Search results for "Ligo"
showing 10 items of 1427 documents
The evaluation of metabolic parameters and insulin sensitivity for a more robust diagnosis of the polycystic ovary syndrome
2007
BACKGROUND: Insulin glargine is a once-daily basal insulin analog with prolonged duration of action and absence of an evident peak. Glargine is associated with reduced frequency of hypoglycemic episodes (mostly nocturnal) as well as effective glycemic control. Maintenance of good metabolic control before conception and throughout pregnancy is essential to lower the risk of fetal malformations. Glargine might be a valuable alternative in the management of pregnancies complicated by diabetes mellitus. However, because its clinical utility has not been established, the use of glargine is not currently recommended during pregnancy. OBJECTIVE: The aim of this study was to retrospectively evaluat…
Endometrial gene expression analysis at the time of embryo implantation in women with unexplained infertility
2009
Successful embryo implantation depends on the quality of the embryo, as well as on the receptivity of the endometrium. The aim of this study was to investigate the endometrial gene expression profile in women with unexplained infertility in comparison with fertile controls at the time of embryo implantation in order to find potential predictive markers of uterine receptivity and to identify the molecular mechanisms of infertility. High-density oligonucleotide gene arrays, comprising 44 000 gene targets, were used to define the endometrial gene expression profile in infertile (n = 4) and fertile (n = 5) women during the mid-secretory phase (day LH + 7). Microarray results were validated usin…
Endometrial gene expression in the window of implantation is altered in obese women especially in association with polycystic ovary syndrome
2010
Objective To determine whether luteal phase endometrial transcriptome is altered in obese women during the window of implantation (WOI), considering the presence of infertility, fat distribution and association with polycystic ovary syndrome (PCOS). Design Prospective study. Setting University-affiliated infertility clinic, between May 2007 and March 2009. Patient(s) One control group of women with normal weight (n = 4), and four study groups of obese women (n = 6 each one) according to the association with infertility, PCOS, and ovarian stimulation. Intervention(s) The endometrium was biopsied 7 days after LH surge or hCG administration in 28 women. Main Outcome Measure(s) Endometrial gene…
Thyroid-associated orbitopathy is linked to gastrointestinal autoimmunity
2014
Summary Common autoimmune disorders tend to co-exist in the same subjects and cluster in families. The objective of this study was to determine the prevalence of autoimmune co-morbidity in patients with autoimmune thyroid disease (AITD) with and without thyroid-associated orbitopathy (TAO). This was a cross-sectional study conducted at an academic tertiary referral centre. Of 1310 patients with AITD [n = 777 or 59% with Graves' disease (GD) and n = 533, 41% with Hashimoto's thyroiditis (HT)] followed at a specialized joint thyroid–eye out-patient clinic, 176 (13·4%) had an adult type of the autoimmune polyglandular syndrome, 129 (9·8%) type 1 diabetes, 111 (8·5%) coeliac disease, 60 (4·6%) …
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
2012
Objective To study genotype–phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. Study design In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of parental origin, and genotype–phenotype correlation. Results No breakpoint was recurrent. Single metaphases with loss of the ring, double rings, or secondarily rearranged rings were found in some cases, but true mosaicism was present in none of these cases. In 3 patients, additional duplications in 18p (of 1.4 Mb, 2 …
Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors.
2007
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. The tumors characteristically harbor KIT or PDGFRA mutations, and mutant tumors respond to imatinib mesylate (Glivectrade mark). Chromosomal imbalances resulting in altered gene dosage are known to have a role in the molecular pathogenesis of these tumors, but the target genes remain to be identified. The present study aimed to identify some of these genes. In total, 35 GIST samples were screened for chromosomal imbalances by array-based comparative genomic hybridization. A cDNA array was used to define the minimal common overlapping areas of DNA copy number change. Eight confirmative, …
TESTICULAR SPERM EXTRACTION AND INTRACYTOPLASMIC SPERM INJECTION
1998
We evaluate the efficacy of testicular sperm extraction and results of intracytoplasmic sperm injection in cases of nonobstructive azoospermia. In addition, we define predictive parameters for successful testicular sperm extraction in these patients.A total of 154 patients with nonobstructive azoospermia underwent multiple testicular biopsies to obtain testicular spermatozoa and for histopathological diagnosis. Results of testicular sperm extraction were related to suspected etiology of azoospermia, patient age, maximal testicular volume, serum follicle-stimulating hormone and histopathology. When testicular sperm extraction was successful, intracytoplasmic sperm injection was performed.Spe…
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases
2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations de…
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization
2007
OBJECTIVE: Exstrophy of the bladder (EB) is part of the bladder-exstrophy-epispadias complex (BEEC). Because familial occurrence of BEEC is rare, exogenous factors are thought to play a major role in the etiology of most BEEC cases. We aimed to investigate a possible genetic basis of BEEC in a consanguineous kindred of Moroccan origin with three members showing the same phenotypic expression of BEEC. PATIENTS AND METHODS: The three affected males (two cousins and their maternal uncle) all presenting with nonsyndromic classic EB, were born in Morocco or The Netherlands. One Moroccan patient had an open bladder surface for 22 years due to late surgical reconstruction, avoided upright posture …
New pattern of EGFR amplification in glioblastoma and the relationship of gene copy number with gene expression profile
2010
Gene amplification is a process that is characterized by an increase in the copy number of a restricted region in a chromosome arm, and is frequently associated with an overexpression of the corresponding amplified gene. Amplified DNA can be organized either as extrachromosomal elements, repeated units at a single locus or scattered throughout the genome. The amplification of the gene for epidermal growth factor receptor (EGFR) is a common finding in glioblastomas and the amplified gene copies appears as double minutes. The aim of this study was to investigate the different patterns of EGFR amplification in 40 cases of glioblastoma using FISH analysis in metaphases and paraffin sections, an…