Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were ...identified through whole-exome sequencing. All affected individuals were found to share a core phenotype of intellectual disability and hypotonia, and many had seizures and showed brain atrophy and white-matter changes on neuroimaging. Minor non-specific facial dysmorphism was also noted in some individuals, including multiple older children who developed coarse features similar to those of storage disorders. TBCK has been shown to regulate the mammalian target of rapamycin (mTOR) signaling pathway, which is also stimulated by exogenous leucine supplementation. TBCK was absent in cells from affected individuals, and decreased phosphorylation of phospho-ribosomal protein S6 was also observed, a finding suggestive of downregulation of mTOR signaling. Lastly, we demonstrated that activation of the mTOR pathway in response to L-leucine supplementation was retained, suggesting a possible avenue for directed therapies for this condition.
Aflatoxin is a human health threat in many developing countries. This study examines Kenyan milk consumers’ behaviour toward aflatoxin by way of choice experiments. Further, the willingness to pay ...for different types of milk and aflatoxin status awareness was assessed. Five attributes were selected to describe milk products: milk processing technique, fat content, packaging, price and aflatoxin-free certification.
Results indicate that awareness of aflatoxin is high, and that consumers are willing to pay a significant premium for milk that is certified as aflatoxin-free. Results also show, however, that the substantial majority does not know how to avoid aflatoxin-contaminated milk. The results indicate a great need for further education and awareness-raising programs throughout the Kenyan dairy value chain, and a potential for market-based solutions to aflatoxin control in milk.
Aflatoxin is a human health threat concern in many developing countries. This study examines Kenyan milk consumers’ behaviour toward aflatoxin by way of choice experiments. Further, willingness to ...pay for different types of milk and aflatoxin status awareness were assessed. Four attributes were selected to describe milk products: smell, colour, price and aflatoxin-free certification.
Results indicate that awareness of aflatoxin is relatively high, and that consumers are willing to pay a significant premium for milk that is certified as aflatoxin-free. Results also show, however, that the substantial majority does not know how to avoid aflatoxin-contaminated milk. The results indicate a great need for further education and awareness-raising programs throughout the Kenyan dairy value chain, and a potential for market-based solutions to aflatoxin control in milk.
Aflatoxin is a human health threat concern in many developing countries. This study examines Kenyan milk consumers' behaviour toward aflatoxin by way of choice experiments. Further, willingness to ...pay for different types of milk and aflatoxin status awareness were assessed. Four attributes were selected to describe milk products: smell, colour, price and aflatoxin-free certification. Results indicate that awareness of aflatoxin is relatively high, and that consumers are willing to pay a significant premium for milk that is certified as aflatoxin-free. Results also show, however, that the substantial majority does not know how to avoid aflatoxin-contaminated milk. The results indicate a great need for further education and awareness-raising programs throughout the Kenyan dairy value chain, and a potential for market-based solutions to aflatoxin control in milk.
Background Brucellosis is widespread in Ethiopia with variable reported prevalence depending on the geographical area, husbandry practices and animal species. However, there is limited information on ...the disease prevalence amongst pastoral communities, whose life is intricately linked with their livestock. Methodology We conducted an integrated human-animal brucellosis sero-surveillance study in two adjacent pastoral regions, Afar and Somali region (SRS). This cross-sectional study included 13 woredas (districts) and 650 households. Blood samples were collected from people and livestock species (cattle, camel, goats and sheep). Sera were analyzed with C-ELISA for camels and shoats (sheep and goats), with I-ELISA for cattle and IgG ELISA for humans. Descriptive and inferential statistics analyses were performed. Results A total of 5469 sera were tested by ELISA. Prevalence of livestock was 9.0% in Afar and 8.6% in SRS (ranging from 0.6 to 20.2% at woreda level). In humans, prevalence was 48.3% in Afar and 34.9% in SRS (ranging from 0.0 to 74.5% at woreda level). 68.4% of all households in Afar and 57.5% of households in SRS had at least one animal reactor. Overall, 4.1% of animals had a history of abortion. The proportion of animals with abortion history was higher in seropositive animals than in seronegative animals. Risk factor analysis showed that female animals were significantly at higher risk of being reactors (p = 0.013). Among the species, cattle had the least risk of being reactors (p = 0.014). In humans, there was a clear regional association of disease prevalence (p = 0.002). The older the people, the highest the odds of being seropositive. Conclusion Brucellosis is widespread in humans and animals in pastoral communities of Afar and SRS with the existence of geographical hotspots. No clear association was seen between human and particular livestock species prevalence, hence there was no indication as whether B. abortus or B. melitensis are circulating in these areas, which warrants further molecular research prior to embarking on a national control programs. Such programs will need to be tailored to the pastoral context.
In small studies and cases series, a history of tuberculosis has been associated with both airflow obstruction, which is characteristic of chronic obstructive pulmonary disease, and restrictive ...patterns on spirometry. The objective of the present study was to assess the association between a history of tuberculosis and airflow obstruction and spirometric abnormalities in adults.The study was performed in adults, aged 40 years and above, who took part in the multicentre, cross-sectional, general population-based Burden of Obstructive Lung Disease study, and had provided acceptable post-bronchodilator spirometry measurements and information on a history of tuberculosis. The associations between a history of tuberculosis and airflow obstruction and spirometric restriction were assessed within each participating centre, and estimates combined using meta-analysis. These estimates were stratified by high- and low/middle-income countries, according to gross national income.A self-reported history of tuberculosis was associated with airflow obstruction (adjusted odds ratio 2.51, 95% CI 1.83-3.42) and spirometric restriction (adjusted odds ratio 2.13, 95% CI 1.42-3.19).A history of tuberculosis was associated with both airflow obstruction and spirometric restriction, and should be considered as a potentially important cause of obstructive disease and low lung function, particularly where tuberculosis is common.
Surgery is common in older adults, so geriatric and surgical providers need to develop expertise in the care of older adults undergoing surgery. The Co‐management of Older Operative Patients En Route ...Across Treatment Environments (CO‐OPERATE) program is a clinical and educational collaboration between geriatrics and several surgical specialties at Veterans Affairs Health Care Connecticut. Individuals in CO‐OPERATE are co‐managed during the pre‐, peri‐, and postoperative periods. General surgery, urology, vascular surgery, orthopedics, cardiothoracic surgery and neurosurgery all participate in the program, with geriatrics expertise provided by a geriatrician, geriatric nurse practitioner and a geriatric clinical pharmacist. In the initial 3 years, there were 211 CO‐OPERATE participants; 31% were evaluated preoperatively, and 62% of the individuals seen preoperatively were seen in clinic. There was a median of three recommendations per consultation. At discharge, 56% returned to the community. Individuals seen preoperatively were more likely to return to the community (63%) than those seen after surgery (50%, P = .10). Geriatrics co‐management with a variety of surgical specialties is feasible and may be associated with higher rates of discharge back to the community.
Evidence supporting the association of COPD or airflow obstruction with use of solid fuels is conflicting and inconsistent.
To assess the association of airflow obstruction with self-reported use of ...solid fuels for cooking or heating.
We analysed 18,554 adults from the BOLD study, who had provided acceptable post-bronchodilator spirometry measurements and information on use of solid fuels. The association of airflow obstruction with use of solid fuels for cooking or heating was assessed by sex, within each site, using regression analysis. Estimates were stratified by national income and meta-analysed. We carried out similar analyses for spirometric restriction, chronic cough and chronic phlegm.
We found no association between airflow obstruction and use of solid fuels for cooking or heating (ORmen=1.20, 95%CI 0.94-1.53; ORwomen=0.88, 95%CI 0.67-1.15). This was true for low/middle and high income sites. Among never smokers there was also no evidence of an association of airflow obstruction with use of solid fuels (ORmen=1.00, 95%CI 0.57-1.76; ORwomen=1.00, 95%CI 0.76-1.32). Overall, we found no association of spirometric restriction, chronic cough or chronic phlegm with the use of solid fuels. However, we found that chronic phlegm was more likely to be reported among female never smokers and those who had been exposed for ≥20 years.
Airflow obstruction assessed from post-bronchodilator spirometry was not associated with use of solid fuels for cooking or heating.
We studied the prevalence, burden and potential risk factors for chronic bronchitis symptoms in the Burden of Obstructive Lung Disease study.Representative population-based samples of adults aged ≥40 ...years were selected in participating sites. Participants completed questionnaires and spirometry. Chronic bronchitis symptoms were defined as chronic cough and phlegm on most days for ≥3 months each year for ≥2 years.Data from 24 855 subjects from 33 sites in 29 countries were analysed. There were significant differences in the prevalence of self-reported symptoms meeting our definition of chronic bronchitis across sites, from 10.8% in Lexington (KY, USA), to 0% in Ile-Ife (Nigeria) and Blantyre (Malawi). Older age, less education, current smoking, occupational exposure to fumes, self-reported diagnosis of asthma or lung cancer and family history of chronic lung disease were all associated with increased risk of chronic bronchitis. Chronic bronchitis symptoms were associated with worse lung function, more dyspnoea, increased risk of respiratory exacerbations and reduced quality of life, independent of the presence of other lung diseases.The prevalence of chronic bronchitis symptoms varied widely across the studied sites. Chronic bronchitis symptoms were associated with significant burden both in individuals with chronic airflow obstruction and those with normal lung function.
Brucellosis is a neglected bacterial zoonotic disease with substantial economic impact on households. Pastoral communities are a potential risk group due to their way of life being closely ...interlinked with their large livestock herds.
A semi-structured questionnaire survey was conducted in households in the pastoral Afar and Somali (SRS) regions. All households had people and animals serologically tested for brucellosis. Questions were related to husbandry, consumption habits, and knowledge-attitude-practice towards the disease and zoonoses. Descriptive statistics and logistic analysis were performed to assess potential risk factors for having households with positive humans and/or animals.
647 households were included in the survey. Herd brucellosis prevalence was 40.3 % (15.9–86.3 % in Afar; 4–72.2 % in SRS). Over half (56.3 %) of the households in Afar and 41.8 % in SRS had at least one human reactor. Nearly a quarter of the households (22.8 %), recalled abortions in goats in the last 12 months, whereas 52.5 % and 50.3 % recalled stillborn in all species and membrane retentions respectively. All respondents drank raw milk and discarded animal afterbirths in the direct surroundings with minimal protection. Risk factors for animal reactors were goat herd size, and goat abortion. There was no identified risk factor for having human reactors in households. None of the households knew about brucellosis.
Although being endemic in Afar and SRS, Brucellosis is not known by the pastoralists. Brucellosis control programs will have to be tailored to the pastoral context, accounting for their mobility, large, multi-species herds and habits.
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