Aerosol contributions to speleothem geochemistry

There is developing interest in cave aerosols due to the increasing awareness of their impacts on the cave environment and speleothems. This study presents the first multidisciplinary investigation into cave aerosols and their contribution to speleothem geochemistry. Modern monitoring of suspended aerosol concentrations, CO2 and temperature in Gough’s Cave, Cheddar Gorge have presented a strong relationship with cave ventilation processes. Temporal variations of aerosol levels have demonstrated the ability of aerosol monitoring to record seasonal ventilation shifts, beyond anthropogenic influences. When used in combination with more established monitoring methods, suspended aerosol monitoring is a beneficial addition to cave environmental studies Theoretical modelling and calculations based on modern aerosol monitoring have established that aerosol contributions are highly variable. Aerosol contributions are of greatest significance under slow growth or hiatus scenarios and high aerosol deposition scenarios. Marine and terrestrial aerosol contributions have been quantified in a flowstone core from New St Michaels Cave, Gibraltar. Additionally, bio-aerosol deposits and bacterial colonisation have been identified as a potential source of trace element bioaccumulation and flowstone coloration in Yarrangobilly Caves, Australia

Health checks for adults with intellectual disability and association with survival rates: a linked electronic records matched cohort study in Wales, UK

Objective To examine if mortality rates are lower in people with intellectual disability who have had a health check compared with those who have not had health checks. Setting General practice records of 26 954 people with an intellectual disability in Wales between 2005–2017, of which 7650 (28.4%) with a health check were matched 1:2 with those without a health check. Primary outcome measure Office of National Statistics mortality data; a Cox regression was utilised to examine time to death adjusted for comorbidities and gender. Results Patients who had a health check were stratified by those who (1) had a confirmed health check, that is, Read Code for a health check (n=7650 (28.4 %)) and (2) had no evidence of receiving a health check in their medical record. Patients with a health check were matched for age at time of health check with two people who did not have a health check. The health check was associated with improved survival for those with autism or Down’s Syndrome (HR 0.58 (95% CI 0.37 to 0.91) and HR 0.76 (95% CI 0.64 to 0.91), respectively). There was no evidence of improved survival for those diagnosed with diabetes or cancer. The people who had a health check were more likely to be older, have epilepsy and less likely to have autism or Down’s syndrome. Conclusions Health checks are likely to influence survival if started before a person is diagnosed with a chronic condition, especially for people with autism or Down’s syndrome

Health checks for adults with intellectual disability and association with survival rates: a linked electronic records matched cohort study in Wales, UK

Objective: To examine if mortality rates are lower in people with intellectual disability who have had a health check compared with those who have not had health checks.Setting: General practice records of 26 954 people with an intellectual disability in Wales between 2005–2017, of which 7650 (28.4%) with a health check were matched 1:2 with those without a health check.Primary outcome measure: Office of National Statistics mortality data; a Cox regression was utilised to examine time to death adjusted for comorbidities and gender.Results: Patients who had a health check were stratified by those who (1) had a confirmed health check, that is, Read Code for a health check (n=7650 (28.4 %)) and (2) had no evidence of receiving a health check in their medical record. Patients with a health check were matched for age at time of health check with two people who did not have a health check. The health check was associated with improved survival for those with autism or Down’s Syndrome (HR 0.58 (95% CI 0.37 to 0.91) and HR 0.76 (95% CI 0.64 to 0.91), respectively). There was no evidence of improved survival for those diagnosed with diabetes or cancer. The people who had a health check were more likely to be older, have epilepsy and less likely to have autism or Down’s syndrome.Conclusions: Health checks are likely to influence survival if started before a person is diagnosed with a chronic condition, especially for people with autism or Down’s syndrome

Cave aerosols: distribution and contribution to speleothem geochemistry

There is developing interest in cave aerosols due to the increasing awareness of their impacts on the cave environment and speleothem; this paper provides the first attempt to synthesize the issues. Processes of cave aerosol introduction, transport, deposition, distribution and incorporation are explored, and reviewed from existing literature. Key issues of specific aerosol processes of distribution and production as well as cave location and morphology effects are highlighted through the presentation of preliminary monitoring data. This study identifies the strong relationship between cave ventilation, cave aerosols and their consequent spatial distribution. The contribution of cave aerosol deposition to speleothem geochemistry is modelled and evaluated using a mass balance framework. As an example, speleothem trace element data from Obir Cave (Austria) are compared with aerosol inputs to evaluate their significance. The mass balance study demonstrates that generally, under normal continuous growth and environmental conditions aerosol deposition will be of only minor importance. However, it highlights specific scenarios in which aerosol contributions will be significant: speleothem hiatuses (or slow growth), high aerosol deposition, and secondary microbiological feedback

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays