Results 81 to 90 of about 1,216,010 (297)

Molecular genetics of epilepsy: A clinician's perspective

Annals of Indian Academy of Neurology, 2017
Epilepsy is a common neurological problem, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes the patient assured of the reasons of his/her seizures and avoids unnecessary, expensive, and ...
Vikas Dhiman
doaj   +1 more source

How Can We Move Clinical Genomics Beyond the Hype? [PDF]

, 2011
Examines the debate over increased use of genetic testing, due in part to lax regulation, and its consequences: wasteful spending, patient harm, and health system challenges.
Michael L. Millenson
core  

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
core   +2 more sources

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles, Greg Russell, Leila H. DeWitt, Kimberly Montez, Callie L. Brown   +4 more
wiley   +1 more source

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]

, 2018
BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C, Germain, Dominique P, Jovanovic, Ana, Kempf, Judy, Laney, Dawn A, Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P, Waldek, Stephen, Wanner, Christoph   +15 more
core   +1 more source

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Infection Control Practices for Vascular Access Management in Hemodialysis: Results From a Nationwide Survey of Japanese National University Hospitals

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Bloodstream infections due to repeated vascular access (VA) puncture and circuit connections remain major concerns in hemodialysis. Therefore, we examined current practices for glove, disinfectant, and personal protective equipment (PPE) use according to VA type in national university hospitals in Japan.
Aiko Yamada, Makoto Harada, Tadahiko Kikugawa, Takeshi Nakata, Koji Hashimoto, Tsuneo Konta, Yuji Kamijo   +6 more
wiley   +1 more source

Evaluating the role of a galanin enhancer genotype on a range of metabolic, depressive and addictive phenotypes [PDF]

, 2014
Funded by •ERC. Grant Number: 284167 •NIH. Grant Number: 1RO1DK0921127-01 •NWO.
Day, Ian, Farrer, Lindsay A, Gelernter, Joel, Heron, Jon, Hickman, Matthew, Kranzler, Henry R, Lewis, Glyn, MacKenzie, Alasdair, Minica, Camelia, Munafò, Marcus, Richardson, Tom G, Tavare, Jeremy, Vink, Jacqueline M, Wynick, David   +13 more
core   +2 more sources