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

The coronavirus disease (COVID-19) pandemic has led to an alarming increase in domestic violence against women owing to lockdown measures and limited access to support services. This article provides insights into the global prevalence of domestic violence, barriers to seeking help, its impact on women and children, and the best practices implemented worldwide. Domestic violence encompasses various forms of abuse; many young women experience partner violence. Barriers to seeking help include fear, financial constraints, lack of awareness of available services, and distrust among stakeholders. The consequences of domestic violence affect the mental health of both mothers and children. Countries have increased shelter funding and developed innovative protocols to reach survivors and address this issue. However, the healthcare sector’s involvement in addressing domestic violence has been limited. This review advocates collaboration among healthcare institutions and government bodies. Key recommendations include utilizing telehealth services, implementing comprehensive training programs, establishing effective referral systems, enhancing health education, developing a domestic violence registry, improving the responses of law enforcement and justice systems through healthcare integration, promoting data sharing, and conducting further research. Healthcare systems should recognize domestic violence as a public health concern and detect, prevent, and intervene in cases to support survivors.

Hepatitis B (HB) is an upcoming health issue in Malaysia. Even though the Expanded Programme on Immunisation (EPI) for HB vaccination implemented by the Malaysia government in 1989, individuals born before 1989 were not covered under the EPI and should immunised against the HB virus. Examining the Malaysians’ perception of vaccination is very important in order to determine their behaviour regarding HB vaccination. Most of the studies only gave priority to analysing this issue from an occupational risk perspective, consumers’ perceptions of the HB vaccination are still lacking. This study is aimed at assessing the validity and reliability of the Malay version of the perception questionnaire used for Malaysian households. A pilot study involving 300 respondents was conducted in six districts in the Selangor area. Factor analysis constructed four components: perceived sustainability, perceived severity, perceived benefit and perceived barriers loaded on the corresponding component with factor loading of more than 0.5. Principal component analysis of the finalised 13 items explained the instrument of the variance, which was 59.7% in total, 20.3%, 14.5%, 12.5% and 12.4% explained by the four constructs. The Cronbach alpha for the items instruments is 0.5 to 0.8 which shows that moderate internal consistency exists and demonstrates reliability of the questionnaire. The frequency of the four constructs shows that most of the respondents worry about getting infected with HBV, the perceived severity level is high among respondents, they perceived benefit from getting an HB vaccination and perceived low barriers to getting the HB vaccination.