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Background: Sotos syndrome is a genetic condition caused by NSD1 alterations, characterized by overgrowth, macrocephaly, dysmorphic features, and learning disability. Approximately half of children with Sotos syndrome develop seizures. We investigated the spectrum of seizure phenotypes in these patients. Methods: Patients were recruited from clinics and referral from support groups. Those withclinical or genetic diagnosis of Sotos syndrome and seizures were included. Phenotyping data was collected via structured clinical interview and medical chart review. Results: 25 patients with typical Sotos syndrome features were included. Of 14 tested patients, 64% (n=9) had NSD1 alterations. Most had developmental impairment (80%, n=20) and neuropsychiatric comorbidities (68%, n=17). Seizure onset was variable (2 months to 12 years). Febrile and absence seizures were the most frequent types (64%, n=16). Afebrile generalized tonicclonic (40%, n=10) and atonic (24%, n=6) seizures followed. Most patients (60%, n=15) had multiple seizure types. The majority (72%, n=18) was controlled on a single antiepileptic, or none; 4% (n=1) remained refractory to antiepileptics. Conclusions: The seizure phenotype in Sotos syndrome most commonly involves febrile convulsions or absence seizures. Afebrile tonic-clonic or atonic seizures may also occur. Seizures are typically well-controlled with antiepileptics. The rate of developmental impairment and neuropsychiatric comorbidities is high.
The 9th meeting of the African Society of Human Genetics, in partnership with the Senegalese Cancer Research and Study Group and the Human Heredity and Health in Africa (H3Africa) Consortium, was held in Dakar, Senegal. The theme was Strengthening Human Genetics Research in Africa. The 210 delegates came from 21 African countries and from France, Switzerland, UK, UAE, Canada and the USA. The goal was to highlight genetic and genomic science across the African continent with the ultimate goal of improving the health of Africans and those across the globe, and to promote the careers of young African scientists in the field. A session on the sustainability of genomic research in Africa brought to light innovative and practical approaches to supporting research in resource-limited settings and the importance of promoting genetics in academic, research funding, governmental and private sectors. This meeting led to the formation of the Senegalese Society for Human Genetics.
Background: Epileptic encephalopathy (EE) is a severe condition in which epileptic activity itself may contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. Next generation sequencing technologies such as whole exome sequencing (WES) can detect underlying genetic causes of in EE. Methods: This report describes genotype-phenotype correlation of 29 subjects with unexplained epileptic encephalopathy, in whom WES, targeting a list of 557 epilepsy-associated genes was performed. Epilepsy phenotyping was done according to current ILAE recommendations. Results: Median age at seizure onset was 14 months (range 1-48). Electroclinical syndromes were applicable for 16/29, 8/16 had a definite/likely diagnosis. 6/8 subjects with West syndrome had variants in ALG13, STXBP1, PAFAH1B1, SLC35A2, CDKL5 and ADSL. 2 patients with Dravet syndrome had variants in SCN1A and PCDH19 respectively. 4/29 had unspecified EE and definite/likely diagnosis due to STXBP1, POLG, and KCNQ2 (2) variants. 4/29 had a possible diagnosis involving GABRB3, ARHGEF9, PCDH19 and SCN3A variants. Conclusions: The high diagnostic yield (definite/likely diagnosis in 11/29 = 38%), involving a broad variety of epilepsy-associated genes in different electroclinical syndromes justifies the diagnostic approach of early onset EE by next generation sequencing.
The lower dielectric constant (k) insulator is required for faster, smaller, and higher performance integrated circuit of the microprocessor and other advanced semiconductor devices that are so important to modern electronics and information technologies. Aromatic polyimides are among the candidate materials of low k due to their high thermal stability, mechanical strength and chemical resistance.
In this work, we show an 2,6-di-tert-butyl-9,10-diphenylanthracene core based novel polyimide which has been designed to have the lower polar imide concentration compared to that of conventional polyimides as well as the synthesis and characterization of its constitutional units, diamine and dianhydride.
SI GaAs crystals submitted to single- or multi-step, ingot-or wafer-annealing are investigated using photoluminescence (PL) and photoacoustic spectroscopy (PA). The near-band-edge PL transitions are well resolved, with a neutral acceptor-bound exciton recombination displayed as a split doublet. The improvement induced by wafer-annealing is illustrated by the absence of additional defect-related transitions found after ingot-annealing. For the room temperature PA measurements, the intensity of a peak occuring at 1.39 eV is shown to lead to an estimation of the arsenic micro-defect density as evaluated by AB etching. The 1.39 eV PA band is also asserted to be the non-radiative recombination path of a 1.482 eV band found in the low-temperature PL spectra.
Ordered mesoporous silica (OMS) adsorbents were prepared by grafting amino, carboxylic and thiol-containing functional groups onto MCM-41 for the selective removal of dye and metal pollutants from wastewater. The amino containing OMS-NH2 adsorbent has a large adsorption capacity and a strong affinity for the Acid blue 25. It can selectively remove Acid blue 25 from a mixture of dyes (i.e., Acid blue 25 and Methylene blue). The OMS-COOH is a good adsorbent for Methylene blue displaying excellent adsorption capacity and selectivity for the dye. The chemically modified OMS adsorbents were also tested for the selective removal and recovery of metals (i.e., lead and copper). The OMS-SH adsorbent can selectively remove lead from solutions containing Pb2+ and Cu2+ ions, whereas the OMS-NH2 selectively adsorbed a large quantity of copper. The selectivity of the adsorbents for lead and copper is strongly influenced by pH. Indeed, by simply adjusting the pH, OMS-NH2 can adsorb mainly lead or copper from a mixture containing both metals.
The efficiencies of hydrogenated polymorphous silicon (pm-Si:H) solar cells have been previously demonstrated to show superior stability under light-soaking. This stability arises due to the fact that the decrease they show in fill factor (FF) is partially offset by an accompanying increase in open circuit voltage (VOC). Recently, high-deposition rate (9Å/s) pm-Si:H material deposited by standard RF-PECVD at 13.56MHz has been investigated as the intrinsic layer in photovoltaic modules as it has shown excellent electronic properties. The degradation behaviour of these high-deposition rate cells, however, differs significantly from that of lower deposition rate material. In particular, no beneficial increase in Voc is observed during light soaking. We investigate the degradation dynamics of solar cells made from this high growth rate material using a Variable Illumination Method (VIM) during light soaking to quantify the changes to these high-rate cells during light-soaking and directly contrast them with those of low-rate (1.5Å/s) cells. In particular, we discuss the importance of bulk recombination effects vs interface quality changes, as well as the dynamics of changes in VOC.
We investigated the degradation mechanism of GaN LEDs due to the application of a high d.c. stressing current. To identify the underlying process for device failure we examined the effects of the InGaN quantum well growth parameters on the hot-electron hardness of the devices. Systematic characterizations on the degradations in the microstructural, thermoreflectance, and low frequency noise properties of the devices were performed.
The nonlinear stability of two-phase core-annular flow in a cylindrical pipe is studied. A constant pressure gradient drives the flow of two immiscible liquids of different viscosities and equal densities, and surface tension acts at the interface separating the phases. Insoluble surfactants are included, and we assess their effect on the flow stability and ensuing spatio-temporal dynamics. We achieve this by developing an asymptotic analysis in the limit of a thin annular layer – which is usually the relevant regime in applications – to derive a coupled system of nonlinear evolution equations that govern the dynamics of the interface and the local surfactant concentration on it. In the absence of surfactants the system reduces to the Kuramoto–Sivashinsky (KS) equation, and its modifications due to viscosity stratification (present when the phases have unequal viscosities) are derived elsewhere. We report on extensive numerical experiments to evaluate the effect of surfactants on KS dynamics (including chaotic states, for example), in both the absence and the presence of viscosity stratification. We find that chaos is suppressed in the absence of viscosity differences and that the new flow consists of successive windows (in parameter space) of steady-state travelling waves separated by time-periodic attractors. The intricate structure of the travelling pulses is also explained physically. When viscosity stratification is present we observe a transition from time-periodic dynamics, for instance, to steady-state travelling wave pulses of increasing amplitudes and speeds. Numerical evidence is presented that indicates that the transition occurs through a reverse Feigenbaum cascade in phase space.
Frontal and basal ganglia infarcts and executive dysfunction are thought to be involved in the pathophysiology of poststroke emotional incontinence (PSEI). The study examined whether patients with PSEI have more frontal and/or basal ganglia infarcts and impairment in executive function. A total of 516 Chinese patients with acute ischemic stroke consecutively admitted to the acute stroke unit of a university-affiliated regional hospital in Hong Kong were screened for PSEI 3 months after the index stroke. According to Kim’s criteria, 39 (7.6%) had PSEI. Thirty-nine stroke patients without PSEI served as matched control group. The PSEI group had significantly more frontal and/or basal ganglia infarcts, had lower Chinese Frontal Assessment Battery scores, required more time to complete the Stroop Test, and made more omission and commission errors in the Go–NoGo test. There was no significant correlation between frontal or basal ganglia infarcts and executive function. The correlation between frontal infarct and severity of PSEI was .420. Further follow-up and functional imaging studies are warranted to explore the relationship between PSEI, brain infarcts, and executive dysfunction. (JINS, 2009, 15, 62–68.)
Background. The global toll of suicide is estimated to be one million lives per year, which exceeded the number of deaths by homicide and war combined. A key step to suicide prevention is to prevent less serious suicidal behaviour to preclude more lethal outcomes. Although 61% of the world's suicides take place in Asia and the suicide rates among middle age groups have been increasing since the economic crisis in many Asian countries, population-based studies of suicidal behaviour among working-age adults in non-western communities are scarce.
Method. Data from a population-based survey with 2015 participants were used to estimate the prevalence of suicidal ideation and behaviour among the working-age population in Hong Kong, and to study the associated socio-economic and psychological correlates. We focused particularly on potential modulating factors between life-event-related factors and suicidal ideation.
Results. Six per cent of the Hong Kong population aged 20–59 years considered suicide in the past year, while 1·4% attempted suicide. Hopelessness, reasons for living, and reluctance to seek help from family and friends had direct association with past-year suicidal ideation. Reasons for living were found to moderate the effect of perceived stress on suicidal ideation.
Conclusions. Suicidality is a multi-faceted problem that calls for a multi-sectored, multi-layered approach to prevention. Prevention programmes can work on modulating factors such as reasons for living to reduce suicidal risk in working-age adults.
China is the only country in which the suicide rate is higher among women
than men. We provide a demographic perspective on the gender differential in
suicide in China. This shows that the male/female ratio of suicide increased
between 1991 and 2001 and there is reason to believe this trend will
continue. Among the population subgroups, only young women living in rural
areas had much higher suicide rates than their male counterparts. It is
argued that consideration of the gender ratio of suicide in China must take
age-, gender- and region-specific suicide patterns and the population
structure into account. The increasing urbanisation of China is likely to be
associated with more male suicides and we predict that before long the male
suicide rate will overtake that of females.