The aim of the study was to evaluate the debated question of the pathogenesis of Syndrome X. Twelve consecutive patients with Syndrome X underwent high-dose dipyridamole echocardiographic test. Angina and ischaemic ST depression occurred in all patients, without impairment of regional wall-motion. Microvascular dysfunction probably is the cause of Syndrome X.
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Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.
J Hum Genet
March 2023
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
While whole genome sequencing and long-read sequencing have become widely available, more and more focuses are on noncoding expanded repeats. Indeed, more than half of noncoding repeat expansions related to diseases have been identified in the five years. An exciting aspect of the progress in this field is an identification of a phenomenon called repeat motif-phenotype correlation.
View Article and Find Full Text PDFReduced RNA expression of the FMR1 gene in women with low (CGGn<26) repeats.
PLoS One
May 2019
The Center for Human Reproduction, New York, NY, United States of America.
Low FMR1 variants (CGGn<26) have been associated with premature ovarian aging, female infertility and poor IVF treatment success. Until now, there is little published information concerning possible molecular mechanisms for this effect. We wished to examine whether relative expression of RNA and the FMR1 gene's fragile X mental retardation protein (FMRP) RNA isoforms differ in women with various FMR1 sub-genotypes (normal, low CGGn<26 and/or high CGGn≥34).
View Article and Find Full Text PDFSex determination of human embryos using the polymerase chain reaction and confirmation by fluorescence in situ hybridization.
Fertil Steril
January 1994
Department of Obstetrics and Gynecology, New York Hospital-Cornell University Medical Center, New York.
Objective: To use fluorescence in situ hybridization to corroborate the polymerase chain reaction (PCR) preimplantation diagnosis of human embryos in three couples carrying a chromosome X-linked disease.
Setting: Clinical and research IVF laboratories.
Patients: Individuals undergoing preimplantation diagnosis.
[X-syndrome: a pending problem].
Clin Ter
January 1994
Servizio di Cardiologia-U.C.I.C., Ospedale Celesia di Genova-Rivarolo.
The aim of the study was to evaluate the debated question of the pathogenesis of Syndrome X. Twelve consecutive patients with Syndrome X underwent high-dose dipyridamole echocardiographic test. Angina and ischaemic ST depression occurred in all patients, without impairment of regional wall-motion.
View Article and Find Full Text PDFThe fragile X chromosome has been identified in specimens from 17 male and 10 female fetuses in 11 laboratories throughout the world, obtained from at least 79 fetuses at increased risk for the fra(X) syndrome. Of these, 19 were confirmed, 6 were pending, 1 was negative and 1 could not be confirmed. Twenty-five of the 79 cases were studied in our laboratory (Institute for Basic Research [IBR]) and resulted in fra(X) demonstration in specimens from 3 male and 5 female fetuses.
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