Genetic Diagnosis of Growth Failure

2010 ◽  
pp. 283-335
Author(s):  
Ron G. Rosenfeld ◽  
Vivian Hwa
Keyword(s):  
Genetic Diagnosis ◽  
Growth Failure

scholarly journals DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age

2020 ◽  
Vol 105 (12) ◽  
pp. e4730-e4741
Author(s):  
Silke Peeters ◽  
Ken Declerck ◽  
Muriel Thomas ◽  
Eveline Boudin ◽  
Dominique Beckers ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Short Stature ◽  
Exome Sequencing ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Snp Array ◽  
Genetic Diagnosis ◽  
Growth Failure ◽  
Sotos Syndrome ◽  
Genome Wide

Abstract Purpose In a significant proportion of children born small for gestational age (SGA) with failure of catch-up growth, the etiology of short stature remains unclear after routine diagnostic workup. We wanted to investigate if extensive analysis of the (epi)genome can unravel the cause of growth failure in a significant portion of these children. Patients and Methods Twenty SGA children treated with GH because of short stature were selected from the BELGROW database of the Belgian Society for Pediatric Endocrinology and Diabetology for exome sequencing, single-nucleotide polymorphism (SNP) array and genome-wide methylation analysis to identify the (epi)genetic cause. First-year response to GH was compared with the response of SGA patients in the KIGS database. Results We identified (likely) pathogenic variants in 4 children (from 3 families) using exome sequencing and found pathogenic copy number variants in 2 probands using SNP array. In a child harboring a NSD1-containing microduplication, we identified a DNA methylation signature that is opposite to the genome-wide DNA methylation signature of Sotos syndrome. Moreover, we observed multilocus imprinting disturbances in 2 children in whom no other genomic alteration could be identified. Five of 6 children with a genetic diagnosis had an “above average” response to GH. Conclusions The study indicates that a more advanced approach with deep genotyping can unravel unexpected (epi)genomic alterations in SGA children with persistent growth failure. Most SGA children with a genetic diagnosis had a good response to GH treatment.

Increased enquiries for preimplantation genetic diagnosis (PGD)

2014 ◽  
Vol 74 (S 01) ◽  
Author(s):  
KJ Heiliger ◽  
D Gutknecht ◽  
C Adelfalk ◽  
A Eder ◽  
M Bals-Pratsch ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis

SISTEM OTOMASI PENYIRAMAN TANAMAN BERBASIS TELEGRAM

SIGMA TEKNIKA ◽  
2019 ◽  
Vol 2 (1) ◽  
pp. 81
Author(s):  
Muhammad Irsyam
Keyword(s):  
Soil Moisture ◽  
Plant Growth ◽  
Water Intake ◽  
Smart Phone ◽  
Growth Failure ◽  
Automation System ◽  
Notification System ◽  
Efficiency And Effectiveness ◽  
Plant Automation

ABSTRAK           Faktor yang menentukan kegagalan pertumbuhan suatu tanaman hampir dipengaruhi oleh teknik atau cara penyiraman tanaman yang salah. Hal ini disebabkan oleh teknik penyiraman yang dilakukan secara manual sehingga tidak semua tanaman mendapatkan asupan air yang merata untuk menghidari tanaman menjadi layu. Faktor lain yang menyebabkan kegagalan pertumbuhan tanaman adalah kelembaban tanah.          Oleh karena itu, untuk mengurangi permasalahan tersebut dirancanglah “Sistem Otomasi Penyiraman Tanaman Berbasis Telegram”. Adapun sistem ini meliputi penyiraman tanaman secara otomatis berdasarkan kadar kelembaban tanah dengan sistem pemberitahuan atau notifikasi yang akan dikirimkan kepada petani dengan menggunakan aplikasi smart phone Telegram.          Sistem ini telah mampu mengontrol penyiraman sesuai dengan kondisi yang diinginkan. Dengan adanya sistem otomasi penyiraman tanaman berbasis telegram maka dapat meningkatkan efesiensi dan efektivitas petani sehingga kualitas tanaman dapat terjaga dengan baik.Kata kunci -- Penyiraman Tanaman, Penyiraman Secara Otomatis, Telegram.ABSTRACT                Factors that determine the failure of a plant's growth of almost are influenced by incorrect cropping techniques or methods. This is caused by the technique of watering is done manually so that not all plants get a uniform water intake to avoid crops withered. Another factor that causes plant growth failure is soil moisture.          Therefore, to reduce the problem was designed "Telegram Based Water Planting Automation System". The system includes automatic watering of plants based on moisture level of the soil with a notification or notification system that will be sent to farmers using Telegram smart phone applications.          This system has been able to control the watering according to the desired conditions. With the telegraph-based plant watering plant automation system can improve the efficiency and effectiveness of farmers so that the quality of the plant can be maintained properly. Keywords -- Watering Plants, Watering Automatically, Telegram.  

The experience of holding the cycles of assisted reproductive technology with defrost, a biopsy, genetic study and refreezing of embryos in patients with multiple unsuccessful implantations

2016 ◽  
pp. 166-170
Author(s):  
Y.V. Masliy ◽  
◽  
I.O. Sudoma ◽  
P.S. Mazur ◽  
D.A. Mykytenko ◽  
...  
Keyword(s):  
Chromosomal Rearrangements ◽  
Genetic Diagnosis ◽  
Morphological Characteristics ◽  
Implantation Rate ◽  
Ovarian Response ◽  
Reproductive Technologies ◽  
Comparative Genome Hybridization ◽  
Comparative Genome ◽  
Vitro Fertilization

The objective: to study the possibility of using frozen blastocysts for biopsy and genetic testing and performance measurement transfer euploeded 5–7-day-old embryos after thawing, biopsies, refreezing and thawing in patients with unsuccessful implantation. Patients and methods. The object of the study was the group of patients with repeated failure of implantation (4) in programs of auxiliary reproductive technologies (ART), subject to transfer to the uterus in total (i.e. in all the programs) for at least 6 good quality embryos based on morphological characteristics). All women had sufficient ovarian reserve. The patient was treated for infertility within the ART programs of the clinic of reproductive medicine "Nadiya" in the period from 2006 to 2016. The sample included couples who were not carriers of chromosomal rearrangements, without anomalies of the uterus (congenital and acquired: a doubling of the uterus, one-horned uterus, intrauterine membrane, synechia, submucous myoma of the uterus). All women had a positive ovarian response to controlled stimulation with gonadotropins (at least 7 oocytes) and a sufficient number of cryopreserved embryos. The first group (G1) included 64 women who trophectodermal a biopsy was performed on fresh blastocysts (in a loop controlled ovarian hyperstimulation). The second group (G2) were included 31 women who underwent thawing previously cryopreserved blastocysts trophectodermal re-biopsy and vitrification of blastocysts. Results. It was found that the performance of transfers euploid embryos that were vitrified, bioptrone and revitriphted, a little lower than those that were bioptrone fresh and vitrified only once. At the same time computationa genetic diagnosis previously vitrified blastocysts using comparative genome hybridization in patients with recurrent failed implantation allows to obtain a reasonable pregnancy rate (58%), implantation rate (33.3 %) and the birth of living children (45.1 %). Conclusion. Reprising biopropane embryos does not cause significant destructive impact and allows you to achieve pregnancy and birth of the alive child. Key words: in vitro fertilization, reusable unsuccessful implantation, a method of comparative genome hybridization, refreezing.

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