Epidemiology of dermatomycoses in children living in Northern Greece 1996-2000

In the 5-years period, 1996-2000, 1045 children under 13 years old were examined for suspected dermatomycosis. In 611 cases fungi were isolated. Male children were mainly affected on the scalp and body area. Girls were more affected in the location of the arms and legs. There was a greater proportion of cases in the age range 2-12 years. The most prominent fungus was Microsporum canis (515 cases) followed by Trichophyton rubrum (34) and Candida albicans (20). Tinea capitis (280 cases) mainly caused by M. canis (276 cases) was the most common clinical form. Tinea corporis (109 cases) mainly caused by M. canis (88 cases), C. albicans (10 cases) and T. rubrum (seven cases) was the second most frequent clinical form.     

Introductory guide to the language of molecular genetics

BACKGROUND: This special section on molecular genetics was invited in order to raise awareness of the potential of molecular genetic approaches to inform child psychologists, psychiatrists and related professionals. As much of the terminology is specific to the field, this introductory guide aims to aid readers who may be unfamiliar with the approaches of this discipline. METHODS: Basic terminology and genetic processes are described, with sections covering 'The Human Genome' and 'Genetic Markers'. RESULTS: The range of genetic markers is growing all the time, but those that are thought to be functional and/or are highly variable are particularly useful. CONCLUSIONS: Genotyping approaches that offer high efficiency, thus allowing for large numbers of genotypes on large numbers of individuals, are likely to come to the fore in the next few years.     

Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia,granulocyte dysfunction,and increased susceptibility to infections

In this study the blood cells of 4 male patients from 2 unrelated families with chronic nonspherocytic anemia and recurrent bacterial infections were investigated. The activity of glucose-6- phosphate dehydrogenase (G6PD) in the red blood cells and in the granulocytes of these patients was below detection level. Moreover, their granulocytes displayed a decreased respiratory burst upon activation. Sequencing of genomic DNA revealed a novel 3-base pair (TCT) deletion in the G6PD gene, predicting the deletion of a leucine at position 61. The mutant G6PD protein was undetectable by Western blotting in the red blood cells and granulocytes of these patients. In phytohemagglutinin-stimulated lymphocytes the G6PD protein was present, but the amount of G6PD protein was strongly diminished in the patients' cells. Purified mutant protein from an Escherichia coli expression system showed decreased heat stability and decreased specific activity. Furthermore, we found that the messenger RNA of G6PD(180-182delTCT) is unstable, which may contribute to the severe G6PD deficiency observed in these patients. We propose the name "G6PD Amsterdam" for this new variant.     

Reducing unnecessary cross-matching: a patient-specific blood ordering system is more accurate in predicting who will receive a blood transfusion than the maximum blood ordering system

Most blood transfusions are given in the operating room. Adoption of the Maximum Surgical Blood Ordering Schedule in the 1970s reduced the amount of blood unnecessarily cross-matched, but the national cross-match-to-transfusion ratio remains at approximately two-to-one. We tested the ability of a patient-specific blood ordering system (PSBOS) to more accurately predict potential operative transfusion. All adult patients who had blood cross-matched before surgery (February through June 1999) for elective operative procedures at the University of Michigan Hospital were identified. Complex surgeries were excluded. Surgeons estimated the expected blood loss for their surgeries, and the expected postoperative hematocrit was calculated using the patient's blood volume, the surgeon-defined expected blood loss, and preoperative hematocrit. Lowest tolerated hematocrit was set at 21% except in patients with coronary artery disease or who were ASA physical status III or more (28%). Sensitivity, specificity, positive predictive value, and negative predictive value of the PSBOS were calculated. Our analysis included 178 cases in which blood was cross-matched before surgery, representing 69 different surgeries and 42 surgeons. Only 16% of patients received an intraoperative transfusion. Of the 156 patients that PSBOS predicted would not require an operating room transfusion, 139 were not transfused. Of the 21 patients PSBOS predicted would be transfused, 11 were. The sensitivity of the algorithm as tested was 41%, the specificity 93%, the positive predictive value was 55%, and the negative predictive value was 89%. We conclude that PSBOS, which includes patient and surgeon variables in transfusion prediction, is more accurate than the Maximum Surgical Blood Ordering Schedule, which uses only surgical procedure. IMPLICATIONS: Currently, many units of blood set aside for surgery are never required, resulting in extra work and expense for blood banks. A formula that included patient weight and hematocrit and typical surgery blood loss was used to predict who would require transfusions. We reduced the predicted number of patients who had blood set aside from 178 to 21.     

A Survey of the Emergency Department Population and Their Interest in Preventive Health Education

OBJECTIVE: To determine which preventive health information the emergency department (ED) population (patients and visitors) would be most interested in having available to them while they spend time in the waiting area. METHODS: This was a prospective survey of consecutive adults seated in the ED waiting area during a representative week on predetermined shifts. The survey asked them to indicate whether they would be interested in obtaining information about the following preventive health issues: breast cancer, prostate cancer, smoking, obesity, stress reduction, exercise programs, alcohol/drugs, HIV, blood pressure screening, immunizations, referrals to primary care physicians, Pap smears, car safety, smoke detectors, domestic and youth violence, depression, gun safety, and safe sex. RESULTS: Of the 1284 subjects approached, 878 (68%) made up the study group (56% female, mean age = 44 years, 60% white); 406 refused. The information people were most interested in obtaining was the following: 52% of the respondents were interested in referral to stress reduction programs, 51% in information about exercise programs, 42% in blood pressure screening, 40% in information about breast cancer screening, 33% in depression information/screening, 33% in prostate cancer screening, 26% in immunization against pneumococcus, 24% in immunization against tetanus, 26% in smoking cessation programs, and 26% in safe driving information. Women were most interested in breast cancer screening (64%); and men, in prostate cancer screening (55%). CONCLUSIONS: Of the 878 subjects in the study group, 96% were interested in obtaining information about one or more preventive health issues. An opportunity exists to respond to this interest by providing material for public health education in the waiting area of EDs.     

Idiopathic focal epilepsies: the “lost tribe”

The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010 ), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many “treats” for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age‐related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow‐wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro‐temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau‐Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro‐clinical features warranting inclusion. In addition, a number of less well‐defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The term “benign” is often used in connection with the IFEs and is increasingly being challenged. Certainly most of these disorders are not associated with the devastating cognitive and behavioural problems seen with early childhood epileptic encephalopathies, such as West or Dravet syndromes. However, it is clear that specific, and sometimes persistent, neuropsychological deficits in attention, language and literacy accompany many of the IFEs that, when multiplied by the large numbers affected, make up a significant public health problem. Understanding the nature, distribution, evolution, risk and management of these is an important area of current research. A corollary to such questions regarding comorbidities is the role of focal interictal spikes and their enduring impact on cognitive functioning. What explains the paradox that epilepsies characterised by abundant interictal epileptiform abnormalities are often associated with very few clinical seizures? This is an exciting area in both clinical and experimental arenas and will eventually have important implications for clinical management of the whole child, taking into account not just seizures, but also adaptive functioning and quality of life. For several decades, we have accepted an evidence‐free approach to using or not using antiepileptic drugs in IFEs. There is huge international variation and only a handful of studies examining neurocognitive outcomes. Clearly, this is a situation ready for an overhaul in practice. Fundamental to understanding treatment is knowledge of aetiology. In recent years, there have been several significant discoveries in IFEs from studies of copy number variation, exome sequencing, and linkage that prompt reconsideration of the “unknown cause” classification and strongly suggest a genetic aetiology. The IFE are strongly age‐related, both with regards to age of seizure onset and remission. Does this time window solely relate to a similar age‐related gene expression, or are there epigenetic factors involved that might also explain low observed twin concordance? The genetic (and epigenetic) models for different IFEs, their comorbidities, and their similarities to other neurodevelopmental disorders deserve investigation in the coming years. In so doing, we will probably learn much about normal brain functioning. This is because these disorders, perhaps more than any other human brain disease, are disorders of functional brain systems (even though these functional networks may not yet be fully defined). In June 2012, an international group of clinical and basic science researchers met in London under the auspices of the Waterloo Foundation to discuss and debate these issues in relation to IFEs. This Waterloo Foundation Symposium on the Idiopathic Focal Epilepsies: Phenotype to Genotype witnessed presentations that explored the clinical phenomenology, phenotypes and endophenotypes, and genetic approaches to investigation of these disorders. In parallel, the impact of these epilepsies on children and their families was reviewed. The papers in this supplement are based upon these presentations. They represent an updated state‐of‐the‐art thinking on the topics explored. The symposium led to the formation of international working groups under the umbrella of “Luke's Idiopathic Focal Epilepsy Project” to investigate various aspects of the idiopathic focal epilepsies including: semiology and classification, genetics, cognition, sleep, high‐frequency oscillations, and parental resources (see www.childhood-epilepsy.org ). The next sponsored international workshop, in June 2014, was on randomised controlled trials in IFEs and overnight learning outcome measures.     

VCAM-1 expression in adult hematopoietic and nonhematopoietic cells is controlled by tissue-inductive signals and reflects their developmental origin

Although expression of vascular cell adhesion molecule 1 (VCAM-1) in endothelial cells and its functional implications have been previously appreciated, VCAM-1 expression in other than endothelial cells, especially hematopoietic cells, has been recently recognized and has not been explored in detail. Using normal mice and mice with a conditional ablation of VCAM-1 through a Tie2-driven cre transgene, we have studied the biodistribution and the pattern of VCAM-1 expression in circulating versus tissue-residing cells before and after their enforced mobilization. In the normal mouse, both at basal hematopoiesis or following mobilization, VCAM-1 expression is confined to myeloid cells residing in hematopoietic tissues, whereas free cells in circulation or in body cavities are devoid of VCAM-1 messenger RNA (mRNA) and protein. However, following culture, proliferating myeloid cells, but not lymphoid cells, express VCAM-1. In the VCAM-1-ablated mouse, there is an increase in circulating progenitors as a consequence of their ongoing release from bone marrow, a process enhanced by splenectomy. We postulate that the main mechanism leading to their release is the ablation of VCAM-1 by fibroblastic and by endothelial cells. Ablation of VCAM-1 in fibroblasts by Tie2-driven cre is a novel finding and likely denotes their developmental ancestry by Tie2-expressing (mesenchymal?) progenitor cells during development.     

Phenotypic and genetic differentiation of anxiety‐related behaviors in middle childhood

Background: Anxiety‐related behaviors (ARBs) are commonly observed during typical development, yet few studies have investigated their etiology in middle childhood. This study aimed to examine both the phenotypic and genetic differentiation of ARB subtypes within the general population at age 7 and 9. It constituted a follow‐up to an earlier study of ARBs in preschool children. Methods: We investigated the phenotypic structure of ARBs in a large population‐based twin sample, comprising 7,834 twin pairs at age 7 and 3,644 twin pairs at age 9. Quantitative genetic modeling techniques were then used to determine the relative influences of genetic and environmental factors upon different types of ARB and upon the covariation between them. Results: Factor analysis supported the presence of five ARB factors at both ages: negative cognitions, negative affect, fear, obsessive–compulsive behaviors, and social anxiety. Multivariate genetic analyses revealed significant genetic effects and a small but significant influence of shared environment for all ARB subtypes. There was a moderate level of genetic specificity for each subtype as well as some shared genetic effects. Shared environmental influences correlated highly across all types of ARB, whereas nonshared environmental effects were largely subtype specific. Conclusions: The current results suggest that ARBs can be differentiated both phenotypically and genetically within middle childhood, with subtypes reflecting symptom groupings of diagnosable disorders but also aspects of temperament. Although some etiological risk factors lead to a generalized vulnerability to anxiety, others may serve to differentiate between different types of ARBs. Depression and Anxiety, 2009. © 2009 Wiley‐Liss, Inc.