Despite a large body of research evaluating factors associated with the relapse of psychosis in schizophrenia, no studies in Pakistan have been undertaken to date to identify any such factors, including specific cultural factors pertinent to Pakistan. Semistructured interviews and psychometric measures were undertaken with 60 patients diagnosed with schizophrenia (49 male and 11 female) and their caregivers at four psychiatric hospitals in the Peshawar region in Pakistan. Factors significantly associated with psychotic relapse included treatment non-adherence, comorbid active psychiatric illnesses, poor social support, and high expressed emotion in living environments (P < 0.05). The attribution of symptoms to social and cultural values (97%) and a poor knowledge of psychosis by family members (88%) was also prevalent. In addition to many well-documented factors associated with psychotic relapse, beliefs in social and cultural myths and values were found to be an important, and perhaps treatable, factor associated with relapse of psychosis in Pakistan. The provision of evidence-based psychotherapeutic interventions, such as behaviour and family therapy and cognitive behaviour therapy for psychosis, could potentially ameliorate the relapse rate of psychosis in Pakistan.

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Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We identified three consanguineous families affected by bilateral infantile cataracts. Using exome sequencing, we found homozygous loss-of-function variants in DNMBP: nonsense variant c.811C>T (p.Arg271*) in large family F385 (nine affected individuals; LOD score ¼ 5.18 at q ¼ 0), frameshift deletion c.2947_2948del (p.Asp983*) in family F372 (two affected individuals), and frameshift variant c.2852_2855del (p.Thr951Metfs*41) in family F3 (one affected individual). The phenotypes of all affected individuals include infantile-onset cataracts. RNAi-mediated knockdown of the Drosophila ortholog still life (sif), enriched in lens-secreting cells, affects the development of these cells as well as the localization of E-cadherin, alters the distribution of septate junctions in adjacent cone cells, and leads to a 50% reduction in electroretinography amplitudes in young flies. DNMBP regulates the shape of tight junctions, which correspond to the septate junctions in invertebrates, as well as the assembly pattern of E-cadherin in human epithelial cells. E-cadherin has an important role in lens vesicle separation and lens epithelial cell survival in humans. We therefore conclude that DNMBP loss-of-function variants cause infantile-onset cataracts in humans.

This study aims to explore the role of conventional beliefs and social stigma on attitude towards access to mental health services. From 50 caregivers data were collected by Perceived Public Stigma Scale and an in-depth semi-structured interview. The majority (86%) of patients having significant symptoms of major mental illness visited traditional healer prior to engagement with the mental health services. However a significant positive finding, related to carers predominantly perceiving that individuals with mental health difficulties were trustworthy, capable of engagement in employment and were comfortable with having them as their friends were identified.

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