scholarly journals PedigreeOnline: a new web server for two-way interactive pedigree drawing

2021 ◽  
Author(s):  
Ye Chen ◽  
Xiaohui Cang
Keyword(s):  
Web Server ◽  
Family Data ◽  
Linkage Data ◽  
Special Importance ◽  
Graphical Interface ◽  
Inherited Disease ◽  
Drawing Tool ◽  
User Friendliness ◽  
Data Format ◽  
The Family

Abstract Pedigree drawing is of special importance for genetic counseling and research on documenting families with inherited disease. Current pedigree-drawing tools fall into two types: those build pedigree diagrams from input family data, and those provide a graphical interface to draw pedigree directly. Here we merge the two types of programs into one, and release a brand new pedigree-drawing web server, PedigreeOnline. Through introducing a novel pedigree-like-layout (PLL) family data format and taking advantage of HTML5 canvas element in development, this program is able to build two-way interactive connections between family data and graphical interface. Users can work on and switch easily between the graphical interface and the family data window. Currently this web server is compatible with Linkage data format and comma-separated value (CSV) data format. These features make PedigreeOnline a pedigree-drawing tool with outstanding user-friendliness and flexibility. PedigreeOnline is freely accessible for everyone at: http://www.ig.zju.edu.cn/PedigreeOnline/

Pedigree online: A New Web Server for Two-Way Interactive Pedigree Drawing

2021 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Web Server ◽  
Family Data ◽  
Linkage Data ◽  
Special Importance ◽  
Graphical Interface ◽  
Inherited Disease ◽  
Drawing Tool ◽  
User Friendliness ◽  
Data Format ◽  
The Family

Pedigree drawing is of special importance for genetic counseling and research on documenting families with inherited disease. Current pedigree-drawing tools fall into two types: those build pedigree diagrams from input family data, and those provide a graphical interface to draw pedigree directly. Here we merge the two types of programs into one, and release a brand new pedigree-drawing web server, PedigreeOnline. Through introducing a novel pedigree-like-layout (PLL) family data format and taking advantage of HTML5 canvas element in development, this program is able to build two-way interactive connections between family data and graphical interface. Users can work on and switch easily between the graphical interface and the family data window. Currently this web server is compatible with Linkage data format and comma-separated value (CSV) data format. These features make PedigreeOnline a pedigree-drawing tool with outstanding user-friendliness and flexibility. PedigreeOnline is freely accessible for everyone at: http://www.ig.zju.edu.cn/PedigreeOnline/

scholarly journals Recurrent headache and migraine within the family

Genetika ◽  
2011 ◽  
Vol 43 (1) ◽  
pp. 101-112
Author(s):  
Marija Knezevic-Pogancev
Keyword(s):  
Ethnic Groups ◽  
Clinical Picture ◽  
Migraine Headache ◽  
Nuclear Family ◽  
Family Data ◽  
Northern Province ◽  
Place Of Birth ◽  
Recurrent Headache ◽  
Migraine Headaches ◽  
The Family

The aim of this research was to determine risk for family appearance of the recurrent headache (non-migraine and migraine). The recurrent headache can be understood as being a heterogeneous state, consisting of some more, still not found, hereditary disposition factors which altogether, interacting with surrounding factors give the recognizable clinical picture. The current heredity concept suggests multifactor heredity. The research was conducted in Vojvodina, the Northern Province of Serbia. The population of Vojvodina is around 2 million people belonging to more than 20 different ethnic groups. During the 20 years period (1988-2008), 30363 children aged 3 to 17 years were tested, independent of the place of birth. The presence of headaches similar to those tested was compared among all the members of the family within three generations. Positive family data of the recurrent headaches was detected among 98,6% children with migraine headaches, 64,7% children with non- migraine headaches, and 32,4% children without recurrent headaches. The relation among the members of the nuclear family (contingency quotient of 0,429) is significantly stronger than the relation to the members of wider family (contingency quotient of 0,338). The probability of a child having the migraine headache, and not the non-migraine one, is 0,664 for a mother, 0,644 for a father, 0,411 for a father`s mother, - 0,175 for a mother`s mother, 0,165 for a mother`s father, and - 0,102 for a father`s father having similar recurrent headaches.

HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease

2016 ◽  
Vol 12 (2) ◽  
pp. 490-498 ◽  
Author(s):  
Shuyan Li ◽  
Jun Lu ◽  
Jiazhong Li ◽  
Ximing Chen ◽  
Xiaojun Yao ◽  
...  
Keyword(s):  
Web Server ◽  
Inherited Disease ◽  
Reliable Tool ◽  
Novel Method ◽  
User Friendly ◽  
Human Inherited Disease

HydPred was presented as the most reliable tool up to now for the identification of protein hydroxylation sites with a user-friendly web server at http://lishuyan.lzu.edu.cn/hydpred/.

Detection of regulation of family size after births of affected children

1980 ◽  
Vol 12 (1) ◽  
pp. 10-10
Author(s):  
Jon Stene
Keyword(s):  
Family Size ◽  
Binomial Distribution ◽  
Family Data ◽  
Affected Child ◽  
Number Of Children ◽  
Family Limitation ◽  
The Family

For family data where some of the children may have a certain inherited disorder, the number of affected children has usually been assumed to be binomially distributed given the total number of children in the family. In this assumption is included the assumption that the distribution of the total number of children does not depend on the probability that a child is affected. For many disorders this assumption is unlikely to hold because the birth of an affected child may lead either to some sort of family limitation or to some sort of overcompensation. In such cases models other than the binomial distribution have to be used.

scholarly journals Autistic Spectrum Disorder in the Context of Pandemic by Covid-19: Caring for Children and Caregivers

2021 ◽  
Author(s):  
José Vilelas
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Scientific Evidence ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Special Importance ◽  
Negative Behaviors ◽  
The Family ◽  
And Behavior

The COVID-19 pandemic has brought important challenges to society and families, with repercussions on child behavior and development with special importance for children with neurodevelopmental disorders that affect and impair the child’s functionality: Autism spectrum disorder. Thus, we set as objective to Identify and analyze the scientific evidence of interventions performed on children with Autism Spectrum Disorder in the context of a Covid-19 pandemic. A search was conducted in the MEDLINE, PubMed, CINHAL databases and gray literature. Children with Autism Spectrum Disorders (EAP) may become more anxious, agitated and unregulated with the change in routines to which they are subjected in this phase of the Covid 19 pandemic. Autism disorders affect communication, social interaction and behavior, usually with a tendency to be repetitive and routine, but in a scenario of pandemic and social isolation, anxiety and agitation may be more pronounced and, in more severe cases, there may be less capacity to function. It is important that the family of the child with ASD propose cooperative activities or resources that they have at home and that can be adapted. The insertion of some tasks contributes to the establishment of the ability to play independently. In it, the child gets involved independently. And so it prevents negative behaviors from occurring due to leisure and the need for attention, also favoring concentration.

scholarly journals Reproducibility of Pansharpening Methods and Quality Indexes versus Data Formats

2021 ◽  
Vol 13 (21) ◽  
pp. 4399
Author(s):  
Alberto Arienzo ◽  
Bruno Aiazzi ◽  
Luciano Alparone ◽  
Andrea Garzelli
Keyword(s):  
Fixed Point ◽  
Floating Point ◽  
Spectral Radiance ◽  
Data Format ◽  
Spectral Angle Mapper ◽  
Data Formats ◽  
The Family ◽  
Hypercomplex Algebra ◽  
Theoretical Analyses ◽  
Component Substitution

In this work, we investigate whether the performance of pansharpening methods depends on their input data format; in the case of spectral radiance, either in its original floating-point format or in an integer-packed fixed-point format. It is theoretically proven and experimentally demonstrated that methods based on multiresolution analysis are unaffected by the data format. Conversely, the format is crucial for methods based on component substitution, unless the intensity component is calculated by means of a multivariate linear regression between the upsampled bands and the lowpass-filtered Pan. Another concern related to data formats is whether quality measurements, carried out by means of normalized indexes depend on the format of the data on which they are calculated. We will focus on some of the most widely used with-reference indexes to provide a novel insight into their behaviors. Both theoretical analyses and computer simulations, carried out on GeoEye-1 and WorldView-2 datasets with the products of nine pansharpening methods, show that their performance does not depend on the data format for purely radiometric indexes, while it significantly depends on the data format, either floating-point or fixed-point, for a purely spectral index, like the spectral angle mapper. The dependence on the data format is weak for indexes that balance the spectral and radiometric similarity, like the family of indexes, Q2n, based on hypercomplex algebra.

scholarly journals Getting the most out of family data with the R package fSRM

2016 ◽  
Author(s):  
Lara Stas ◽  
Felix D. Schönbrodt ◽  
Tom Loeys
Keyword(s):  
Social Relations ◽  
R Package ◽  
Family Data ◽  
Individual Level ◽  
The Social ◽  
The Family ◽  
Research Questions ◽  
The Individual ◽  
User Friendly ◽  
Different Levels

Family research aims to explore family processes, but is often limited to the examination of unidirectional processes. As the behavior of one person has consequences that go beyond that one individual, Family functioning should be investigated in its full complexity. The Social Relations Model (SRM; Kenny & La Voie, 1984) is a conceptual and analytical model which can disentangle family data from a round-robin design at three different levels: the individual level (actor and partner effects), the dyadic level (relationship effects) and the family level (family effect). Its statistical complexity may however be a hurdle for family researchers. The user-friendly R package fSRM performs almost automatically those rather complex SRM analyses and introduces new possibilities for assessing differences between SRM-means and between SRM-variances, both within and between groups of families. Using family data on negative processes, different type of research questions are formulated and corresponding analyses with fSRM are presented.

scholarly journals Cystic fibrosis and the role of the physiotherapist

1981 ◽  
Vol 37 (3) ◽  
pp. 72-74
Author(s):  
Anne Miot ◽  
J. M. Pettifor ◽  
I. Reef
Keyword(s):  
Cystic Fibrosis ◽  
Pulmonary Function ◽  
Close Contact ◽  
Point Of View ◽  
Inherited Disease ◽  
Family Situation ◽  
Respiratory Involvement ◽  
The Family ◽  
Pulmonary Pathology

Cystic fibrosis is an inherited disease, the major problems being pancreatic malabsorption and progressive respiratory involvement, although numerous other organs may also be involved. The pulmonary pathology and the role of the physiotherapist in the treatment of cystic fibrosis is discussed. The physiotherapist plays an important role in the management of the child with cystic fibrosis, not only from the point of view of maintaining maximal pulmonary function but also because she comes into close contact with the family and can help in optimising the acceptance of the child into the family situation.

Deterioration Modeling for Unlaid and Overlaid Pavements

1996 ◽  
Vol 1524 (1) ◽  
pp. 177-184 ◽  
Author(s):  
Moshe Livneh
Keyword(s):  
Data File ◽  
Climatic Conditions ◽  
Pavement Management ◽  
Family Data ◽  
Traffic Load ◽  
Pavement Management System ◽  
Pavement Condition ◽  
The Family ◽  
Optimal Maintenance ◽  
Prediction Curve

Pavement management relies heavily on the ability to model and predict pavement condition accurately. The current deterministic deterioration models for use in the mathematical curve-fitting technique are evaluated, and a new universal deterioration model that can be used to improve some obstacles associated with the current models is introduced. The new procedure is applied to a family data file of various pavement sections possessing the same grouping variables. Then the prediction for each section within the family data file is performed by using its position relative to the family prediction curve. Information regarding the condition of the overlaid pavement in the future is needed for performing life-cycle analysis and developing optimal maintenance and rehabilitation strategies. Thus, deterioration curves for overlaid pavements are also needed. However, in some cases the existing data are not sufficient to construct these deterioration curves as a function of both the original pavement structure and the overlay characteristics. Thus, in these cases the deterioration curves are extrapolated from a new model recently obtained in Illinois. In that model the performance function is tied to major engineering parameters such as structural number, traffic load, age, and climatic conditions. The prediction methodology presented is being examined by Israeli pavement management system developers, and their preliminary results are very encouraging.

scholarly journals Sturge Weber Syndrome: A Case Report

1970 ◽  
Vol 30 (3) ◽  
pp. 164-165
Author(s):  
S Devkota ◽  
S Upadhyay
Keyword(s):  
Venous Drainage ◽  
Congenital Glaucoma ◽  
Inherited Disease ◽  
Port Wine ◽  
Venous Plexus ◽  
The Family ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndrome ◽  
Cortical Venous Drainage

Sturge-Weber syndrome is a neurocutaneous syndrome characterized by port wine stain, congenital glaucoma, and underlying anomalous leptomeningeal venous plexus and the lack of normal cortical venous drainage. It is a congenital but not an inherited disease and it occurs sporadically and is very rare, incidence being approximately 1 on 50000. It occurs with rare exception but occasionally the other members of the family may have hemangiomata of a lesser degree.  DOI: 10.3126/jnps.v30i3.3920J Nep Paedtr Soc 2010;30(3):164-165

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