Multiple morphological abnormalities of the flagella (MMAF) represent a severe form of sperm defects leading to asthenozoospermia and male infertility. In this study, we identified a novel homozygous splicing mutation (c.871-4 ACA>A) in the adenylate kinase 7 (AK7) gene by whole-exome sequencing in infertile individuals. Spermatozoa from affected individuals exhibited typical MMAF characteristics, including coiled, bent, short, absent, and irregular flagella. Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella. Immunofluorescence staining confirmed the absence of AK7 protein from the patients' spermatozoa, validating the pathogenic nature of the mutation. This study provides direct evidence linking the AK7 gene to MMAF-associated asthenozoospermia in humans, expanding the mutational spectrum of AK7 and enhancing our understanding of the genetic basis of male infertility.
Humans ; Male ; Sperm Tail/ultrastructure* ; Homozygote ; Consanguinity ; Asthenozoospermia/pathology* ; Infertility, Male/genetics* ; Mutation ; Pakistan ; Adenylate Kinase/genetics* ; Adult ; Pedigree ; RNA Splicing ; Exome Sequencing ; Spermatozoa

Introduction: Early identification of patients at risk for severe multisystem inflammatory syndrome in children (MIS-C) is essential for favourable clinical outcomes. This study aims to identify the clinical characteristics, factors and outcomes associated with severe MIS-C. Materials and methods: In this retrospective cohort study involving 14 major hospitals in Malaysia, children <15 years who met the United States Centres for Disease Control and Prevention case definition for MIS-C were included. Severe MIS-C was defined as children who required inotropic support, ventilatory support (invasive or non-invasive ventilation), or left ventricular ejection fraction of <55%. The factors investigated for severe MIS-C were demographic characteristics, the presence of comorbidities, clinical characteristics, and laboratory measures. Multivariable logistic regression was used to compute the adjusted odds ratio (aORs) of factors associated with severe MIS-C. Results: Among the 155 patients, 91 (58.7%) presented with severe MIS-C. Severe MIS-C was more likely in patients aged ≥5 years old (aOR 2.13, 95% confidence interval [CI] 1.08-4.21), with dehydration (aOR 3.80, 95% CI 1.53-9.45), lethargy (aOR 2.02, 95% CI 0.97-4.18), tachycardia (aOR 8.33, 95% CI 3.27-21.22), albumin <30g/L (aOR 3.36, 95% CI 1.58-7.13), creatine kinase >200U/L (aOR 3.68, 95% CI 1.57-8.64), D-dimer >3.0µg/mL (aOR 2.11, 95% CI 1.08-4.13), ferritin >500ng/mL (aOR 3.77, 95% CI 1.88-7.55), prothrombin time >12.7 seconds (aOR 3.22, 95% CI 1.61-6.43), and urea >6mmol/L (aOR 5.09, 95% CI 2.04-12.71). Conclusion: Identification of these associated factors of severity in MIS-C could aid in early recognition and prompt escalation of care, leading to better outcomes.

Colorectal cancer (CRC) carries a significant burden in most world regions. However, its screening uptake remains low. This study aimed to explore awareness and perspectives on CRC screening program in a multiethnic population and their preference for CRC screening decision aid. In-depth interviews were conducted until data saturation was reached. All interviews were audiotaped, transcribed verbatim, translated to English and analysed thematically using hybrid inductive and deductive approaches. 17 informants from three main ethnic groups (Malay, Chinese and Indian) with various levels of risk for developing CRC were recruited. Awareness on CRC screening program was found to be low. Majority of informants never heard of CRC screening program. Among 11 eligible informants, only five experienced CRC screening uptake. Thematic analysis of the transcripts yielded six major themes; knowledge on CRC, screening process, authority’s role, curability, willingness to screening and preference for decision aid, and theywere mapped onto the Health Belief Model. Specific multiethnic perspectives found included preference for traditional medicine coming from all ethnics, and reliance in God coming from Malay informants. Majority preferred short videos as CRC screening decision aid, in the form of animation and live-action screenplay. Exploration of perspective of CRC screening helps in producing impactful decision aids. Future efforts should focus on developing short videos that incorporate population’s perspectives and can be disseminated through electronic media.

Introduction: COVID-19 pandemic placed unprecedented strain on hospital resources and manpower. This study assesses the impact of Malaysia’s nationwide lockdown on the incidence, types, severity, and outcomes of emergency general surgery (EGS) cases at a tertiary care hospital. Methods: This retrospective cohort study analysed the data of patients who underwent EGS procedures for the period 2017 and 2021. Results: During the pandemic period, there was a 48.3% reduction in EGS cases (n=889) compared to the pre-pandemic period (n=1720). Significant reductions were observed in surgeries for appendicitis, soft tissue infection, colorectal, urology, peptic ulcer, and vascular disorders in the COVID period. Conversely, procedures for biliary disorders and hernia complications increased by 7.4% and 5.5%, respectively. Length of hospital stay increased by 57.8% for patients with small bowel disorders, while ICU/HDU admissions rose by 43.5% for colorectal cases (P < 0.05). There was no significant difference in mortality rates between the two periods. Conclusions The overall reduction in EGS procedures during the COVID-19 period was consistent with global trends. Despite the challenges posed by the pandemic, the outcomes related to duration of stay, ICU/HDU utilisation, and mortality remained comparable to the pre-pandemic period. These findings highlight the adaptability of healthcare professionals in maintaining continuity and quality of emergency surgical care during a crisis.
Acute Care Surgery ; COVID-19 ; Pandemics

Accessibility to Oral Health Care Services and Oral Health-Related Quality of Life Among Children with Cerebral Palsy Children with cerebral palsy (CP) are highly dependent on their caregivers to access oral health care services (OHS), which leads to unmet oral health needs that affect their oral health-related quality of life (OHRQoL). This study explored accessibility to OHS and OHRQoL among children with CP attending Community-Based Rehabilitation (CBR) centres in Kelantan by their primary caregivers. A cross-sectional study using Accessibility to Oral Health Care Services (CP2OHS) and Parental-Caregiver Perception Questionnaire (P-CPQ) was conducted on 81 children with CP and their primary caregivers. CP2OHS domains are “ability to perceive”, “ability to engage”, “ability to seek”, “ability to pay”, and “ability to reach”, while PCPQ domains include oral symptoms, functional limitation, emotional wellbeing, and social well-being. Children with CP were mostly males (63.0%), with a mean (SD) age of 10.3 (3.93) years, Gross Motor Function Classification System (GMFCS) Level V (46.9%), and Communication Function Classification System (CFCS) Level III (33.3%). Their caregivers were mainly female (85.2%), aged 43.6 (9.34) years. The mean (SD) total score for CP2OHS was 29.67 (10.81) of –56 to 56 and P-CPQ was 13.21 (5.89) of 8 to 40. There was a significant difference in accessibility scores between tertiary, lower secondary, and primary levels of education (p = 0.009); village and city/ town residents (p = 0.013); and transportation with personal car and motorcycle (p = 0.004). The Pearson analysis revealed a weak positive correlation between accessibility and OHRQoL scores (r = 0.158, p = 0.16) that was not statistically significant. Children with CP posed high CP2OHS scores and low P-CPQ scores, indicating high accessibility to OHS and high OHRQoL. Strengthening OHS utilisation among these children is crucial for a better quality of life for them.

Severe hyponatraemia is defined as a sodium level of less than 120 mEq/L, and it is frequently accompanied by neurological symptoms like coma, convulsions, respiratory arrest, and death. Clinical cardiac toxicity from hyponatremia, such as bradyarrhythmia, is extremely rare. In this article, we present a case of acute severe hyponatraemia that induced unstable bradyarrhythmia and led to refractory bradycardia, which did not improve despite receiving treatment in accordance with the standard Advanced Cardiovascular Life Support protocol. The patient’s bradyarrhythmia has completely resolved with the administration of 3% hypertonic saline, which restored her sodium levels. Due to the possibility that severe hyponatremia may contribute to the aetiology of cardiac malfunction, this case raises awareness about the significance of closely monitoring electrocardiograms and telemetry in patients with severe hyponatremia.

Objectives: The coronavirus disease 2019 (COVID-19) pandemic continues to pose significant challenges to the public health sector, including that of the United Arab Emirates (UAE). The objective of this study was to assess the efficiency and accuracy of various deep-learning models in forecasting COVID-19 cases within the UAE, thereby aiding the nation’s public health authorities in informed decision-making. Methods: This study utilized a comprehensive dataset encompassing confirmed COVID-19 cases, demographic statistics, and socioeconomic indicators. Several advanced deep learning models, including long short-term memory (LSTM), bidirectional LSTM, convolutional neural network (CNN), CNN-LSTM, multilayer perceptron, and recurrent neural network (RNN) models, were trained and evaluated. Bayesian optimization was also implemented to fine-tune these models. Results: The evaluation framework revealed that each model exhibited different levels of predictive accuracy and precision. Specifically, the RNN model outperformed the other architectures even without optimization. Comprehensive predictive and perspective analytics were conducted to scrutinize the COVID-19 dataset. Conclusion This study transcends academic boundaries by offering critical insights that enable public health authorities in the UAE to deploy targeted data-driven interventions. The RNN model, which was identified as the most reliable and accurate for this specific context, can significantly influence public health decisions. Moreover, the broader implications of this research validate the capability of deep learning techniques in handling complex datasets, thus offering the transformative potential for predictive accuracy in the public health and healthcare sectors.

Methods: Patients with severe kyphoscoliosis having coronal Cobb angle >90° were applied with modified halo-pelvic Ilizarov distraction assembly preoperatively. The modified assembly consisted of a pelvic component and halo ring, and distraction was given at the rate of 2–3 mm/day for 6–12 weeks. Complete clinical assessments along with pulmonary function tests were performed, and scoliosis series X-ray images were assessed for coronal and sagittal Cobb angle and other spinopelvic parameters before applying the assembly and during 2 years of follow-up. Results: Thirty-four patients (age, 9–27 years; male/female ratio of 18:16) were included. The coronal and sagittal Cobb angles were 116°±16.2° and 84°±28.3°, respectively. Correction rates obtained through modified halo-pelvic assembly were nearly 52% (p=0.001) in coronal and 40% (p=0.001) in sagittal Cobb angles, with improvement in height (p=0.001). Apical vertebral translation and coronal balance were also improved significantly (p=0.001). Further improvements in all the parameters were obtained after definitive surgery, with improvements in the forced expiratory volume in 1 second (p =0.002) and forced vital capacity (p=0.001). Conclusions Our modified halo-pelvic Ilizarov distraction assembly can achieve good correction in severe spinal deformities without significant risk to neurology, has fewer complications, and promotes good patient compliance.

Evaluation of the Impact of Enhanced Primary Health Care Intervention Programme in Malaysia: A Repeat Cross-sectional Pre-Post Quasi Experimental Study Introduction Non-communicable diseases (NCD) lead to substantial mortality and morbidity worldwide. Malaysia is currently experiencing an epidemic of NCDs. This paper aims to evaluate the effectiveness of the Enhanced Primary Health Care (EnPHC) intervention in reducing the prevalence of undiagnosed diabetes, undiagnosed hypertension, and undiagnosed hypercholesterolemia as well as NCD risk factors in the population after about one year of intervention. Methodology This is a repeat cross-sectional pre-post quasi-experimental study comparing intervention and control groups. The target population included adults aged 30 years and above living within the 40 selected clinics' catchment areas for at least six months. Data were collected using face-to-face interviews and clinical assessments. A difference-in-difference (DID) analysis was used to determine the effect of the EnPHC intervention. Results The percentage of the population screened for diabetes mellitus, hypertension, and hypercholesterolemia increased from the baseline status by 8.7%, 9.9%, and 9.2%, respectively. The prevalence of undiagnosed diabetes mellitus and hypercholesterolemia decreased from the baseline status by 17.6% and 13.7% compared to the control group. However, the EnPHC intervention did not affect the prevalence of overweight, obesity and smoking. Conclusion The EnPHC intervention contributed to the reduction in the prevalence of undiagnosed NCDs. A more extended period of intervention would be required to show the effect on NCD risk factors. Further strengthening of the intervention would be needed for implementation in other localities