Soultana Meditskou

Etiopathogenesis of hyperostosis frontalis interna: a mystery still.

Hyperostosis frontalis interna is a morphological pattern characterized by single or multiple bony nodules situated on the inner lamina of the frontal bone. It is seldom found in males, but it is a common phenomenon among post-menopausal females in modern societies but relatively rare in antiquity. The etiopathogenesis of the trait is a matter of debate and ranges from genetic predisposition to epigenetic, while endocrine disturbances, aging, and dietary factors are also listed among the causes. We studied the frequency, characteristic features, and etiopathogenesis of the disease in recent cadaveric and dry skull specimens. The frequency of hyperostosis frontalis interna in cadavers and dry skull materials was almost identical, 12.5% and 12.3%, respectively. In cadavers, 87.5% of severe hyperostosis frontalis interna cases were found in females over 65 years-old. Interestingly, in two cadavers we found hyperostotic lesions spreading onto adjacent tissues such as the dura and falx cerebri. We provide some new aspects that may help in better understanding of the etiopathogenesis of hyperostosis frontalis interna. Thereby, we discuss the various etiopathogenesis models found in the literature.

Human pulmonary Dirofilariasis: one more case in Greece suggests that Dirofilaria is a rather common cause of coin lesions in the lungs in endemic areas of Europe.

Herein we describe a case of a 52 year-old male from Greece who presented with a coin lesion in the right lung, which proved to be an infection from Dirofilaria immitis. A careful review of the literature shows that, contrary to the common perception, humans may be frequently infected by Dirofilaria species. For this reason the authors suggest that in every case which presents with a coin lesion in the lung in endemic areas, dirofilariasis should always be considered, and excluded before any other intervention is decided.

Ossifying Fibromyxoid Tumor May Express CD56 and CD99: A Case Report:

Ossifying fibromyxoid tumor (OFMT) is an uncommon soft tissue neoplasm characterized by a combination of myxoid and/or fibrous stroma with areas of ossification. Although most authors postulate a neuroectodermal origin for this peculiar tumor, there is no agreement in the literature regarding its histogenesis. In this article, we present the immunohistochemical findings of a case of a 39-year-old white male with an OFMT of the soft tissue in the mandibular region. The tumor was positive to S-100 protein, glial fibrillary acidic protein, CD99, CD56 and negative to smooth muscle actin, cytokeratins AE1/AE3, epithelial membrane antigen, and CD68. To the best of our knowledge, this is the first case reported to be positive to CD56 and CD99. Immunoreactivity to these two antibodies, together with reactivity for S-100 protein and glial fibrillary acidic protein, suggests that OFMT is of a neuroectodermal origin. In our opinion, in the absence of reactivity to at least one neuroectodermal marker one should seriously question a diagnosis of OFMT.

Feasibility and Significance of Preclinical Diagnosis in Hypertrophic Cardiomyopathy.

Psoriasis is a common, chronic, autoimmune condition characterized by excessive growth and differentiation of keratinocytes that affects approximately 1% to 3% of the general population in the United States. Mounting evidence has led to an increasing awareness that psoriasis as a disease is more than “skin deep” and that it shares systemic manifestations with other chronic inflammatory diseases such as Crohn’s and diabetes mellitus. Recent studies have not only shown an increased prevalence of cardiovascular risk factors in psoriasis but have also identified psoriasis as an independent risk factor for developing cardiovascular disease. This calls for an approach beyond managing traditional risk factors, which remain the standard guidelines at present.Preclinical diagnosis in hypertrophic cardiomyopathy (HCM) refers to the detection of functional or histopathological abnormalities in subjects who carry any HCM-causing gene mutation, before or even without the development of left ventricular hypertrophy [genotype(+)/phenotype(-)subjects]. The concept that HCM pathology may exist in the absence of left ventricular hypertrophy is quite old but the ability to recognize the presence of early myocardial changes is quite new. Lessons from animal models have shown that in experimental human HCM, myocardial cell mechanical dysfunction precedes histopathological changes, such as myocyte disarray, fibrosis, and hypertrophy. Several clinical reports have demonstrated that the majority of HCM genotype(+)/phenotype(-) subjects display myocardial functional or histopathological changes, such as reduced tissue Doppler imaging-derived systolic and diastolic velocities, abnormal electrocardiogram, cardiac magnetic resonance-visualized myocardial crypts, mitral leaflet elongation, and evidence of a fibrotic state, such as increased type I procollagen synthesis, cardiac magnetic resonance-increased myocardial extracellular volume, and late gadolinium myocardial enhancement. All these signs have been proposed as preclinical markers of HCM. At present the separation of such a group of subjects in the early phase of their disease provides the opportunity to test new therapies to prevent the development of fibrosis, hypertrophy, and dysfunction.

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence

The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible. A literature search was performed in PubMed and Scopus electronic databases. Search terms used were: long QT syndrome, channelopathies, QT prolongation, cardiac ion channels. The above-mentioned search terms were always combined with the term: sudden infant death syndrome. Study types considered eligible were: case–control, family pedigree analysis, case reports. The prevalence of LQTS-induced SIDS according to six broad genetic studies ranges from 3.9 to 20.6%, with an average of 12%. Since LQTS can be effectively managed, LQTS-related SIDS cases could be prevented, provided that a screening method is efficient enough to detect all the affected infants.

Preparticipation cardiovascular screening in competitive athletes: the case in a Greek population

There has been a growing debate recently regarding preparticipation cardiovascular screening in competitive athletes. Two trends are dominating the field today: the ‘‘American,’’ which claims that a good medical history and a thorough physical examination are enough (Maron et al., 2007), and the ‘‘European,’’ which believes that the inclusion of an ECG is essential in risk stratification (Corrado et al., 2005). Our opinion is that the issue of ‘‘preparticipation cardiovascular screening in competitive athletes’’ is far more complex. We read with great interest the review by Hernelahti et al. (2008), which proposes a Nordic model of preparticipation cardiovascular screening in competitive athletes. This is in line with the European guidelines regarding the preparticipation methodology, i.e., personal and family history, clinical examination, and ECG. The main difference between the Nordic model and the European guidelines is that the former suggests preparticipation screening only for the so-called elite athletes. For the rest active in sports young persons, the Nordic model suggests improved education in the context of seeking medical advice in case of a positive family history or alarming exercise-related symptoms. The proposed Nordic model generates some concerns. Unfortunately, sudden death is not a ‘‘privilege’’ of competitive athletes, because it may also occur in other young population subgroups, such as school pupils, high school students, or college students, during ordinary physical activity at school or during a football or a basketball game. Additionally, it is not exceptional for sudden death to occur in ‘‘pure’’ amateur athletes o35 years old during physical activities. Are we justified to exclude these groups from routine cardiovascular screening? To our knowledge, there are no published data covering all the aspects of this problem. Every country has its own policy regarding cardiovascular screening of young people, competitive or not. For example, in our country, Greece, there has been an overuse of medical examinations during the last decade. Every new state employee has to undergo thorough screening including physical examination, medical history, chest x-ray, and ECG, whereas the threshold of performing a cardiac echocardiogram is very low. Full screening, which includes physical examination, medical history, chest x-ray, ECG, and also an echocardiogram, if necessary, is also compulsory for all high school graduates who are candidates for the police and physical education academies. Physical education teachers in public or private institutes do not accept children, teenagers, or even senior subjects for participation in sports, unless they provide a medical certificate of good health signed by a cardiologist. The increased public awareness is reflected in the fact that the vast majority of the parents ‘‘demand’’ an echocardiogram for their children in addition to physical examination and ECG. Such policies complicate the matter even more by exhausting public funding and diverting funds to the private medical sector, with further medical and financial consequences. We may choose to remain skeptical about the Greek model, although we cannot simply reject it. In our opinion, a full screening, including medical history, physical examination, and ECG, should be performed in all young persons who plan to participate in any exercise program of various degrees of strength, i.e., school pupils, high school students, college students, amateur, or competitive athletes. Many structural or arrhythmogenic heart diseases, such as hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, long QT syndrome, and Brugada syndrome, which dominate the list of sudden death causes in athletes, cannot be excluded, unless an ECG is performed. To complicate things even further, it should be noted that 10% of patients with hypertrophic cardiomyopathy may have a normal ECG. Therefore, in many cases, an echocardiogram is mandatory to exclude the presence of the disease. In accordance to this statement, Maron et al. (1996) demonstrated that only 3% of 158 athletes with structural heart diseases who died suddenly were suspected to have cardiovascular abnormalities Scand J Med Sci Sports 2009: 19: 297–298 & 2009 John Wiley & Sons A/S Printed in Singapore . All rights reserved DOI: 10.1111/j.1600-0838.2008.00876.x

Athletes with repolarization abnormalities.

n engl j med 358;21 www.nejm.org may 22, 2008 2296 although retrospective in nature, should not be overlooked, considering that amiodarone increases the defibrillation threshold of ICDs and may interfere with antitachycardia pacing by slowing the rate of ventricular tachycardia.4 Therefore, until data from a prospective trial become available, antiarrhythmic therapy — amiodarone in particular — should not be considered preferable to catheter ablation in patients with ICDs who have repetitive ventricular arrhythmias.

Normal systolic function in hypertrophic cardiomyopathy: reality or myth?

We would like to thank Efthimiadis et al. for their interest in our work. Indeed, it was long believed that patients with hypertrophic cardiomyopathy (HCM) had normal or supranormal systolic function despite mutations in genes encoding for sarcomeric proteins. This concept was, at least partly, based on the use of endocardial indices of systolic function such as ejection fraction. Ejection fraction is generally normal or supranormal in HCM patients. However, it is well known that ejection fraction is a …

Elevated plasma levels of miR-29a are associated with hemolysis in patients with hypertrophic cardiomyopathy

BACKGROUND miR-29a is a small non-coding RNA that is known to repress collagen synthesis. Interestingly, elevated plasma miR-29a was reported to correlate with pronounced myocardial fibrosis in patients with hypertrophic cardiomyopathy. The objective of this study was to elucidate the origin of plasma miR-29a, and evaluate its significance as a biomarker. METHODS miR-29a expression was evaluated in plasma (n=50) and myocardial samples (n=4) from patients with hypertrophic cardiomyopathy using RT-qPCR. RESULTS Although miR-29a was highly expressed in the myocardium, miR-29a plasma levels did not show any correlation with serum troponin I levels (rs=-0.12, p=0.43), and the heart does not release significant amounts of miR-29a into the circulation via exosome secretion. Conversely, miR-29a was present in red blood cells, and plasma levels correlated significantly with markers of hemolysis: lactic dehydrogenase (rs=0.36, p=0.01) and the absorbance of oxyhemoglobin at 414nm (rs=0.39, p=0.006). Furthermore, the association between serum haptoglobin and the maximal blood flow velocity in the left ventricle outflow tract (rs=-0.42, p=0.008) indicated that intravascular hemolysis is a manifestation of the disease. CONCLUSIONS miR-29a is highly expressed in myocardial tissue from patients with hypertrophic cardiomyopathy. In contrast, plasma miR-29a is primarily of nonmyocardial origin and is correlated significantly with the extent of hemolysis observed in these patients.

Perspectives on sudden death prevention in hypertrophic cardiomyopathy.

Sudden death (SD) is the most dramatic event in hypertrophic cardiomyopathy (HCM), often representing the first clinical manifestation of the disease, and the first concern of the clinicians who take care of such patients. HCM is now recognized as the primary cause of SD in young persons (<35 years of age), including trained athletes. Current data in unselected HCM patient populations report an approximate 0.7% per year incidence of SD, with the total cardiovascular mortality being around 1.4% annually. This review, incorporating contemporary research findings, addresses the major aspects of SD and its prevention in HCM. The traditional risk factors and other controversial risk factors for SD or the arbitrators for that event are thoroughly analyzed and the need for the development of a unique and accurate factor for SD risk stratification is discussed. Rather than enumerating clinical studies and guidelines, challenging problems concerning all aspects of SD in HCM, are critically appraised, highlighting current speculations and recommending future directions.