The efficacy of excimer laser (308 nm) for vitiligo at different body sites

BACKGROUND: The treatment with XeCl-excimer laser generated 308-nm UVB radiation has shown promising results in patients with vitiligo. OBJECTIVE: In this controlled, prospective trial we studied the primary efficacy (start and grade of repigmentation) and patient's satisfaction of XeCl-excimer laser for treatment of vitiligo patches at different body sites and re-evaluated the achieved repigmentation 12 months after the end of therapy. METHODS: Twenty-five patients with generalized or localized vitiligo with a total of 85 lesions at different body sites were enrolled in this study. Vitiligo patches were treated with 308-nm XeCl-excimer laser 3 times a week for 6 to 10 weeks. The overall repigmentation grade of each treated lesion was evaluated once a week on a 5 point scale rating from 0 (no repigmentation), 1 (1-5%), 2 (6-25%), 3 (26-50%), 4 (51-75%), to 5 (76-100%). RESULTS: Twenty-four patients completed the study. Within 6 to 10 weeks of treatment 67% of the patients (16/24) developed follicular repigmentation of at least one of their vitiligo lesions. Lesion repigmentation started after a mean of 13 treatments in lesions located on the face, trunk, arm, and/or leg (high-responder location), and after a mean of 22 treatments in lesions located on the elbow, wrist, dorsum of the hand, knee, and/or dorsum of the foot (low-responder location). Untreated control lesions and lesions located on the fingers did not achieve any repigmentation. After 10 weeks of treatment repigmentation of more than 75% was found in 25% (7/28) of lesions of the high-responder location group versus 2% (1/43) of lesions of the low-responder location group. In most cases, laser-induced repigmentation was persistent, as determined 12 months after the end of treatment. CONCLUSIONS: 308-nm excimer laser is an effective modality for the treatment of vitiligo. However, similar to other non-surgical treatment modalities, the therapeutic effect is mainly dependent on the location of vitiligo lesions.     

From alarm systems to smart houses

The percentage of senior citizens in the Netherlands will rise in coming years. The expected percentage for the year 2010 of persons over age 65 in the total population is 15%. More persons over age 65 than ever before will continue to live in their own environment. Emergency response systems (ERS) can support independent living. The most common type of organization distributing ERS is a small, partly subsidized local alarm organization run by a social welfare office for the elderly. Government subsidy has been reduced in recent years which has motivated small organizations to join together into larger regional organizations in order to get a more solid financial base. On the other hand new semi-commercial and commercial organizations have come into being. These developments are part of the growing importance of home care, leading to more medical applications of ERS. User satisfaction with ERS is high. Portable triggers can enhance the effectiveness of the system. However, many users do not wear the portable trigger when feeling well. Future technical developments will result in multifunctionality of ERS-devices. In the long term the hardware of today will be integrated in a multimedia home terminal replacing the telephone. The portable trigger will remain the only specific hardware at home for ERS.     

False-negative results by polymerase chain reaction due to contamination by glove powder

The polymerase chain reaction (PCR) technique has become an important, widely employed method for the detection and quantitation of the nucleic acid sequences used in the diagnosis and monitoring of genetic and infectious diseases. Much attention has been directed at the problem of false-positive PCR results, which are generally attributed to low-level laboratory contamination of amplified sequences ("carryover"). In contrast, few investigators have commented on the somewhat less frequent, but equally problematic, false-negative PCR results. Investigation of the source of sporadic false-negative PCR reactions found that glove powder, inadvertently introduced into tubes when gloves are changed in an effort to reduce false-positive results, can nonspecifically inhibit each of the major steps in the PCR detection process. Methodologic precautions are recommended to minimize this problem.     

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

In a distinct autosomal recessive variant of epidermolysis bullosa, EB- MD, life-long skin blistering is associated with late-onset muscular dystrophy of unknown etiology. Electron microscopy of these patients' skin suggests that tissue separation occurs intracellularly at the level of the hemidesmosomal inner plaque, which contains plectin, a high molecular weight cytoskeletal associated protein, also expressed in the sarcolemma of the muscle. In this study, we report two patients with EB-MD, each with a homozygous deletion mutation in the plectin gene, PLEC1. In the first case, the proband and her similarly affected sister had a homozygous 9 bp deletion mutation, designated as 2719de19, which resulted in elimination of three amino acids, QEA, in a sequence of 23 amino acids entirely conserved between the mouse and human sequences. The proband in the second family demonstrated a single nucleotide deletion at position 5866, designated as 5866delC, which resulted in frameshift and a premature termination codon for translation 16 bp downstream from the site of deletion. The absence of plectin in the hemidesmosomes, as reflected by negative immunofluorescence with an anti-plectin antibody (HD-1), associated with fragility of basal keratinocytes, implicates plectin as critical for binding of intermediate keratin filament network to hemidesmosomal complexes. The function of plectin as a putative attachment protein also in the muscle would explain the clinical phenotype consisting of cutaneous fragility and muscular dystrophy in EB-MD.      

Perceived prevalence of peanut allergy in Great Britain and its association with other atopic conditions and with peanut allergy in other household members

BACKGROUND: Despite increasing awareness of peanut allergy, little is known of its prevalence. We report on a two-stage interview survey conducted in Great Britain. METHODS: A total of 16434 adults (aged 15+ years) reported their own allergies and atopies and named cohabitants with peanut allergy (stage 1). Follow-up interviews were conducted with identified sufferers from peanut allergy (stage 2). RESULTS: At stage 1, peanut allergy was reported in 58 respondents and 205 other household members. When we accounted for cases where peanut allergy was unconfirmed or newly reported at stage 2, the prevalence, based on 124 confirmed sufferers, was estimated as 0.48% (95% confidence interval 0.40%-0.55%). The prevalence in children (0.61%, 0.41%-0.82%) was slightly higher than in adults; age-of-onset was strikingly earlier. Prevalence was strongly associated with other atopies, particularly tree-nut allergy. Cases tended significantly to cluster in households. Half of cases had never consulted a doctor. Exactly 7.4% reported being hospitalized after a reaction. CONCLUSIONS: Peanut allergy is reported by 1 in 200 of the population and is commoner in those reporting other atopies. The fact of similar rates in children and adults argues against a recent marked rise in prevalence. The frequency and potential lethality of this disorder emphasize the need for sufferers to demographic factors, other food allergies, atopic conditions, and allergy in family/household members. Our study comprised a screening survey and detailed interviews with sufferers identified. The frequency and potential lethality of this disorder emphasize the need for sufferers to receive correct medical advice on management [corrected].     

The Content of Support of Persons with Profound Intellectual and Multiple Disabilities: An Analysis of the Number and Content of Goals in the Educational Programmes

Background This study focuses on the support of persons with profound intellectual and multiple disabilities (PIMD) by analysing the number and content of formulated goals in the educational programmes. Methods The programmes of 145 persons with PIMD were analysed. The number of long‐ and short‐term goals as well as the number of goals reached was determined. To clarify the content of given support, goals were categorized into different domains. Results In total, 220 long‐term goals were formulated (mean: 2; SD: 0.88; range: 1–4), of which 14% were reached. Of the 1624 short‐term goals (mean: 11; SD: 10.07; range: 0–51) formulated, 52% were reached. Further detailed analyses show that although the number of goals was not dependent on age, the number of long‐term goals reached was significantly higher in children; 52% of the 220 long‐term goals focused on ‘interaction and social’ roles and 68% of the 1624 short‐term goals focused on ‘gathering knowledge about the client’. Conclusions Results indicate that support to persons with PIMD especially focuses on ‘interaction and social roles’. Especially, health issues seem to be under‐represented. Short‐term goals mainly focus on gathering knowledge. Further studies are needed to clarify if professionals indeed lack detailed information about their clients or if available knowledge (e.g. in files) is not transferred into day‐to‐day practice.     

Transfer of Information Between Parents and Teachers of Children with Profound Intellectual and Multiple Disabilities at Special Educational Centres

Background: Because of the complexity of the problems that affect children with profound intellectual and multiple disabilities (PIMD), communication between parents and teachers at special educational centres is indispensable. Logs are widely used in the Netherlands although only little is known about the effectiveness and efficiency of communication logs. Method: Sentences written in communication logs were analysed with two categorization systems. Frequencies and percentages of topics in each category were computed for teachers and for parents. Results: Most entries concern ‘exchanging experiences’ and ‘requesting or giving information’; teachers write significantly more than parents. Conclusion: The results show that communication logs are not very effective or efficient in relation to an adequate information transfer between parents and professionals to optimize the mutual support of children with PIMD. The article concludes with some recommendations for the practical use of these communication logs.     

Coarse-to-fine eye movement strategy in visual search

Oculomotor behavior contributes importantly to visual search. Saccadic eye movements can direct the fovea to potentially interesting parts of the visual field. Ensuing stable fixations enables the visual system to analyze those parts. The visual system may use fixation duration and saccadic amplitude as optimizers for visual search performance. Here we investigate whether the time courses of fixation duration and saccade amplitude depend on the subject's knowledge of the search stimulus, in particular target conspicuity. We analyzed 65,000 saccades and fixations in a search experiment for (possibly camouflaged) military vehicles of unknown type and size. Mean saccade amplitude decreased and mean fixation duration increased gradually as a function of the ordinal saccade and fixation number. In addition we analyzed 162,000 saccades and fixations recorded during a search experiment in which the location of the target was the only unknown. Whether target conspicuity was constant or varied appeared to have minor influence on the time courses of fixation duration and saccade amplitude. We hypothesize an intrinsic coarse-to-fine strategy for visual search that is even used when such a strategy is not optimal.     

Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia

In the first phase of the Northern Ireland PKU Study, we used automated sequencing to identify the spectrum of mutations in a random group of 32 unrelated phenylketonuria (PKU) families. We also investigated 7 Northern Irish patients with mild hyperphenylalaninaemia not requiring dietary intervention (MHP, previously referred to as non-PKU HPA). Disease-causing mutations were identified on all 78 investigated chromosomes. We found 23 different mutations, including 20 missense, 1 nonsense and 2 splice site mutations. All mutations were located within exons or at intronexon boundaries of the phenylalanine hydroxylase gene. Seven mutations occurred at CpG sites, confirming these sites as mutation hot-spots in PKU. Mutations R408W and I65T are the two commonest PKU mutations in the Northern Irish population. Two mutations (T380M and V245A) can be characterized as MHP mutations; they are quasi dominant markers for MHP since they cause mild hyperphenylalaninaemia even when occurring in conjunction with the most severe PKU mutations. The results have proven valuable for the development of a routine PKU mutation analysis system in Northern Ireland.