Miracle-dz/UniFAR-FTUs huggingface dataset:
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations

Chromosomal microarray (CMA) has significantly improved diagnosing copy number variations (CNVs). Single nucleotide polymorphism (SNP) arrays confer additional utility in detecting regions of homozygosity (ROH). Investigating ROH for genes associated with recessive disorders for follow‐up sequencing can aid in diagnosis. In this study, we performed a retrospective review of clinical and molecular data for 227 individuals from a highly consanguineous population who previously had a CMA. Pathogenic CNVs were identified in 32 (14%) cases; ROH suggesting uniparental disomy (UPD) in three (1%) cases, and an additional 25 (11%) individuals were diagnosed with recessive disorders caused by mutations in ROH candidate genes, thereby increasing the CMA diagnostic yield to 26%. Among the 25 individuals with recessive diseases, 18 had novel mutations in 16 genes (ASPM, SPINK5, QARS, MEGF10, SPATA7, GMPPA, ABCA4, SRD5A2, RPGRIP1L, MET, SLC12A6, ALDH1A3, TNFRSF11A, FLNB, PHGDH, and FKBP10) including five with phenotypic expansion.
Effect of Personality on Fraud Detection: The Malaysian Case

Auditing standards require external auditors to provide reasonable assurance that the financial statements are free from material misstatements, either due to fraud or error. Inability of the external auditors to detect the material misstatements, particularly fraud, may expose them to litigation. The present study aims to examine the effect of personality factors (i.e., neuroticism, extraversion, conscientiousness, openness to experience and agreeableness) on the external auditors' ability to detect the likelihood of fraud. An experimental approach is adopted by sending case materials to audit partners and audit managers attached to auditing firms operating in Malaysia. The result shows that personality does not have a positive effect on the external auditors' ability to detect the likelihood of fraud.
Chronic localized intravascular coagulation complicating multifocal venous malformations

We present two female children aged 7 years with extensive multifocal venous malformations complicated by chronic localized intravascular coagulation. In both cases ultrasonography and magnetic resonance imaging revealed extensive venous malformations involving the skin, mucous membranes and pharynx, which were not apparent on clinical examination. Haematological investigations demonstrated persistent elevation of the D‐dimer, consistent with chronic localized intravascular coagulation. The course of one patient was complicated by the development of multiple painful thromboses at distant sites following percutaneous sclerotherapy. Persistent elevation of the D‐dimer occurring in association with large venous and veno‐lymphatic malformations has been termed chronic localized intravascular coagulation, and is thought to occur due to thrombosis at sites of stagnant blood flow within venous malformations. It is of clinical concern due to the potential for transformation into serious thrombohaemorrhagic coagulation disorders, including disseminated intravascular coagulation. While previously described in association with large segmental venous malformations, these cases demonstrate the occurrence of chronic localized intravascular coagulation as a complication of disseminated multifocal venous malformations.
Ischemic preconditioning and clinical scenarios.

PURPOSE OF REVIEW Ischemic preconditioning (IPC) is gaining attention as a novel neuroprotective therapy and could provide an improved mechanistic understanding of tolerance to cerebral ischemia. The purpose of this article is to review the recent work in the field of IPC and its applications to clinical scenarios. RECENT FINDINGS The cellular signaling pathways that are activated following IPC are now better understood and have enabled investigators to identify several IPC mimetics. Most of these studies were performed in rodents, and efficacy of these mimetics remains to be evaluated in human patients. Additionally, remote ischemic preconditioning (RIPC) may have higher translational value than IPC. Repeated cycles of temporary ischemia in a remote organ can activate protective pathways in the target organ, including the heart and brain. Clinical trials are underway to test the efficacy of RIPC in protecting brain against subarachnoid hemorrhage. SUMMARY IPC, RIPC, and IPC mimetics have the potential to be therapeutic in various clinical scenarios. Further understanding of IPC-induced neuroprotection pathways and utilization of clinically relevant animal models are necessary to increase the translational potential of IPC in the near future.
Dynamic Thermal Clock Skew Compensation Using Tunable Delay Buffers

The thermal gradients existing in high-performance circuits may significantly affect their timing behavior, in particular, by increasing the skew of the clock net and/or altering hold/setup constraints, possibly causing the circuit to operate incorrectly. The knowledge of the spatial distribution of temperature can be used to properly design a clock network that is able to compensate such thermal non-uniformities. However, redesign of the clock network is effective only if temperature distribution is stationary, i.e., does not change over time. In this paper, we specifically address the problem of dynamically modifying the clock tree in such a way that it can compensate for temporal variations of temperature. This is achieved by exploiting the buffers that are inserted during the clock network generation, by transforming them into tunable delay elements. Temperature-induced delay variations are then compensated by applying the proper tuning to the tunable buffers, which is computed offline and stored in a tuning table inserted in the design. We propose an algorithm to minimize the number of inserted tunable buffers, as well as their tunable range (which directly relates to complexity). Results show that clock skew is kept within original bounds with worst-case power and area penalty of 3.5% and 5.5% respectively.
Cashback Is Cash Forward: Delaying a Discount to Entice Future Spending

The authors examine purchase behavior in the context of cashback shopping—a novel form of price promotion online in which consumers initiate transactions at the website of a cashback company and, after a significant delay, receive the savings promised to them. Specifically, they analyze panel data from a large cashback company and show that, independent of the predictable effect of cashback offers on initial demand, cashback payments (1) increase the probability that consumers will make an additional purchase via the website of the cashback company and (2) increase the size of that purchase. These effects pass several robustness checks and are also meaningful: At average values in the data, an additional $1.00 in cashback payment increases the likelihood of a future transaction by . 02% and spending by $. 32—figures that represent 10.03% of the overall impact of a given promotion. Moreover, the authors find that consumers are more likely to spend the money returned to them at generalist retailers, such as department stores, than at other retailers. They consider three explanations for these findings; the leading hypothesis is that consumers fail to treat money as a fungible resource. They also discuss implications for cashback companies and retailers.
The impact of organizational culture on creativity and innovation

In a hyper-competitive business environment will survive and succeed only those enterprises that are able to come up with a new ideas and/or unique products or applications. Creativity goes hand in hand with innovation; higher creativity leads to more innovation. Developing organizational culture that stimulates and promotes creativity and innovation is an imperative for organizations seeking a competitive advantage. The paper examines the relationship between culture (selected elements), creativity and innovation. Based on primary data obtained in a questionnaire survey conducted in Slovak organizations there were found associations between all the (pairs of) variables. The strongest association was measured between the atmosphere of psychological safety in the workplace and employees' willingness to produce new ideas and between interpersonal relationships in the workplace and individual creativity.
Experimental Visualization of Ion Thruster Neutralization Phenomena

Understanding of neutralization phenomena is important to develop ion thrusters with higher efficiency and durability. A 2-D ion thruster with a miniature microwave neutralizer was visualized in this paper to investigate neutralization phenomena. The thruster can emit bright sheet-shaped ion beams. The neutralizer current can be controlled by the supplied microwave power. Observation of the downstream region and measurements of the currents and potential confirmed that insufficient neutralizer current increased the ion beamwidth, space potential increase in the downstream region, and semicircular luminescence zone formation in the region. These phenomena imply the 2-D formation of a virtual anode in the downstream region of the grid system, and indicate that 2-D or 3-D evaluations are necessary to elucidate neutralization phenomena.
Association of Fat Mass and Obesity-associated Gene Variant with Lifestyle Factors and Body Fat in Indian Children

Context: Common intronic variants of the fat mass and obesity-associated (FTO) gene have been associated with obesity-related traits in humans. Aims: (1) The aim of this study is to study the distribution of FTO gene variants across different body mass index (BMI) categories and (2) to explore the association between FTO gene variants and lifestyle factors in obese and normal weight Indian children. Subjects and Methods: Fifty-six children (26 boys, mean age 10.3 ± 2.2 years) were studied. Height, weight, and waist and hip circumference were measured. Physical activity (questionnaire) and food intake (food frequency questionnaire) were assessed. Body fat percentage (%BF) was measured by dual-energy X-ray absorptiometry. FTO allelic variants at rs9939609 site were detected by SYBR Green Amplification Refractory Mutation System real-time polymerase chain reaction using allele-specific primers. Generalized linear model was used to investigate the simultaneous influence of genetic and lifestyle factors on %BF. Results: Mean height, weight, and BMI of normal and obese children were 130.6 ± 7.1 versus 143.2 ± 15.6, 24.0 ± 5.2 versus 53.1 ± 15.8, and 13.9 ± 2.1 versus 25.3 ± 3.2, respectively. The frequency of AA allele was 57% among obese children and 35% in normal weight children. Children with the AA allele who were obese had least physical activity, whereas children with AT allele and obesity had the highest intake of calories when compared to children who had AT allele and were normal. %BF was positively associated with AA alleles and junk food intake and negatively with healthy food intake and moderate physical activity. Conclusions: Healthy lifestyle with high physical activity and diet low in calories and fat may help in modifying the risk imposed by FTO variants in children.
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine–Sottas neuropathy

We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine–Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320‐1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP. Muscle Nerve, 2011
Impaired generic health status but perception of good quality of life in survivors of burn injury.

BACKGROUND Although it is recognized that burn survivors face a variety of challenges related to physical, psychologic and social late-effects of their injury, the impact of thermal injury on the lives of patients is not fully understood. To learn more about burn patient needs and to obtain information relevant to the design of clinical programs for treatment and aftercare, self-reports on how burn patients perceive their health and quality of life may be of significant value. METHODS The generic health status (evaluated by SF-36) and overall quality of life (evaluated by the Quality of Life Scale [QOLS]) of 95 adult burn patients (total body surface area burned = 18.5 +/- 14.2% [mean +/- SD]; 82.1% men) were assessed 47.0 +/- 23.8 months postburn and compared with population norms. RESULTS The burn patient generic health status was significantly poorer than expected from general population scores, with reduced scores in the Physical Function (p < 0.001), Role Physical (p < 0.01), General Health (p < 0.001), Social Function (p < 0.001), and Role Emotional (p < 0.001) domains of the SF-36. Despite their reduced health status, overall quality of life was perceived as good, with QOLS scores similar to those of the general population. Patients living alone, unemployed, having nonburn physical illness, psychologic disorders, chronic pain, or having sustained full thickness injuries were found to be at particular risk. CONCLUSIONS Forty-seven months postinjury, burn patients still experienced a significant reduction of generic health, reporting limitations related to both physical and psychosocial SF-36 domains. On the other hand, the patients as a group reported overall quality of life similar to that of the norm population, suggesting that they were able to feel satisfaction with their new situation of life. Identification of several risk factors for reduced generic health status and overall quality of life support the need for specialized multidisciplinary aftercare for burn patients.
Functional characteristics of buffy‐coat PLTs photochemically treated with amotosalen‐HCl for pathogen inactivation

BACKGROUND: One blood system for PLTs (INTERCEPT, Baxter Transfusion Therapies) is based on photochemical treatment (PCT) with small molecules that target cross‐link nucleic acids (Helinx technology, Cerus Corp.) with amotosalen‐HCl (S‐59) and UVA light (320‐400 nm) to inactivate pathogens and WBCs.
Not Enough Time?

This study summarizes evidence on various unique aspects of work time in the American labor market. Compared to workers in other rich countries, Americans: Work longer hours per week; take fewer paid vacations; are more likely to work on weekends or at nights; enjoy fewer daily hours of leisure; are more likely to feel pressured for time. Except for night/weekend work, these phenomena are concentrated among higher earners. Their workaholism spills over onto other workers and non-worker family members. The study indicates policy remedies for what appears to be an inferior labor-market equilibrium of excessive market work in the U.S.
Institutional Change, Marketization and Entrepreneurial Strategies: Evidence from China's Economic Transition

Institutions influence the behavior of individuals and firms, but we lack an understanding of what types of institutional environment favor which types of venture strategies. Exploiting regional disparity in institutional development during China’s economic transition, this paper examines the impact of institutional change on the effectiveness of venture strategies. Using data from a novel survey of 254 firms founded by alumni of Tsinghua University in China, we find that early in the development of market-oriented institutions, government ties promote venture growth. In a more marketized environment, innovative firms tend to outperform. During the intermediary stage of marketization, locating in science parks contributes to venture growth. We conceptualize science parks as a type of “cocoon” institution that protects ventures by facilitating both government tie formation and innovation. Our findings imply a need to further consider the institutional environment and specifically the extent that policies, such as science parks encourage the process of economic transition and the impact on shaping entrepreneurial strategies to encourage innovation.
CHICKEN MANURE COMPOSTS AS NITROGEN SOURCES AND THEIR EFFECT ON THE GROWTH AND QUALITY OF KOMATSUNA ( Brassica rapa L.)

Environmental issues on the excessive use of chemical fertilizer and energy shortage in recent years have led to the renewed interest in using organic materials. The return of animal manure into crop fields is considered to be one of the most effective methods in reducing the use of industrially produced chemical fertilizer as well as utilizing the mineral nutrients in crop production waste. The use of animal manure as fertilizer, due to the availability of the nutrients contained in organic materials, has been of concern to agronomists and promoted in recent years in an attempt to increase the amount of soil organic matter and eventually to improve land productivity. The study was conducted in two consecutive experiments to observe the effect of five chicken-manure composts with different nitrogen content and to investigate their residual effect on crop yield and its quality. Chicken-manure composts (Ch-1 to Ch-5) were applied to 2 kg soil of Andisol in pot experiments and Komatsuna (Brassica rapa L.) vegetable was used as a sink of mineralized-N from chicken-manure composts. Unmanured pot was used as control, whereas pot fertilized with urea was used as standard of comparison for chemical fertilizer. Potassium chloride (KCl) and triple super phosphate (TSP) were added in the urea treatment to assure good initial growth. In the second experiment, KCl and TSP were added again at the same rate to the urea pot (U-1). However, compost was not applied in the second batch of chicken-manure compost treatments. The addition of chicken-manure composts resulted in significant differences in yield compared with control, but Ch-3 and Ch-5 did not have significant differences with urea. The residual effect of the chicken manures still resulted in increased Komatsuna yield for Ch-3 and Ch-5, and it enhanced yield significantly compared to residual urea (U1); whereas the other treatments exhibited lower yield than those in the first batch of experiment. The increase in Komatsuna yield of Ch-3 and Ch-5 treatment in the second batch of the experiment might be caused by the higher N mineralization rate wherein residual inorganic N remained in the soil after the first batch of the experiment. Nitrate accumulation in plant was induced by increased N mineralization in soils. The application of Ch-3 and Ch-5 and urea increased greatly nitrate accumulation in Komatsuna plant, while Ch-1, which had slower N mineralization, induced smaller nitrate accumulation. The content of glucose and reducing sugar tended to be lower with the increase of the nitrate content in Komatsuna.
The Late Spring Frost Hardiness of Some Apple Varieties at Various Stages of Flower Buds

In this study, survival rates of pistils of seven apple (Malus x domestica Borkh.) varieties at various stages from tight cluster to full bloom on trees were determined after frost that occurred on the morning at 3:00-8:00 of April 17, 2004 when the temperature dropped to -4 to -6 o C in the orchard. The survival rates of pistils of varieties ranged between 36.7 and 96.5% at tight cluster, 6.2 and 86.0 % at first pink and, 0.2 and 52.0 % at full pink stages after frost injury. 'Starkspur Golden Delicious' (18.0 %), 'Granny Smith' (33.0 %) and 'Canada Reinette' (36.7 %) were the least damaged apple varieties at various flower buds stages from tight cluster to first bloom on trees after frost.
Ectodermal dysplasias: not only ‘skin’ deep

The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings and propose a new classification of EDs integrating both molecular‐genetic data and corresponding clinical findings of related diseases.
Effects of extracts of Humulus lupulus (hops) and Yucca schidigera applied alone or in combination with monensin on rumen fermentation and microbial populations in vitro.

BACKGROUND β-Acids in hops (Humulus lupulus) and saponins in yucca (Yucca schidigera) have been found to possess antimicrobial properties similar to that of monensin and could be an alternative to in-feed antibiotics. The effects of monensin (MON) and ethanol extracts of hops (HE) and Y. schidigera (YE) alone and in combination with MON were assessed on ruminal microbial composition and fermentation in vitro of a barley-based diet. RESULTS All treatments decreased (P < 0.05) CH4 production (per unit of dry matter), microbial protein (mg), and NH3 -N accumulation. All treatments reduced (P < 0.01) the acetate:propionate (A:P) ratio and molar proportions of butyrate, but increased (P < 0.01) those of propionate, whereas those of acetate decreased (P < 0.001) with addition of MON (10 µg mL(-1)) and combined with HE or YE. Methane produced per unit of true digested dry matter decreased (P < 0.001) with all treatments except YE. Monensin reduced (P < 0.001) proportions of 16S rRNA copies of Ruminococcus flavefaciens, but increased (P < 0.01) those of Selenomonas ruminantium. Hops extract alone or combined with MON reduced (P < 0.01) proportions of R. flavefaciens but combined with MON tended (P < 0.1) to increase those of S. ruminantium. Yucca extract combined with MON increased (P < 0.01) the proportions of R. flavefaciens and S. ruminantium. All treatments except MON (2.5 µg mL(-1)) reduced (P < 0.01) the relative abundance of methanogens. CONCLUSION Hops extract and YE altered rumen microbes and fermentation in a manner similar to MON with many responses being additive when applied in combination.
A survival analysis of manufacturing firms in export markets

Two main findings in the trade literature are that exporters are better than non-exporters, and the existence of a high persistence in the export status. The evidence so far provides more support to the argument of the self-selection of the more efficient firms into exporting in presence of entry sunk costs, than to the existence of benefits attributed to exporting (learning-by-exporting). This paper proposes an alternative way of empirically addressing the persistence in export behaviour. We study what keeps a firm exporting once it has started to export. For this purpose, we estimate three discrete time proportional hazard models that account for unobserved individual heterogeneity. The dataset is a sample of Spanish manufacturing drawn from the Encuesta sobre Estrategias Empresariales for 1990-2001. We find that persistence is high and that firms exporting to “closer” markets survive longer than those exporting to uncertain markets. Other firm, product and market characteristics are important determinants of survival in export activities.
Cutting Forces and Chip Morphology during Wood Plastic Composites Orthogonal Cutting

The effect of chip thickness, rake angle, and edge radius on cutting forces and chip morphology in wood plastic composites (WPCs) orthogonal cutting was investigated. Three types of WPCs, Wood flour/polyethylene composite (WFPEC), wood flour/polypropylene composite (WFPPC), and wood flour/polyvinyl chloride composite (WFPVCC), that were tested exhibited different behavior with respect to the machinability aspects. The cutting forces of WFPVCC were the highest, followed by WFPPC and WFPEC. The most significant factor on the parallel cutting force of these three types of WPCs was the chip thickness, which explained more than 90%, contribution of total variation, while rake angle, edge radius, and the interactions between these factors had small contributions. The most significant factor on the normal cutting force of WPCs was also the chip thickness, which accounted for more than 60% of the total variation. The chips produced included long continuous chips, short continuous chips, flake chips, and granule chips when cutting these three types of WPCs.