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Syndrome Group (syndrome + group)

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Medical Sciences	100%

Selected Abstracts

A Screening test for the prediction of Dravet syndrome before one year of age

EPILEPSIA, Issue 4 2008
Junri Hattori
Summary Purpose: Our aim was to develop a screening test to predict Dravet syndrome before the first birthday based on the clinical characteristics of infants and the SCN1A mutation analysis. Methods: Ninety-six patients who experienced febrile seizures before the age of one were enrolled. The patients were divided into two groups,the Dravet syndrome group (n = 46) and the non-Dravet syndrome group (n = 50). We compared the clinical characteristics before one year of age of the two groups. We analyzed all coding exons of the SCN1A gene by the direct sequencing method. Scores from 0 to 3 were assigned to each risk factor based on the odds ratio and p-value. Results: An age of onset of febrile seizure , 7 months, a total number of seizures , 5, and prolonged seizures lasting more than 10 min. were regarded as significant risk factors for Dravet syndrome. Other factors highly predictive of this syndrome were hemiconvulsions, partial seizures, myoclonic seizures, and hot water,induced seizures. A total clinical score of six or above was the cutoff value indicating a high risk of Dravet syndrome. SCN1A missense and truncated mutations were detected significantly more often in the Dravet syndrome group than in the non-Dravet syndrome group. Discussion: This simple screening test was designed to be used by general pediatricians. It could help to predict Dravet syndrome before one year of age. If the sum of the clinical risk score is , 6, then the performance of an SCN1A mutation analysis is recommended. [source]

Prevalence of erectile dysfunction in patients with metabolic syndrome

INTERNATIONAL JOURNAL OF UROLOGY, Issue 4 2006
TEVFIK DEMIR
Aim:, We wished to investigate the relationship between metabolic syndrome and erectile dysfunction (ED). Materials and methods:, A total of 268 patients were included in this study. All of the patients were asked to fill in an International Index for Erectile Function (IIEF) questionnaire. The presence of metabolic syndrome was determined when any three or more of the five risk factors were present according to the National Cholesterol Education Program (NCEP) Adult Treatment Panel (ATP)-III. The relationship between risk factor for metabolic syndrome and ED status was determined according to logistic regression analysis. Results:, Eighty-nine patients (33%) constituted the metabolic syndrome group. IIEF-EF domain scores of patients with and without metabolic syndrome were 17.7 ± 7.9 and 21.7 ± 7.5, respectively (P < 0.001). Seventy-four percent of patients with metabolic syndrome and 50% of patients without metabolic syndrome had ED (P < 0.001; odds ratio 2.9; 95% CI 1.7,5.0). Erectile function domain scores significantly decreased as the number of metabolic risk factors increased (P < 0.001). Patients with the risk factor of fasting blood glucose (FBG), waist circumference (WC), or hypertension (HT) had lower erectile function domain scores than the patients with other metabolic risk factors. Logistic regression analysis revealed that FBG and WC were the most important criteria for ED. Conclusions:, Metabolic syndrome seems to be a potential risk factor for ED. We recommend patients with metabolic syndrome should be questioned about ED, and WC measurement might take part in the evaluation of ED. [source]

Analysis of matrix metalloproteinase (MMP-8 and MMP-2) activity in gingival crevicular fluid from children with Down's syndrome

JOURNAL OF PERIODONTAL RESEARCH, Issue 2 2010
T. Yamazaki-Kubota
Yamazaki-Kubota T, Miyamoto M, Sano Y, Kusumoto M, Yonezu T, Sugita K, Okuda K, Yakushiji M, Ishihara K. Analysis of matrix metalloproteinase (MMP-8 and MMP-2) activity in gingival crevicular fluid from children with Down's syndrome. J Periodont Res 2010; doi: 10.1111/j.1600-0765.2009.01214.x. © 2009 John Wiley & Sons A/S Background and Objective:, High levels of colonization by periodontopathic bacteria and a high prevalence of chronic inflammatory periodontal disease have been reported in children with Down's syndrome. Matrix metalloproteinases (MMPs) are mediators of extracellular matrix degradation and remodelling, and are deeply involved in the course of periodontal disease. To clarify the relationship between Down's syndrome and periodontitis, we investigated levels of MMP-2 and MMP-8 in gingival crevicular fluid (GCF) and detection of periodontopathic bacteria from subgingival plaque. Material and Methods:, Samples of GCF and plaque were isolated from central incisors. Levels of MMPs were evaluated by enzyme-linked immunosorbent assay, and periodontopathic bacteria were detected by polymerase chain reaction. Results:, Levels of MMP-2 and MMP-8 in Down's syndrome patients were higher than those in healthy control subjects. In the Down's syndrome group, increases in these MMPs were observed in GCF from patients with an oral hygiene index score of < 2 and in GCF from sites that were negative for bleeding on probing. The detection rate of periodontopathic bacteria in Down's syndrome patients was higher than that in the control subjects. Matrix metalloproteinase-2 levels in sites harbouring Porphyromonas gingivalis or Aggregatibacter (Actinobacillus) actinomycetemcomitans were lower than in those without these microorganisms. Conclusion:, These results suggest an increase in MMP-2 and MMP-8 in Down's syndrome patients, regardless of whether inflammation of periodontal tissue is present or not. [source]

Pilocarpine treatment in a mixed cohort of xerostomic patients

ORAL DISEASES, Issue 1 2007
DJ Aframian
Objective:, To compare the effect of a single 5-mg dose of pilocarpine hydrochloride on the salivary flow rate in three groups of xerostomic patients. Subjects and methods:, Forty-five patients were divided into three groups according to the etiology of their xerostomia: (i) radiotherapy; (ii) Sjögren's syndrome; and (iii) sialosis and xerogenic medications. Following the oral administration of a 5-mg pilocarpine hydrochloride tablet blood pressure, heart rate, body temperature and saliva secretion rates were monitored hourly for 3 h and adverse events were reported. Results:, The most significant and persistent elevation of salivary flow rate was observed in the sialosis/drug-induced group followed by the Sjögren's syndrome group. The radiotherapy group presented a significant elevation of salivary secretion rate after 1 and 2 h, but returned to baseline at 3 h. No significant changes in vital signs were reported, except for low diastolic pressure measured at 1 h in the radiotherapy group. Several adverse events were recorded throughout the trial; however, only one patient withdrew from the study. Conclusion:, Treatment with pilocarpine hydrochloride tablets may improve saliva secretion in patients taking xerogenic medications and/or suffering from metabolic sialosis expanding the beneficial potential of this sialogogue. [source]