Background.-Migrainous vertigo(MV)is increasingly recognized as a common cause of episodic vertigo.MV displays several clinical similarities with familial hemiplegic migraine(FHM)and episodic ataxia type 2(EA-2),which...
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Background.-Migrainous vertigo(MV)is increasingly recognized as a common cause of episodic vertigo.MV displays several clinical similarities with familial hemiplegic migraine(FHM)and episodic ataxia type 2(EA-2),which have been linked to mutations in 3 genes,CACNA1A,encoding a neuronal calcium channel αsubunit,ATP1A2,encoding a catalytic subunit of a Na +/K+-ATPase,and most recently the voltage-gated sodium channel SCN1A.The present study explored the hypothesis that mutations in CACNA1A,ATP1A2,SCN1A,and the calcium channel β4 subunit CACNB4 confer susceptibility to MV.Methods.-Mutation analysis of the coding exons and exon/intron junctions of CACNA1A,ATP1A2,SCN1A,and CACNB4 was performed in 14 unrelated MV patients by conformation sensitive gel electrophoresis and automated sequence analysis.Results.-Analysis of the 4 candidate genes in the 14 MV patients resulted in the identification of a total of 26 sequence variants.The silent substitution D29D in CACNB4 was observed in 2 MV patients and was not present in 46 ethnically matched control DNA samples.The remaining variants were also observed in control DNA samples and the allele frequencies of variants that resulted in amino acid substitutions were not significantly different between patients and controls.Conclusions.-Based on this group of patients there is no evidence that the genes causing FHM and EA-2 represent major susceptibility loci for MV.
AIM: To investigate interleukin-6 (IL-6), mast cells, enterochromaffin cells, 5-hydroxytryptamine, and substance P in the gastrointestinal mucosa of children with abdominal pain. METHODS: Formalin-fixed paraffin-embed...
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AIM: To investigate interleukin-6 (IL-6), mast cells, enterochromaffin cells, 5-hydroxytryptamine, and substance P in the gastrointestinal mucosa of children with abdominal pain. METHODS: Formalin-fixed paraffin-embedded gas-trointestinal biopsy blocks from patients (n = 48) with non-inflammatory bowel disease (irritable bowel syndrome and functional abdominal pain) and inflammatory bowel disease were sectioned and stained for IL-6, mast cells, enterochromaffin cells, 5-hydroxytryptamine, and substance P. All children had chronic abdominal pain as part of their presenting symptoms. Biopsy phenotype was confirmed by a pathologist, blinded to patient information. Descriptive statistics, chi-square, and independent sample t tests were used to compare differences between the inflammatory and non-inflammatory groups. RESULTS: The cohort (n = 48), mean age 11.9 years (SD = 2.9), 54.2% females, 90% Caucasian, was comprised of a non-inflammatory (n = 26) and an inflammatory (n = 22) phenotype. There was a significant negative correlation between substance P expression and mast cell count (P = 0.05, r = -0.373). Substance P was found to be expressed more often in female patient biopsies and more intensely in the upper gastrointestinal mucosa as compared to the lower mucosa. There were significantly increased gastrointestinal mucosal immunoreactivity to IL-6 (P = 0.004) in the inflammatory phenotype compared to non-inflammatory. Additionally, we found significantly increased mast cells (P = 0.049) in the mucosa of the non-inflammatory phenotype compared to the inflammatory group. This difference was particularly noted in the lower colon biopsies. CONCLUSION: The findings of this study yield preliminary evidence in identifying biomarkers of undiagnosed abdominal pain in children and may suggest candidate genes for future evaluation.
Background: Terahertz radiation lies between the infrared and microwave regions of the electromagnetic spectrum and can be used to excite large amplitude vibrational modes of molecules and probe the weak interactions ...
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Background: Terahertz radiation lies between the infrared and microwave regions of the electromagnetic spectrum and can be used to excite large amplitude vibrational modes of molecules and probe the weak interactions between them. Terahertz pulsed imaging (TPI) is a noninvasive imaging technique that utilises this radiaton. Objectives: To determine whether TPI could differentiate between basal cell carcinoma (BCC) and normal tissue and to test whether it can help facilitate delineation of tumour margins prior to surgery. Methods: A portable TPI system was used in the clinic to image 18 BCCs ex vivo and five in vivo. Results: The diseased tissue showed a change in terahertz properties compared with normal tissue, manifested through a broadening of the reflected terahertz pulse. Regions of disease identified in the terahertz image correlated well with histology. Conclusions: This study has confirmed the potential of TPI to identify the extent of BCC in vivo and to delineate tumour margins. Further clinical study of TPI as a surgical tool is now required.
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