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1.
Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next‐generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders (2012) advocates and renews the naming system of locus symbols. Here, we propose a nomenclature for myoclonus syndromes and related disorders with myoclonic jerks (hyperekplexia and myoclonic epileptic encephalopathies) to guide clinicians in their diagnostic approach to patients with these disorders. Sixty‐seven genes were included in the nomenclature. They were divided into 3 subgroups: prominent myoclonus syndromes, 35 genes; prominent myoclonus syndromes combined with another prominent movement disorder, 9 genes; disorders that present usually with other phenotypes but can manifest as a prominent myoclonus syndrome, 23 genes. An additional movement disorder is seen in nearly all myoclonus syndromes: ataxia (n = 41), ataxia and dystonia (n = 6), and dystonia (n = 5). However, no additional movement disorders were seen in related disorders. Cognitive decline and epilepsy are present in the vast majority. The anatomical origin of myoclonus is known in 64% of genetic disorders: cortical (n = 34), noncortical areas (n = 8), and both (n = 1). Cortical myoclonus is commonly seen in association with ataxia, and noncortical myoclonus is often seen with myoclonus‐dystonia. This new nomenclature of myoclonus will guide diagnostic testing and phenotype classification. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.  相似文献   
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Background: Synthetic cannabinoids (SCs) are a class of drugs of abuse with deleterious consequences. Despite governmental regulations related to distribution and sale, SC variants are still available online. More research is needed to determine SC use prevalence and factors associated with SC use, especially among young adults. Methods: One thousand eighty individuals, 18–25 years old, were surveyed, between January 2012 and July 2013, during recruitment for a randomized controlled trial investigating health behaviors in young adults. Advertisements were placed online and in community locations seeking individuals “who had recently used marijuana or alcohol.” Respondents were queried about their use of alcohol and drugs, including SCs, in the last month. Results: Participants averaged 21.4 years old and were 53.4% male. Nearly 59% were non-Hispanic white, 15% were African American, 15% were Hispanic, and 11% identified as other. Approximately 9% reported SC use in the last month, a level higher than the reported use of opioids, cocaine, or hallucinogens. SC use was significantly associated with male gender, not being enrolled in school, and with use of cigarettes, binge alcohol drinking, daily and weekly marijuana use, and other drugs of abuse. There was a significant decrease in SC use after the federal ban in July 2012. Conclusions: SC use was common in the past month and often overlaps with other drug use, particularly marijuana use, and should be asked about during clinical encounters with young adults.  相似文献   
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Background

Nodding Syndrome is a seizure disorder of children in Mundri County, Western Equatoria, South Sudan. The disorder is reported to be spreading in South Sudan and northern Uganda.

Objective

To describe environmental, nutritional, infectious, and other factors that existed before and during the de novo 1991 appearance and subsequent increase in cases through 2001.

Methods

Household surveys, informant interviews, and case-control studies conducted in Lui town and Amadi village in 2001–2002 were supplemented in 2012 by informant interviews in Lui and Juba, South Sudan.

Results

Nodding Syndrome was associated with Onchocerca volvulus and Mansonella perstans infections, with food use of a variety of sorghum (serena) introduced as part of an emergency relief program, and was inversely associated with a history of measles infection. There was no evidence to suggest exposure to a manmade neurotoxic pollutant or chemical agent, other than chemically dressed seed intended for planting but used for food. Food use of cyanogenic plants was documented, and exposure to fungal contaminants could not be excluded.

Conclusion

Nodding Syndrome in South Sudan has an unknown etiology. Further research is recommended on the association of Nodding Syndrome with onchocerciasis/mansonelliasis and neurotoxins in plant materials used for food.  相似文献   
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Background: Energy drink consumption, with or without concurrent alcohol use, is common among young adults. This study sought to clarify risk for negative alcohol outcomes related to the timing of energy drink use. Methods: The authors interviewed a community sample of 481 young adults, aged 18–25, who drank alcohol in the last month. Past-30-day energy drink use was operationalized as no-use, use without concurrent alcohol, and concurrent use of energy drinks with alcohol (“within a couple of hours”). Negative alcohol outcomes included past-30-day binge drinking, past-30-day alcohol use disorder, and drinking-related consequences. Results: Just over half (50.5%) reported no use of energy drinks,18.3% reported using energy drinks without concurrent alcohol use, and 31.2% reported concurrent use of energy drinks and alcohol. Relative to those who reported concurrent use of energy drinks with alcohol, and controlling for background characteristics and frequency of alcohol consumption, those who didn't use energy drinks and those who used without concurrent alcohol use had significantly lower binge drinking, negative consequences, and rates of alcohol use disorder (P < .05 for all outcomes). There were no significant differences between the no-use and energy drink without concurrent alcohol groups on any alcohol-related measure (P > .10 for all outcomes). Conclusions: Concurrent energy drink and alcohol use is associated with increased risk for negative alcohol consequences in young adults. Clinicians providing care to young adults could consider asking patients about concurrent energy drink and alcohol use as a way to begin a conversation about risky alcohol consumption while addressing 2 substances commonly used by this population.  相似文献   
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BackgroundMost young adult women who smoke marijuana also drink alcohol. Marijuana-related problems are associated with marijuana use frequency. We hypothesized that increased alcohol use frequency potentiates the association between frequency of marijuana use and marijuana-related problem severity.MethodsWe recruited women aged 18 to 24 who smoked marijuana at least monthly and were not treatment seeking. Marijuana and alcohol use were measured using the timeline follow-back method. Problems associated with marijuana use were assessed using the Marijuana Problems Scale.FindingsParticipants (n = 332) averaged 20.5 ± 1.8 years of age, were 66.7% non-Hispanic White, and reported using marijuana on 51.5 ± 30.6 and alcohol on 18.9 ± 16.8 of the 90 previous days. Controlling for education, ethnicity, years of marijuana use, and other drug use, frequency of marijuana use (b = .22; p < .01) and frequency of alcohol use (b = 0.13; p < .05) had significant, positive effects on marijuana problem severity. In a separate multivariate model, the linear by linear interaction of marijuana by alcohol use frequency was significant (b = 0.18; p < .01), consistent with the hypothesis.ConclusionsConcurrent alcohol use impacts the experience of negative consequences from marijuana use in a community sample of young women. Discussions of marijuana use in young adults should consider the possible potentiating effects of alcohol use.  相似文献   
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Hypertension is increasingly being recognised as an important public health problem in sub-Saharan Africa, with 26.9% of men and 28.4% of women in 2000 being estimated to have hypertension.1 Although lower than the prevalence in high-income countries (37.4% in men and 37.2% in women), in terms of numbers of people affected, the burden of hypertension in low- and middle-income countries is greater due to the large population.1Hypertension has been recognised as a strong independent risk factor for heart disease and stroke and a predictor of premature death and disability from cardiovascular complications.2 It has been reported that 13.5% of deaths and 6% of disability-adjusted life years (DALYs) were attributed to hypertension globally, and for low- and middle income people, these figures were 12.9 and 5.6%, respectively over the period 1990 to 2001.3 Although infectious diseases remain the leading cause of mortality and morbidity in sub-Saharan Africa, the prevalence of cardiovascular disease and hypertension is rising rapidly.4It has been emphasised that urbanisation is a key reason for the increasing rates of hypertension, as evidenced by the higher prevalence of hypertension in urban areas.4-6 Urban lifestyles, characterised by sedentary living, increased salt intake, obesity and stress contribute to these differences.5 With the urban population in sub-Saharan Africa projected to increase, a greater risk of hypertension is anticipated.Studies on the association between ethnicity and hypertension in high-income countries have documented a higher prevalence of hypertension in black ethnic groups compared to white ethnic groups.7-9 Reasons for this association are complex, unclear and much debated, reflecting genetic and biochemical mechanisms, and environmental and socio-economic factors.10,11 There is limited evidence regarding differences in the prevalence of hypertension between ethnic groups within the broader classification of black ethnicity.6,12,13Studies in Nigeria and sub-Saharan Africa have mainly involved specific geographical areas or have focused on sub-groups of the population.5,14 Surveys from Nigeria report prevalence estimates ranging from 20.2 to 36.6%, but all have involved participants with different age ranges.15-18 To plan services for hypertension in Nigeria, it is essential to have accurate prevalence estimates for the whole population and to identify populations at risk.Nigeria, which is the most populous country in sub-Saharan Africa, is home to over 250 different ethnic groups. Nigeria is experiencing rapid urbanisation of the population, which is likely to increase the population at risk for hypertension.19 The present study is one of the largest population-based surveys in the region and is able to provide a nationally representative estimate of hypertension for Nigeria.  相似文献   
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Introduction and BackgroundAt the time of incarceration, women have a high prevalence of sexually transmitted infections (STI). In the months after community release, women remain at high risk for new infections. This study assessed the rates and predictors of incident chlamydia, gonorrhea, and trichomoniasis in a sample of hazardously drinking women after incarceration.MethodsSelf-reported behavioral data were collected from 245 incarcerated women. Vaginal swabs were collected at baseline, and 3- and 6-month time points and tested for chlamydia, gonorrhea, and trichomoniasis. Treatment was provided for all positive tests.ResultsParticipants’ mean age was 34.1 years of age; 175 (71.4%) were Caucasian, 47 (19.2%) were African American, 17 (6.9%) were Hispanic, and 6 (2.4%) were of other ethnic origins. The STI incidence rate was estimated to be 30.5 (95% confidence interval, 21.3–43.5) new infections per 100 person-years. Number of male sex partners reported during follow-up was a significant (z = 2.16; p = .03) predictor of STI; each additional male sex partner increased the estimated hazard of STI by 1.26.ConclusionIncarcerated women who are hazardous drinkers are at high risk for STI in the months after their return to the community. In addition to testing and treatment during incarceration, post-release rescreening, education, partner treatment, and follow-up are recommended.  相似文献   
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