Pediculosis and the Pediatrician

Head lice commonly evoke feelings of disgust, revulsion, anger, and shame among parents and patients. There should, however, be no great cause for such alarm if a physician suspects pediculosis capitis. The recent introduction of several new pediculicidal drugs now allows a choice among four distinct therapeutic agents, which should substantially improve control of isolated cases and epidemics. Physicians must be aware that consumer groups are pressing public health authorities and drug manufacturers to establish proper treatment standards and safety warnings for the use of these agents. In addition, some controversy surrounds the use of lindane in children. This paper reviews the epidemiology and clinical appearance of pediculosis capitis in children, with emphasis on these recent developments. Pubic lice ( Phthirus pubis ) and body lice ( Pedicutus humanus corporis ), both of which are much less common pediatric infestations, are mentioned only briefly.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/72607/1/j.1525-1470.1984.tb00447.x.pd

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Specific mutations in the gene encoding phenylalanine hydroxylase (PAH), located on chromosome 12q22-24.1, are linked to tetrahydrobiopterin (BH4; sapropterin)-responsive phenylketonuria (PKU). Diagnosis is usually done through the newborn screening for PKU, followed by a BH4 loading test. So far, more than 60 mutant alleles, presenting with a substantial residual PAH activity (average approximately 47%), were identified in more than 500 patients worldwide. We investigated the predictive value of BH4-responsive PAH mutations in Croatian population. From a group of 127 PKU patients, 62 were selected (based on the genotype) as potentially BH4-responsive and 39 loaded with BH4 (20 mg/kg). The overall frequency of BH4-responsiveness (>30% blood phenylalanine reduction within 24 h) was 36% (14 out of 39 patients with 23 different genotypes), significantly less than expected. The best responders were patients with mild hyperphenylalaninemia (4/4; 100%), followed by mild PKU (8/9; 89%), and classical PKU (2/26; 8%). The most common BH(4)-responsive genotypes were p.E390G/p.R408W and p.P281L/p.E390G. These genotypes correspond for approximately >30% residual PAH activity. The p.E390G mutation was 100% associated with BH4-responsiveness, regardless of the second allele (p.R408W, p.P281L, p.F55Lfs, p.L249P). With regard to the predicted relative PAH activity of recombinantly expressed mutant alleles, there was a significant (pG. Five mutations accounted for over two-thirds of investigated alleles: p.L48S, p.R261Q, p.P281L, p.E390G, and p.R408W. Thus, the Croatian PKU population seems to be more homogenous than some other Mediterranean or Central European populations. This study reveals the importance of a full genotype for the prediction of BH4-responsiveness. In contrast to previous assumption and with exception of the p.E390G mutation, single allele mutations are not reliable for the selection of potential PKU candidates for pharmacological therapy with BH4

Saruq al-Hadid: a persistent temporary place in late prehistoric Arabia

In this paper, the authors use the site of Saruq al-Hadid – a ‘persistent temporary place’ located in the mobile dune fields of the north eastern edge of the Rub’ al-Khali desert – as a lens to focus discussion on the variable nature of temporary sites and mobile adaptations within the archaeology of southeastern Arabia, the relationships between temporary sites and permanent settlements, and the evidence for collective events and gatherings from later prehistory into the Islamic period. They discuss evolving arguments regarding sedentary and mobile sites and groups in Arabia from the Neolithic period to the Iron Age, and summarize the material record of human activity at Saruq al-Hadid. This research emphasizes the site’s changing significance as a temporary place and its emergence, in the early Iron Age, as a locus for periodic interaction between multiple community groups

Individual Differences In The Relationship Between Attachment And Nomophobia Among College Students: The Mediating Role Of Mindfulness

Background There is a growing interest in nomophobia, which is defined as the fear of being out of cellular phone contact, or "feelings of discomfort or anxiety experienced by individuals when they are unable to use their mobile phones or utilize the affordances these devices provide”. However, only limited research can be found in terms of its determinants at present. Contemporary literature suggests that the relationships among attachment styles, mindfulness, and nomophobia have not been investigated. Objective This study aims to investigate the mediating effect of mindfulness on the relationship between attachment and nomophobia. In addition, the study also focuses on gender differences in attachment, mindfulness, and nomophobia. A theory-based structural model was tested to understand the essentials of the associations between the constructs. Methods The Experiences in Close Relationships Scale, Nomophobia Questionnaire, and Mindful Attention Awareness Scale were used to collect data from undergraduate students (N=450; 70.9% women [319/450]; mean age=21.94 years [SD 3.61]). Two measurement models (ie, attachment and mindfulness) and a structural model were specified, estimated, and evaluated. Results The structural equation model shows that the positive direct effects of avoidant (.13, P=.03) and anxious attachment (.48, P<.001) on nomophobia were significant. The negative direct effects of avoidant (?.18, P=.01) and anxious attachment (?.33, P<.001) on mindfulness were also significant. Moreover, mindfulness has a significant negative effect on nomophobia for women only (?.13, P=.03). Finally, the Sobel test showed that the indirect effects of avoidant and anxious attachment on nomophobia via mindfulness were significant (P<.001). The direct and indirect effects of anxious attachment, avoidant attachment, and mindfulness altogether accounted for 33% of the total variance in nomophobia. Gender comparison results show that there is a significant difference in attachment based on gender (F2,447=6.97, P=.01, Wilk ?=.97, partial ?2=.03). Women (mean 68.46 [SD 16.96]) scored significantly higher than men (mean 63.59 [SD 15.97]) in anxious attachment (F1=7.93, P=.01, partial ?2=.02). Gender differences in mindfulness were not significant (F4,448=3.45, P=.69). On the other hand, results do show significant gender differences in nomophobia (F4,445=2.71, P=.03, Wilk ?=.98, partial ?2=.02) where women scored significantly higher than men. Conclusions In general, individuals who are emotionally more dependent and crave more closeness and attention in the relationship tend to display higher levels of fear or discomfort when they have no access to their mobile phones. However, gender has a differential impact on the relationship between avoidant attachment and nomophobia. This study establishes the impact of mindfulness on nomophobia for women; therefore, future studies should test the effectiveness of mindfulness-based therapy approaches and confirm whether they are effective and efficient. On the basis of significant gender difference in nomophobia and attachment, we conclude that gender should be taken into account in mindfulness-based treatments dealing with nomophobia.PubMedWoSScopu

Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S

Phenylketonuria (PKU) is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report the updated spectrum of PAH mutations in 61 Serbian PKU patients. By using both DGGE/DNA sequencing and PCR-RFLP, we identified 26 disease-causing mutations (detection rate 99%). The most frequent ones were p.L48S (31%), p.R408W (16.4%), p.P281L (6%), p.E390G (5.2%), and p.I306V (5.2%). Homozygosity value indicated high heterogeneity of Serbian population. To overcome possible pitfalls of patients’ phenotypic classification, we used two parameters: pretreatment/maximal phenylalanine blood concentration and Phe tolerance. The two phenotypes did not match only for patients with p.L48S. Therefore, we used Mann-Whitney statistical test to compare pretreatment/maximal blood Phe concentration and Phe tolerance detected in patients with p.[L48S];[null] and p.[missense];[null] genotypes. For patients with p.L48S, our results implied that Phe tolerance is a better parameter for phenotypic classification. Also, Fisher’s exact test was used to compare p.L48S effect on phenotype of homozygous and functionally hemizygous patients. Our findings showed that effect of p.L48S was altered in functional hemizygotes. Moreover, phenotypic inconsistency found in homozygotes suggested that interallelic complementation and/or additional factors play a role in genotype-phenotype correlation. Since BH4-supplementation therapy is not available in Serbia, we made the first estimation of its potential benefit based on patients’ genotypes. In the analyzed cohort, the total frequency of BH4-responsive mutations was 52.6%. Furthermore, we found a significant number of genotypes (26.2% BH4-responsive and 51% probably BH4-responsive) that may respond to BH4 therapy. This led us to a conclusion that BH4-supplementation therapy could bring benefit to Serbian PKU patients