Dynamics of ocular surface topography in healthy subjects

Our topography system is an enhancement of a standard TMS-1 corneal topograph instrument (Computed Anatomy Inc., New York, NY, USA). Topographic images are captured at a rate of 4 s(-1), allowing the recording of a series of 120 images in 30 s after a complete blink. In this prospective preliminary study 15 healthy volunteers were examined. The main outcome measures were the time profile of changes in surface regularity index (SRI), surface asymmetry index (SAI) and simulated keratometry values (K1, K2). After a blink there was a tendency for improvement in ocular surface regularity. Later trends were less clear. Our topography system makes possible the detailed evaluation of tear-film dynamics in the post-blink period. The new technique may play an important role in the diagnosis of various tear-film abnormalities; the results may also have significant implications in the planning of refractive surgeries.     

Possibilities of preventing osteoradionecrosis during complex therapy of Tumors of the oral cavity

In recent years, there has been a dramatic increase in the number of tumors of the head and neck. Their successful treatment is one of the greatest challenges for physicians dealing with oncotherapy. An organic part of the complex therapy is preoperative or postoperative irradiation. Application of this is accompanied by a lower risk of recurrences, and by a higher proportion of cured patients. Unfortunately, irradiation also has a disadvantage: the development of osteoradionecrosis, a special form of osteomyelitis, in some patients (mainly in those cases where irradiation occurs after bone resection or after partial removal of the periosteum). Once the clinical picture of this irradiation complication has developed, its treatment is very difficult. A significant result or complete freedom from complaints can be attained only rarely. Attention must therefore be focussed primarily on prevention, and the oral surgeon, the oncoradiologist and the patient too can all do much to help prevent the occurrence of osteoradionecrosis. Through coupling of an up-to-date, functional surgical attitude with knowledge relating to modern radiology and radiation physics, the way may be opened to forestall this complication that is so difficult to cure.     

Plexiform and other unusual variants of palisaded encapsulated neuroma

Palisaded, encapsulated neuroma (PEN) has been described as a predominantly solitary, nodular tumor; plexiform or multinodular growth patterns have not been reported in detail. We reviewed 55 PEN in order to evaluate: 1) the predominant growth patterns: 2) features that may indicate previous trauma; and 3) association with acne-like changes. Sixteen cases (29%) had growth patterns other than the solitary, nodular type. These patterns were: a) plexiform (7/16), b) multinodular (5/16), and c) fungating (4/16). Other unusual features included evidence of trauma, i.e., fibrosis, myxoid change, chronic inflammation (5/16), partially incomplete capsule (6/16), and association with acne-like features (13/16). These results suggest that: 1) plexiform or multinodular growth patterns occur relatively often in PEN; 2) some changes indicate a possible histogenetic relation to traumatic neuroma, probably via secondary traumatization; 3) a high frequency of association with acne-like changes which could imply, but does not prove, an acne-induced histogenesis; and 4) the differential diagnosis of cutaneous plexiform lesions should include PEN.     

Pharmacogenetics of inflammatory bowel disease

There are interindividual variations with regard to efficacy and toxicity of many commonly employed drugs. Major causes of interindividual differences of drug effects include genetic variations of drug-metabolizing enzymes, transporters and targets. Pharmacogenetics studies the genetic background of the interindividual variations of drug response. By means of preliminary genetic screening personalized treatment can be achieved, drugs with low efficacy and many side-effects can be avoided. The pharmacogenetically best studied medications of inflammatory bowel disease are azathioprine/6-mercaptopurine. It is obvious that there is a genetic background of the efficacy and toxicity of corticosteroids, 5-ASA drugs, infliximab and other immunosuppressors as well, but further studies now require to confirm the functional significance of it. Therefore, at present, the application and clinical usefulness of pharmacogenetics in the management of inflammatory bowel disease is limited. The aims of future investigations are understanding of the mechanism of drug action, identification of new drug targets and acquainting with genetic factors that determine drug response.     

Possibilities for cardiovascular gene therapy

Despite recent advances in the management of cardiovascular disease, atherosclerotic coronary artery disease has remained a prevalent cause of mortality and morbidity among industrialized nations. Although very effective in retarding the progression of ischemic heart disease, pharmacotherapies fail to provide long-term cardio-protection and to effectively recruit contractile function of the damaged left ventricle. Moreover, in many patients the lack of compliance to the daily drug administration further reduces the potential benefit of these strategies. The recent advent of gene-based approaches, however, may represent a potential alternative to target ischemic cardiovascular diseases. During the last decade, gene transfer protocols have shown significant improvement in experimental and clinical applications, including vascular restenosis, chronic peripheral arterial insufficiency, chronic myocardial ischemia, myocardial ischemia-reperfusion injury, and congestive heart failure. Gene-based therapy using potentially beneficial gene sequences represents a promising strategy for site-specific cardiovascular treatment. Transduction of host cells may lead to prolonged bioavailability of the transgene product and may overcome the need for continuous or repetitive drug administrations. Although potential benefits are obvious, they need to be carefully balanced against untoward (inflammatory) side effects. In this review, we discuss the significance of this novel therapeutic strategy, the lessons we have learned from animal studies and how we can envision future use of gene-based strategies in clinical practice.     

Genetics of primary biliary cirrhosis

The primary biliary cirrhosis is a chronic cholestatic liver disease, which is characterised by non-suppurative destruction of interlobular bile ducts. The precise etiopathogenesis of primary biliary cirrhosis remains unknown. Evidence suggest that genetic and environmental factors seem to be important. It shows strong heritability according to familial occurrence and monozygotic twins concordance. There is an increase in the degree of monosomy of the X chromosome in female subjects with PBC. There is an association with HLA-DR8 (DR1*08) antigen at least in some populations. Correlation the PBC with polymorphisms of HLA class I, II, III alleles, genes encoding for molecules influencing immune tolerance, apoptosis, cytokine expression, will require additional studies.     

Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients

Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreening of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing). Using this method, the authors identified disease-causing MEN1 gene mutations in 9 probands (small deletions in 2 cases, insertion in 2 cases, nonsense mutations in 2 cases and missense mutations in 3 cases). Of the 9 mutations, 4 proved to be novel mutation not reported in the literature. Family screening indicated de novo mutations in 2 probands. In addition to mutations, several sequence polymorphisms were also detected. The authors conclude that one of the major advantages of genetic screening in families with MEN1 syndrome was the identification of family members carrying the mutation who should be regularly screened for disease manifestations and those not carrying the mutation in whom clinical screening is unnecessary. Also, genetic screening may be useful in cases when MEN1 syndrome is suspected, but the clinical manifestations do not fully establish the diagnosis of MEN1 syndrome.     

Improvement of bone metabolism after infliximab therapy in Crohn's disease

BACKGROUND: Osteoporosis has received increasing attention as a potential complication of Crohn's disease. Among cytokines tumor necrosis factor-alpha plays a pivotal role in the pathogenesis of inflammatory bowel diseases by inducing a wide variety of inflammatory responses, including bone resorption. Only few data are present about the effect of infliximab on bone metabolism. AIMS: The authors evaluated the effect of infliximab on bone metabolism in patients with Crohn's disease. PATIENTS AND METHODS: Twenty seven patients (17 females, 10 males, mean age 32.58 yrs) with refractory fistulizing Crohn's disease were treated with a series of three infusions of 5 mg infliximab per kg at weeks 0, 2, and 6. Biochemical markers of bone formation (osteocalcin) and bone resorption (beta-CrossLaps) were measured before administration of each infliximab infusion. 54 patients were studied with inactive Crohn's disease (Crohn's disease activity index < 150) as a control. RESULTS: There were significant differences in beta-CrossLaps concentrations (ng/ml) between the day 0 and 14 (0.57 +/- 0.32 vs. 0.46 +/- 0.29, p < 0.01) and the day 0 and 42 (0.57 +/- 0.32 vs. 0.45 +/- 0.26, p < 0.05). The osteocalcin levels significantly increased from day 0 to day 42 (21.31 +/- 12.14 vs. 25.64 +/- 16.97, p < 0.05). The serum beta-CrossLaps and osteocalcin levels were 0.47 +/- 0.24, 27.2 +/- 8.44 in the control group respectively. These results differed from the serum levels of active patients before the treatment, but there were no notable differences at the day 42. CONCLUSION: Infliximab therapy in Crohn's disease patients displayed a rapid influence on bone metabolism by enhancing bone formation and decreasing bone resorption. In addition to its mucosal effect affecting the bone homeostasis, indicate a further rationale usage of tumor necrosis factor-alpha blockade in the therapy of inflammatory bowel diseases.     

Our experiences with nephrectomy with special emphasis on using biocompatible materials

We performed 43 open partial nephrectomies with different indications between 1996 and 2004, most of them (29) for renal cancer. We used different types of biocompatible materials for haemostasis. We describe our own recommendations and what is described in literature.