Marshall-Smith syndrome: a distinct entity

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Jarcho-Levin syndrome

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Simplified Burn-Rate Model for CMDB Propellants

A single model has been proposed to predict the burning rates of bimodal AP,RDX and aluminum containing CMDB propellants. This is done in terms of the respective physical constants on the basis of a recently developed model of combustion of CMDB propellants. The study has been carried out to examine the effects of changes in propellants composition, AP particle size and pressures on burning rate. Computer programs were developed for this purpose and the results obtained for typical sets of input data have been presented and compared with the actual results

Vulnerability analysis of satellite-based synchronized smart grids monitoring systems

The large-scale deployment of wide-area monitoring systems could play a strategic role in supporting the evolution of traditional power systems toward smarter and self-healing grids. The correct operation of these synchronized monitoring systems requires a common and accurate timing reference usually provided by a satellite-based global positioning system. Although these satellites signals provide timing accuracy that easily exceeds the needs of the power industry, they are extremely vulnerable to radio frequency interference. Consequently, a comprehensive analysis aimed at identifying their potential vulnerabilities is of paramount importance for correct and safe wide-area monitoring system operation. Armed with such a vision, this article presents and discusses the results of an experimental analysis aimed at characterizing the vulnerability of global positioning system based wide-area monitoring systems to external interferences. The article outlines the potential strategies that could be adopted to protect global positioning system receivers from external cyber-attacks and proposes decentralized defense strategies based on self-organizing sensor networks aimed at assuring correct time synchronization in the presence of external attacks

Red cell glucose-6-phosphate dehydrogenase deficiency and haemoglobin variants among ten endogamous groups of Maharashtra and West Bengal

Over 900 individuals from ten endogamous groups in the Indian states of Maharashtra and West Bengal were studied for G-6-PD deficiency and haemoglobin variants. The incidence of G-6-PD varied from nil to 17.3%, while that of Hb-S varied from nil to 22.3%. In general, the tribal populations of Maharashtra are characterized by the presence of a high incidence of both Hb-S and G-6-PD deficiency. The caste Hindus showed an absence of Hb-S and rather low G-6-PD deficiency. Immigrant Parsis possessed the highest incidence of G-6-PD deficiency (17.3%)

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients

In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in Indian SMA patients. Clinically and neurophysiologically diagnosed SMA patients were included in the study. A gene deletion study was carried out in 45 proximal SMA patients and 50 controls of the same ethnic group. Both SMN1 and NAIP genes showed homozygous absence in 76 % and 31 % respectively in proximal SMA patients. It is proposed that the lower deletion frequency of SMN1 gene in Indian patients may be due to mutations present in other genes or population variation, which need further study

Ageing Contributes to Phenotype Transition in a Mouse Model of Periodic Paralysis

Background: Periodic paralysis (PP) is a rare genetic disorder in which ion channel mutation causes episodic paralysis in association with hyper- or hypokalaemia. An unexplained but consistent feature of PP is that a phenotype transition occurs around the age of 40, in which the severity of potassium-induced muscle weakness declines but onset of fixed, progressive weakness is reported. This phenotype transition coincides with the age at which muscle mass and optimal motor function start to decline in healthy individuals. We sought to determine if the phenotype transition in PP is linked to the normal ageing phenotype transition and to explore the mechanisms involved. Methods: A mouse model of hyperkalaemic PP was compared with wild-type littermates across a range of ages (13–104 weeks). Only male mice were used as penetrance is incomplete in females. We adapted the muscle velocity recovery cycle technique from humans to examine murine muscle excitability in vivo. We then examined changes in potassium-induced weakness or caffeine contracture force with age using ex vivo muscle tension testing. Muscles were further characterized by either Western blot, histology or energy charge measurement. For normally distributed data, a student's t-test (± Welch correction) or one- or two-way analysis of variance (ANOVA) was performed to determine significance. For data that were not normally distributed, Welch rank test, Mann Whitney U test or Kruskal–Wallis ANOVA was performed. When an ANOVA was significant (P < 0.05), post hoc Tukey testing was used. Results: Both WT (P = 0.009) and PP (P = 0.007) muscles exhibit increased resistance to potassium-induced weakness with age. Our data suggest that healthy-old muscle develops mechanisms to maintain force despite sarcolemmal depolarization and sodium channel inactivation. In contrast, reduced caffeine contracture force (P = 0.00005), skeletal muscle energy charge (P = 0.004) and structural core pathology (P = 0.005) were specific to Draggen muscle, indicating that they are caused, or at least accelerated by, chronic genetic ion channel dysfunction. Conclusions: The phenotype transition with age is replicated in a mouse model of PP. Intrinsic muscle ageing protects against potassium-induced weakness in HyperPP mice. However, it also appears to accelerate impairment of sarcoplasmic reticulum calcium release, mitochondrial impairment and the development of core-like regions, suggesting acquired RyR1 dysfunction as the potential aetiology. This work provides a first description of mechanisms involved in phenotype transition with age in PP. It also demonstrates how studying phenotype transition with age in monogenic disease can yield novel insights into both disease physiology and the ageing process itself

The Temporal and Spatial Connectivity of the Gambles Mill Corridor, Richmond, VA

The City of Richmond and the Virginia Department of Transportation proposed to rehabilitate the Gambles Mill Trail connecting the University of Richmond (UR) to the intersection of Huguenot and River Road. Planners envision this trail as a sustainable model for the reduction of nutrient and sediment flow and as a vital path in a city-wide network of bike and pedestrian trails. Meanwhile, UR also proposes to rehabilitate the corridor in their new Master Plan. Nevertheless, until now, no substantive studies exist on the trail or the corridor linking the trail to the south side of the James River through the hazardous River-Huguenot Road intersection and the Huguenot Bridge currently under construction. The University of Richmond’s Geography 221 Course, Mapping Sustainability: Cartography and Geographic Information in an Environmental Context, is working with a variety of stakeholders (public, private, and community-based) to map the past, present, and future of the Gambles Mill Corridor and influence local and regional sustainability of transportation, hydrology, and recreation in a floodplain ecosystem. Students produce maps grouped around four scales: local corridor, UR to the River, a city scale sustainable transport network, and a temporal scale tracing previous transportation routes in the area such as the 1930s street car system and the colonial canal system.https://scholarship.richmond.edu/geography-posters/1001/thumbnail.jp

Association of Demographic and Early-Life Socioeconomic Factors by Birth Cohort With Dementia Incidence Among US Adults Born Between 1893 and 1949

Importance: Early-life factors may be important for later dementia risk. The association between a more advantaged early-life environment, as reflected through an individual’s height and socioeconomic status indicators, and decreases in dementia incidence by birth cohort is unknown. Objectives: To examine the association of birth cohort and early-life environment with dementia incidence among participants in the Adult Changes in Thought study from 1994 to 2015. Design, Setting, and Participants: This prospective cohort study included 4277 participants from the Adult Changes in Thought study, an ongoing longitudinal population-based study of incident dementia in a random sample of adults 65 years and older who were born between 1893 and 1949 and are members of Kaiser Permanente Washington in the Seattle region. Participants in the present analysis were followed up from 1994 to 2015. At enrollment, all participants were dementia-free and completed a baseline evaluation. Subsequent study visits were held every 2 years until a diagnosis of dementia, death, or withdrawal from the study. Participants were categorized by birth period (defined by historically meaningful events) into 5 cohorts: pre–World War I (1893-1913), World War I and Spanish influenza (1914-1920), pre–Great Depression (1921-1928), Great Depression (1929-1939), and World War II and postwar (1940-1949). Participants’ height, educational level, childhood financial stability, and childhood household density were examined as indicators of early-life environment, and later-life vascular risk factors for dementia were assessed. Cox proportional hazards regression models, adjusted for competing survival risk, were used to analyze data. Data were analyzed from June 1, 2018, to April 29, 2020. Main Outcomes and Measures: Participants completed the Cognitive Abilities Screening Instrument every 2 years to assess global cognition. Those with scores indicative of cognitive impairment completed an evaluation for dementia, with dementia diagnoses determined during consensus conferences using criteria from the Diagnostic and Statistical Manual of Mental Disorders, 4th edition. Results: Among 4277 participants, the mean (SD) age was 74.5 (6.4) years, and 2519 participants (58.9%) were women. The median follow-up was 8 years (interquartile range, 4-12 years), with 730 participants developing dementia over 24 378 person-years. The age-specific dementia incidence was lower for those born in 1929 and later compared with those born earlier. Compared with participants born in the pre–Great Depression years (1921-1928), the age- and sex-adjusted hazard ratio was 0.67 (95% CI, 0.53-0.85) for those born in the Great Depression period (1929-1939) and 0.62 (95% CI, 0.29-1.31) for those born in the World War II and postwar period (1940-1949). Although indicators of a more advantaged early-life environment and higher educational level (college or higher) were associated with a lower incidence of dementia, these variables did not explain the association between birth cohort and dementia incidence, which remained when vascular risk factors were included and were similar by sex. Conclusions and Relevance: Age-specific dementia incidence was lower in participants born after the mid-1920s compared with those born earlier. In this population, the decrease in dementia incidence may reflect societal-level changes or individual differences over the life course rather than early-life environment, as reflected through recalled childhood socioeconomic status and measured height, educational level, and later-life vascular risk

Armodafinil versus Modafinil in Patients of Excessive Sleepiness Associated with Shift Work Sleep Disorder: A Randomized Double Blind Multicentric Clinical Trial

Aim. To compare the efficacy and safety of armodafinil, the R-enantiomer of modafinil, with modafinil in patients of shift work sleep disorder (SWSD). Material and Methods. This was a 12-week, randomized, comparative, double-blind, multicentric, parallel-group study in 211 patients of SWSD, receiving armodafinil (150 mg) or modafinil (200 mg) one hour prior to the night shift. Outcome Measures. Efficacy was assessed by change in stanford sleepiness score (SSS) by at least 2 grades (responder) and global assessment for efficacy. Safety was assessed by incidence of adverse events, change in laboratory parameters, ECG, and global assessment of tolerability. Results. Both modafinil and armodafinil significantly improved sleepiness mean grades as compared to baseline (P < .0001). Responder rates with armodafinil (72.12%) and modafinil (74.29%) were comparable (P = .76). Adverse event incidences were comparable. Conclusion. Armodafinil was found to be safe and effective in the treatment of SWSD in Indian patients. The study did not demonstrate any difference in efficacy and safety of armodafinil 150 mg and modafinil 200 mg