Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a congenital defect in the Mullerian duct that results in the absence of a uterus in women. The aetiology of this syndrome is unknown and has been considered a sporadic genetic disease. MRKH, together with anorectal anomaly, is an extremely rare condition and has only been reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula) was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit (ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3, STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them, the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27 biological processes that connected with 23 interactions, and are likely to cause MRKH syndrome in this patient.

Objective:A study was conducted about the putative links of older rural Australians'health knowledge and preparation with their quality of involvement in patient-general practitioner(GP)communication during health intake visits. Methods:It was a cross-sectional study between January 2021 and April 2022.The 32-item quality of involve-ment in communication scale was designed and incorporated into the Survey Gizmo software.This online survey was administered by sending an email request to the Renmark Rotary Club,which actively promoted this study across five rural towns in South Australia.121 participants completed the surveys.Mean-sum scores were cal-culated based on the questionnaire responses to evaluate outcomes,specifically initiation of information,active participation,and emotional expression.We employed different methods including t-tests,ANOVA,and leaner regressions to analyse data. Results:The demographic profile of participants characterised by a female predominance(58.7％,71/121),a ma-jority falling within the 65-＜70 age bracket(47.1％,57/121),and a high level of educational attainment(58.7％had completed high school or higher,71/121).Additionally,35％of the participants predominantly spoke a lan-guage other than English at home.Regarding the initiation of information with GPs,the mean sum-score was(20.5±3.7),indicating a marginally above-average level of engagement.Contrarily,the active participation was suboptimal,as suggested by a mean sum score of(35.9±6.3).Furthermore,the emotional expression was rela-tively low,with a mean score of(13.9±1.8).Substantial variations were discerned in the quality of patient-GP communication,contingent upon factors such as educational background,language spoken at home,health lit-eracy,and preparatory measures for clinical visits.Participants who predominantly spoke a language other than English at home demonstrated significantly lower levels of information initiation with their GPs(P＜0.001).Higher educational attainment was positively correlated with increased active participation(P＜0.001).En-hanced health literacy and thorough visit preparation were significantly associated with increased levels of active participation(P＜0.001). Conclusion:Meaningful engagement through recognition,empowerment,and support(health literacy pro-grams)for older rural adults is suggested for improving their quality of involvement in communication with GPs.

Objective: To carry out the genetic characterization and evolutionary analysis of three avian orthoavulavirus 1 (AOAV-1) isolates from poultry workers with respiratory symptoms. Methods: Using Illumina MiSeq, whole-genome sequencing was carried out to assess the evolutionary dynamics of three AOAV-1 isolates. A phylogenetic and comparative analysis of all coding genes was done using bioinformatics tools. Results: Phylogenetic analysis and genetic distance estimation suggested a close relationship among human- and avian-originated velogenic strains of genotype XIII, sub-genotype XIII.2.1. Several substitutions in the significant structural and biological motifs were exclusively identified in the human-originated strains. Conclusions: To our knowledge, this is the first report of a velogenic AOAV-1 isolate from natural infection of the human upper respiratory tract. Our findings highlight the evolution and zoonotic potential of velogenic AOAV-1 in a disease endemic setting.

Knee osteoarthritis (OA) is a common chronic joint disease that results in pain and disability in many people. Culturalpractice may influence patients’ views about their condition, its related issues and management. The aim of our study wasto explore the perspective about knee OA and its related issues among Malaysian patients with knee OA. Twelve patientsdiagnosed with knee OA (8 females and 4 males) attending physiotherapy sessions at a University Hospital, mean age(SD): 67.1(9.4) years and median visual analog scale score of 5/10 participated in this qualitative study. One to one indepthinterviews were conducted, audio recorded and later transcribed verbatim. Three main themes were identified fromthe transcribed data; knee pain and its’ related issues (reason and aggravating factors of knee pain, coping strategies),impact of knee pain (impact on daily activities and emotions) and physiotherapy management (effects and expectationsof physiotherapy, compliance and adherence towards home exercises). Most participants expressed that their knee painwas aggravated by certain movements that had an effect on their daily activities namely squatting. The findings alsosuggested that physiotherapy management was perceived as secondary prevention rather than a cure. Findings fromthis study provides information about the perceptions and related issues of patients with knee OA. This information mayhelp health professionals in tailoring patient-centered care and provide better management.

The incidence of lower limb amputation is high across the globe and continues to be a major threat to morbidity and mortality. Consequently, the provision of high quality and effective prosthetics services have been known as an essential component for a successful rehabilitation outcome. In Malaysia, amputation prevalence has been increasing in which several main components of service delivering aspects (such as service intervention, prosthetic personnel) should be anticipated to accommodate for the increasing demand. This article highlights the hurdles experienced in providing prosthetic services in Malaysia from multiple aspects such as financial burden to acquire the prosthesis and lack of expertise to produce quality prosthesis. This paramount issues consequently justify for the urgency to carry out national level survey on the current statistics of lower limb amputation and to ascertain the available workforce to provide a quality prosthetics services. Only with accurate and current information from the national survey, strategies and policies aimed at enhancing the outcome from prosthetics services can be achieved.