Results 71 to 80 of about 97,595 (299)

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source

Upregulation of long noncoding RNA MIAT in aggressive form of chronic lymphocytic leukemias. [PDF]

, 2016
Long noncoding RNAs (lncRNAs) are non-proten-coding transcripts of more than 200 nucleotides generated by RNA polymerase II and their expressions are tightly regulated in cell type specific- and/or cellular differential stage specific- manner.
Croce, Carlo M, Kipps, Thomas J, Moshiri, Farzaneh, Nakamura, Tatsuya, Ngankeu, Apollinaire, Sattari, Arash, Siddiqui, Hasan   +6 more
core   +2 more sources

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

DOWN'S SYNDROME A NEW MATERNAL IRAQI RISK

The Iraqi Journal of Medical Sciences, 2016
Background: The occurrence of Down's syndrome is usually associated with advancing maternal age and increased parity. Objectives: This study explores the risk factor associated with the occurrence of Down's syndrome for different age groups.
Mohammed Sh. Tawfik
doaj   +4 more sources

Correlation of Pregnancy Associated Plasma Protein A and Zinc with Calculated Risk Ratio of Dual Test [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: First trimester screening by dual test is the most preferred method of antenatal screening. The detection rate of foetal aneuploidy using dual test is 95%.
Indranil Ghoshal, Bolar Suryakanth Varashree, Vijetha Shenoy Belle, Krishnananda Prabhu   +3 more
doaj   +1 more source

Human gene copy number spectra analysis in congenital heart malformations [PDF]

, 2012
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +2 more sources

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, EarlyView.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

Distribution of chromosome 18 and X centric heterochromatin in the interphase nucleus of cultured human cells [PDF]

, 1990
In situ hybridization of human chromosome 18 and X-specific alphoid DNA-probes was performed in combination with three dimensional (3D) and two dimensional (2D) image analysis to study the interphase distribution of the centric heterochromatin (18c and ...
Agard, Arnoldus, Avivi, Baumann, Belmont, Bennett, Blobel, Borden, Brakenhoff, Brinkley, Comings, Comings, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Devilee, Devilee, Emmerich, Guttenbach, Hadlaczky, Hayflick, Hens, Heslop-Harrison, Hilliker, Hopman, Hopman, Hubert, Johnson, Jovin, Kuhn, Landegent, Langer, Lichter, Lichter, Manuelidis, Manuelidis, Manuelidis, Manuelidis, Mathog, Nederlof, O'Brien, Ochs, Oud, Pinkel, Rappold, Rappold, Rawlins, Rosa, Sachs, Schardin, Schmid, Schroeder, Schwarzacher, Schwarzacher, Stelzer, Vogel, Wijnaendts-van-Resandt, Wollenberg, Yang   +63 more
core   +1 more source

Isolated Pleural Effusion as Presentation of a Large B‐Cell Lymphoma: A Case Report and Diagnostic Considerations

Journal of Clinical Laboratory Analysis, EarlyView.
A 79‐year‐old man presented with massive pleural effusion in which cytological examination revealed lymphoma cells without evidence of a solid tumor mass. Negative EBV in situ hybridization and negative HHV8 and HIV testing, combined with flow cytometric immunophenotyping and molecular findings, supported a diagnosis of fluid overload–associated large ...
Van Vlierberghe Magalie, Dewaide Rosina, Michaux Lucienne, Develter Wim, Van Aelst Sophie, Claerhout Helena   +5 more
wiley   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source