Parachute tricuspid valve in an asymptomatic adult

Parachute tricuspid valve is a rare anomaly usually reported in small children. This report describes transthoracic and trans-oesophageal echocardiographic (TEE) features of parachute mitral valve in an adult patient.     

Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia

Glanzmann thrombasthenia (GT) is an autosomal recessive platelet function disorder characterized by mucocutaneous bleeding as the most common clinical phenotype. Patients with GT have normal platelet counts, platelet morphology but reduced platelet aggregation in response to various agonists. Homozygosity or compound heterozygosity for variants in the ITGA2B/ITGB3 genes is the genetic basis for GT. Establishing a molecular diagnosis is definitive and is important for predictive testing. Using multi-gene panels is an accurate, faster, and cost-effective mode as compared to Sanger sequencing in large genes. We used a targeted resequencing based approach to identify pathogenic variants in eight cases in seven families. These variants were validated using Sanger sequencing in patients as well as family members and were predicted probably pathogenic using in-silico prediction tools. The variants include three missense (3/7 = 43%) (ITGA2B:c.1028 T > C, ITGA2B:c.1186G > A, ITGB3:c.1388G > C), two deletions (ITGA2B:c.559delG, ITGA2B:c.3092delT), one duplication (ITGA2B:c.1424_1427dupAGGT) and nonsense variant (ITGA2B:c.2578C > T, p.Gln860Ter). Except for one case which was compound heterozygous, the rest of the cases were homozygous. We found two novel variants that are reported for the first time in GT. The targeted resequencing based approach revealed varied genetic variants in North Indian patients, including two novels ones. The high yield of our panel indicates its suitability for usage in larger cohorts for the genetic diagnosis of GT patients. This approach is cost-effective and less cumbersome as compared to Sanger sequencing for these large size genes with multiple exons. The information so obtained is helpful in prenatal testing, carrier analysis, and genetic counseling.     

CD40-mediated immune cell activation enhances response to anti-PD-1 in murine intrahepatic cholangiocarcinoma

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Mental health systems in countries: where are we now?

More than 85% of the world's population lives in 153 low-income and middle-income countries (LAMICs). Although country-level information on mental health systems has recently become available, it still has substantial gaps and inconsistencies. Most of these countries allocate very scarce financial resources and have grossly inadequate manpower and infrastructure for mental health. Many LAMICs also lack mental health policy and legislation to direct their mental health programmes and services, which is of particular concern in Africa and South East Asia. Different components of mental health systems seem to vary greatly, even in the same-income categories, with some countries having developed their mental health system despite their low-income levels. These examples need careful scrutiny to derive useful lessons. Furthermore, mental health resources in countries seem to be related as much to measures of general health as to economic and developmental indicators, arguing for improved prioritisation for mental health even in low-resource settings. Increased emphasis on mental health, improved resources, and enhanced monitoring of the situation in countries is called for to advance global mental health.