By application of modern recombinant DNA technology, especially the polymerase chain reaction (PCR)/dot-blot hybridization techniques, we have investigated the molecular basis of β-thalassemia from four different regions of Iran: central, south-east, south and north. In this study, the DNA samples were isolated from patients and for the identification of the mutations, the 6 oligonucleotide...

PURPOSE Identification of molecular characteristics of spontaneously regressing stage IVS and progressing stage IV neuroblastoma to improve discrimination of patients with metastatic disease following favorable and unfavorable clinical courses. EXPERIMENTAL DESIGN Serial analysis of gene expression profiles were generated from five stage IVS and three stage IV neuroblastoma. Differential expr...

BACKGROUND Hypertrophic cardiomyopathy (HCM), the most common genetic heart disease, is characterized by heterogeneous phenotypic expression. Body mass index has been associated with LV mass and heart failure symptoms in HCM. The aim of our study was to investigate whether regional (trunk, appendicular, epicardial) fat distribution and extent could be related to hypertrophy severity and pattern...

Subspace-based methods for state-space system identiication have lately been suggested as an alternative to more traditional techniques for multivariable system identiication. In this paper a novel instrumental variable (IV) approach to subspace-based system identiication is presented. Consistency and choices of IVs are discussed. One result of the paper is that the so-called PO-MOESP algorithm...

The mutation spectrum of 175 β-thalassemia (β-thal) carriers, identified in pilot carrier screening on 22,713 individuals from Balearic Islands (Spain), is reported. The β(0) CD39 (C>T) mutation is the most frequent (61.1%), followed by β(+) IVS-I-110 (G>A) (12.0%), β(+) IVS-I-6 (T>C) and β(0) IVS-1-1 (G>A) (3.4% both) and eight other rare mutations (2.9-0.6%); with a distinct prevalence and di...

AIMS Pulmonary atresia with intact ventricular septum (PA-IVS) is a complex congenital heart malformation with multitude therapeutic approaches. Recently, balloon valvotomy has been used as an alternative to primary surgery. This study aimed to identify echocardiographic markers of balloon dilation success in PA-IVS. METHODS AND RESULTS The echocardiograms of 26 patients diagnosed with PA-IVS...

β-Thalassemias and abnormal hemoglobin variants are among the most common hereditary abnormalities in humans. Molecular characterization of the causative genetic variants is an essential part of the diagnostic process. In geographic areas with high hemoglobinopathy prevalence, such as the Mediterranean region, a limited number of genetic variants are responsible for the majority of hemoglobinop...

Beta thalassemia is an autosomal recessive disorder characterized by reduced (beta(+)) or absent (beta(0)) beta-globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the beta-thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 beta-globin chromosomes from ...

Three topics related to computation of the combined IVS EOP series are discussed. The first one is the consistency of the VLBI EOP series with the IERS reference frames ITRF and ICRF. Not all IVS analysis centers use ITRF/ICRF as reference system for EOP solutions. Some of them realize global solution for simultaneous determination of CRF, TRF and EOP with no-net-rotation constrains w.r.t. ITRF...

A rapid, simple, cost-effective, non-radioactive method for detection of the most common mutations causing beta-thalassemia in Mediterranean people has been developed by combining multiplexing with the amplification refractory system. This approach, the multiplex amplification refractory mutation system (MARMS), provides an easy assay for direct detection of normal and mutant beta-globin genes ...