Different additional risk factors for cerebral infarctions associated with the factor V Leiden mutation in a family

Several cases with cerebral infarctions associated with the factor V Leiden mutation have been reported. However, bearing in mind the large number of asymptomatic individuals with the factor V Leiden mutation, additional risk factors for cerebral infarctions should be considered. In this report, two siblings with cerebral infarctions associated with a combination of heterozygous factor V Leiden mutation and different additional exogenous and endogenous thrombogenic risk factors are described. Respiratory problems in the perinatal period and increased lipoprotein (a) concentrations in the first patient and an episode of gastroenteritis from Shigella infection and persistent high titers of serum anticardiolipin and beta(2)-glycoprotein I antibodies in the second patient were recorded as additional thrombogenic risk factors. Furthermore, both patients were found to be heterozygous for the methylenetetrahydrofolate reductase gene C677T mutation. These findings suggest that even in the same family, different additional thrombogenic risk factors can be present in infants with cerebral infarctions associated with the factor V Leiden mutation. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of these infants with cerebral infarctions associated with the factor V Leiden mutation and of their related family members. To our knowledge, the second patient in this study is the first patient reported to have cerebral infarctions associated with the combination of the factor V Leiden mutation and persistent high titers of serum beta(2)-glycoprotein I antibodies.     

Acute necrotizing encephalopathy of childhood in non-Asian patients: report of three cases and literature review

Acute necrotizing encephalopathy of childhood is a novel type of parainfectious encephalopathy with a racial and geographic predilection, rarely reported from other than East Asian areas. The objective was to describe the clinical, imaging, and other laboratory findings of non-Asian patients with acute necrotizing encephalopathy. Data were collected from three patients diagnosed in Athens over a 4-year period plus 16 cases reported from other European and North American countries. One of the Greek children died, and the other two had a normal outcome. A neuropathologic examination in the fatal case showed edematous necrosis without inflammatory, reactive, or proliferative changes. Data from Greek and other non-Asian patients support the homogeneity of the disease worldwide.     

Granuloma faciale associated with adenocarcinoma of the prostate

A 65‐year‐old man presented to the Dermatology Outpatient Department complaining of an eruption of 10 years’ duration. He also suffered from hypertension, coronary artery disease, and diabetes mellitus for which he received mononitrate isosorbide, propranolol, nifedipine, aspirin, and glimepinide; he showed well‐controlled hypertension and blood glucose. He had consulted several dermatologists since the appearance of the eruption. A diagnosis of cutaneous leishmaniasis had been made. Although the diagnosis had not been confirmed by histology, the patient had received injections of steroids without any apparent improvement. On clinical examination, the eruption was noticed on the front and anterior area of the scalp ( Fig. 1 ). It consisted of pink‐ to red‐colored papules, which had become confluent and formed large plaques. The lesions had extended with time and were totally asymptomatic.

Figure Figure 1  Open in figure viewer PowerPoint Clinical appearance at initial consultation     

Epigenetic alterations in sporadic basal cell carcinomas

Basal cell carcinoma (BCC) is the most common malignant human neoplasm characterized by slow growth and virtual absence of metastases. Recently, it has become evident that along with genetic mutations epigenetic alterations play a key role in the pathogenesis of human cancer. We searched for promoter methylation of hMLH1, RASSF1A, DAPK, APC, DCR1 and DCR2 genes and BRAF mutations in BCCs in association with the clinicopathological parameters and the histological subtypes of the tumours. Fifty-two BCCs, 17 FFPE along with 35 fresh tissue samples with matching normal tissues for 26 cases were analyzed by methylation-specific PCR to assess the methylation status of hMLH1, RASSF1A, DAPK, APC, DCR1 and DCR2 genes after sodium bisulfite treatment of the tumour and normal DNA. hMLH1 and DCR1 gene expression was investigated by immunohistochemistry. BRAF mutations were studied by high resolution melting analysis. Methylation was detected at a variable frequency of 44, 33, 32.5, 32 and 14 % of DCR2, APC, DCR1, RASSF1 and DAPK promoters, respectively, whereas methylation of hMLH1 promoter was absent. No BRAF mutations were found. There was no correlation between the frequency of the promoter methylation of the above-mentioned genes and the clinicopathological features or the histological subtypes of the tumours. The relatively high frequency of RASSF1A, DCR1, DCR2 and APC promoter methylation may imply that methylation constitutes an important pathway in the tumourigenesis of BCC that could provide new opportunities in developing epigenetic therapies for BCC patients. Nevertheless, further studies are needed to establish the above-mentioned hypothesis.     

The effect of neonatal jaundice on biotinidase activity

BACKGROUND: Jaundice is one of the most common and one of the vexing problems that can occur in newborns. A newborn screening test for biotinidase deficiency has been added to many national screening programmes. AIM: To clarify the problem of false-positive screening tests in neonates, especially in term babies, we evaluated the biotinidase activity in the serum of fullterm, premature and small-for-dates newborn infants with jaundice. METHODS: 1296 fullterms (controls N=426), 246 prematures (controls N=86) and 156 small-for-dates babies (controls N=38) aged 2-3 days with jaundice were included in the study. In jaundiced neonates and controls, 3.0 ml of blood was drawn for the evaluation of total bilirubin (t.bil), liver enzymes and biotinidase activity in the serum using a fluorimetric method. In order to test whether or not t.bil causes an artifact in the previous method, biotinidase activity was also evaluated in a number of jaundiced newborns using an HPLC method. Additionally, a preliminary in vitro experiment was carried out to test whether t.bil is an inhibitor of the enzyme. RESULTS: Biotinidase activities in the group of controls of prematures (3.30+/-1.2 mmol/min/l) and small-for-dates babies (3.34+/-0.8 mmol/min/l) were lower than those of term babies (4.99+/-1.1 mmol/min/l, p<0.001). T.bil and liver enzymes showed a statistically significant inverse correlation with biotinidase activity (p<0.001) in all the jaundiced infants of this study. Additionally, biotinidase activity, evaluated in a number of neonates with both fluorimetric and HPLC methods showed similar results. Preincubation of the serum enzyme with t.bil (>10 mg/dl) resulted in a 50% or more inhibition. CONCLUSIONS: (a) Low biotinidase activity was found in term babies, prematures and small-for-dates with jaundice. (b) The low activity of the enzyme could be due to their impaired liver function. (c) The high t.bil levels in the studied groups may play the role of an "inhibitor" of the enzyme. (d) Gestational age as well as t.bil levels should always be written on Guthrie cards for a correct evaluation of biotinidase activity.     

Obesity and metabolic syndrome as related to cardiovascular disease

The metabolic syndrome (MetS) constitutes a multifaceted disorder, including obesity, dyslipidemia, hyperglycemia and hypertension, associated with an increased propensity towards cardiovascular disease (CVD). Besides this, accumulating data suggest the involvement of nontraditional, novel, cardiovascular risk factors in MetS. Among them, insulin resistance seems to possess a predominant role in MetS-related CVD in obese patients. Furthermore, adipose tissue fatty acid metabolism, increased incidence of oxidative stress and endothelial dysfunction, and excessive production of adipocyte derivatives, known as adipokines, have all been proposed to contribute to the pathogenesis of CVD in obese patients with MetS. Lifestyle interventions, such as weight loss and increased physical activity, have long been the cornerstone for the treatment of obesity-related disorders. With the exception of obesity, pharmaceutical interventions targeting each disorder of MetS have yielded considerable improvement in cardiovascular morbidity and mortality. The long-term management of obesity and its complications seems promising but requires further investigation.     

Correlation of foot length with height and weight in school age children

Even though the forensic value of the correlation between foot length and human height and weight has been studied, there is a lack of studies regarding this subject in school age children. The aim of this study is to evaluate this relationship in a large sample of juveniles in a European country (Greece). The sample of the study consisted of 5093 children (average age: 11.47+/-2.71 years), who were examined during school period from 1996 to 2005. The Harris-Beath Mat for footprinting was the device used for measuring foot length. Statistical analysis included univariate and multivariate linear regression models. All statistical models were found to be significant and indicated that both right and left foot length were independent predictors of either height or weight. From all models fitted, the model having the greater predictive value was described by the formula: height (cm)=34.113+3.716 x (right foot length (cm)) +1.558 (if girl) + 2.499 x (age(years)), R(2)=0.852. It was also found that the models which contained right rather than left foot length as an explanatory variable predicted more accurately both height and weight. The results of this study suggest that foot length can estimate the stature and weight of a juvenile, especially after adjusting for age and sex.     

Facilitators and Barriers to Implementing Healthy School Canteen Intervention among Malaysian Adolescents: A Qualitative Study

This study evaluated implementing a school-based intervention to promote healthier dietary habits in the school environment among Malaysian adolescents using qualitative methods. This qualitative study was conducted in four secondary schools in Perak and Selangor (two urban and two rural schools) that received the intervention (either training or training and food subsidy). A total of eight focus groups (68 students aged 15 years old) and 16 in-depth interviews were conducted with canteen operators, school convenience shop operators, school teachers and school principals in each school. Thematic analysis was used to analyse the qualitative data to identify suitable themes. We found several initiatives and changes by the schools’ stakeholders to change to a healthy school canteen programme. The stakeholders also noticed the students’ food preferences that influence healthy food intake in canteens and convenience shops. The food vendors and school administrators also found that subsidising healthy meals might encourage healthy eating. Among barriers to implementing healthy school initiatives were the student’s perception of healthy food and their eating habits, which also affect the food vendors’ profit if they want to implement a healthy canteen. The school-based intervention has the potential to promotes healthier eating among school adolescents. Continuous training and monitoring of canteen operators and convenience shops are needed, including building partnerships and educating the students on healthy eating to cultivate healthy eating habits.     

Complement factor H and LOC387715 gene polymorphisms in a Greek population with age-related macular degeneration

Background

Age-related macular degeneration (AMD) is the leading cause of severe visual loss among people over 60 years old. The lack of a broadly effective treatment for AMD underscores the need to identify causative biomarkers that could serve as preventive targets. Thus far, two major susceptibility loci for AMD have been identified, CFH T1277C and LOC387715 G270T. The primary goal of the present study was to elucidate whether these polymorphisms are major genetic determinants of AMD in a Greek population.

Patients and methods

A clinic-based, case-control association study was conducted, comprising 100 Greek patients with early and late-stage AMD and 115 independent controls of Caucasian origin. All participants underwent clinical examination including best-corrected visual acuity, intraocular pressure, and dilated fundus examination. Moreover, they were genotyped for CFH T1277C and LOC387715 G270T polymorphisms, by direct sequencing and ARMS PCR, respectively.

Results

The frequency of the CFH 1277C allele was significantly higher in AMD patients in comparison with controls while the odds ratios (ORs) for AMD were 4.4–5.5. Statistical comparison of early and advanced AMD patients, on the basis of CFH genotype, revealed that the CFH 1277C allele was associated with both subgroups when compared with the controls (P?<?0.001). When statistical comparison was performed between early and advanced patients on the basis of CFH genotypic frequencies, the CC genotype was found to be more prevalent in advanced AMD patients (P?=?0.008, OR?=?2.3). The frequency of the LOC387715 270 T allele was higher in AMD patients in comparison with controls (P?<?0.04) while the ORs for AMD were 1.4–2. No statistically significant differences were located between the early AMD patients and controls, on the basis of LOC387715 genotype (P?=?0.189). On the contrary, the T270G polymorphism was associated with advanced AMD (P?=?0.04). Moreover, the TT genotype was more prevalent in patients with advanced AMD (P?=?0.011, OR?=?1.7) when compared with early AMD patients. Assessment of the combined contribution of CFH T1277C and LOC387715 G270T SNPs showed an independent manner of action of these polymorphisms in the development of the disease.

Conclusions

The replication of the reported associations of CFH T1277C polymorphism with AMD suggest that the 1277C allele could serve as a high-risk genetic marker for the development of AMD and the progression of the disease to the advanced clinical stage in the Greek population.     

The effect of a fructo-oligosaccharide supplemented formula on gut flora of preterm infants

AIM: The intestinal flora of breast-fed infants is generally dominated by bifidobacteria which have beneficial properties. Their presence is due to various components of breast milk, including prebiotic substances. This prospective double-blind study compared the numbers of bifidobacteria in the stool flora of bottle-fed preterm infants randomized to receive for 14 days either a formula with prebiotic fructo-oligosaccharides at a concentration of 0.4 g/dL or the same formula with maltodextrin as a placebo. METHODS: Within 0-14 days after birth, 56 healthy bottle-fed infants were enrolled to receive either the prebiotic or placebo. Faecal samples were taken at inclusion day and at study day 7. The number of bifidobacteria in the stools, stool characteristics and somatic growth were recorded during the study. RESULTS: In the group fed fructo-oligosaccharides, both the numbers of bifidobacteria in the stools and the proportion of infants colonized with them were significantly higher as compared to the placebo group (p=0.032 and p=0.030 respectively). There was also a higher number of bacteroids in the fructo-oligosaccharide group as compared to the placebo (p=0.029). At the same time, reduction was noted in the numbers of Escherichia coli and enterococci. (p=0.029, and p=0.025, respectively). Supplementation had also significant influence on stool frequency per day (p=0.0080). CONCLUSION: An infant formula containing a small quantity of prebiotic oligosaccharides is well accepted and leads to rapid growth of bifidobacteria in the gut of bottle-fed preterm infants while decreasing the numbers of pathogenic microorganisms.