Clinical features, DYT1 mutation screening and genotype-phenotype correlation in patients with dystonia from Iran

Objective: To test Iranian patients with primary torsion dystonia to determine the frequency of 904-906 del GAG mutation in the DYT1 (TOR1A) gene and to investigate the genotype-phenotype association for this disease. Subjects and Methods: Sixty-three patients with primary dystonia were investigated. DNA was extracted from peripheral blood and these samples were subjected to PCR-sequencing for exon 5 of the DYT1 gene. Results: Of the 63 patients, 10 (15.9) carried the triplet GAG deletion mutation; this is a high DYT1-positive rate in comparison with other populations and the type of dystonia in this positive group was generalized in all except 1. In our patients, limbs were the most severely involved site at the time of onset and in most cases it developed to generalized form. The majority of DYT1-positive cases showed higher leg onset (5 patients, 62.5) in comparison with higher arm onset in negative patients (20 patients, 50). Also, the progression to generalized dystonia in DYT1-positive patients was significantly higher than in DYT1-negative patients. The mean age at onset was 8.6 ± 1.6 years (7-12 years) in DYT1-positive patients, while mean age at onset in patients with no GAG deletion mutation was higher (15.7 ± 11.5 years). Conclusions: The DYT1 904-906 del GAG mutation is responsible for some of Iranian dystonia patients, and screening for the DYT1 deletion is significant in cases with the generalized type of primary dystonia. Also, patients with leg or arm onset at a younger age are more likely to be DYT1-positive among primary torsion dystonia cases. Copyright © 2012 S. Karger AG, Basel

Adapted MMSE and TYM cognitive tests: how much powerful in screening for Alzheimer�s disease in Iranian people

Alzheimer�s disease (AD) is a major global health priority and providing an efficient way for early diagnosis of people developing dementia is important. The Mini-Mental State Examination (MMSE, total score = 30) and Test Your Memory (TYM, total score = 50) are widely used as screening tests for cognitive function. In the present study 174 subjects including healthy people (CON group) and those having Alzheimer�s disease (AD group) were introduced to MMSE and TYM cognitive tests adjusted to Iranian population. Sensitivities and specificities with optimal cut-off scores, area under curve (AUC), positive predictive value (PPV) and negative predictive value (NPV) were measured for both tests. The MMSE scores of the CON and AD groups were 23.77 ± 0.327 and 10.88 ± 0.762, respectively. The TYM scores were 44.32 ± 0.389 and 14.37 ± 1.368 in the CON and AD participants, respectively. Findings in the MMSE test were: AUC = 0.962, optimal cut-off score = 18.5, sensitivity = 0.90 and specificity = 0.96. Values in the TYM test were: AUC = 0.991, optimal cut-off score = 31, sensitivity = 0.90 and specificity = 1. We found no correlation between the cognitive performance and age in the CON group but a positive correlation in the AD patients. On the other hand, t-test analysis indicated that achievement of the test scores are significantly sex dependent, with more scores attained by the females. Taken together, in regard to correct classification rate (CCR); the TYM test seems to be more appropriate for cognitive screening in our study. However, considering an analogous AUC, both tests are comparable and have high sensitivity and specificity for discriminating between people with and without AD. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group

COVID-19 related acro-ischemic neuropathic-like painful lesions in pediatric patients: A case seriese

Background: A variety of skin manifestations have been associated with COVID-19 infection. Acral lesions on hands and feet, closely resembling chilblains, have been reported in association with COVID-19, which are nonspecific. These acro-ischemic painful lesions have been described mainly in asymptomatic and mildly symptomatic pediatric COVID-19 positive patients, without a precise patho-genetic mechanism.COVID-19-induced chilblains may portend an indolent course and a good outcome. In young patients, the IFN-1 response induces microangiopathic changes and produces a chilblain lupus erythematosus-like eruption with vasculitic neuro-pathic pain features. Objectives: This paper presented a case series of pediatric patients with COVID-19-related skin lesions and neuropathic-like pain. Methods: Clinical outcomes were collected from 11 patients diagnosed with painful erythematous skin lesions with neuropathic-like pain and positive IgG for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Results: It is a mildly symptomatic condition not related to severe pain rates, and it is treated with paracetamol due to the transitory nature of the problem, which provides good results. Conclusions: A particular point of interest is skin lesion manifestation as a further indirect sign of SARS-CoV-2 infection. Due to the initial manifestation of chilblains in pauci-symptomatic pediatric patients, they need to be immediately tested and isolated. Chilblains can be considered a clinical clue to suspect SARS-CoV-2 infection and help in early diagnosis, patient triage, and infection control. © 2021, Author(s)

Global, regional, and national age-sex-specific mortality and life expectancy, 1950–2017: a systematic analysis for the Global Burden of Disease Study 2017

BACKGROUND: Assessments of age-specific mortality and life expectancy have been done by the UN Population Division, Department of Economics and Social Affairs (UNPOP), the United States Census Bureau, WHO, and as part of previous iterations of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD). Previous iterations of the GBD used population estimates from UNPOP, which were not derived in a way that was internally consistent with the estimates of the numbers of deaths in the GBD. The present iteration of the GBD, GBD 2017, improves on previous assessments and provides timely estimates of the mortality experience of populations globally. METHODS: The GBD uses all available data to produce estimates of mortality rates between 1950 and 2017 for 23 age groups, both sexes, and 918 locations, including 195 countries and territories and subnational locations for 16 countries. Data used include vital registration systems, sample registration systems, household surveys (complete birth histories, summary birth histories, sibling histories), censuses (summary birth histories, household deaths), and Demographic Surveillance Sites. In total, this analysis used 8259 data sources. Estimates of the probability of death between birth and the age of 5 years and between ages 15 and 60 years are generated and then input into a model life table system to produce complete life tables for all locations and years. Fatal discontinuities and mortality due to HIV/AIDS are analysed separately and then incorporated into the estimation. We analyse the relationship between age-specific mortality and development status using the Socio-demographic Index, a composite measure based on fertility under the age of 25 years, education, and income. There are four main methodological improvements in GBD 2017 compared with GBD 2016: 622 additional data sources have been incorporated; new estimates of population, generated by the GBD study, are used; statistical methods used in different components of the analysis have been further standardised and improved; and the analysis has been extended backwards in time by two decades to start in 1950. FINDINGS: Globally, 18·7% (95% uncertainty interval 18·4–19·0) of deaths were registered in 1950 and that proportion has been steadily increasing since, with 58·8% (58·2–59·3) of all deaths being registered in 2015. At the global level, between 1950 and 2017, life expectancy increased from 48·1 years (46·5–49·6) to 70·5 years (70·1–70·8) for men and from 52·9 years (51·7–54·0) to 75·6 years (75·3–75·9) for women. Despite this overall progress, there remains substantial variation in life expectancy at birth in 2017, which ranges from 49·1 years (46·5–51·7) for men in the Central African Republic to 87·6 years (86·9–88·1) among women in Singapore. The greatest progress across age groups was for children younger than 5 years; under-5 mortality dropped from 216·0 deaths (196·3–238·1) per 1000 livebirths in 1950 to 38·9 deaths (35·6–42·83) per 1000 livebirths in 2017, with huge reductions across countries. Nevertheless, there were still 5·4 million (5·2–5·6) deaths among children younger than 5 years in the world in 2017. Progress has been less pronounced and more variable for adults, especially for adult males, who had stagnant or increasing mortality rates in several countries. The gap between male and female life expectancy between 1950 and 2017, while relatively stable at the global level, shows distinctive patterns across super-regions and has consistently been the largest in central Europe, eastern Europe, and central Asia, and smallest in south Asia. Performance was also variable across countries and time in observed mortality rates compared with those expected on the basis of development. INTERPRETATION: This analysis of age-sex-specific mortality shows that there are remarkably complex patterns in population mortality across countries. The findings of this study highlight global successes, such as the large decline in under-5 mortality, which reflects significant local, national, and global commitment and investment over several decades. However, they also bring attention to mortality patterns that are a cause for concern, particularly among adult men and, to a lesser extent, women, whose mortality rates have stagnated in many countries over the time period of this study, and in some cases are increasing

Global, regional, and national burden of disorders affecting the nervous system, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

Background: Disorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021. Methods: We estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined. Findings: Globally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378–521), affecting 3·40 billion (3·20–3·62) individuals (43·1%, 40·5–45·9 of the global population); global DALY counts attributed to these conditions increased by 18·2% (8·7–26·7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33·6% (27·6–38·8), and age-standardised rates of DALYs attributed to these conditions decreased by 27·0% (21·5–32·4). Age-standardised prevalence was almost stable, with a change of 1·5% (0·7–2·4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer's disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer. Interpretation: As the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed. Funding: Bill & Melinda Gates Foundation

Evaluating the quantity and composition of solid waste generated in Kashan during 2009-10

Background: Solid waste management is considered to be one of the most immediate and serious environmental problems confronting urban governments in developing countries. Qualitative and quantitative variety of waste composition, uncontrolled urban development and the lack of appropriate waste management technology cause particular problems that solving them needs a careful study and the coordination of science and experience in the form of a proper management. Materials and Methods: This descriptive study was carried out on solid wastes generated in Kashan over a limited timeframe of 12 months during 2009-10. One sample was randomly taken per month according to the standard instruction and subsequently the physical analysis of it was performed.Results: The average daily waste generation rate in Kashan is 185 tons, of which 75.5 are putrescible materials. The average daily waste generation is tantamount to 638 g/capita while the average density of the waste was 194 kg/m3 at transfer station. The most frequent metal measured in the leachate solid waste was iron. Conclusion: According to the results, high percentages of solid wastes in Kashan were allocated to plastic and corruptible materials, and then the paper and cardboard. Considering that the prevention of adverse environmental effects of solid waste is a priority and applying proper management techniques can help to achieve this, public education for the waste separation at the source, waste reduction and subsequently reduction of the leachate volume as well as the proper manner of recycling, collection and disposal of the waste are recommended

Job stress among the nursing staff of Kashan hospitals

Background: Job stress, the most important factor in reducing organizational productivity and the cause of psychosomatic disorders, today is more prevalent among the healthcare staff. Therefore, the aim of the present study was to assess the level of job stress among the nursing staff of Kashan hospitals during 2009.Materials and Methods: This descriptive cross-sectional study was performed on 190 nurses of Kashan hospitals using the Osipow questionnaire consisted of two parts: demographic data and six stress-inducing work roles (role overload, role insufficiency, role ambiguity, role boundary, responsibility and physical environment). In addition, job stress was divided into four (subnormal, normal, moderate and severe) levels. Results: Results indicated that the 95.3 of nursing staff were found to have a normal level of job stress. No significant relationship was seen between the job stress and gender however, there was a significant relation between the role insufficiency, role boundary, responsibility and physical environment and gender. Moreover, no significant relationship was found between the job stress and some factors (e.g. age, education, marital status, income and type of hospital). The most frequent job stressors among the men and women were responsibility (90.2) and role ambiguity (40.9), respectively.Conclusion: Role ambiguity, responsibility and workload are the major sources of stress among the nursing staff

Shikimate dehydrogenase expression and activity in sunflower genotypes susceptible and resistant to sclerotinia sclerotiorum (Lib.) de bary

The response of five inbred sunflower seedling lines, including AC 4122, C, HA 89, HA 410, HA 411, to inoculation with Sclerotinia sclerotiorum culture filtrate containing endogenous oxalic acid was compared with the exogenous application of synthetic oxalic acid. The reaction of seedlings was evaluated in terms of dry and fresh plant weights and the total chlorophyll concentration relative to untreated controls. The expression of shikimate dehydrogenase in cotyledons was also assessed five days after treatment. The results indicated that exogenous oxalic acid inoculation caused more deleterious effects on stem rot, eliciting photosynthesis reduction and different isoenzyme patterns of shikimate dehydrogenase. A positive correlation was found between increased oxalic acid and shikimate dehydrogenase activity in both treatments. However, the excessive toxicity of the exogenously administrated acid suggests that Sclerotinia sclerotiorum infection triggers a more complex metabolic pathway involving oxalic acid secreted by the pathogen. These observations preclude the possibility of using the synthetic acid administration as a method of screening sunflower genotypes for resistance to Sclerotinia. In addition to these findings, the reactivation of shikimate dehydrogenase was observed in both treatments. In contrast to synthetic administration, expression during the first phase of growth may serve as a tool for rapid screening and selection of sunflower genotypes resistant to Sclerotinia sclerotiorum