Despite its low prevalence, the potential diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) should be at the forefront of a paediatric cardiologists mind in children with syncope during exercise or emotions. Over the years, the number of children with a genetic diagnosis of CPVT due to a (likely) pathogenic RYR2 variant early in life and prior to the onset of symptoms has increased due to cascade screening programmes. Limited guidance for this group of patients is currently available. Therefore, we aimed to summarise currently available literature for asymptomatic patients with a (likely) pathogenic RYR2 variant, particularly the history of CPVT and its genetic architecture, the currently available diagnostic tests and their limitations, and the development of a CPVT phenotype – both electrocardiographically and symptomatic – of affected family members. Their risk of arrhythmic events is presumably low and a phenotype seems to develop in the first two decades of life. Future research should focus on this group in particular, to better understand the development of a phenotype over time, and therefore, to be able to better guide clinical management – including the frequency of diagnostic tests, the timing of the initiation of drug therapy, and lifestyle recommendations.

The widespread occurrence of pyrope garnet in Archean lithospheric mantle remains one of the 'holy grails' of mantle petrology. Most garnets found in peridotitic mantle equilibrated with incompatible-trace-element enriched melts or fluids and are the products of metasomatism. Less common are macroscopic intergrowths of pyrope garnet formed by exsolution from orthopyroxene. Spectacular examples of these are preserved in both mantle xenoliths and large, isolated crystals (megacrysts) from the Kaapvaal craton of southern Africa, and provide direct evidence that some garnet inthe sub-continental lithospheric mantle formed initially by isochemical rather than metasomatic processes. The orthopyroxene hosts are enstatites and fully equilibrated with their exsolved phases (low-Cr pyrope garnet ± Cr-diopside). Significantly, P-T estimates of the postexsolution orthopyroxenes plot along an unperturbed conductive Kaapvaal craton geotherm and reveal that they were entrained from a large continuous depth interval (85 to 175 km). They therefore represent snapshots of processes operating throughout almost the entire thickness of the sub-cratonic lithosphericmantle.

New rare-earth element (REE) analyses show that the exsolved garnets occupy the full spectrum recorded by garnets in mantle peridotites and also diamond inclusions. A key finding is that a few low-temperature exsolved garnets, derived from depths of ∼90 km, are more depleted in light rare-earth elements (LREEs) than previously observed in any other mantle sample. Importantly, the REE patterns of these strongly LREE-depleted garnets resemble the hypothetical composition proposed for pre-metasomatic garnets that are thought to pre-date major enrichment events in the sub-continental lithospheric mantle, including those associated with diamond formation. The recalculated compositions of pre-exsolution orthopyroxenes have higher Al2O3 and CaO contents than their post-exsolution counterparts and most probably formed as shallow residues of large amounts of adiabatic decompression melting in the spinel-stability field. It is inferred that exsolution of garnet from Kaapvaal orthopyroxenes may have been widespread, and perhaps accompanied cratonization at ∼2.9 to 2.75 Ga. Such a process would considerably increase the density and stability of the continental lithosphere.

Heterogeneity is observed in the patterns of cognition in Alzheimer’s disease (AD). Such heterogeneity might suggest the involvement of different etiological pathways or different host responses to pathology. A total of 627 subjects with mild/moderate AD underwent cognitive assessment with the Mini-Mental State Examination (MMSE) and the Dementia Rating Scale-2 (DRS-2). Latent class analysis (LCA) was performed on cognition subscale data to identify and characterize cognitive subgroups. Clinical, demographic, and genetic factors were explored for association with class membership. LCA suggested the existence of four subgroups; one group with mild and another with severe global impairment across the cognitive domains, one group with primary impairments in attention and construction, and another group with primary deficits in memory and orientation. Education, disease duration, age, Apolipoprotein E-ε4 (APOE ε4) status, gender, presence of grasp reflex, white matter changes, and early or prominent visuospatial impairment were all associated with class membership. Our results support the existence of heterogeneity in patterns of cognitive impairment in AD. Our observation of classes characterized by predominant deficits in attention/construction and memory respectively deserves further exploration as does the association between membership in the attention/construction class and APOE ε4 negative status. (JINS, 2010, 16, 233–243.)

Detailed sampling of the Little Minch Sill Complex reveals that it is composed of both single and multiple sills. These are formed of three main, genetically related units: picrite, picrodolerite and crinanite, which are the result of differentiation of an alkali-olivine basalt magma (approximately 10% MgO) in an upper-crustal magma chamber. Variations in igneous stratigraphy and the presence of internal chills in the Trotternish sills suggest that they were emplaced by multiple intrusion and subsequently differentiated in situ. Changes in petrography adjacent to pegmatite veins and textures within picrite units indicate compaction and filter-pressing were important processes after emplacement. Rhythmic layering (1 cm to 1 m thick) is conspicuous in the sills near contacts but does not involve cryptic mineral variation. Such modal layering may be more common than realised in relatively small-scale intrusions and maybe modelled in terms of in situ differentiation under conditions of significant undercooling in a changing thermal gradient at the synthetic for-sterite-diopside-anorthite eutectic.