Reasons for Encounters and Comorbidities in Adolescents with Intellectual Disability in General Practice: A Retrospective Analysis of Data from the Ask Study.

Adolescents with intellectual disability have substantial health needs. This retrospective analysis of data from the Ask Study describes reasons for primary care encounters and the prevalence and incidence of chronic physical and mental conditions among a cohort of community-dwelling adolescents with intellectual disability. Participants attended secondary schools in southern Queensland, Australia. Primary care data were extracted from primary care records. Demographic and health information was collected using carer-completed questionnaires. Reasons for primary care encounters, disease prevalence at age 16 years, and disease incidence through adolescence were reported. Data were obtained for 432 adolescents with intellectual disability (median follow-up: 4.1 years). Skin problems (29.4 per 100 encounters) were the most common reason patients presented for primary care, followed by psychological and behavioural problems (14.4 per 100 encounters) and musculoskeletal problems (13.8 per 100 encounters). Conditions with the highest prevalence were autism spectrum disorder (18.6%) and asthma (18.1%). The prevalence of epilepsy, visual impairment, and cerebral palsy were 14.7, 11.1, and 8.0%, respectively. Gastroesophageal reflux had the highest incidence (9.4 cases per 1000 person-years). Adolescents with intellectual disability have significant healthcare needs, which general practitioners need to be aware of and address. Study findings should inform the development of training programs for general practitioners.

Genetic mapping and molecular mechanism behind color variation in the Asian vine snake.

BACKGROUND: Reptiles exhibit a wide variety of skin colors, which serve essential roles in survival and reproduction. However, the molecular basis of these conspicuous colors remains unresolved. RESULTS: We investigate color morph-enriched Asian vine snakes (Ahaetulla prasina), to explore the mechanism underpinning color variations. Transmission electron microscopy imaging and metabolomics analysis indicates that chromatophore morphology (mainly iridophores) is the main basis for differences in skin color. Additionally, we assemble a 1.77-Gb high-quality chromosome-anchored genome of the snake. Genome-wide association study and RNA sequencing reveal a conservative amino acid substitution (p.P20S) in SMARCE1, which may be involved in the regulation of chromatophore development initiated from neural crest cells. SMARCE1 knockdown in zebrafish and immunofluorescence verify the interactions among SMARCE1, iridophores, and tfec, which may determine color variations in the Asian vine snake. CONCLUSIONS: This study reveals the genetic associations of color variation in Asian vine snakes, providing insights and important resources for a deeper understanding of the molecular and genetic mechanisms related to reptilian coloration.

Use of psychotropic medications in adults with intellectual disability: A systematic review and meta-analysis.

OBJECTIVE: This study presents the proportion of adults with intellectual disability using psychotropic medications including antipsychotics, antidepressants, anxiolytics, hypnotics and sedatives, and psychostimulants. METHODS: A search was performed in PubMed, Embase, PsycINFO, Web of Science, and Scopus up to 31 December 2021. Articles were included if they reported the proportion of adults with intellectual disability using psychotropic medications. Frequency of use was estimated using a random effects meta-analysis. Meta-regression analysis was used to assess the association between study-level characteristics and variability in estimates, when heterogeneity was considerable. RESULTS: Twenty-four articles were included in pooled analysis. The pooled prevalence of psychotropic medications was 41% (95% confidence interval: 35-46%). Pooled prevalences of subclasses were as follows: antipsychotics 31% (27-35%), antidepressants 14% (9-19%), anxiolytics 9% (4-15%), hypnotics/sedatives 5% (2-8%), and psychostimulants 1% (1-2%). Heterogeneity was considerable between studies, except for psychostimulants. There was no significant association between assessed characteristics and variability in prevalence estimates. CONCLUSION: Two-fifths of adults with intellectual disability were prescribed psychotropic medications. Antipsychotics and antidepressants were used by one-third and one-seventh of adults, respectively. There was considerable variability between studies, and further investigation is required to determine the source of variability. More studies are needed to better characterise prescribed psychotropic medications, including effectiveness and adverse effects, to ensure appropriate use of these drugs.

Genomic evidence reveals intraspecific divergence of the hot-spring snake (Thermophis baileyi), an endangered reptile endemic to the Qinghai-Tibet plateau.

Understanding how and why species evolve requires knowledge on intraspecific divergence. In this study, we examined intraspecific divergence in the endangered hot-spring snake (Thermophis baileyi), an endemic species on the Qinghai-Tibet Plateau (QTP). Whole-genome resequencing of 58 sampled individuals from 15 populations was performed to identify the drivers of intraspecific divergence and explore the potential roles of genes under selection. Our analyses resolved three groups, with major intergroup admixture occurring in regions of group contact. Divergence probably occurred during the Pleistocene as a result of glacial climatic oscillations, Yadong-Gulu rift, and geothermal fields differentiation, while complex gene flow between group pairs reflected a unique intraspecific divergence pattern on the QTP. Intergroup fixed loci involved selected genes functionally related to divergence and local adaptation, especially adaptation to hot spring microenvironments in different geothermal fields. Analysis of structural variants, genetic diversity, inbreeding, and genetic load indicated that the hot-spring snake population has declined to a low level with decreased diversity, which is important for the conservation management of this endangered species. Our study demonstrated that the integration of demographic history, gene flow, genomic divergence genes, and other information is necessary to distinguish the evolutionary processes involved in speciation.

Characteristics associated with frequent health system use by Australian adults with intellectual disability: A cohort study.

BACKGROUND: In a cohort of adults with intellectual disability who were followed for up to 16-years, we investigated characteristics associated with frequent emergency department (ED) presentations, hospitalisation, and psychiatric care. METHOD: Community-dwelling adults with intellectual disability residing in Queensland, Australia, were followed from 1999 to 2015. Healthcare presentations were extracted from administrative databases. Adults who presented frequently were identified and characteristics associated with frequent presentations were identified. RESULTS: Data from 445 adults were analysed. Chronic disease and challenging behaviour were associated with frequent ED presentations (adjusted odds ratio = 1.8, 95% confidence interval = 1.1-3.0 and aOR = 2.2, 95% CI = 1.2-3.9 respectively). Chronic disease and severe/profound intellectual disability were associated with frequent hospitalisations (aOR = 1.9, 95% CI = 1.2-3.2 and aOR = 2.0, 95% CI = 1.2-3.3 respectively). Psychotropic medication use was associated with frequent psychiatric presentations (aOR = 1.9, 95% CI = 1.0-3.4). CONCLUSIONS: Adults at high risk of frequent healthcare presentations should be identified for programmes of optimising health system use, and potentially improving health care quality.

MEANGS: an efficient seed-free tool for de novo assembling animal mitochondrial genome using whole genome NGS data.

Advances in next-generation sequencing (NGS) technologies have led to an exponential increase in the number of whole genome sequences (WGS) in databases. This wealth of WGS data has greatly facilitated the recovery of full mitochondrial genomes (mitogenomes), which are vital for phylogenetic, evolutionary and ecological studies. Unfortunately, most existing software cannot easily assemble mitogenome reference sequences conveniently or efficiently. Therefore, we developed a seed-free de novo assembly tool, MEANGS, which applies the trie-search method to extend contigs from self-discovery seeds and assemble a mitogenome from animal WGS data. We then used data from 16 species with different qualities to compare the performance of MEANGS with three other available programs. MEANGS exhibited the best overall performance since it was the only one that completed all tests, and it assembled full or partial mitogenomes for all of the tested samples while the others failed. Furthermore, MEANGS selects superior assembly sequences and annotates protein-coding genes. Thus, MEANGS can be one of the most efficient software for generating high-quality mitogenomes so far, the further use of it will benefit the study on mitogenome based on whole genome NGS data. MEANGS is available at https://github.com/YanCCscu/meangs.

Appropriateness of psychotropic medication use in a cohort of adolescents with intellectual disability in Queensland, Australia.

BACKGROUND: Psychotropic medications are sometimes used off-label and inappropriately. This may cause harm to adolescents with intellectual disability. However, few studies have analysed off-label or inappropriate prescribing to this group. AIMS: To examine the appropriateness of psychotropic prescribing to adolescents with intellectual disability living in the community in south-east Queensland, Australia. METHOD: Off-label medication use was determined based on whether the recorded medical condition treated was approved by the Australian Therapeutic Goods Administration. Clinical appropriateness of medication use was determined based on published guidelines and clinical opinion of two authors who specialise in developmental disability medicine (J.N.T. and D.H.). RESULTS: We followed 429 adolescents for a median of 4.2 years. A total of 107 participants (24.9%) were prescribed psychotropic medications on at least one occasion. Of these, 88 (82.2%) were prescribed their medication off-label or inappropriately at least once. Off-label or inappropriate use were most commonly associated with challenging behaviours. CONCLUSIONS: Off-label or inappropriate use of psychotropic medications was common, especially for the management of challenging behaviours. Clinical decision-making accounts for individual patient factors and is made based on clinical experience as well as scientific evidence, whereas label indications are developed for regulatory purposes and, although appropriate at a population level, cannot encompass the foregoing considerations. Education for clinicians and other staff caring for people with intellectual disability, and a patient-centred approach to prescribing with involvement of families should encourage appropriate prescribing. The effect of the National Disability Insurance Scheme on the appropriateness of psychotropic medication prescribing should be investigated.

Chromosomal Evolution in the Amolops mantzorum Species Group (Ranidae; Anura) Narrated by Repetitive DNAs.

In an attempt to analyze the organization of repetitive DNAs in the amphibian genome, 7 microsatellite motifs and a 5S rDNA sequence were synthesized and mapped in the karyotypes of 5 Amolops species. The results revealed nonrandom distribution of the microsatellite repeats, usually in the heterochromatic regions, as found in other organisms. These microsatellite repeats showed rapid changes among Amolops species, documenting the recent evolutionary history within this lineage. In contrast, 5S rDNA was localized in chromosomes 5 of all species, suggesting that these chromosomes are homologous within the monophyletic clade. Furthermore, the heteromorphic X and Y sex chromosomes (chromosomes 5) of A.mantzorum, had identical patterns of 5S rDNA, indicating that the subtelocentric Y resulted from a pericentric inversion. Several microsatellite repeats were found in the heteromorphic sex chromosomes, verifying the association of repetitive DNAs with sex chromosome differentiation in A. mantzorum.

A Tandemly Arranged Pattern of Two 5S rDNA Arrays in Amolops mantzorum (Anura, Ranidae).

In an attempt to extend the knowledge of the 5S rDNA organization in anurans, the 5S rDNA sequences of Amolops mantzorum were isolated, characterized, and mapped by FISH. Two forms of 5S rDNA, type I (209 bp) and type II (about 870 bp), were found in specimens investigated from various populations. Both of them contained a 118-bp coding sequence, readily differentiated by their non-transcribed spacer (NTS) sizes and compositions. Four probes (the 5S rDNA coding sequences, the type I NTS, the type II NTS, and the entire type II 5S rDNA sequences) were respectively labeled with TAMRA or digoxigenin to hybridize with mitotic chromosomes for samples of all localities. It turned out that all probes showed the same signals that appeared in every centromeric region and in the telomeric regions of chromosome 5, without differences within or between populations. Obviously, both type I and type II of the 5S rDNA arrays arranged in tandem, which was contrasting with other frogs or fishes recorded to date. More interestingly, all the probes detected centromeric regions in all karyotypes, suggesting the presence of a satellite DNA family derived from 5S rDNA.

Community pharmacists' perceptions about pharmaceutical service of over-the-counter traditional Chinese medicine: a survey study in Harbin of China.

BACKGROUND: This study aims to investigate community pharmacist's perception on the provision of over-the-counter (OTC) traditional Chinese medicine (TCM) pharmaceutical services; focusing on the areas of their attitude, general practice, perceived barriers and suggested improvements. METHODS: Questionnaire survey targeting community pharmacists in Harbin of China was applied in this study. Questionnaires were distributed and collected at community pharmacies. Data was analyzed by combining descriptive analysis and Chi-test. RESULTS: 280 valid questionnaires were collected, giving a response rate of 78%. Respondents generally showed positive attitude towards OTC TCM pharmaceutical services. However, they were uncertain about whether such pharmaceutical services should be considered as their primary responsibility. Respondents indicated that they acted proactively to find out all the medicines taken by their patients and to remind consumers of possible OTC TCM adverse reactions. However, they were less keen on recommending or re-directing consumers to suitable OTC TCM. The three main barriers hindering the provision of OTC TCM pharmaceutical service identified in this study were "insufficient professional knowledge" (54.6%), "ambiguity of the professional role of pharmacists" (54.6%) and "lack of scientific evidence of OTC TCM" (45.4%). The three main actions considered most relevant to improving pharmaceutical service of OTC TCM were "formulating or refining legislation to clarify the legal and professional role of pharmacists with respect to TCM" (60.7%), "strengthening training of pharmacists with respect to TCM" (57.9%), and "promoting public awareness of the pharmacist's role" (53.6%). According to the results of Chi-test, respondents' perceptions about the attitude, practice, perceived barriers, and improvement suggestions were significantly different depending on the education levels, certificate types and workloads of western medicine. CONCLUSIONS: The community pharmacists in Harbin, China were positive about the provision of OTC TCM pharmaceutical services. However, they were less certain about taking this duty as their primary responsibility. Insufficient knowledge and lack of role definition in the area of OTC TCM were found to be the major factors discouraging the provision of pharmaceutical service on OTC TCM by community pharmacists.

Characteristics of anticancer drug studies registered on the Chinese Clinical Trial Registry (ChiCTR) from 2007 to 2015.

OBJECTIVE: This research aims to examine the basic and methodological characteristics of anticancer drug studies registered on the Chinese Clinical Trial Registry (ChiCTR) and explores the progress of implementation of good clinical practice (GCP) and the challenges it poses for anticancer drug research in China. METHODS: The studies from 2007 to 2015 were downloaded from the ChiCTR and those involving anticancer drugs with evaluation of the main dimensions. The numerical trend of the studies registered each year was analyzed. Chi-square tests were performed to test for significant differences between different funding sources, types of drug and study phases. RESULTS: Six hundred and four anticancer drug studies were collected. The overall number of anticancer drug studies was increased. Significant differences could be seen in the dimensions of multicentre study (P = 0.000), participant number (P = 0.029) and randomization procedure (P = 0.005) for the three funding sources. There were significant differences in the dimensions of multicentre study (P = 0.001), participant number (P = 0.025), collecting samples from participants (P = 0.006), and randomization procedure (P = 0.009) between different kinds of drugs. There were also significant differences in the dimension of participant number (P = 0.025) and randomization procedure (P = 0.016) between different study phases. CONCLUSION: There are problems with study registry criteria and study type classification method. Also, within the studies researched, heterogeneity exists for various dimensions. Different sources of funding, distinct types of drug and disparate phases of study lead to significant differences in certain dimensions of anticancer drug studies.

Community pharmacists' perceptions about pharmaceutical care of OTC western medicine: a survey in Harbin of China.

BACKGROUND: In China, increasingly OTC-western medicine is obtained at the community pharmacy. It is unknown which care the community pharmacists in China provides with such medicines. OBJECTIVE: This study investigated community pharmacists' attitude, practice and perceived barriers about pharmaceutical care of over-the-counter western medicine. Moreover, community pharmacists' suggestions of improvement measures were also collected. METHODS: Questionnaire survey targeting community pharmacist. RESULTS: Respondents generally showed positive attitude towards pharmaceutical care. About 30 % of the respondents reported that they provided pharmaceutical care "whenever necessary", while about 40 % did it "as frequent as possible" or "to all consumers". Respondents considered "ambiguity of the professional role of pharmacists" (50.7 %), "Lack of scientific evidence of over-the-counter western medicine" (42.9), and "Lack of time" (40.0 %) as the main barriers. The 3 most important improvement measures suggested were "Formulating or refining legislation to clarify the legal professional role of pharmacists with respect to western medicine" (63.2 %), "Promoting public education of pharmacist role" (50.7 %), and "Formulating or refining the standards of pharmacists' practice with respect to western medicine" (50.7 %). CONCLUSION: Community pharmacists in Harbin of China have a relatively positive attitude and intention to provide pharmaceutical care of OTC western medicine. However, lack of professional role definition, limited pharmaceutical knowledge and lack of human and financial resources limited the provision of pharmaceutical care by community pharmacists.