436 research outputs found
Венчурні інвестиції: сутність, форми, контрагенти
У статті досліджено генезис категорії "венчурні інвестиції", еволюцію форм організації венчурних інвестицій, конкретизовано специфіку інвесторів і реципієнтів венчурного капіталу
Is severity of motor coordination difficulties related to co-morbidity in children at risk for developmental coordination disorder?
Aim of the study was to investigate whether 7-9 year old children with severe motor difficulties are more at risk of additional difficulties in activities in daily living, academic skills, attention and social skills than children with moderate motor difficulties. Children (N=6959) from a population based cohort, the Avon Longitudinal Study of Parents and Children (ALSPAC), were divided into three groups based on their scores on the ALSPAC Coordination Test at age 7: control children (scores above 15th centile; N=5719 [82.1%]); children with moderate (between 5th and 15th centile; N=951 [13.7%]); and children with severe motor difficulties (below 5th centile N=289 [4.2%]). Children with neurological disorders or an IQ<70 were excluded. Logistic regression was used to compare children with moderate and severe motor coordination difficulties with each other and with control children regarding their risk of co-morbidity defined as significant (<10th centile) difficulties with activities of daily living (ADL); academic skills (reading, spelling and handwriting); attention; social skills (social cognition and nonverbal skills). Children with severe motor difficulties demonstrated a higher risk of difficulties in ADL, handwriting, attention, reading, and social cognition than children with moderate motor difficulties, who in turn had a higher risk of difficulties than control children in five out of seven domains. Screening and intervention of co-morbid problems is recommended for children with both moderate and severe motor difficulties
The AIMS home-video method: parental experiences and appraisal for use in neonatal follow-up clinics
BACKGROUND: In The Netherlands, prematurely born infants and their parents are offered regular developmental check-ups in a hospital setting. In line with providing healthcare at distance, the use of video footage showing the infant's behavior and movements, taken by parents at home and assessed by professionals online, might be a fruitful future practice. The focus of this study was to gain insight into parental experiences with the Alberta Infant Motor Scale home-video method and their appraisal of its applicability for use in an outpatient neonatal follow-up clinic. METHOD: A qualitative descriptive study among parents of healthy extremely or very premature infants (GA 26.2-31.5 weeks) participating in a longitudinal study of motor development between 3-18 months corrected age. Ten semi-structured interviews were conducted and transcribed verbatim. Data was analyzed independently. Inductive content analysis was performed following the process of the AIMS home-video method. RESULTS: Parents appraised the AIMS home-video method as manageable and fun to do. Instructions, instruction film, and checklists were clear. Transferring the video footage from their phone to their computer and uploading it to the web portal was sometimes time-consuming. Parents gained a better awareness of their infant's motor development and found the provided feedback a confirmation of what they already thought about their infant's development and was reassuring that their child was doing well. First-time parents seemed more uncertain and had a greater need for information about (motor) development, but on the other hand, also had confidence in their child. All parents thought that home-videos can be an addition to follow-up visits, but cannot replace (all) visits. It may be an opportunity to reduce the frequency of hospital visits, while still having their infant monitored. CONCLUSION: Parents appraised the AIMS home-video method positively and are of the opinion that home-videos can be of added value in monitoring infants at risk in neonatal follow-up additional to hospital visits. In future research a user-friendly application and/or platform to exchange video footage safely between parents and professionals should be developed with all possible stakeholders involved and implementation should be explored
Partially distributed coordination with Reo and constraint automata
Algorithms and the Foundations of Software technolog
Recommendations on Surveillance for Differentiated Thyroid Carcinoma in Children with PTEN Hamartoma Tumor Syndrome
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) represents a group of syndromes caused by a mutation in the PTEN gene. Children with a germline PTEN mutation have an increased risk of developing differentiated thyroid carcinoma (DTC). Several guidelines have focused on thyroid surveillance in these children, but studies substantiating these recommendations are lacking. OBJECTIVE: The present study intends to provide the available evidence for a thyroid carcinoma surveillance program in children with PHTS. METHODS: An extensive literature search was performed to identify all studies on DTC in pediatric PHTS patients. Two pediatric cases are presented to illustrate the pros and cons of thyroid carcinoma surveillance. Recommendations for other patient groups at risk for DTC were evaluated. Consensus within the study team on recommendations for children with PHTS was reached by balancing the incidence and behavior of DTC with the pros and cons of thyroid surveillance, and the different surveillance methods. RESULTS: In 5 cohort studies the incidence of DTC in childhood ranged from 4 to 12%. In total 57 cases of DTC and/or benign nodular disease in pediatric PHTS patients were identified, of which 27 had proven DTC, with a median age of 12 years (range 4-17). Follicular thyroid carcinoma (FTC) was diagnosed in 52% of the pediatric DTC patients. No evidence was found for a different clinical behavior of DTC in PHTS patients compared to sporadic DTC. CONCLUSIONS: Children with PHTS are at increased risk for developing DTC, with 4 years being the youngest age reported at presentation and FTC being overrepresented. DTC in pediatric PHTS patients does not seem to be more aggressive than sporadic DTC. RECOMMENDATIONS: Surveillance for DTC in pediatric PHTS patients seems justified, as early diagnosis may decrease morbidity. Consensus within the study team was reached to recommend surveillance from the age of 10 years onwards, since at that age the incidence of DTC seems to reach 5%. Surveillance for DTC should consist of yearly neck palpation and triennial thyroid ultrasound. Surveillance in children with PHTS should be performed in a center of excellence for pediatric thyroid disease or PHTS
Service orchestration with priority constraints
Business process management is an operational management approach that focuses on improving business processes. Business processes, i.e., collections of important activities in an organization, are represented in the form of a workflow, an orchestrated and repeatable pattern of activities amenable to automated analysis and control. Priority is an important concept in modeling workflows. We need priority to model cancelable and compensable tasks within transactional business processes. We use the Reo coordination language to model and formally analyze workflows. In this paper, we propose a constraint-based approach to formalize priority in Reo. We introduce special channels to propagate and block priority flows, define their semantics as constraints, and model priority propagation as a constraint satisfaction problem
Modeling gross motor developmental curves of extremely and very preterm infants using the AIMS home-video method
BACKGROUND: Motor development is one of the first signals to identify whether an infant is developing well. For very preterm (VPT) infants without severe perinatal complications, little is known about their motor developmental curves. AIMS: Explore gross motor developmental curves from 3 until 18 months corrected age (CA) of VPT infants, and related factors. Explore whether separate profiles can be distinguished and compare these to profiles of Dutch term-born infants. STUDY DESIGN: Prospective cohort study with parents repeatedly recording their infant, using the Alberta Infant Motor Scale (AIMS) home-video method, from 3 to 18 months CA. SUBJECTS: Forty-two Dutch infants born ≤32.0 weeks gestational age and/or with a birthweight (BW) of <1500 g without severe perinatal complications. OUTCOME MEASURES: Gross motor development measured with the AIMS. RESULTS: In total 208 assessments were analyzed, with 27 infants ≥five assessments, 12 with <four, and three with one assessment. Sigmoid-shaped gross motor curves show unidirectional growth and variability. No infant or parental factors significantly influenced motor development, although a trend was seen for the model where lower BW, five-minute Apgar score <7, and Dutch native-speaking parents were associated with slower motor development. Three motor developmental profiles of VPT infants were identified, early developers, gradual developers, and late bloomers, which until 12 months CA are comparable in shape and speed to profiles of Dutch term-born infants. CONCLUSIONS: VPT infants show great intra- and interindividual variability in gross motor development, with three motor profiles being distinguished. From 12 months CA onwards, VPT infants appear to develop at a slower pace. With some caution, classifying infants into motor developmental profiles may assist clinical decision-making
Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature
In children presenting with a predominantly cystic renal tumor, the most likely diagnoses
include cystic partially differentiated nephroblastoma (CPDN) and cystic nephroma (CN). Both
entities are rare and limited information on the clinical and molecular characteristics, treatment, and
outcome is available since large cohort studies are lacking. We performed an extensive literature
review, in which we identified 113 CPDN and 167 CN. The median age at presentation for CPDN
and CN was 12 months (range: 3 weeks–4 years) and 16 months (prenatal diagnosis–16 years),
respectively. No patients presented with metastatic disease. Bilateral disease occurred in both entities.
Surgery was the main treatment for both. Two/113 CPDN patients and 26/167 CN patients had
previous, concomitant, or subsequent other tumors. Unlike CPDN, CN was strongly associated with
somatic (n = 27/29) and germline (n = 12/12) DICER1-mutations. Four CPDN patients and one CN
patient relapsed. Death was reported in six/103 patients with CPDN and six/118 CN patients, none
directly due to disease. In conclusion, children with CPDN and CN are young, do not present with
metastases, and have an excellent outcome. Awareness of concomitant or subsequent tumors and
genetic testing is important. International registration of cystic renal tumor cohorts is required to
enable a better understanding of clinical and genetic characteristics
The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome
Item does not contain fulltextCONTEXT: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous, and there are at least eight genes involved in its pathogenesis, whereas CHARGE syndrome is caused by autosomal dominant mutations in only one gene, the CHD7 gene. Two independent studies showed that CHD7 mutations can also be found in a minority of KS patients. OBJECTIVE: We aimed to investigate whether CHD7 mutations can give rise to isolated KS or whether additional features of CHARGE syndrome always occur. DESIGN: We performed CHD7 analysis in a cohort of 36 clinically well-characterized Dutch patients with KS but without mutations in KAL1 and with known status for the KS genes with incomplete penetrance, FGFR1, PROK2, PROKR2, and FGF8. RESULTS: We identified three heterozygous CHD7 mutations. The CHD7-positive patients were carefully reexamined and were all found to have additional features of CHARGE syndrome. CONCLUSION: The yield of CHD7 analysis in patients with isolated KS seems very low but increases when additional CHARGE features are present. Therefore, we recommend performing CHD7 analysis in KS patients who have at least two additional CHARGE features or semicircular canal anomalies. Identifying a CHD7 mutation has important clinical implications for the surveillance and genetic counseling of patients
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