Dyskeratosis congenita: clinical report and review of the literature

Abstract:  Dyskeratosis congenita (DKC) is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nails dystrophy and skin pigmentation. Oral and dental abnormalities may also be present. Most cases are X-linked autosomal dominant, but recessive forms have also been reported. This study describes herein a case in which the classic triad of signs was present, along with the development of leukoplakia in the buccal mucosa. Our patient, a 25-year-old man, presented with several characteristic systemic features of this condition, together with the following oral features: hypodontia, delayed dental eruption, short blunt roots, extensive caries, gingival inflammation and bleeding, loss of alveolar bone and buccal mucosa with leukoplakia and irregular ulcers. The patient was given full preventive care. The primary teeth were extracted under local anaesthesia. After establishing optimal oral health, oral hygiene instructions were given to the patient and he was rehabilitated with fixed and removable partial denture. Prosthetic treatments were carried out after establishing optimal oral health. This treatment option appears beneficial in this patient, resulting in rehabilitation of occlusion and less mechanical irritation to the oral mucosa.     

Combination reperfusion therapy with eptifibatide and reduced-dose tenecteplase for ST-elevation myocardial infarction: results of the integrilin and tenecteplase in acute myocardial infarction (INTEGRITI) Phase II Angiographic Trial

OBJECTIVES: The goal of this study was to evaluate combinations of eptifibatide with reduced-dose tenecteplase (TNK) in ST-elevation myocardial infarction (STEMI). BACKGROUND: Glycoprotein IIb/IIIa inhibitors enhance thrombolysis. The role of combination therapy in clinical practice remains to be established. METHODS: Patients (n = 438) with STEMI <6 h were enrolled. In dose-finding, 189 patients were randomized to different combinations of double-bolus eptifibatide and reduced-dose TNK. In dose-confirmation, 249 patients were randomized 1:1 to eptifibatide 180 microg/kg bolus, 2 microg/kg/min infusion, and 180 microg/kg bolus 10 min later (180/2/180) plus half-dose TNK (0.27 mg/kg) or standard-dose (0.53 mg/kg) TNK monotherapy. All patients received aspirin and unfractionated heparin (60 U/kg bolus; infusion 7 U/kg/h [combination], 12 U/kg/h [monotherapy]). The primary end point was Thrombolysis In Myocardial Infarction (TIMI) grade 3 epicardial flow at 60 min. RESULTS: In dose-finding, TIMI grade 3 flow rates were similar across groups (64% to 68%). Arterial patency was highest for eptifibatide 180/2/180 plus half-dose TNK (96%, p = 0.02 vs. eptifibatide 180/2/90 plus half-dose TNK). In dose-confirmation, this combination, compared with TNK monotherapy, tended to achieve more TIMI 3 flow (59% vs. 49%, p = 0.15), arterial patency (85% vs. 77%, p = 0.17), and ST-segment resolution (median 71% vs. 61%, p = 0.08) but was associated with more major hemorrhage (7.6% vs. 2.5%, p = 0.14) and transfusions (13.4% vs. 4.2%, p = 0.02). Intracranial hemorrhage occurred in 1.0%, 0.6%, and 1.7% of patients treated with any combination, eptifibatide 180/2/180 and half-dose TNK, and TNK monotherapy, respectively. CONCLUSIONS: Double-bolus eptifibatide (180/2/180) plus half-dose TNK tended to improve angiographic flow and ST-segment resolution compared with TNK monotherapy but was associated with more transfusions and non-cerebral bleeding. Further study is needed before this combination can be recommended for general use.     

Risk factors for nosocomial imipenem-resistant Acinetobacter baumannii infections.

OBJECTIVES: To identify the risk factors for nosocomial imipenem-resistant Acinetobacter baumannii (IRAB) infections. METHODS: A prospective case-control study, set in an 1100-bed referral and tertiary-care hospital, of all patients who had nosocomial A. baumannii infections between January 1 and December 31, 2004. Only the first isolation of A. baumannii was considered. RESULTS: IRAB was isolated from 66 (53.7%) patients and imipenem-sensitive Acinetobacter baumannii (ISAB) was isolated from 57 (46.3%) patients during the study period. The mean duration of hospital stay until A. baumannii isolation was 20.8+/-13.6 days in IRAB infections, whereas it was 15.4+/-9.4 days in ISAB infections. Of the patients, 65.2% with IRAB infections and 40.4% with ISAB infections were followed at the intensive care unit (ICU). Previous carbapenem use was present in 43.9% of the patients with IRAB and 12.3% of the patients with ISAB infection. In univariate analysis female sex, longer duration of hospital stay until infection, ICU stay, emergent surgical operation, total parenteral nutrition, having a central venous catheter, endotracheal tube, urinary catheter or nasogastric tube, previous antibiotic use, and previous administration of carbapenems were significant risk factors for IRAB infections (p<0.05). In multivariate analysis, longer duration of hospital stay until A. baumannii isolation (odds ratio (OR) 1.043; 95% confidence interval (CI) 1.003-1.084; p=0.032), previous antibiotic use (OR 5.051; 95% CI 1.004-25.396; p=0.049), and ICU stay (OR 3.100; 95% CI 1.398-6.873; p=0.005) were independently associated with imipenem resistance. CONCLUSIONS: Our results suggest that the nosocomial occurrence of IRAB is strongly related to an ICU stay and duration of hospital stay, and that IRAB occurrence may be favored by the selection pressure of previously used antibiotics.     

To what extent and why are COPD and Willis-Ekbom disease associated?

Aim

Willis-Ekbom disease (RLS/WED) is common in chronic obstructive pulmonary disease (COPD). Patients with RLS/WED have poorer quality of sleep and more fatigue and depressive symptoms. The prevalence of RLS/WED in patients with COPD has been reported to vary between 29.1 and 36.8 %. However, during exacerbation, the prevalence can increase up to 54 %. These rates are higher than those seen in general population. We have not enough knowledge regarding the association between RLS and COPD. In this study, we aimed to determine the frequency of RLS in patients with stable COPD without comorbid conditions. In addition, we also aimed to determine possible related causative factors.

Method

We included 80 COPD patients without comorbid conditions who presented to our outpatient clinic between April 2013 and September 2013 for RLS/WED evaluation. Three cases that have polyneuropathy and one case that refused undergoing electromyography (EMG) examination were excluded from the study. Demographic data, P-A chest X-rays, pulmonary function tests (PFT), biochemical parameters (including hemogram), and dyspnea scales were evaluated for each patient. In addition, the RLS/WED rating scale and Epworth Sleep Scale (ESS) were applied. Further, each patient diagnosed with RLS/WED underwent a detailed neurological examination (performed by a neurologist) and an EMG examination to rule out polyneuropathy.

Results

Out of 76 COPD cases included in our study, 26.3 % (n?=?20) were diagnosed with RLS/WED (mean age 60.4?±?7.5 years, 20 males). The cases with RLS/WED had significantly lower body mass index (BMI) than cases without RLS/WED (p?=?0.009). There were no significant differences between cases with and without RLS/WED with respect to PFT, dyspnea scales, and arterial blood gas values. However, ESS was significantly different (p?=?0.016). There were no significant differences in RLS/WED scores and mean hs-CRP levels between COPD stages (p?=?0.424; p?=?0.518, respectively), while ESS was significantly different (p?=?0.016). ESS was significantly higher in stage B COPD than in stages A and D (p?=?0.005, p?=?0.008, respectively). Based on our model, we found that exacerbations and iron binding capacity (UIBC) were predictive factors for RLS/WED (p?<?0.100)

Conclusion

RLS/WED is a common disease in cases with stable COPD. Despite our hypothesis suggesting that the prevalence of RLS/WED in COPD is related with systemic inflammation, we did not find a significant association between hs-CRP and COPD cases with RLS/WED. However, we did find that UIBC is a predictive factor for the development of RLS/WED. Nonetheless, further studies are needed to understand the relationships between UIBC, low BMI, and the development of RLS/WED in COPD.

     

Pentraxin 3 concentrations of the mothers with preterm premature rupture of membranes and their neonates,and early neonatal outcome

Background: Pentraxin 3 (PTX3) is an acute phase reactant which has been used to detect intra-amniotic infections (IAI) in pregnancy, but the prognostic value of PTX3 concentrations on neonates has not been studied. We aimed to investigate the relationship between maternal PTX3–neonatal PTX3 concentrations and early neonatal outcome.

Methods: The mothers diagnosed with preterm prelabor rupture of membranes (PPROM) (n?=?28) and their preterm infants (n?=?28) were included in the study. PTX3 concentrations were studied in plasma in the maternal peripheral blood and umbilical/peripheral vein in the neonates. The relationship between the mPTX3–nPTX3 concentrations and neonatal outcome were investigated using non-parametric tests and binary logistic regression analysis.

Results: The mean mPTX3 concentration was 10.35?±?7.82?μg/L. Ten (35.7%) of all mothers were within the normal range and 18 (64.3%) in high percentile (≥97.5 percentile). There was no relation between mPTX3 concentrations and clinical or histologic chorioamnionitis, latency of PPROM, and early neonatal outcome. Mean nPTX3 concentrations was 9.18?±?7.83?μg/L and high nPTX3 concentrations were detected in five (17.8%) neonates. nPTX3 concentrations were inversely correlated with gestational age and correlated with rate of intraventricular hemorrhage (IVH) and mortality. Neonates with high nPTX3 concentrations also have lowered APGAR scores, increased rate of respiratory distress syndrome, clinical sepsis, IVH, necrotizing enterocolitis and prolonged NICU stay.

Conclusion: High PTX3 concentrations of the newborns are associated with some worsened early neonatal outcome including lower gestational age at delivery, increased rate of IVH and mortality. Maternal PTX3 concentrations are not an adequate marker in defining clinical or histologic chorioamnionitis and early neonatal outcome.     

Turkey Handwashing Survey: suggestion for taking the ecological model into better consideration

Objectives

This study is aimed to find out the handwashing habits and their relations to the socio-economic variables.

Methods

The sampling is determined regarding the address-based population registration system of the country. The multi-staged stratified cluster sampling method was used. It is conducted by a face to face questionnaire with 6854 persons. 22 questions are asked whether they are washing their hands or not related to different situations, the results are graded and the “Handwashing Habits Score” (HHS) is obtained. The reasons for not handwashing were evaluated by categorizing as individual, environmental and combined reasons.

Results

The HHS is increasing in the older age groups (β = 0.148, p < 0.001), females (β = 0.306, p < 0.001), citizens of urban settlement (β = 0.061, p < 0.001), higher education levels (β = 0.191, p < 0.001). The reasons for not handwashing were found as 53.3 % individual, 39.2 % environmental, 7.5 % combined. The frequency of mentioning not washing hands because of the environmental reasons is getting higher in the older age groups, in the urban side, and in the higher education level (p < 0.001).

Conclusions

The handwashing habits are shaped by the determinant networks which form a complex structure by intertwining individual, socio-economic and environmental factors in different sub-groups with various weights. This result might contribute to the efforts of conceptualizing the health behaviors with ecological model.     

Does Familial Mediterranean Fever Provoke Atherosclerosis in Children? Evaluation of Arterial Stiffness and Serum Endocan Levels

Clinical Rheumatology - This study aimed to evaluate the risk for atherosclerosis by using echocardiographic arterial stiffness (AS) parameters and serum endocan levels, as a biomarker of...     

Tear in mitral anterior leaflet as a complication of Manouguian's procedure in a woman with an aortic valve prosthesis

Complications of valve replacement are diverse. In addition to morbidity due to the prosthetic valve itself (e.g. endocarditis, thrombosis), complications due to operative technique may occur in complex cases, as in aortic valve replacement with annular enlargement. Postoperative echocardiography is a simple, non-invasive method to evaluate patients with prosthetic valves. Detailed knowledge of the surgical technique employed and of probable complications is necessary to make an accurate diagnosis. The case is reported of a woman with aortic valve replacement and annular enlargement who had mitral regurgitation due to a tear in the anterior mitral leaflet as a complication of Manouguian's annulus enlargement.