A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.

BACKGROUND: Up to date, three thyroid-stimulating hormone receptor (TSHR) germline variants have been reported for which no functional consequences have been detected by in vitro characterizations. However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. We describe a family with a new TSHR germline mutation that is associated with euthyroidism in 13 family members and hyperthyroidism in 1 family member. METHODS: Mutation analysis of the TSHR gene was performed by denaturing gradient gel electrophoresis. TSHR constructs were characterized by determination of cell surface expression, 3'-5'-cyclic adenosine monophosphate (cAMP) accumulation, and constitutive cAMP activity. RESULTS: A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis. The mutation was also detected in 13 family members, all of whom were euthyroid. Interestingly, an additional constitutively active somatic mutation (S281N) was identified on the second parental TSHR allele of the hyperthyroid index patient. Linear regression analysis showed a lack of constitutive activity for N372T. Moreover, coexpression studies of N372T with S281N did not reveal any evidence for a functional influence of N372T on the constitutively active mutation (CAM). CONCLUSIONS: N372T is unlikely to cause altered thyroid function. This is consistent with the finding that only the index patient with the additional somatic mutation S281N was hyperthyroid.     

Mesangial proliferative glomerulonephritis in familial Mediterranean fever patient with E148Q mutation: the first case report

Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease characterized by recurrent attacks of fever, usually accompanied by sterile polyserositis. Although amyloidosis is the most common renal involvement, non-amyloid renal lesions, such as glomerulonephritis, have been described in patients with FMF. In this report, we present the first case of an FMF patient with heterozygous mutation of E148Q, mesangial proliferative glomerulonephritis, and no amyloidosis. While the association of mutation E148Q with renal involvement is still obscure, colchicine treatment is useful in mesangial proliferative glomerulonephritis with FMF.     

Effect of Dexmedetomidine on Ischemia-Reperfusion Injury in Rat Kidney: A Histopathologic Study

Ischemia-reperfusion (I-R) injury remains the leading cause of acute renal failure. The purpose of this experimental study was to determine the role of dexmedetomidine on histologic alterations induced by renal I-R in rats. In the present study, thirty male Sprague-Dawley rats weighing 200–220 g were randomly assigned into three groups: the sham-control group (group 1, n?=?10), the R/untreated group (group 2, n?=?10), and the I-R/dexmedetomidine-treated group (group 3, n?=?10). For group one, we performed a sham operation. The abdomen was dissected, the right kidney was harvested, and then the left renal pedicle exposed. Renal clamping was not applied. For group 2, rats underwent left renal ischemia for 60 minutes followed by reperfusion for 45 minutes. For group 3, the same surgical procedure as in group 2 was performed, and dexmedetomidine (100 μg/kg, intraperitoneal) was administrated at the starting time of reperfusion. The rats were sacrificed after reperfusion, and the kidney tissue was harvested. The histopathological score in the kidney of the I-R/dexmedetomidine-treated group rats was significantly lower than that of I-R/untreated group rats. This score in I-R/untreated group rats was higher than the other two groups, which was statistically significant. In the I-R/untreated group rats, kidneys of untreated ischemia rats showed tubular cell swelling, cellular vacuolization, pyknotic nuclei, medullary congestion, and moderate to severe necrosis. Treatment with dexmedetomidine shows normal glomeruli and slight edema of the tubular cells. These findings provide the first evidence that dexmedetomidine can reduce the renal injury caused by I-R of the kidney, and may be useful in enhancing the tolerance of the kidney against renal injury.     

Influence of smoking on interleukin-1beta level, oxidant status and antioxidant status in gingival crevicular fluid from chronic periodontitis patients before and after periodontal treatment

Toker H, Akp?nar A, Ayd?n H, Poyraz O. Influence of smoking on interleukin‐1beta level, oxidant status and antioxidant status in gingival crevicular fluid from chronic periodontitis patients before and after periodontal treatment. J Periodont Res 2012; 47: 572–577. © 2012 John Wiley & Sons A/S Background and Objective: The aim of this study was to evaluate the impact of smoking on the relationship between interleukin‐1 (IL‐1β) and oxidation in patients with periodontitis and response to nonsurgical periodontal therapy. Material and Methods: Data were obtained from 30 patients with generalized chronic periodontitis (15 smokers and 15 nonsmokers) and from 10 periodontally healthy controls. IL‐1β level, total oxidant status (TOS) and total antioxidant status (TAS) were recorded in gingival crevicular fluid. Probing depth, clinical attachment level, gingival and plaque indices and bleeding on probing were also measured. The gingival crevicular fluid and clinical parameters were recorded at baseline and 6 wk after periodontal treatment. Results: The study showed statistically significant improvement of clinical parameters in both smokers and nonsmokers after periodontal treatment. Moreover, the baseline IL‐1β levels were significantly higher in smokers compared with nonsmokers (p < 0.05). After periodontal treatment, the IL‐1β levels were significantly reduced in both smokers and nonsmokers (p < 0.05). There were no significant differences in TOS and TAS between periodontitis patients and healthy controls at baseline and 6 wk after periodontal treatment. The level of IL‐1β in gingival crevicular fluid was positively correlated with TOS in both smokers and nonsmokers. Conclusions: Periodontal treatment improved the clinical parameters in both smokers and nonsmokers. The results confirm that periodontal therapy has an effect on IL‐1β levels in gingival crevicular fluid, but not on TOS and TAS.     

Vancomycin-resistant enterococci colonization in a neonatal intensive care unit: who will be infected?

Objective: To determine the incidence of vancomycin-resistant enterococcus (VRE) colonization in our neonatal intensive care unit (NICU) over five-year period, rate of progression to VRE infection and associated risk factors.

Methods: A retrospective analysis of a prospective surveillance for VRE colonization and health care-associated infections was made. Contact precautions were taken against colonization, although the application varied over the years due to repairs in the unit.

Results: VRE rectal colonization was detected in 200/1671 neonates (12%) admitted to NICU. It showed great interannual variability from 1.9% to 30.3%. Sytemic VRE infection developed in 6/200 VRE-colonized patients (3%) within a median of 9 days (range: 3–58 days). The risk factors for VRE infection development identified in the univariate analysis were long hospital stay (≥30 days), necrotizing enterocolitis, surgical procedure, extraventricular drainage, receipt of amphotericin B and receipt of glycopeptides after detection of VRE colonization. Crude in-hospital mortality was higher in neonates who developed a systemic VRE infection (p?<?0.001).

Conclusion: Maintaining physical conditions in the unit favorable for infection control and rational use of antibiotics are essential in the control of VRE colonization and resultant infections. Special attention should be directed to VRE-colonized babies carrying the risk factors.     

Levels of gingival tissue platelet activating factor after conventional and regenerative periodontal surgery

The hypothesis, a relationship between gingival tissue platelet activating factor (PAF) levels and healing after periodontal surgery, was tested by measuring PAF levels in gingival tissues collected from sites that had undergone flap surgery and guided tissue regeneration (GTR) or flap surgery alone. Using a split-mouth design, 20 intrabony defects were randomly assigned to treatment with flap surgery and GTR (group 1) or with flap surgery alone (group 2). Gingival tissue samples were obtained at surgery (baseline) and at 6-month follow-up evaluation visit. One half of each sample was used for analysis of PAF levels by high-performance liquid chromatography, and the other half of the sample was used for histomorphometric analysis that included measurements of number and diameter of blood vessels. PAF levels and diameter of blood vessels were significantly decreased (p < 0.01), and the number of blood vessels was significantly increased (p < 0.05) in both groups after 6 months compared to the baseline values. Postoperative number of blood vessels were significantly higher in group 1 (p < 0.05), whereas there was no significant difference in postoperative PAF levels between the two groups (p > 0.05). Based on the reported results, it is suggested that a decrease in gingival PAF levels might be found after conventional and regenerative periodontal surgery.