Wiedemann-Steiner Syndrome with a 2-Year Follow-Up

Wiedemann-Steiner syndrome (WDSTS) is an exceptionally rare genetic syndrome characterized by postnatal growth retardation, facial dysmorphism, hairy elbow, and short stature. It is known that the occurrence of WDSTS is due to mutations in KMT2A gene. It is noteworthy that not a great number of WDSTS have been identified yet; thereby, new phenotypes and features continue to be added. In this report, we describe a 5-year-old male patient presented with developmental delay, hypothyroidism, facial dysmorphism, and behavioral signs such as autistic spectrum features. By Whole Exome Sequencing (WES), a new mutation in KMT2A was found and WDSTS was diagnosed genetically. According to a genetic test, a variant in exon 27 of the KMT2A gene c.6647delT (p.Pro2215fs) was found. This mutation was not reported previously, also this case was the first WDSTS diagnosed in Iran. This syndrome is a rare genetic disorder representing a broad range of phenotypes. The mentioned low frequency emphasizes the importance of a phenotype-genotype correlation to be established. The phenotype comparison between our case and previously reported patient did not reveal any difference related to age or sex in patients with WDST

Prediction of the Number of Carbon Atoms in Various Nanostructures by Using Geometrical Approach

With the growth of nanotechnology, many attempts have been made on the chemical and physical properties of nanostructures. Due to relation between physical properties and geometrical structure, understanding of the geometrical structure is very important. Moreover, this can be useful for finding unknown structures that have not been produced in laboratory yet. In the present work, first we have investigated the structure of some nanostructures from the geometrical point of view. Then an algorithm is proposed for discovering the number of carbon atoms in various nanotubes and fullerenes. In the presented algorithm, a nanosheet in 2D space is considered as a start point. Creating twelve nanocones in nanosheet makes it a nanostructure. Different nanostructures are produced by relocation of nanocones. The result shows that the number of carbon atoms in different nanostructures is a sequence that has infinite harmonies and follows a simple formula. Each harmony is an arithmetic progression

Exploitation of resources and cardiovascular outcomes in low-risk patients with chest pain hospitalized in coronary care units

Habibollah Saadat¹, Hossein Shiri², Zahra Salarpour², Tahereh Ashktorab² , Hamid Alavi Majd², Zahra Saadat¹, Hosein Vakili¹ 1Cardiovascular Research Center, Modarres Hospital, Shaheed Beheshti University of Medical Sciences, Tehran; 2Nursing School, Shaheed Beheshti University of Medical Sciences, Tehran, Iran Background: Most patients who present to medical centers due to chest pain do not suffer from acute coronary syndromes and do not need to be hospitalized in coronary care units (CCUs). This study was done to determine exploitation of resources and cardiovascular outcomes in low-risk patients with chest pain hospitalized in CCUs of educational hospitals affiliated with a major medical university. Methods: Over a 4-month period, 550 patients with chest pain who were hospitalized in the CCUs belonging to six hospitals affiliated to the authors' medical university were recruited by census method. Using Thrombolysis in Myocardial Infarction risk score, 95 patients (17.27%) were categorized as low-risk patients. This group was evaluated with respect to demographics, bed occupancy rate, mean hospitalization period, expenses during admission, and cardiovascular outcomes in the 30-day period postdischarge. Results: Mean (± standard deviation) hospitalization duration was 3.04 (±0.71) days. No significant difference was seen between the six surveyed hospitals regarding hospitalization duration (P = 0.602). The highest bed occupancy rate was seen in Taleghani and Shohada Tajrish hospitals and the lowest was in Modarres Hospital. The mean paid treatment expenses by low-risk patients was IRR 2,050,000 (US$205). Mean total hospitalization expenses was US$205. No significant difference was seen between the six surveyed hospitals (P = 0.699). Of the patients studied, 89.5% did not show any cardiovascular complications in 1 month and no deaths occurred. Conclusion: Given the high bed-occupancy rate by low-risk patients, associated high hospitalization costs, and the lack of cardiovascular complications in patients observed at 1-month follow-up after discharge, it is recommended that appropriate evaluations be performed in emergency units to prevent unnecessary admissions. Keywords: bed occupancy, hospitalization expenses, low-risk patients, chest pain, exploitation of resource

Burden of disease scenarios for 204 countries and territories, 2022–2050: a forecasting analysis for the Global Burden of Disease Study 2021

Background: Future trends in disease burden and drivers of health are of great interest to policy makers and the public at large. This information can be used for policy and long-term health investment, planning, and prioritisation. We have expanded and improved upon previous forecasts produced as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) and provide a reference forecast (the most likely future), and alternative scenarios assessing disease burden trajectories if selected sets of risk factors were eliminated from current levels by 2050. Methods: Using forecasts of major drivers of health such as the Socio-demographic Index (SDI; a composite measure of lag-distributed income per capita, mean years of education, and total fertility under 25 years of age) and the full set of risk factor exposures captured by GBD, we provide cause-specific forecasts of mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) by age and sex from 2022 to 2050 for 204 countries and territories, 21 GBD regions, seven super-regions, and the world. All analyses were done at the cause-specific level so that only risk factors deemed causal by the GBD comparative risk assessment influenced future trajectories of mortality for each disease. Cause-specific mortality was modelled using mixed-effects models with SDI and time as the main covariates, and the combined impact of causal risk factors as an offset in the model. At the all-cause mortality level, we captured unexplained variation by modelling residuals with an autoregressive integrated moving average model with drift attenuation. These all-cause forecasts constrained the cause-specific forecasts at successively deeper levels of the GBD cause hierarchy using cascading mortality models, thus ensuring a robust estimate of cause-specific mortality. For non-fatal measures (eg, low back pain), incidence and prevalence were forecasted from mixed-effects models with SDI as the main covariate, and YLDs were computed from the resulting prevalence forecasts and average disability weights from GBD. Alternative future scenarios were constructed by replacing appropriate reference trajectories for risk factors with hypothetical trajectories of gradual elimination of risk factor exposure from current levels to 2050. The scenarios were constructed from various sets of risk factors: environmental risks (Safer Environment scenario), risks associated with communicable, maternal, neonatal, and nutritional diseases (CMNNs; Improved Childhood Nutrition and Vaccination scenario), risks associated with major non-communicable diseases (NCDs; Improved Behavioural and Metabolic Risks scenario), and the combined effects of these three scenarios. Using the Shared Socioeconomic Pathways climate scenarios SSP2-4.5 as reference and SSP1-1.9 as an optimistic alternative in the Safer Environment scenario, we accounted for climate change impact on health by using the most recent Intergovernmental Panel on Climate Change temperature forecasts and published trajectories of ambient air pollution for the same two scenarios. Life expectancy and healthy life expectancy were computed using standard methods. The forecasting framework includes computing the age-sex-specific future population for each location and separately for each scenario. 95% uncertainty intervals (UIs) for each individual future estimate were derived from the 2·5th and 97·5th percentiles of distributions generated from propagating 500 draws through the multistage computational pipeline. Findings: In the reference scenario forecast, global and super-regional life expectancy increased from 2022 to 2050, but improvement was at a slower pace than in the three decades preceding the COVID-19 pandemic (beginning in 2020). Gains in future life expectancy were forecasted to be greatest in super-regions with comparatively low life expectancies (such as sub-Saharan Africa) compared with super-regions with higher life expectancies (such as the high-income super-region), leading to a trend towards convergence in life expectancy across locations between now and 2050. At the super-region level, forecasted healthy life expectancy patterns were similar to those of life expectancies. Forecasts for the reference scenario found that health will improve in the coming decades, with all-cause age-standardised DALY rates decreasing in every GBD super-region. The total DALY burden measured in counts, however, will increase in every super-region, largely a function of population ageing and growth. We also forecasted that both DALY counts and age-standardised DALY rates will continue to shift from CMNNs to NCDs, with the most pronounced shifts occurring in sub-Saharan Africa (60·1% [95% UI 56·8–63·1] of DALYs were from CMNNs in 2022 compared with 35·8% [31·0–45·0] in 2050) and south Asia (31·7% [29·2–34·1] to 15·5% [13·7–17·5]). This shift is reflected in the leading global causes of DALYs, with the top four causes in 2050 being ischaemic heart disease, stroke, diabetes, and chronic obstructive pulmonary disease, compared with 2022, with ischaemic heart disease, neonatal disorders, stroke, and lower respiratory infections at the top. The global proportion of DALYs due to YLDs likewise increased from 33·8% (27·4–40·3) to 41·1% (33·9–48·1) from 2022 to 2050, demonstrating an important shift in overall disease burden towards morbidity and away from premature death. The largest shift of this kind was forecasted for sub-Saharan Africa, from 20·1% (15·6–25·3) of DALYs due to YLDs in 2022 to 35·6% (26·5–43·0) in 2050. In the assessment of alternative future scenarios, the combined effects of the scenarios (Safer Environment, Improved Childhood Nutrition and Vaccination, and Improved Behavioural and Metabolic Risks scenarios) demonstrated an important decrease in the global burden of DALYs in 2050 of 15·4% (13·5–17·5) compared with the reference scenario, with decreases across super-regions ranging from 10·4% (9·7–11·3) in the high-income super-region to 23·9% (20·7–27·3) in north Africa and the Middle East. The Safer Environment scenario had its largest decrease in sub-Saharan Africa (5·2% [3·5–6·8]), the Improved Behavioural and Metabolic Risks scenario in north Africa and the Middle East (23·2% [20·2–26·5]), and the Improved Nutrition and Vaccination scenario in sub-Saharan Africa (2·0% [–0·6 to 3·6]). Interpretation: Globally, life expectancy and age-standardised disease burden were forecasted to improve between 2022 and 2050, with the majority of the burden continuing to shift from CMNNs to NCDs. That said, continued progress on reducing the CMNN disease burden will be dependent on maintaining investment in and policy emphasis on CMNN disease prevention and treatment. Mostly due to growth and ageing of populations, the number of deaths and DALYs due to all causes combined will generally increase. By constructing alternative future scenarios wherein certain risk exposures are eliminated by 2050, we have shown that opportunities exist to substantially improve health outcomes in the future through concerted efforts to prevent exposure to well established risk factors and to expand access to key health interventions

Global burden and strength of evidence for 88 risk factors in 204 countries and 811 subnational locations, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021

Background: Understanding the health consequences associated with exposure to risk factors is necessary to inform public health policy and practice. To systematically quantify the contributions of risk factor exposures to specific health outcomes, the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 aims to provide comprehensive estimates of exposure levels, relative health risks, and attributable burden of disease for 88 risk factors in 204 countries and territories and 811 subnational locations, from 1990 to 2021. Methods: The GBD 2021 risk factor analysis used data from 54 561 total distinct sources to produce epidemiological estimates for 88 risk factors and their associated health outcomes for a total of 631 risk–outcome pairs. Pairs were included on the basis of data-driven determination of a risk–outcome association. Age-sex-location-year-specific estimates were generated at global, regional, and national levels. Our approach followed the comparative risk assessment framework predicated on a causal web of hierarchically organised, potentially combinative, modifiable risks. Relative risks (RRs) of a given outcome occurring as a function of risk factor exposure were estimated separately for each risk–outcome pair, and summary exposure values (SEVs), representing risk-weighted exposure prevalence, and theoretical minimum risk exposure levels (TMRELs) were estimated for each risk factor. These estimates were used to calculate the population attributable fraction (PAF; ie, the proportional change in health risk that would occur if exposure to a risk factor were reduced to the TMREL). The product of PAFs and disease burden associated with a given outcome, measured in disability-adjusted life-years (DALYs), yielded measures of attributable burden (ie, the proportion of total disease burden attributable to a particular risk factor or combination of risk factors). Adjustments for mediation were applied to account for relationships involving risk factors that act indirectly on outcomes via intermediate risks. Attributable burden estimates were stratified by Socio-demographic Index (SDI) quintile and presented as counts, age-standardised rates, and rankings. To complement estimates of RR and attributable burden, newly developed burden of proof risk function (BPRF) methods were applied to yield supplementary, conservative interpretations of risk–outcome associations based on the consistency of underlying evidence, accounting for unexplained heterogeneity between input data from different studies. Estimates reported represent the mean value across 500 draws from the estimate's distribution, with 95% uncertainty intervals (UIs) calculated as the 2·5th and 97·5th percentile values across the draws. Findings: Among the specific risk factors analysed for this study, particulate matter air pollution was the leading contributor to the global disease burden in 2021, contributing 8·0% (95% UI 6·7–9·4) of total DALYs, followed by high systolic blood pressure (SBP; 7·8% [6·4–9·2]), smoking (5·7% [4·7–6·8]), low birthweight and short gestation (5·6% [4·8–6·3]), and high fasting plasma glucose (FPG; 5·4% [4·8–6·0]). For younger demographics (ie, those aged 0–4 years and 5–14 years), risks such as low birthweight and short gestation and unsafe water, sanitation, and handwashing (WaSH) were among the leading risk factors, while for older age groups, metabolic risks such as high SBP, high body-mass index (BMI), high FPG, and high LDL cholesterol had a greater impact. From 2000 to 2021, there was an observable shift in global health challenges, marked by a decline in the number of all-age DALYs broadly attributable to behavioural risks (decrease of 20·7% [13·9–27·7]) and environmental and occupational risks (decrease of 22·0% [15·5–28·8]), coupled with a 49·4% (42·3–56·9) increase in DALYs attributable to metabolic risks, all reflecting ageing populations and changing lifestyles on a global scale. Age-standardised global DALY rates attributable to high BMI and high FPG rose considerably (15·7% [9·9–21·7] for high BMI and 7·9% [3·3–12·9] for high FPG) over this period, with exposure to these risks increasing annually at rates of 1·8% (1·6–1·9) for high BMI and 1·3% (1·1–1·5) for high FPG. By contrast, the global risk-attributable burden and exposure to many other risk factors declined, notably for risks such as child growth failure and unsafe water source, with age-standardised attributable DALYs decreasing by 71·5% (64·4–78·8) for child growth failure and 66·3% (60·2–72·0) for unsafe water source. We separated risk factors into three groups according to trajectory over time: those with a decreasing attributable burden, due largely to declining risk exposure (eg, diet high in trans-fat and household air pollution) but also to proportionally smaller child and youth populations (eg, child and maternal malnutrition); those for which the burden increased moderately in spite of declining risk exposure, due largely to population ageing (eg, smoking); and those for which the burden increased considerably due to both increasing risk exposure and population ageing (eg, ambient particulate matter air pollution, high BMI, high FPG, and high SBP). Interpretation: Substantial progress has been made in reducing the global disease burden attributable to a range of risk factors, particularly those related to maternal and child health, WaSH, and household air pollution. Maintaining efforts to minimise the impact of these risk factors, especially in low SDI locations, is necessary to sustain progress. Successes in moderating the smoking-related burden by reducing risk exposure highlight the need to advance policies that reduce exposure to other leading risk factors such as ambient particulate matter air pollution and high SBP. Troubling increases in high FPG, high BMI, and other risk factors related to obesity and metabolic syndrome indicate an urgent need to identify and implement interventions

Hospital Information System and its Role in the Development of Medical and Health Services: A Review Article

Increasing growth of communication industries and informatics, cause the world is facing with a new revolution. Revolution of information and communication technologies in all sectors of the economy, society, politic and security of countries has left a significant effect. One of the most important application areas of information technology is the field of health and treatment. Hospital information system is the first and most important system of health care delivery. Hospital information systems are the computer systems that are easy to manage medicine and hospital management information and are designed to improve health care. Investigations have shown that using a hospital information system caused to improve quality of health care and increase satisfaction of clients. Some problems of the health care system are distribution of patients’ information and Lack of access to their records, Weak cooperation between physicians and health care workers, and also weakness of access to necessary medical information. These problems are solvable through the development of information technology and especially hospital (Health) information systems. This paper studies the hospital information systems, implementation of these systems and their role in the development of medical and health services

Soft Law

While traditional points of law are based on centralism and formalism, in the last decades contrasting approaches emerged that deny the traditional role of government in law. “Soft Law” is one of the main concepts in this viewpoint that is completely controversial. Although soft law has evidently a great influence in practice, it is still a relatively unstudied topic in Iran. This article is an attempt to consider the arguments of opponents and proponents of soft law, its core characteristics, benefits and instruments. The article argues that both of soft law and hard law should be used to make legal development

Generation of the Figures of Some Fullerenes by Using L-Systems

In 1968, Aristid Lindenmayer introduced a biologically-motivated formalism for simulating the development of multi-cellular organisms, subsequently named L-systems. The applications include, on one hand, the modeling and visualization of plants at different levels of abstraction for a variety of purposes, and, on the other hand, geometric modeling of curves and surfaces. In this paper, we introduce L-system for generating NiceGraph drawing of fullerenes C20 and C60, without information about the carbon atoms coordination. We chose L-systems because they can express drawing steps in a compact way and are parallel in nature. It will be a good trend for visualizing complex supramolecules

Comparison between Intracoronary Abciximab and Intravenous Eptifibatide Administration during Primary Percutaneous Coronary Intervention of Acute ST-Segment Elevation Myocardial Infarction

Background: Administration of glycoprotein IIb/IIIa inhibitors is an effective adjunctive treatment strategy during primary percutaneous coronary intervention (PPCI) for ST-segment elevation myocardial infarction (STEMI). Recent data suggest that an intracoronary administration of these drugs can increase the efficacy of PPCI. This study was done to find any potential difference in terms of efficacy of administering intracoronary Abciximab vs. intravenous Eptifibatide in primary PPCI. Methods: A total of 40 STEMI patients who underwent PPCI within 12 hours of symptom onset were randomized to either an intracoronary Abciximab (0.25 µg/kg) bolus or two boluses of intravenous Eptifibatide (0.180 µg/kg) each 10 minutes. The primary end points were enzymatic infarct size, myocardial reperfusion measured as ST-segment resolution (STR), and post-procedural thrombolysis in myocardial infarction (TIMI) grade flow of the infarct-related artery. The secondary end points were intra-procedural adverse effect (arrhythmia) and no-reflow phenomenon, in-hospital mortality, reinfarction, hemorrhage, and post-procedural global systolic function. Results: Post-procedural TIMI grade 3 flow was achieved in 95% and 90% of the intracoronary Abciximab and intravenous Eptifibatide groups, respectively (p value = 0.61). The infarct size, as assessed by the area under the curve of creatine phosphokinase-MB in the first 48 hours after PPCI (µmol/L/hr ), was similar between the intracoronary Abciximab and intravenous Eptifibatide groups: 6591 (interquartile range [IQR], 3006.0 to 11112.0) versus 7,294 (IQR, 3795.5 to 11803.5); p value = 0.59. Complete STR was achieved in 55% and 45% of the intracoronary Abciximab and intravenous Eptifibatide groups, respectively (p value = 0.87). No deaths, urgent revascularizations, reinfarctions, or TIMI major bleeding events were observed in either group. Conclusion: The intracoronary administration of Abciximab was not superior to the intravenous administration of Eptifibatide in the STEMI patients who underwent primary PCI