RESULTS: Twenty-two patients (from 16 unrelated families) were molecularly diagnosed as XLA. Genetic testing revealed fifteen distinct mutations, including four splicing mutations, four missense mutations, three nonsense mutations, three short deletions, and one large indel mutation. These mutations scattered throughout the BTK gene and mostly affected the kinase domain. All mutations including five novel mutations were predicted to be pathogenic or deleterious by in silico prediction tools. Genetic testing confirmed that eleven mothers and seven sisters were carriers for the disease, while three mutations were de novo. Flow cytometric analysis showed that thirteen patients had minimal BTK expression (0-15%) while eight patients had reduced BTK expression (16-64%). One patient was not tested for monocyte BTK expression due to insufficient sample. Pneumonia (n=13) was the most common manifestation, while Pseudomonas aeruginosa was the most frequently isolated pathogen from the patients (n=4). Mild or asymptomatic COVID-19 was reported in four patients.
CONCLUSION: This report provides the first overview of demographic, clinical, immunological and genetic data of XLA in Malaysia. The combination of flow cytometric assessment and BTK genetic analysis provides a definitive diagnosis for XLA patients, especially with atypical clinical presentation. In addition, it may also allow carrier detection and assist in genetic counselling and prenatal diagnosis.
METHODS: A preliminary study was conducted using a pre/posttest one-group quasi-experimental design. A self-administered questionnaire was provided to 37 registered nurses from the cardiac ward of a tertiary hospital. The care pathway was developed on the basis of the current literature, local guidelines, and expert panel advice. The autonomy, teamwork, and burnout levels at the beginning and 4 months after disseminating the care pathway were measured. Implementing the care pathway included educational sessions, training in using the care pathway, and site visits to monitor nursing practices.
RESULTS: Most of the respondents were female (94.6%; n = 35), the median age of the respondents was 26.5 years (interquartile range [IQR] = 23-31), and the median length of the clinical experience was 4 years (IQR = 2-8). A statistically significant reduction in the mean burnout score was observed (mean of 58.12 vs 52.69, P < .05). A slight improvement in autonomy level was found, although it was not statistically significant. No statistically significant improvement was found in the teamwork levels.
CONCLUSION: The care pathway was associated with reduced nurse burnout. The results showed a slight improvement in autonomy level among coronary care nurses after implementing the care pathway. From a practical viewpoint, the current study can help policy makers and managers reduce burnout. This study highlights the importance of using care pathways as a tool to reorganize the care process and improve the working environment. Managers must support nursing decisions and provide continuous education to enhance nurses' autonomy, which may increase understanding of respective roles, leading to higher levels of teamwork. However, with a small sample size, caution must be applied, as the findings might not be generalizable.
OBJECTIVES: To assess UAE community pharmacists' knowledge, toward women's issues in epilepsy.
METHODS: a cross-sectional research method was employed. A team of seven pharmacy students in their final year visited a randomly selected sample of community pharmacies in the UAE and face-to-face interviews were conducted with the pharmacists using a structured questionnaire. The questionnaire includes two parts; Eight questions designed to elicit data about the demographics of the study participants and 12 questions eliciting insights into the participants' knowledge of women's issues in epilepsy.
RESULTS: A total of 412 community pharmacist were recruited in the study. The overall level of knowledge about women's issues in epilepsy was good and the average knowledge score was 81% with a 95% confidence interval (CI) [79.1, 82.7%]. The results of multivariate analysis showed higher knowledge scores in chain pharmacies (OR 1.37; 95% CI 1.12-1.67), Chief pharmacists (OR 1.44; 95% CI 1.01-2.06), Pharmacists in charge (OR 3.46; 95% CI 2.7-4.45), pharmacists with 1-5 Years of experience (OR 2.87; 95% CI 1.71-4.82), pharmacists with 6-10 Years (OR 2.63; 95% CI 1.58-4.38), pharmacists with >10 years (OR 3.13; 95% CI 2.03-4.83), graduation form regional universities (OR 1.37; 95% CI 1.12-1.67), graduation form international universities (OR 1.73; 95% CI 1.36-2.20) and receiving a training on epilepsy (OR 1.36; 95% CI 1.12-1.67).
CONCLUSION: While the findings reveal an overall promising level of knowledge among community pharmacists regarding the issues faced by women with epilepsy, pinpointing which clinical and demographic factors have the most significant impact on this knowledge would permit the implementation of tailored educational interventions. Workshops and modules targeting the issues faced by women with epilepsy would further raise the knowledge and competence among community pharmacists in this area, ensuring better pharmaceutical care for this population.
OBJECTIVE: This study aimed to compare Foley balloon catheter placement for 6 vs 12 hours in induction of labor after 1 previous cesarean delivery.
STUDY DESIGN: A randomized controlled trial was conducted in a university hospital in Malaysia from January 2022 to February 2023. Eligible women with 1 previous cesarean delivery admitted for induction of labor were enrolled. Participants were randomized after balloon catheter insertion for 6 or 12 hours of passive ripening before balloon deflation and removal to check cervical status for amniotomy. The primary outcome was the induction of labor to delivery interval. The secondary outcomes were largely derived from the core outcome set for trials on induction of labor (Core Outcomes in Women's and Newborn Health [CROWN]). The Student t test, Mann-Whitney U test, chi-square test, and Fisher exact test were used as appropriate for the data.
RESULTS: Overall, 126 women were randomized, 63 to each intervention. The mean induction of labor to delivery intervals were 23.0 (standard deviation, ±8.9) in the 6-hour arm and 26.6 (standard deviation, ±7.1) in the 12-hour arm (mean difference, -3.5 hours; 95% confidence interval, -6.4 to -0.7; P=.02). The median induction of labor (Foley balloon catheter insertion) to Foley balloon catheter removal intervals were 6.0 hours (interquartile range, 6.0-6.3) in the 6-hour arm and 12.0 hours (interquartile range, 12.0-12.5) in the 12-hour arm (P
METHODS: A total of 207 elderly patients aged 60 years and above with chronic diseases attending a university-based primary care clinic were recruited via a systematic randomised sampling method from the clinic patient attendance registry. Respondents were assessed using self-administered online questionnaires distributed via mobile devices. The questionnaire assessed awareness, i.e. ability to correctly answer a self-reported questionnaire on basic dementia knowledge; (adapted from Northern Ireland Life and Times Survey 2010), risk of MCI; (using Towards Useful Aging (TUA)-WELLNESS screening questionnaire) and help-seeking behaviour. Bivariate analysis was used to determine factors associated with dementia awareness.
RESULTS: The response rate was 77.1%, with the majority of participants were females, Chinese and had secondary school education. 39.1% of participants were categorised as high risk of developing MCI. The majority (92.8%) had low dementia awareness and had never shared their concerns regarding dementia (93.2%) nor had any discussion (87.0%) on cognitive impairment with their physicians. Three factors had an association with total dementia awareness score, i.e., younger age group, higher risk of MCI and presence of cardiovascular diseases have significantly lower awareness score (p
METHODS: Prospectively collected data from the AARC database were analyzed.
RESULTS: Of the 1249 AH patients, (aged 43.8 ± 10.6 years, 96.9% male, AARC score 9.2 ± 1.9), 38.8% died on a 90 day follow-up. Of these, 150 (12.0%) had mild-moderate AH (MAH), 65 (5.2%) had SAH and 1034 (82.8%) had ACLF. Two hundred and eleven (16.9%) patients received CS, of which 101 (47.87%) were steroid responders by day 7 of Lille's model, which was associated with improved survival [Hazard ratio (HR) 0.15, 95% CI 0.12-0.19]. AARC-ACLF grade 3 [OR 0.28, 0.14-0.55] was an independent predictor of steroid non-response and mortality [HR 3.29, 2.63-4.11]. Complications increased with degree of liver failure [AARC grade III vs. II vs I], bacterial infections [48.6% vs. 37% vs. 34.7%; p
METHODS: We used different methods, including one-way analysis of variance (ANOVA), linear regression, mediating effect, and moderating effect, to test the four hypotheses. Four experiments in the study were conducted from May 2022 and August 2022 and involved undergraduates from a university and volunteers recruited online. All participants are adults and verbally agree to participate voluntarily. Study 1a (N = 96 (male 47, female 49), participants from a business school in China) measured resource scarcity in the laboratory experiments and verified the effect of resource scarcity on consumer HISC preference by using linear regression (H1). Study 1b (N = 191 (male 98, female 93), students and teachers from a university in China) measured resource scarcity in the laboratory experiments and manipulated positively and negatively valenced experiences. Using the PROCESS SPSS Mode l, we verified that negatively valenced stimuli also lead to higher levels of arousal, which in turn restores the self-discrepancy caused by resource scarcity (H2). Study 2 (an online experiment, N = 182 (male 91, female 91), participants from China) manipulated the resource scarcity in a color sensory stimulant context, replicating the preliminary effect and examined the mediating effect of the self-worth by using the PROCESS SPSS Mode 4 (H3). Study 3 (an online experiment, N = 251 (male 125, female 126), participants from China) manipulated resource scarcity and self-acceptance in the tactile sensory experience, and tested the moderating effect of self-acceptance by using the PROCESS SPSS Mode 8 (H4).
RESULTS: Four studies suggest that not only do individuals facing resources scarcity prefer HISC but also that this consumption is mediated and moderated by self-worth and self-acceptance, respectively. This preference for HISC is negated when individuals have high self-acceptance traits. The findings are tested in the auditory domain (as evidenced by a propensity for louder volume), the visual domain (as evidenced by a propensity for more intense colors), and the tactile domain (as evidenced by a propensity for more intense need for touch). The findings also demonstrate that individual preferences for HISC is shown to operate regardless of the valence (positive valence vs. negative valence) of the sensory consumption.
CONCLUSIONS: Across four experiments, we find that individuals who are subjected to resource scarcity show a preference for high-intensity sensory consumption in the auditory, visual, and tactile domains. We also find that both negatively and positively valenced sensory stimuli have the same impact on resource-scarce individuals' preference for HISC. Furthermore, we demonstrate that the sense of self-worth significantly mediates the effect of resource scarcity on HISC. Finally, we reveal that self-acceptance moderates the effect of resource scarcity on HISC preference.
RESULTS: We used a combination of Illumina, Oxford Nanopore, and Hi-C sequencing technologies to assemble a chromosome-length genome of the helmeted honeyeater, comprising 906 scaffolds, with length of 1.1 Gb and scaffold N50 of 63.8 Mb. Annotation comprised 57,181 gene models. Using a pedigree of 257 birds and 53,111 single-nucleotide polymorphisms, we obtained high-density linkage and recombination maps for 25 autosomes and Z chromosome. The total sex-averaged linkage map was 1,347 cM long, with the male map being 6.7% longer than the female map. Recombination maps revealed sexually dimorphic recombination rates (overall higher in males), with average recombination rate of 1.8 cM/Mb. Comparative analyses revealed high synteny of the helmeted honeyeater genome with that of 3 passerine species (e.g., 32 Hi-C scaffolds mapped to 30 zebra finch autosomes and Z chromosome). The genome assembly and linkage map suggest that the helmeted honeyeater exhibits a fission of chromosome 1A into 2 chromosomes relative to zebra finch. PSMC analysis showed a ∼15-fold decline in effective population size to ∼60,000 from mid- to late Pleistocene.
CONCLUSIONS: The annotated chromosome-length genome and high-density linkage map provide rich resources for evolutionary studies and will be fundamental in guiding conservation efforts for the helmeted honeyeater.
METHODS: A retrospective study of all NPSLE patients seen at the Pediatric Rheumatology Unit, Selayang Hospital from January 2004 to May 2017.
RESULTS: Twenty-eight (19.8%) of 141 JSLE patients had NPSLE with a median presenting age of 10 years (IQR 9 - 12), median follow-up of 7 years (IQR 4 - 11) and female: male ratio of 3.7:1. Twenty-three patients had single episodes of NPSLE and five patients had two distinct episodes each. The mean disease activity score (SLEDAI- 2K) was 24.9±11.8 at presentation with 81.8% having high disease activity (score > 12). Majority (60.6%) present with NPSLE within the first year of SLE diagnosis whilst the remainder occurred at a median of five years (IQR 3-7) post-SLE diagnosis. Majority (75.8%) had central nervous system (CNS) involvement commonly presenting with seizures, delirium and visual complaints whilst 24.2% had peripheral nervous system (PNS) involvement. Frequent accompanying features included hypocomplementemia, acute cutaneous lupus and lupus nephritis. Autoantibodies were common; ANA (100%), anti-dsDNA (78.8%) anti-RNP (39.4%) and anti-Sm (39.4%). Abnormalities were seen in 85.7% of the magnetic resonance imaging (MRI) studies performed, predominantly supratentorial white matter hyperintensities on T2 images whilst cerebrospinal fluid examination was normal in the majority. All patients with CNS involvement received corticosteroids with immunosuppressive therapy: Cyclophosphamide (20), Rituximab (2). Treatment for PNS involvement included corticosteroids with Azathioprine (6) or Mycophenolate mofetil (2). At 12 months post-NPSLE, majority (85.7%) recovered without any neurological sequelae.
CONCLUSIONS: Juvenile-onset NPSLE presents with a myriad of clinical features. It is associated with high disease activity and non-specific MRI features. With early diagnosis and treatment, the majority had good prognosis.
MATERIAL AND METHODS: The study site is the village of Jyamire (located at an elevation between 900 to 1200 m) Syangja district. Individuals suffering from asthma residing in the village aged 18 years or above were included. Semi-structured interviews were conducted face-to-face with the respondents at their homes using an interview guide. The interviews were audio recorded, transcribed in the Nepali language, and then translated into English for further analysis.
RESULTS: Most participants were female, between 18 to 60 years of age, and housewives. Most houses were built of mud and poorly ventilated. Gas was used for cooking though firewood was also used. Most used to get an average of three serious attacks a year both during winter and summer. The themes that emerged were the number and seasonal variation in attacks, the perceived effect of asthma on their lives and social interactions, the knowledge of the interviewee about the disease, the impact of asthma on their socioeconomic status, and treatment and self-care behaviors. Residing in a hill village required them to walk up and down several times a day and the disease seriously impacted their lives. The smoke produced during different ceremonies and during cooking also worsened their asthma.
CONCLUSION: Findings suggest, the existence of multiple factors, a few unique to Nepal contributing to poor asthma control. Though the recent socioeconomic improvement has led to improved prevention and treatment options, asthma seriously affected the patients.
DESIGN: Retrospective cohort study.
SETTING: Tertiary referral hospital.
PATIENTS: A total of 1894 women underwent PRS for advanced pelvic organ prolapse (POP) stages 3 to 4 with urodynamic findings of BOO.
INTERVENTIONS: PRS.
MEASUREMENTS: The primary outcome measured was the resumption of normal voiding function, defined clinically with multichannel urodynamic testing at 1 year postoperatively. The secondary outcomes were to identify the different risk factors for persistence voiding dysfunction (VD) 1 year after PRS.
MAIN RESULTS: A total of 431 women with Pelvic Organ Prolapse Quantification stages 3 and 4, urodynamic study of maximum urinary flow rate ≤15 mL/s, and detrusor pressure at maximum flow ≥20 cm H2O were included. Resumption of normal voiding function was found in 91% (n = 392 of 431), whereas 9% (n = 39 of 431) remained to have VD 1 year postoperatively. Those with persistent VD, 20.5% (n = 8 of 39) remained having urodynamic diagnosis of BOO. Univariate and multivariate logistic regression revealed factors associated with postoperative VD were pre-operative maximal cystometric capacity ≥500 mL and postvoid residual volume ≥200 mL.
CONCLUSION: VD may persist in women with BOO after PRS, particularly in those with preoperative maximal cystometric capacity of >500 mL and postvoid residual volume >200 mL.