IAS); and International Association for the Study of Obesity (IASO). The metabolic syndrome was more frequently observed among depressed patients (57% versus 46%, P = 0.008). Of the individual components of the metabolic syndrome, waist, triglyceride, and HDL components were more frequently fulfilled among patients with depression. The BDI score increased with the number of components of the metabolic syndrome present. The BDI score was independently associated with the waist component (odds ratio 1.03, 95% confidence interval 1.01-1.05) when adjusted for gender, age, socio-economic status, smoking, nephropathy, and HbA(1c). The metabolic syndrome is frequently found among depressed patients with type 1 diabetes. Whether this association influences the development of diabetic complications is not known.

Possibilities of computed bronchophonography in the diagnosis of external respiratory dysfunction in patients with cystic fibrosis

Directory of Open Access Journals (Sweden)

E. B. Pavlinova

2016-01-01

Full Text Available The degree of respiratory organ injury in cystic fibrosis determines the prognosis of the disease. Objective: to evaluate external respiratory function in children with cystic fibrosis. The study enrolled 48 children followed up at the Omsk Cystic Fibrosis Center. A control group consisted of 42 non-addicted smoking children with no evidence for respiratory diseases in the history. External respiratory function was evaluated using computed bronchophonography; spirography was additionally carried out in children over 6 years of age. Computed bronchophonography revealed obstructive respiratory failure in all children with severe cystic fibrosis. Chronic respiratory tract infection with Pseudomonas aeruginosa and bronchiectasis were associated with the higher values of the acoustic work of breathing at frequencies over 5000 Hz. It was established that there was a moderate negative correlation between the value of the acoustic work of breathing in the high frequency range and the forced expiratory volume in 1 second in %. Conclusion. Computed bronchophonography could reveal obstructive external respiratory dysfunction in children less than 6 years of age. 

Ursodeoxycholic acid treatment is associated with improvement of liver stiffness in cystic fibrosis patients.

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van der Feen, Cathelijne; van der Doef, Hubert P J; van der Ent, Cornelis K; Houwen, Roderick H J

2016-11-01

Ursodeoxycholic acid (UDCA) might prevent progression of cystic fibrosis liver disease, but objective parameters for its effect are lacking. We used liver stiffness measurements to evaluate the effect of Ursodeoxycholic acid. Paired measurements of liver stiffness were done in 73 patients without UDCA and in 32 patients with UDCA. In the latter group, 6 patients had cirrhosis; in 15 patients, UDCA was started based on Colombo criteria, and in 11 patients for other reasons. In patients without UDCA, liver stiffness increased: 0.19 (-0.03 to 0.59)kPa/year. Liver stiffness also increased in patients with cirrhosis: 4.6 (0.67-12.4)kPa/year. In patients who had UDCA based on Colombo criteria, a decrease of liver stiffness was observed: 0.70 (-1.6 to 0.55)kPa/year (P=0.01). In patients on UDCA for other reasons, liver stiffness increased: 0.23 (-0.20 to 0.51)kPa/year. UDCA reduced liver stiffness in patients with well-defined, mild liver disease. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Psychosocial problems in children with cystic fibrosis

DEFF Research Database (Denmark)

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

2007-01-01

AIM: To compare the well-being of children (7-14 years) with cystic fibrosis (CF) (n = 43) with the well-being of healthy controls (n = 1121). METHODS: The self-report questionnaire Beck Youth Inventories (BYI) was used to study depression, anxiety, anger, disruptive behaviour and self-concept in......AIM: To compare the well-being of children (7-14 years) with cystic fibrosis (CF) (n = 43) with the well-being of healthy controls (n = 1121). METHODS: The self-report questionnaire Beck Youth Inventories (BYI) was used to study depression, anxiety, anger, disruptive behaviour and self......-concept in children with CF. A measure of social desirability was included as well as body mass index (BMI) and percentage of predicted forced expiratory volume in one second (FEV(1)) as measures of health status. RESULTS: The children with CF did not differ from the norm group concerning depression, disruptive...... behaviour and self-concept. Young children with CF (7-10 years) and boys with CF scored significantly higher on anxiety. Girls with CF scored significantly lower on anger than controls. BMI was not associated with any of the BYI subscales. In patients aged 11-14 years, there was a significant correlation...

Care for Amish and Mennonite children with cystic fibrosis: a case series

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Anbar Ran D

2009-01-01

Full Text Available Abstract Background Published articles have described a lack of willingness to allow preventative measures, as well as other types of modern therapies, as an obstacle to providing medical care for Amish and Mennonite populations. Methods We present data regarding the 12 Amish and Mennonite patients at the SUNY Upstate Medical University Pediatric Cystic Fibrosis Center and three representative case reports. Results Families of patients from these communities receiving care at our Center have accepted preventive therapy, acute medical interventions including home intravenous antibiotic administration, and some immunizations for their children with cystic fibrosis, which have improved the health of our patients. Some have even participated in clinical research trials. Health care education for both the child and family is warranted and extensive. Significant Cystic Fibrosis Center personnel time and fundraising are needed in order to address medical bills incurred by uninsured Amish and Mennonite patients. Conclusion Amish and Mennonite families seeking care for cystic fibrosis may choose to utilize modern medical therapies for their children, with resultant significant improvement in outcome.

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus

DEFF Research Database (Denmark)

Yasuda, Kazuki; Miyake, Kazuaki; Horikawa, Yukio

2008-01-01

We carried out a multistage genome-wide association study of type 2 diabetes mellitus in Japanese individuals, with a total of 1,612 cases and 1,424 controls and 100,000 SNPs. The most significant association was obtained with SNPs in KCNQ1, and dense mapping within the gene revealed that rs22378...

Gamma Knife Radiosurgery for the Treatment of Cystic Cerebral Metastases

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Ebinu, Julius O.; Lwu, Shelly; Monsalves, Eric; Arayee, Mandana [Division of Neurosurgery, Department of Surgery, Toronto Western Hospital, Toronto, Ontario (Canada); Chung, Caroline; Laperriere, Normand J. [Department of Radiation Oncology, Princess Margaret Hospital, University Health Network, University of Toronto, Toronto, Ontario (Canada); Kulkarni, Abhaya V.; Goetz, Pablo [Division of Neurosurgery, Department of Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario (Canada); Zadeh, Gelareh, E-mail: gelareh.zadeh@uhn.on.ca [Division of Neurosurgery, Department of Surgery, Toronto Western Hospital, Toronto, Ontario (Canada)

2013-03-01

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

Gamma Knife Radiosurgery for the Treatment of Cystic Cerebral Metastases

International Nuclear Information System (INIS)

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

2013-01-01

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

Economic Impact of Cystic Echinococcosis in Peru

OpenAIRE

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 to...

Investigating self-efficacy, disease knowledge and adherence to treatment in adolescents with cystic fibrosis.

Science.gov (United States)

Faint, Nicholas R; Staton, Janelle M; Stick, Stephen M; Foster, Juliet M; Schultz, André

2017-05-01

Patient adherence is integral to the effectiveness of prescribed treatment, and is associated with beneficial disease outcomes, yet in adolescents with cystic fibrosis, adherence is often sub-optimal. Multiple factors may contribute to treatment adherence, including disease knowledge and self-efficacy. In adolescents with cystic fibrosis: (i) to compare the disease knowledge of adolescents and their parents before transition to adult care; (ii) to determine the relationship between disease knowledge (adolescent, parent) and adherence; and (iii) to evaluate self-efficacy and its association with disease knowledge and adherence. Adolescents with cystic fibrosis and their parents were recruited from a tertiary children's hospital. Disease knowledge and self-efficacy was assessed using the Knowledge of Disease Management-CF and General Self-Efficacy Scales respectively. Using pharmacy records, medication possession ratio was calculated to measure treatment adherence in the preceding year. Thirty-nine adolescent (aged 12-17 (median 14) years) and parent pairs were recruited. Adherence to hypertonic saline, but not other medications, was significantly associated with disease knowledge in adolescents (r 2  = 0.40, P = 0.029). Mean (SD) adolescent self-efficacy was 30.8 (4.0), and not associated with disease knowledge or adherence. Mean (SD) disease knowledge was less in adolescents than parents (55 (16)% and 72 (14)% respectively, P < 0.001). Disease knowledge is sub-optimal in adolescents with cystic fibrosis, even in the 2 years immediately before transition to adult care. Given that adherence with some treatments has been associated with disease knowledge our results suggest the need for educational interventions in adolescents with cystic fibrosis to optimise self-management and health outcomes. © 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

Holmium-166-chico intracavitary radiation therapy for cystic brain tumors

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Rhee, C. H.; Lee, S. H.; Jang, J. S.; Kim, E. H.; Choi, C. W.; Hong, S. W.; Lim, S. M. [Korea Cancer Center, Seoul (Korea, Republic of)

1997-07-01

Holmium-166-chitosan complex (Ho-166-chico) is injected into the unresectable seven cystic brain tumors (2 cases of metastatic brain tumors from lung cancer, 1 case of recurrent trigeminal neurinoma, 3 cases of recurrent low grade cystic astrocytomas, and 1 case of craniopharyngioma). The Ommaya reservoir was installed stereotactically. The cyst volume and wall thickness were measured by MRI before Ho-166-chico injection. The thickness of the cyst wall is up to 4 mm. Ho-166-chico (555-740 MBq) injected into the cyst to result in 25 Gy of dose to a cyst wall at a depth of 4 mm. Dose to the cyst wall was estimated by Monte Carlo simulation using the EGS4 code. All Ho-166-chico injected was assumed to be uniformly distributed in the spherical cyst. After Ho-166-chico injection, the distribution of isotopes was monitored by gamma camera. Two injections were administrated in two cases, and one injection in all the others. The response was evaluated with MRI. Four of 7 cases were shrunk in size with thinning of the cyst wall, 2 of 7 cases showed growth arrest, and one case showed progression. Estimated surface dose of cyst wall was between 78 and 2566 Gy. No one showed systemic absorption of Ho-166-chico, and specific complication associated with isotope injection. Ho-166-chico intracavitary radiation therapy for cystic brain tumor may be safe, and reliable method and deserves further evaluation.

New susceptibility loci associated with kidney disease in type 1 diabetes.

Directory of Open Access Journals (Sweden)

Niina Sandholm

2012-09-01

Full Text Available Diabetic kidney disease, or diabetic nephropathy (DN, is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D. Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE consortium, we have undertaken a meta-analysis of genome-wide association studies (GWAS of T1D DN comprising ~2.4 million single nucleotide polymorphisms (SNPs imputed in 6,691 individuals. After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 × 10(-8 and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 × 10(-9. Functional data suggest that AFF3 influences renal tubule fibrosis via the transforming growth factor-beta (TGF-β1 pathway. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2.1 × 10(-7, a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN.

Computed tomography of cystic nerve root sleeve dilatation.

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Neave, V C; Wycoff, R R

1983-10-01

A case of cystic nerve root sleeve dilatation in the lumbar area associated with a chronic back pain syndrome is presented. Prominent computed tomography (CT) findings include: (a) rounded masses in the region of the foramina isodense with cerebrospinal fluid in the subarachnoid space; (b) associated asymmetry of epidural fat distribution; (c) enlargement of the neural foramina in axial sections with scalloped erosion of the adjacent posteriolateral vertebral body, pedicle, and pedicular-laminar junction with preservation of cortex and without bony sclerosis or infiltrative appearance; (d) prominent or ectatic dural sac with lack of usual epidural landmarks between the sac and vertebral body; and (e) multilevel abnormalities throughout the entire lumbar region. Myelographic and CT correlations are demonstrated with a review of the literature. A discussion of the various cystic abnormalities involving nerve root sheaths is undertaken in an attempt to clarify the confusing nomenclature applied to nerve root sleeve pathology.

The Association of Arsenic Exposure and Metabolism With Type 1 and Type 2 Diabetes in Youth: The SEARCH Case-Control Study.

Science.gov (United States)

Grau-Pérez, Maria; Kuo, Chin-Chi; Spratlen, Miranda; Thayer, Kristina A; Mendez, Michelle A; Hamman, Richard F; Dabelea, Dana; Adgate, John L; Knowler, William C; Bell, Ronny A; Miller, Frederick W; Liese, Angela D; Zhang, Chongben; Douillet, Christelle; Drobná, Zuzana; Mayer-Davis, Elizabeth J; Styblo, Miroslav; Navas-Acien, Ana

2017-01-01

Little is known about arsenic and diabetes in youth. We examined the association of arsenic with type 1 and type 2 diabetes in the SEARCH for Diabetes in Youth Case-Control (SEARCH-CC) study. Because one-carbon metabolism can influence arsenic metabolism, we also evaluated the potential interaction of folate and vitamin B12 with arsenic metabolism on the odds of diabetes. Six hundred eighty-eight participants iAs], monomethylated arsenic [MMA], dimethylated arsenic [DMA]), and one-carbon metabolism biomarkers (folate and vitamin B12) were measured in plasma. We used the sum of iAs, MMA, and DMA (∑As) and the individual species as biomarkers of arsenic concentrations and the relative proportions of the species over their sum (iAs%, MMA%, DMA%) as biomarkers of arsenic metabolism. Median ∑As, iAs%, MMA%, and DMA% were 83.1 ng/L, 63.4%, 10.3%, and 25.2%, respectively. ∑As was not associated with either type of diabetes. The fully adjusted odds ratios (95% CI), rescaled to compare a difference in levels corresponding to the interquartile range of iAs%, MMA%, and DMA%, were 0.68 (0.50-0.91), 1.33 (1.02-1.74), and 1.28 (1.01-1.63), respectively, for type 1 diabetes and 0.82 (0.48-1.39), 1.09 (0.65-1.82), and 1.17 (0.77-1.77), respectively, for type 2 diabetes. In interaction analysis, the odds ratio of type 1 diabetes by MMA% was 1.80 (1.25-2.58) and 0.98 (0.70-1.38) for participants with plasma folate levels above and below the median (P for interaction = 0.02), respectively. Low iAs% versus high MMA% and DMA% was associated with a higher odds of type 1 diabetes, with a potential interaction by folate levels. These data support further research on the role of arsenic metabolism in type 1 diabetes, including the interplay with one-carbon metabolism biomarkers. © 2017 by the American Diabetes Association.

Cystic fibroepithelioma of Pinkus: two new cases and cystic changes in classical fibroepithelioma of Pinkus

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Zlatko Marusic

2014-09-01

Full Text Available We report two new cases of cystic fibroepithelioma of Pinkus together with immunohistochemical features and analyze the presence of cystic changes in a series of 16 classical fibroepitheliomas of Pinkus. Our findings show that the formation of cystic spaces is most probably caused by ischemic degeneration of stromal fenestrations, rather than by central tumor cell necrosis. This finding is supported by lack of CD34 positive blood vessels in edematous and hyalinized stromal fenestrations undergoing transformation into cystic spaces, as opposed to the uninvolved stromal fenestrations. Therefore, it is probably more accurate to refer to this process as pseudocystic stromal degeneration rather than true cyst formation. Also, two out of 16 classical Pinkus fibroepitheliomas exhibited focal pseudocystic changes in 50% and 10% of the tumor, respectively, demonstrating that this degenerative process can be found, rarely and focally, in classical cases as well. 

Otorhinolaryngologic manifestations of cystic fibrosis: literature review

Directory of Open Access Journals (Sweden)

Carvalho, Carolina Pimenta

2008-12-01

Full Text Available Introduction: Cystic Fibrosis is the most common recessive autosomic genetic disease among Caucasians. It's caused by mutations in the gene that decodes regulatory protein for transmembrane conductance, resulting in defective transport of chlorine. Objective: Review the literature about Cystic Fibrosis, with emphasis on otorhinolaryngologic manifestations. Method: The online Pub Med databases were researched and we applied the following search terms Fibrosis Cystic and Sinusitis, and Mucoviscidosis and Sinusitis. Conclusions: Although it is not the main cause of death, the otorhinolaryngologic manifestations of the Cystic Fibrosis bring important morbidity to these patients.

Retinopathy is associated with impaired myocardial function assessed by advanced echocardiography in type 1 diabetes patients – The Thousand & 1 Study

DEFF Research Database (Denmark)

Nouhravesh, Nina; Andersen, Henrik U; Jensen, Jan S

2016-01-01

AIMS: Retinopathy and heart disease in Type 1 Diabetes Mellitus (Type 1 DM) may be associated; however previous results have been conflicting. Tissue Doppler Imaging (TDI) and speckle-tracking echocardiography (STE) quantify myocardial function not assessable by conventional echocardiography. We...... investigated the association between severity of retinopathy and early myocardial dysfunction using conventional echocardiography, TDI and STE in Type 1 DM patients. METHODS: Type 1 Diabetes Mellitus patients without known heart disease were included from the Steno Diabetes Center. The cross sectional...... association between retinopathy and myocardial function was analyzed in uni-and multivariable models. Retinopathy was categorized as nil-, simplex- or proliferative retinopathy. RESULTS: A total of 1090 Type 1 Diabetes Mellitus patients were included, mean age was 49.6years and 53% were males. Left...

[Correlation between HLA-DB1 genes and susceptibility to echinococcosis in Tibetan population in Tibetan Plateau].

Science.gov (United States)

Shu-Feng, Gao; Xiu-Min, Han; Xue-Fei, Zhang; Yong-Shun, Wang; Wei, Wang; Ya-Min, Guo; Yong-Shou, Li

2017-10-23

To determine the susceptibility genes and resistance genes in HLA-DRB1 alleles in Tibetan patients with cystic and alveolar hydatid diseases, so as to provide the references for the research of the genetic characteristics and infection mechanism of Tibetan hydatid diseases. The case control method was applied. The Tibetan patients with cystic and alveolar hydatid diseases (63 and 73 cases respectively) in Yushu and Guoluo Tibetan Autonomous Prefecture, and unrelated healthy people (60 cases) in this area were selected as the study subjects. The polymerase chain reaction-sequence based typing (PCR-SBT) technique was applied for genotyping of HLA-DRB1, and the comparison of the gene frequency. The frequency of HLA-DRB1*04 in the alveolar/cystic echinococcosis group was lower than that in the control group ( χ 2 = 4.71, 4.31, both P < 0.05). HLA-DRB1*04 genotypes may be associated with the resistance of cystic and alveolar echinococcosis and its resistance genes.

Predictors of associated autoimmune diseases (AAID) in families with type 1 diabetes (T1D). Results from the Type 1 Diabetes Genetics Consortium (T1DGC)

Science.gov (United States)

Wägner, Ana M; Santana, Ángelo; Hernández, Marta; Wiebe, Julia C; Nóvoa, Javier; Mauricio, Didac

2011-01-01

Background Type 1 diabetes (T1D) is a clinically heterogeneous disease. The presence of associated autoimmune diseases (AAID) may represent a distinct form of autoimmune diabetes, with involvement of specific mechanisms. The aim of this study was to find predictors of AAID in the Type 1 Diabetes Genetics Consortium (T1DGC) data set. Methods 3263 families with at least 2 siblings with T1D were included. Clinical information was obtained using questionnaires, anti-GAD and anti-IA-2 were measured and HLA-genotyping was performed. Siblings with T1D with and without AAID were compared and a multivariate regression analysis was performed to find predictors of AAID. T1D-associated HLA haplotypes were defined as the 4 most susceptible and protective, respectively. Results AAID was present in 14.4% of the T1D affected siblings. Age of diabetes onset, current age and time since diagnosis were higher, and there was a female predominance and more family history of AAID in the group with AAID, as well as more frequent anti-GAD and less frequent anti-IA2 positivity. Risk and protective HLA haplotype distributions were similar, though DRB1*0301-DQA1*0501-DQB1*0201 was more frequent in the group with AAID. In the multivariate analysis, female gender, age of onset, family history of AAID, time since diagnosis and anti-GAD positivity were significantly associated with AAID. Conclusions In patients with T1D, the presence of AAID is associated with female predominance, more frequent family history of AAID, later onset of T1D and more anti-GAD antibodies, despite longer duration of the disease. The predominance of certain HLA haplotypes suggests that specific mechanisms of disease may be involved. PMID:21744463

Pancreatic neuroendocrine tumor with complete replacement of the pancreas by serous cystic neoplasms in a patient with von Hippel-Lindau disease: a case report.

Science.gov (United States)

Maeda, Shimpei; Motoi, Fuyuhiko; Oana, Shuhei; Ariake, Kyohei; Mizuma, Masamichi; Morikawa, Takanori; Hayashi, Hiroki; Nakagawa, Kei; Kamei, Takashi; Naitoh, Takeshi; Unno, Michiaki

2017-09-25

von Hippel-Lindau disease is a dominantly inherited multi-system syndrome with neoplastic hallmarks. Pancreatic lesions associated with von Hippel-Lindau include serous cystic neoplasms, simple cysts, and neuroendocrine tumors. The combination of pancreatic neuroendocrine tumors and serous cystic neoplasms is relatively rare, and the surgical treatment of these lesions must consider both preservation of pancreatic function and oncological clearance. We report a patient with von Hippel-Lindau disease successfully treated with pancreas-sparing resection of a pancreatic neuroendocrine tumor where the pancreas had been completely replaced by serous cystic neoplasms, in which pancreatic function was preserved. A 39-year-old female with von Hippel-Lindau disease was referred to our institution for treatment of a pancreatic neuroendocrine tumor. Abdominal computed tomography demonstrated a well-enhanced mass, 4 cm in diameter in the tail of the pancreas, and two multilocular tumors with several calcifications, 5 cm in diameter, in the head of the pancreas. There was complete replacement of the pancreas by multiple cystic lesions with diameters ranging from 1 to 3 cm. Magnetic resonance cholangiopancreatography showed innumerable cystic lesions on the whole pancreas and no detectable main pancreatic duct. Endoscopic ultrasound-guided fine-needle aspiration of the mass in the pancreatic tail showed characteristic features of a neuroendocrine tumor. A diagnosis of pancreatic neuroendocrine tumor in the tail of the pancreas and mixed-type serous cystic neoplasms replacing the whole pancreas was made and she underwent distal pancreatectomy while avoiding total pancreatectomy. The stump of the pancreas was sutured as firm as possible using a fish-mouth closure. The patient made a good recovery and was discharged on postoperative day 9. She is currently alive and well with no symptoms of endocrine or exocrine pancreatic insufficiency 8 months after surgery. A pancreas

Association between type 1 diabetes mellitus and risk of epilepsy: A meta-analysis of observational studies.

Science.gov (United States)

Yan, Dandan; Zhao, Enfa; Zhang, Hong; Luo, Xiaohui; Du, Yajuan

2017-01-01

A potential association between type 1 diabetes mellitus and subsequent epilepsy emerged in recent studies. This study aimed to evaluate the possible relationship between type 1 diabetes mellitus and epilepsy using meta-analysis. Pubmed, ISI Web of Knowledge, Embase and Cochrane Library were searched for potential studies of the association between type 1 diabetes mellitus and epilepsy from inception to February 1, 2017. Two investigators independently screened studies for inclusion and extracted related data; discrepancies were solved by consensus. Random effects model of Hazard Ratio (HR) was used to estimate the strength of association. We identified 13 papers from potentially relevant articles of which 3 cohort studies met the inclusion criteria. Random effects meta-analysis showed that type 1 diabetes mellitus was associated with an increased risk of epilepsy with HR = 3.29 (95% CI: 2.61-4.14; I 2 = 0, p = 0.689). Similar results were observed in type 1 diabetes mellitus patents younger than 18-years-old with HR = 2.96 (95% CI: 2.28-3.84; I 2 = 0, p = 0.571). Meta-analysis of 2 studies that adjusted for potential confounders yielded an increased risk of epilepsy with HR = 2.89 (95% CI: 2.26-3.70; I 2 = 0, p = 0.831). The meta-analysis indicates that type 1 diabetes mellitus is associated with a statistically significant increased risk for epilepsy compared to those without type 1 diabetes mellitus.

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

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Andreasen, Simon; Tan, Qihua; Agander, Tina Klitmøller; Steiner, Petr; Bjørndal, Kristine; Høgdall, Estrid; Larsen, Stine Rosenkilde; Erentaite, Daiva; Olsen, Caroline Holkmann; Ulhøi, Benedicte Parm; von Holstein, Sarah Linéa; Wessel, Irene; Heegaard, Steffen; Homøe, Preben

2018-02-21

Adenoid cystic carcinoma is among the most frequent malignancies in the salivary and lacrimal glands and has a grave prognosis characterized by frequent local recurrences, distant metastases, and tumor-related mortality. Conversely, adenoid cystic carcinoma of the breast is a rare type of triple-negative (estrogen and progesterone receptor, HER2) and basal-like carcinoma, which in contrast to other triple-negative and basal-like breast carcinomas has a very favorable prognosis. Irrespective of site, adenoid cystic carcinoma is characterized by gene fusions involving MYB, MYBL1, and NFIB, and the reason for the different clinical outcomes is unknown. In order to identify the molecular mechanisms underlying the discrepancy in clinical outcome, we characterized the phenotypic profiles, pattern of gene rearrangements, and global microRNA expression profiles of 64 salivary gland, 9 lacrimal gland, and 11 breast adenoid cystic carcinomas. All breast and lacrimal gland adenoid cystic carcinomas had triple-negative and basal-like phenotypes, while salivary gland tumors were indeterminate in 13% of cases. Aberrations in MYB and/or NFIB were found in the majority of cases in all three locations, whereas MYBL1 involvement was restricted to tumors in the salivary gland. Global microRNA expression profiling separated salivary and lacrimal gland adenoid cystic carcinoma from their respective normal glands but could not distinguish normal breast adenoid cystic carcinoma from normal breast tissue. Hierarchical clustering separated adenoid cystic carcinomas of salivary gland origin from those of the breast and placed lacrimal gland carcinomas in between these. Functional annotation of the microRNAs differentially expressed between salivary gland and breast adenoid cystic carcinoma showed these as regulating genes involved in metabolism, signal transduction, and genes involved in other cancers. In conclusion, microRNA dysregulation is the first class of molecules separating adenoid

Global Analysis of the Fungal Microbiome in Cystic Fibrosis Patients Reveals Loss of Function of the Transcriptional Repressor Nrg1 as a Mechanism of Pathogen Adaptation.

Directory of Open Access Journals (Sweden)

Sang Hu Kim

2015-11-01

Full Text Available The microbiome shapes diverse facets of human biology and disease, with the importance of fungi only beginning to be appreciated. Microbial communities infiltrate diverse anatomical sites as with the respiratory tract of healthy humans and those with diseases such as cystic fibrosis, where chronic colonization and infection lead to clinical decline. Although fungi are frequently recovered from cystic fibrosis patient sputum samples and have been associated with deterioration of lung function, understanding of species and population dynamics remains in its infancy. Here, we coupled high-throughput sequencing of the ribosomal RNA internal transcribed spacer 1 (ITS1 with phenotypic and genotypic analyses of fungi from 89 sputum samples from 28 cystic fibrosis patients. Fungal communities defined by sequencing were concordant with those defined by culture-based analyses of 1,603 isolates from the same samples. Different patients harbored distinct fungal communities. There were detectable trends, however, including colonization with Candida and Aspergillus species, which was not perturbed by clinical exacerbation or treatment. We identified considerable inter- and intra-species phenotypic variation in traits important for host adaptation, including antifungal drug resistance and morphogenesis. While variation in drug resistance was largely between species, striking variation in morphogenesis emerged within Candida species. Filamentation was uncoupled from inducing cues in 28 Candida isolates recovered from six patients. The filamentous isolates were resistant to the filamentation-repressive effects of Pseudomonas aeruginosa, implicating inter-kingdom interactions as the selective force. Genome sequencing revealed that all but one of the filamentous isolates harbored mutations in the transcriptional repressor NRG1; such mutations were necessary and sufficient for the filamentous phenotype. Six independent nrg1 mutations arose in Candida isolates from

CT findings and differential diagnosis of cystic neck masses

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

1995-10-15

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

Risk factors for mortality before age 18 years in cystic fibrosis.

Science.gov (United States)

McColley, Susanna A; Schechter, Michael S; Morgan, Wayne J; Pasta, David J; Craib, Marcia L; Konstan, Michael W

2017-07-01

Understanding early-life risk factors for childhood death in cystic fibrosis (CF) is important for clinical care, including the identification of effective interventions. Data from the Epidemiologic Study of Cystic Fibrosis (ESCF) collected 1994-2005 were linked with the Cystic Fibrosis Foundation Patient Registry (CFFPR) demographic and mortality data from 2013. Inclusion criteria were ≥1 visit annually at age 3-5 years and ≥1 FEV 1 measurement at age 6-8 years. Demographic data, nutritional parameters, pulmonary signs and symptoms, microbiology, and FEV 1 were evaluated as risk factors for death before age 18 years. Multivariable Cox proportional hazards regression was used to model the simultaneous effects of risk factors associated with death before age 18 years. Among 5365 patients enrolled in ESCF who met inclusion criteria, 3880 (72%) were linked to the CFFPR. Among these, 191 (5.7%) died before age 18 years; median age at death was 13.4 ± 3.1 years. Multivariable regression showed clubbing, crackles, female sex, unknown CFTR genotype, minority race or ethnicity, Medicaid insurance (a proxy of low socioeconomic status), Pseudomonas aeruginosa on 2 or more cultures, and weight-for-age <50th percentile were significant risk factors for death regardless of inclusion of FEV 1 at age 6-8 years in the model. We identified multiple risk factors for childhood death of patients with CF, all of which remained important after incorporating FEV 1 at age 6-8 years. Among the factors identified were the presence of clubbing or crackles at age 3-5 years, signs which are not routinely collected in registries. © 2017 Wiley Periodicals, Inc.

Association between diabetes type 1 and DQB1 alleles in a case-control study conducted in Montevideo, Uruguay.

Science.gov (United States)

Mimbacas, Adriana; Pérez-Bravo, Francisco; Hidalgo, Pedro C; Javiel, Gerardo; Pisciottano, Carmen; Grignola, Rosario; Jorge, Ana María; Gallino, Juan Pablo; Gasagoite, Jackeline; Cardoso, Horacio

2003-03-31

We studied HLA DQB1 allele frequencies and the relative risk (RR) of various genotypes in 72 type 1 diabetic patients and 40 control individuals in Uruguay. This is a tri-racial (Caucasian, Black and Indo-American) mixed population. The products of the polymerase chain reaction amplifications were hybridized with oligonucleotides by allele-specific oligonucleotide reverse or dot blot methods. Significant differences between these two groups were observed only for allele DQB1*0302 (35%, RR = 7.34, P<0.001). The frequency of the alleles carrying a non-aspartic acid residue at position 57 was significantly higher in the diabetic patients (85 vs 53%, P<0.001). In contrast, the frequency of Asp alleles was negatively associated with type 1 diabetes (RR = 0.20, P<0.001). The genotype DQB1*0302/DQB1*0201 (33%, RR = 5.41, P<0.05) was positively associated with this disease. The genotype frequencies associated with type 1 diabetes in our population were significantly different from what is known for Caucasian and Black populations as well as compared with another admixed population, from Chile.

Mature Cystic Renal Teratoma

International Nuclear Information System (INIS)

Yavuz, Alpaslan; Ceken, Kagan; Alimoglu, Emel; Akkaya, Bahar

2014-01-01

Teratomas are rare germline tumors that originate from one or more embryonic germ cell layers. Teratoma of the kidney is extremely rare, and less than 30 cases of primary intrarenal teratomas have been published to date. We report the main radiologic features of an unusual case of mature cystic teratoma arising from the left kidney in a two-year-old boy. A left-sided abdominal mass was detected on physical examination and B-Mod Ultrasound (US) examination revealed a heterogeneous mass with central cystic component. Computed tomography (CT) demonstrated a lobulated, heterogeneous, hypodense mass extending craniocaudally from the splenic hilum to the level of the left iliac fossa. Nephrectomy was performed and a large, fatty mass arising from the left kidney was excised. The final pathologic diagnosis was confirmed as cystic renal teratoma

Co-colonisation with Aspergillus fumigatus and Pseudomonas aeruginosa is associated with poorer health in cystic fibrosis patients: an Irish registry analysis.

Science.gov (United States)

Reece, Emma; Segurado, Ricardo; Jackson, Abaigeal; McClean, Siobhán; Renwick, Julie; Greally, Peter

2017-04-21

Pulmonary infection is the main cause of death in cystic fibrosis (CF). Aspergillus fumigatus (AF) and Pseudomonas aeruginosa (PA) are the most prevalent fungal and bacterial pathogens isolated from the CF airway, respectively. Our aim was to determine the effect of different colonisation profiles of AF and PA on the clinical status of patients with CF. A retrospective analysis of data from the Cystic Fibrosis Registry of Ireland from 2013 was performed to determine the effect of intermittent and persistent colonisation with AF or PA or co-colonisation with both microorganisms on clinical outcome measures in patients with CF. Key outcomes measured included forced expiratory volume in one second (FEV 1 ), number of hospitalisations, respiratory exacerbations and antimicrobials prescribed, and complications of CF, including CF related diabetes (CFRD) and allergic bronchopulmonary aspergillosis (ABPA). The prevalence of AF and PA colonisation were 11% (5% persistent, 6% intermittent) and 31% (19% persistent, 12% intermittent) in the Irish CF population, respectively. Co-colonisation with both pathogens was associated with a 13.8% reduction in FEV 1 (p = 0.016), higher levels of exacerbations (p = 0.042), hospitalisations (p = 0.023) and antimicrobial usage (p = 0.014) compared to non-colonised patients and these clinical outcomes were comparable to those persistently colonised with PA. Intermittent and persistent AF colonisation were not associated with poorer clinical outcomes or ABPA. Patients with persistent PA had a higher prevalence of CFRD diagnosis (p = 0.012). CF patients co-colonised with AF and PA had poor clinical outcomes comparable to patients persistently colonised with PA, emphasising the clinical significance of co-colonisation with these microorganisms.

Human cystic echinococcosis in South Africa

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Benjamin Mogoye

2012-06-01

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

Associations between Academic Achievement and Psychosocial Variables in Adolescents with Cystic Fibrosis

Science.gov (United States)

Grieve, Adam J.; Tluczek, Audrey; Racine-Gilles, Caroline N.; Laxova, Anita; Albers, Craig A.; Farrell, Philip M.

2011-01-01

Background: Cystic fibrosis (CF) is a chronic genetic disease that leads to the accumulation of thick mucus in multiple organ systems, leading to chronic lung infection and affecting the body's ability to absorb nutrients necessary for growth and development. This cross-sectional, correlational study examined the potential effects of CF on…

Night blindness in a teenager with cystic fibrosis.

LENUS (Irish Health Repository)

Roddy, Marie Frances

2011-12-01

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

High-dose ibuprofen therapy associated with esophageal ulceration after pneumonectomy in a patient with cystic fibrosis: a case report

Directory of Open Access Journals (Sweden)

Anbar Ran D

2004-09-01

Full Text Available Abstract Background Lung disease in patients with cystic fibrosis is thought to develop as a result of airway inflammation, infection, and obstruction. Pulmonary therapies for cystic fibrosis that reduce airway inflammation include corticosteroids, rhDNase, antibiotics, and high-dose ibuprofen. Despite evidence that high-dose ibuprofen slows the progression of lung disease in patients with cystic fibrosis, many clinicians have chosen not to use this therapy because of concerns regarding potential side effects, especially gastrointestinal bleeding. However, studies have shown a low incidence of gastrointestinal ulceration and bleeding in patients with cystic fibrosis who have been treated with high-dose ibuprofen. Case presentation The described case illustrates a life-threatening upper gastrointestinal bleed that may have resulted from high-dose ibuprofen therapy in a patient with CF who had undergone a pneumonectomy. Mediastinal shift post-pneumonectomy distorted the patient's esophageal anatomy and may have caused decreased esophageal motility, which led to prolonged contact of the ibuprofen with the esophagus. The concentrated effect of the ibuprofen, as well as its systemic effects, probably contributed to the occurrence of the bleed in this patient. Conclusions This report demonstrates that gastrointestinal tract anatomical abnormalities or dysmotility may be contraindications for therapy with high-dose ibuprofen in patients with cystic fibrosis.

Co-morbidity in a cystic fibrosis population attending a regional clinic.

LENUS (Irish Health Repository)

Healy, F

2010-11-01

Pulmonary disease remains the major cause of morbidity in patients with cystic fibrosis (CF). However, of 115 patients attending a regional CF clinic we noted 16 cases (14%) with co-morbid conditions. Of this group, 4 of 115 patients (3.5%) had renal problems including both structural and functional defects and 4 (3.5%) had neurological disorders, 3 of which were types of epilepsy. Notably, 3 of 115 patients (2.6%) had different forms of neoplasia, all of which required significant surgical and\\/or chemotherapeutic intervention. There is now increasing evidence of the association between digestive tract malignancy and CF, which further complicates management of these already complex cases.

Occupation with grain crops is associated with lower type 1 diabetes incidence

DEFF Research Database (Denmark)

Haupt-Jorgensen, Martin; Nielsen, Erik; Engkilde, Kåre

2017-01-01

Intranasal administration of gliadin prevents autoimmune diabetes in non-obese diabetic mice. The current study was designed to investigate if bakers are intranasally exposed to gluten during work and whether occupation as baker is inversely associated with type 1 diabetes. Gliadin was measured...... in nasal swabs from eight bakers and butchers. The odds ratio of type 1 diabetes in selected profession groups was analysed in a registry-based case-control study with data from 1980 to 2010 derived from Statistics Denmark. The cohort included 1,210,017 Danish individuals, thereof 15,451 with type 1...... diabetes (1.28%). Average nasal gliadin swab content after full working days was 6.3 μg (confidence interval (CI): 2.8 to 9.7) among bakers, while no nasal gliadin was detected among butchers. The odds ratio of type 1 diabetes was lower among bakers (OR = 0.57; CI: 0.52 to 0.62) and agriculture workers...

Association of STAT4 polymorphisms with susceptibility to type-1 autoimmune hepatitis in the Japanese population.

Science.gov (United States)

Migita, Kiyoshi; Nakamura, Minoru; Abiru, Seigo; Jiuchi, Yuka; Nagaoka, Shinya; Komori, Atsumasa; Hashimoto, Satoru; Bekki, Shigemune; Yamasaki, Kazumi; Komatsu, Tatsuji; Shimada, Masaaki; Kouno, Hiroshi; Hijioka, Taizo; Kohjima, Motoyuki; Nakamuta, Makoto; Kato, Michio; Yoshizawa, Kaname; Ohta, Hajime; Nakamura, Yoko; Takezaki, Eiichi; Nishimura, Hideo; Sato, Takeaki; Ario, Keisuke; Hirashima, Noboru; Oohara, Yukio; Naganuma, Atsushi; Muro, Toyokichi; Sakai, Hironori; Mita, Eiji; Sugi, Kazuhiro; Yamashita, Haruhiro; Makita, Fujio; Yatsuhashi, Hiroshi; Ishibashi, Hiromi; Yasunami, Michio

2013-01-01

Recent studies demonstrated an association of STAT4 polymorphisms with autoimmune diseases including systemic lupus erythematosus and rheumatoid arthritis, indicating multiple autoimmune diseases share common susceptibility genes. We therefore investigated the influence of STAT4 polymorphisms on the susceptibility and phenotype of type-1 autoimmune hepatitis in a Japanese National Hospital Organization (NHO) AIH multicenter cohort study. Genomic DNA from 460 individuals of Japanese origin including 230 patients with type-1 autoimmune hepatitis and 230 healthy controls was analyzed for two single nucleotide polymorphisms in the STAT4 gene (rs7574865, rs7582694). The STAT4 rs7574865T allele conferred risk for type-1 autoimmune hepatitis (OR = 1.61, 95% CI = 1.23-2.11; P = 0.001), and patients without accompanying autoimmune diseases exhibited an association with the rs7574865T allele (OR = 1.50, 95%CI = 1.13-1.99; P = 0.005). Detailed genotype-phenotype analysis of type-1 autoimmune hepatitis patients with (n = 44) or without liver cirrhosis (n = 186) demonstrated that rs7574865 was not associated with the development of liver cirrhosis and phenotype (biochemical data and the presence of auto-antibodies). This is the first study to show a positive association between a STAT4 polymorphism and type-1 autoimmune hepatitis, suggesting that autoimmune hepatitis shares a gene commonly associated with risk for other autoimmune diseases.

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

NARCIS (Netherlands)

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

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

Primary cystic pancreatic neoplasms and tumor-like conditions. MR cholangiopancreatographic evaluation of lesions and Wirsung's duct

International Nuclear Information System (INIS)

Garcia, Adriana; Spina, Juan C. h; Rogondino, Jose; Chacon, Carolina; Gutierrez, Silvia

2003-01-01

Objective: To evaluate the contribution of single shot fast spin echo (SSFSE) in the diagnosis of cystic lesions in the pancreas, and their relation to Wirsung's duct. Material and methods: In 66 patients (33 women and 33 men; mean age: 66 years) cystic pancreatic lesions were retrospectively analyzed. The SSFSE technique was used, including an evaluation of Wirsung's duct. Conventional pancreatic sequences were added. The following lesion features were assessed: location, number, size, relation to Wirsung's duct, nature of the cystic image and signal intensity of the neoplasm or tumor-like condition. Surgical and anatomopathological correlation was obtained in 31/66 cases (47%). Results: The cystic lesions were divided in 2 groups: A) cystic lesions related to Wirsung's duct, 30 patients: all lesions measured less than 30 mm in size. Seven patients underwent surgical treatment; in 22 cases surgery was not indicated. One patient refused surgery. A mucinous papilliferous intraductal tumor was diagnosed in 3 cases, ampullar carcinoma in 1 case, pancreatic carcinoma, 1 case, autoimmune pancreatitis, 1 case, and cystic duct dilatation due to benign fibrous stenosis, 1 case. B) Cystic lesions not related to Wirsung's duct (36 patients): 7 serous cystadenomas, 7 adenocarcinomas with a cystic component, 1 mucinous cystadenoma, 1 duodenal diverticulum, 7 pseudocysts and 1 neuroendocrine tumor. In 12 patients surgery was not carried out due to clinical contraindication or patient's refusal. Conclusion: SSFSE allowed a clear differentiation between cystic lesions related (Group A) and non-related (Group B) to Wirsung's duct. The diagnosis could not be achieved by usual MRI sequences. However, benign and malignant lesions were observed in both groups. In all cases SSFSE afforded useful data either for surgical treatment or clinical follow-up. (author)

Case report 467: Cystic chondroblastoma left 4th rib

Energy Technology Data Exchange (ETDEWEB)

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

1988-03-01

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

Not All Children with Cystic Fibrosis Have Abnormal Esophageal Neutralization during Chemical Clearance of Acid Reflux.

Science.gov (United States)

Woodley, Frederick W; Moore-Clingenpeel, Melissa; Machado, Rodrigo Strehl; Nemastil, Christopher J; Jadcherla, Sudarshan R; Hayes, Don; Kopp, Benjamin T; Kaul, Ajay; Di Lorenzo, Carlo; Mousa, Hayat

2017-09-01

Acid neutralization during chemical clearance is significantly prolonged in children with cystic fibrosis, compared to symptomatic children without cystic fibrosis. The absence of available reference values impeded identification of abnormal findings within individual patients with and without cystic fibrosis. The present study aimed to test the hypothesis that significantly more children with cystic fibrosis have acid neutralization durations during chemical clearance that fall outside the physiological range. Published reference value for acid neutralization duration during chemical clearance (determined using combined impedance/pH monitoring) was used to assess esophageal acid neutralization efficiency during chemical clearance in 16 children with cystic fibrosis (3 to chemical clearance exceeded the upper end of the physiological range in 9 of 16 (56.3%) children with and in 3 of 16 (18.8%) children without cystic fibrosis ( p =0.0412). The likelihood ratio for duration indicated that children with cystic fibrosis are 2.1-times more likely to have abnormal acid neutralization during chemical clearance, and children with abnormal acid neutralization during chemical clearance are 1.5-times more likely to have cystic fibrosis. Significantly more (but not all) children with cystic fibrosis have abnormally prolonged esophageal clearance of acid. Children with cystic fibrosis are more likely to have abnormal acid neutralization during chemical clearance. Additional studies involving larger sample sizes are needed to address the importance of genotype, esophageal motility, composition and volume of saliva, and gastric acidity on acid neutralization efficiency in cystic fibrosis children.

Computed tomography of cystic pancreatic fibrosis

International Nuclear Information System (INIS)

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

1984-01-01

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

Psychological interventions for individuals with cystic fibrosis and their families.

Science.gov (United States)

Goldbeck, Lutz; Fidika, Astrid; Herle, Marion; Quittner, Alexandra L

2014-06-18

cover interventions with generic approaches, as well as interventions developed specifically to target disease-specific symptoms and problems in people with cystic fibrosis. These include cognitive behavioural interventions to improve adherence to nutrition or psychosocial adjustment, cognitive interventions to improve adherence or those associated with decision making in lung transplantation, a community-based support intervention and other interventions, such as self-hypnosis, respiratory muscle biofeedback, music therapy, dance and movement therapy, and a tele-medicine intervention to support patients awaiting transplantation.A substantial proportion of outcomes relate to adherence, changes in physical status or other specific treatment concerns during the chronic phase of the disease.There is some evidence that behavioural interventions targeting nutrition and growth in children (4 to 12 years) with cystic fibrosis are effective in the short term. Evidence was found that providing a structured decision-making tool for patients considering lung transplantation improves patients' knowledge of and expectations about the transplant, and reduces decisional conflict in the short term. One study about training in biofeedback-assisted breathing demonstrated some evidence that it improved some lung function measurements. Currently there is insufficient evidence for interventions aimed at other aspects of the disease process. Currently, insufficient evidence exists on psychological interventions or approaches to support people with cystic fibrosis and their caregivers, although some of the studies were promising. Due to the heterogeneity between studies, more of each type of intervention are needed to support preliminary evidence. Multicentre studies, with consequent funding implications, are needed to increase the sample size of these studies and enhance the statistical power and precision to detect important findings. In addition, multicentre studies could improve the

Identification of rep-associated factors in herpes simplex virus type 1-induced adeno-associated virus type 2 replication compartments.

Science.gov (United States)

Nicolas, Armel; Alazard-Dany, Nathalie; Biollay, Coline; Arata, Loredana; Jolinon, Nelly; Kuhn, Lauriane; Ferro, Myriam; Weller, Sandra K; Epstein, Alberto L; Salvetti, Anna; Greco, Anna

2010-09-01

Adeno-associated virus (AAV) is a human parvovirus that replicates only in cells coinfected with a helper virus, such as adenovirus or herpes simplex virus type 1 (HSV-1). We previously showed that nine HSV-1 factors are able to support AAV rep gene expression and genome replication. To elucidate the strategy of AAV replication in the presence of HSV-1, we undertook a proteomic analysis of cellular and HSV-1 factors associated with Rep proteins and thus potentially recruited within AAV replication compartments (AAV RCs). This study resulted in the identification of approximately 60 cellular proteins, among which factors involved in DNA and RNA metabolism represented the largest functional categories. Validation analyses indicated that the cellular DNA replication enzymes RPA, RFC, and PCNA were recruited within HSV-1-induced AAV RCs. Polymerase delta was not identified but subsequently was shown to colocalize with Rep within AAV RCs even in the presence of the HSV-1 polymerase complex. In addition, we found that AAV replication is associated with the recruitment of components of the Mre11/Rad50/Nbs1 complex, Ku70 and -86, and the mismatch repair proteins MSH2, -3, and -6. Finally, several HSV-1 factors were also found to be associated with Rep, including UL12. We demonstrated for the first time that this protein plays a role during AAV replication by enhancing the resolution of AAV replicative forms and AAV particle production. Altogether, these analyses provide the basis to understand how AAV adapts its replication strategy to the nuclear environment induced by the helper virus.

CT diagnosis of cystic ovarian lesions

International Nuclear Information System (INIS)

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

1985-01-01

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

Aortic stiffness is associated with white matter integrity in patients with type 1 diabetes

International Nuclear Information System (INIS)

Tjeerdema, Nathanja; Schinkel, Linda D. van; Westenberg, Jos J.; Elderen, Saskia G. van; Buchem, Mark A. van; Grond, Jeroen van der; Roos, Albert de; Smit, Johannes W.

2014-01-01

To assess the association between aortic pulse wave velocity (PWV) as a marker of arterial stiffness and diffusion tensor imaging of brain white matter integrity in patients with type 1 diabetes using advanced magnetic resonance imaging (MRI) technology. Forty-one patients with type 1 diabetes (23 men, mean age 44 ± 12 years, mean diabetes duration 24 ± 13 years) were included. Aortic PWV was assessed using through-plane velocity-encoded MRI. Brain diffusion tensor imaging (DTI) measurements were performed on 3-T MRI. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated for white and grey matter integrity. Pearson correlation and multivariable linear regression analyses including cardiovascular risk factors as covariates were assessed. Multivariable linear regression analyses revealed that aortic PWV is independently associated with white matter integrity FA (β = -0.777, p = 0.008) in patients with type 1 diabetes. This effect was independent of age, gender, mean arterial pressure, body mass index, smoking, duration of diabetes and glycated haemoglobin levels. Aortic PWV was not significantly related to grey matter integrity. Our data suggest that aortic stiffness is independently associated with reduced white matter integrity in patients with type 1 diabetes. (orig.)

Aortic stiffness is associated with white matter integrity in patients with type 1 diabetes

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Tjeerdema, Nathanja; Schinkel, Linda D. van [Leiden University Medical Center, Department of Endocrinology and General Internal Medicine (C7-Q), Albinusdreef 2, PO Box 9600, Leiden (Netherlands); Westenberg, Jos J.; Elderen, Saskia G. van; Buchem, Mark A. van; Grond, Jeroen van der; Roos, Albert de [Leiden University Medical Center, Department of Radiology, Leiden (Netherlands); Smit, Johannes W. [Leiden University Medical Center, Department of Endocrinology and General Internal Medicine (C7-Q), Albinusdreef 2, PO Box 9600, Leiden (Netherlands); University Medical Center Nijmegen, Department of General Internal Medicine, Nijmegen (Netherlands)

2014-09-15

To assess the association between aortic pulse wave velocity (PWV) as a marker of arterial stiffness and diffusion tensor imaging of brain white matter integrity in patients with type 1 diabetes using advanced magnetic resonance imaging (MRI) technology. Forty-one patients with type 1 diabetes (23 men, mean age 44 ± 12 years, mean diabetes duration 24 ± 13 years) were included. Aortic PWV was assessed using through-plane velocity-encoded MRI. Brain diffusion tensor imaging (DTI) measurements were performed on 3-T MRI. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated for white and grey matter integrity. Pearson correlation and multivariable linear regression analyses including cardiovascular risk factors as covariates were assessed. Multivariable linear regression analyses revealed that aortic PWV is independently associated with white matter integrity FA (β = -0.777, p = 0.008) in patients with type 1 diabetes. This effect was independent of age, gender, mean arterial pressure, body mass index, smoking, duration of diabetes and glycated haemoglobin levels. Aortic PWV was not significantly related to grey matter integrity. Our data suggest that aortic stiffness is independently associated with reduced white matter integrity in patients with type 1 diabetes. (orig.)

Complex cystic lesions of the breast on ultrasonography: Feature analysis and BI-RADS assessment

International Nuclear Information System (INIS)

Hsu, Hsian-He; Yu, Jyh-Cherng; Lee, Herng-Sheng; Lin, Wen-Chiung; Chang, Wei-Chou; Tung, Ho-Jui; Huang, Guo-Shu; Hsu, Giu-Cheng

2011-01-01

Purpose: To analyze the features of breast complex cystic lesions at ultrasonography (US) and to determine appropriate Breast Imaging Reporting and Data System (BI-RADS) categories and management recommendations for these lesions based on US findings with pathologic correlation. Materials and methods: From July 2001 to June 2007, 152 consecutive pathologically proven complex cystic lesions on US were retrospectively reviewed. All lesions at US were evaluated for size, lesion characteristics, margins, and presence of abnormal axillary nodes. US features of lesions were classified into four types, and positive predictive values (PPVs) were calculated for each type. Clinical, imaging, and histopathological findings were reviewed. Results: Of the 152 lesions based on US appearance, 36 (24%) were classified as type I, 49 (32%) as type II, 28 (18%) as type III, and 39 (26%) as type IV. The PPVs for malignancy in each type were 14% for type I, 16% for type II, 14% for type III, and 41% for type IV. There was a significantly higher frequency of malignancy among lesions of type IV compared with the other three types (16/39 = 41% vs 5/36 = 14%, p = 0.0089; 16/39 = 41% vs 8/49 = 16%, p = 0.0098; and 16/39 = 41% vs 4/28 = 14%, p = 0.018 [Chi-squared test]). Lesions with maximum diameter equal to or larger than 20 mm, not circumscribed margins, or a mammographic finding of suspected malignancy had a high probability of malignancy (p < 0.05 for each). Conclusion: US is useful in evaluating the complex cystic lesions and in clarifying the indication for biopsy of these lesions. The four types of US classifications used in our study establish accepted benchmarks for these breast abnormalities when stratified according to BI-RADS categories.

Complex cystic lesions of the breast on ultrasonography: Feature analysis and BI-RADS assessment

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Hsu, Hsian-He, E-mail: hsianhe@yahoo.com.tw [Department of Radiology, Tri-Service General Hospital, National Defense Medical Center, Taiwan (China); Yu, Jyh-Cherng [Department of Surgery, Division of General Surgery, Tri-Service General Hospital, National Defense Medical Center, Taiwan (China); Lee, Herng-Sheng [Department of Pathology, Tri-Service General Hospital, National Defense Medical Center, Taiwan (China); Lin, Wen-Chiung; Chang, Wei-Chou [Department of Radiology, Tri-Service General Hospital, National Defense Medical Center, Taiwan (China); Tung, Ho-Jui [Department of Healthcare Administration, Asia University, Taiwan (China); Huang, Guo-Shu; Hsu, Giu-Cheng [Department of Radiology, Tri-Service General Hospital, National Defense Medical Center, Taiwan (China)

2011-07-15

Purpose: To analyze the features of breast complex cystic lesions at ultrasonography (US) and to determine appropriate Breast Imaging Reporting and Data System (BI-RADS) categories and management recommendations for these lesions based on US findings with pathologic correlation. Materials and methods: From July 2001 to June 2007, 152 consecutive pathologically proven complex cystic lesions on US were retrospectively reviewed. All lesions at US were evaluated for size, lesion characteristics, margins, and presence of abnormal axillary nodes. US features of lesions were classified into four types, and positive predictive values (PPVs) were calculated for each type. Clinical, imaging, and histopathological findings were reviewed. Results: Of the 152 lesions based on US appearance, 36 (24%) were classified as type I, 49 (32%) as type II, 28 (18%) as type III, and 39 (26%) as type IV. The PPVs for malignancy in each type were 14% for type I, 16% for type II, 14% for type III, and 41% for type IV. There was a significantly higher frequency of malignancy among lesions of type IV compared with the other three types (16/39 = 41% vs 5/36 = 14%, p = 0.0089; 16/39 = 41% vs 8/49 = 16%, p = 0.0098; and 16/39 = 41% vs 4/28 = 14%, p = 0.018 [Chi-squared test]). Lesions with maximum diameter equal to or larger than 20 mm, not circumscribed margins, or a mammographic finding of suspected malignancy had a high probability of malignancy (p < 0.05 for each). Conclusion: US is useful in evaluating the complex cystic lesions and in clarifying the indication for biopsy of these lesions. The four types of US classifications used in our study establish accepted benchmarks for these breast abnormalities when stratified according to BI-RADS categories.

Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing

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Egić Amira

2011-01-01

Full Text Available Introduction. More recently, the regions of increased abdominal echogenicity such as echogenic bowel, meconium ileus and meconium peritonitis have been associated with an increased prevalence of a variety of unfavourable outcomes including chromosomal abnormalities, cytomegalovirus infection, intestinal obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal examinations of these severe autosomal recessive diseases had been suggested only to families with history of cystic fibrosis. Recently, systemic examination has been introduced by ultrasound with bowel hyperechogenicity where the fetus is the index case for genetic disease. Risk for cystic fibrosis with this ultrasonography findings ranges from 0-33%. Outline of Cases. Two patients are presented, aged 24 and 29 years, both primigravide. The first one had ultrasonography finding of meconium peritonitis revealed at the 37th week of gestation and the other meconium ileus revealed on ultrasonography at the 29th week of gestation. Both patients had prenatal testing of foetal blood obtained by cordocenthesis, both had normal kariotype and were negative for cytomegalovirus infection. Parental DNA testing for the 2nd patient showed that parents were not carriers for the 29 most frequent mutations. Both neonates had intestinal obstruction, underwent surgery and early postoperative course was normal. Hystopathological finding suggested a possibility of cystic fibrosis for the 1st patient, but parents did not want to be tested and for the 2nd one congenital bowel stenosis as a cause of intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an indication for invasive procedures for foetal blood testing for chromosomal abnormalities, congenital infections and parental testing for cystic fibrosis. Only if parental heterozygosity is proven foetus should be tested.

Childhood abdominal cystic lymphangioma

International Nuclear Information System (INIS)

Konen, Osnat; Rathaus, Valeria; Shapiro, Myra; Dlugy, Elena; Freud, Enrique; Kessler, Ada; Horev, Gadi

2002-01-01

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

Childhood abdominal cystic lymphangioma

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

2002-02-01

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

Association of STAT4 polymorphisms with susceptibility to type-1 autoimmune hepatitis in the Japanese population.

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Kiyoshi Migita

Full Text Available BACKGROUND/AIMS: Recent studies demonstrated an association of STAT4 polymorphisms with autoimmune diseases including systemic lupus erythematosus and rheumatoid arthritis, indicating multiple autoimmune diseases share common susceptibility genes. We therefore investigated the influence of STAT4 polymorphisms on the susceptibility and phenotype of type-1 autoimmune hepatitis in a Japanese National Hospital Organization (NHO AIH multicenter cohort study. METHODOLOGY/PRINCIPAL FINDINGS: Genomic DNA from 460 individuals of Japanese origin including 230 patients with type-1 autoimmune hepatitis and 230 healthy controls was analyzed for two single nucleotide polymorphisms in the STAT4 gene (rs7574865, rs7582694. The STAT4 rs7574865T allele conferred risk for type-1 autoimmune hepatitis (OR = 1.61, 95% CI = 1.23-2.11; P = 0.001, and patients without accompanying autoimmune diseases exhibited an association with the rs7574865T allele (OR = 1.50, 95%CI = 1.13-1.99; P = 0.005. Detailed genotype-phenotype analysis of type-1 autoimmune hepatitis patients with (n = 44 or without liver cirrhosis (n = 186 demonstrated that rs7574865 was not associated with the development of liver cirrhosis and phenotype (biochemical data and the presence of auto-antibodies. CONCLUSIONS/SIGNIFICANCE: This is the first study to show a positive association between a STAT4 polymorphism and type-1 autoimmune hepatitis, suggesting that autoimmune hepatitis shares a gene commonly associated with risk for other autoimmune diseases.

Associations between adherence, depressive symptoms and health-related quality of life in young adults with cystic fibrosis

OpenAIRE

Knudsen, K. B.; Pressler, T.; Mortensen, L. H.; Jarden, M.; Skov, M.; Quittner, A. L.; Katzenstein, T.; Boisen, K. A.

2016-01-01

Background Cystic fibrosis (CF) is a life shortening disease, however prognosis has improved and the adult population is growing. Most adults with cystic fibrosis live independent lives and balance the demands of work and family life with a significant treatment burden. The aim of this study was to examine the relationships among treatment adherence, symptoms of depression and health-related quality of life (HRQoL) in a population of young adults with CF. Methods We administered three standar...

Pregnancy and cystic fibrosis: Approach to contemporary management

Science.gov (United States)

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

2014-01-01

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

Cystic Duct Closure by Sealing With Bipolar Electrocoagulation

Science.gov (United States)

Damgaard, B.; Jorgensen, L. N.; Larsen, S. S.; Kristiansen, V. B.

2010-01-01

Background: Cystic duct leakage after cholecystectomy is not uncommon and is a potentially serious complication. The aim of this study was to assess a bipolar sealing system (LigaSure®) for closure of the cystic duct. Methods: The records from consecutive laparoscopic cholecystectomies performed in 2 hospitals with closure of the cystic duct with LigaSure after informed consent were recorded and complications and morbidity registered. The records were compared with those of patients undergoing laparoscopic cholecystectomy with closure of the cystic duct with clips during the same period. Results: During the study period, 218 laparoscopic cholecystectomies were performed; 102 of these were performed with the LigaSure. One patient was excluded due to violation of the protocol. We experienced no cases of cystic duct leakage, but in one patient, bile leakage from the gallbladder bed was observed probably due to a small aberrant duct. Conclusion: The LigaSure system was safe and effective for closure and division of the cystic duct in laparoscopic cholecystectomy. PMID:20412641

Giant cystic abdominal masses in children

International Nuclear Information System (INIS)

Wootton-Gorges, Sandra L.; Thomas, Kristen B.; Harned, Roger K.; Wu, Sarah R.; Stein-Wexler, Rebecca; Strain, John D.

2005-01-01

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

Giant cystic abdominal masses in children

Energy Technology Data Exchange (ETDEWEB)

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

2005-12-01

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

Human cystic echinococcosis in South Africa

NARCIS (Netherlands)

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

2012-01-01

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

Leukotrienes are upregulated and associated with human T-lymphotropic virus type 1 (HTLV-1-associated neuroinflammatory disease.

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Bruno Caetano Trindade

Full Text Available Leukotrienes (LTs are lipid mediators involved in several inflammatory disorders. We investigated the LT pathway in human T-lymphotropic virus type 1 (HTLV-1 infection by evaluating LT levels in HTLV-1-infected patients classified according to the clinical status as asymptomatic carriers (HACs and HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP patients. Bioactive LTB(4 and CysLTs were both increased in the plasma and in the supernatant of peripheral blood mononuclear cell cultures of HTLV-1-infected when compared to non-infected. Interestingly, CysLT concentrations were increased in HAM/TSP patients. Also, the concentration of plasma LTB(4 and LTC(4 positively correlated with the HTLV-1 proviral load in HTLV-1-infected individuals. The gene expression levels of LT receptors were differentially modulated in CD4(+ and CD8(+ T cells of HTLV-1-infected patients. Analysis of the overall plasma signature of immune mediators demonstrated that LT and chemokine amounts were elevated during HTLV-1 infection. Importantly, in addition to CysLTs, IP-10 was also identified as a biomarker for HAM/TSP activity. These data suggest that LTs are likely to be associated with HTLV-1 infection and HAM/TSP development, suggesting their putative use for clinical monitoring.

Diversity, Prevalence, and Longitudinal Occurrence of Type II Toxin-Antitoxin Systems of Pseudomonas aeruginosa Infecting Cystic Fibrosis Lungs

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Sandra B. Andersen

2017-06-01

Full Text Available Type II toxin-antitoxin (TA systems are most commonly composed of two genes encoding a stable toxin, which harms the cell, and an unstable antitoxin that can inactivate it. TA systems were initially characterized as selfish elements, but have recently gained attention for regulating general stress responses responsible for pathogen virulence, formation of drug-tolerant persister cells and biofilms—all implicated in causing recalcitrant chronic infections. We use a bioinformatics approach to explore the distribution and evolution of type II TA loci of the opportunistic pathogen, Pseudomonas aeruginosa, across longitudinally sampled isolates from cystic fibrosis lungs. We identify their location in the genome, mutations, and gain/loss during infection to elucidate their function(s in stabilizing selfish elements and pathogenesis. We found (1 26 distinct TA systems, where all isolates harbor four in their core genome and a variable number of the remaining 22 on genomic islands; (2 limited mutations in core genome TA loci, suggesting they are not under negative selection; (3 no evidence for horizontal transmission of elements with TA systems between clone types within patients, despite their ability to mobilize; (4 no gain and limited loss of TA-bearing genomic islands, and of those elements partially lost, the remnant regions carry the TA systems supporting their role in genomic stabilization; (5 no significant correlation between frequency of TA systems and strain ability to establish as chronic infection, but those with a particular TA, are more successful in establishing a chronic infection.

Single-Operator Peroral Cholangioscopy for Extraction of Cystic Duct Stones in Postcholecystectomy Mirizzi Syndrome

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Jason Deforest Jones

2017-01-01

Full Text Available Mirizzi syndrome is an exceptionally rare diagnosis with an annual incidence of less than 1% in developed countries. In this disease process, stone burden in the cystic duct or gallbladder neck leads to common hepatic duct obstruction, either by mechanical compression or secondary inflammation. Mirizzi syndrome is classified into one of four types based on the presence and severity of cholecystobiliary fistulization. Treatment is primarily surgical in nature and largely dictated by the type of Mirizzi syndrome encountered. It is typically diagnosed in the preoperative or operative setting of cholecystectomy; however, there have been rare occurrences of postcholecystectomy diagnosis. Factors thought to predispose to postcholecystectomy disease include low insertion of the cystic duct and long remnant duct length. Few case reports exist describing this phenomenon and its management, which is made exceptionally difficult due to the presence of inflammation and surgical adhesion. We present the case of a young female with postcholecystectomy Mirizzi syndrome who underwent successful endoscopic management using peroral cholangioscopy and electrohydraulic lithotripsy. We also provide a brief overview of both Mirizzi syndrome and peroral cholangioscopy.

Single-Operator Peroral Cholangioscopy for Extraction of Cystic Duct Stones in Postcholecystectomy Mirizzi Syndrome.

Science.gov (United States)

Jones, Jason Deforest; Pawa, Rishi

2017-01-01

Mirizzi syndrome is an exceptionally rare diagnosis with an annual incidence of less than 1% in developed countries. In this disease process, stone burden in the cystic duct or gallbladder neck leads to common hepatic duct obstruction, either by mechanical compression or secondary inflammation. Mirizzi syndrome is classified into one of four types based on the presence and severity of cholecystobiliary fistulization. Treatment is primarily surgical in nature and largely dictated by the type of Mirizzi syndrome encountered. It is typically diagnosed in the preoperative or operative setting of cholecystectomy; however, there have been rare occurrences of postcholecystectomy diagnosis. Factors thought to predispose to postcholecystectomy disease include low insertion of the cystic duct and long remnant duct length. Few case reports exist describing this phenomenon and its management, which is made exceptionally difficult due to the presence of inflammation and surgical adhesion. We present the case of a young female with postcholecystectomy Mirizzi syndrome who underwent successful endoscopic management using peroral cholangioscopy and electrohydraulic lithotripsy. We also provide a brief overview of both Mirizzi syndrome and peroral cholangioscopy.

MR diffusion-weighted imaging in differential diagnosis of intracranial cystic lesions

International Nuclear Information System (INIS)

Ji Xueman; Lu Guangming; Wang Zhongqiu; Zhang Zongjun; Zhang Zhiqiang; Wang Junpeng

2007-01-01

Objective: To evaluate the value of diffusion-weighted imaging (DWI) on differential diagnosis of intracranial cystic lesions. Methods: Seventy-six patients with surgically and pathologically confirmed intracranial cystic lesions undergone conventional MRI, DWI and contrast enhanced MRI examination. The signal characteristics of intracranial cystic lesions on DWI were analysed retrospectively, the apparent diffusion coefficient (ADC) values of cystic areas were measured quantitatively. Results: Nineteen brain abscesses showed hyperintense signal on DWI. Among 34 brain tumors, 3 brain gliomas were hyperintense signal, 1 brain glioma was isointense signal and 1 metastasis was hyperintense signal; the other 29 brain tumors showed hypointense signal on DWI. The ADC values of all lesions were: (0.62 ± 0.15) x 10 -3 mm 2 /s in brain abscesses, (2.39 ± 0.78) x 10 -3 mm 2 /s in brain gliomas, (2.68 ± 0.40) x 10 -3 mm 2 /s in brain hemangioblastomas, (2.79 ± 0.79) x 10 -3 mm 2 /s in brain metastases, respectively. There were significant differences between the ADC values of brain abscess and the cystic or necrotic portions of brain glioma, hemangioblastoma, metastasis (P 0.05). Seven intracranial arachnoid cysts showed hypointense signal and 16 epidermoid cysts strikingly hyperintense signal on DWI. The ADC values of arachnoid cysts and epidermoid cysts were (2.96 ± 0.36) x 10 -3 mm 2 /s and (0.94 ± 0.13) x 10 -3 mm 2 /s respectively. There was significant difference between the ADC values of arachnoid cysts and epidermoid cysts (P<0.01). Conclusion: DWI and ADC values have important contribution to the differentiation of brain abscesses from cystic or necrotic tumors, intracranial cystic lesions showing hypointense signal on DWI can exclude brain abscess. (authors)

Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.

Science.gov (United States)

Collaco, Joseph M; Blackman, Scott M; Raraigh, Karen S; Morrow, Christopher B; Cutting, Garry R; Paranjape, Shruti M

2014-10-06

Cystic fibrosis (CF) is characterized by recurrent respiratory infections and progressive lung disease. Whereas exercise may contribute to preserving lung function, its benefit is difficult to ascertain given the selection bias of healthier patients being more predisposed to exercise. Our objective was to examine the role of self-reported exercise with longitudinal lung function and body mass index (BMI) measures in CF. A total of 1038 subjects with CF were recruited through the U.S. CF Twin-Sibling Study. Questionnaires were used to determine exercise habits. Questionnaires, chart review, and U.S. CF Foundation Patient Registry data were used to track outcomes. Within the study sample 75% of subjects self-reported regular exercise. Exercise was associated with an older age of diagnosis (p = 0.002), older age at the time of ascertainment (p nutritional and pulmonary outcomes in cystic fibrosis for adults. Although prospective studies are needed to confirm these associations, programs to promote regular exercise among individuals with cystic fibrosis would be beneficial.

High osteoprotegerin is associated with development of foot ulcer in type 1 diabetes

DEFF Research Database (Denmark)

Zobel, Emilie H; von Scholten, Bernt J; Lajer, Maria

2016-01-01

BACKGROUND AND AIM: The bone-related peptide osteoprotegerin has been linked to vascular calcification and peripheral vascular disease. We investigated the association between osteoprotegerin and development of foot complications in persons with type 1 diabetes. MATERIALS AND METHODS: Prospective...... observational study of 573 persons with type 1 diabetes, 225 women; age [mean±SD] 42.3±10.3years. Plasma osteoprotegerin was measured by ELISA. RESULTS: Median (IQR) osteoprotegerin was 2.80(2.35-3.63)μg/L and follow-up time (median (range)) was 12.7(0.1-15.6)years. Endpoints included: new foot ulceration (n......=153), Charcot foot (n=14), vascular surgery/amputation (n=53), loss of foot pulse (n=57), and peripheral neuropathy (n=99). In unadjusted analyses, higher osteoprotegerin was associated with development of all endpoints (p≤0.026). Higher osteoprotegerin remained associated with development of foot...

Posterior midline cervical fetal cystic hygroma.

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Oak S

1992-04-01

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

Myometrial Cystic Formation after Local Methotrexate Application into Cornual Gestational Sac: A Case Report of an Unexpected Complication

Directory of Open Access Journals (Sweden)

Zehra Sema Ozkan

2011-01-01

Full Text Available Cornual pregnancy is a rare type of ectopic pregnancy, and diverse therapeutic options exist for the management. Medical treatment despite high initial beta HCG values is not thought to be safe. We reported a 39-year-old woman with an initial beta HCG value of 22000 mIU/mL and diagnosed of a cornual pregnancy. Patient was managed successfully with the administration of combined systemic and ultrasonographically guided local injection of methotrexate into the gestational sac. During followup with serial beta hcg measurements, 27×20 mm cystic area in myometrium has been detected. Beta hcg <1 mIU/mL value was reached three months later, and this cystic area resolved spontaneously. Systemic methotrexate administration combined with ultrasound-guided local methotrexate injection into the gestational sac might be considered as the first-line treatment in the management of hemodynamically stable patients having cornual pregnancy even with high beta HCG values and risk of myometrial cystic formation.

Laparoscopic cholecystectomy in adult cystic fibrosis.

LENUS (Irish Health Repository)

McGrath, D S

2012-02-03

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

Molecular typing of Burkholderia cepacia complex isolated from patients attending an Italian Cystic Fibrosis Centre.

Science.gov (United States)

Teri, Antonio; Sottotetti, Samantha; Biffi, Arianna; Girelli, Daniela; D'Accico, Monica; Arghittu, Milena; Colombo, Carla; Corti, Fabiola; Pizzamiglio, Giovanna; Cariani, Lisa

2018-04-01

Bacteria from the Burkholderia cepacia complex (Bcc) are capable of causing severe infections in patients with cystic fibrosis (CF). Bcc infection is often extremely difficult to treat due to its intrinsic resistance to multiple antibiotics. In addition, it seems to speed up the decline of lung function and is considered a contraindication for lung transplantation in CF. This study investigates the species of the Bcc strains recovered from chronically infected CF subjects by means of: isolation, identification methods and complete recA nucleotide sequences of 151 samples. Molecular typing showed that B. cenocepacia III is the dominant strain found in the group of subjects being treated at the Milan CF Centre (Italy) and that the infection is chronically maintained by the same species. Defining species by means of molecular analysis yields important information for the clinician in order to establish the most appropriate therapy and implement correct measures for prevention of transmission among CF subjects.

Risk of asthma in heterozygous carriers for cystic fibrosis

DEFF Research Database (Denmark)

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

2016-01-01

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

STAT4 polymorphism is associated with early-onset type 1 diabetes, but not with late-onset type 1 diabetes.

Science.gov (United States)

Lee, Hye-Soon; Park, Hyewon; Yang, Seiwon; Kim, Dukhee; Park, Yongsoo

2008-12-01

In an effort to discover non-HLA genes affecting susceptibility to type 1 diabetes (T1D), we have investigated the association of polymorphisms in STAT4, an important signaling molecule of IL-12, gammaIFN, and IL-23, in a sample of 389 T1D patients and 152 nondiabetic controls in Korea. Four SNPs on chromosome 2q, which were recently found to be associated with rheumatoid arthritis, were examined for association and linkage disequilibrium. We found that neither alleles or genotypes among all four SNPs nor reconstructed haplotypes of the three SNPs within the same LD block (rs7574865, rs8179673, and rs10181656) were associated with susceptibility to T1D. When we stratified T1D patients into early-onset and late-onset subgroups on the basis of fewer or more than 7.8 years of age at diagnosis, however, the minor alleles of three SNPs (rs7574865, rs8179673, and rs10181656) showed a significant association with susceptibility to T1D in the early-onset subgroup (i.e., rs7574865, OR = 1.44 [1.03-2.01], P rs7574865, rs8179673, and rs10181656) showed very comparable degrees of risk for T1D. The age at diagnosis is lowest in the patients carrying the homozygotes of a minor allele, middle in the heterozygotes, and highest in the homozygotes of a major allele, suggesting the dosage effects of risk alleles on the age of onset of disease. Recognizing that only the early-onset cases might represent the true autoimmune T1D in Asian populations, we see that STAT4 alleles and haplotype might influence cytokine signaling and, therefore, development of T1D.

Health-related quality of life of Spanish children with cystic fibrosis.

Science.gov (United States)

Groeneveld, Iris F; Sosa, Elena S; Pérez, Margarita; Fiuza-Luces, Carmen; Gonzalez-Saiz, Laura; Gallardo, Cristian; López-Mojares, Luis M; Ruiz, Jonatan R; Lucia, Alejandro

2012-12-01

To investigate (1) the contributions of sex, age, nutritional status- and physical-fitness-related variables on health-related quality of life (HRQOL) in Spanish children with cystic fibrosis, and (2) the agreement on HRQOL between children and their parents. In 28 children aged 6-17 years, body mass index percentile, percentage body fat, physical activity, pulmonary function, cardiorespiratory fitness, functional mobility, and dynamic muscle strength were determined using objective measures. HRQOL was measured using the revised version of the cystic fibrosis questionnaire. Simple and multiple linear regression analyses were performed to determine the variables associated with HRQOL. To assess the agreement on HRQOL between children and parents, intra-class correlation coefficients (ICCs) were calculated. Girls reported worse emotional functioning, a higher treatment burden, and more respiratory problems than boys. Greater functional mobility appeared associated with a less favourable body image and more eating disturbances. Agreement on HRQOL between children and parents was good to excellent, except for the domain of treatment burden. Sex and age were stronger predictors of HRQOL than nutritional status- or physical-fitness-related variables. Children reported a lower treatment burden than their parents perceived them to have.

Mediastinal Cystic Lymphangioma in a Patient with Situs Inversus Totalis

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Teruya Komatsu

2014-01-01

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

Parenting adolescents with cystic fibrosis: an interpretive description of the adolescent point of view

DEFF Research Database (Denmark)

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

2011-01-01

, we conducted a secondaryanalysis of the interview data. Results: The adolescents wanted their parents educated about the adolescent experience. They wanted their parents to learn a pedagogical parenting style, to learn to trust the adolescents, and to learn to gradually transfer responsibility......Background: Decreases in disease-related physiological and quality of life parameters are often seen in adolescents with cystic fibrosis. The aim of this study was to identify the types of parental support that adolescents with cystic fibrosis find helpful in terms of preventing these decreases...... for the adolescents’ medical treatment. Conclusion: Parenting an adolescent with cystic fibrosis is a challenge, and the adolescents felt that their parents need to learn skills to help the adolescents better manage their disease. These findings indicate that health professionals may need to educate parents about...

Respiratory muscle training for cystic fibrosis.

Science.gov (United States)

Hilton, Nathan; Solis-Moya, Arturo

2018-05-24

Cystic fibrosis is the most common autosomal recessive disease in white populations, and causes respiratory dysfunction in the majority of individuals. Numerous types of respiratory muscle training to improve respiratory function and health-related quality of life in people with cystic fibrosis have been reported in the literature. Hence a systematic review of the literature is needed to establish the effectiveness of respiratory muscle training (either inspiratory or expiratory muscle training) on clinical outcomes in cystic fibrosis. This is an update of a previously published review. To determine the effectiveness of respiratory muscle training on clinical outcomes in people with cystic fibrosis. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials register comprising of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of most recent search: 17 April 2018.A hand search of the Journal of Cystic Fibrosis and Pediatric Pulmonology was performed, along with an electronic search of online trial databases up until 07 May 2018. Randomised controlled studies comparing respiratory muscle training with a control group in people with cystic fibrosis. Review authors independently selected articles for inclusion, evaluated the methodological quality of the studies, and extracted data. Additional information was sought from trial authors where necessary. The quality of the evidence was assessed using the GRADE system MAIN RESULTS: Authors identified 19 studies, of which nine studies with 202 participants met the review's inclusion criteria. There was wide variation in the methodological and written quality of the included studies. Four of the nine included studies were published as abstracts only and lacking concise details, thus limiting the information available. Seven studies were parallel studies and two of a cross-over design. Respiratory

Mature cystic Theratome. Presentation of a case

International Nuclear Information System (INIS)

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

2004-01-01

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

Median regression spline modeling of longitudinal FEV1 measurements in cystic fibrosis (CF) and chronic obstructive pulmonary disease (COPD) patients.

Science.gov (United States)

Conrad, Douglas J; Bailey, Barbara A; Hardie, Jon A; Bakke, Per S; Eagan, Tomas M L; Aarli, Bernt B

2017-01-01

Clinical phenotyping, therapeutic investigations as well as genomic, airway secretion metabolomic and metagenomic investigations can benefit from robust, nonlinear modeling of FEV1 in individual subjects. We demonstrate the utility of measuring FEV1 dynamics in representative cystic fibrosis (CF) and chronic obstructive pulmonary disease (COPD) populations. Individual FEV1 data from CF and COPD subjects were modeled by estimating median regression splines and their predicted first and second derivatives. Classes were created from variables that capture the dynamics of these curves in both cohorts. Nine FEV1 dynamic variables were identified from the splines and their predicted derivatives in individuals with CF (n = 177) and COPD (n = 374). Three FEV1 dynamic classes (i.e. stable, intermediate and hypervariable) were generated and described using these variables from both cohorts. In the CF cohort, the FEV1 hypervariable class (HV) was associated with a clinically unstable, female-dominated phenotypes while stable FEV1 class (S) individuals were highly associated with the male-dominated milder clinical phenotype. In the COPD cohort, associations were found between the FEV1 dynamic classes, the COPD GOLD grades, with exacerbation frequency and symptoms. Nonlinear modeling of FEV1 with splines provides new insights and is useful in characterizing CF and COPD clinical phenotypes.

Macronutrient intake in preschoolers with cystic fibrosis and the relationship between macronutrients and growth.

Science.gov (United States)

Filigno, Stephanie S; Robson, Shannon M; Szczesniak, Rhonda D; Chamberlin, Leigh A; Baker, Meredith A; Sullivan, Stephanie M; Kroner, John; Powers, Scott W

2017-07-01

Adequate nutrition is essential for growth in children with cystic fibrosis (CF). The new CF Foundation Clinical Practice Guidelines bring attention to monitoring macronutrient intake as well as total energy. Dietary intake of 75 preschool children with CF and pancreatic insufficiency was examined and compared to the Clinical Practice Guidelines. Regression analyses examined relationships between macronutrient intake and growth. Approximately 45% of children met the 110% minimum recommended dietary allowance (RDA) recommendation. Children consumed 35.3% (6.1) of total daily energy intake from fat, 12.7% (1.7) from protein, and 52.0% (6.1) from carbohydrates. Percent energy from protein was associated with height growth. Many preschoolers with CF are not meeting nutrition benchmarks for total energy and fat. To optimize nutrition early, dietary monitoring with frequent individualized feedback is needed. Optimizing intake of macronutrients that promote growth, especially fat and protein, should be a primary clinical target. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Mature cystic teratoma of the pancreas in a child

International Nuclear Information System (INIS)

Yu, C.W.; Liu, K.L.; Li, Y.W.; Lin, W.C.

2003-01-01

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

Aerosolized recombinant human DNase I for the treatment of cystic fibrosis.

Science.gov (United States)

Shak, S

1995-02-01

Respiratory symptoms, recurrent infectious exacerbations, and progressive lung destruction in cystic fibrosis can be attributed to bacterial persistence and the accumulation of viscous purulent secretions in the airways. Purulent secretions contain high concentrations of extracellular DNA, a viscous material released by leukocytes. To evaluate the potential clinical utility of recombinant human DNase I (rhDNase or Pulmozyme), the human enzyme was cloned, sequenced, and expressed. In in vitro studies, rhDNase has been shown to reduce the viscoelasticity, reduce the adhesiveness, and improve the mucociliary transportability of cystic fibrosis sputum. In short-term phase 1 and phase 2 clinical trials, rhDNase has been shown to be safely tolerated and to improve the FEV1, FVC, and symptoms of dyspnea. A long-term placebo-controlled phase 3 study was performed in 968 adults and children (> or = 5 years) with cystic fibrosis to determine the effect of rhDNase on the risk of respiratory exacerbations requiring parenteral antibiotics and on the FEV1. Compared with placebo-treated patients, patients treated with rhDNase once daily or twice daily experienced a reduced risk of respiratory exacerbations by 28% (p = 0.04) and 37% (p = 0.01), respectively, and had a mean improvement in FEV1 of 5.8% (p < 0.01) and 5.6% (p < 0.01), respectively. Compared with placebo-treated patients, patients treated with rhDNase spent 2.7 fewer days receiving parenteral antibiotics (p = 0.04) and spent 1.3 fewer days in the hospital (p = 0.06) over the 6-month treatment period. Inhalation of rhDNase did not cause anaphylaxis but was associated with upper airway symptoms (ie, voice alteration, hoarseness, pharyngitis) that were generally mild and transient. In conclusion, aerosol administration of rhDNase was safely tolerated, reduced the risk of infectious exacerbations requiring parenteral antibiotics, and improved pulmonary function and patient well-being.

Fatal Airway Obstruction in a Man With a Cystic Hygroma.

Science.gov (United States)

Wygant, Cassandra Maria; Cohle, Stephen D

2018-05-03

We describe a 24-year-old man with a cystic hygroma of the left side of the lower neck that led to sudden death. Cystic hygroma (cystic lymphangioma) is a congenital malformation of the lymphatic system. The patient, who had a tracheostomy because of airway obstruction from the cystic hygroma, was found dead with his tracheostomy tube on the floor next to him. Complications of cystic hygroma include infiltration of the neck causing airway obstruction, dysphagia, pain, and obstructive sleep apnea.

Interleukin-1 receptor type I gene-deficient mice are less susceptible to Staphylococcus epidermidis biomaterial-associated infection than are wild-type mice

NARCIS (Netherlands)

Boelens, J. J.; van der Poll, T.; Zaat, S. A.; Murk, J. L.; Weening, J. J.; Dankert, J.

2000-01-01

Elevated concentrations of interleukin-1 (IL-1) were found in tissue surrounding biomaterials infected with Staphylococcus epidermidis. To determine the role of IL-1 in biomaterial-associated infection (BAI), IL-1 receptor type I-deficient (IL-1R(-/-)) and wild-type mice received subcutaneous

Asymptomatic cystic changes in the brain of children after cranial irradiation: frequency, latency, and relationship to age

International Nuclear Information System (INIS)

Kitajima, Mika; Hirai, Toshinori; Maruyama, Natsuki; Yamura, Masayuki; Hayashida, Yoshiko; Baba, Yuji; Yamashita, Yasuyuki; Murakami, Ryuji; Korogi, Yukunori; Nakamura, Hideo; Kuratsu, Jun-ichi

2007-01-01

Although radiation therapy plays an important role in the management of children with brain tumors, radiation-induced brain damage sometimes occurs after radiation therapy. In some pediatric patients who had undergone cranial radiation therapy, we noticed cystic changes in the brain on follow-up MRI. The purpose of this study was to determine the frequency, latency, relationship with patient age, radiation dose, and serial change in the cystic changes in children after cranial irradiation. We retrospectively studied MRI in 33 children who had undergone cranial irradiation for their primary brain tumors. Postirradiation cystic change in the brain on follow-up MRI was defined as a well-demarcated, oval-shaped, CSF-like signal intensity area, and no contrast enhancement. Of the 33 patients, 6 (18.2%) had one or more cystic lesions. The latency of the cystic changes ranged from 1.5 to 7 years (mean 2.6 years). Cystic changes were found in the subcortical, periventricular and other deep white matter and the basal ganglia. The size of the lesions ranged from 1 to 10 mm at their first appearance; eight cystic lesions increased in size. None the cystic lesions reduced in size or resolved with time and none required intervention. All patients with cystic changes had received irradiation when they were 6 years of age or younger. The cystic changes occurred within the radiation field in patients treated with a radiation dose of 36 Gy or more. Asymptomatic brain parenchymal cystic changes appear to occur in children who have undergone cranial irradiation at 6 years of age or younger. (orig.)

Molecular epidemiology of Aspergillus collected from cystic fibrosis patients.

Science.gov (United States)

Sabino, Raquel; Ferreira, Jose A G; Moss, Richard B; Valente, Joana; Veríssimo, Cristina; Carolino, Elisabete; Clemons, Karl V; Everson, Cassie; Banaei, Niaz; Penner, John; Stevens, David A

2015-07-01

Aspergillus respiratory infection is a common complication in cystic fibrosis (CF) and is associated with loss of pulmonary function and allergic disease. Fifty-three Aspergillus isolates recovered from CF patients were identified to species by Internal Transcribed Spacer Region (ITS), β-tubulin, and calmodulin sequencing. Three species complexes (Terrei, Nigri, and Fumigati) were found. Identification to species level gave a single Aspergillus terreus sensu stricto, one Aspergillus niger sensu stricto and 51 Aspergillus fumigatus sensu stricto isolates. No cryptic species were found. To our knowledge, this is the first prospective study of Aspergillus species in CF using molecular methods. The paucity of non-A. fumigatus and of cryptic species of A. fumigatus suggests a special association of A. fumigatus sensu stricto with CF airways, indicating it likely displays unique characteristics making it suitable for chronic residence in that milieu. These findings could refine an epidemiologic and therapeutic approach geared to this pathogen. Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Polymorphisms in AHI1 are not associated with type 2 diabetes or related phenotypes in Danes: non-replication of a genome-wide association result

DEFF Research Database (Denmark)

Holmkvist, J; Anthonsen, S; Wegner, L

2008-01-01

AIMS/HYPOTHESIS: A genome-wide association study recently identified an association between common variants, rs1535435 and rs9494266, in the AHI1 gene and type 2 diabetes. The aim of the present study was to investigate the putative association between these polymorphisms and type 2 diabetes or t...... the importance of independent and well-powered replication studies of the recent genome-wide association scans before a locus is robustly validated as being associated with type 2 diabetes.......AIMS/HYPOTHESIS: A genome-wide association study recently identified an association between common variants, rs1535435 and rs9494266, in the AHI1 gene and type 2 diabetes. The aim of the present study was to investigate the putative association between these polymorphisms and type 2 diabetes...... or type 2 diabetes-related metabolic traits in Danish individuals. METHODS: The previously associated polymorphisms were genotyped in the population-based Inter99 cohort (n=6162), the Danish ADDITION study (n=8428), a population-based sample of young healthy participants (n=377) and in additional type 2...

Associations between adherence, depressive symptoms and health-related quality of life in young adults with cystic fibrosis

DEFF Research Database (Denmark)

Knudsen, K. B.; Pressler, T.; Mortensen, L. H.

2016-01-01

Background: Cystic fibrosis (CF) is a life shortening disease, however prognosis has improved and the adult population is growing. Most adults with cystic fibrosis live independent lives and balance the demands of work and family life with a significant treatment burden. The aim of this study...... was to examine the relationships among treatment adherence, symptoms of depression and health-related quality of life (HRQoL) in a population of young adults with CF.Methods: We administered three standardized questionnaires to 67 patients with CF aged 18–30 years; Morisky Medication Adherence Scale, Major...

Cyanide levels found in infected cystic fibrosis sputum inhibit airway ciliary function.

Science.gov (United States)

Nair, Chandrika; Shoemark, Amelia; Chan, Mario; Ollosson, Sarah; Dixon, Mellissa; Hogg, Claire; Alton, Eric W F W; Davies, Jane C; Williams, Huw D

2014-11-01

We have previously reported cyanide at concentrations of up to 150 μM in the sputum of cystic fibrosis patients infected with Pseudomonas aeruginosa and a negative correlation with lung function. Our aim was to investigate possible mechanisms for this association, focusing on the effect of pathophysiologically relevant cyanide levels on human respiratory cell function. Ciliary beat frequency measurements were performed on nasal brushings and nasal air-liquid interface (ALI) cultures obtained from healthy volunteers and cystic fibrosis patients. Potassium cyanide decreased ciliary beat frequency in healthy nasal brushings (n = 6) after 60 min (150 μM: 47% fall, pcyanide as a key component inhibiting the ciliary beat frequency. If cyanide production similarly impairs mucocilliary clearance in vivo, it could explain the link with increased disease severity observed in cystic fibrosis patients with detectable cyanide in their airway. ©ERS 2014.

Novel Association Between Immune-Mediated Susceptibility Loci and Persistent Autoantibody Positivity in Type 1 Diabetes

DEFF Research Database (Denmark)

Brorsson, Caroline A; Onengut, Suna; Chen, Wei-Min

2015-01-01

Islet autoantibodies detected at disease onset in patients with type 1 diabetes are signs of an autoimmune destruction of the insulin-producing β-cells. To further investigate the genetic determinants of autoantibody positivity, we performed dense immune-focused genotyping on the Immunochip array...... and tested for association with seven disease-specific autoantibodies in a large cross-sectional cohort of 6,160 type 1 diabetes-affected siblings. The genetic association with positivity for GAD autoantibodies (GADAs), IA2 antigen (IA-2A), zinc transporter 8, thyroid peroxidase, gastric parietal cells (PCAs...... and constitute candidates for early screening. Major susceptibility loci for islet autoantibodies are separate from type 1 diabetes risk, which may have consequences for intervention strategies to reduce autoimmunity....

Association Between Retinal Vascular Calibre and Blindness in Young Patients With Type 1 Diabetes

DEFF Research Database (Denmark)

Rasmussen, Malin Lundberg; Lundberg, Lars Kristian; Frydkjær-Olsen, Ulrik

retinopathy ranged between no retinopathy (20 eyes, 55.6%), mild NPDR (15 eyes, 41.6%) and moderate NPDR (1 eye, 2.8%). From baseline retinal photos, central retinal artery and vein equivalent (CRAE and CRVE) was calculated in the validated semi-automated computer program IVAN using the Big6 method. Two eyes......Association Between Retinal Vascular Calibre and Blindness in Young Patients With Type 1 Diabetes Purpose To examine the association between retinal vascular calibre and incident blindness caused by diabetic retinopathy in young patients with type 1 diabetes. Methods A case-control study of 6...... years. Incident blindness was defined for patients who registered between 1995 and 2010 in the Danish Association of the Blind, which is a voluntary organization open for patients with a visual acuity at or below 6/60 (0.1) in the best eye. Each blind patient was matched with 3 controls regarding age...

Body composition and pulmonary function in Cystic Fibrosis

Directory of Open Access Journals (Sweden)

Saba eSheikh

2014-04-01

Full Text Available Background: Lower body mass index (BMI is associated with worse pulmonary function in cystic fibrosis (CF. Hypothesis: Lean body mass (LBM is more strongly associated with pulmonary function than BMI is.Methods: Anthropometrics, body composition by dual x-ray absorptiometry, and pulmonary function were determined in pancreatic insufficient CF (PI-CF youth. Sex and age-adjusted Z-scores (BMI-Z, LBMI-Z, FMI-Z were generated for CF and controls. 1 Associations of BMI-Z with LBMI-Z and FMI-Z and 2 age-adjusted associations of BMI-Z, LBMI-Z, and FMI-Z with FEV1%-predicted were tested. Results: 208 PI-CF subjects had lower BMI-Z, LBMI-Z, FMI-Z compared to 390 controls. BMI-Z was associated with lower LBMI-Z (pConclusions: In PI-CF youth, deficits in LBM were apparent. At lower BMI percentiles, BMI may not accurately depict LBM in PI-CF. In under-nourished PI-CF youth this preservation of FM in preference to LBM is relevant since LBMI-Z, but not FMI-Z, is positively associated with FEV1%-predicted. LBMI is more strongly associated with lung function compared to BMI, especially in the undernourished child and adolescent with PI-CF.

PFGE and antibiotic susceptibility phenotype analysis of Pseudomonas aeruginosa strain chronically infecting Cystic Fibrosis patients

Directory of Open Access Journals (Sweden)

Giovanna Pulcrano

2008-09-01

Full Text Available Pseudomonas aeruginosa is the leading cause of chronic lung infection and following pulmonary worsening of cystic fibrosis patients. To verify whether bacterial modifications regarding motility, mucoidy, and serum susceptibility proceeded from an adaptation to chronic infection or a replacement with a new strain, sequential P. aeruginosa isolates of known phenotype collected from 5 cystic fibrosis patients were typed by pulsed-field gel electophoresis (PFGE. Antimicrobial susceptibility testing of all isolates was performed by the disc diffusion method. PFGE typing demonstrated that strains dissimilar in colony morphotype and of different antibiotic susceptibility patterns could be of the same genotype. Some patients were colonized with a rather constant P. aeruginosa flora, with strains of different phenotypes but of one genotype. Instead, some patients may be colonized by more than one genotype. Secretion of mucoid exopolysaccharide and acquisition of a new antibiotic susceptibility phenotype in these strain appear to evolve during chronic colonization in cystic fibrosis patients from specific adaptation to infection rather than from acquisition of new bacterial strains.

Intestinal permeability to [51Cr]EDTA in children with cystic fibrosis

International Nuclear Information System (INIS)

Leclercq-Foucart, J.; Forget, P.; Sodoyez-Goffaux, F.; Zappitelli, A.

1986-01-01

Intestinal permeability was investigated in 14 children with cystic fibrosis making use of [ 51 Cr]EDTA as probe molecule. Ten normal young adults and 11 children served as controls. After oral administration of [ 51 Cr]EDTA, 24 h urine was collected. Urinary radioactivity was calculated and results expressed as percentage of oral dose excreted in 24 h urine. Mean and SEM were as follows: 2.51 +/- 0.21, 2.35 +/- 0.24, and 13.19 +/- 1.72 for control children, normal adults, and cystic fibrosis patients, respectively. The permeability differences between cystic fibrosis patients and either control children or control adults are significant (p less than 0.001)

Management of the Upper Airway in Cystic Fibrosis

Science.gov (United States)

Illing, Elisa A.; Woodworth, Bradford A.

2015-01-01

Purpose of Review Upper airway disease engenders significant morbidity for patients with cystic fibrosis and is increasingly recognized as having a much greater role in pulmonary outcomes and quality of life than originally believed. Widespread disparate therapeutic strategies for cystic fibrosis chronic rhinosinusitis underscore the absence of a standardized treatment paradigm. This review outlines the most recent evidence-based trends in the management of upper airway disease in cystic fibrosis. Recent Findings The unified airway theory proposes that the sinuses are a focus of initial bacterial colonization which seeds the lower airway and may play a large role in maintaining lung infections. Mounting evidence suggests more aggressive treatment of the sinuses may confer significant improvement in pulmonary disease and quality of life outcomes in cystic fibrosis patients. However, there is a lack of high-level evidence regarding medical and surgical management of cystic fibrosis chronic rhinosinusitis that makes generalizations difficult. Summary Well designed clinical trials with long-term follow-up concerning medical and surgical interventions for cystic fibrosis sinus disease are required to establish standardized treatment protocols, but increased interest in the sinuses as a bacterial reservoir for pulmonary infections has generated considerable attention. PMID:25250804

Simultaneous liver mucinous cystic and intraductal papillary mucinous neoplasms of the bile duct: a case report.

Science.gov (United States)

Budzynska, Agnieszka; Hartleb, Marek; Nowakowska-Dulawa, Ewa; Krol, Robert; Remiszewski, Piotr; Mazurkiewicz, Michal

2014-04-14

Cystic hepatic neoplasms are rare tumors, and are classified into two separate entities: mucinous cystic neoplasms (MCNs) and intraductal papillary mucinous neoplasms of the bile duct (IPMN-B). We report the case of a 56-year-old woman who presented with abdominal pain and jaundice due to the presence of a large hepatic multilocular cystic tumor associated with an intraductal tumor. Partial hepatectomy with resection of extrahepatic bile ducts demonstrated an intrahepatic MCN and an intraductal IPMN-B. This is the first report of the simultaneous occurrence of these two histologically distinct entities in the liver.

Mitochondrial mutations in adenoid cystic carcinoma of the salivary glands.

Directory of Open Access Journals (Sweden)

Suhail K Mithani

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

Autogenous Partial Bone Chip Grafting on the Exposed Inferior Alveolar Nerve After Cystic Enucleation.

Science.gov (United States)

Seo, Mi Hyun; Eo, Mi Young; Cho, Yun Ju; Kim, Soung Min; Lee, Suk Keun

2018-03-01

This prospective study evaluated the clinical effectiveness of the new approach of partial autogenous bone chip grafts for the treatment of mandibular cystic lesions related to the inferior alveolar nerve (IAN). A total of 38 patients treated for mandibular cysts or benign tumors were included in this prospective study and subsequently divided into 3 groups depending on the bone grafting method used: cystic enucleation without a bone graft (group 1), partial bone chip graft covering the exposed IAN (group 2), and autogenous bone graft covering the entire defect (group 3). We evaluated the symptoms, clinical signs, and radiographic changes using dental panorama preoperatively, immediate postoperatively, and at 1, 3, 6, and 12 months postoperatively. Radiographic densities were compared using Adobe Photoshop CS5 (Adobe Systems Inc., San Jose, CA). Repeated measures analysis of variance was used for statistical evaluation with SPSS 22.0 (SPSS Inc, Chicago, IL), and P < 0.05 was considered statistically significant.Radiopacities were the most increased at 1 year postoperative in group 3; groups 2 and 3 did not show statistically significant differences, whereas groups 1 and 3 were statistically significant. In terms of radiographic bone healing with clinical regeneration of the exposed IAN, healing occurred in all patients, although the best healing was achieved in group 2.This autogenous partial bone chip grafting procedure to cover the exposed IAN is suggested as a new surgical protocol for the treatment of cystic lesions associated with the IAN.

Cholecystokinin cholescintigraphic findings in the cystic duct syndrome

International Nuclear Information System (INIS)

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

1985-01-01

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

[Pancreatic infringement exocrine and endocrine in cystic fibrosis].

Science.gov (United States)

Kessler, L; Abély, M

2016-12-01

The exocrine pancreatic insufficiency affects more than 80% of cystic fibrosis (CF) infants. Pancreatic insufficiency is diagnosed by low levels of fecal elastase. An optimal caloric intake, a pancreatic enzyme treatment are the keys to maintain a good nutritional status. The fat soluble vitamins supplementation will be associated with pancreatic enzymes treatment and will be adapted to plasma levels. Iron and oligo-element deficiency such as zinc is common. The pancreatic enzymes function is not optimal in the proximal bowel: the intraluminal intestinal pH is low because of the absence of bicarbonate release by the pancreas. The use of proton pump inhibitors may improve the functionality of pancreatic enzymes treatment. New therapies such as ivacaftor in patients with a G551D mutation allows a weight gain in particular by restoring intestinal pH similar to controls. Lengthening of the life expectancy of patients with CF is accompanied by the emergence new aspects of the disease, especially diabetes, favored by pancreatic cystic fibrosis resulting in an anatomical destruction of pancreatic islets. Currently, diabetes affects a third of the patients after 20 years, and half after 30 years. Cystic fibrosis-related diabetes is a major factor of morbidity-mortality in all stages of the disease and is characterized by a preclinical phase of glucose intolerance particularly long reaching up to 10 years. Its pathophysiology combines a lack of insulin secretion, an insulin resistance secondary to chronic infection, and a decrease in the production of the GIP and GLP-1. The insulin secretion depending on the channel chlorine (Cystic Fibrosis Transmembrane conductance Regulator [CFTR]) activity at the membrane surface of insulin cell is reduced prior to the occurrence of pancreatic histological lesions. At the stage of diabetes, obtaining a normoglycemia by insulin treatment began very early allows to slow the decline of lung function and nutritional status. Given the silent

Cystic Fibrosis-Related Diabetes (CFRD): Daily Management

Science.gov (United States)

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

Outcome in cystic fibrosis liver disease.

LENUS (Irish Health Repository)

Rowland, Marion

2011-01-01

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

The role of daily physical activity and nutritional status on bone turnover in cystic fibrosis: a cross-sectional study

Directory of Open Access Journals (Sweden)

Sergio Tejero

2016-01-01

Full Text Available ABSTRACT Background Nutritional status and daily physical activity (PA may be an excellent tool for the maintenance of bone health in patients with cystic fibrosis (CF. Objective To evaluate the relationship between nutritional status, daily physical activity and bone turnover in cystic fibrosis patients. Method A cross-sectional study of adolescent and adult patients diagnosed with clinically stable cystic fibrosis was conducted. Total body, femoral neck, and lumbar spine bone mineral density (BMD were determined by dual energy X-ray absorptiometry and bone metabolism markers ALP, P1NP, PICP, and ß-CrossLaps. PA monitoring was assessed for 5 consecutive days using a portable device. Exercise capacity was also determined. Serum 25-hydroxyvitamin D and vitamin K were also determined in all participants. Results Fifty patients (median age: 24.4 years; range: 16-46 were included. BMI had positive correlation with all BMD parameters, with Spearman’s coefficients ranging from 0.31 to 0.47. Total hip bone mineral density and femoral neck BMD had positive correlation with the daily time spent on moderate PA (>4.8 metabolic equivalent-minutes/day; r=0.74, p7.2 metabolic equivalent-minutes/day; r=0.45 p<0.001, body mass index (r=0.44, p=0.001, and muscle mass in limbs (r=0.41, p=0.004. Levels of carboxy-terminal propeptide of type 1 collagen were positively associated with the daily time spent on moderate (r=0.33 p=0.023 and vigorous PA (r=0.53, p<0.001. Conclusions BMI and the daily time spent on moderate PA were found to be correlated with femoral neck BMD in CF patients. The association between daily PA and biochemical markers of bone formation suggests that the level of daily PA may be linked to bone health in this patient group. Further research is needed to confirm these findings.

Cystic fibrosis Delta F508 heterozygotes, smoking, and reproduction

DEFF Research Database (Denmark)

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

1998-01-01

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

Systematic review of studies on cost-effectiveness of cystic fibrosis carrier testing

Directory of Open Access Journals (Sweden)

Ernesto Andrade-Cerquera

2016-10-01

Full Text Available Introduction: Cystic fibrosis is considered the most common autosomal disease with multisystem complications in non-Hispanic white population. Objective: To review the available evidence on cost-effectiveness of the cystic fibrosis carrier testing compared to no intervention. Materials and methods: The databases of MEDLINE, Embase, NHS, EBM Reviews - Cochrane Database of Systematic Reviews, LILACS, Health Technology Assessment, Genetests.org, Genetsickkids.org and Web of Science were used to conduct a systematic review of the cost-effectiveness of performing the genetic test in cystic fibrosis patients. Cost-effectiveness studies were included without language or date of publication restrictions. Results: Only 13 studies were relevant for full review. Prenatal, preconception and mixed screening strategies were found. Health perspective was the most used; the discount rate applied was heterogeneous between 3.5% and 5%; the main analysis unit was the cost per detected carrier couple, followed by cost per averted birth with cystic fibrosis. It was evident that the most cost-effective strategy was preconception screening associated with prenatal test. Conclusions: A marked heterogeneity in the methodology was found, which led to incomparable results and to conclude that there are different approaches to this genetic test.

18F-fluorodeoxyglucose positron emission tomography in management of pancreatic cystic tumors

International Nuclear Information System (INIS)

Zhang Yaojun; Frampton, Adam E.; Martin, Jack L.; Kyriakides, Charis; Bong, Jan Jin; Habib, Nagy A.; Vlavianos, Panagiotis; Jiao, Long R.

2012-01-01

Objectives: To evaluate the effectiveness of PET in differentiating malignant from benign pancreatic cystic tumors. Methods: Between 2009 and 2010, all patients with pancreatic cystic tumors who had PET, triple phase contrast computed tomography (CT) and endoscopic ultrasound (EUS) were reviewed. Clinicopathological characteristics and final histology were correlated with preoperative PET, CT and EUS to assess the value of each modality in detecting malignant from benign lesions for clinical decision-making. Results: Twenty of a total of 116 patients with pancreatic cystic tumors had 18F-FDG PET because of diagnostic difficulties after evaluation with conventional modalities. Sensitivity and specificity of PET in differentiating malignant from benign pancreatic cystic tumors were 100% and 93.75%, with an accuracy of 95%. PET had the best sensitivity, specificity and accuracy for detecting malignant cystic tumors compared with CT and EUS. In 5 cases, the PET results altered the treatment options completely to follow-up instead of surgery (n = 2), limited resection instead of Whipple's resection (n = 1), and surgery instead of follow-up (n = 2). Conclusions: PET is an accurate, non-invasive method to distinguish malignant from benign pancreatic cystic tumors and can be used as an adjunct to facilitate clinical decision making.

Severe bone demineralisation is associated with higher mortality in children with cystic fibrosis.

LENUS (Irish Health Repository)

O'Reilly, R

2009-02-01

Decreased bone mineral density (BMD) is an emerging problem for clinicians who care for children with Cystic fibrosis (CF). The aim of this study was to determine prevalence and assess risk factors for reduced BMD in our adolescent population with CF. All bone densitometry scans (n=99) performed on children (n=79) with a mean age 13.6 (10-19.2) years over a 7 year period (2000-2007) were reviewed. Patient records were reviewed for correlating clinical data. Low BMD is frequently present in adults and children with variable reports (36-66%). In our study, BMD expressed as z score of L2-L4 spine was reduced in a total of 50% children with a preponderance of males. Bone demineralization was strongly associated with increasing age (p=0.03), diminished lung function (p=0.027), reduced body mass index (p=0.001) and treatment with oral corticosteroids (p=0.02).

Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans

Directory of Open Access Journals (Sweden)

Soo Heon Kwak

2015-12-01

Full Text Available Fulminant type 1 diabetes (T1DM is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation. Although it has been reported that class II human leukocyte antigen (HLA genotype is associated with fulminant T1DM, the genetic predisposition is not fully understood. In this study we investigated the HLA genotype and haplotype in 11 Korean cases of fulminant T1DM using imputation of whole exome sequencing data and compared its frequencies with 413 participants of the Korean Reference Panel. The HLA-DRB1*04:05–HLA-DQB1*04:01 haplotype was significantly associated with increased risk of fulminant T1DM in Fisher's exact test (odds ratio [OR], 4.11; 95% confidence interval [CI], 1.56 to 10.86; p = 0.009. A histidine residue at HLA-DRβ1 position 13 was marginally associated with increased risk of fulminant T1DM (OR, 2.45; 95% CI ,1.01 to 5.94; p = 0.054. Although we had limited statistical power, we provide evidence that HLA haplotype and amino acid change can be a genetic risk factor of fulminant T1DM in Koreans. Further large-scale research is required to confirm these findings.

Computed tomography of cystic lung lesions

International Nuclear Information System (INIS)

Grgic, A.; Heinrich, M.; Girmann, M.; Kramann, B.; Wilkens, H.; Uder, M.

2004-01-01

A cystic lesion in the lung is defined as a well-demarcated epithel-lined cavity, that can be mostly filled with air, water, as well as solid material content. This definition includes a wide variety of diseases such as bronchogenic cyst, abscess formation, lymphangioleiomyomatosis, Langerhans cell histiocytosis, emphysema, bronchiectasis, and pneumatoceles. Despite the difficulties in differential diagnosis, there are some diagnostic criteria for CT-scanning helping the radiologist to differentiate between these cystic entities. Moreover, clinical informations are extremely important. The most important clinical parameters include age, sex, clinical history and symptoms. Thus, a better understanding of classic CT appearance of cystic lung disease will allow more definitive diagnosis and could, in some cases, avoid biopsy. (orig.)

Associations between advanced glycation endproducts and matrix metalloproteinases and its inhibitor in individuals with type 1 diabetes

DEFF Research Database (Denmark)

Peeters, S A; Engelen, L; Buijs, J

2018-01-01

the production of MMPs and/or TIMP-1. Therefore, we investigated associations between specific AGEs and MMP-1, -2, -3, -9, and -10, and TIMP-1 in individuals with type 1 diabetes. METHODS: In 670 type 1 diabetic individuals we determined serum levels of protein-bound AGEs Nε-(carboxymethyl)lysine (CML), Nε-(carboxyethyl)lysine......AIMS: Advanced glycation endproducts (AGEs) and altered extracellular matrix remodeling by matrix metalloproteinases (MMPs) and tissue inhibitor of metalloproteinase (TIMP) are associated with vascular complications in type 1 diabetes. Experimental studies have shown that AGEs regulate...... (CEL), 5-hydro-5-methylimidazolone (MG-H1) and pentosidine, and MMP-1, -2, -3, -9, and -10, and TIMP-1. We performed linear regression analyses to investigate associations between AGEs and markers of the MMP-TIMP system. Analyses were adjusted for age, sex, HbA1c and duration of diabetes...

Fetal lung interstitial tumor: the first Japanese case report and a comparison with fetal lung tissue and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3.

Science.gov (United States)

Yoshida, Mariko; Tanaka, Mio; Gomi, Kiyoshi; Iwanaka, Tadashi; Dehner, Louis P; Tanaka, Yukichi

2013-10-01

Fetal lung interstitial tumor, a newly recognized lung lesion in infants, was first reported in 2010. Here, we report the first Japanese case of fetal lung interstitial tumor which was originally diagnosed as atypical congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. A 7-day-old girl was referred to our hospital with respiratory distress and a left lung mass and she subsequently underwent left lower lobectomy. The specimen showed a 5 cm solid mass with a fibrous capsule. Histological examination revealed immature airspaces and interstitium, containing bronchioles and cartilage. The epithelial and interstitial cells contained abundant glycogen granules. Immunohistochemistry showed nuclear/cytoplasmic expression of β-catenin in the epithelial and interstitial cells. β-catenin gene mutations and trisomy 8 were not detected, so a neoplastic origin could not be confirmed. The histological findings were partly consistent with normal fetal lung at the canalicular stage, pulmonary interstitial glycogenosis, and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. In this report, we compare the above conditions and discuss the pathogenesis of fetal lung interstitial tumor. © 2013 The Authors. Pathology International © 2013 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

Sonographic features of tubo-ovarian abscess mimicking an endometrioma and review of cystic adnexal masses

OpenAIRE

Velcani, Artur; Conklin, Patrick; Specht, Neil

2010-01-01

A 36-year-old female presented with constant, worsening left lower quadrant pain without associated fever or vaginal discharge. Pelvic and transvaginal ultrasound examinations were performed which demonstrated a large complex cystic structure in the left adnexa with peripheral flow on color Doppler imaging. Given the sonographic appearance and patient symptoms, possibilities included endometrioma or hemorrhagic cyst. Tubo-ovarian abscess (TOA) and other cystic ovarian masses were considered l...

Unusual growth rate during cystic echinococcosis.

Science.gov (United States)

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

2014-04-01

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

Self-management education for cystic fibrosis.

LENUS (Irish Health Repository)

Savage, Eileen

2011-01-01

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

Enterovirus-associated changes in blood transcriptomic profiles of children with genetic susceptibility to type 1 diabetes.

Science.gov (United States)

Lietzen, Niina; An, Le T T; Jaakkola, Maria K; Kallionpää, Henna; Oikarinen, Sami; Mykkänen, Juha; Knip, Mikael; Veijola, Riitta; Ilonen, Jorma; Toppari, Jorma; Hyöty, Heikki; Lahesmaa, Riitta; Elo, Laura L

2018-02-01

Enterovirus infections have been associated with the development of type 1 diabetes in multiple studies, but little is known about enterovirus-induced responses in children at risk for developing type 1 diabetes. Our aim was to use genome-wide transcriptomics data to characterise enterovirus-associated changes in whole-blood samples from children with genetic susceptibility to type 1 diabetes. Longitudinal whole-blood samples (356 samples in total) collected from 28 pairs of children at increased risk for developing type 1 diabetes were screened for the presence of enterovirus RNA. Seven of these samples were detected as enterovirus-positive, each of them collected from a different child, and transcriptomics data from these children were analysed to understand the individual-level responses associated with enterovirus infections. Transcript clusters with peaking or dropping expression at the time of enterovirus positivity were selected as the enterovirus-associated signals. Strong signs of activation of an interferon response were detected in four children at enterovirus positivity, while transcriptomic changes in the other three children indicated activation of adaptive immune responses. Additionally, a large proportion of the enterovirus-associated changes were specific to individuals. An enterovirus-induced signature was built using 339 genes peaking at enterovirus positivity in four of the children, and 77 of these genes were also upregulated in human peripheral blood mononuclear cells infected in vitro with different enteroviruses. These genes separated the four enterovirus-positive samples clearly from the remaining 352 blood samples analysed. We have, for the first time, identified enterovirus-associated transcriptomic profiles in whole-blood samples from children with genetic susceptibility to type 1 diabetes. Our results provide a starting point for understanding the individual responses to enterovirus infections in blood and their potential connection to

Higher health literacy is associated with better glycemic control in adults with type 1 diabetes

DEFF Research Database (Denmark)

Olesen, Kasper; F. Reynheim, Anne Louise; Joensen, Lene

2017-01-01

Aim Self-management of diabetes is influenced by a range of factors including the ability to access, understand, appraise, and use of health information in everyday life, which can collectively be called health literacy. We investigated associations between nine domains of health literacy and HbA1c...... of nine health literacy domains. This association remained significant after adjusting for educational attainment. Among the domains, ‘Actively managing my health’ had the strongest impact on HbA1c. This was in turn predicted by ‘Appraising health information’, ‘Having sufficient information to manage...... level in people with type 1 diabetes. Methods A cross-sectional study was conducted with 1399 people with type 1 diabetes attending a Danish specialist diabetes clinic. Health literacy was assessed using the nine-domain Health Literacy Questionnaire. The association between health literacy and HbA1c...

Endocytosis and intracellular protein degradation in cystic fibrosis fibroblasts

International Nuclear Information System (INIS)

Jessup, W.; Dean, R.T.

1983-01-01

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

Point shear wave elastography of the pancreas in patients with cystic fibrosis: a comparison with healthy controls.

Science.gov (United States)

Pfahler, Matthias Hermann Christian; Kratzer, Wolfgang; Leichsenring, Michael; Graeter, Tilmann; Schmidt, Stefan Andreas; Wendlik, Inka; Lormes, Elisabeth; Schmidberger, Julian; Fabricius, Dorit

2018-02-19

Manifestations of cystic fibrosis in the pancreas are gaining in clinical importance as patients live longer. Conventional ultrasonography and point shear wave elastography (pSWE) imaging are non-invasive and readily available diagnostic methods that are easy to perform. The aim of this study was to perform conventional ultrasonography and obtain pSWE values in the pancreases of patients with cystic fibrosis and to compare the findings with those of healthy controls. 27 patients with cystic fibrosis (13 women/14 men; mean age 27.7 ± 13.7 years; range 9-58 years) and 60 healthy control subjects (30 women/30 men; mean age 30.3 ± 10.0 years; range 22-55 years) underwent examinations of the pancreas with conventional ultrasound and pSWE imaging. Patients with cystic fibrosis have an echogenic pancreatic parenchyma. We found cystic lesions of the pancreas in six patients. pSWE imaging of the pancreatic parenchyma gave significantly lower shear wave velocities in patients with cystic fibrosis than in the control group (1.01 m/s vs 1.30 m/s; p cystic fibrosis than in a healthy control population.

Recurrent hypoglycaemia in type-1 diabetes mellitus may unravel the association with Addison's disease: a case report.

Science.gov (United States)

Passanisi, Stefano; Timpanaro, Tiziana; Lo Presti, Donatella; Caruso-Nicoletti, Manuela

2014-09-12

Primary adrenocortical insufficiency or Addison's disease is caused by a progressive destruction of the adrenal cortex, resulting into a reduction of glucocorticoids, mineralocorticoids, and androgens. Autoimmune Addison's disease is the most common etiological form, accounting for about 80% of all cases. We describe the case of a 16-year-old Caucasian boy affected by type-1 diabetes mellitus and autoimmune thyroiditis, who experienced recurrent hypoglycaemia as presenting symptom of Addison's disease. Hypoglycaemia is not a common presenting feature of Addison's disease, both in patients with type-1 diabetes mellitus and in non-diabetic patients. However, hypoglycaemia may occur in association with primary and secondary glucocorticoid deficiency as a result of an enhanced insulin sensitivity. Hypoglycaemia is the most common acute complication of insulin therapy in patients with type-1 diabetes mellitus. Addison's disease has been described in approximately 0.5% of patients with type-1 diabetes mellitus, being more frequent in females and occurring in middle-aged patients. An association among type-1 diabetes mellitus, autoimmune thyroiditis, and Addison's disease is found in the "Schmidt's syndrome", a rare disorder that may occur in the paediatric age. Our case suggests that the presence of Addison's disease should be taken into consideration in patients with type-1 diabetes mellitus and frequent episodes of hypoglycaemia. We wish to highlight that there are no specific indications to screen for the association between Addison's disease and type-1 diabetes mellitus, although an early diagnosis of Addison's disease in diabetic patients would prevent the morbidity and potential mortality of this association.

The 1-min sit-to-stand test--A simple functional capacity test in cystic fibrosis?

Science.gov (United States)

Radtke, Thomas; Puhan, Milo A; Hebestreit, Helge; Kriemler, Susi

2016-03-01

We aimed to assess the measurement properties and the minimal important difference (MID) of the 1-min sit-to-stand (STS) test in cystic fibrosis (CF). Patients with CF were tested during a pulmonary rehabilitation program. Five STS tests were performed during the program; two tests at the beginning (STS0 and STS1) and three tests at the end (STS2a-2c). Exercise capacity, pulmonary function, and health-related quality of life (HRQoL) and patient-reported health status were measured at the beginning and end of the program. We calculated overall mean, standard deviation, coefficient of variation (CV), and intraclass correlation coefficient (ICC) of the STS test. The MID was calculated using anchor-based and distributional methods. Fourteen participants (8 female, mean age 30.4±6.1years) were included. STS test performance increased significantly from STS0 to STS1 indicative of a learning effect. Test-retest reliability for the subsequent STS2a-2c tests was excellent (ICC 0.98, 95% CI 0.96-0.99). The estimated MID for the STS test was 5 repetitions. STS test performance was responsive to change (effect size of 0.97) and correlated with exercise capacity (r=0.63-0.73) and with the physical functioning HRQoL scale (r=0.72). The 1-min STS test appears to be a reliable, valid, and feasible test to measure functional capacity in patients with CF. Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

International Nuclear Information System (INIS)

Prabhu, Shailesh M; Choudhury, Subhasis Roy; Solanki, Ravi S; Shetty, Gurucharan S; Agarwala, Surenderkumar

2013-01-01

Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases

Association of salivary triglycerides and cholesterol with dental caries in children with type 1 diabetes mellitus.

Science.gov (United States)

Subramaniam, Priya; Sharma, Akhliesh; Kaje, Keerthan

2015-01-01

Metabolic disturbances in diabetes mellitus can affect oral health. Altered levels of salivary lipids have been suggested as a risk for dental caries. There has been lack of research in this regard and in children with type 1 diabetes mellitus. To assess the salivary triglycerides and cholesterol levels in children with type 1 diabetes mellitus and correlate them with their dental caries status. Thirty children aged 12-16 years with type 1 diabetes mellitus and 30 age- and gender-matched healthy children were included in the study. Unstimulated saliva was collected from each child and evaluated for salivary triglyceride and cholesterol levels. Dental caries status (DMFT) was recorded. Salivary cholesterol and triglyceride levels were significantly higher in children with type 1 diabetes mellitus (p ≤ 0.05). In comparison to controls, mean DMFT score was higher in the diabetic children. Salivary triglycerides showed a significant correlation with dental caries status in the study group (p = 0.035). In normal children, salivary cholesterol levels showed a significant association with dental caries. (p = 0.008). Both salivary cholesterol and triglycerides levels were significantly higher in children with type 1 diabetes mellitus. Salivary triglycerides showed a significant association with dental caries in these children. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

A pilot study of the characterization of hepatic tissue strain in children with cystic-fibrosis-associated liver disease (CFLD) by acoustic radiation force impulse imaging

International Nuclear Information System (INIS)

Behrens, Christopher B.; Langholz, Juliane H.; Eiler, Jessika; Jenewein, Raphael; Fuchs, Konstantin; Alzen, Gerhard F.P.; Naehrlich, Lutz; Harth, Sebastian; Krombach, Gabriele A.

2013-01-01

Progressive fibrotic alterations of liver tissue represent a major complication in children with cystic fibrosis. Correct assessment of cystic-fibrosis-associated liver disease (CFLD) in clinical routine is a challenging issue. Sonographic elastography based on acoustic radiation force impulse imaging (ARFI) is a new noninvasive approach for quantitatively assessing in vivo elasticity of biological tissues in many organs. To characterize ARFI elastography as a diagnostic tool to assess alteration of liver tissue elasticity related to cystic fibrosis in children. ARFI elastography and B-mode US imaging were performed in 36 children with cystic fibrosis. The children's clinical history and laboratory parameters were documented. According to the findings on conventional US, children were assigned to distinct groups indicating severity of hepatic tissue alterations. The relationship between US findings and respective elastography values was assessed. Additionally, differences between ARFI elastography values of each US group were statistically tested. Children with sonomorphologic characteristics of fibrotic tissue remodeling presented significantly increased values for tissue elasticity. Children with normal B-mode US or discrete signs of hepatic tissue alterations showed a tendency toward increased tissue stiffness indicating early tissue remodeling. Assessment of children with CFLD by means of ARFI elastography yields adequate results when compared to conventional US. For detection of early stages of liver disease with mild fibrotic reactions of hepatic tissue, ARFI elastography might offer diagnostic advantages over conventional US. Thus, liver stiffness measured by means of elastography might represent a valuable biological parameter for evaluation and follow-up of CFLD. (orig.)

A pilot study of the characterization of hepatic tissue strain in children with cystic-fibrosis-associated liver disease (CFLD) by acoustic radiation force impulse imaging

Energy Technology Data Exchange (ETDEWEB)

Behrens, Christopher B.; Langholz, Juliane H.; Eiler, Jessika; Jenewein, Raphael; Fuchs, Konstantin; Alzen, Gerhard F.P. [University Hospital Giessen, Department of Pediatric Radiology, Giessen (Germany); Naehrlich, Lutz [University Hospital Giessen, Department of Pediatrics, Giessen (Germany); Harth, Sebastian; Krombach, Gabriele A. [University Hospital Giessen, Department of Radiology, Giessen (Germany)

2013-03-15

Progressive fibrotic alterations of liver tissue represent a major complication in children with cystic fibrosis. Correct assessment of cystic-fibrosis-associated liver disease (CFLD) in clinical routine is a challenging issue. Sonographic elastography based on acoustic radiation force impulse imaging (ARFI) is a new noninvasive approach for quantitatively assessing in vivo elasticity of biological tissues in many organs. To characterize ARFI elastography as a diagnostic tool to assess alteration of liver tissue elasticity related to cystic fibrosis in children. ARFI elastography and B-mode US imaging were performed in 36 children with cystic fibrosis. The children's clinical history and laboratory parameters were documented. According to the findings on conventional US, children were assigned to distinct groups indicating severity of hepatic tissue alterations. The relationship between US findings and respective elastography values was assessed. Additionally, differences between ARFI elastography values of each US group were statistically tested. Children with sonomorphologic characteristics of fibrotic tissue remodeling presented significantly increased values for tissue elasticity. Children with normal B-mode US or discrete signs of hepatic tissue alterations showed a tendency toward increased tissue stiffness indicating early tissue remodeling. Assessment of children with CFLD by means of ARFI elastography yields adequate results when compared to conventional US. For detection of early stages of liver disease with mild fibrotic reactions of hepatic tissue, ARFI elastography might offer diagnostic advantages over conventional US. Thus, liver stiffness measured by means of elastography might represent a valuable biological parameter for evaluation and follow-up of CFLD. (orig.)

Young patients with cystic fibrosis demonstrate subtle alterations of the cardiovascular system.

Science.gov (United States)

Eising, Jacobien B; van der Ent, Cornelis K; Teske, Arco J; Vanderschuren, Maaike M; Uiterwaal, Cuno S P M; Meijboom, Folkert J

2018-02-02

As life expectancy increases in patients with cystic fibrosis, it is important to pay attention to extra-pulmonary comorbidities. Several studies have shown signs of myocardial dysfunction in adult patients, but little is known about onset and development of these changes over time. In this prospective study, cardiac function in children with cystic fibrosis was compared to that of healthy children. 33 children, aged 3-12years, with cystic fibrosis were recruited from the Wilhelmina Children's hospital and 33 age-matched healthy children were selected from the WHISTLER study, a population-based cohort study. Measurements of lung function, arterial stiffness, and echocardiography (conventional measures and myocardial deformation imaging) were performed. There were no differences in anthropometrics, lung function and blood pressure between the two groups. The cystic fibrosis children had a higher arterial stiffness compared to the healthy children (pulse wave velocity respectively 5.76±0.57m/s versus 5.43±0.61m/s, p-value 0.049). Using conventional echocardiographic parameters for right ventricular function, Tricuspid Annular Plane Systolic Excursion) and Tissue Doppler Imaging, cystic fibrosis children had a reduced right ventricular systolic function when compared to the healthy children. After adjustment for lung function, global strains of both right and left ventricles were significantly lower in the cystic fibrosis group than in healthy children (linear regression coefficient 1.45% left ventricle, p-value 0.022 and 4.42% right ventricle, p-value cystic fibrosis children than in healthy controls. Our study suggests that already at a very young age, children with cystic fibrosis show an increased arterial stiffness and some signs of diminished both right and left ventricular function. Copyright © 2018. Published by Elsevier B.V.

The evaluation of selected insomnia predictors in adolescents and young adults with cystic fibrosis.

Science.gov (United States)

Tomaszek, Lucyna; Cepuch, Grazyna; Pawlik, Lidia

2018-03-21

The purpose of the study was to assess the incidence of insomnia in adolescents and young adults with cystic fibrosis and its impact on the quality of life, and to examine whether demographic and clinical factors and negative emotional states are predictors of insomnia in these patients. The study was conducted among 95 cystic fibrosis patients aged 14-25 years. The study used a personal questionnaire survey, the Athens Insomnia Scale, the Cystic Fibrosis Quality of Life Questionnaire, the Hospital Anxiety and Depression Scale, and the Numeric Rating Scale. Insomnia was diagnosed in 38% of cystic fibrosis patients. In patients with insomnia, the level of anxiety (Me: 10 vs. 4; P=0.000) and depression (Me: 6.5 vs. 2; P=0.000) was significantly higher than in the good sleep quality group. The risk of insomnia increases as anxiety (OR: 4.31; 95% CI: 2.20 to 8.41) and depressive symptoms exacerbate (OR: 4.98; 95% CI: 1.84 to 13.43). Insomnia significantly worsens the quality of life in cystic fibrosis patients (ß =-0.5, P=0.000). Insomnia affects a large percentage of cystic fibrosis patients, and anxiety and depression are factors that increase the risk of insomnia. Insomnia decreases the quality of life in cystic fibrosis patients.

Pulmonary cystic disease associated with integumentary and renal manifestations

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Cayetano, Katherine S.; Albertson, Timothy E.; Chan, Andrew L.

2013-01-01

A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces. PMID:24285950

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

DEFF Research Database (Denmark)

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

2018-01-01

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

Acoustic radiation force impulse (ARFI) ultrasound imaging of pancreatic cystic lesions

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D' Onofrio, M., E-mail: mirko.donofrio@univr.it [Department of Radiology, University Hospital G.B. Rossi, Piazzale L.A. Scuro 10, University of Verona, 37134 Verona (Italy); Gallotti, A. [Department of Radiology, University Hospital G.B. Rossi, Piazzale L.A. Scuro 10, University of Verona, 37134 Verona (Italy); Salvia, R. [Department of Surgery, University Hospital G.B. Rossi, Piazzale L.A. Scuro 10, University of Verona, 37134 Verona (Italy); Capelli, P. [Department of Pathology, University Hospital G.B. Rossi, Piazzale L.A. Scuro 10, University of Verona, 37134 Verona (Italy); Mucelli, R. Pozzi [Department of Radiology, University Hospital G.B. Rossi, Piazzale L.A. Scuro 10, University of Verona, 37134 Verona (Italy)

2011-11-15

Purpose: To evaluate the ARFI ultrasound imaging with Virtual Touch tissue quantification in studying pancreatic cystic lesions, compared with phantom fluid models. Materials and methods: Different phantom fluids at different viscosity or density (water, iodinate contrast agent, and oil) were evaluated by two independent operators. From September to December 2008, 23 pancreatic cystic lesions were prospectively studied. All lesions were pathologically confirmed. Results: Non-numerical values on water and numerical values on other phantoms were obtained. Inter-observer evaluation revealed a perfect correlation (rs = 1.00; p < 0.0001) between all measurements achieved by both operators per each balloon and fluid. Among the pancreatic cystic lesions, 14 mucinous cystadenomas, 4 pseudocysts, 3 intraductal papillary-mucinous neoplasms and 2 serous cystadenomas were studied. The values obtained ranged from XXXX/0-4,85 m/s in mucinous cystadenomas, from XXXX/0-3,11 m/s in pseudocysts, from XXXX/0-4,57 m/s in intraductal papillary-mucinous neoplasms. In serous cystadenomas all values measured were XXXX/0 m/s. Diagnostic accuracy in benign and non-benign differentiation of pancreatic cystic lesions was 78%. Conclusions: Virtual Touch tissue quantification can be applied in the analysis of fluids and is potentially able to differentiate more complex (mucinous) from simple (serous) content in studying pancreatic cystic lesions.

Acoustic radiation force impulse (ARFI) ultrasound imaging of pancreatic cystic lesions

International Nuclear Information System (INIS)

D'Onofrio, M.; Gallotti, A.; Salvia, R.; Capelli, P.; Mucelli, R. Pozzi

2011-01-01

Purpose: To evaluate the ARFI ultrasound imaging with Virtual Touch tissue quantification in studying pancreatic cystic lesions, compared with phantom fluid models. Materials and methods: Different phantom fluids at different viscosity or density (water, iodinate contrast agent, and oil) were evaluated by two independent operators. From September to December 2008, 23 pancreatic cystic lesions were prospectively studied. All lesions were pathologically confirmed. Results: Non-numerical values on water and numerical values on other phantoms were obtained. Inter-observer evaluation revealed a perfect correlation (rs = 1.00; p < 0.0001) between all measurements achieved by both operators per each balloon and fluid. Among the pancreatic cystic lesions, 14 mucinous cystadenomas, 4 pseudocysts, 3 intraductal papillary-mucinous neoplasms and 2 serous cystadenomas were studied. The values obtained ranged from XXXX/0-4,85 m/s in mucinous cystadenomas, from XXXX/0-3,11 m/s in pseudocysts, from XXXX/0-4,57 m/s in intraductal papillary-mucinous neoplasms. In serous cystadenomas all values measured were XXXX/0 m/s. Diagnostic accuracy in benign and non-benign differentiation of pancreatic cystic lesions was 78%. Conclusions: Virtual Touch tissue quantification can be applied in the analysis of fluids and is potentially able to differentiate more complex (mucinous) from simple (serous) content in studying pancreatic cystic lesions.

Neonatal vitamin D status is not associated with later risk of type 1 diabetes

DEFF Research Database (Denmark)

Jacobsen, Ramune; Thorsen, Steffen U; Cohen, Arieh S

2016-01-01

)D levels type 1 diabetes risk. Whether higher levels of 25(OH)D3during pregnancy, acquired by higher doses of supplementation than are recommended......Aims/hypothesis: The aim of this work was to assess whether neonatal levels of 25-hydroxyvitamin D (25(OH)D) are associated with risk of developing type 1 diabetes before the age of 18 years. Methods: Two large-scale studies with different designs—a case-cohort and a case–control—were conducted...... spectrometry. Quintiles of 25(OH)D3were used in the main analyses. Results: The case-cohort study included 912 type 1 diabetes cases and 2866 individuals without type 1 diabetes born in Denmark between 1981 and 2002 and followed up until the end of 2012. The case–control study included 527 matched case...

Interdisciplinary Management of Cystic Neoplasms of the Pancreas

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Linda S. Lee

2012-01-01

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

Responsive parenting is associated with improved type 1 diabetes-related quality of life.

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Botello-Harbaum, M; Nansel, T; Haynie, D L; Iannotti, R J; Simons-Morton, B

2008-09-01

Improved quality of life is an important treatment goal for children and adolescents with type 1 diabetes. While previous research supports a relationship between family environment and quality of life, little research has addressed the relationship of parenting style constructs to quality of life in children with chronic disease. The present investigation assesses the relationship of parent responsiveness and demandingness with diabetes-related quality of life among children and adolescents with type 1 diabetes. Baseline and 12-month follow-up self-report assessments were collected on a sample of 81 children with type 1 diabetes participating in an efficacy trial of a behavioural intervention to enhance adherence. The sample had a mean age of 13.3 years (SD=1.7) and duration of diabetes of 7.7 years (SD=3.7). Multiple regression analyses were conducted to determine the relationship of parent responsiveness and demandingness to diabetes-related quality of life at each time point. After adjusting for demographic and diabetes characteristics, as well as diabetes-specific parent-child behaviours, parent responsiveness was significantly associated with baseline diabetes-related quality of life (beta=0.23; P=0.04). This relationship was sustained at 12-month follow-up (beta=0.22; P=0.04) after adjusting for baseline quality of life and treatment group assignment, suggesting that parent responsiveness is associated with improved quality of life. Findings indicate the importance of a supportive and emotionally warm parenting style in promoting improved quality of life for children with type 1 diabetes. Appropriate parenting skills should be an element of diabetes family management health care.

MRI of cystic collection of the three joint

International Nuclear Information System (INIS)

Boutry, N.; Cotten, A.; Dewatre, F.; Chastanet, P.; Gougeon, F.

1997-01-01

We present the main MR features of cystic lesions around the knee joint. Popliteal cysts are the most frequently seen. The usually result from extrusion of joint fluid into the gastrocnemio-semimembranosus bursa but they can have an atypical location or extension. They are most often due to a meniscal, ligamentous, degenerative or inflammatory joint disease responsible for a chronic joint effusion. Meniscal cysts are always associated with a horizontal tear. Medial meniscal cysts are larger and can extend far from the joint. Bursitis occur as a result of inflammation or infection of a bursa. Their location is stereotyped and they do not communicate with the knee joint. Ganglion cysts or ganglia are benign cystic lesions which can affect peri-articular tissues as well as subchondral bone or cruciate ligaments. MRI is now a simple and noninvasive way of obtaining etiologic diagnosis and guiding therapy. (authors)

Association of faecal elastase 1 with non-fasting triglycerides in type 2 diabetes.

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Rathmann, Wolfgang; Haastert, Burkhard; Oscarsson, Jan; Berglind, Niklas; Lindkvist, Björn; Wareham, Nicholas J

2016-01-01

Intestinal absorption of esterified fatty acids depends on exocrine pancreatic function and influences plasma triglycerides levels. The aim was to investigate the association of reduced exocrine pancreatic function (low fecal elastase-1; FE1) with plasma triglycerides in type 2 diabetes and controls without diabetes. FE1 (μg/g stool) and non-fasting plasma triglyceride measurements were undertaken in 544 type 2 diabetes patients (age: 63 ± 8 years) randomly selected from diabetes registers in Cambridgeshire (UK), and 544 matched controls (age, sex, practice) without diabetes. Linear regression models were fitted using FE1 as dependent and log-triglycerides as independent variable adjusting for sex, age, body mass index, alcohol consumption, serum lipase, HbA1c, and smoking. FE1 concentrations were lower (mean ± SD: 337 ± 204 vs. 437 ± 216 μg/g, p triglycerides were higher (geometric mean */: standard deviation factor: 2.2*/:1.9 vs. 1.6*/:1.8 mmol/l, p triglycerides was associated with 4.5 μg/g higher FE1 concentrations (p triglycerides (significant only in controls). Non-fasting triglycerides were positively related to FE1 in both type 2 diabetes and controls suggesting that impairment of exocrine pancreas function is influencing plasma triglycerides. Marked loss of exocrine pancreatic function had the opposite effect, resulting in higher levels of plasma triglycerides. Copyright © 2016 IAP and EPC. Published by Elsevier B.V. All rights reserved.

Pulmonary sequestration with histologic changes of cystic adenomatoid malformation

International Nuclear Information System (INIS)

Morin, C.; Filiatrault, D.; Russo, P.

1989-01-01

Pulmonary sequestration and congenital cystic adenomatoid malformation (CCAM) are two infrequent congenital pulmonary diseases. The combination of these two entities is rare. We report a case where the antenatal ultrasonography showed a left pulmonary mass suggesting CCAM. The US done after birth revealed an aberrant vascularisation. Pathologic examination confirmed the association of both lesions. (orig.)

Monocytes from cystic fibrosis patients are locked in an LPS tolerance state: down-regulation of TREM-1 as putative underlying mechanism.

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Carlos del Fresno

Full Text Available Cystic Fibrosis (CF is an inherited pleiotropic disease that results from abnormalities in the gene that codes for the chloride channel, Cystic Fibrosis Transmembrane Conductance Regulator (CFTR. CF patients are frequently colonized by several pathogens, but the mechanisms that allow colonization in spite of apparently functional immune systems are incompletely understood. In this paper we show that blood peripheral monocytes isolated from CF patients are found in an endotoxin tolerance state, yet this is not due to a deficient TLR activation. On the other hand, levels of the amplifier of inflammatory responses, TREM-1 (Triggering Receptor Expressed on Myeloid cells, are notably down-regulated in monocytes from patients, in comparison to those extracted from healthy volunteers. Furthermore, the soluble form of TREM-1 (sTREM-1 was not detected in the sera of patients. Additionally, and in strict contrast to patients who suffer from Chronic Obstructive Pulmonary Disease (COPD, CF monocytes challenged ex vivo with LPS neither up-regulated membrane-anchored TREM-1 nor sTREM-1. Finally, similar levels of PGE(2 expression and p65 translocation into the nucleus were found in both patients and healthy volunteers, thus suggesting that TREM-1 regulation is neither controlled by PGE(2 levels nor by p65 activation in this case. However, PU.1 translocation into the nucleus was significantly higher in CF monocytes than in controls, suggesting a role for this transcription factor in the control of TREM-1 expression. We conclude that down-regulation of TREM-1 expression in cystic fibrosis patients is at least partly responsible for the endotoxin tolerance state in which their monocytes are locked.

Comorbidity of Depression and Anxiety: Association with Poor Quality of Life in Type 1 and 2 Diabetic Patients

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de Ornelas Maia, Ana Claudia C.; Braga, Arthur de Azevedo; Paes, Flávia; Machado, Sergio; Carta, Mauro Giovanni; Nardi, Antonio Egidio; Silva, Adriana Cardoso

2013-01-01

Background: Diabetes is associates with depression and impairment in Quality of Life (QoL). Objective: The objective is to define the frequencies of depressive and anxiety symptoms in a sample of patients diagnosed with type 1 and 2 diabetes, the amount of impairment of QoL and the weight of depression and anxiety in determining the QoL in such of patients. Methods: A total of 210 patients were divided into two groups (type 1 and type 2). Patients completed the HADS and WHOQoL-bref. Results: Groups showed a high prevalence of anxiety (type 1 = 60%, type 2 = 43.8%) and depression (type 1 = 52.4%, type 2 = 38.1%), both measures were significantly higher (p < 0.05) in diabetes type 1 patients. Type 1 patients also showed a QoL in the overall assessment and the physical, psychological and social relations domains. In both Type 1 and 2 diabetes poor QoL was found associated by anxiety and depression comorbidity. Conclusion: In overall diabetes patients depression and anxiety seems to be a determinant of poor QoL. PMID:23935696

Retreatment of Recurrent Cystic Craniopharyngioma With Chromic Phosphorus P 32

Science.gov (United States)

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

European Cystic Fibrosis Society Standards of Care

DEFF Research Database (Denmark)

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

2014-01-01

Since the earliest days of cystic fibrosis (CF) treatment, patient data have been recorded and reviewed in order to identify the factors that lead to more favourable outcomes. Large data repositories, such as the US Cystic Fibrosis Registry, which was established in the 1960s, enabled successful ...... to indicators of health, the role of CF Centres, regional networks, national health policy, and international data registration and comparisons.......Since the earliest days of cystic fibrosis (CF) treatment, patient data have been recorded and reviewed in order to identify the factors that lead to more favourable outcomes. Large data repositories, such as the US Cystic Fibrosis Registry, which was established in the 1960s, enabled successful...... therapies, approaches to care and indeed data recording. The quality of care for individuals with CF has become a focus at several levels: patient, centre, regional, national and international. This paper reviews the quality management and improvement issues at each of these levels with particular reference...

Immunoreactive trypsin and neonatalscreening for cystic fibrosis

International Nuclear Information System (INIS)

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

1988-01-01

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

No association of the IRS1 and PAX4 genes with type I diabetes

DEFF Research Database (Denmark)

Bergholdt, R.; Brorsson, C.; Boehm, B.

2009-01-01

To reassess earlier suggested type I diabetes (T1D) associations of the insulin receptor substrate 1 (IRS1) and the paired domain 4 gene (PAX4) genes, the Type I Diabetes Genetics Consortium (T1DGC) evaluated single-nucleotide polymorphisms (SNPs) covering the two genomic regions. Sixteen SNPs we...... of tagging SNPs, more than one genotyping platform in high throughput studies, and sufficient power to draw solid conclusions in genetic studies of human complex diseases. Genes and Immunity (2009) 10, S49-S53; doi:10.1038/gene.2009.91 Udgivelsesdato: 2009/12...

Cystic Fibrosis-Related Diabetes

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Kayani Kayani

2018-02-01

Full Text Available Cystic fibrosis (CF is the most common autosomal recessive disorder in Caucasian populations. Individuals with CF have seen significant increases in life expectancy in the last 60 years. As a result, previously rare complications are now coming to light. The most common of these is cystic fibrosis-related diabetes (CFRD, which affects 40–50% of CF adults. CFRD significantly impacts the pulmonary function and longevity of CF patients, yet a lack of consensus on the best methods to diagnose and treat CFRD remains. We begin by reviewing our understanding of the pathogenesis of CFRD, as emerging evidence shows the cystic fibrosis transmembrane conductance regulator (CFTR also has important roles in the release of insulin and glucagon and in the protection of β cells from oxidative stress. We then discuss how current recommended methods of CFRD diagnosis are not appropriate, as continuous glucose monitoring becomes more effective, practical, and cost-effective. Finally, we evaluate emerging treatments which have narrowed the mortality gap within the CF patient group. In the future, pharmacological potentiators and correctors directly targeting CFTR show huge promise for both CFRD and the wider CF patient groups.

Contrast-enhanced multidetector computerized tomography for odontogenic cysts and cystic-appearing tumors of the jaws: is it useful?

Science.gov (United States)

Kakimoto, Naoya; Chindasombatjaroen, Jira; Tomita, Seiki; Shimamoto, Hiroaki; Uchiyama, Yuka; Hasegawa, Yoko; Kishino, Mitsunobu; Murakami, Shumei; Furukawa, Souhei

2013-01-01

The purpose of this study was to investigate the usefulness of computerized tomography (CT), particularly contrast-enhanced CT, in differentiation of jaw cysts and cystic-appearing tumors. We retrospectively analyzed contrast-enhanced CT images of 90 patients with odontogenic jaw cysts or cystic-appearing tumors. The lesion size and CT values were measured and the short axis to long axis (S/L) ratio, contrast enhancement (CE) ratio, and standard deviation ratio were calculated. The lesion size and the S/L ratio of keratocystic odontogenic tumors were significantly different from those of radicular cysts and follicular cysts. There were no significant differences in the CE ratio among the lesions. Multidetector CT provided diagnostic information about the size of odontogenic cysts and cystic-appearing tumors of the jaws that was related to the lesion type, but showed no relation between CE ratio and the type of these lesions. Copyright © 2013 Elsevier Inc. All rights reserved.

Customer satisfaction survey to improve the European cystic fibrosis external quality assessment scheme.

Science.gov (United States)

Berwouts, Sarah; Dequeker, Elisabeth

2011-08-01

The Cystic Fibrosis European Network, coordinated from within the Katholieke Universiteit Leuven, is the provider of the European cystic fibrosis external quality assessment (EQA) scheme. The network aimed to seek feedback from laboratories that participated in the cystic fibrosis scheme in order to improve services offered. In this study we analysed responses to an on-line customer satisfaction survey conducted between September and November 2009. The survey was sent to 213 laboratories that participated in the cystic fibrosis EQA scheme of 2008; 69 laboratories (32%) responded. Scores for importance and satisfaction were obtained from a five-point Likert scale for 24 attributes. A score of one corresponded to very dissatisfied/very unimportant and five corresponded to very satisfied/very important. Means were calculated and placed in a two-dimensional grid (importance-satisfaction analysis). Means were subtracted from each other to obtain gap values (gap-analysis). No attribute had a mean score below 3.63. The overall mean of satisfaction was 4.35. Opportunities for improvement enclosed clarity, usefulness and completeness of the general report and individual comments, and user-friendliness of the electronic datasheet. This type of customer satisfaction survey was a valuable instrument to identify opportunities to improve the cystic fibrosis EQA scheme. It should be conducted on a regular basis to reveal new opportunities in the future and to assess effectiveness of actions taken. Moreover, it could be a model for other EQA providers seeking feedback from participants. Overall, the customer satisfaction survey provided a powerful quality of care improvement tool.

The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes

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Vanelli Maurizio

2011-03-01

Full Text Available Abstract Background The protein tyrosine phosphatase nonreceptor type 2 (PTPN22 has been established as a type 1 diabetes susceptibility gene. A recent study found the C1858T variant of this gene to be associated with lower residual fasting C-peptide levels and poorer glycemic control in patients with type 1 diabetes. We investigated the association of the C1858T variant with residual beta-cell function (as assessed by stimulated C-peptide, proinsulin and insulin dose-adjusted HbA1c, glycemic control, daily insulin requirements, diabetic ketoacidosis (DKA and diabetes-related autoantibodies (IA-2A, GADA, ICA, ZnT8Ab in children during the first year after diagnosis of type 1 diabetes. Methods The C1858T variant was genotyped in an international cohort of children (n = 257 patients with newly diagnosed type 1 diabetes during 12 months after onset. We investigated the association of this variant with liquid-meal stimulated beta-cell function (proinsulin and C-peptide and antibody status 1, 6 and 12 months after onset. In addition HbA1c and daily insulin requirements were determined 1, 3, 6, 9 and 12 months after diagnosis. DKA was defined at disease onset. Results A repeated measurement model of all time points showed the stimulated proinsulin level is significantly higher (22%, p = 0.03 for the T allele carriers the first year after onset. We also found a significant positive association between proinsulin and IA levels (est.: 1.12, p = 0.002, which did not influence the association between PTPN22 and proinsulin (est.: 1.28, p = 0.03. Conclusions The T allele of the C1858T variant is positively associated with proinsulin levels during the first 12 months in newly diagnosed type 1 diabetes children.

Costs Associated with Surgically Treated Cases of Abdominal Cystic Echinococcosis: A Single Center's Experience from 2008 to 2014, Pavia, Italy.

Science.gov (United States)

Narra, Roberta; Maestri, Marcello; Budke, Christine M; Tamarozzi, Francesca; Mariconti, Mara; Nicoletti, Giovanni J; Rinaldi, Francesca; Brunetti, Enrico

2016-08-03

Cystic echinococcosis (CE) is a globally distributed zoonosis caused by the Echinococcus granulosus sensu lato species complex. Four approaches are available for treatment of abdominal CE: surgery, percutaneous aspiration, chemotherapy with albendazole, and watch-and-wait. Allocation of patients to these different treatment options mainly depends on the stage of the cystic lesion. However, as available guidelines are not widely followed, surgery is often applied even without the correct indication outside referral centers. This is not only a disadvantage for the patient, but also a waste of money. In this study, we evaluated the cost of the surgical approach for abdominal CE by analyzing hospitalization costs for 14 patients admitted to the General Surgery Ward at the "San Matteo" Hospital Foundation in Pavia, Italy, from 2008 through 2014. We found that the total cost of a single hospitalization, including hospital stay, surgical intervention, personnel, drugs, and administrative costs ranged from €5,874 to 23,077 (median €11,033) per patient. Our findings confirm that surgery can be an expensive option. Therefore, surgical intervention should be limited to cyst types that do not benefit from nonsurgical therapies and appropriate case management can best be accomplished by using a cyst stage-specific approach. © The American Society of Tropical Medicine and Hygiene.

Risk of gastrointestinal cancers in patients with cystic fibrosis: a systematic review and meta-analysis.

Science.gov (United States)

Yamada, Akihiro; Komaki, Yuga; Komaki, Fukiko; Micic, Dejan; Zullow, Samantha; Sakuraba, Atsushi

2018-04-26

The management and life expectancy of patients with cystic fibrosis have improved substantially in the past three decades, which has resulted in an increased number of these patients being diagnosed with malignancies. Our aim was to assess the risk of gastrointestinal cancers in patients with cystic fibrosis. In this systematic review and meta-analysis, we searched PubMed, MEDLINE, Google Scholar, Scopus, Embase, and Cochrane databases with no language restrictions for studies published from inception of the databases to Aug 1, 2017, assessing the risk of gastrointestinal cancers in patients with cystic fibrosis. We also searched abstracts from scientific meetings and the bibliographies of identified articles for additional references. Studies were included if they reported the standardised incidence ratio (SIR) or incidence ratio per person-years. No exclusion criteria with regard to patient characteristics (age, sex, comorbidities, cystic fibrosis mutation type), study setting (location and time period), or method of reporting cancer diagnoses were applied. The primary outcome was risk of gastrointestinal cancer and site-specific gastrointestinal cancers in patients with cystic fibrosis compared with the general population. Pooled summary estimates were calculated using a random-effects model, and subgroup analyses were done to establish whether risk of gastrointestinal cancer varied according to patient lung transplant status. The study is registered with PROSPERO, number CRD42017075396. Our search identified 95 681 records, of which six cohort studies including 99 925 patients (544 695 person-years) were eligible for the meta-analysis. The overall risk of gastrointestinal cancer was significantly higher in patients with cystic fibrosis than in the general population (pooled SIR 8·13, 95% CI 6·48-10·21; pcystic fibrosis who had a lung transplant was increased compared with that of patients who did not receive a transplant (pooled SIR 21·13, 95% CI 14�

Chronic osteitic rhinosinusitis as a manifestation of cystic fibrosis: A case report

Energy Technology Data Exchange (ETDEWEB)

Jadhav, Aniket B. [Dept. of Diagnostic and Biomedical Sciences, The University of Texas School of Dentistry at Houston, Houston (United States); Lurie, Alan G.; Tadinata, Aditya [Dept. of Diagnostic Sciences, Oral and Maxillofacial Radiology, The University of Connecticut School of Dental Medicine, Farmington (United States)

2014-09-15

A 28 year old male patient with a history of cystic fibrosis (CF) was referred to the University of Connecticut School of Dental Medicine for an evaluation of a cystic lesion in the right maxilla using cone-beam computed tomography (CBCT). CF is an autosomal recessive disease characterized by an abnormal production of viscous mucus, affecting the mucociliary clearance. The CBCT scan revealed a large cystic lesion in the right maxilla extending from the right maxillary second molar to the midline in the region of the right central incisor with a significant buccal expansion. Further evaluation revealed complete opacification of the paranasal sinuses with medial bulging of the lateral maxillary sinus walls. The maxillary and sphenoid sinuses also appeared hypoplastic. The peculiar finding seen in this case was the presence of marked sclerosis and an increase in the thickness of the adjacent bony framework. This report aimed to describe the common sinonasal findings associated with CF and its underlying pathophysiology.

A case report of corgenotal cystic adenomatoid malformation

International Nuclear Information System (INIS)

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

1987-01-01

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

Cystic fibroadenoma of the breast: a case report.

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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.

PECULIARITIES OF ENT-DAMAGE IN CHILDREN WITH CYSTIC FIBROSIS

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I.V. Martynova

2011-01-01

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

Adenoid cystic carcinoma of the nasal septum: A rare case report

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Basavaraj P Belaldavar

2013-01-01

Full Text Available A 60-year-old male patient came to ENT OPD with complaints of left nasal obstruction from the last 5 years and moderate quantity of epistaxis from the last 4 months. It was associated with foul smelling mucopurulent rhinorrhea. On clinical examination, a fleshy mass was seen occupying the posterior part of left nasal cavity and displacing the septum on the right side. The mass was relatively painful, soft, and bleeding on touch. The provisional diagnosis of "vascular-tumor-like" angiofibroma was suspected. Diagnostic nasal endoscopy and CT scan PNS were done which revealed a mass occupying the left nasal cavity arising from the posterior part of septum along the choanae till the anterior part of sphenoid sinus. Biopsy of the same revealed an adenoid cystic carcinoma. Adenoid cystic carcinoma is uncommon and that too of the nasal cavity. The cases of the adenoid cystic carcinoma involving the nasal cavity usually involves the lateral wall and the involvement of the posterior part of nasal septum is extremely rare. Thus the presentation of this uncommon disease is discussed here.

Cystic neuroblastoma: a case report

International Nuclear Information System (INIS)

Duran, A.; Lorente, M.L.; Fernandez, C.

1997-01-01

Neuroblastoma is the most common neonatal malignant tumor. Hemorrhage and necrosis are usual features of this lesion, but it rarely presents a totally cyst form. We report a case of cystic neuroblastoma detected on prenatal ultrasound and stress the need to include it in the differential diagnosis of cystic abdominal masses in the newborn. Ultrasound is the method of choice for assessing abdominal masses in children. However, magnetic resonance has been shown to be more advantageous for the study and follow-up of neuroblastomas. (Author) 16 refs

Personalized medicine for cystic fibrosis: establishing human model systems.

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Mou, Hongmei; Brazauskas, Karissa; Rajagopal, Jayaraj

2015-10-01

With over 1,500 identifiable mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that result in distinct functional and phenotypical abnormalities, it is virtually impossible to perform randomized clinical trials to identify the best therapeutics for all patients. Therefore, a personalized medicine approach is essential. The only way to realistically accomplish this is through the development of improved in vitro human model systems. The lack of a readily available and infinite supply of human CFTR-expressing airway epithelial cells is a key bottleneck. We propose that a concerted two-pronged approach is necessary for patient-specific cystic fibrosis research to continue to prosper and realize its potential: (1) more effective culture and differentiation conditions for growing primary human airway and nasal epithelial cells and (2) the development of collective protocols for efficiently differentiating disease- and patient-specific induced pluripotent stem cells (iPSC) into pure populations of adult epithelial cells. Ultimately, we need a personalized human model system for cystic fibrosis with the capacity for uncomplicated bankability, widespread availability, and universal applicability for patient-specific disease modeling, novel pharmacotherapy investigation and screening, and readily executable genetic modification. © 2015 Wiley Periodicals, Inc.

No association between the protein tyrosine phosphatase, receptor-type, Z Polypeptide 1 (PTPRZ1) gene and schizophrenia in the Japanese population.

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Ito, Yoshihito; Yamada, Shinnosuke; Takahashi, Nagahide; Saito, Shinichi; Yoshimi, Akira; Inada, Toshiya; Noda, Yukihiro; Ozaki, Norio

2008-10-05

NRG1-ERBB signaling influences the risk for schizophrenia pathology. A recent study has reported that MAGI1, MAGI2, and protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1; located on 7q31.3) gene products regulate the NRG1-ERBB4 signaling pathway, and PTPRZ1 is associated with schizophrenia in a Caucasian population. By applying a gene-based association concept, we analyzed any association between PTPRZ1 tagging SNPs and schizophrenia in the Japanese population (576 schizophrenics and 768 controls). After linkage disequilibrium analysis, 29 single nucleotide polymorphisms (SNPs) were genotyped using a 5'-exonuclease allelic discrimination assay. We found a significant association of one tagging SNP in a genotype-wise analysis (P = 0.007); however, this might be resulted from type I error due to multiple testing (P = 0.17 after SNPSpD correction). No association was observed between schizophrenic patients and controls in either allelic, genotypic, or haplotypic analyses. Our results therefore suggest that PTPRZ1 is unlikely to be related to the development of schizophrenia in the Japanese population.

Dynamic multislice helical CT of maxillomandibular lesions. Distinction of ameloblastomas from other cystic lesions

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Tozaki, Mitsuhiro; Hayashi, Katsuhiko; Fukuda, Kunihiko [Jikei Univ., Tokyo (Japan). School of Medicine

2001-10-01

The purpose of this study was to evaluate the clinical usefulness of dynamic multislice helical CT in differentiating ameloblastoma from other cystic lesions in cases of maxillomandibular cystic lesions. The study included 32 patients with maxillomandibular cystic lesions (ameloblastoma [n=6], myxofibroma [n=1], odontogenic keratocyst [n=3], dentigerous cyst [n=11], radicular cyst [n=11], and paradental cyst [n=2]). Dynamic study was performed before and 30 sec, and 90 sec after intravenous contrast medium administration. CT density values and percentage of density increase were calculated at 30 and 90 sec. In five cases of ameloblastoma, a rapidly enhancing area was detected within the cystic lesions at 30 sec, while no apparent rapid enhancement was seen in the other cystic lesions. Three cysts showed gradual enhancement in the marginal area at 90 sec. Comparing ameloblastoma and other kinds of cysts, we found significant differences in the percentage of density increase at 30 sec (p<0.01) and 90 sec (p<0.05). Dynamic multislice helical CT is useful in the diagnosis of cystic lesions of the maxillomandibular region, especially in the detection of neovascularities in ameloblastoma. (author)

Dynamic multislice helical CT of maxillomandibular lesions. Distinction of ameloblastomas from other cystic lesions

International Nuclear Information System (INIS)

Tozaki, Mitsuhiro; Hayashi, Katsuhiko; Fukuda, Kunihiko

2001-01-01

The purpose of this study was to evaluate the clinical usefulness of dynamic multislice helical CT in differentiating ameloblastoma from other cystic lesions in cases of maxillomandibular cystic lesions. The study included 32 patients with maxillomandibular cystic lesions (ameloblastoma [n=6], myxofibroma [n=1], odontogenic keratocyst [n=3], dentigerous cyst [n=11], radicular cyst [n=11], and paradental cyst [n=2]). Dynamic study was performed before and 30 sec, and 90 sec after intravenous contrast medium administration. CT density values and percentage of density increase were calculated at 30 and 90 sec. In five cases of ameloblastoma, a rapidly enhancing area was detected within the cystic lesions at 30 sec, while no apparent rapid enhancement was seen in the other cystic lesions. Three cysts showed gradual enhancement in the marginal area at 90 sec. Comparing ameloblastoma and other kinds of cysts, we found significant differences in the percentage of density increase at 30 sec (p<0.01) and 90 sec (p<0.05). Dynamic multislice helical CT is useful in the diagnosis of cystic lesions of the maxillomandibular region, especially in the detection of neovascularities in ameloblastoma. (author)

Agenesis of the gallbladder with hypoplastic cystic duct diagnosed at laparoscopy.

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Kwon, A-Hon; Yanagimoto, Hiroaki; Matsui, Yoichi; Imamura, Atsushi

2006-08-01

An 86-year-old man was admitted to our department with complaints of intermittent upper abdominal pain. Ultrasonography of the abdomen showed dilated extrahepatic bile ducts containing stones; however, the gallbladder was not clearly identified. Magnetic resonance cholangiopancreatography showed dilated extrahepatic ducts and choledocholithiasis without gallbladder visualization. The stone extraction was performed with endoscopic sphincterotomy. Three-dimensional images using spiral-computed tomography after intravenous-infusion cholangiography clearly demonstrated an obstruction of the cystic duct. The patient was scheduled for laparoscopic cholecystectomy. At laparoscopy, the gallbladder fossa was not identified on the undersurface of the liver. Despite a thorough examination of the intrahepatic (left-sided within the lesser omentum), retroperitoneal, retrohepatic (within the falciform ligament), retroduodenal, and retropancreatic areas using laparoscopic ultrasonography, the gallbladder was not found. After careful dissection of the hepatoduodenal ligament, the dilated extrahepatic bile duct and a 1-cm length of hypoplastic cystic duct were found. Gallbladder agenesis is usually accompanied by the lack of the cystic duct. The present case is the third report of gallbladder agenesis with a patent or hypoplastic cystic duct.

Placental triglyceride accumulation in maternal type 1 diabetes is associated with increased lipase gene expression

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Lindegaard, Marie Louise Skakkebæk; Damm, Peter; Mathiesen, Elisabeth R

2006-01-01

Maternal diabetes can cause fetal macrosomia and increased risk of obesity, diabetes, and cardiovascular disease in adulthood of the offspring. Although increased transplacental lipid transport could be involved, the impact of maternal type 1 diabetes on molecular mechanisms for lipid transport...... in placenta is largely unknown. To examine whether maternal type 1 diabetes affects placental lipid metabolism, we measured lipids and mRNA expression of lipase-encoding genes in placentas from women with type 1 diabetes (n = 27) and a control group (n = 21). The placental triglyceride (TG) concentration....... These results suggest that maternal type 1 diabetes is associated with TG accumulation and increased EL and HSL gene expression in placenta and that optimal metabolic control reduces these effects....

The diagnostic analysis using the CT scan, of cystic lesions in the cranial basis in pediatric cases

International Nuclear Information System (INIS)

Oshida, Kinya; Ishimori, Shoji; Okada, Ryoho.

1978-01-01

It is the purpose of this paper to evaluate the low-density lesions of those pediatric cases which were treated at this hospital in the six months beginning July, 1977, using a CT scan, EMI-1010 Type. Among 1500 consecutive cases diagnosed with the CT scan, 300 pediatric cases were included. We discuss particularly eight patients, two with arachnoidal cysts, two with cystic craniopharyngiomas, two with cystic cerebellar astrocytomas and two with Dandy-Walker syndromes, one of which was accompanied by corpus callosum agenesis. The distribution of ages was from 2 to 12 years. We calculated the matrix of each slice of these patients, CT scan in the cystic lesions, the area including the cystic lesion, ventricles and brain tissue, predominantly the white matter or interhemispheric cortex including white matter, without dye enhancement. The x-ray absorption values of the low-density lesions were definitely different according to the nature of the cystic contents. The mean values of x-ray absorption, the standard deviations, and the sample sizes of each area in the matrix were compared statistically with those of cystic lesions. The mean values of the arachnoidal cysts, the contents of which were almost like CSF, were 17 - 21; that of cystic craniopharyngiomas, the contents of which were a thick yellowic fluid with cholesterin crystals, were 23 - 28; those of cerebellar astrocytomas, with Froin positive fluid, were 22 - 24; the cystic lesions of the posterior fossa in the Dandy-Walker syndrome were 8 - 13. The difference in the x-ray absorption values (Hounsfield number) were compared statistically for analyzing the differential diagnosis of these low-density lesions by calculating the P-values. All of these lesions were verified by surgical explorations. (author)

Costs Associated with Surgically Treated Cases of Abdominal Cystic Echinococcosis: A Single Center's Experience from 2008 to 2014, Pavia, Italy

OpenAIRE

Narra, Roberta; Maestri, Marcello; Budke, Christine M.; Tamarozzi, Francesca; Mariconti, Mara; Nicoletti, Giovanni J.; Rinaldi, Francesca; Brunetti, Enrico

2016-01-01

Cystic echinococcosis (CE) is a globally distributed zoonosis caused by the Echinococcus granulosus sensu lato species complex. Four approaches are available for treatment of abdominal CE: surgery, percutaneous aspiration, chemotherapy with albendazole, and watch-and-wait. Allocation of patients to these different treatment options mainly depends on the stage of the cystic lesion. However, as available guidelines are not widely followed, surgery is often applied even without the correct indic...

β-Cell Replacement in Mice Using Human Type 1 Diabetes Nuclear Transfer Embryonic Stem Cells.

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Sui, Lina; Danzl, Nichole; Campbell, Sean R; Viola, Ryan; Williams, Damian; Xing, Yuan; Wang, Yong; Phillips, Neil; Poffenberger, Greg; Johannesson, Bjarki; Oberholzer, Jose; Powers, Alvin C; Leibel, Rudolph L; Chen, Xiaojuan; Sykes, Megan; Egli, Dieter

2018-01-01

β-Cells derived from stem cells hold great promise for cell replacement therapy for diabetes. Here we examine the ability of nuclear transfer embryonic stem cells (NT-ESs) derived from a patient with type 1 diabetes to differentiate into β-cells and provide a source of autologous islets for cell replacement. NT-ESs differentiate in vitro with an average efficiency of 55% into C-peptide-positive cells, expressing markers of mature β-cells, including MAFA and NKX6.1. Upon transplantation in immunodeficient mice, grafted cells form vascularized islet-like structures containing MAFA/C-peptide-positive cells. These β-cells adapt insulin secretion to ambient metabolite status and show normal insulin processing. Importantly, NT-ES-β-cells maintain normal blood glucose levels after ablation of the mouse endogenous β-cells. Cystic structures, but no teratomas, were observed in NT-ES-β-cell grafts. Isogenic induced pluripotent stem cell lines showed greater variability in β-cell differentiation. Even though different methods of somatic cell reprogramming result in stem cell lines that are molecularly indistinguishable, full differentiation competence is more common in ES cell lines than in induced pluripotent stem cell lines. These results demonstrate the suitability of NT-ES-β-cells for cell replacement for type 1 diabetes and provide proof of principle for therapeutic cloning combined with cell therapy. © 2017 by the American Diabetes Association.

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

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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;…

Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

DEFF Research Database (Denmark)

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

2008-01-01

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

Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

DEFF Research Database (Denmark)

Johansen, Helle Krogh; Gøtzsche, Peter C

2015-01-01

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

Bacteriophage-derived enzyme that depolymerizes the alginic acid capsule associated with cystic fibrosis isolates of Pseudomonas aeruginosa.

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Glonti, T; Chanishvili, N; Taylor, P W

2010-02-01

To identify enzymes associated with bacteriophages infecting cystic fibrosis (CF) strains of Pseudomonas aeruginosa that are able to degrade extracellular alginic acids elaborated by the host bacterium. Plaques produced by 21 Ps. aeruginosa-specific phages were screened for the presence of haloes, an indicator of capsule hydrolytic activity. Four phages produced haloed plaques, and one (PT-6) was investigated further. PT-6 was shown by electron microscopy to belong to Podoviridae family C1, to reduce the viscosity of four alginate preparations using a rolling ball viscometer and to release uronic acid-containing fragments from the polymers, as judged by spectrophotometry and thin layer chromatography. The alginase was partially purified by gel filtration chromatography and shown to be a 37 kDa polypeptide. Infection of CF strains of Ps. aeruginosa by phage PT-6 involves hydrolysis of the exopolysaccharide secreted by the host. The alginase produced by PT-6 has the potential to increase the well-being of CF suffers by improving the surface properties of sputum, accelerating phagocytic uptake of bacteria and perturbing bacterial growth in biofilms.

Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis

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Ozlem Atan Sahin

2017-03-01

Full Text Available Background: There have been studies focused on FokI, BsmI, ApaI and TaqI polymorphisms of the vitamin D receptor (VDR gene and susceptibility to type 1 diabetes mellitus with controversial results.Methods: This present study is a meta-analysis investigating the association between FokI, ApaI, TaqI and BsmI polymorphisms of VDR gene and type 1 DM in children. A literature search was performed using Medline, EMBASE, Cochrane and PubMed. Any study was considered eligible for inclusion if at least one of FokI, ApaI, TaqI and BsmI polymorphisms was determined, and outcome was type 1 DM at pediatric age.Results: A total of 9 studies comprising 1053 patients and 1017 controls met the study inclusion criteria. The pooled odds ratios (ORs of the FokI, ApaI, TaqI and BsmI polymorphisms were combined and calculated. Forest plots and funnel plots of the OR value distributions were drawn. Our meta-analysis has demonstrated statistically significant associations between DM1 and VDR genotypes, BsmIBB (P < 0.05, BsmIBb, (P < 0.05, BsmIbb (P < 0.05, TaqITT (P < 0.05 and TaqItt (P < 0.05 in children.Conclusion: The results indicated that BsmIBB, BsmIBb and TaqItt polymorphisms were associated with an increased risk of type 1 DM, whereas BsmIbb and TaqITT had protective effect for type 1 DM in children.