Genetic polymorphisms and heart failure.

Heart failure is a complex clinical syndrome. There is evidence for a genetic contribution to the pathophysiology of heart failure. Considering the fundamental role of neurohormonal factors in the pathophysiology and progression of cardiac dysfunction and hypertrophy, variants of genes involved in this system are logical candidate genes in heart failure. In this report, genetic polymorphisms of the major neurohormonal systems in heart failure will be discussed. Studies on polymorphisms of the renin-angiotensin-aldosterone system (RAAS), adrenergic receptor polymorphisms, endothelin (receptor) polymorphisms, and a group of miscellaneous polymorphisms that may be involved in the development or phenotypic expression of heart failure will be reviewed. Research on left ventricular hypertrophy is also included. The majority of genetic association studies focused on the ACE I/D polymorphism. Initial genetic associations have often been difficult to replicate, mainly due to problems in study design and lack of power. Promising results have been obtained with genetic polymorphisms of the RAAS and sympathetic system. Considering the evidence so far, a modifying role for these polymorphisms seems more likely than a role of these variants as susceptibility genes. Besides the need for larger studies to examine the effects of single nucleotide polymorphisms and haplotypes, future studies also need to focus on the complexity of these systems and study gene-gene interactions and gene-environment interactions.     

Hypointense transcerebral veins at T2*-weighted MRI: a marker of hemorrhagic transformation risk in patients treated with intravenous tissue plasminogen activator.

Prediction of hemorrhagic transformation (HT) in patients treated by intravenous recombinant tissue-type plasminogen activator (rt-PA) is a challenging issue in acute stroke management. HT may be correlated with severe hypoperfusion. Signal changes may be observed at susceptibility-weighted magnetic resonance imaging (MRI) within large perfusion defects. A signal drop within cerebral veins at T2*-weighted gradient-echo MRI may be expected in severe ischemia, and may indicate subsequent risk of HT. The authors prospectively searched for an abnormal visibility of transcerebral veins (AVV) within the ischemic area in patients with hemispheric ischemic stroke, before they were treated with intravenous rt-PA therapy. Any correlation between AVV and baseline clinical or MRI findings, or further HT, was noted. An AVV was present in 23 of 49 patients (obvious, n = 8; moderate, n = 15), and was supported by severe hemodynamic changes at baseline MRI. The AVV was correlated with the occurrence of parenchymal hematoma type 2 at computed tomography during the first week (r = 0.44, P = 0.002). Five of six type 2 parenchymal hematomas occurred in association with obvious AVV. At multiple regression analysis, two baseline MRI factors had an independent predictive value for HT risk during the first week: the AVV and the cerebral blood volume ratio (Nagelkerke R2 = 0.48).     

Quality of training and professional outcomes of medical students in pediatric residency programs: survey of graduating classes between 1990 and 2000, in the western interregion]

OBJECTIVES: Little information is available to incoming students in pediatrics residency programs on the experiences of past residents. The objective of this study was to investigate the pediatrics training programs and determine the professional outcomes of graduating residents between 1990 and 2000 in the Western Interregion. POPULATION AND METHODS: Questionnaires were distributed to the 187 medical students enrolled in pediatrics residency programs between 1990 and 2000 in the six university hospital centers of the Western Interregion. The questions concerned the details of training, the modes of residency positions, and current professional and personal situations. One hundred and sixty-five (88%) individuals responded. RESULTS: Seventy-seven percent of the practicing pediatricians stated that the training they had received during residency was adapted to their current practice. This percentage was higher for hospital staff physicians (82%) than for the physicians in private practice (50%) or those with salaried positions outside the hospital system (58%). One hundred and twenty-four had either completed post-residency training (97) or were doing so (27) at the time of the survey. All but one were professionally active, three quarters of them in hospitals and, of these, most were in the hospitals where they had trained. Eighty-six percent of the practicing pediatricians said they were satisfied with their professional work and 73% said they were satisfied with their personal lives. CONCLUSION: These results support the current reflection on reforming the residency training program in pediatrics, especially with regard to its prolongation and the diversification of the training options to take into account the individual student's professional orientation.     

Carotid surgery. Is regional anesthesia always appropriate?

We retrospectively studied a series of 385 carotid endarterectomies performed either under general anesthesia (242) or under local anesthesia (145) to compare the peri-operative mortality and morbidity rate and to identify factors which may influence the choice of anesthesia. The rate of transient ischaemic attacks (TIA), stroke, death, combined mortality, severe neurological and cardiac morbidity were not statistically different. Under general anesthesia, more shunts were inserted (17% versus 7%, p less than 0.05) and more myocardial infarctions occurred (5% versus 0%, p less than 0.05). However, more strokes due to technical imperfection were seen under regional anesthesia. We concluded that regional anesthesia is more appropriate in patients with coronary artery disease and in patients at risk of intolerance to cross clamping. General anesthesia is more appropriate in poorly cooperative patients or in those with unfavorable operative conditions.     

Incidence of multiple sclerosis in Hordaland, western Norway: a fluctuating pattern

The incidence of multiple sclerosis (MS) was studied in the county of Hordaland, western Norway. A significant increase in incidence in the period 1958-1987, a decline followed by a gradual increase in mean age at onset, geographic differences in time trends and a biphasic pattern revealed by a birth cohort analysis support the theory of real time-space fluctuations in the incidence of MS over time.     

Synthesis and characterisation of novel nanospheres made from amphiphilic perfluoroalkylthio-beta-cyclodextrins.

This work describes the synthesis of new amphiphilic perfluorohexyl- and perfluorooctyl-propanethio-beta-cyclodextrins and the comparison of the ability of these molecules and alkyl analogue, nonanethio-beta-cyclodextrin to form nanospheres. Nanospheres were prepared using nanoprecipitation method (perfluoroalkylthio-beta-cyclodextrin in THF [0.11 x 10(-3)M], stirring rate 700rpm, addition of aqueous phase at 64 degrees C into organic phase at 50 degrees C). They were characterised by Photon Correlation Spectroscopy (PCS) and by electron microscopy (SEM and cryo-TEM). The nanospheres prepared from these new beta-cyclodextrin derivatives have an average size of 260nm, and appear to be spherical in cryo-TEM images. Whereas alkyl analogue forms polydisperse aggregates with sizes in the range 60-350nm.     

Importance of the ratio between ionized and total Mg in serum or plasma: new data on the regulation of Mg status and practical importance of total Mg concentration in the investigation of Mg imbalance.

There is an inverse relationship between Mg balance and the ratio ionized Mg/total Mg in serum or plasma: in Mg excess, the ratio is decreased and in Mg deficiency the ratio is increased. It works as if a subtle homeostasic compensatory reaction modified the proportion of the most biologically active fraction of blood Mg in order to reduce the effects of Mg imbalance. Easy, available and unexpensive, the evaluation of total Mg in plasma or serum appears as a better marker than ionized Mg in Mg imbalance: it should be priviledged as the initial investigation in clinical practice.     

Gadolinium ring enhancement and mass effect in acute disseminated encephalomyelitis

A 9-year-old boy presented with a subacute history of optic neuritis followed by brainstem involvement, with fever and a lymphocytic pleocytosis in the cerebrospinal fluid. Gadolinium-enhancing ring lesions were demonstrate in the white matter of the cerebrum, brainstem and cerebellum on day 17 of the illness, all appearing simultaneously as part of a monophasic illness. A parietal lesion exerted mass effect. Needling and biopsy yielded no evidence of a pyogenic lesion, tumour or tuberculosis and showed vasculitis. There was insufficient material for myelin staining. Dexamethasone therapy lead to rapid improvement of the radiological lesions: MRI and CT on day 34 of the illness showed complete clearing of the lesions except for residual abnormality at the biopsy site.     

Rhinophyma. The value of progressive dermabrasion]

After briefly summing up the nosology of rhinophyma, the authors report their experience with the surgical correction of this nasal disease, on the basis of eight cases. They explain their reasons for giving up dermasection and preferring dermabrasion.