Miracle-dz/UniFAR-FTUs huggingface dataset:
SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome.

AIM We wished to identify markers associated with allelic nondisjunction in nuclear families with Down syndrome (DS) offspring. Since the GRIK1 and GARS-AIRS-GART genes, mapping to chromosome 21q22.1, may be informative in this regard, we genotyped four single-nucleotide polymorphisms [30952599(A/G) rs363484; 30924733(A/G) rs363506; 34901423(A/G) rs2834235; 34877070(A/G) rs7283354] present in these genes using the SNaPshot(™) assay protocol. RESULTS We have reported 30952599(A/G)-rs363484 to be monomorphic in our sample population. Genotyping revealed 35/65 families to be informative for 34877070(A/G)-rs7283354 (GARS-AIRS-GART), whereas only 25/65 and 11/65 are informative for 34901423(A/G)-rs2834235 (GARS-AIRS-GART) and 30924733(A/G)-rs363506 (GRIK1) polymorphisms, respectively. The parent- and stage-of-origin of nondisjunction could be traced in 48/65 families using at least one polymorphic marker. A single trio provided internal validation for assignment of the parent- and stage-of-origin of nondisjunction whereby the nondisjoining alleles were independently identified as G-rs363506, G-rs2834235, and G-rs7283354, respectively. An enhanced ratio of meiosis-I to meiosis-II errors during maternal or paternal meioses accounts for allelic nondisjunction. CONCLUSIONS The SNaPshot assay is quantitative and permits multiplexing for detection of allelic nondisjunction. Inclusion of additional informative chromosome 21-specific markers may aid rapid aneuploidy detection, screening, and prenatal counseling of parents at risk of having babies with DS.
An Interval Parameter Two-Stage Stochastic Approach to Optimize Budgetand Schedule in Construction Management

An interval parameter two-stage stochastic model for project budgeting and scheduling is developed to dealing with the uncertainties residing in the project management. The model focuses on the probability distribution in activity durations and the uncertainties expressed as intervals in costs. It minimizes the inexact costs (direct costs, indirect costs and penalties) with reference to the specified project completion time and the durations of activities estimated from two-stage stochastic programming. The proposed approach for budgeting and scheduling is a hybrid of two stage stochastic programming and inexact optimization. Solutions obtained from the model will provide a reasonable crashing time plan to accomplish given projects on specific time and come up a lowest cost plan for tardiness. This approach can effectively reflect the interactive relationships among all the uncertain system components. The plan provides useful decision support for project managers through these post-optimality analyses. The developed model is applied to a case study to illustrate its feasibility of dealing the actual project management decision problems. The paper implements the model to a gas pipeline construction project with specified completion time and milestone allocating tasks as the case study. The proposed model provides a systematic framework that facilitates the decision making process and enable project managers to justify the range of the solutions when the decision variables are intervals.
Effects of Dairy Fats within Different Foods on Plasma Lipids

This review considers within the epidemiology of dairy fats and cardiovascular risk including the effects of 1. Fats within different dairy foods, 2. Specific dairy fatty acids including ruminant trans fats (TFA), conjugated linoleic acid (CLA), myristic acid and 3. The influence of metabolic syndrome.
Developmental Neurotoxicity of Alcohol and Anesthetic Drugs Is Augmented by Co-Exposure to Caffeine

Anesthetic and anti-epileptic drugs used in pediatric and obstetric medicine and several drugs, including alcohol, that are abused by pregnant women, trigger widespread neuroapoptosis in the developing brain of several animal species, including non-human primates. Caffeine (CAF) is often administered to premature infants to stimulate respiration, and these infants are also exposed simultaneously to anesthetic drugs for procedural sedation and/or surgical procedures. Pregnant women who abuse alcohol or other apoptogenic drugs also may heavily consume CAF. We administered CAF to infant mice alone or in combination with alcohol, phencyclidine, diazepam, midazolam, ketamine, or isoflurane, which are drugs of abuse and/or drugs frequently used in pediatric medicine, and found that CAF weakly triggers neuroapoptosis by itself and markedly potentiates the neuroapoptogenic action of each of these other drugs. Exposure of infant mice to CAF + phencyclidine resulted in long-term impairment in behavioral domains relevant to attention deficit/hyperactivity disorder, whereas exposure to CAF + diazepam resulted in long-term learning/memory impairment. At doses used in these experiments, these behavioral impairments either did not occur or were substantially less pronounced in mice exposed to CAF alone or to phencyclidine or diazepam alone. CAF currently enjoys the reputation of being highly beneficial and safe for use in neonatal medicine. Our data suggest the need to consider whether CAF may have harmful as well as beneficial effects on the developing brain, and the need for research aimed at understanding the full advantage of its beneficial effects while avoiding its potentially harmful effects.
Cost-Performance of Fault Tolerance in Cloud Computing

As more computation moves into the highly dynamic and distributed cloud, applications are becoming more vulnerable to diverse failures. This paper presents a unied analytical model to study the cost-performance tradeos of fault tolerance in cloud applications. We compare four main checkpoint and recovery techniques, namely, coordinated checkpointing, and uncoordinated checkpointing such as pessimistic sender-based message logging, pessimistic receiverbased message logging (PR), and optimistic receiver-based message logging (OR). We focus on how application size, checkpointing frequency, network latency, and mean time between failures inuence the cost of fault tolerance, expressed in terms of percentage increase in application execution time. We further study the cost of fault tolerance in cloud applications with high probability of failure, network latency and message communication among executing processes (virtual machines). Our analysis shows that the cost of fault tolerance for both OR and PR is around 5% for the range of application size (32 to 4,096 processes or virtual machines), checkpointing frequency (one checkpoint per minute to one checkpoint per hour) and network latency (Myrinet to Internet) evaluated. For a cloud with high network latency, the cost of fault tolerance is about 5% in both OR and PR, but when failure probability is low, OR is a suitable choice and when failures are more frequent, PR is a better candidate.
Excitatory Actions of Endogenously Released GABA Contribute to Initiation of Ictal Epileptiform Activity in the Developing Hippocampus

In the developing rat hippocampus, ictal epileptiform activity can be elicited easily in vitro during the first three postnatal weeks. Changes in neuronal ion transport during this time cause the effects of GABAA receptor (GABAA-R) activation to shift gradually from strongly depolarizing to hyperpolarizing. It is not known whether the depolarizing effects of GABA and the propensity for ictal activity are causally linked. A key question is whether the GABA-mediated depolarization is excitatory, which we defined operationally as being sufficient to trigger action potentials. We assessed the effect of endogenous GABA on ictal activity and neuronal firing rate in hippocampal slices from postnatal day 1 (P1) to P30. In extracellular recordings, there was a strong correlation between the postnatal age at which GABAA-R antagonists decreased action potential frequency (P23) and the age at which ictal activity could be induced by elevated potassium (P23). In addition, there was a strong correlation between the fraction of slices in which ictal activity was induced by elevated potassium concentrations and the fractional decrease in action potential firing when GABAA-Rs were blocked in the presence of ionotropic glutamate receptor antagonists. Finally, ictal activity induced by elevated potassium was blocked by the GABAA-R antagonists bicuculline and SR-95531 (gabazine) and increased in frequency and duration by GABAA-R agonists isoguvacine and muscimol. Thus, the propensity of the developing hippocampus for ictal activity is highly correlated with the effect of GABA on action potential probability and reversed by GABAA antagonists, indicating that GABA-mediated excitation is causally linked to ictal activity in this developmental window.
A Novel SNOS Gate-Controlled, Normally-Off p-i-n Switch

A novel silicon-nitride-oxide-silicon (SNOS) gate-controlled, normally-off p-i-n switch (SGPINS) is proposed and experimentally demonstrated. The normally-off of the SGPINS is implemented by using a fully depleted n--channel region that is controlled by an SNOS trench gate. The device has a threshold voltage of 7 V and an avalanche breakdown voltage of ~1000 V. ON-state voltage drop of the SGPINS is 1.7 V, and is ~0.6 V lower than that of an IGBT with the same non-punch-through structure, resulting in ~26% reduction in the conduction loss.
Cytolytic activity of murine CD4+ T cell clones correlates with IFN-gamma production in mouse strains having a BALB/c background.

CD4+ murine T cell clones were derived from various strains of mice, and their pattern of lymphokine secretion and cytolytic activity was compared. Limiting dilution cultures were established with lymph node cells from mice sensitized with OVA. Alloreactive CD4+ T cell clones also were derived in limiting dilution cultures prepared with naive BALB/c-H-2dm2 lymph node cells stimulated with irradiated BALB/c splenocytes. A total of 24 days elapsed between establishment of cultures and analysis of lymphokine production and cytolytic activity. Cytolytic capacity was assessed by using target cells that had been pulsed with Ag or coated with anti-CD3 mAb. We observed that: 1) the frequency of OVA-reactive T cells from various mouse strains was approximately the same; 2) both Th1 and Th2 cells as well as cells not encompassed within these categories could be lytic if derived from DBA/2, B10.D2, B10.A, C57BL/10, or C57BL/6 mice; and 3) the vast majority of CD4+ cloned T cells derived from BALB/c, BALB/c-H-2dm2, BALB.B, or BALB.K that did not produce IFN-gamma (including Th2 cells) did not exhibit cytolytic activity, whereas most clones derived from these strains that produced IFN-gamma were cytolytic. These observations indicate that both Th1 and Th2 cells from several mouse strains express cytolytic activity. Such cytolytic activity was not restricted to clones maintained in long term cultures. However, genes outside the MHC appeared to regulate the cytolytic activity of T cells. In particular, CD4+ T cell clones which did not produce IFN-gamma were not cytolytic when they were derived from BALB/c mice and mutant or MHC congenic inbred mice having a BALB background. Cytolytic activity of CD4+ T cells, in addition to the pattern of lymphokine production, may be important in graft rejection and in immune responses to infectious diseases.
A comparison of a Gaussian and a binary ancestral graph model

For an ancestral graph with four vertices, we show that the associated binary model exhibits different properties than the previously studied Gaussian analog. The Gaussian likelihood function may be multimodal, whereas the likelihood function of the binary model is guaranteed to be unimodal. Canonical hidden variable models associated with ancestral graph models impose additional polynomial constraints of non-independence type in the binary case, but no additional constraints in the Gaussian case. Running title: Gaussian and binary ancestral graph models
Clinical Data as an Adjunct to Ultrasound Reduces the False-Negative Malignancy Rate in BI-RADS 3 Breast Lesions

Abstract Purpose: Ultrasound (US) is a well-established diagnostic procedure for breast examination. We investigated the malignancy rate in solid breast lesions according to their BI-RADS classification with a particular focus on false-negative BI-RADS 3 lesions. We examined whether patient history and clinical findings could provide additional information that would help determine further diagnostic steps in breast lesions. Materials and Methods: We conducted a retrospective study by exploring US BI-RADS in 1469 breast lesions of 1201 patients who underwent minimally invasive breast biopsy (MIBB) from January 2002 to December 2011. Results: The overall sensitivity and specificity of BI-RADS classification was 97.4% and 66.4%, respectively, with a positive (PPV) and negative predictive value (NPV) of 65% and 98%, respectively. In 506 BI-RADS 3 lesions, histology revealed 15 malignancies (2.4% malignancy rate), which corresponds to a false-negative rate (FNR) of 2.6%. Clinical evaluation and patient requests critically influenced the further diagnostic procedure, thereby prevailing over the recommendation given by the BI-RADS 3 classification. Conclusion: Clinical criteria including age, family and personal history, clinical examination, mammography and patient choice ensure adequate diagnostic procedures such as short-term follow-up or MIBB in patients with lesions classified as US-BI-RADS 3.
Working longer in good health [Langer doorwerken in goede gezondheid]

Due to an ageing society, an increasing retirement age, and high prevalence of chronic health problems among older persons, it is important to understand how older employees [with health problems] can work for longer and productively, often this is termed ‘sustainable employability’. This context brought about the research presented in this thesis, financed by the Department of Public Health of the Erasmus MC and the Netherlands Organisation for Applied Scientific Research TNO. The longitudinal questionnaire study ‘STREAM’ (Study on Transitions in Employment, Ability and Motivation) was the basis for the research (www.tno.nl/stream). STREAM was financed by the Dutch Ministry of Social Affairs and Employment. Due to an ageing society, an increasing retirement age, and high prevalence of chronic health problems among older persons, it is important to understand how older employees [with health problems] can work for longer and productively, often this is termed ‘sustainable employability’. This context brought about the research presented in this thesis, financed by the Department of Public Health of the Erasmus MC and the Netherlands Organisation for Applied Scientific Research TNO. The longitudinal questionnaire study ‘STREAM’ (Study on Transitions in Employment, Ability and Motivation) was the basis for the research (www.tno.nl/stream). STREAM was financed by the Dutch Ministry of Social Affairs and Employment. The main conclusions of the thesis are as follows: Highly engaged workers have greater improvement in physical and especially mental health during one-year follow-up than less engaged workers. Employees with an active, non-avoidant, coping style have a better work ability than employees with a non-active and avoidant coping style. Poor health adversely affects sustainable employability, this is especially the case for psychological health problems. However, favourable psychosocial work-related factors play an essential role, such as high autonomy and social support. These factors have a positive influence on sustainable employability, especially for workers with health problems. In conclusion, especially the promotion of favourable psychosocial work-related factors has the potential to greatly reduce that adverse health effects on sustainable employability.
Étude des mécanismes associés aux effets bénéfiques de la restriction calorique sur la fonction somatotrope du rat vieillissant.

Long-term moderate caloric restriction (LTMCR) is a powerful intervention to delay age-related health deterioration. In this study, the effects of 40% caloric restriction (CR), implemented at 8 months with or without protein restriction, and 40% dietary protein restriction alone, implemented at 2 months, were examined on pituitary growth hormonereleasing hormone receptor (GHRH-R) and GHRH sensitivity in 12to 20-month-old male Sprague Dawley rats. An increase of the 4-kb GHRH-R mRNA transcript and 4 kb/2.5 kb ratio, the blunting of high affinity GHRH binding sites and a decrease in GHRH-induced cAMP production were observed in old rats. Only 40% CR maintained youthful levels of GHRH-R transcripts and GHRH binding parameters as well as maximal GHRH-induced cAMP production. Moreover, the GHRH-induced capacity of somatotrophs to synthesize/repair DNA in vitro, in the presence of moderate glucotoxic stress (12 mM Dglucose), was maintained in old CR rats. Among the hormonal and metabolic regulators of GHRH-R that were modified by LTMCR, glucose, free fatty acids (FFA) and glucocorticoids represent promising candidates for future investigation. A better understanding of the molecular and cellular mechanisms by which they regulate the pituitary GHRH-R should help define strategies to mimic the beneficial effects of LTMCR by less demanding interventions.
Efficient Autarkies

Autarkies are partial truth assignments that satisfy all clauses having literals in the assigned variables. Autarkies provide important information in the analysis of unsatisfiable formulas. Indeed, clauses satisfied by autarkies cannot be included in minimal explanations or in minimal corrections of unsatisfiability. Computing the maximum autarky allows identifying all such clauses. In recent years, a number of alternative approaches have been proposed for computing a maximum autarky. This paper develops new models for representing autarkies, and proposes new algorithms for computing the maximum autarky. Experimental results, obtained on a large number of problem instances, show orders of magnitude performance improvements over existing approaches, and solving instances that could not otherwise be solved.
Internet2 QBone: building a testbed for differentiated services

The Internet2 project is a partnership of over 130 U.S. universities, 40 corporations, and 30 other organizations. Since its inception, one of the primary technical objectives of Internet2 has been to engineer scalable, interoperable, and administrable interdomain QoS to support an evolving set of new advanced networked applications. Applications like distance learning, remote instrument access and control, advanced scientific visualization, and networked collaboratories will allow universities to fulfill their research and education missions into the future, but only if the network QoS these applications require can be ensured. To meet this challenge, the Internet2 QBone initiative has brought together a dedicated group of U.S. university and federal agency networks, international research networks, engineers, researchers, and applications developers to build a testbed for interdomain IP differentiated services. This article presents the engineering motivations behind DiffServ and its adoption by Internet2, provides an overview of the QBone architecture, and describes its anticipated deployment, including plans for a trial inter-domain bandwidth brokering architecture. Security aspects are considered togethered together with an inter-bandwidth broker reservation signaling protocol.
Distributed consensus based optimization in dynamical economic dispatch

The dynamical economic dispatch problem is studied and reformulated by a distributed interior point method via a logarithmic barrier. By the facilitation of the graph Laplacian, a fully distributed primal-dual dynamical multiagent system is developed in a smart grid scenario to seek the saddle point of dynamical economic dispatch which coincides with the optimal solution. Specifically, to avoid high singularity of the θ-logarithmic barrier at boundary, an adaptive parameter switching strategy is introduced into this dynamical multiagent system. The convergence rate of the distributed algorithm is obtained. The good performance of this new dynamical system is verified by the IEEE 6-bus test system based simulation.
Annals of the New York Academy of Sciences When Right Is All That Is Left: Plasticity of Right-hemisphere Tracts in a Young Aphasic Patient

Using an adapted version of Melodic Intonation Therapy (MIT), we treated an adolescent girl with a very large left-hemisphere lesion and severe nonfluent aphasia secondary to an ischemic stroke. At the time of her initial assessment 15 months after her stroke, she had reached a plateau in her recovery despite intense and long-term traditional speech-language therapy (approximately five times per week for more than one year). Following an intensive course of treatment with our adapted form of MIT, her performance improved on both trained and untrained phrases, as well as on speech and language tasks. These behavioral improvements were accompanied by functional MRI changes in the right frontal lobe as well as by an increased volume of white matter pathways in the right hemisphere. No increase in white matter volume was seen in her healthy twin sister, who was scanned twice over the same time period. This case study not only provides further evidence for MIT's effectiveness, but also indicates that intensive treatment can induce functional and structural changes in a right-hemisphere fronto-temporal network.
Respiratory comorbidity in South African children with atopic dermatitis.

BACKGROUND Atopic dermatitis (AD) is an early and important step in the propagation of the allergic march, enhancing food and respiratory allergies via epicutaneous sensitisation to allergens. OBJECTIVES To determine the prevalence and patterns of aeroallergen sensitisation, asthma and allergic rhinitis in South African (SA) children with AD. METHODS This was a prospective, observational study in a paediatric university hospital in Cape Town, SA. Children with moderate to severe AD, aged 6 months - 10 years, were recruited randomly and investigated for food sensitisation and allergy. They were assessed for sensitisation to aeroallergens by the immuno solid-phase allergen chip test. House-dust mite DerP and DerF, dust mite Eur m, Timothy grass, Bermuda grass, tree pollen, mould (Alternaria), cat and dog sensitisation patterns were analysed. Symptoms of asthma and allergic rhinitis were elicited using a questionnaire modified from the International Study of Asthma and Allergies in Childhood study questions. RESULTS One hundred participants (59 black Africans and 41 of mixed ethnicity) were enrolled (median age 42 months). Of the participants, 39% had symptoms of asthma and 53% symptoms of allergic rhinitis; 89% tested positive to at least one aeroallergen, most commonly house-dust mite DerP or DerF (81%), dust mite Eur m (51%), Timothy grass (36%) and cat (35%). Asthma, allergic rhinitis and aeroallergen sensitisation all increased with increasing age, while food allergy decreased with age. Food allergy was not an independent risk factor for respiratory allergies. Children were sensitised to indoor allergens (house-dust mite, pets) from an early age, while pollen allergies increased with age. CONCLUSIONS In this cohort of SA children with moderate to severe AD, comorbidity with respiratory allergies was high. The prevalence of respiratory allergies increased with age while food allergy decreased with age, in keeping with the pattern of the allergic march. Seasonal allergies increased with age, while house-dust mite and pet allergy peaked in younger children, in keeping with early exposure via a defective skin barrier. Early and effective restoration of the skin barrier in AD may be a target for reducing aeroallergen-related diseases.