Results 91 to 100 of about 11,135 (284)

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

An island pedicle advancement flap – effective technique for the repair of nasolabial defects

Turkderm Turkish Archives of Dermatology and Venereology, 2021
Leyla Huseynova, Gonca Elçin
doaj   +1 more source

Family physicians' perceptions and referral preferences for dermatologists in cutaneous and cosmetic procedures: A nationwide study

Turkderm Turkish Archives of Dermatology and Venereology
Background and Design: Dermatologic issues constitute a considerable portion of primary care visits, with a steadily increasing demand for cutaneous and cosmetic procedures.
Ozan Erdem, Battal Emre Şahin, Leyla Huseynova Terzi, Taha Hakan Akbulut, Mehmet Salih Gürel   +4 more
doaj   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

A retrospective study of the anterolateral thigh perforator flap in the treatment of chronic osteomyelitis of the leg with skin defects

JPRAS Open
Background: As a chronic inflammatory process, chronic osteomyelitis is caused by bacterial infections that lead to bone destruction. This disease is more common in patients with open fractures and those undergoing multiple surgical procedures after ...
Zhegang Zhou, Longbiao Yu, Fanbin Meng, Jingjing Wen, Yingfeng Xiao, Shengxiang Wan, Jing Yan, Hui Zeng, Fei Yu   +8 more
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Interventions for ingrowing toenails [PDF]

, 2012
Minor ...
Aksahal, Altinyazar, Anderson, Andrew, Antrum, Arai, Arista, Beck, Boberg, Bos, Bossers, Bostanci, Burssens, Cameron, Cox, Córdoba-Fernandez, DeLauro, Dovison, Dunn, El-Shaer, Flores, Foley, Gem, Gem, Gerritsma-Bleeker, Greig, Grieg, Gunal, Ham, Heidelbaugh, Herold, Higgins, Holt, Issa, Kim, Kocyigit, Kruijff, Larsen, Leahy, McIntosh, Morkane, Perry, Peyvandi, Reyzelman, Ross, Rounding, Schulte, Schütte, Shaath, Sykes, Sykes, Sykes, Tada, Tait, Tatlican, Varma, Wallace, Westert, Winograd, Yang, Zaba, Zadik   +61 more
core   +2 more sources

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source

Androgenic alopecia; the risk–benefit ratio of Finasteride [PDF]

, 2018
Finasteride is currently approved and largely used as a therapeutic option for androgenetic alopecia. Apparently a safe drug and effective at the onset of its application, several concerns have since appeared over the years regarding the frequency and ...
Banu, Petrișor, Constantin, Vlad D., Motofei, Ion G., Nistor, Mihaela F., Păunică, Ioana, Păunică, Stana, Rowland, David L.   +6 more
core   +3 more sources