BACKGROUND: Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive genetic disorder associated with varied clinical manifestations, including oculocutaneous albinism, bleeding tendency, and systemic complications. Early and accurate diagnosis is crucial for medical interventions and genetic counseling. We aimed to characterize the prevalence and spectrum of pathogenic variants of HPS in the Chinese population through genetic screening of newborns.
METHODS: Genetic screening for HPS mutations was conducted in 29,622 Chinese newborns from 13 provinces using next-generation sequencing. Pathogenic variants were identified and classified according to ACMG guidelines. Prevalence rates were estimated, and potential hotspot variants were identified.
RESULTS: Among screened newborns, 215 carriers with 103 distinct pathogenic variants were identified, including two carriers with additional missense variants. Potential hotspot variants in seven genes were identified, collectively representing over 20 % of carriers in each respective gene. Particularly, the HPS3 c.1838C>G variant was exclusively reported in the Chinese population, suggesting a potential founder effect. The estimated prevalence rate of HPS in China was 2.84/1,000,000.
CONCLUSIONS: Our study provides valuable insights into the genetic landscape of HPS in the Chinese population, aiding in genetic counseling, early diagnosis, and management strategies. These findings contribute to enhancing the understanding and management of HPS in China.

Few studies have examined the prevalence of mental illness in young people over time within the same jurisdiction. In the current study, we compared data from three large surveys of youth in custody in New South Wales, conducted in 2003, 2009 and 2015. We examined rates of mental illness, self-harm and suicidal behaviours, substance use and childhood trauma and found little consistent change over time, though some fluctuations were observed regarding certain mental illnesses and substance use. We also descriptively compared findings with observed rates for the general population and found that young people in custody showed higher levels of all examined variables. In sum, these data suggest little improvement in the well-being of young people in custody in New South Wales over time. Better identification and treatment of these issues are vital if young people are to be prevented from becoming enmeshed in the criminal justice system.

For low prevalence disease, we consider estimation of the odds ratio for two specified groups of individuals using group testing data. Broadly the two groups may be classified as \"the exposed\" and \"the unexposed.\" Often in observational studies, the exposure status is not correctly recorded. In addition, diagnostic tests are rarely completely accurate. The proposed model accounts for imperfect sensitivity and specificity of diagnostic tests along with the misclassification in the exposure status. For model identifiability, we make use of internal validation data, where a subsample of reasonably small size is selected from the original sample by simple random sampling without replacement. Pseudo-maximum likelihood method is employed for the estimation of the model parameters. The performance of group testing methodology is compared with individual testing for different parametric configurations. A limited data study related to COVID-19 prevalence is performed to illustrate the methodology.

In the general population, prevalence rates of cyberbullying victimization have continuously increased over the past decades. However, the extent to which these increasing numbers affect clinical populations seeking treatment in outpatient services remains an open question. The present study sought to examine whether the increase of cyberbullying victimization is also reflected by increased reports of cyberbullying victimization in a clinical outpatient population. In addition, we assessed the incremental contribution of experiences of cyberbullying in the prediction of psychological symptoms when controlling for histories of childhood maltreatment and offline peer victimization. For this purpose, we analyzed routine data from N = 827 outpatients who had sought treatment at a University outpatient clinic for psychotherapy between 2012 and 2021 in a cross-sectional study design. Analyses showed that 8.3% of the patients born in the years 1980 to 2002 indicated the experience of cyberbullying victimization in their adolescence. The rate of reported cyberbullying victimization increased from 1 to 3% in patients born in the years 1980 to 1987 to 24% in patients born in the year 2000. A logistic regression revealed that patients born in the years 1995-2002 were up to nineteen times as likely to report cyberbullying victimization as patients born in the years 1980-1982. In addition, hierarchical multiple regression analyses indicated that cyberbullying victimization significantly accounted for an incremental proportion of variance (1%) in the prediction of psychological symptom distress after controlling for child maltreatment and offline peer victimization. In conclusion, this retrospective survey indicates an increase of the clinical relevance of cyberbullying victimization both in frequency of and potential contribution to etiology. Raising attention to cyberbullying in clinical care and research seems to be justified and warranted.

The Gulf Cooperation Council (GCC), locally known as Khaliji, is a group of six Arab nations, including Saudi Arabia, Bahrain, Kuwait, Oman, Qatar, and the United Arab Emirates (UAE). Intimate partner violence (IPV) is a significant public health concern in the aforementioned region, but research that synthesises this trend has remained scarce. The present narrative review examines existing research on the prevalence and frequency of IPV among Khaliji women who inhabit the GCC nations. This review synthesised studies on physical and sexual violence, emotional abuse, and controlling behaviours perpetrated by an intimate partner. The prevalence rates of IPV among Khaliji women were observed to be high: women reported facing different types of abuse from their partners, namely physical (7-71%), sexual (3.7-81%), financial (21.3-26%), and psychological (7.5-89%), which is a culmination of controlling behaviour (36.8%), emotional violence (22-69%), and social violence (34%). Existing studies in the GCC region suggest that the most endorsed IPV was psychological abuse (89%), followed by sexual violence (81%). Qualitative analysis of the content of associated factors resulted in four significant descriptors, such as victim demographics, sociocultural factors, socioeconomic factors, and perpetrator-related issues. Research on IPV is still in its nascent stages, with very few studies emanating from the GCC region. The way forward will require developing culturally appropriate interventions that address the unique risk factors for IPV among the Khaliji population, strengthening institutional responses, and increasing awareness and social support for victims of IPV.

Predrinking and drinking games (DGs) are common risky drinking practices among adolescents and young adults in many different countries around the world. However, most studies on these behaviors have been conducted with university student samples in a limited number of countries. Despite the risks of negative alcohol-related consequences associated with predrinking and DGs, these activities are quite prevalent among young people. In this prologue, we provide definitions for predrinking and DGs and an extensive overview of the known prevalence rates of predrinking and DGs among young people around the world. This special issue addresses known gaps in the literature by including articles which (a) use differing methodologies to examine predrinking or DGs behavior, (b) consider psychosocial and contextual factors that influence these behaviors, and (c) examine young people\'s perceptions of alcohol policies and interventions. Taken together this Special Issue offers an international view on how and why young people around the world engage in these risky drinking practices, and potential ways to address these behaviors.

Considerable concern is raised as to whether the pandemic has led to an increase in violence and sexual abuse against children.
The present study objective is to provide rates of violence and sexual abuse against adolescents the year before the pandemic compared to one year into the pandemic.
Two samples of Norwegian 12-16-year-olds were approached. A representative pre-pandemic sample of 9240 adolescents (M age (SD) = 14.11(0.88), and a sample recruited one year into the pandemic resulting in 3540 responses (M age (SD) = 14.5 (0.96)).
An online survey was administered during school hours including established measures of violence and sexual abuse exposure. Sociodemographic characteristics were assessed.
There was 1.4 percentage point increase in sexual abuse by an adult, and a 3.9 percentage point decrease in psychological violence by a parent during the pandemic compared to the year before the pandemic. Otherwise, violence and sexual abuse rates remained stable across these two time periods. Risk factors for violence and sexual abuse were amplified during the pandemic.
Norway, a high-income welfare state, imposed measures to counteract the burden of the pandemic mitigation actions for adolescents. This might partly explain the absence of the feared increase in violence towards adolescents. The disproportionate risk for violence and sexual abuse for some groups of adolescents is however concerning, and should be followed up over time.

The COVID-19 pandemic has disrupted sexual health services among those most vulnerable to HIV acquisition, such as adolescent men who have sex with men (AMSM). We sought to characterize the changes in sexual-risk behaviors, HIV and other STI testing, and pre-exposure prophylaxis (PrEP) use among a longitudinal cohort of AMSM aged 13 to 18 years before and during the COVID-19 pandemic. We observed a significant decline in HIV testing and a marginal decrease in other STI testing since the pandemic began in March 2020. Outreach efforts and innovative remote delivery of sexual health services are needed to support access to healthcare services among AMSM as the pandemic persists.
RESULTS: La pandemia de COVID-19 ha afectado la prestación de servicios de salud sexual para los más vulnerables, tales como los hombres adolescentes que tienen relaciones sexuales con hombres (AMSM; por sus siglas en ingles). En una cohorte longitudinal de AMSM de 13 a 18 años, examinamos los cambios en comportamientos sexuales de alto riesgo, la prueba de VIH, las pruebas de otras enfermedades de transmisión sexual, y el uso de Profilaxis Preexposición (PrEP) para el VIH antes y durante la pandemia. Desde el inicio de la pandemia en marzo de 2020, observamos una disminución significativa en la frecuencia de pruebas de VIH y una disminución marginal en la frecuencia de pruebas de otras enfermedades de transmisión sexual. Mientras persista la pandemia, serán necesarios más esfuerzos de divulgación e innovaciones en la prestación remota de servicios de salud sexual para apoyar el acceso a dichos servicios por parte de AMSM.

The current study aims to identify the level and proportions of smartphone addiction, and academic procrastination among university students in the light of the Corona pandemic; identify the differences in smartphone addiction, academic procrastination, and quality of life according to gender and stage of study; and revealing the predictive ability of academic procrastination and quality of life for smartphone addiction. Methods: 556 male and female students from Saudi universities participated in the study, whose ages ranged from 18 to 52 years. Measures of academic procrastination and quality of life were used, in addition to the Italian scale of smartphone addiction, which was translated and checked for validity and reliability. Results: The results revealed that 37.4% of the sample were addicted to smartphone use, while 7.7% had a high level of procrastination, and 62.8% had an average level of procrastination. The results did not show statistically significant differences in smartphone addiction and quality of life according to gender and educational stage, while there were statistically significant differences in academic procrastination according to gender in favor of males, and according to stage of education in favor of undergraduate students. The results also revealed a statistically significant positive relationship between academic procrastination and smartphone addiction, and a statistically significant negative relationship between smartphone addiction and quality of life. A negative relationship between quality of life and academic procrastination was found. The results also revealed that addiction to smartphones could be predicted through academic procrastination and quality of life.

OBJECTIVE: To determine prevalence rates of non-partner and partner violence (IPV) in men and women from a population-based study.
METHODS: We recruited 2,887 randomly selected respondents (1,464 women and 1,423 men) from three regions of New Zealand between 2017 and 2019. Face-to-face interviews using a questionnaire adapted from the WHO multi-country study on violence against women was used for data collection.
RESULTS: Physical violence by non-partners was most commonly experienced by men (39.9% lifetime exposure) compared with 11.9% of women. More women (8.2%) experienced lifetime non-partner sexual violence compared with men (2.2%). About 29% of men and women reported at least one act of physical-IPV in their lifetime, and about 12.4% of women and 2.1% of men reported at least one act of lifetime sexual IPV. More women than men reported serious injuries, fear, and physical and mental health impacts following IPV experience.
CONCLUSIONS: These findings indicate high prevalence of interpersonal violence exposure in the population, with marked gender differences in the types and impacts of violence reported.
CONCLUSIONS: Study results call for the urgent implementation of violence prevention programs, and funding for both services to rehabilitate people who have perpetrated violence and services to support recovery of those affected.