Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study

Capillary malformation–arteriovenous malformation syndrome (CM‐AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM‐AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM‐AVM. We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CMs noted incidentally during routine skin examination. All demonstrated multiple CMs, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CMs; three had family histories of large, atypical CMs. Six had personal or family histories of AVMs. Genetic evaluation was recommended for all and was pursued by six families; four RASA1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM‐AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs. This study is limited by its small and retrospective nature.     

Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma

Infantile hemangiomas (IHs) are the most common benign tumor of infancy, characterized by a natural history of early proliferation in the first months of life to eventual involution during childhood, often with residual fibrofatty tissue. Once involution has been achieved, IHs do not typically recur. We present two cases of exogenous growth hormone therapy resulting in the recurrence of IHs in late childhood, supported by radiological, immunohistochemical, in vitro, and in vivo evidence.     

Non-cultured cell transplantation in an ovine model of non-ischemic heart failure.

OBJECTIVE: Cell therapy may be a promising alternative or adjunct to current treatment modalities for ischemic heart failure. But little is known on the impact of myogenic cell transplantation in large animal models of non-ischemic cardiomyopathy. The aim of the present study was to explore whether an ovine model of toxin-induced heart disease could benefit from non-cultured skeletal muscle cell transplantation. METHODS: Sequential intracoronary injections of doxorubicin (0.75 mg/kg) were carried out every 2 weeks until echocardiographic detection of myocardial dysfunction. Sheep were then randomly assigned to either non-cultured cell transplantation (n=8) or placebo injection (n=5). For the cell therapy group, a skeletal muscle biopsy (about 10 g) was explanted from each animal approximately 3h before grafting. After thoracotomy, 20 epicardial injections were carried out. The animals were assessed one last time before sacrifice, 2 months after the thoracotomy. Cells were tracked with cmDiI (red fluorescence) and characterized with immunohistochemistry with monoclonal antibodies to a fast skeletal isoform of myosin heavy chain. RESULTS: Two months after intramyocardial grafting, tissue Doppler imaging and conventional echocardiographic assessment of the groups showed a marked improvement in the non-cultured cell therapy group. Ejection fraction (EF) (p<0.05) as well as systolic endocardial velocities (p<0.01) improved versus the placebo group. CmDiI and skeletal myosin heavy chain expression was detected in all animals at 2 months after implantation confirming engraftment of skeletal muscle cells. CONCLUSIONS: In conclusion, our data indicate that non-cultured muscle cell transplantation is feasible and may translate into a functional benefit in an ovine model of dilated heart failure.     

Giant dermoid associated with foot duplication

After resection at birth of an accessory left foot, a white male infant was followed up for a slowly enlarging posterior calf mass of the same leg. When the patient was 8 years old, the mass was thought to have enlarged sufficiently to warrant excisional biopsy. Histologic examination of the tumor was consistent with the diagnosis of a dermoid cyst, revealing a lesion lined with stratified squamous epithelium and containing cutaneous adnexal structures represented by eccrine sweat glands. A congenital dermoid in the extremities is unusual. The prognosis following removal is good, and recurrence is rare.     

Influence of stress simulation parameters on the fracture strength of all-ceramic fixed-partial dentures.

OBJECTIVES: This in vitro study tested the influence of diverse stress simulation parameters on the fracture strength of all-ceramic three-unit fixed partial dentures (FPDs). METHODS: All-ceramic FPDs made of Empress 2 (Ivoclar-Vivadent, FL) were exposed to thermal cycling and mechanical loading (TCML) with varying loading parameters such as chewing force (amount, frequency), thermal loading, lateral jaw motion, abutment material, artificial periodontium or antagonistic denture. To investigate the influence of the abutment material, human teeth, polymer abutments and alloy abutments were used. Two different TCML devices with pneumatic or weight loading were compared. FPDs without aging were used as a control. RESULTS AND SIGNIFICANCE: Combined thermal and mechanical loading significantly reduced the FPD fracture resistance from 1832N to 410N. Duplication of chewing frequency, phase load increase or additional lateral movement did not effect the results. Increasing chewing force, artificial periodontium, and antagonist or abutment material reduced the fracture resistance of the tested FPDs. Different devices with weight or pneumatic loading had no significant influence on the loading capacity of the FPDs. Artificial aging should be performed combining thermal cycling with mechanical loading. Simulation of the artificial periodontium, human antagonists and abutments should be included to achieve a significant aging.     

Human Herpesvirus 6 in Bronchalveolar Lavage Fluid after Lung Transplantation: A Risk Factor for Bronchiolitis Obliterans Syndrome?

Bronchiolitis obliterans syndrome (BOS) is the limiting factor to long-term survival after lung transplantation. Previous studies suggested respiratory viral tract infections are associated with the development of BOS. To identify the impact of virus detection in bronchoalveolar lavage (BAL) fluid, we analyzed BAL samples from 87 consecutive lung transplant recipients for human herpesvirus (HHV)-6, Epstein-Barr virus, Herpes simplex virus 1/2, Cytomegalovirus, respiratory syncytical virus and adenovirus by PCR. Acute rejection, BOS and death were recorded for a mean follow-up time of 3.27 +/- 0.47 years. Results of PCR analysis and other potential risk factors were entered into a Cox regression analysis of BOS predictors and death. Only acute rejection was a distinct risk factor for BOS of all stages, death and death from BOS. HHV-6 was detected in 20 patients. Univariate and multivariate analysis revealed that HHV-6 was associated with an increased risk to develop BOS > orb = stage 1 and death, separate from the risk attributable to acute rejection. Identification of HHV-6 DNA in BAL fluid is a potential risk factor for BOS. Our results warrant further studies to elucidate a possible causal link between HHV-6 and BOS.     

Expression of S14-mRNA and its translational product in differentiating 3T3-L1 cells

During adipogenic conversion of 3T3-L1 cells S14-mRNA increased from undetectable levels in preadipocytes to high levels in differentiated adipocytes (adipocyte-like cells). In vitro translation of hybrid-selected S14-mRNA revealed an identical protein in 3T3-L1 adipocytes and in rat liver with regard to migration properties in two-dimensional gel electrophoresis. No translation product was found in 3T3-L1 preadipocytes. In conclusion, protein-S14 is very similar or even identical in rat lipogenic tissues and in 3T3-L1 adipocytes. Therefore, this cell line can be employed to elucidate further physiological aspects of protein-S14.