Tourist Photographers and the Promotion of Travel: the Polytechnic Touring Association, 1888–1939

The Polytechnic Touring Association (PTA) was a London-based, originally philanthropic turned commercial travel firm whose historical origins coincided with the arrival of the Kodak camera in 1888 – thus, of popular (tourist) photography. This article examines the PTA’s changing relationship with tourist photographers, and how this influenced the company’s understanding of what role photography could play in promoting the tours, in the late nineteenth and early twenty century. This inquiry is advanced on the basis of the observation that, during this time, the PTA’s passage from viewing tourists as citizens to educate, to customers to please, paralleled the move from using photography-based images to mixed media. Such a development was certainly a response to unprecedented market demands; this article argues that it should also be considered in relation to the widening of photographic perceptions engendered by the democratization of the medium, to which the PTA responded, first as educator, then as service provider. In doing so, the article raises several questions about the shifting relationship between “high”, or established, and “low”, or emerging, forms of culture, as mass photography and the mass marketing of tourism developed

A stable (Li, O) and radiogenic (Sr, Nd) isotope perspective on metasomatic processes in a subducting slab

Two distinct types of eclogites from the Raspas Complex (Ecuador), which can be distinguished based on petrography and trace element geochemistry, were analyzed for their stable (Li, O) and radiogenic (Sr, Nd) isotope signature to constrain metasomatic changes due to fluid-overprinting in metabasaltic rocks at high-pressure conditions and to identify fluid sources. MORB-type eclogites are characterized by a relative LREE depletion similar to MORB. High-pressure (HP) minerals from this type of eclogite have highly variable oxygen isotope compositions (garnet: + 4.1 to + 9.8 ‰; omphacite: + 6.1 to + 11.0 ‰; phengite: 8.7 to 10.4 ‰; amphibole: 6.2 to 10.1 ‰) and generally show equilibrium oxygen isotope fractionation. Initial 87Sr/86Sr isotope ratios are also variable (0.7037-0.7063), whereas εNd130Ma values (+ 8.3 to + 11.0) are relatively similar. Sr and O isotopic compositional differences among rocks on outcrop scale, the preservation of O isotopic compositions of low-temperature altered oceanic crust, and Sr-Nd isotopic trends typical for seafloor alteration suggest inheritance from variably altered oceanic crust. However, decreasing δ7Li values (-0.5 to -12.9 ‰) with increasing Li concentrations (11-94 ppm) indicate Li isotope fractionation by diffusion related to fluid-rock interaction. Li isotopes prove to be a very sensitive tracer of metasomatism, although the small effects on the Sr-Nd-O isotope systems suggest that the fluid-induced metasomatic event in the MORB-type eclogites was small-scale at low-water/rock ratios. This metasomatic fluid is thought to predominantly derive from in situ dehydration of MORB-type rocks. Zoisite eclogites, the second eclogite type from the Raspas Complex, are characterized by the presence of zoisite and enrichment in many incompatible trace elements compared to the MORB-type eclogites. The zoisite eclogites have a homogenous Sr-Nd isotopic signature (Initial 87Sr/86Sr = 0.7075-0.7081, εNd130Ma = -6.7 to -8.7), interpreted to reflect a metasomatic overprint. The isotopic signature can be attributed to the metasomatic formation of zoisite because associated zoisite veins are isotopically similar. Relatively homogenous O isotope values for garnet (10.9-12.3 ‰) omphacite (9.4 to 10.8 ‰), amphibole (10.0-10.1 ‰) and zoisite (10.5-11.9 ‰) and inter-mineral O isotopic disequilibria are consistent with a metasomatic overprint via open-system fluid input. Li concentrations (46-76 ppm) and δ7Li values of the zoisite eclogites overlap the range of the MORB-type eclogites. The large amount of fluid required for isotopic homogenization, combined with the results from fluid inclusion studies, suggests that deserpentinization played a major role in generating the metasomatic fluid that altered the zoisite eclogites. However, influence of a (meta)sedimentary source is required based on Sr-Nd isotope data and trace element enrichments. The significant geochemical variation in the various eclogites generated by interaction with metasomatic fluids has to be considered in attempts to constrain recycling at convergent margins

The effect of subduction on the sulphur, carbon and redox budget of lithospheric mantle

Subduction of hydrated lithospheric mantle introduces H O, ferric iron, oxidized carbon and sulphur to the subduction zone system. The fate of these components is poorly known, but is intimately linked to the global geochemical cycles of iron, carbon and sulphur, the genesis of arc-related ore deposits, the temporal evolution of mantle redox state and subduction-related earthquakes and magmatism. thermocalc is used to provide first-order constraints on the effect of subduction zone metamorphism on metamorphic redistribution of iron, carbon, sulphur and water in ultramafic rocks via construction of P−T and T-X(O) pseudosections with open system calculation of the effect of fluid loss. The calculations replicate observed mineral assemblages in high-P to low-T ultramafic rocks at P−T conditions consistent with those suggested by other workers. The results are consistent with open system fluid loss without significant fluid infiltration. Water loss is complete by 850 C, the corresponding depth of fluid loss being consistent with that inferred for earthquakes in subducting slabs. Losses of carbon and sulphur are relatively minor, at around 5 GPa, below the depths of the source zone for arc volcanoes.Oxygen activity for rocks in closed systems that evolve with a fixed redox budget is calculated to change from ΔFMQ −1 at 350 C to over ΔFMQ +3 at 850 C. This result emphasizes the need to consider redox budget as well as oxygen activity when the results of experiments performed at fixed oxygen activity relative to some buffer are interpreted in the context of natural systems. In open systems, devolatilization is calculated to increase the redox budget and oxygen activity of the residue via loss of methane and H S at the brucite-out and serpentine-out reactions respectively. No fluid-induced mechanism for oxidation of sub-arc mantle by transfer of redox budget from hydrated ultramafic lithologies to the overlying sub-arc mantle was identified, although further thermodynamic data on fluid species such as S are required to confirm this

Sulfur isotope evolution in sulfide ores from Western Alps: Assessing the influence of subduction-related metamorphism

Sulfides entering subduction zones can play an important role in the release of sulfur and metals to the mantle wedge and contribute to the formation of volcanic arc-associated ores. Fractionation of stable sulfur isotopes recorded by sulfides during metamorphism can provide evidence of fluid-rock interactions during metamorphism and give insights on sulfur mobilization. A detailed microtextural and geochemical study was performed on mineralized samples from two ocean floor-related sulfide deposits (Servette and Beth-Ghinivert) in high-pressure units of the Italian Western Alps, which underwent different metamorphic evolutions. The combination of microtextural investigations with d34S values from in situ ion probe analyses within individual pyrite and chalcopyrite grains allowed evaluation of the effectiveness of metamorphism in modifying the isotopic record and mobilizing sulfur and metals and have insights on fluid circulation within the slab. Textures and isotopic compositions inherited from the protolith are recorded at Beth-Ghinivert, where limited metamorphic recrystallization is attributed to limited interaction with metamorphic fluids. Isotopic modification by metamorphic processes occurred only at the submillimeter scale at Servette, where local interactions with infiltrating hydrothermal fluid are recorded by metamorphic grains. Notwithstanding the differences recorded by the two deposits, neither underwent intensive isotopic reequilibration or records evidence of intense fluid-rock interaction and S mobilization during metamorphism. Therefore, subducted sulfide deposits dominated by pyrite and chalcopyrite are unlikely to release significant quantities of sulfur to the mantle wedge and to arc magmatism sources at metamorphic grades below the lower eclogite facies

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.Funding for the project was provided by the Wellcome Trust for UK10K (WT091310) and DDD Study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003] - see www.ddduk.org/access.html for full acknowledgement. This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute and the Common Fund, NIH Office of the Director. This work was supported in part by the German Ministry of Research and Education (grant nos. 01GS08160 and 01GS08167; German Mental Retardation Network) as part of the National Genome Research Network to A.R. and D.W. and by the Deutsche Forschungsgemeinschaft (AB393/2-2) to A.R. Brain expression data was provided by the UK Human Brain Expression Consortium (UKBEC), which comprises John A. Hardy, Mina Ryten, Michael Weale, Daniah Trabzuni, Adaikalavan Ramasamy, Colin Smith and Robert Walker, affiliated with UCL Institute of Neurology (J.H., M.R., D.T.), King’s College London (M.R., M.W., A.R.) and the University of Edinburgh (C.S., R.W.)

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

The contribution of X-linked coding variation to severe developmental disorders

Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Tuawaike’s house, Roubouki. May 14 1844.

Lower centre (l.c.) - l.r. in pencil: Tuawaike’s house, Roubouki May 1844; u.c. - u.r. in iron gall ink: 7 Tuawaki’s house Ruabieki May 14 1844; verso: Jacob’s R. NW by W Dist 18 m. Sandy beach all the way. Distant snowy mountains. Rocks. Island. New River wood [sketch map