Preimplantation diagnosis of genetic and chromosomal disorders

1994 ◽  
Vol 11 (5) ◽  
pp. 236-243 ◽  
Author(s):  
Y. Verlinsky ◽  
A. Handyside ◽  
J. Grifo ◽  
S. Munné ◽  
J. Cohen ◽  
...  
Keyword(s):  
Preimplantation Diagnosis ◽  
Chromosomal Disorders ◽  
Genetic And Chromosomal Disorders

scholarly journals Secondary tics and tourettism

2005 ◽  
Vol 27 (1) ◽  
pp. 11-17 ◽  
Author(s):  
Nicte I Mejia ◽  
Joseph Jankovic
Keyword(s):  
Tourette Syndrome ◽  
Movement Disorders ◽  
Neurological Disorders ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Chromosomal Disorders ◽  
Peripheral Injury ◽  
Static Encephalopathy ◽  
Post Infectious ◽  
Genetic And Chromosomal Disorders

Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 ± 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.

scholarly journals Preimplantation genetic testing for inherited immunodeficiency

2018 ◽  
Vol 6 (6) ◽  
Author(s):  
Svetlana Rechitsky ◽  
Tatiana Pakhalchuk ◽  
Maria Prokhorovich ◽  
Geraldine San Ramos ◽  
Oleg Verlinsky ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Hla Typing ◽  
Healthy Children ◽  
Preimplantation Genetic Testing ◽  
Chromosomal Disorders ◽  
Inherited Immunodeficiency ◽  
Congenital Immunodeficiency ◽  
Practical Tool ◽  
Genetic And Chromosomal Disorders

Preimplantation genetic testing (PGT) has become a practical tool for at risk couples to avoid affected pregnancies and have a healthy progeny free from genetic and chromosomal disorders. PGT is also an option for stem cell transplantation treatment through combining PGT with preimplantation HLA typing for couples with children affected by congenital disorders, for whom no other alternative therapies are available, such as for congenital immunodeficiency. We present here our experience of 135 PGT cycles performed for 74 couples at risk for producing offspring with 18 different congenital immunodeficiencies, resulting in birth of 54 healthy children free from inherited immunodeficiency, which is one of the world’s largest PGT series for immunodeficiency.

scholarly journals S1 Polar body based PGD for genetic and chromosomal disorders

2012 ◽  
Vol 24 ◽  
pp. S31
Author(s):  
A. Kuliev ◽  
Z. Zlatopolsky ◽  
I. Kirillova ◽  
Y. Ilkevitch ◽  
J. Cieslak Janzen
Keyword(s):  
Polar Body ◽  
Chromosomal Disorders ◽  
Genetic And Chromosomal Disorders

scholarly journals The world's first and largest repository of human ESC lines with genetic and chromosomal disorders

2009 ◽  
Vol 18 ◽  
pp. S-6
Author(s):  
Y Verlinsky ◽  
N Strelchenko ◽  
V Kukharenko ◽  
S Rechitsky ◽  
O Verlinsky ◽  
...  
Keyword(s):  
Chromosomal Disorders ◽  
Genetic And Chromosomal Disorders

Estimation of chromosome disorders in workers at coal thermal power plant

2019 ◽  
pp. 149-154 ◽  
Author(s):  
V. I. Minina ◽  
Yu. A. Nelyubova ◽  
Ya. A. Savchenko ◽  
A. A. Timofeeva ◽  
Ye. A. Astafieva ◽  
...  
Keyword(s):  
Power Plant ◽  
Chromosomal Aberrations ◽  
Thermal Power Plant ◽  
Reference Group ◽  
Thermal Power ◽  
West Siberia ◽  
Kuznetsk Coal ◽  
Chromosomal Disorders ◽  
Occupational Environment ◽  
Industrial Enterprises

Introduction. Coal heat power stations are characterized by severe hazardous eff ect of occupational environment on workers. Objective. To analyze chromosomal disorders in workers of thermal power plant working on coal from Kuznetsk coal fi eld (West Siberia). Materials and methods. Th e authors studied level and specter of chromosomal aberrations in blood lymphocytes of 185 workers of Kemerovo thermal power plant and 218 inhabitants of the same location, not working on industrial enterprises (Kemerovo, Russia). For every individual, average number of 200 metaphase plates of high quality was analyzed. Results. Findings are that the workers of thermal power plant have levels of chromosomal aberrations signifi cantly higher than those of reference group (3,01±0,13% vs. 1,45±0,08%; р<0,00001). With that, increased frequency is seen both for chromatid aberrations and for chromosomal ones — that indicates complex exposure to chemical and radiation factors. Conclusions. Th e results obtained necessitate elaboration of measures to decrease genotoxic hazards in the occupational environment.

Sign in / Sign up

Export Citation Format

Share Document