Meningeal hemorrhage and Hermansky-Pudlak syndrome

We studied the case of a young patient affected by a Hermansky-Pudlak syndrome: oculocutaneous albinism of variable intensity with essentially an haemorrhagic diathesis due to a "pool vide" thrombopathy. In beginning the only obvious symptom was a nystagmus and an ocular albinism. Cerebrospinal hemorrhage has up to now never been reported to our knowledge. Healthy carriers can be detected by ophthalmological examination and hematological coagulation tests. Albinos must benefit of systematical coagulation tests in order to prevent drug induced haemorrhagic accident.     

Monitoring Information-Seeking Patterns and Obesity Prevalence in Africa With Internet Search Data: Observational Study

BackgroundThe prevalence of chronic conditions such as obesity, hypertension, and diabetes is increasing in African countries. Many chronic diseases have been linked to risk factors such as poor diet and physical inactivity. Data for these behavioral risk factors are usually obtained from surveys, which can be delayed by years. Behavioral data from digital sources, including social media and search engines, could be used for timely monitoring of behavioral risk factors.ObjectiveThe objective of our study was to propose the use of digital data from internet sources for monitoring changes in behavioral risk factors in Africa.MethodsWe obtained the adjusted volume of search queries submitted to Google for 108 terms related to diet, exercise, and disease from 2010 to 2016. We also obtained the obesity and overweight prevalence for 52 African countries from the World Health Organization (WHO) for the same period. Machine learning algorithms (ie, random forest, support vector machine, Bayes generalized linear model, gradient boosting, and an ensemble of the individual methods) were used to identify search terms and patterns that correlate with changes in obesity and overweight prevalence across Africa. Out-of-sample predictions were used to assess and validate the model performance.ResultsThe study included 52 African countries. In 2016, the WHO reported an overweight prevalence ranging from 20.9% (95% credible interval [CI] 17.1%-25.0%) to 66.8% (95% CI 62.4%-71.0%) and an obesity prevalence ranging from 4.5% (95% CI 2.9%-6.5%) to 32.5% (95% CI 27.2%-38.1%) in Africa. The highest obesity and overweight prevalence were noted in the northern and southern regions. Google searches for diet-, exercise-, and obesity-related terms explained 97.3% (root-mean-square error [RMSE] 1.15) of the variation in obesity prevalence across all 52 countries. Similarly, the search data explained 96.6% (RMSE 2.26) of the variation in the overweight prevalence. The search terms yoga, exercise, and gym were most correlated with changes in obesity and overweight prevalence in countries with the highest prevalence.ConclusionsInformation-seeking patterns for diet- and exercise-related terms could indicate changes in attitudes toward and engagement in risk factors or healthy behaviors. These trends could capture population changes in risk factor prevalence, inform digital and physical interventions, and supplement official data from surveys.     

The expectations and realities of nutrigenomic testing in australia: A qualitative study

BackgroundConsumer genomic testing for nutrition and wellness, (nutritional genomics), is becoming increasingly popular. Concurrently, health‐care practitioners (HPs) working in private practice (including doctors interested in integrative medicine, private genetic counsellors, pharmacists, dieticians, naturopaths and nutritionists) are involved as test facilitators or interpreters.ObjectiveTo explore Australian consumers’ and HPs’ experiences with nutrigenomic testing.MethodSemi‐structured in‐depth interviews were conducted using predominantly purposive sampling. The two data sets were analysed individually, then combined, using a constant comparative, thematic approach.ResultsOverall, 45 interviews were conducted with consumers (n = 18) and HPs (n = 27). Many of the consumer interviewees experienced chronic ill‐health. Nutrigenomic testing was perceived as empowering and a source of hope for answers. While most made changes to their diet/supplements post‐test, self‐reported health improvements were small. A positive relationship with their HP appeared to minimize disappointment. HPs’ adoption and views of nutrigenomic testing varied. Those enthusiastic about testing saw the possibilities it could offer. However, many felt nutrigenomic testing was not the only ‘tool’ to utilize when offering health care.DiscussionThis research highlights the important role HPs play in consumers’ experiences of nutrigenomics. The varied practice suggests relevant HPs require upskilling in this area to at least support their patients/clients, even if nutrigenomic testing is not part of their practice.Patient or public contributionAdvisory group included patient/public group representatives who informed study design; focus group participants gave feedback on the survey from which consumer interviewees were sourced. This informed the HP data set design. Interviewees from HP data set assisted with snowball sampling.     

Estimate of Burden and Direct Healthcare Cost of Infectious Waterborne Disease in the United States

Provision of safe drinking water in the United States is a great public health achievement. However, new waterborne disease challenges have emerged (e.g., aging infrastructure, chlorine-tolerant and biofilm-related pathogens, increased recreational water use). Comprehensive estimates of the health burden for all water exposure routes (ingestion, contact, inhalation) and sources (drinking, recreational, environmental) are needed. We estimated total illnesses, emergency department (ED) visits, hospitalizations, deaths, and direct healthcare costs for 17 waterborne infectious diseases. About 7.15 million waterborne illnesses occur annually (95% credible interval [CrI] 3.88 million–12.0 million), results in 601,000 ED visits (95% CrI 364,000–866,000), 118,000 hospitalizations (95% CrI 86,800–150,000), and 6,630 deaths (95% CrI 4,520–8,870) and incurring US $3.33 billion (95% CrI 1.37 billion–8.77 billion) in direct healthcare costs. Otitis externa and norovirus infection were the most common illnesses. Most hospitalizations and deaths were caused by biofilm-associated pathogens (nontuberculous mycobacteria, Pseudomonas, Legionella), costing US $2.39 billion annually.     

Novel 6-Month Treatment for Drug-Resistant Tuberculosis,United States

The US Food and Drug Administration approved a 6-month regimen of pretomanid, bedaquiline, and linezolid for extensively drug-resistant or multidrug-intolerant tuberculosis after a trial in South Africa demonstrated 90% effectiveness 6 months posttreatment. We report on a patient who completed the regimen using a lower linezolid dose.     

Lycium barbarum polysaccharide fraction associated with photobiomodulation protects from epithelium thickness and collagen fragmentation in a model of cutaneous photodamage

Lasers in Medical Science - Ultraviolet radiation (UVR) is the major etiologic agent of cutaneous photoaging, and different strategies are used to prevent and treat this condition. The...