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BackgroundObesity is a chronic, multifactorial, and relapsing disease, affecting people of all ages worldwide, and is directly related to multiple complications. Understanding public attitudes and perceptions toward obesity is essential for developing effective health policies, prevention strategies, and treatment approaches. ObjectiveThis study investigated the sentiments of the general public, celebrities, and important organizations regarding obesity using social media data, specifically from Twitter (subsequently rebranded as X). MethodsThe study analyzes a dataset of 53,414 tweets related to obesity posted on Twitter during the COVID-19 pandemic, from April 2019 to December 2022. Sentiment analysis was performed using the XLM-RoBERTa-base model, and topic modeling was conducted using the BERTopic library. ResultsThe analysis revealed that tweets regarding obesity were predominantly negative. Spikes in Twitter activity correlated with significant political events, such as the exchange of obesity-related comments between US politicians and criticism of the United Kingdom’s obesity campaign. Topic modeling identified 243 clusters representing various obesity-related topics, such as childhood obesity; the US President’s obesity struggle; COVID-19 vaccinations; the UK government’s obesity campaign; body shaming; racism and high obesity rates among Black American people; smoking, substance abuse, and alcohol consumption among people with obesity; environmental risk factors; and surgical treatments. ConclusionsTwitter serves as a valuable source for understanding obesity-related sentiments and attitudes among the public, celebrities, and influential organizations. Sentiments regarding obesity were predominantly negative. Negative portrayals of obesity by influential politicians and celebrities were shown to contribute to negative public sentiments, which can have adverse effects on public health. It is essential for public figures to be mindful of their impact on public opinion and the potential consequences of their statements.

Abstract Objective Pregnancy is a complex phenomenon accompanied by biological, physiological and psychosocial changes for a mother. It is also regarded as a stressful life event where a woman’s role, identity and interpersonal relationships are restructured. The present study from Pakistan explores the association of sleep quality and poor sleeping habits with prenatal stress using Pittsburgh Sleep quality Index. Results There were a total of 516 women (mean age = 29.82 years), with more than half reporting poor sleep quality. Ethnically, a majority (395, 76.6%) were natives of the Punjab province while rest were non-natives. A high percentage of respondents reported poor subjective sleep quality (22.1%), sleep latency (44.1%), habitual sleep efficiency (27.5%), sleep disturbance (30.1%), use of medications (7.1%) and daytime dysfunction (29.5%). According to logistic regression analysis, respondents with poor sleep quality were 2.24 (95% CI = 1.55–3.22, P

ObjectiveThis study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs).MethodsWe conducted clinical, genetic, biochemical, and molecular analyses on 30 consanguineous families with NDDs enrolled from various regions of Pakistan. The likely molecular causes of primary microcephaly and NDDs were identified. Detailed clinical investigations and molecular diagnoses were performed using whole exome sequencing (WES) of the proband, followed by Sanger sequencing for validation and segregation in the available family members of the affected families.ResultsWES identified likely disease-causing homozygous variants in 30 unrelated consanguineous families. Six families presented newly described variants in known NDD-related genes: ABAT (c.1439 T > G; p.Phe480Cys) [OMIM613163], SLC12A6 (c.2865_2865insT; p.Glu955Asnfs*5) [OMIM 218000], SHANK3 (c.1305-3_1,305-2delTT; p.Gln29-_Gly305del) [OMIM 606232], BCKDK (c.356_356insC; p.Gly119Alafs*24) [OMIM 614923], DDHD2 (c.2065G > T; p.Asp689Tyr) [OMIM 615033], ERCC2 (c.1255G > A; p.Glu419Lys) [OMIM 610756]. Additionally, 12 families had previously reported disease-causing variants associated with different types of NDDs: ATRX (c.109C > T; p.Arg37*) [OMIM 309580], GPR56 [ADGRG1] (c.1423C > T; p.Arg475*) [OMIM 606854], NAGLU (c.1694G > A; p.Arg565Gln) [OMIM 252920], DOLK (c.3G > A; p.Met1Ile) [OMIM 610768], GPT2 (c.815C > T; p.Ser272Leu) [OMIM 616281], DYNC1I2 (c.607 + 1G > A; p.?) [OMIM 618492], FBXL3 (c.885delT; p.Leu295Phefs25*) [OMIM 606220], LINGO1 (c.869G > A; p.Arg290His) [OMIM 618103], and ASPM (c.3978G > A; Trp1326*, c.9557C > G; p.Ser3186*, c.6994C > T; p.Arg2332*) [OMIM 608716]. All the identified variants showed segregation compatible with autosomal recessive inheritance.ConclusionIn the present study, we observed a high frequency of ASPM variants in the genetic analysis of 30 consanguineous families exhibiting features of NDDs, particularly those associated with autosomal recessive primary microcephaly. These findings contribute to studies on genotype–phenotype correlation, genetic counseling for families, and a deeper understanding of human brain function and development.

Aims Therapeutic Patient Education (TPE) aims to help patients self-manage their chronic condition over their lifetime, adapting to their evolving circumstances, as well as changes in their condition and treatment. The National Institute for Clinical and Healthcare Excellence underscores the importance of patient education as a crucial part of early interventions for mental disorders. This systematic review aimed to review TPE programmes in managing psychiatric disorders, considering the diversity in delivering agents, intervention formats, targeted skills, and therapeutic outcomes. Methods Comprehensive database searches, including Web of Science, PubMed, and COCHRANE, were conducted from September 2019 to January 2023, yielding 514 unique records, with 33 making it through rigorous evaluation for full-text review. Eleven studies met the inclusion criteria, focusing on various psychiatric disorders such as depression, bipolar disorder, psychosis, and multiple serious mental illnesses. A total of 38 studies were included from our previous review to supplement the current database search. Results Among 49 included interventions, 13 were aimed at bipolar disorder, depression (n = 12), multiple serious mental illnesses and comorbidities (n = 11), schizophrenia and psychoses (n = 13). A total of 21 interventions were delivered in groups followed by individual (n = 12), mixed format (n = 14) and electronically (n = 2). TPE programmes exhibited diversity in delivering agents and intervention formats, with a notable presence of multidisciplinary teams and various professionals. The interventions prioritized coping strategies and disease management techniques, though the extent varied based on the disorder. Examining the different skills imparted during the interventions, the focus predominantly leaned towards the teaching of coping strategies. These encompassed both cognitive and behavioural coping skills, including areas such as self-confidence (n = 37), stress management (n = 39), critical thinking (n = 26), problem-solving (n = 18), goal setting (n = 31), situational awareness (n = 36), and self-care (n = 36), with unspecified coping skills also noted (n = 32). Effectiveness was heterogeneous across studies; some interventions showed significant benefits in areas such as symptom management, coping, and functional improvement, while others reported no significant outcomes. Conclusion The findings underscore the potential of TPE in psychiatric care, revealing its multifaceted nature and varied impact. TPE not only addresses deficits but also leverages patients' existing strengths and capabilities. Despite the reported benefits, a portion of the interventions lacked statistical significance, indicating the necessity for continuous refinement and evaluation.

Aims Depression poses a significant public health concern globally, characterized by prolonged periods of sadness, loss of interest, and impairment in daily functioning. With over 800,000 annual deaths attributed to suicide, it stands as the second leading cause of mortality among 15–29-year-olds worldwide. To address this growing crisis, various digital methods are being increasingly developed for screening depression efficiently in large populations. However, the ethical implications surrounding the use of these tools remain debated. This scoping review aims to explore the landscape of research on digital screening methods for depression in India, elucidating ethical challenges and identifying research gaps. By synthesizing available evidence, this study seeks to contribute to the discourse surrounding the ethical use of digital tools for depression screening in India, ultimately striving for improved mental health outcomes in the population. Methods Using a pre-tested search strategy in January 2024, we searched PubMed and Google Scholar for studies regarding digital divide in the use of digital technology for mental health. Relevant studies were selected using a two phased screening process. Studies included in the review were synthesised qualitatively using a thematic synthesis approach. Results Out of 379 titles identified in our database search, only four were included in the qualitative synthesis. Two of these were cross-sectional, followed by a qualitative study and a pre-post evaluation. These studies were conducted in remote villages in the state of Andhra Pradesh, urban slums of Delhi, pan-Indian national survey and rural and under resourced urban areas. The studies examined diverse aspects of the digital divide in India, revealing profound socio-economic disparities and gender inequities. Disparities in ownership of digital devices and usage were stark, with less educated, lower-income, and lower-caste groups facing marginalization due to limited access and skills. There were gender discrepancies in mobile phone ownership and internet access, with females significantly less likely to possess these technologies compared with males. However, there is a strong potential of mobile technology in increasing mental health service utilization in rural areas, fostering community awareness and stigma reduction. Conclusion Collectively, these findings illuminate the multifaceted challenges of the digital divide in India, emphasizing the urgent need for targeted interventions to promote equitable access to technology and bridge socio-economic gaps.

Objective: To determine the efficacy of fixing chest tube to chest wall from both sides versus single side fixation with silk one suture. Study Design: Comparative cross sectional study. Place and Duration of Study: Combined Military Hospital, Kharian Pakistan, from Mar 2021 to Jan 2022. Methodology: Two hundered Patients undergoing chest intubation at CMH Kharian and referred from peripheral hospitals were considered in the study and divided into two groups. In our setup (Group-A), chest tubes were fixed with a chest wall with silk breaded sutures from both sides, compared to patients referred from peripheral hospitals (Group-B), who had chest tubes fixed to the chest on a single side. They were analyzed for system leakage at the chest wall, to and fro movements of the chest tube and accidental dislodgement. Results: Unilateral chest intubation was done in 193(96.5%). Right sided intubations were 112(56%) and 81(40.5%) were left sided. Most chest intubations done were either blunt or penetrating thoracic trauma 52(26%), early empyema thoracis 50(25%), primary pneumothorax 30(15%), indeterminate pleural effusion 28(14%), secondary pneumothorax 24(12%) and malignant pleural effusion 16(08%). System leakage was 2(02%) in group A to 13(13%).No chest tube was moved to and fro in Group-A and 12(12%) in Group-B. In Group-A, accidental dislodgement was 3(03%), and 6(06%) patients had such complication in Group-B. Conclusion: Chest tube fixation with chest wall with silk one breaded suture gives better support to the chest tube from all sides and minimizes the chances of system leakage, to-and-fro moveme

Abstract Perinatal depression (PND) is a significant contributor to maternal morbidity globally. Recognized as a major cause of poor infant development, epidemiological and interventional research on it has increased over the last decade. Recently, studies have pointed out that PND is a heterogeneous condition, with variability in its phenotypes, rather than a homogenous latent entity and a concrete diagnosis, as previously conceptualized in psychometric literature and diagnostic systems. Therefore, it is pertinent that researchers recognize this to progress in elucidating its aetiology and developing efficacious interventions. This systematic review is conducted in accordance with the Meta-analysis of observational studies in epidemiology (MOOSE). It aims to provide an updated and comprehensive account of research on heterogeneity in phenotypes of PND and its implications in research, public health, and clinical practice. It provides a synthesis and quality assessment of studies reporting heterogeneity in PND using cutting-edge statistical techniques and machine learning algorithms. After reporting the phenotypes of PND, based on heterogeneous trajectories and symptom profiles, it also elucidates the risk factors associated with severe forms of PND, followed by robust evidence for adverse child outcomes. Furthermore, recommendations are made to improve public health and clinical practice in screening, diagnosis, and treatment of PND.

Abstract Background The lack of trained mental health professionals is a key barrier to scale-up of evidence-based psychological interventions in low and middle-income countries. We have developed an app that allows a peer with no prior experience of health-care delivery to deliver the cognitive therapy-based intervention for perinatal depression, the Thinking Healthy Programme (THP). This trial aims to assess the effectiveness and cost-effectiveness of this Technology-assisted peer-delivered THP versus standard face-to-face Thinking Healthy Programme delivered by trained health workers. Methods We will employ a non-inferiority stratified cluster randomized controlled trial design comparing the two formats of intervention delivery. A total of 980 women in the second or third trimester of pregnancy with a diagnosis of Major Depressive Episode, evaluated with the Structured Clinical Interview for DSM-V Disorders (SCID), will be recruited into the trial. The unit of randomization will be 70 village clusters randomly allocated in a 1:1 ratio to the intervention and control arms. The primary outcome is defined as remission from major depressive episode at 3 months postnatal measured with the SCID. Data will also be collected on symptoms of anxiety, disability, quality of life, service use and costs, and infant-related outcomes such as exclusive breastfeeding and immunization rates. Data will be collected on the primary outcome and selected secondary outcomes (depression and anxiety scores, exclusive breastfeeding) at 6 months postnatal to evaluate if the improvements are sustained in the longer-term. We are especially interested in sustained improvement (recovery) from major depressive episode. Discussion This trial will evaluate the effectiveness and cost-effectiveness of a technology-assisted peer-delivered cognitive behavioral therapy-based intervention in rural Pakistan. If shown to be effective, the novel delivery format could play a role in reducing the treatment gap for perinatal depression and other common mental disorders in LMIC. Trial registration The trial was registered at Clinicaltrials.gov (NCT05353491) on 29 April 2022.

The Thinking Healthy Program (THP) is a multicomponent low-intensity cognitive behavioral therapy-based psychosocial intervention. This intervention has been shown to be clinically effective in perinatal depression (PND) and feasible for implementation in low-resourced settings. It has also been shown to work universally for different phenotypes of PND. However, the mechanism through which THP resolves different phenotypes of PND are unclear. The present investigation presents secondary mediation analyses of a dataset curated from a cluster randomized controlled trial conducted in Pakistan assessing the effectiveness of the THP. Women aged 16–45 years in their third pregnancy trimester, with a diagnosis of PND, underwent 16 sessions of the intervention. The severity of depression was assessed using the Hamilton Depression Rating Scale (HDRS). 2-1-1 mediation models revealed that social support exerted significant mediation in driving the intervention effects for improving the severity of depressive symptoms on the HDRS [B (SE) = 0.45 (0.09), 95% CI: 0.30–0.60] and its symptom dimensions of core emotional symptoms [B (SE) = 0.27 (0.06), 95% CI: 0.18–0.37], somatic symptoms [B (SE) = 0.24 (0.04), 95% CI: 0.16–0.31] and insomnia symptoms [B (SE) = 0.04 (0.02), 95% CI: 0.02–0.07].

Abstract Objective This systematic review aimed to review therapeutic patient education (TPE) programmes in managing psychiatric disorders, considering the diversity in delivering agents, intervention formats, targeted skills, and therapeutic outcomes. Methods Comprehensive database searches, including Web of Science, PubMed, and COCHRANE, were conducted from September 2019 to January 2023, yielding 514 unique records, with 33 making it through rigorous evaluation for full-text review. Eleven studies met the inclusion criteria, focusing on various psychiatric disorders such as depression, bipolar disorder, psychosis, and multiple serious mental illnesses. A total of 38 studies were included from our previous review to supplement the current database search. Results TPE programmes exhibited diversity in delivering agents and intervention formats, with a notable presence of multidisciplinary teams and various professionals. The interventions prioritized coping strategies and disease management techniques, though the extent varied based on the disorder. Effectiveness was heterogeneous across studies; some interventions showed significant benefits in areas such as symptom management, coping, and functional improvement, while others reported no significant outcomes. Conclusion The findings underscore the potential of TPE in psychiatric care, revealing its multifaceted nature and varied impact. TPE not only addresses deficits but also leverages patients’ existing strengths and capabilities. Despite the reported benefits, a portion of the interventions lacked statistical significance, indicating the necessity for continuous refinement and evaluation.

Background: Glycosylphosphatidylinositol (GPI) is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment. Inherited GPI deficiencies have various phenotypic chrematistics, which range from intellectual disability to dysmorphic features, epilepsy, and other severe anomalies. Methods: Molecular diagnosis was performed using whole exome sequencing (WES) followed by Sanger sequencing. Results: WES revealed a novel homozygous nonsense variant (c.250C>T; p.Gln84Ter) in the exon 2 of the phosphatidylinositol glycan anchor biosynthesis class Ogene that might explain the disease phenotype in the patient. Conclusion: This study will help in proper genetic counselling of the family and help in genotype-phenotype correlation in the future. [JBCGenetics 2023; 6(1.000): 22-28]

Objective: The object of this research is to identify growth and geographical distribution of research in the field of perinatal mental health and key research areas. Materials and Methods: We performed a bibliometric analysis on research documents on perinatal mental health from 1900 to 2020. Web of Science was used to download bibliometric data. Search strategy used generic index terms with specific free text searches using ?AND? as Boolean function. For example, psycho AND perinatal. Microsoft Excel was used to identify research growth, geographical and research institutes contribution to research in the field. Citation analysis was done using VOSviewer. Results: A total of 11,081 articles were extracted. The most cited research was by Cox et al., which introduced Edinburgh Postnatal Depression Scale. There was exponential increase in the research documents from 1990 to 2020. However, most of the research was contributed by the global north. Among emerging countries, India, South Africa, and Brazil did not contribute in the perinatal research. Postnatal depression and its risk factors were most studied themes. Paternal perinatal mental health and impact on mental health of children were understudied themes. Conclusion: Perinatal mental health research outpaced growth in biomedical research in the past 30 years. The work of leading researcher in the field was initially inspired by his experience in Uganda encountering postnatal depression. However, even after half a century, there is still less contribution from developing countries. This analysis highlights research and possibly access to services inequities in developing countries.

Abstract In low-income settings, ninety percent of individuals with clinical depression have no access to evidence-based psychological interventions. Reasons include lack of funds for specialist services, scarcity of trained mental health professionals, and the stigma attached to mental illness. In recent years there have been many studies demonstrating effective delivery of psychological interventions through a variety of non-specialists. While these interventions are cost-effective and less stigmatising, efforts to scale-up are hampered by issues of quality-control, and what has been described by implementation scientists as ‘voltage-drop’ and ‘programme-drift.’ Using principles of Human Centred Design in a rural setting in Pakistan, we worked with potential users to co-design a Tablet or Smartphone-based App that can assist a lay-person deliver the Thinking Healthy Programme, a World Health Organization-endorsed evidence-based intervention for perinatal depression. The active ingredients of this cognitive-therapy based intervention are delivered by a virtual ‘avatar’ therapist incorporated into the App which is operated by a ‘peer’ (a woman from the neighbourhood with no prior experience of healthcare delivery). Using automated cues from the App, the peer reinforces key therapeutic messages, helps with problem-solving and provides the non-specific but essential therapeutic elements of empathy and support. The peer and App therefore act as co-therapists in delivery of the intervention. The peer can deliver the intervention with good fidelity after brief automated in-built training. This approach has the potential to be applied to other areas of mental health and help bridge the treatment gap, especially in resource-poor settings. This paper describes the process of co-development with end-users and key features of the App.

Abstract Background Adolescent depression and anxiety are among the leading contributors to health burden worldwide. ‘Relaxation Techniques (RTs)’ are a “set of strategies to improve physiological response to stress” and are frequently cited as an active ingredient of trans-diagnostic, psychosocial interventions for scaling-up care for preventing and treating these conditions in adolescents. However, there is a little evidence on the effectiveness of ‘relaxation techniques’ for this age group. Aim As a part of the Wellcome Trust’s Active Ingredients commission, we did a systematic review and meta-analysis to evaluate the effectiveness of RTs to reduce the symptoms of distress, anxiety and depression in young people, aged 14 to 24 years old, globally. Methods We searched 10 academic databases to include 65 Randomized Controlled Trials (RCTs) of relaxation-based interventions for young people with the symptoms of anxiety and depression. Primary outcomes were reduction in symptoms of distress, anxiety and/or depression. We employed the Cochrane risk of bias tool and GRADE (Grading of Recommendations, Assessment, Development and Evaluations) guidelines to assess certainty of outcomes pertaining to anxiety, depression and distress. Standardized mean difference was estimated using effect size. Results The analysis of 65 RCTs with 8009 young people showed that RTs were highly effective in treating anxiety (pooled effect size of (Standardized Mean Difference-SMD) − 0.54 (95% CI − 0.69 to − 0.40); moderately effective in reducing distress (SMD = − 0.48, 95% CI − 0.71 to − 0.24) and had only a weak effect on improving depression in young people (SMD = − 0.28 (95% CI − 0.40% to − 0.15). Face-to-face delivered relaxation techniques yielded higher effect size (SMD = − 0.47, 95% CI − 0.64 to − 0.30) compared to online delivery (SMD = − 0.22, 95% CI − 0.48 to 0.04) for anxiety. Conclusion Most of the included studies were from High Income Countries (HICs) and had a high risk of bias. Further high-quality studies with low risk of bias, especially from low resource settings are needed to evaluate the evidence for effectiveness of RTs as an active ingredient of psychological interventions to reduce the symptoms of distress, anxiety and depression in young people.

Perinatal depression and anxiety account for a high burden of perinatal morbidity and poor psychosocial functioning. There is a growing interest among mental health professionals, to devise interventions to prevent this condition. This review synthesizes evidence for the effectiveness of psychological and psychosocial interventions aimed at the prevention of perinatal depression and anxiety. We also explore qualitative evidence to understand the acceptability and feasibility of these interventions. Using a mixed-methods approach, data from a total of 21 studies were collated to inform the evidence for preventive interventions for perinatal depression and anxiety. Based on their theoretical orientations, these interventions were described by authors as cognitive-behavioral (n = 7); psychoeducational (n = 6); mindfulness (n = 2); and interpersonal psychotherapy (n = 2). These also included psychosocial approaches such as social support (n = 1) and multicomponent interventions (n = 3). For depressive symptoms, these interventions yielded moderate to strong effect sizes in favor of the intervention group [standardized mean difference (SMD) = −0.59; 95% confidence interval (CI) −0.95 to −0.23]. For anxiety symptoms, a strong effect size was estimated in favor of the intervention group (SMD = −1.43, 95% CI −2.22 to −0.65). Preventive interventions significantly reduce the severity of perinatal depressive and anxiety symptoms. These interventions are also acceptable and feasible in many settings.

Abstract Postpartum depression and anxiety are highly prevalent worldwide. Fisher et al., estimated the prevalence of depression and anxiety at 15.6% during the antenatal and 19.8% during the postpartum period. Their impact on maternal and child health is well-recognized among the public health community, accounting for high societal costs. The public health impact of these conditions has highlighted the need to focus on the development and provision of effective prevention and treatment strategies. In recent decades, some advances have been made in the development of effective universal and targeted screening programmes for perinatal depression and anxiety disorders. Recent research has shown potential benefits of universal and targeted screening for perinatal depression, to identify and treat undiagnosed cases, and help thwart its deleterious consequences. Ethical implications, however, for these screening programmes, without the provision of treatment have often been emphasized. The present mixed-methods systematic review and meta-analysis was conducted to collate evidence for screening programmes for perinatal depression and anxiety. It aims to answer the following questions, in a global context: For women in the perinatal period, do screening programmes for perinatal depression and anxiety compared with no screening improve maternal mental health and infant outcomes? A series of meta-analyses reveal a reduction in perinatal depression and anxiety among perinatal women undergoing screening programmes. For the outcome of depressive disorder, meta-analysis indicates a positive impact in favour of the intervention group (OR = 0.55, 95% CI: 0.45 to 0.66, n = 9009), with moderate quality of evidence. A significant improvement (high quality) was also observed in symptoms of anxiety among perinatal women (SMD = − 0.18, 95% CI: − 0.25 to − 0.12, n = 3654).

Cystic fibrosis (CF) is one of the most common recessive genetic diseases, with a wide spectrum of phenotypes, ranging from infertility to severe pulmonary disease. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are considered the main genetic cause for CF. In this study, we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens (CUAVD), and one female patient diagnosed with congenital absence of the uterus (CAU). Testicular biopsy of one patient was performed, and hematoxylin and eosin (H and E) staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids, indicating obstructive azoospermia. To explore the underlying genetic factor in this familial disorder, we therefore performed whole-exome sequencing (WES) on all available family members. WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients (two CUAVD patients carried p.H949Y and p.L997F, and one CUAVD and the female CAU patient carried p.H949Y and p.I148T). All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing. Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.

Cognitive behavioral therapies (CBT) have been demonstrated efficacious in treating perinatal depression (PND). This has been demonstrated in several meta-analyses of randomized controlled trials and quasi-experimental studies. However, there is a need for up-to-date meta-analytical evidence providing reliable estimates for CBT’s effectiveness in treating and preventing PND. Furthermore, with the world moving toward precision medicine, approaches require a critical synthesis of psychotherapies, especially to unpack their mechanisms of action and to understand what approaches work best for whom. Therefore, the present systematic review and meta-regression analyses aim to answer these research questions.

BackgroundChronic disorders are highly prevalent and are a major contributor to death and disability worldwide. Evidence has shown that therapeutic patient education (TPE) interventions are effective in improving a range of biomedical and psychological outcomes for a variety of chronic disorders. This has been demonstrated in scores of randomized controlled and evidence-synthesis studies. However, no quantitative evidence has been published so far on the content and effective teaching strategies in TPE programs. The present systematic review and meta-analysis aim to bridge this gap by answering the who, what, and how of TPE programs.MethodsUsing a pretested search strategy, we searched the Web of Science, MEDLINE, CINAHL, PsycINFO, and the COCHRANE databases, from inception to August 2019. The search strategy was based on four comprehensive search concepts (patient education, chronic diseases, study design, and outcomes). After a careful screening for eligible studies, two reviewers extracted qualitative and quantitative data from the randomized controlled trials on the TPE interventions. We also developed a taxonomy of curriculum skills and intervention delivery techniques to aid the extraction of data in these domains.ResultsWe found that these interventions were effective in improving biological outcomes (SMD = 0.48; 95% CI: 0.38–0.57), adherence to the treatment regimen (SMD = 0.73; 95% CI: 0.46–1.002), knowledge (SMD = 1.22; 95% CI: 0.79–1.65), self-efficacy (SMD = 0.43; 95% CI: 0.30–0.56), and psychological health (SMD = −0.41; 95% CI: −0.53 to −0.29). This effectiveness was consistent across different delivery formats (individual, group, and electronic) and delivery agents (non-specialists vs. specialists).ConclusionThe flexibility in the choice of mode of delivery and curriculum development gives stakeholders an opportunity to scale up TPE interventions in healthcare settings.Systematic review registrationIdentifier: CRD42019141294.

Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in intellectual functioning and adaptive behaviors. A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmorphic facial features, postaxial polydactyly type B, and speech impairment. DNA of a single affected individual was directly subjected to whole exome sequencing (WES), followed by Sanger sequencing. Data analysis revealed a novel biallelic missense variant (c.1511G>C; p.(Trp504Ser)) in the ALKBH8 gene, which plays a significant role in tRNA modifications. Our finding adds another variant to the growing list of ALKBH8-associated tRNA modifications causing ID and additional phenotypic manifestations. The present study depicts the key role of the genes associated with tRNA modifications, such as ALKBH8, in the development and pathophysiology of the human brain.

BackgroundThe prevalence of perinatal depression is high and its adverse effects on mothers and infants are extensive. Several studies have explored the relationship between perinatal depression and health-related quality of life (HRQoL), but little is known about the nature and magnitude of this effect. The objectives of this study were to evaluate the HRQoL of mothers with perinatal depression and compare the HRQoL of depressed mothers with that of non-depressed mothers.MethodsA systematic review was performed according to the PRISMA guidelines. PubMed, EMBASE, Scopus, PsycINFO, Web of Science, Cochrane Central Register, the China National Knowledge Infrastructure, the VIP Database, and the Wan Fang Database were searched. The retrieval time was from the establishment of the database to July 2020. A series of meta-analyses were run for each outcome pertaining to HRQoL sub-measures. Subgroup analyses were conducted based on country income category and time period.ResultsOf 7,945 studies identified, 12 articles were included in the meta-analysis, providing HRQoL data for 4,392 mothers. Compared with non-depressed mothers, mothers with perinatal depression reported significantly poor scores across all the quality-of-life domains. Mixed-effects analysis showed that there was no difference in the HRQoL scores of mothers with antepartum and postpartum depression. Mothers with perinatal depression in higher-income countries reported higher disability on role-physical (p = 0.02) and social functioning domains (p = 0.001) than those from lower-income countries.LimitationsDue to insufficient data, no regression analysis was performed. The inability to accurately determine the difference in HRQoL between antepartum and postpartum depression was because of the restriction of the included studies. Moreover, most of the included studies were conducted in middle-income countries and may have an impact on the applicability of the results. Subgroup analyses are observational and not based on random comparisons. The results of subgroup analyses should be interpreted with caution.ConclusionHRQoL is compromised in mothers with perinatal depression. Continuous efforts are required to improve the HRQoL of perinatal depressed mothers.Systematic Review Registration: CRD42020199488.

Hearing impairment (HI) is a heterogeneous condition that affects many individuals globally with different age groups. HI is a genetically and phenotypically heterogeneous disorder. Over the last several years, many genes/loci causing rare autosomal recessive and dominant forms of hearing impairments have been identified, involved in various aspects of ear development. In the current study, two affected individuals of a consanguineous family exhibiting autosomal recessive nonsyndromic hearing impairment (AR-NSHI) were clinically and genetically characterized. The single affected individual (IV-2) of the family was subjected to whole-exome sequencing (WES) accompanied by traditional Sanger sequencing. Clinical examinations using air conduction audiograms of both the affected individuals showed profound hearing loss across all frequencies. WES revealed a homozygous missense variant (c.44G>C) in the SIX5 gene located on chromosome 19q13.32. We report the first case of autosomal recessive NSHI due to a biallelic missense variant in the SIX5 gene. This report further supports the evidence that the SIX5 variant might cause profound HI and supports its vital role in auditory function. Identification of novel candidate genes might help in application of future gene therapy strategies that may be implemented for NSHI, such as gene replacement using cDNA, gene silencing using RNA interference, and gene editing using the CRISPR/Cas9 system.