Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

PURPOSE: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico. RESULTS: Nine patients with LI in five families were identified. There were six affected females. All patients (9/9) demonstrated eye lid abnormalities with eight patients showing lid margin abnormalities. Madarosis was present in only three individuals and corneal scarring was documented in two. All nine individuals carried biallelic TGM1 variants, either homozygously or as compound heterozygous. CONCLUSION: Ocular anomalies are common in individuals with TGM1-related LI. The occurrence of a variety of private or rare mutations hampers the identification of a genotype-phenotype correlation for ocular anomalies in this disorder.

Mapping the delivery of interventions for vaccine-preventable infections in pregnancy in Victoria, Australia.

BACKGROUND: Standard care for pregnant women includes universal screening for hepatitis B, and administration of influenza and pertussis vaccination to women and hepatitis B infant vaccination. This study explored how perinatal services relating to the prevention of these vaccine-preventable diseases are delivered to women and their infants in Victoria, Australia. METHODS: Two online surveys investigated service delivery for the prevention of influenza, pertussis and hepatitis B to identify barriers to optimal care during January-June 2021; (1) The Birthing Hospitals Survey captured facility-level information about service delivery for influenza and pertussis vaccination, and interventions to prevent mother-to-child-transmission of chronic hepatitis B (CHB); and (2) The Healthcare Providers Survey captured individual staff perceptions and knowledge in community and hospital settings. RESULTS: Thirty-four hospital unit managers (61%) completed The Birthing Hospitals Survey . One-hundred and forty participants completed The Healthcare Providers Survey . Half of the birthing hospitals provided influenza (50%) and pertussis (53%) vaccinations to pregnant women, and 53% provided an infectious diseases service for women with CHB. Barriers to optimal care delivery included reliance on pregnant woman's self-report to confirm influenza, pertussis vaccination and CHB status, lack of standardised reporting, inadequate workforce training, poor communication between services, and lack of guideline-based clinical care for mothers with CHB and their infants. Three hospitals reported 'stock out' of hepatitis B immunoglobulin (HBIG). CONCLUSION: Coordinated and standardised system and clinical care improvements are required to provide equitable care for pregnant women and their infants, including training and education for healthcare providers, improving data capture and communication among health services.

Uptake of perinatal immunoprophylaxis for infants born to women with a record of hepatitis B in Victoria (2009-2017).

BACKGROUND: Mother-to-child transmission (MTCT) of hepatitis B virus (HBV) remains one of the leading causes of transmission worldwide. An estimated 90 % of infants who are exposed to HBV and do not receive appropriate post exposure immunoprophylaxis will go on to develop chronic hepatitis B (CHB). In Australia, universal birth dose vaccination was adopted in 2000 and universal antenatal screening for hepatitis B was introduced in the 1990 s, however up to 10 % of women may have missed screening. There is no coordinated care or data collection that systematically reports the access to interventions to prevent mother-to-child transmission (PMTCT) for women with CHB. Therefore, the incidence rate of MTCT is unknown. METHODS: We conducted retrospective data linkage of perinatal records, public health notification and hospital admission data to identify women with a record of HBV infection who had given birth to a live infant(s) in Victoria between 2009 and 2017. We assessed uptake of birth dose vaccination and hepatitis B immunoglobulin (HBIG) and explored factors associated with administration of birth dose recorded as administered within 7 days. RESULTS: Among 690,052 live births, 6118 births (0.90 %) were linked to 4196 women with a record of HBV infection. 89.4 % of all Victorian infants (n = 616,879), and 96.8 % of infants linked to women with a positive record of CHB (n = 5,925) received birth dose within 7 days. Infants born in private hospitals had reduced odds of receiving birth dose when compared to public hospitals births (Victorian population, aOR = 0.67, 95 %CI = 0.66, 0.69; CHB linked records aOR = 0.17, 95 %CI = 0.11, 0.25). Of the 6118 infants linked to a positive maternal record of CHB, discrepant recording of maternal CHB status between the three datasets was identified in 72.4% of records and HBIG administration was recorded for only 2.3% of births. CONCLUSION: An approach that involves coordinated care and integrates data collection for women with CHB and their infants is required to support the elimination of MTCT of hepatitis B in Victoria.

Modelling jurisdictional disparities in the cascade of care for chronic hepatitis B in Australia: impact of treatment uptake on mortality.

OBJECTIVE: Investigate the cascade of care for chronic hepatitis B (CHB) and estimate impacts of increasing treatment uptake on attributable burden, according to jurisdiction. METHODS: A mathematical model of CHB in Australia was utilised, combined with notifiable disease and Medicare data. We estimated the proportion with CHB who were diagnosed, engaged in care and receiving treatment in each state/territory, and projected future mortality. RESULTS: The highest uptake of all measures was in New South Wales, however, the largest increase over time occurred in Northern Territory. No jurisdiction is due to meet 2022 targets of treatment uptake or mortality reduction. Previously declining mortality is predicted to plateau or increase in all jurisdictions except Northern Territory. The largest gap in the cascade of care was most commonly diagnosed individuals not engaged in care; however, in Victoria and Tasmania it was lack of diagnosis. CONCLUSIONS: Measures of the cascade of care varied substantially between jurisdictions; while all require improvements to reduce mortality, the specific gaps vary, as do potential impacts. IMPLICATIONS FOR PUBLIC HEALTH: Improving the cascade of care for CHB will require jurisdictionally tailored approaches. If improvements are not made, more deaths will occur due to CHB in most states and territories.

Women with hepatitis B: how mothers with chronic hepatitis B understand and experience the prevention of mother-to-child transmission interventions in Victoria, Australia.

BACKGROUND: Mother-to-child transmission (MTCT) of hepatitis B can be prevented with targeted interventions; however, MTCT continues to occur in Australia and globally. This qualitative research investigated how mothers with chronic hepatitis B (CHB) understand and experience interventions for the prevention of MTCT of CHB (PMTCT-CHB) in Victoria, Australia. METHODS: Semi-structured interviews were conducted with women with CHB. Participants were recruited through purposive and snowballing sampling. Interviews explored the women's experience of care for themselves and their infants aimed at PMTCT-CHB. Interviews were conducted over the phone with a qualified interpreter where required. The consolidated criteria for reporting qualitative research framework was used with data thematically analysed. This study was co-designed with mothers with CHB through a Community Advisory Group established for this research; coordinated and supported by LiverWELL and the researchers. RESULTS: Sixteen women were interviewed. Although most women understood the purpose of hepatitis B vaccination, there were significant gaps in information and education provided to mothers regarding PMTCT-CHB. These gaps included understanding of the extent of protection of vaccination, breastfeeding with CHB, post-vaccination testing for infants and lack of clarity of the woman's own hepatitis B status. There was notable fear and worry associated with hepatitis B transmission, with emotional support for mothers identified as a major gap in service delivery. Additionally, some women experienced stigma and discrimination due to their hepatitis B and refugee status. CONCLUSIONS: This study explored how mothers with CHB understand and experience interventions to prevent MTCT. Our findings reveal substantial gaps in delivery of information and care in the context of PMTCT-CHB in Victoria. Our findings can support development of evidence-based interventions and systems to improve healthcare for mothers with CHB and their infants, and thereby reduce possible CHB transmission and other negative outcomes, including stigma and discrimination.

Autoeficacia para el desempeño de actividad física en personas mayores / Self-efficacy for the performance of physical activity in the elderly

La autoeficacia, concebida como la creencia en poder realizar una tarea a pesar de las dificultades, es uno de los más consistentes predictores de iniciación y mantenimiento de la actividad física en las personas de todas las edades, pero más aún, en edad avanzada. Por lo tanto, esta revisión describe primero la autoeficacia y su distinción de construcciones similares e incorpora la autoeficacia dentro de la teoría sociocognitiva donde se describió por primera vez. Luego, se describen los principales abordajes de diferentes disciplinas para promover la autoeficacia, y, en consecuencia, la actividad física; poniendo foco en la evidencia disponible en el área de ciencias de la salud sobre cómo impulsar las fuentes de esta importante autoconfianza en las personas mayores.(AU)

Self-efficacy, conceived as the belief in being able to perform a task despite the difficulties, is one of the most consistent predictors of initiation and maintenance of physical activity in people of all ages, but even more, in the elderly. Therefore, this review first describes self-efficacy and its distinction from similar constructions and incorporates self-efficacy into the socio-cognitive theory where it was first described. Then, the main approaches of different disciplines to promote self-efficacy are described, and consequently, physical activity; focusing on the evidence available in the area of health sciences of how to boost the sources of this important self-confidence in the elderly.(AU)

A autoeficácia, concebida como a crença em ser capaz de realizar uma tarefa apesar das dificuldades, é um dos preditores mais consistentes de iniciação e manutenção da atividade física em pessoas de todas as idades, mas ainda mais nos idosos. Portanto, esta revisão descreve primeiro a autoeficácia e sua distinção de construções semelhantes e incorpora a autoeficácia na teoria sócio-cognitiva em que foi descrita pela primeira vez. Em seguida, são descritas as principais abordagens de diferentes disciplinas para promover a autoeficácia e, conseqüentemente, a atividade física; enfocando as evidências disponíveis na área das ciências da saúde sobre como aumentar as fontes dessa importante autoconfiança nas pessoas idosas.(AU)

The price tag of a potential cure for chronic hepatitis B infection: A cost threshold analysis for USA, China and Australia.

BACKGROUND & AIMS: We aim to capture the economic impact of a potential cure for chronic hepatitis B infection (CHB) in three countries (USA, China and Australia) with different health systems and epidemics to estimate the threshold drug prices below which a CHB cure would be cost-saving and/or highly cost-effective. METHODS: We simulated patients' hepatitis B progression, under three scenarios: current long-term suppressive antiviral therapy, functional cure defined as sustained undetectable HBsAg and HBV DNA, and partial cure defined as sustained undetectable HBV DNA only after a finite, 48-week treatment. RESULTS: Compared with current long-term antiviral therapy, a 30% effective functional cure among patients with and without cirrhosis in the USA, China and Australia would yield 17.50, 17.32 and 20.42 QALYs per patient, and 20.61, 20.42 and 20.62 QALYs per patient respectively. In financial terms, for CHB patients with and without cirrhosis, this would be cost-saving at a one-time treatment cost under US$11 944 and US$6694, respectively, in the USA, US$1744 and US$1001 in China, and US$12 063 and US$10 983 in Australia. CONCLUSION: We show that in purely economic terms, a CHB cure will be highly cost-effective even if effective in only 30% of treated patients. The threshold price for cure is largely determined by the current antiviral drug costs, since it will replace a daily antiviral pill that is inexpensive and effective, although not curative. The likely need for combination therapies to achieve cure will also present cost challenges. While cost-effectiveness is important, it cannot be the only consideration, as cure will provide many benefits in addition to reduced liver disease and HCC, including eliminating the need for a long-term daily pill and reducing stigma often associated with chronic viral infection.

Maternal Vaccination and Infant Influenza and Pertussis.

BACKGROUND AND OBJECTIVES: Infant influenza and pertussis disease causes considerable morbidity and mortality worldwide. We examined the effectiveness of maternal influenza and pertussis vaccines in preventing these diseases in infants. METHODS: This inception cohort study comprised women whose pregnancies ended between September 1, 2015, and December 31, 2017, in Victoria, Australia. Maternal vaccination status was sourced from the Victorian Perinatal Data Collection and linked to 5 data sets to ascertain infant outcomes and vaccination. The primary outcome of interest was laboratory-confirmed influenza or pertussis disease in infants aged <2 months, 2 to <6 months, and <6 months combined. Secondary outcomes included infant hospitalization (emergency presentation or admission) and death. Risk ratios and 95% confidence intervals (CIs) were estimated by Poisson regression. Vaccine effectiveness (VE) was estimated as (1 minus the risk ratio) x 100%. RESULTS: Among 186 962 pregnant women, 85 830 (45.9%) and 128 060 (68.5%) were vaccinated against influenza and pertussis, respectively. There were 175 and 51 infants with laboratory-confirmed influenza and pertussis disease, respectively. Influenza VE was 56.1% (95% CI, 23.3% to 74.9%) for infants aged <2 months and 35.7% (2.2% to 57.7%) for infants aged 2 to <6 months. Pertussis VE was 80.1% (95% CI, 37.1% to 93.7%) for infants aged <2 months and 31.8% (95% CI, -39.1% to 66.6%) for infants aged 2 to <6 months. CONCLUSIONS: Our study provides evidence of the direct effectiveness of maternal influenza and pertussis vaccination in preventing these diseases in infants aged <2 months. The findings strengthen the importance of maternal vaccination to prevent these diseases in infants.

Epidemiology of chronic hepatitis B and C in Victoria, Australia: insights and impacts from enhanced surveillance.

OBJECTIVE: To assess the impact of an enhanced viral hepatitis surveillance program on data completeness and on epidemiological assessment of affected populations. METHODS: Notified cases of non-acute hepatitis B and C were analysed to determine demographic characteristics and risk factors during the period prior to July 2015-June 2016, and during enhanced surveillance of the period July 2016-June 2017, during which time doctors were contacted for information about new diagnoses. RESULTS: During the enhanced period, completeness for country of birth and Indigenous status doubled for both hepatitis B and hepatitis C, from 18-37% to 48-65%. The incidence ratio of hepatitis C among Aboriginal and Torres Strait Islander people increased from eight-fold to 11.4-fold, and the proportion of hepatitis B cases reported as born in China and Vietnam relative to other countries increased. New data fields identified that 12% of hepatitis C diagnoses occurred in a correctional facility, and 2% of hepatitis B cases were healthcare workers. CONCLUSIONS: Improved data completeness highlighted the underlying epidemiology of chronic viral hepatitis, demonstrating the increased burden of infection among specific priority populations. Implications for public health: Enhanced surveillance provides greater insight into the epidemiology of chronic viral hepatitis, identifying groups at risk and opportunities for public health action.

Modeling Progress Toward Elimination of Hepatitis B in Australia.

BACKGROUND AND AIMS: Chronic hepatitis B (CHB) is a significant global health concern, and the most prevalent blood-borne virus in Australia. World Health Organization (WHO) member states have committed to global elimination, with targets to diagnose 90% of people living with CHB, treat 80% of those eligible, and reduce attributable deaths by 65% by the year 2030. Australia has committed to national targets of 80% diagnosed, 20% on treatment, and a 30% reduction in deaths by 2022. APPROACH AND RESULTS: We constructed and implemented a mathematical model to estimate the burden of CHB incorporating vaccination, phases of infection, cirrhosis progression, and mortality attributed to decompensated cirrhosis and hepatocellular carcinoma and examined the population-level impact of antiviral therapy. Diversity was integrated according to migration patterns, CHB prevalence by country of birth, Indigenous status, and age. Modelled outcomes were subjected to multivariate uncertainty analysis. Of the estimated 221,420 people living with CHB in Australia in 2017, 68% were diagnosed and 8.7% were receiving treatment (less than one-third of those estimated to be eligible). Based on current trends, the proportion of people living with CHB who have been diagnosed will reach 71% by 2022 and 81% by 2030, and treatment uptake will rise to 11.2% by 2022 and 12.9% by 2030, resulting in a 5.7% reduction in CHB-attributable deaths from 2015 to 2030. CHB treatment has prevented approximately 2,300 deaths in Australia between 2000 and 2017. CONCLUSIONS: Australia is not on track to meet local and global targets regarding CHB. Comprehensive and regularly updated modelling approaches accounting for diversity within the population are a useful tool to measure progress and impact of interventions, and quantify further improvements required to meet elimination goals.

[Latex allergy self-report in medical students: prevalence and associated factors]. / Autorreporte de alergia al látex en estudiantes de medicina: prevalencia y factores asociados.

BACKGROUND: Prevalence of latex allergy in medical students is not known. OBJECTIVE: To determine the prevalence of self-reported latex allergy and associated factors in medical students. METHODS: Cross-sectional, analytical study of students with or without self-reported latex allergy. By means of a structured questionnaire, past personal and family history of allergic disease, time and frequency of exposure to latex gloves and symptoms after exposure to products or foods associated with latex allergy were inquired. Logistic regression models were carried out. RESULTS: Out of 854 subjects, 431 (50.5%) were females. Median age was 21 years. Overall prevalence of latex allergy was 4.3% (95% CI = 3.1 to 5.9). Associated risk factors were age (OR = 1.37; 95% CI = 1.05 to 1.79), personal history of atopic dermatitis (OR = 7.32; 95% CI = 3.14 to 17.08), use of gloves ≥ 15/week (OR = 2.59; 95% CI = 1.17 to 5.76), use of latex products (OR = 5.76; 95% CI = 2.15 to 15.49) and fruit allergy (OR = 3.24; 95% CI = 1.27 t o8.27). CONCLUSION: Four out of a hundred students reported latex allergy. Age, personal history of atopic dermatitis, higher frequency of exposure to latex gloves and history of fruit allergy were risk factors for self-report latex allergy.

Antecedentes: La prevalencia de la alergia al látex se desconoce en los estudiantes de medicina. Objetivo: Determinar prevalencia y factores asociados con autorreporte de alergia al látex en estudiantes de medicina. Métodos: Estudio transversal de estudiantes con o sin autorreporte de alergia al látex. Mediante cuestionario estructurado se indagó historia personal y familiar de enfermedad alérgica; tiempo y frecuencia de exposición a guantes de látex y síntomas tras la exposición a productos o alimentos relacionados con alergia al látex. Se realizaron modelos de regresión logística. Resultados: De 854 sujetos, 431 (50.5 %) fueron mujeres. La mediana de edad fue de 21 años. La prevalencia global de alergia al látex fue 4.3 % (IC 95 % = 3.1 a 5.9). Los factores de riesgo relacionados fueron edad (RM = 1.37; IC 95 % = 1.05 a 1.79), historia personal de dermatitis atópica (RM = 7.32; IC 95 % = 3.14 a 17.08), uso de guantes ≥ 15/semana (RM = 2.59; IC 95 % = 1.17 a 5.76), uso de productos con látex (RM = 5.76; IC 95 % = 2.15 a 15.49) y alergia a frutas (RM = 3.24; IC 95 % = 1.27 a 8.27). Conclusión: Cuatro de cada 100 estudiantes reportaron alergia al látex. La edad, la historia personal de dermatitis atópica, la mayor frecuencia de exposición a guantes de látex y antecedente de alergia a frutos fueron factores de riesgo.

[Self-reported prevalence of latex allergy and associated factors in healthcare workers]. / Prevalencia de autorreporte de alergia al látex y factores asociados en trabajadores de la salud.

BACKGROUND: In our country, the prevalence of latex allergy in health personnel has rarely been studied. OBJECTIVE: To determine the prevalence and associated factors to self-reported latex allergy in health care workers. METHODS: A cross-sectional study was conducted among 1,292 health care workers of a second level hospital. All workers were included and they were required to answer a structured questionnaire aimed at identifying latex allergy, atopic personal and family history, exposure to latex gloves and surgical background. Odds ratio (OR) and 95 % confidence interval (95 % CI) were estimated using regression logistic to investigate factors associated to latex allergy. RESULTS: The female to male ratio was 2.4:1. The men age 38.4 ± 11.6 years. The prevalence of latex allergy auto-reported was 9.7 %, with a confidence interval of 95 % (95 % CI) 8.1 %-11.3 %. There was no statistical difference by workplace (p = 0.508). Factors associated with latex allergy included female gender (OR = 1.68; 95 % CI: 1.03-2.73, p = 0.037), personal history of atopy (OR = 4.82; 95 % CI: 3.19-7.26, p < 0.0001), family history of atopic dermatitis (OR = 4.33, 95 % CI: 1.20-4.41) and history of allergy to fruits (OR = 4.33; 95 % CI: 2.62-7.14, p < 0.0001). CONCLUSIONS: Up to 10 out to 100 health workers may have latex allergy. The main factors associated with latex allergy in this study were: being a female, personal or familiar atopy and allergy to fruits.

Antecedentes: pocas veces ha sido estudiada la prevalencia de alergia al látex en personal de la salud en México. Objetivo: determinar la prevalencia de autorreporte de alergia al látex y los factores asociados en trabajadores de la salud. Métodos: estudio trasversal de 1292 trabajadores de la salud de un hospital de segundo nivel, a quienes se les aplicó un cuestionario estructurado para identificar alergia al látex, historia personal y familiar de atopia, exposición a guantes de látex y antecedente de cirugías. La búsqueda de asociaciones entre variables se realizó mediante regresión logística. Se calcularon razones de momios (RM) e intervalo de confianza a 95 % (IC 95 %) Resultados: la relación mujer:hombre fue de 2.4:1. Edad media de 38.4 ± 11.6 años. La prevalencia de alergia al látex fue de 9.7 %, IC 95 %, 8.1-11.3 %. No hubo diferencia estadística por área laboral (p = 0.508). Los factores asociados con la alergia al látex fueron sexo femenino (RM = 1.68; IC 95 %, 1.03-2.73), historia personal de atopia (RM = 4.82; IC 95 %, 3.19-7.26), historia familiar de dermatitis atópica (RM = 4.33; IC 95 %, 1.20-4.41) e historia de alergia a frutos (RM = 2.30; IC 95 %, 2.62-7.14). Conclusiones: hasta 10 % los trabajadores de la salud podría presentar alergia al látex; los principales factores asociados fueron sexo femenino, atopia personal o familiar y alergia a frutos.

Genotoxic Effect in Autoimmune Diseases Evaluated by the Micronucleus Test Assay: Our Experience and Literature Review.

Autoimmune diseases (AD) are classified into organ-specific, systemic, and mixed; all forms of AD share a high risk for cancer development. In AD a destructive immune response induced by autoreactive lymphocytes is started and continues with the production of autoantibodies against different targets; furthermore apoptosis failure and loss of balance in oxidative stress as a consequence of local or systemic inflammation are common features seen in AD as well. Micronucleus (MN) assay can be performed in order to evaluate loss of genetic material in a clear, accurate, fast, simple, and minimally invasive test. The MN formation in the cytoplasm of cells that have undergone proliferation is a consequence of DNA fragmentation during mitosis and the appearance of small additional nuclei during interphase. The MN test, widely accepted for in vitro and in vivo genotoxicity research, provides a sensitive marker of genomic damage associated to diverse conditions. In here, we present a review of our work and other published papers concerning genotoxic effect in AD, identified by means of the MN assay, with the aim of proposing this tool as a possible early biomarker for genotoxic damage, which is a consequence of disease progression. Additionally this biomarker could be used for follow-up, to asses genome damage associated to therapies.

Prevalence of Peanut, Tree Nut, Sesame, and Seafood Allergy in Mexican Adults.

OBJECTIVE: To identify the prevalence of perceived and probable allergic reactions to peanuts, tree nuts, sesame seed, or seafood and its association with the personal history of allergic disease. METHODS: A cross-sectional study was performed in four cities of the metropolitan area of Guadalajara, located in western Mexico. Through sampling by gender and age, 1,126 subjects were included. Using a structured questionnaire, we investigated: (i) history of atopic disease, (ii) perception of allergic reaction after food intake, and (iii) probable allergic reaction to peanuts, tree nuts, sesame, or seafood. Prevalence and 95% confidence intervals were calculated. A multivariate analysis of factors associated to perceived and probable allergic reactions to food was performed by logistic regression. RESULTS: Men were 49.8%; mean age was 28.1 years; personal history of atopic disease included: allergic rhinitis (6.9%), asthma (6.8%), and atopic dermatitis (3.8%). Prevalence of perceived and probable food allergy was, respectively: pecan 0.4 and 0.3%; peanut 0.6 and 0.6%; sesame 0.1 and 0.1%; shellfish 4.2 and 4.0% (mainly shrimp); mollusk 0.8 and 0.7%; fish 1.4 and 1.2%. Asthma was significantly associated with perceived and probable allergy to pecans, peanuts, fish, or seafood. Atopic dermatitis was associated with perceived and probable allergic reaction to sea snail, seafood, shellfish, or mollusks. Finally, allergic rhinitis was associated with allergy to shrimp and crustaceans. CONCLUSIONS: This study shows that the prevalence of peanut, tree nut, sesame seed, and seafood allergy in this Mexican population is similar to that reported in developed countries.