Deletion 22q13.3 syndrome

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (CGH) is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy). Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements. Individuals with deletion 22q13 should have routine examinations by the primary care physician as well as genetic evaluations with referral to specialists if neurological, gastrointestinal, renal, or other systemic problems are suspected. Affected individuals benefit from early intervention programs, intense occupational and communication therapies, adaptive exercise and sport programs, and other therapies to strengthen their muscles and increase their communication skills. No apparent life-threatening organic abnormalities accompany the diagnosis of deletion 22q13

Can Reproductive Health Voucher Programs Improve Quality of Postnatal Care? A Quasi-Experimental Evaluation of Kenya’s Safe Motherhood Voucher Scheme

This study tests the group-level causal relationship between the expansion of Kenya’s Safe Motherhood voucher program and changes in quality of postnatal care (PNC) provided at voucher-contracted facilities. We compare facilities accredited since program inception in 2006 (phase I) and facilities accredited since 2010-2011 (phase II) relative to comparable non-voucher facilities. PNC quality is assessed using observed clinical content processes, as well as client-reported outcome measures. Two-tailed unpaired t-tests are used to identify differences in mean process quality scores and client-reported outcome measures, comparing changes between intervention and comparison groups at the 2010 and 2012 data collection periods. Difference-in-differences analysis is used to estimate the reproductive health (RH) voucher program’s causal effect on quality of care by exploiting group-level differences between voucher-accredited and non-accredited facilities in 2010 and 2012. Participation in the voucher scheme since 2006 significantly improves overall quality of postnatal care by 39% (p=0.02), where quality is defined as the observable processes or components of service provision that occur during a PNC consultation. Program participation since phase I is estimated to improve the quality of observed maternal postnatal care by 86% (p=0.02), with the largest quality improvements in counselling on family planning methods (IRR 5.0; p=0.01) and return to fertility (IRR 2.6; p=0.01). Despite improvements in maternal aspects of PNC, we find a high proportion of mothers who seek PNC are not being checked by any provider after delivery. Additional strategies will be necessary to standardize provision of packaged postnatal interventions to both mother and new-born. This study addresses an important gap in the existing RH literature by using a strong evaluation design to assess RH voucher program effectiveness on quality improvement

Population Dynamics of the Rubber Plantation Litter Beetle Luprops tristis, in Relation to Annual Cycle of Foliage Phenology of Its Host, the Para Rubber Tree, Hevea brasiliensis

The population dynamics of the rubber plantation litter beetle, Luprops tristis Fabricius 1801 (Coleoptera: Tenebrionidae) was assessed in relation to the phenology of leaf shedding and defoliation pattern of para rubber trees, Hevea brasiliensis Müll. Arg (Malpighiales: Euphorbiaceae), during a two year study period. The abundance of adults, larvae and pupae per 1m2 of litter sample was recorded. Post dormancy beetles appeared in leaf litter following annual leaf shedding, whereas larvae, pupae and teneral adults were present after leaf flush. No stages were recorded from plantations following the summer rains until the annual litter fall in the next season. Parental adults peaked at the time of leaf sprouting and tender leaf fall. Larvae and teneral adults peaked at the time of premature fall of green leaves and flowers. Teneral adults of six age classes were recorded and all entered dormancy irrespective of the feeding time available to each age class. Females outnumbered males in the parent generation, while the sex ratio of new generation adults was not biased towards either sex. The phenological stages of rubber trees included leaf fall in late December and early January, leaf sprouting and new leaf production in January and flowering in February. All feeding stages of L. tristis peaked in abundance when premature leaves are most abundant in the leaf litter. Prediction of the timing of appearance of various developmental stages of L. tristis in plantations, invasion into buildings and intensity of population build up in rubber belts is possible by tracking the phenology of leaf fall in rubber plantations, time of return of post dormancy adults and the onset of summer rainfall. Perfect synchrony was recorded between the field return of parental adults with annual leaf shedding, the oviposition phase of parental adults with tender leaf fall at the time of leaf sprouting, and larval and teneral adult stages with premature fall of leaves. Premature leaf availability is suggested as contributing to the reproductive efficiency of parental adults, the survival of early developmental stages and of new generation adults during dormancy

Accelerating Policy Decisions to Adopt Haemophilus influenzae Type b Vaccine: A Global, Multivariable Analysis

Jessica Shearer and colleagues analyze data from 147 countries to identify factors that influence the time taken to introduce routine vaccination against Haemophilus influenzae type b (Hib)

The Nordic Subpopulation Research Programme: prediction of treatment outcome in patients with low back pain treated by chiropractors - does the psychological profile matter?

<p>Abstract</p> <p>Background</p> <p>It is clinically important to be able to select patients suitable for treatment and to be able to predict with some certainty the outcome for patients treated for low back pain (LBP). It is not known to what degree outcome among chiropractic patients is affected by psychological factors.</p> <p>Objectives</p> <p>To investigate if some demographic, psychological, and clinical variables can predict outcome with chiropractic care in patients with LBP.</p> <p>Methods</p> <p>A prospective multi-center practice-based study was carried out, in which demographic, clinical and psychological information was collected at base-line. Outcome was established at the 4^thvisit and after three months. The predictive value was studied for all base-line variables, individually and in a multivariable analysis.</p> <p>Results</p> <p>In all, 55 of 99 invited chiropractors collected information on 731 patients. At the 4^thvisit data were available on 626 patients and on 464 patients after 3 months. Fee subsidization (OR 3.2; 95% CI 1.9-5.5), total duration of pain in the past year (OR 1.5; 95% CI 1.0-2.2), and general health (OR 1.2; 95% CI 1.1-1.4) remained in the final model as predictors of treatment outcome at the 4^thvisit. The sensitivity was low (12%), whereas the specificity was high (97%). At the three months follow-up, duration of pain in the past year (OR 2.1; 95% CI 1.4-3.1), and pain in other parts of the spine in the past year (OR1.6; 1.1-2.5) were independently associated with outcome. However, both the sensitivity and specificity were relatively low (60% and 50%). The addition of the psychological variables did not improve the models and none of the psychological variables remained significant in the final analyses. There was a positive gradient in relation to the number of positive predictor variables and outcome, both at the 4^thvisit and after 3 months.</p> <p>Conclusion</p> <p>Psychological factors were not found to be relevant in the prediction of treatment outcome in Swedish chiropractic patients with LBP.</p

Scaffolding development and the human condition

This paper addresses the concept of semiotic scaffolding by considering it in light of questions arising from the contemporary challenge to the humanities. This challenge comes from a mixture of scientistic demands, opportunism on the part of Western governments in thrall to neo-liberalism, along with crass economic utilitarianism. In this paper we attempt to outline what a theory of semiotic scaffolding may offer to an understanding of the humanities’ contemporary role, as well as what the humanities might offer to the elucidation of semiotic scaffolding. We argue that traditional humanist positions adopted in defence of the humanities fail to articulate the enhancement of humanity that semiotic scaffolding represents. At the same time, we note that the concept of scaffolding is sometimes in danger of taking on a functionalist perspective which understanding the humanities modus operandi is likely to dispel. Putting forward these arguments, we draw on the work of Peirce, Cassirer and Sebeok in elucidating the structural and ‘future-orientated’ benefits of the scaffolding process as it suffuses the humanities

High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

Intellectual disability (ID) is a heterogeneous disorder caused by chromosomal abnormalities, monogenic factors and environmental factors. 22q13 deletion syndrome is a genetic disorder characterized by severe ID. Although the frequency of 22q13 deletions in ID is unclear, it is believed to be largely underestimated. To address this issue, we used Affymetrix Human SNP 6.0 array to detect the 22q13 deletions in 234 Chinese unexplained ID patients and 103 controls. After the Quality Control (QC) test of raw data, 22q13 deletions were found in four out of 230 cases (1.7%), while absent in parents of the cases and 101 controls. A review of genome-wide microarray studies in ID was performed and the frequency of 22q13 deletions from the literatures was 0.24%, much lower than our report. The overlapping region shared by all 4 cases encompasses the gene SHANK3. A heterozygous de novo nonsense mutation Y1015X of SHANK3 was identified in one ID patient. Cortical neurons were prepared from embryonic mice and were transfected with a control plasmid, shank3 wild-type (WT) or mutant plasmids. Overexpression of the Y1015 mutant in neurons significantly affected neurite outgrowth compared with shank3 WT. These findings suggest that 22q13 deletions may be a more frequent cause for Chinese ID patients than previously thought, and the SHANK3 gene is involved in the neurite development

Human mandibular shape is associated with masticatory muscle force

Understanding how and to what extent forces applied to the mandible by the masticatory muscles influence its form, is of considerable importance from clinical, anthropological and evolutionary perspectives. This study investigates these questions. Head CT scans of 382 adults were utilized to measure masseter and temporalis muscle cross-sectional areas (CSA) as a surrogate for muscle force, and 17 mandibular anthropometric measurements. Sixty-two mandibles of young individuals (20-40 years) whose scans were without artefacts (e.g., due to tooth filling) were segmented and landmarked for geometric morphometric analysis. The association between shape and muscle CSA (controlled for size) was assessed using two-block partial least squares analysis. Correlations were computed between mandibular variables and muscle CSAs (all controlled for size). A significant association was found between mandibular shape and muscle CSAs, i.e. larger CSAs are associated with a wider more trapezoidal ramus, more massive coronoid, more rectangular body and a more curved basal arch. Linear measurements yielded low correlations with muscle CSAs. In conclusion, this study demonstrates an association between mandibular muscle force and mandibular shape, which is not as readily identified from linear measurements. Retrodiction of masticatory muscle force and so of mandibular loading is therefore best based on overall mandibular shape

A DNA-based method for studying root responses to drought in field-grown wheat genotypes

Root systems are critical for water and nutrient acquisition by crops. Current methods measuring root biomass and length are slow and labour-intensive for studying root responses to environmental stresses in the field. Here, we report the development of a method that measures changes in the root DNA concentration in soil and detects root responses to drought in controlled environment and field trials. To allow comparison of soil DNA concentrations from different wheat genotypes, we also developed a procedure for correcting genotypic differences in the copy number of the target DNA sequence. The new method eliminates the need for separation of roots from soil and permits large-scale phenotyping of root responses to drought or other environmental and disease stresses in the field.Chun Y. Huang, Haydn Kuchel, James Edwards, Sharla Hall, Boris Parent, Paul Eckermann, Herdina, Diana M. Hartley, Peter Langridge & Alan C. McKa