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Rezaei N.,Tehran University of Medical Sciences | Rezaei N.,University of Sheffield | Sabbaghian M.,Tehran University of Medical Sciences | Liu Z.,Nanjing Medical University | Zenker M.,University Hospital of Magdeburg
European Journal of Pediatrics | Year: 2011

Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay. Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome. © 2010 Springer-Verlag. Source

Nullmeier S.,Otto Von Guericke University of Magdeburg | Panther P.,University Hospital of Magdeburg | Frotscher M.,Institute for Structural Neurobiology | Zhao S.,Institute for Structural Neurobiology | Schwegler H.,Otto Von Guericke University of Magdeburg
Neuroscience | Year: 2014

The heterozygous reeler mouse (HRM), haploinsufficient for reelin, shares several neurochemical and behavioral similarities with patients suffering from schizophrenia. It has been shown that defective reelin signaling influences the mesolimbic dopaminergic pathways in a specific manner. However, there is only little information about the impact of reelin haploinsufficiency on the monoaminergic innervation of different brain areas, known to be involved in the pathophysiology of schizophrenia. In the present study using immunocytochemical procedures, we investigated HRM and wild-type mice (WT) for differences in the densities of tyrosine hydroxylase (TH)-immunoreactive (IR) and serotonin (5-HT)-IR fibers in prefrontal cortex, ventral and dorsal hippocampal formation, amygdala and ventral and dorsal striatum. We found that HRM, compared to WT, shows a significant increase in TH-IR fiber densities in dorsal hippocampal CA1, CA3 and ventral CA1. In contrast, HRM exhibits a significant decrease of TH-IR in the shell of the nucleus accumbens (AcbShell), but no differences in the other brain areas investigated. Overall, no genotype differences were found in the 5-HT-IR fiber densities. In conclusion, these results support the view that reelin haploinsufficiency differentially influences the catecholaminergic (esp. dopaminergic) systems in brain areas associated with schizophrenia. The reelin haploinsufficient mouse may provide a useful model for studying the role of reelin in hippocampal dysfunction and its effect on the dopaminergic system as related to schizophrenia. © 2014 IBRO. Source

Kraft M.,Kantonsspital AG | Betz C.S.,Ludwig Maximilians University of Munich | Leunig A.,Ludwig Maximilians University of Munich | Arens C.,University Hospital of Magdeburg
Head and Neck | Year: 2011

Background Fluorescence endoscopy is used for the early detection and delineation of laryngeal cancer and its precursor lesions. No systematic review of these promising imaging techniques has yet been performed. Methods A systematic review of the published literature and meta-analysis of data extracted from 16 included studies were performed. A total of 1000 laryngeal lesions were examined by autofluorescence endoscopy (AFE), 318 mucosal changes by induced fluorescence endoscopy (IFE), and 679 laryngeal pathologies underwent normal white light endoscopy (WLE). Results In identifying precancerous and cancerous lesions of the larynx, sensitivity (91% vs 73%), specificity (84% vs 79%), and accuracy (88% vs 77%) of AFE were superior to WLE alone, whereas IFE showed an even higher sensitivity (95% vs 73%) at the expense of specificity (62% vs 79%). Therefore, AFE also achieved a higher specificity (84% vs 62%) and accuracy (88% vs 76%) than did IFE in detecting these kinds of lesions. However, the sensitivity (91% vs 95%) did not differ significantly between both methods. Conclusions This meta-analysis confirms that fluorescence endoscopy is highly effective in the early diagnosis of laryngeal cancer and its precursor lesions. Thus, AFE can be used immediately without drug administration or possible side effects, whereas IFE is more suited for the detection of recurrent disease following initial surgery. © 2010 Wiley Periodicals, Inc. Source

Fallahi G.H.,Tehran University of Medical Sciences | Sabbaghian M.,Tehran University of Medical Sciences | Khalili M.,Tehran University of Medical Sciences | Parvaneh N.,Tehran University of Medical Sciences | And 2 more authors.
European Journal of Pediatrics | Year: 2011

Johanson-Blizzard syndrome is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus. Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome. It should be acknowledged that the combination of exocrine pancreatic insufficiency and nasal wing hypo-aplasia is pathognomonic for this syndrome. Prompt diagnosis and exact monitoring of the patients with JBS are required to avoid further complications. © 2010 Springer-Verlag. Source

Kraft M.,Kantonsspital AG | Bruns N.,University Hospital of Magdeburg | Hugens-Penzel M.,Klinikum Kassel GmbH | Arens C.,University Hospital of Magdeburg
Head and Neck | Year: 2013

Background Endosonography has been successfully used in staging gastrointestinal cancer, but its value is as yet undetermined in laryngology. Methods This prospective study includes 84 patients undergoing microlaryngoscopy for laryngeal cancer. The results of endosonography were compared with those of CT and MRI in the 76 surgical cases. Results In the assessment of laryngal cancer, endosonography was superior to current imaging techniques, whereas CT and MRI showed similar results (accuracy of 89% vs 77% and 77%, respectively). Conclusions This study confirms that endosonography is highly effective in staging laryngeal cancer. Therefore, the latter may constitute a complementary diagnostic tool in these tumors and additionally may assist in choosing an adequate treatment. © 2012 Wiley Periodicals, Inc. Source

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