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This work presents spatial and temporal change of optical properties of aerosols over Japan and Western Australia. The measurements by a portable multi-spectral polarimeter (PSR-1000) from 1997 to 2000 provide the optical thickness of aerosols and the A˚ngstro¨m exponent. For comparison, the same aerosol parameters are derived from the satellite data, e.g. ADEOS / POLDER and/or SeaWiFS data. It is shown that the obtained results from the space-based data are validated with the results from the ground measurements on a local scale, and the retrieved aerosol characteristics exhibit each intrinsic feature for each region. [Copyright &y& Elsevier]

Abstract: There has been a heightened interest in sea surface temperature (SST) measurements during the past two decades, particularly on a global scale, due largely to the advent of several El Nino episodes and increasing worldwide concern about global warming. Because of the continuous global measurements of SST that satellites can provide they play a fundamental role in acquiring the data sets necessary for studies of such climate processes. However, the satellite data still need to be validated against in situ measurements in order to assess the accuracy of satellite SST retrieval algorithms. Validation of such SST retrieval algorithms is the primary aim of the SST measurement program component of the Hillarys Transect. This paper describes a methodology for the validation of satellite-derived SST as well as the seasonal variation of SST off the coast of southern Western Australia. It discusses the factors which may affect the quality of in situ validation data and concludes that measurements of the bulk sea surface temperature (BSST) should be the preferred in situ data source for validation of satellite-based algorithms derived from floating buoy measurements. In this study BSST data possessed superior accuracy over the coincident radiometric sea surface skin temperature (SSST) data, and were found to be significantly better for validation purposes under wind speed conditions below . [Copyright &y& Elsevier]

The objective of the study was to characterize the timing and trends of select mitigation policies, changes in community mobility, and coronavirus disease 2019 (COVID-19) epidemiology in Australia, Japan, Hong Kong, and Singapore. Prospective abstraction of publicly available mitigation policies obtained from media reports and government websites. Data analyzed include seven kinds of mitigation policies (mass gathering restrictions, international travel restrictions, passenger screening, traveler isolation/quarantine, school closures, business closures, and domestic movement restrictions) implemented between January 1 and April 26, 2020, changes in selected measures of community mobility assessed by Google Community Mobility Reports data, and COVID-19 epidemiology in Australia, Japan, Hong Kong, and Singapore. During the study period, community mobility decreased in Australia, Japan, and Singapore; there was little change in Hong Kong. The largest declines in mobility were seen in places that enforced mitigation policies. Across settings, transit-associated mobility declined the most and workplace-associated mobility the least. Singapore experienced an increase in cases despite the presence of stay-at-home orders, as migrant workers living in dormitories faced challenges to safely quarantine. Public policies may have different impacts on mobility and transmission of severe acute respiratory coronavirus-2 transmission. When enacting mitigation policies, decision makers should consider the possible impact of enforcement measures, the influence on transmission of factors other than movement restrictions, and the differential impact of mitigation policies on subpopulations. [ABSTRACT FROM AUTHOR]

The intracellular pathogens Toxoplasma gondii, Brucella spp., and Chlamydia spp. are all known causative agents of abortion in wildlife. Both T. gondii and Brucella spp. have been identified in marine mammal abortions and a limited number of studies have detected their potential presence in Australian fur seals (Arctocephalus pusillus doriferus), but data are sparse for these pathogens in Australian fur seal breeding colonies. Australian fur seals have been shown to have a high degree of third-trimester pregnancy loss in one of their largest breeding colonies. Additionally, pup production has declined at the largest breeding colony for the species. This study surveyed the presence of T. gondii, Brucella spp., and Chlamydia spp. as potential infectious causes of this reproductive loss. Aborted fetuses were collected from two of the largest breeding colonies for the species, Seal Rocks (n=19) and Kanowna Island (n=34). These were examined grossly and through histopathological evaluation, in conjunction with molecular testing for all three pathogens. Placentas were collected from full-term births during the pupping season from Kanowna Island (n=118). These were used to compare the molecular prevalence of the three pathogens in presumed successful pregnancies. Chlamydia spp. was not detected in aborted fetuses in this study. Brucella spp. was detected with PCR in both aborted fetuses (9.4%) and placentas from full-term births (3.4%), and T. gondii was detected using routine histopathology (n=2/53), immunohistochemistry (n=3/4), and PCR (n=4/53) in tissues from aborted fetuses. Toxoplasma gondii was present in 7.5% of third-trimester abortions and absent from all full-term placentas. Brucella spp. was detected in both aborted fetuses and full-term placentas. This is the first description of vertical transmission of T. gondii in a marine mammal from the southern hemisphere., (© Wildlife Disease Association 2024.)

Limb-girdle muscular dystrophy recessive 27 is associated with biallelic variants in JAG2, encoding the JAG2 notch ligand. Twenty-four affected individuals from multiple families have been described in two reports. We present two Australian families with three novel JAG2 missense variants: (c.1021G>T, p.(Gly341Cys)) homozygous in two siblings of Pakistani origin, and compound heterozygous variants (c.703T>C, p.(Trp235Arg); c.2350C>T, p.(Arg784Cys)) in a proband of European ancestry. Patients presented with childhood-onset limb-girdle-like myopathy with difficulty or inability walking. MRI revealed widespread torso and limb muscle involvement. Muscle pathology showed myopathic changes with fatty infiltration. Muscle RNA sequencing revealed significant downregulation of myogenesis genes PAX7, MYF5, and MEGF10 similar to previous JAG2-related muscular dystrophy cases or Jag2-knockdown cells. In absence of functional assays to characterise JAG2 variants, clinical, MRI and transcriptomic profiling collectively may help discern JAG2-related muscular dystrophy, diagnosis of which is essential for patients and families given the severity of disease and reoccurrence risk., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare., (Copyright © 2024. Published by Elsevier B.V.)

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can infect a broad range of animal species and has been associated with severe disease in some taxa. Few studies have evaluated optimal strategies to mitigate the risk to susceptible zoo animals. This study evaluated the safety and immunogenicity of a protein-based veterinary SARS-CoV-2 vaccine (SpikeVet™) in zoo animals. Two to three doses of SpikeVet™ were administered intramuscularly or subcutaneously 3-4 weeks apart to 354 zoo animals representing 38 species. SpikeVet™ was very well tolerated across all species. Minor adverse effects were observed in 1.69% of animals vaccinated, or 1.04% of vaccine doses administered. Preliminary immunogenicity analyses in representative carnivores (meerkats, lions) and an artiodactylid (domestic goat) showed SpikeVet™-immunized animals developed serum antibodies able to neutralize a range of SARS-CoV-2 variants, including the vaccine-homologous Wuhan and Mu variants, as well as vaccine-heterologous Omicron BA.2 and XBB.1 strains. Prior to vaccination, all eight lions were seropositive for Wuhan strain by surrogate viral neutralization testing, suggesting past infection with SARS-CoV-2 or cross-reactive antibodies generated by another closely related coronavirus. These results from a range of zoo species support the ongoing development of SpikeVet™ as a safe and effective veterinary SARS-CoV-2 vaccine., (© 2024 John Wiley & Sons Ltd.)

Once rodents have been successfully eradicated from Lord Howe Island, Australia, the critically endangered Lord Howe Island stick insect (Dryococelus australis (Montrouzier)) may be reintroduced, a century after it was thought to have become extinct. In captive populations of D. australis, elevated mortalities have been associated with bacterial pathogens. To better define the infectious risk posed by entomopathogens to the reintroduction program, we investigated the bacteria isolated from captive D. australis kept at Melbourne Zoo and on Lord Howe Island and from environmental samples and free-living invertebrates collected on various parts of the island. At Melbourne Zoo, Serratia and Pseudomonas spp. were the bacteria most frequently isolated between 2013 and 2019. Serratia spp. were also the organisms most frequently isolated from insects sampled in April 2019 from the captive population on Lord Howe Island. In addition, Serratia spp. were isolated from a range of environmental samples collected on Lord Howe Island during March-April 2019. These environmental isolates had a broader range of biochemical and molecular characteristics than those obtained from the captive insect populations. A large proportion of these isolates were urease positive and had biochemical profiles previously not described for Serratia spp. This study highlights the need for better surveillance for potential pathogens in understudied regions and sites. We conclude that infections caused by Serratia spp. might pose a problem to the captive breeding program for D. australis but that the risk of introducing novel pathogens to Lord Howe Island through infected insects is low. Our study explores some of the potential risks involved in captive breeding and provides a valuable example of using pathogen surveillance to better inform an invertebrate conservation program., (© Wildlife Disease Association 2024.)

Aim: Breast cancer incidence is rapidly increasing throughout South East Asia, highlighting the need for high-quality early diagnosis and treatment. This study aims to investigate the efficacy of mammography detection in Hanoi and Ho Chi Minh City (HCMC), Vietnam, using data from Australian radiologists as a benchmark; factors that influence performance will be highlighted., Methods: A total of 53, 35 and 52 clinicians from Australia, HCMC and Hanoi, respectively, examined and diagnosed a test set of 60 mammograms, 20 of which contained cancers. Each clinician completed an accompanying questionnaire establishing demographic and experiential characteristics. The performance metrics of specificity, sensitivity, area under the receiver operating characteristic curve (AUC), location sensitivity and Jackknife free-response ROC (JAFROC) figure of merit were used to evaluate clinicians performance. Mann-Whitney and Kruskal-Wallis statistical methods were employed to establish significance., Results: Vietnamese radiologists demonstrated significantly lower sensitivity, AUC, lesion sensitivity and JAFROC scores compared to Australian radiologists. There was no difference in performance between clinicians from Hanoi and HCMC. However, certain performance features (older and more experienced clinicians compared with their younger, less experienced counterparts, readers who read more compared with fewer mammograms per week, clinicians with greater radiological experience and clinicians that completed a fellowship) demonstrated significantly better performances., Conclusions: The significant difference in diagnostic efficacy of mammograms between Vietnam and Australia identifies the need for improvements in breast radiology training, management and practice. Cost-effective solutions are available that can improve the reading efficacy of clinicians, and consequently health outcomes for Vietnamese women., (© 2020 John Wiley & Sons Australia, Ltd.)

Aims/hypothesis: We aimed to assess associations between cord blood metabolic markers and fetal overgrowth, and whether cord markers mediated the impact of maternal adiposity on neonatal anthropometric outcomes among children born to Indigenous and Non-Indigenous Australian women with normal glucose tolerance (NGT), gestational diabetes mellitus (GDM) and pregestational type 2 diabetes mellitus., Methods: From the Pregnancy and Neonatal Outcomes in Remote Australia (PANDORA) study, an observational cohort of 1135 mother-baby pairs, venous cord blood was available for 645 singleton babies (49% Indigenous Australian) of women with NGT (n = 129), GDM (n = 419) and type 2 diabetes (n = 97). Cord glucose, triacylglycerol, HDL-cholesterol, C-reactive protein (CRP) and C-peptide were measured. Multivariable logistic and linear regression were used to assess the associations between cord blood metabolic markers and the outcomes of birthweight z score, sum of skinfold thickness (SSF), being large for gestational age (LGA) and percentage of body fat. Pathway analysis assessed whether cord markers mediated the associations between maternal and neonatal adiposity., Results: Elevated cord C-peptide was significantly associated with increasing birthweight z score (β 0.57 [95% CI 0.42, 0.71]), SSF (β 0.83 [95% CI 0.41, 1.25]), percentage of body fat (β 1.20 [95% CI 0.69, 1.71]) and risk for LGA [OR 3.14 [95% CI 2.11, 4.68]), after adjusting for age, ethnicity and diabetes type. Cord triacylglycerol was negatively associated with birthweight z score for Indigenous Australian women only. No associations between cord glucose, HDL-cholesterol and CRP >0.3 mg/l (2.9 nmol/l) with neonatal outcomes were observed. C-peptide mediated 18% (95% CI 13, 36) of the association of maternal BMI with LGA and 11% (95% CI 8, 17) of the association with per cent neonatal fat., Conclusions/interpretation: Cord blood C-peptide is an important mediator of the association between maternal and infant adiposity, across the spectrum of maternal glucose tolerance.

Background: Relative to the oral contraceptive pill, uptake of long-acting reversible contraceptive methods (LARCs) in Australia continues to be lower than might be suggested by the evidence on their clinical and economic benefits., Aim: To undertake a critical appraisal of published economic evaluations of LARCs to assess the generalisability of their results to the Australian healthcare context., Materials and Methods: A search of the literature was conducted to identify studies of economic evaluations of LARCs using the Medline, Embase and PubMed databases. The quality of the studies was evaluated using the Consolidated Health Economic Evaluation Reporting Standards (CHEERS) checklist., Results: A total of 1009 citations were screened, from which 20 papers, typically reporting the cost per pregnancy avoided, were reviewed. The overall quality of the studies varied but was generally poor (average score of 62/100). To aid comparisons, results have been grouped under the headings IUS (all hormonal intrauterine systems), IUDs (all non-hormonal intrauterine devices), injectables (all contraceptive injections) and implants (all subdermal contraceptive implants). Overall, the results indicated that LARCs were more effective and less costly than oral contraceptives., Conclusions: Despite evidence that LARCs represent value for money, limitations in study quality and approaches must be taken into account when applying these results to Australia. Differences in healthcare settings aside, LARCs may also have benefits beyond their effect on pregnancy that might be captured in broader analyses, such as cost-benefit analyses using willingness to pay methods. These would capture benefits beyond health, which seem to be particularly relevant to contraception., (© 2018 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.)

Objective: To design and establish reliability of a local stroke audit tool by engaging allied health clinicians within a privately funded hospital., Methods: Design: Two-stage study involving a modified Delphi process to inform stroke audit tool development and inter-tester reliability., Participants: Allied health clinicians., Interventions: A modified Delphi process to select stroke guideline recommendations for inclusion in the audit tool. Reliability study: 1 allied health representative from each discipline audited 10 clinical records with sequential admissions to acute and rehabilitation services., Main Outcome Measures: Recommendations were admitted to the audit tool when 70% agreement was reached, with 50% set as the reserve agreement. Inter-tester reliability was determined using intra-class correlation coefficients (ICCs) across 10 clinical records., Results: Twenty-two participants (92% female, 50% physiotherapists, 17% occupational therapists) completed the modified Delphi process. Across 6 voting rounds, 8 recommendations reached 70% agreement and 2 reached 50% agreement. Two recommendations (nutrition/hydration; goal setting) were added to ensure representation for all disciplines. Substantial consistency across raters was established for the audit tool applied in acute stroke (ICC .71; range .48 to .90) and rehabilitation (ICC.78; range .60 to .93) services., Conclusions: Allied health clinicians within a privately funded hospital generally agreed in an audit process to develop a reliable stroke audit tool. Allied health clinicians agreed on stroke guideline recommendations to inform a stroke audit tool. The stroke audit tool demonstrated substantial consistency supporting future use for service development. This process, which engages local clinicians, could be adopted by other facilities to design reliable audit tools to identify local service gaps to inform changes to clinical practice., (© 2018 John Wiley & Sons, Ltd.)

Background: Sudden cardiac death among children and young adults is a devastating event. We performed a prospective, population-based, clinical and genetic study of sudden cardiac death among children and young adults., Methods: We prospectively collected clinical, demographic, and autopsy information on all cases of sudden cardiac death among children and young adults 1 to 35 years of age in Australia and New Zealand from 2010 through 2012. In cases that had no cause identified after a comprehensive autopsy that included toxicologic and histologic studies (unexplained sudden cardiac death), at least 59 cardiac genes were analyzed for a clinically relevant cardiac gene mutation., Results: A total of 490 cases of sudden cardiac death were identified. The annual incidence was 1.3 cases per 100,000 persons 1 to 35 years of age; 72% of the cases involved boys or young men. Persons 31 to 35 years of age had the highest incidence of sudden cardiac death (3.2 cases per 100,000 persons per year), and persons 16 to 20 years of age had the highest incidence of unexplained sudden cardiac death (0.8 cases per 100,000 persons per year). The most common explained causes of sudden cardiac death were coronary artery disease (24% of cases) and inherited cardiomyopathies (16% of cases). Unexplained sudden cardiac death (40% of cases) was the predominant finding among persons in all age groups, except for those 31 to 35 years of age, for whom coronary artery disease was the most common finding. Younger age and death at night were independently associated with unexplained sudden cardiac death as compared with explained sudden cardiac death. A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained sudden cardiac death in which genetic testing was performed. During follow-up, a clinical diagnosis of an inherited cardiovascular disease was identified in 13% of the families in which an unexplained sudden cardiac death occurred., Conclusions: The addition of genetic testing to autopsy investigation substantially increased the identification of a possible cause of sudden cardiac death among children and young adults. (Funded by the National Health and Medical Research Council of Australia and others.).

The Dundee Ready Education Environment Measure, Clinical Teaching Effectiveness Instrument, and Clinical Learning Environment Inventory were completed by 548 undergraduate students (54.5% response rate) enrolled in eight health professional bachelor degree courses. Regression analysis was used to investigate the significant predictors of the Clinical Teaching Effectiveness Instrument with the Dundee Ready Education Environment Measure and Clinical Learning Environment Inventory subscales as independent variables. The results indicated that the Dundee Ready Education Environment Measure and Clinical Learning Environment Inventory Actual version subscale scores explained 44% of the total variance in the Clinical Teaching Effectiveness Instrument score. The Dundee Ready Education Environment Measure subscale Academic Self-Perception explained 1.1% of the variance in the Clinical Teaching Effectiveness Instrument score. The Clinical Learning Environment Inventory Actual subscales accounted for the following variance percentages in the Clinical Teaching Effectiveness Instrument score: personalization, 1.1%; satisfaction, 1.7%; task orientation, 5.1%; and innovation, 6.2%. Aspects of the clinical learning environment appear to be predictive of the effectiveness of the clinical teaching that students experience. Fieldwork educator performance might be a significant contributing factor toward student skill development and practitioner success., (© 2013 Wiley Publishing Asia Pty Ltd.)

This study presents morphological and molecular data on hookworms from the Australian fur seal Arctocephalus pusillus doriferus (Schreber) currently identified in Australian waters as Uncinaria hamiltoni Baylis, 1933. Additional specimens from the Australian sea lion Neophoca cinerea (Péron) and the New Zealand fur seal Arctocephalus forsteri (Lesson) from Australia, and the Southern elephant seal Mirounga leonina (Linnaeus) from Antarctica, were included. Using the internal transcribed spacer (ITS), hookworms from A. p. doriferus, N. cinerea and A. forsteri were found to be genetically similar but distinct from Uncinaria spp. found in M. leonina from Antarctica, as well as from Zalophus californianus (Lesson) and Callorhinus ursinus (Linnaeus) from California. Few morphological differences were detected between these taxa.

Bacteria from the genus Mycoplasma are common inhabitants of the respiratory, gastrointestinal, and genital tracts of mammals. The understanding of the pathological significance of mycoplasmas in seals is poor, as few studies have utilized the specific culture techniques required to isolate these bacteria. The current study surveyed for the Mycoplasma species present in Australian fur seals (Arctocephalus pusillus doriferus) and investigated the association between infection and pathology. Mycoplasmas were found in the nasal cavities of 55/80 (69%) of apparently healthy individuals. Isolates from 18 individuals were investigated through 16S ribosomal RNA sequencing, and 3 species were identified: M. zalophi, M. phocae, and Mycoplasma sp. (GenBank no. EU714238.1), all of which had previously been isolated from Northern Hemisphere pinnipeds. In addition, mycoplasmas were isolated from the lungs of 4 out of 16 juveniles and 1 out of 5 adults sampled at necropsy. Isolates obtained were M. zalophi, Mycoplasma sp. EU714238.1, and M. phocicerebrale, but infection was not associated with lung pathology in these age classes. Inflammatory disease processes of the heart and/or lungs were present in 12 out of 32 (38%) aborted fetuses on microscopic examination. Predominant findings were interstitial pneumonia, pericarditis, and myocarditis. Mycoplasma phocicerebrale was isolated from the thymus of an aborted fetus, and 3 out of 11 (27%) fetuses with inflammatory heart or lung lesions were PCR-positive for Mycoplasma. In conclusion, several species of Mycoplasma are part of the normal flora of the nasal cavity of Australian fur seals, and some mycoplasmas may be associated with abortion in this species of seal.

The introduction of pathogens into populations of animals with no previous exposure to them and, therefore, no immunologic protection, can result in epizootics. Predicting the susceptibility of populations to infectious diseases is crucial for their conservation and management. Australian fur seals (Arctocephalus pusillus doriferus) have a relatively small population size, a restricted range, and form dense aggregations. These factors make this species vulnerable to epizootics of infectious diseases that spread by direct animal-to-animal contact. Blood samples were collected from 125 adult female Australian fur seals between 2007 and 2009 and tested for exposure to selected pathogens. The testing protocol was based on pathogens important to marine mammal health or those significant to public and livestock health. No antibodies were detected to morbilliviruses, influenza A viruses, six Leptospira serovars, Mycobacterium tuberculosis-complex species, or Toxoplasma gondii. Overall antibody prevalence to an unidentified Brucella sp. was 57% but varied significantly (P<0.02) between 2007 (74%) and 2008 (53%). The findings indicate Brucella infection may be enzootic in the Australian fur seal population. Further investigations are required to isolate the bacteria and establish if infection results in morbidity and mortality. Australian fur seals remain vulnerable to the threat of introduced disease and should be managed and monitored accordingly.

Novel members of the bacterial genus Brucella have recently emerged as pathogens of various marine mammal species and as potential zoonotic agents. We investigated the epizootiology of Brucella infection in Australian fur seals (Arctocephalus pusillus doriferus) by establishing demographic and temporal variations in antibody prevalence, attempting isolation of the causative agent, and determining whether this potential pathogen is involved in frequent abortions observed in this pinniped species. Two competitive enzyme-linked immunosorbent assays (cELISAs), an indirect ELISA, and a fluorescence polarization assay (FPA) were used to test sera for Brucella antibodies. The FPA and cELISA proved suitable for use in this species. Significant differences in antibody prevalence were found between age classes of seals sampled between 2007 and 2009 at one colony. Pups sampled at this site (n=134) were negative for Brucella antibodies by all serologic tests but 17 of 45 (38%) of juveniles were antibody-positive. Antibody prevalence in adult females was significantly higher than in juveniles (P=0.044). Antibody prevalence for adult females between 2003 and 2009 varied significantly over time (P=0.011), and for individuals sampled between 2003 and 2005, the likelihood of pregnancy was greater in individuals positive for Brucella antibodies (P=0.034). Inflammatory lesions suggestive of infectious agents were found in 14 of 39 aborted Australian fur seal pups, but pathologic changes were not uniformly consistent for Brucella infection. Culture and PCR investigations on fetal tissues were negative for Brucella. Culture and PCR on selected fresh or frozen tissues from 36 juvenile and adult animals were also negative. We suspect that the prevalence of active infection with Brucella in Australian fur seals is low relative to antibody prevalence.

Dead in bed syndrome is a poorly understood cause of sudden death in young people with type 1 diabetes. The underlying cause remains unknown. One possible explanation may involve prolongation of the QT interval followed by a terminal malignant arrhythmia. Risk factors associated with QT interval prolongation include hypoglycemia and cardiac autonomic neuropathy. We sought to identify myocardial cellular changes and genetic influences that may contribute to the pathogenesis of dead in bed syndrome. Post-mortem reports between 1994 and 2006 from the 2 largest Departments of Forensic Medicine in Australia were reviewed for dead in bed syndrome cases. Post-mortem heart sections were immunohistochemically stained for collagen types I and III and connective tissue growth factor (CTGF). Genomic DNA was prepared from post-mortem samples, and genetic analysis was performed in the SCN5A, G6PC, PHOX2B, and CTGF genes. Twenty-two dead in bed syndrome cases were identified and staining of heart sections for collagen I and III, and CTGF showed no differences between dead in bed syndrome cases and controls. Genetic screening of SCN5A revealed 3 silent polymorphisms A29A, E1061E, and D1819D and 1 protein-changing variant H558R. No genetic variants were found in G6PC, PHOX2B, and CTGF, and dead in bed syndrome cases were not associated with the G-945C CTGF promoter polymorphism. In conclusion, this study is the first to investigate potential pathogenic mechanisms underlying the dead in bed syndrome in type 1 diabetes with the results substantially adding to knowledge of this condition. Understanding the causes and triggers of dead in bed syndrome will be critical in facilitating the identification of patients with type 1 diabetes at highest risk of developing sudden death., (Copyright 2010 Elsevier Inc. All rights reserved.)

Hereditary hearing loss is a heterogeneous condition at both the genetic and clinical levels. We have recruited an Australian family with dominant sensorineural nonsyndromic late onset hearing loss. The hearing loss typically begins in the second or third decade of life as a high frequency loss which progresses to a severe to profound loss by the sixth to seventh decade. All affected family members presented with concomitant vestibular dysfunction. Vertigo is a less common feature. The causative gene in this family was identified as COCH which lies within the DFNA9 interval. We identified a new point mutation, 253 T>A, in the coding region of the COCH gene, changing the isoleucine 109 to an asparagine (I109N). This is a non-conservative change of an amino acid that is identical in the human, mouse and chicken sequences. The mutation was identified in all affected individuals (n=13) and all were heterozygotes. Hearing loss in this family is clinically similar to that observed in ten other DFNA9 families. However, there are some differences in the age of onset and the extent of vestibular involvement. The remarkable clinical uniformity observed between DFNA9 families is intriguing especially in light of the great phenotypic variability observed with some of the other hearing loss genes. Hum Mutat 117:351, 2001., (Copyright 2001 Wiley-Liss, Inc.)