Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis

Adams-Oliver syndrome (AOS) is a rare disease characterized by congenital scalp defects, terminal transverse limb defects and cutis marmorata telangiectatica. A significant incidence of cardiac and vascular malformations has been reported, leading to the hypothesis of a vascular defect early involved in the pathogenesis. We report two members of the same family with previously diagnosed AOS based on clinical phenotype and later recognized to have pulmonary arterio-venous malformation (PAVM). None of the subjects fulfilled current diagnostic criteria of hereditary hemorrhagic telangiectasia, which is the most common cause of PAVM. The occurrence of PAVM in AOS lends support to the hypothesis that endothelial specific abnormalities could be a patho-physiological mechanism in its development. Therefore, the role of screening for PAVM in clinical management of subjects with AOS should deserve further studies.     

Association of endodontic infection with detection of an initial lesion to the cardiovascular system

Introduction

Dental infections might predispose toward the onset of cardiovascular disease (CVD). To date, only a few studies, yielding inconclusive findings, have investigated the potential correlation between apical periodontitis (AP) and CVD. The aim of this study (as the first part of a prospective study) was to evaluate, in the absence of CV risk factors, whether subjects with AP were more exposed to the pathogenetic indices of an atherosclerotic lesion.

Methods

Forty men between the ages of 20 and 40 years who were free from periodontal disease, CVD, and traditional CV risk factors were enrolled in the study; 20 subjects had AP, and 20 acted as controls. All subjects underwent dental examination and complete cardiac assessment: physical examination, electrocardiogram, conventional and tissue Doppler echocardiography, and measurement of endothelial flow reserve (EFR). The following laboratory parameters were tested: interleukins -1, -2, and -6 (IL-1, IL-2, IL-6), tumor necrosis factor alpha, and asymmetrical dimethylarginine (ADMA). Data were analyzed by using the 2-tailed Student's t test, Pearson t test (or Spearman t test for nonparametric variables), and multivariate linear regression analysis.

Results

Echocardiography revealed no abnormalities in any of the subjects studied. ADMA levels were inversely correlated with EFR (P < .05) and directly correlated with IL-2 (P < .001). Patients with AP presented with significantly greater blood concentrations of IL-1 (P < .05), IL-2 (P < .01), IL-6 (P < .05), and ADMA (P < .05) and a significant reduction of EFR (P < .05).

Conclusions

Increased ADMA levels and their relationship with poor EFR and increased IL-2 might suggest the existence of an early endothelial dysfunction in young adults with AP.     

Effects of Vibration Training and Detraining on Balance and Muscle Strength in Older Adults

The purpose of this study was to analyze the effects of 2 days/week versus 4 days/week of Whole Body Vibration (WBV) during eight weeks of WBV training on health-related quality of life (SF-36), balance and lower body strength, as well as short-term detraining (3 weeks) on balance and lower body strength among older adults. Thirty-four older adults were randomly assigned to a control group (Control; n = 11) or to one of the vibration training groups: WBV 2 days/week (WBV_2d; n = 11) or WBV 4 days/week (WBV_4d; n = 12). The WBV groups exercised for 8 weeks, following 3 weeks of detraining. Lower body strength increased significantly (p < 0.05) for both groups, WBV_2d and WBV_4d, after 8-week training. A significant reduction in strength was observed following 3 weeks of detraining only in WBV_2d group (p < 0.05). All variables of the SF-36 and the balance test did not change after intervention in any group. 2 days/week and 4 days/week of WBV during 8 weeks showed the same improvements on muscle strength. 3 weeks of detraining did not reverse the gains in strength made during 32 sessions of WBV.

Key points

• 2 days and 4 days per week of WBV training during 8 weeks showed the same improvements on muscle strength.
• 3 weeks of detraining did not reverse the gains in strength made during 32 sessions of WBV exercise.
• 3 weeks of detraining did reverse the gains in strength made during 16 sessions of WBV exercise.

Key words: Whole-body vibrations, posturography, dose-response, equilibrium     

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond‐Blackfan anemia

Diamond‐Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by pure red cell aplasia, various congenital anomalies, and cancer predisposition. We report a novel mutation in the RPS17 gene in a Korean patient with DBA. The mutation occurred in the translation initiation codon, changing Atg to Gtg (c.1A>G), thus disrupting the natural start of the RPS17 protein biosynthesis. This is the third case of DBA from a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c.2T>G. Pediatr Blood Cancer 2010;54:629–631. © 2009 Wiley‐Liss, Inc.     

Trimethoprim‐induced immune hemolytic anemia in a pediatric oncology patient presenting as an acute hemolytic transfusion reaction

A 10‐year‐old male with acute leukemia presented with post‐chemotherapy anemia. During red cell transfusion, he developed hemoglobinuria. Transfusion reaction workup was negative. Drug‐induced immune hemolytic anemia was suspected because of positive direct antiglobulin test, negative eluate, and microspherocytes on smear pre‐ and post‐transfusion. Drug studies using the indirect antiglobulin test were strongly positive with trimethoprim and trimethoprim–sulfamethoxazole but negative with sulfamethoxazole. The patient recovered after discontinuing the drug, with no recurrence in 2 years. Other causes of anemia should be considered in patients with worse‐than‐expected anemia after chemotherapy. Furthermore, hemolysis during transfusion is not always a transfusion reaction. Pediatr Blood Cancer. 2010;55:1201–1203. © 2010 Wiley‐Liss, Inc.