Inherited risk for autism through maternal and paternal lineage

BACKGROUND: Autism spectrum disorder (ASD) is highly familial, with a positively skewed male-to-female ratio that is purported to arise from the so-called female protective effect. A serious implication of a female protective effect is that familial ASD liability would be expected to aggregate asymptomatically in sisters of affected probands, who would incur elevated rates of ASD among their offspring. Currently, there exist no data on second-generation recurrence rates among families affected by ASD. METHODS: We analyzed data from the Swedish National Patient Register and the Multi-Generation Register for a cohort of children born between 2003 and 2012. ASD was ascertained in both the child and parental generations. RESULTS: Among 847,732 children, 13,103 (1.55%) children in the cohort were diagnosed with ASD. Among their maternal/paternal aunts and uncles, 1744 (0.24%) and 1374 (0.18%) were diagnosed with ASD, respectively. Offspring of mothers with a sibling(s) diagnosed with ASD had higher rates of ASD than the general population (relative risk, 3.05; 95% confidence interval, 2.52-3.64), but not more than would be predicted for second-degree relatives within a generation, and only slightly more than was observed for fathers with siblings with ASD (relative risk, 2.08; 95% confidence interval, 1.53-2.67). Models adjusting for temporal trends and for psychiatric history in the parental generation did not alter the results. CONCLUSIONS: These findings establish a robust general estimate of ASD transmission risk for siblings of individuals affected by ASD, the first ever reported. Our findings do not suggest female protective factors as the principal mechanism underlying the male sex bias in ASD

Mindfulness-based cognitive therapy v. group psychoeducation for people with generalised anxiety disorder: randomised controlled trial

Background: Research suggests that an 8-week mindfulness-based cognitive therapy (MBCT) course may be effective for generalised anxiety disorder (GAD). Aims: To compare changes in anxiety levels among participants with GAD randomly assigned to MBCT, cognitive–behavioural therapy-based psychoeducation and usual care. Method: In total, 182 participants with GAD were recruited (trial registration number: CUHK_CCT00267) and assigned to the three groups and followed for 5 months after baseline assessment with the two intervention groups followed for an additional 6 months. Primary outcomes were anxiety and worry levels. Results: Linear mixed models demonstrated significant group × time interaction (F(4,148) = 5.10, P = 0.001) effects for decreased anxiety for both the intervention groups relative to usual care. Significant group × time interaction effects were observed for worry and depressive symptoms and mental health-related quality of life for the psychoeducation group only. Conclusions: These results suggest that both of the interventions appear to be superior to usual care for the reduction of anxiety symptoms

Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study

Objective:Familial recurrence risk is an important population-level measure of the combined genetic and shared familial liability of autism spectrumdisorder (ASD). Objectives were to estimate ASD recurrence risk among siblings and cousins by varying degree of relatedness and by sex.Method:This is a population-based cohort study of livebirths from 1998 to 2007 in California, Denmark, Finland, Israel, Sweden and WesternAustralia followed through 2011 to 2015. Subjects were monitored for an ASD diagnosis in their older siblings or cousins (exposure) and for their ASDdiagnosis (outcome). The relative recurrence risk was estimated for different sibling and cousin pairs, for each site separately and combined, and by sex.Results:During follow-up, 29,998 cases of ASD were observed among the 2,551,918 births used to estimate recurrence in ASD and 33,769 cases ofchildhood autism (CA) were observed among the 6,110,942 births used to estimate CA recurrence. Compared with the risk in unaffected families, therewas an 8.4-fold increase in the risk of ASD following an older sibling with ASD and a 17.4-fold increase in the risk of CA following an older sibling withCA. A 2-fold increase in the risk for cousin recurrence was observed for the 2 disorders. There also was a significant difference in sibling ASD recurrencerisk by sex.Conclusion:The present estimates of relative recurrence risks for ASD and CA will assist clinicians and families in understanding autism risk in thecontext of other families in their population. The observed variation by sex underlines the need to deepen the understanding of factors influencing ASD familial risk.</p

Fine Mapping of the NRG1 Hirschsprung's Disease Locus

The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability suggest the involvement of additional genes in the disease. Through a genome-wide association study, we uncovered a ∼350 kb HSCR-associated region encompassing part of the neuregulin-1 gene (NRG1). To identify the causal NRG1 variants contributing to HSCR, we genotyped 243 SNPs variants on 343 ethnic Chinese HSCR patients and 359 controls. Genotype analysis coupled with imputation narrowed down the HSCR-associated region to 21 kb, with four of the most associated SNPs (rs10088313, rs10094655, rs4624987, and rs3884552) mapping to the NRG1 promoter. We investigated whether there was correlation between the genotype at the rs10088313 locus and the amount of NRG1 expressed in human gut tissues (40 patients and 21 controls) and found differences in expression as a function of genotype. We also found significant differences in NRG1 expression levels between diseased and control individuals bearing the same rs10088313 risk genotype. This indicates that the effects of NRG1 common variants are likely to depend on other alleles or epigenetic factors present in the patients and would account for the variability in the genetic predisposition to HSCR

Vailidity and reliability of traditional Chinese ICOAP questionnaire for Knee Osteoarthritis

The data aimed to test the psychometric properties of traditional Chinese Intermittent and Constant Osteoarthritis Pain (ICOAP) questionnaire for Knee Osteoarthritis. The Statistical Package for Social Sciences (SPSS) software (version 21.0) was used to create the dataset. The age was grouped into three bands (1=50-69; 2=60-69; 3=70-78). The abbreviations show as follows: (1). ICOAP= Intermittent and Constant Osteoarthritis and Pain ; (2). v1=first time data collection; (3). v2=second time data collection; (4). SF-12=The Chinese Short form of Health Survey; (5). PCS=Physical Component Summary; (6). MCS=Mental Component Summary

Measuring health-related social deprivation in small area: development of an index and examination of its association with cancer mortality

BACKGROUND: The small-area deprivation indices are varied across countries due to different social context and data availability. Due to lack of chronic disease-related social deprivation index (SDI) in Hong Kong, China, this study aimed to develop a new SDI and examine its association with cancer mortality. METHODS: A total of 14 socio-economic variables of 154 large Tertiary Planning Unit groups (LTPUGs) in Hong Kong were obtained from 2016 population by-census. LTPUG-specific all-cause and chronic condition-related mortality and chronic condition inpatient episodes were calculated as health outcomes. Association of socio-economic variables with health outcomes was estimated for variable selection. Candidates for SDI were constructed with selected socio-economic variables and tested for criterion validity using health outcomes. Ecological association between the selected SDI and cancer mortality were examined using zero-inflated negative binomial regression. RESULTS: A chronic disease-related SDI constructed by six area-level socio-economic variables was selected based on its criterion validity with health outcomes in Hong Kong. It was found that social deprivation was associated with higher cancer mortality during 2011–2016 (most deprived areas: incidence relative risk [IRR] = 1.40, 95% confidence interval [CI]: 1.27–1.55; second most deprived areas: IRR = 1.34, 95%CI: 1.21–1.48; least deprived areas as reference), and the cancer mortality gap became larger in more recent years. Excess cancer death related to social deprivation was found to have increased through 2011–2016. CONCLUSIONS: Our newly developed SDI is a valid and routinely available measurement of social deprivation in small areas and is useful in resource allocation and policy-making for public health purpose in communities. There is a potential large improvement in cancer mortality by offering relevant policies and interventions to reduce health-related deprivation. Further studies can be done to design strategies to reduce the expanding health inequalities between more and less deprived areas. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12939-021-01545-9

Help-seeking and antibiotic prescribing for acute cough in a Chinese primary care population: a prospective multicentre observational study

Acute cough is a common reason to prescribe antibiotics in primary care. This study aimed to explore help-seeking and antibiotic prescribing for acute cough in Chinese primary care population. This is a prospective multicentre observational study that included adults presenting with acute cough. Clinicians recorded patients' presenting symptoms, examination findings and medication prescription. Patients completed symptom diaries for up to 28 days by charting their symptom severity and recovery. Adjusted binary logistic regression models identified factors independently associated with antibiotic prescription. Primary care clinicians (n=19) recruited 455 patients. A total of 321 patients (70.5%) returned their completed symptom diaries. Concern about illness severity (41.6%) and obtaining a prescription for symptomatic medications (45.9%), rather than obtaining a prescription for antibiotics, were the main reasons for consulting. Antibiotics were prescribed for 6.8% (n=31) of patients, of which amoxicillin was the most common antimicrobial prescribed (61.3%), as it was associated with clinicians' perception of benefit from antibiotic treatment (odds ratio (OR): 25.9, 95% confidence interval (CI): 6.7-101.1), patients' expectation for antibiotics (OR: 5.1, 95% CI: 1.7-11.6), anticipation (OR: 5.1, 95% CI: 1.6-15.0) and request for antibiotics (OR 15.7, 95% CI: 5.0-49.4), as well as the severity of respiratory symptoms (cough, sputum, short of breath and wheeze OR: 2.7-3.7, all P<0.05). There was a significant difference in antibiotic prescription rates between private primary care clinicians and public primary care clinicians (17.4 vs 1.6%, P=0.00). Symptomatic medication was prescribed in 98.0% of patients. Mean recovery was 9 days for cough and 10 days for all symptoms, which was not significantly associated with antibiotic treatment. Although overall antibiotic-prescribing rates were low, there was a higher rate of antibiotic prescribing among private primary care clinicians, which warrants further exploration and scope for education and interventio

Impacts of alcohol duty reductions on cardiovascular mortality among elderly Chinese: A 10-year time series analysis

Background: In March 2007, the Hong Kong Government halved its heavy excise taxes on beer and wine, and 1 year later, it eliminated all duties on these beverages. This study examines the impact of such duty reductions on cardiovascular disease (CVD)-related mortality among the elderly in Hong Kong. Methods: Box-Jenkins autoregressive integrated moving average intervention time series analyses were applied to monthly morality data from 2001 to 2010 to quantify the impacts of duty reduction and exemption on CVD death rates among those aged 65 years or older. Results: The alcohol duty reduction in March 2007 was associated with an estimated 13% increase (95% CI 2% to 24%) in CVD death rates among elderly men, after controlling for the other intervention, outlier, trends and seasonal variations. This was equivalent to an extra 11 CVD deaths per 100 000 elderly men each month. Much of the observed impacts on CVD death rates were found to have contributed only by that on ischaemic heart disease mortality (18% increase in rate for men (95% CI 4% to 34%); 15% increase for women (95% CI 0.4% to 31%)), not by mortality due to stroke or hypertension. The alcohol duty exemption on March 2008 was not found to have impacted the CVD death rates. Conclusions: The increase in CVD death rates among the Chinese elderly after alcohol duty reduction suggest that the purported beneficial effect of moderate alcohol use may not apply to certain Chinese populations, adding fuel to the ongoing debate on the risks and benefits of moderate alcohol consumption on mortality.link_to_subscribed_fulltex

Effect of facemasks on empathy and relational continuity: A randomised controlled trial in primary care

Background: There is limited evidence to support the use of facemasks in preventing infection for primary care professionals. Negative effects on communication has been suggested when the physician wears a facemask. As communication skills and doctor patient relationship are essential to primary care consultations, the effects of doctor's facemask wearing were explored. Method. A randomised controlled study was conducted in primary care to explore the effects of doctors wearing facemasks on patients' perception of doctors' empathy, patient enablement and patient satisfaction. Primary care doctors were randomized to mask wearing and non mask wearing clinical consultations in public primary care clinics in Hong Kong. Patients' views were gathered using the Consultation and Relational Empathy (CARE) Measure, Patient Enablement Instrument (PEI) and an overall satisfaction rating scale. The effects of face mask wearing were investigated using multilevel (hierarchical) modelling. Results: 1,030 patients were randomised to doctor-mask wearing consultations (n = 514) and non mask wearing consultations (n = 516). A significant and negative effect was found in the patients' perception of the doctors' empathy (CARE score reduction -0.98, p-value = 0.04). In the more established doctor-patient relationship, the effect of doctors' mask wearing was more pronounced (CARE score reduction -5.67, p-value = 0.03). Conclusion: This study demonstrates that when doctors wearing a facemask during consultations, this has a significant negative impact on the patient's perceived empathy and diminish the positive effects of relational continuity. Consideration should be taken in planning appropriate use of facemasks in infectious disease policy for primary care and other healthcare professionals at a national, local or practice level. Clinical trial registration. This trial was registered on Chinese Clinical Trial Register (ChiCTR). Registration no.: ChiCTR-TTRCC-12002519. URL: http://www.chictr.org/ en/proj/show.aspx?proj=3486. Due to administrative error, registration of trial did not take place until after the trial started on 1st August 2011 and registration number was released on 21st September 2012. © 2013 Wong et al.; licensee BioMed Central Ltd.link_to_subscribed_fulltex