Search results for "Ic testing"

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Impact of chromosomal abnormalities on preimplantation embryo development.

2007

Objectives To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development. Methods This study includes 6936 embryos from 1245 women undergoing preimplantation genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed on day 3, and embryos were co-cultured until day 5, when embryo transfer was performed. Results In the aneuploidy screening regimen, normal euploid embryos showed significantly higher blastocyst rates (68.2%) compared to chromosomally abnormal (42.8%, p < 0.0001) and mosaic (53.7%, p < 0.0001) em…

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

2004

Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1–65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized as phenotypically severe (n = 36) and milder (n = 9). Urine specimens were also analyzed from patients categorized as severe (n = 56) and milder (n = 12), respectively. Blood KS levels (101–1525 ng/mL)…

Vitrification of preimplantation genetically diagnosed human blastocysts and its contribution to the cumulative ongoing pregnancy rate per cycle by u…

2008

Objective To evaluate the survival rate and clinical results of our vitrification procedure on preimplantation genetic diagnosis (PGD) blastocysts and to calculate its actual contribution to the reproductive outcome per cycle. Design Retrospective clinical study. Setting University Institute IVI, Valencia, Spain. Patient(s) Patients who requested cryotransfer of surplus PGD blastocysts after failed fresh elective transfer. Intervention(s) Retrospectively collected data during 2 years of experience with blastocyst vitrification. Main Outcome Measure(s) Primary outcome measures were the following: blastocyst recovery and survival; cryotransfer cancellation; and the implantation, pregnancy (PR…

Clinical relevance of objectifying colposcopy.

2014

Purpose: To evaluate the clinical value of four objective colposcopic criteria inner border, ridge sign, cuffed crypt openings and rag sign to diagnose cervical intraepithelial neoplasia grade 2 or worse (CIN 2+), using video exoscopy and to compare it to subjective graduating signs. Methods: Retrospective evaluation of video recordings of 444 patients, referred for diagnostic colposcopy, who underwent cervical biopsies, and if indicated loop excisions. Most severe histological diagnosis was recorded. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and likelihood ratios (LR) with 95 % confidence interval, for CIN 2+ were calculated. Results: Singl…

Multi-aperture beamforming for automated large structure inspection using ultrasonic phased arrays

2019

Increasing the inspection quality and speed is essential in manufacturing applications, especially for large structures (e.g. modern aircrafts). Traditional ultrasonic manual scanning can be comprehensive, but lacks repeatability and is time-consuming. Several robotic non-destructive testing systems have been developed in recent years. Although high inspection rates have been achieved by the use of robotic arms, there is the need to furtherly increase the inspection speeds, to cope with the current industrial demands. For systems delivering robotic ultrasonic inspection through phased array probes, the current bottleneck is given by the time required to electrically fire all elements of the…

miRNA detection methods and clinical implications in lung cancer

2014

[EN] Lung cancer is the leading cause of cancer death worldwide. Therefore, advances in the diagnosis and treatment of the disease are urgently needed. miRNAs are a family of small, noncoding RNAs that regulate gene expression at the transcriptional level. miRNAs have been reported to be deregulated and to play a critical role in different types of cancer, including lung cancer. Thus, miRNA profiling in lung cancer patients has become the core of several investigations. To this end, the development of a multitude of platforms for miRNA profiling analysis has been essential. This article focuses on the different technologies available for assessing miRNAs and the most important results obtai…

Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome…

2020

AbstractTo prevent endometrial carcinoma in Lynch syndrome (LS), regular gynecological surveillance visits and prophylactic surgery are recommended. Previous data have shown that prophylactic hysterectomy is an effective means of cancer prevention, while the advantages and disadvantages of surveillance are somewhat unclear. We aimed to evaluate female LS carriers’ attitudes towards regular gynecological surveillance and factors influencing their decision-making on prophylactic surgery that have not been well documented. Pain experienced during endometrial biopsies was also evaluated. Postal questionnaires were sent to LS carriers undergoing regular gynecological surveillance. Questionnaires…

No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers.

2021

Microsatellite instability (MSI) is caused by defective DNA mismatch repair (MMR), and manifests as accumulation of small insertions and deletions (indels) in short tandem repeats of the genome. Another form of repeat instability, elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), has been suggested to occur in 50% to 60% of colorectal cancer (CRC), of which approximately one quarter are accounted for by MSI. Unlike for MSI, the criteria for defining EMAST is not consensual. EMAST CRCs have been suggested to form a distinct subset of CRCs that has been linked to a higher tumor stage, chronic inflammation, and poor prognosis. EMAST CRCs not exhibiting MSI have b…

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)

2018

IF 4.743 (2017); International audience; BackgroundRare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.ObjectiveThe purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.MethodsWe conducted next generation sequencing in 3 independent multigenerational families with atrial/junctional tachycardia with or without conduction disturbance, dilated cardiomyopathy, and sudden death. We also asse…