OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene. In this study we characterized the hearing dysfunction in OPA1-linked disorders and provided effective rehabilitative options to improve speech perception. We studied two groups of OPA1 subjects, one comprising 11 patients (7 males; age range 13-79 years) carrying OPA1 mutations inducing haploinsufficiency, the other, 10 subjects (3 males; age range 5-58 years) carrying OPA1 missense mutations. Both groups underwent audiometric assessment with pure tone and speech perception evaluation, and otoacoustic emissions and auditory brainstem response recording. Cochlear potentials were recorded through transtympanic electrocochleography from the group of patients harboring OPA1 missense mutations and were compared to recordings obtained from 20 normally-hearing controls and from 19 subjects with cochlear hearing loss. Eight patients carrying OPA1 missense mutations underwent cochlear implantation. Speech perception measures and electrically-evoked auditory nerve and brainstem responses were obtained after one year of cochlear implant use. Nine out of 11 patients carrying OPA1 mutations inducing haploinsufficiency had normal hearing function. In contrast, all but one subject harboring OPA1 missense mutations displayed impaired speech perception, abnormal brainstem responses and presence of otoacoustic emissions consistent with auditory neuropathy. In electrocochleography recordings, cochlear microphonic had enhanced amplitudes while summating potential showed normal latency and peak amplitude consistent with preservation of both outer and inner hair cell activities. After cancelling the cochlear microphonic, the synchronized neural response seen in both normally-hearing controls and subjects with cochlear hearing loss was replaced by a prolonged, low-amplitude negative potential that decreased in both amplitude and duration during rapid stimulation consistent with neural generation. The use of cochlear implant improved speech perception in all but one patient. Brainstem potentials were recorded in response to electrical stimulation in five subjects out of six, whereas no compound action potential was evoked from the auditory nerve through the cochlear implant. These findings indicate that underlying the hearing impairment in patients carrying OPA1 missense mutations is a disordered synchrony in auditory nerve fiber activity resulting from neural degeneration affecting the terminal dendrites. Cochlear implantation improves speech perception and synchronous activation of auditory pathways by by-passing the site of lesion

A multi-scale regional landslide susceptibility assessment approach: the SUFRA_SICILIA (SUscettibilit\ue0 da FRAna in Sicilia) project

The SUFRA project is based on a three level susceptibility mapping. According to the availability of more detailed data, the three scale for susceptibility mapping are increased respect to the ones suggested by the TIER group to 1:100,000, 1:50,000 and 1:25,000/1:10,000. The mapping levels exploit climatic, soil use (CORINE2009) and seismic informative layers, differentiating in the details of the core data (geology and topography), in the quality and resolution of the landslide inventory and in the modelling approach (Tab. 1). SUFRA_100 is based on a heuristic approach which is applied by processing a geologic layer (produced by ARTA integrating pre-CARG 1:100,000 geologic maps); the DEM exploited are IGMI 250m and the mapping units are 1km side square cells. Models are validated with respect to the PAI LIPs (Landslide Identification Points) which are reclassified adopting a simplified scheme. Output cuts of SUFRA100 will be referred to administrative boundaries (provinces). SUFRA50 is based on statistical analysis of new CARG geologic maps and 20m (ITA2000) - 2m (ATA2007) DEM. The mapping units are 500m and 50m cells, hydrographic and hydro-morphometric units. The landslide inventory is the IFFI2012_LIPs (first level) which is the result of the conversion in IFFI format of the PAI archive, which will be supported by remote landslide mapping (exploiting the ATA2007 aerial photos), according to the IFFI first level approach. Validation of the models will be performed exploiting both random spatial partition and temporal partition methods. Output cuts of SUFRA50 will be based on physiographic (basin) and administrative (municipalities) boundaries. SUFRA10/25 is based on statistical analysis of new CARG geologic maps (remotely and field adapted) and 2m (ATA2007) DEM. The mapping units are the slope units (SLUs) which are derived by further partitioning the hydro-morphometric units so to obtain closed morphodynamic units. The landslide inventories is the IFFI2012 which is the results of a field supported (on focus) landslide remote systematic mapping, according to the IFFI full level approach. Examples of SUFRA_100, SUFRA_50 and SUFRA_10 are presented for some representative key sector of Sicily. First results attest for the feasibility and goodness of the proposed protocol. The SUFRA program aims at enabling the regional governmental administration to cope with landslide prevision, which is the required operational concept in land management and planning. PAI has been a great advance with respect to the \u201cpre-SARNO\u201d conditions, but it is very exposed to fail: it is a blind approach for new activations; it is critically dependent on the quality of the landslide inventories; it cannot project the susceptibility outside the landslide area

What is known about the care and support provided for an ageing population with lived experience of chronic viral hepatitis as they near end-of-life: A scoping review

Ageing with a chronic hepatitis B (HBV) or hepatitis C (HCV) infection is an emerging public health priority. For people living with chronic viral hepatitis, their disease progression into old age is both underpinned by their existing blood borne virus and the potential emergence of other infectious and non-infectious conditions. These twinned pathways bring additional challenges to the care and support for people as they near end of life. This scoping review sought to examine what is known about the experiences of the end-of-life phase of an increasing population ageing with HBV and HCV in studies conducted in high-income settings and published in peer reviewed literature (2010–2021). In interpreting this literature, we found that challenges in determining the end-of life phase for people with lived experience of HBV or HCV are exacerbated by the conflation of aetiologies into a singular diagnosis of end-stage liver disease. Studies overwhelmingly reported the clinical aspects of end-of-life care (i.e. prognosis assessment and symptom management) with less attention paid to educative aspects (i.e. advance care directives and surrogate decision makers, discussion of treatment options and determining goals of care). Psychosocial interventions (i.e. quality of life beyond symptom management, including emotional/spiritual support and family and bereavement support) received limited attention in the literature, though there was some recognition that psychosocial interventions should be part of end-of-life care provision. Given the focus on the prominent disease presentation of liver cirrhosis and/or end-stage liver disease, the social and cultural dimensions of these infections have received less attention in the literature on end-of-life in the context of chronic viral hepatitis

Sudden hearing loss in sarcoidosis: otoneurological study and neuroradiological correlates

Sarcoidosis is an inflammatory multisystem disorder of unknown cause. Approximately 5-7% of patients manifest symptoms of central nervous system involvement, or neurosarcoidosis. Cranial neuropathy usually entails facial nerve palsy and optic neuritis. Sudden hearing loss has been reported in fewer than 20 cases. Herewith, two new cases of sudden hearing loss due to probable neurosarcoidosis are reported, each having a quite different clinical course. In one case, unilateral sudden hearing loss and facial palsy were the presenting symptoms of systemic sarcoidosis, while in the second, unilateral sudden deafness occurred despite ongoing immunosuppressive treatment for systemic sarcoidosis

Differences in stigma reduction related to injection drug use between people expressing conservative, moderate and progressive values following an online intervention

Introduction: Contact interventions have shown short-term effectiveness in reducing stigmatising attitudes and behaviours of the public towards marginalised population groups, including people who inject drugs. We theorised that the effectiveness of an intervention differs according to peoples' underlying social values and undertook a study to test this. Methods: We recruited participants from the Australian public by social media and measured their attitudes, desire to maintain personal distance, and support for structural stigma towards people who inject drugs before and after a brief online video intervention (n = 314). We divided participants into tertile groups according to their responses to a conservatism scale and compared group differences in post-intervention stigma scores (n = 242–244), controlling for pre-intervention scores and demographic variables. Results: Adjusting for baseline levels, the post-intervention scores in all measures showed significant improvement but scores of the moderate group were consistently most improved. Stigmatising attitudes in the moderate group were significantly reduced when compared with the conservative and progressive groups. However, reductions in desire for personal distance and support for structural stigma did not significantly differ by conservatism group. Discussion and Conclusions: A brief online contact intervention showed immediate effectiveness in reducing stigma towards people who inject drugs. As people with moderate values were found to be more amenable to changing their perspectives, audience social values may need consideration when designing and evaluating stigma interventions. More research is needed to understand how to influence people with more conservative values, and how to increase public support for policies and practices that reduce stigma

Anthroponotic transmission of Cryptosporidium parvum predominates in countries with poorer sanitation - a systematic review and meta-analysis

Background: Globally cryptosporidiosis is one of the commonest causes of mortality in children under 24 months old and may be associated with important longterm health effects. Whilst most strains of Cryptosporidium parvum are zoonotic, C. parvum IIc is almost certainly anthroponotic. The global distribution of this potentially important emerging infection is not clear. Methods: We conducted a systematic review of papers identifying the subtype distribution of C. parvum infections globally. We searched PubMed and Scopus using the following key terms Cryptospor* AND parvum AND (genotyp* OR subtyp* OR gp60). Studies were eligible for inclusion if they had found C. parvum within their human study population and had subtyped some or all of these samples using standard gp60 subtyping. Pooled analyses of the proportion of strains being of the IIc subtype were determined using StatsDirect. Meta-regression analyses were run to determine any association between the relative prevalence of IIc and Gross Domestic Product, proportion of the population with access to improved drinking water and improved sanitation. Results: From an initial 843 studies, 85 were included in further analysis. Cryptosporidium parvum IIc was found in 43 of these 85 studies. Across all studies the pooled estimate of relative prevalence of IIc was 19.0% (95% CI: 12.9–25.9%), but there was substantial heterogeneity. In a meta-regression analysis, the relative proportion of all C. parvum infections being IIc decreased as the percentage of the population with access to improved sanitation increased and was some 3.4 times higher in those studies focussing on HIV-positive indivduals. Conclusions: The anthroponotic C. parvum IIc predominates primarily in lower-income countries with poor sanitation and in HIV-positive individuals. Given the apparent enhanced post-infectious virulence of the other main anthroponotic species of Cryptosporidium (C. hominis), it is important to learn about the impact of this subtype on human health

Anthroponotic transmission of Cryptosporidium parvum predominates in countries with poorer sanitation - a systematic review and meta-analysis

Background: Globally cryptosporidiosis is one of the commonest causes of mortality in children under 24 months old and may be associated with important longterm health effects. Whilst most strains of Cryptosporidium parvum are zoonotic, C. parvum IIc is almost certainly anthroponotic. The global distribution of this potentially important emerging infection is not clear. Methods: We conducted a systematic review of papers identifying the subtype distribution of C. parvum infections globally. We searched PubMed and Scopus using the following key terms Cryptospor* AND parvum AND (genotyp* OR subtyp* OR gp60). Studies were eligible for inclusion if they had found C. parvum within their human study population and had subtyped some or all of these samples using standard gp60 subtyping. Pooled analyses of the proportion of strains being of the IIc subtype were determined using StatsDirect. Meta-regression analyses were run to determine any association between the relative prevalence of IIc and Gross Domestic Product, proportion of the population with access to improved drinking water and improved sanitation. Results: From an initial 843 studies, 85 were included in further analysis. Cryptosporidium parvum IIc was found in 43 of these 85 studies. Across all studies the pooled estimate of relative prevalence of IIc was 19.0% (95% CI: 12.9–25.9%), but there was substantial heterogeneity. In a meta-regression analysis, the relative proportion of all C. parvum infections being IIc decreased as the percentage of the population with access to improved sanitation increased and was some 3.4 times higher in those studies focussing on HIV-positive indivduals. Conclusions: The anthroponotic C. parvum IIc predominates primarily in lower-income countries with poor sanitation and in HIV-positive individuals. Given the apparent enhanced post-infectious virulence of the other main anthroponotic species of Cryptosporidium (C. hominis), it is important to learn about the impact of this subtype on human health

Global prevalence of childhood cataract: a systematic review

Childhood cataract is an avoidable cause of visual disability worldwide and is a priority for VISION 2020: The Right to Sight. There is a paucity of information about the burden of cataract in children and the aim of this review is to assess the global prevalence of childhood cataract. The methodology for the review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We performed a literature search for studies reporting estimates of prevalence or incidence of cataract among children (aged<18 years) at any global location using the Cochrane Library, Medline and Embase up to January 2015. No restrictions were imposed based on language or year of publication. Study quality was assessed using a critical appraisal tool designed for systematic reviews of prevalence. Twenty prevalence and four incidence studies of childhood cataract from five different geographical regions were included. The overall prevalence of childhood cataract and congenital cataract was in the range from 0.32 to 22.9/10000 children (median=1.03) and 0.63 to 9.74/10000 (median=1.71), respectively. The incidence ranged from 1.8 to 3.6/10000 per year. The prevalence of childhood cataract in low-income economies was found to be 0.42 to 2.05 compared with 0.63 to 13.6/10000 in high-income economies. There was no difference in the prevalence based on laterality or gender. This review highlights substantial gaps in the epidemiological knowledge of childhood cataract worldwide, particularly from low and lower middle-income economies. More studies are needed using standard definitions and case ascertainment methods with large enough sample sizes

“A huge, unwieldy barrier to push through on a daily basis”: The effects of stigma on AOD workers and workplaces

Background: Stigma is known to impact the experiences of people who use drugs, hampering the realisation of better health and social justice outcomes, but much less is understood about how it impacts people who work in alcohol and other drug (AOD) services. Methods: Within an online survey, Australian AOD workers provided text responses to questions about their perceptions and experiences of stigma, job satisfaction, and workplace wellbeing (n = 190). Data were analysed using iterative categorisation, and themes outlining two stigma manifestations and one intervention were generated with reference to the Health Stigma and Discrimination Framework. Findings: AOD workers observed and were affected by stigma directed at people who use substances, whether personally as individuals with living/lived experience or indirectly through their professional role. Identifying and addressing stigma comprised essential but under-acknowledged work, best performed in a supportive organisational context. Contending with the structural drivers of stigma, which reinforce negative perceptions of service users and limit the effectiveness of health and wellbeing interventions, was described as both stressful and motivating. Workers also derived a sense of moral responsibility and experienced pride or personal fulfillment in providing compassionate care and contributing to progressive social change. Conclusions: Understanding, responding to, and mitigating stigma need recognition as core aspects of AOD professional roles. To support worker retention and wellbeing, we suggest AOD services prioritise the development of strategies for working within a stigmatised context, while continuing to advocate against the injustices that stigma creates for people who use drugs

Addressing injecting related risks among people who inject both opioids and stimulants: Findings from an Australian survey of people who inject drugs

Background: Opioids and stimulants are the most commonly injected illicit drugs worldwide and in Australia. While some people who inject drugs (PWID) prefer either opioids or stimulants, others regularly use both opioids and stimulants. Limited available research indicates that those who use opioids and stimulants together, either in combination or alternating between the two, may engage in injection-related practices which potentially place them at greater health risk and could lead to poorer health outcomes. Methods: Participants were recruited nationally through member organizations of the Australian Injecting and Illicit Drug Users League (AIVL); these organizations represent PWID in each Australian state and territory. This study compared a sample of PWID (N = 535) who reported past-month injection of opioids only (N = 173), stimulants only (N = 208), or both (N = 154) on a range of health and wellbeing outcomes. PWID completed a survey assessing drugs injected, frequency of injecting, receptive equipment sharing, psychological distress, self-reported hepatitis C (HCV) status, experienced and internalized stigma, drug use salience, and community attachment. Results: People who injected both opioids and stimulants reported more frequent injecting, more experiences of stigma, and greater reported HCV diagnosis than people who injected stimulants or opioids alone. They also showed greater attachment to a community of PWID and greater salience of drug use to their identity. Conclusions: The findings of increased injecting and broader harms associated with injecting both stimulants and opioids are important for tailoring harm reduction and intervention designs for people who use both opioid and stimulant drugs, including prioritizing peer-based approaches