@article{DuhrKennKickuthetal.2011,
  author    = {Duhr, Carolin D. and Kenn, Werner and Kickuth, Ralph and Kerscher, Alexander G. and Germer, Christoph-Thomas and Hahn, Dietbert and Pelz, Joerg O. W.},
  title     = {Optimizing of preoperative computed tomography for diagnosis in patients with peritoneal carcinomatosis},
  series = {World Journal of Surgical Oncology},
  volume    = {9},
  journal   = {World Journal of Surgical Oncology},
  number    = {171},
  doi       = {10.1186/1477-7819-9-171},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-138024},
  year      = {2011},
  abstract  = {Background and Objective This study evaluates whether Computer Tomography is an effective procedure for preoperative staging of patients with Peritoneal Carcinomatosis. Method A sample of 37 patients was analyzed with contrast enhanced abdominal Computer Tomography, followed by surgical staging. All Computer Tomography scans were evaluated 3 times by 2 radiologists with one radiologist reviewing 2 times. The efficacy of Computer Tomography was evaluated using the Spearman correlation coefficient. Correlations were analyzed by abdominopelvic region to assess results of the Peritoneal Carcinomatosis Index (PCI) aggregating the 13 regions. Surgical findings were compared to radiological findings. Results Results indicate high correlations between the surgical and radiological Peritoneal Carcinomatosis Indices. Analyses of the intra-class correlation between the first and second reading of one radiologist suggest high intra-observer reliability. Correlations by abdominopelvic region show higher values in the upper and middle regions and relatively lower values in the lower regions and the small bowel (correlation coefficients range between 0.418 and 0.726, p < 0.010; sensitivities range between 50\% and 96\%; and specificities range between 62\% and 100\%). Conclusion Computer Tomography represents an effective procedure in the preoperative staging of patients with PC. However, results by abdominopelvic region show lower correlation, therefore suggest lower efficacy. These results are supported by analyses of sensitivity and accuracy by lesion size. This suggests that Computer Tomography is an effective procedure for pre-operative staging but less for determining a tumor's accurate extent.},
  language  = {en}
}
@article{DasenbrookLuDonnolaetal.2013,
  author    = {Dasenbrook, Elliot C. and Lu, Luan and Donnola, Shannon and Weaver, David E. and Gulani, Viskas and Jakob, Peter M. and Konstan, Michael W. and Flask, Chris A.},
  title     = {Normalized T1 Magnetic Resonance Imaging for Assessment of Regional Lung Function in Adult Cystic Fibrosis Patients - A Cross-Sectional Study},
  series = {PLOS ONE},
  volume    = {8},
  journal   = {PLOS ONE},
  number    = {9},
  issn      = {1932-6203},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-128346},
  pages     = {e73286},
  year      = {2013},
  abstract  = {Background: Cystic fibrosis (CF) patients would benefit from a safe and effective tool to detect early-stage, regional lung disease to allow for early intervention. Magnetic Resonance Imaging (MRI) is a safe, non-invasive procedure capable of providing quantitative assessments of disease without ionizing radiation. We developed a rapid normalized T1 MRI technique to detect regional lung disease in early-stage CF patients. Materials and Methods: Conventional multislice, pulmonary T1 relaxation time maps were obtained for 10 adult CF patients with normal spirometry and 5 healthy non-CF control subjects using a rapid Look-Locker MRI acquisition (5 seconds/imaging slice). Each lung absolute T1 map was separated into six regions of interest (ROI) by manually selecting upper, central, and lower lung regions in the left and right lungs. In order to reduce the effects of subject-to-subject variation, normalized T1 maps were calculated by dividing each pixel in the absolute T1 maps by the mean T1 time in the central lung region. The primary outcome was the differences in mean normalized T1 values in the upper lung regions between CF patients with normal spirometry and healthy volunteers. Results: Normalized T1 (nT1) maps showed visibly reduced subject-to-subject variation in comparison to conventional absolute T1 maps for healthy volunteers. An ROI analysis showed that the variation in the nT1 values in all regions was <= 2\% of the mean. The primary outcome, the mean (SD) of the normalized T1 values in the upper right lung regions, was significantly lower in the CF subjects [.914 (.037)] compared to the upper right lung regions of the healthy subjects [.983 (.003)] [difference of .069 (95\% confidence interval .032-.105); p=.001). Similar results were seen in the upper left lung region. Conclusion: Rapid normalized T1 MRI relaxometry obtained in 5 seconds/imaging slice may be used to detect regional early-stage lung disease in CF patients.},
  language  = {en}
}
@article{SchreiberSchneideratKressetal.2013,
  author    = {Schreiber, Olivia and Schneiderat, Peter and Kress, Wolfram and Rautenstrauss, Bernd and Senderek, Jan and Schoser, Bendikt and Walter, Maggie C.},
  title     = {Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A-evidence for "double trouble" overlapping syndromes},
  series = {BMC Medical Genetics},
  volume    = {14},
  journal   = {BMC Medical Genetics},
  number    = {92},
  issn      = {1471-2350},
  doi       = {10.1186/1471-2350-14-92},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-121963},
  year      = {2013},
  abstract  = {Background: We report on a patient with genetically confirmed overlapping diagnoses of CMT1A and FSHD. This case adds to the increasing number of unique patients presenting with atypical phenotypes, particularly in FSHD. Even if a mutation in one disease gene has been found, further genetic testing might be warranted in cases with unusual clinical presentation. Case presentation: The reported 53 years old male patient suffered from walking difficulties and foot deformities first noticed at age 20. Later on, he developed scapuloperoneal and truncal muscle weakness, along with atrophy of the intrinsic hand and foot muscles, pes cavus, claw toes and a distal symmetric hypoesthesia. Motor nerve conduction velocities were reduced to 20 m/s in the upper extremities, and not educible in the lower extremities, sensory nerve conduction velocities were not attainable. Electromyography showed both, myopathic and neurogenic changes. A muscle biopsy taken from the tibialis anterior muscle showed a mild myopathy with some neurogenic findings and hypertrophic type 1 fibers. Whole-body muscle MRI revealed severe changes in the lower leg muscles, tibialis anterior and gastrocnemius muscles were highly replaced by fatty tissue. Additionally, fatty degeneration of shoulder girdle and straight back muscles, and atrophy of dorsal upper leg muscles were seen. Taken together, the presenting features suggested both, a neuropathy and a myopathy. Patient's family history suggested an autosomal dominant inheritance. Molecular testing revealed both, a hereditary motor and sensory neuropathy type 1A (HMSN1A, also called Charcot-Marie-Tooth neuropathy 1A, CMT1A) due to a PMP22 gene duplication and facioscapulohumeral muscular dystrophy (FSHD) due to a partial deletion of the D4Z4 locus (19 kb). Conclusion: Molecular testing in hereditary neuromuscular disorders has led to the identification of an increasing number of atypical phenotypes. Nevertheless, finding the right diagnosis is crucial for the patient in order to obtain adequate medical care and appropriate genetic counseling, especially in the background of arising curative therapies.},
  language  = {en}
}
@article{VerruaFerranteFilopantietal.2014,
  author    = {Verrua, Elisa and Ferrante, Emanuele and Filopanti, Marcello and Malchiodi, Elena and Sala, Elisa and Giavoli, Claudia and Arosio, Maura and Lania, Andrea Gerardo and Ronchi, Christina Lucia and Mantovani, Giovanna and Beck-Peccoz, Paolo and Spada, Anna},
  title     = {Reevaluation of Acromegalic Patients in Long-Term Remission according to Newly Proposed Consensus Criteria for Control of Disease},
  series = {International Journal of Endocrinology},
  journal   = {International Journal of Endocrinology},
  issn      = {1687-8345},
  doi       = {10.1155/2014/581594},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-117790},
  pages     = {581594},
  year      = {2014},
  abstract  = {Acromegaly guidelines updated in 2010 revisited criteria of disease control: if applied, it is likely that a percentage of patients previously considered as cured might present postglucose GH nadir levels not adequately suppressed, with potential implications on management. This study explored GH secretion, as well as hormonal, clinical, neuroradiological, metabolic, and comorbid profile in a cohort of 40 acromegalic patients considered cured on the basis of the previous guidelines after a mean follow-up period of 17.2 years from remission, in order to assess the impact of the current criteria. At the last follow-up visit, in the presence of normal IGF-I concentrations, postglucose GH nadir was over 0.4 mu g/L in 11 patients (Group A) and below 0.4 mu g/L in 29 patients (Group B); moreover, Group A showed higher basal GH levels than Group B, whereas a significant decline of both GH and postglucose GH nadir levels during the follow-up was observed in Group B only. No differences in other evaluated parameters were found. These results seem to suggest that acromegalic patients considered cured on the basis of previous guidelines do not need a more intensive monitoring than patients who met the current criteria of disease control, supporting instead that the cut-off of 0.4 mcg/L might be too low for the currently used GH assay.},
  language  = {en}
}