Results 81 to 90 of about 206,187 (286)

The Design of Mechanically Compatible Fasteners for Human Mandible Reconstruction [PDF]

, 1993
Mechanically compatible fasteners for use with thin or weakened bone sections in the human mandible are being developed to help reduce large strain discontinuities across the bone/implant interface.
Biermann, Paul J., Ecker, John A., Roberts, Jack C.   +2 more
core   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

The biological embedding of early-life socioeconomic status and family adversity in children's genome-wide DNA methylation. [PDF]

, 2018
AimTo examine variation in child DNA methylation to assess its potential as a pathway for effects of childhood social adversity on health across the life course.Materials & methodsIn a diverse, prospective community sample of 178 kindergarten ...
Adler, Nancy E, Boyce, W Thomas, Bush, Nicole R, Edgar, Rachel D, Essex, Marilyn J, Kobor, Michael S, MacIsaac, Julia L, McEwen, Lisa M, Park, Mina   +8 more
core   +1 more source

Linear verrucous epidermal nevus with oral manifestations: report of two cases [PDF]

, 2020
Linear verrucous epidermal nevi (LVEN) are characterized by verrucous papules often coalescing into well-demarcated skin-colored or brown plaques following the lines of Blaschko.
Gomes, Rafael Tomaz, Lopes, Marcio Ajudarte, Santos-Silva, Alan Roger, Tomimori, Jane, Vargas, Pablo Agustin   +4 more
core  

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Opioid-induced constipation: rationale for the role of norbuprenorphine in buprenorphine-treated individuals

Substance Abuse and Rehabilitation, 2016
Lynn R Webster,1 Michael Camilleri,2 Andrew Finn3 1PRA Health Sciences, Salt Lake City, UT, 2Mayo Clinic Rochester, MN, 3BioDelivery Sciences, Inc., Raleigh, NC, USA Abstract: Buprenorphine and buprenorphine–naloxone fixed combinations are ...
Webster LR, Camilleri M, Finn A
doaj  

Tubularized urethral reconstruction using a prevascularized capsular tissue prelaminated with buccal mucosa graft in a rabbit model

Asian Journal of Andrology, 2019
Tubularized graft urethroplasty fails largely because of inadequate graft take. Prefabrication of buccal mucosa lined flap has theoretical indications for constructing neourethra with an independent blood supply.
Hai-Lin Guo, Zhi-Ming Jia, Lin Wang, Xing-Qi Bao, Yi-Chen Huang, Jun-Mei Zhou, Hua Xie, Xiu-Jun Yang, Fang Chen   +8 more
doaj   +1 more source

Spontaneous Iliopsoas Hematoma following Microvascular Free Tissue Transfer. [PDF]

, 2017
Spontaneous hematoma within the iliopsoas muscle (SIH) is a rare complication most commonly seen in coagulopathic patients. Often, patients undergoing microvascular free tissue transfer are anticoagulated for anastomotic patency.
Alemi, A Sean, Faden, Daniel L, Heaton, Chase M, Markey, Jeffrey D, Naunheim, Margaret L, Seth, Rahul   +5 more
core   +2 more sources

Mechanisms of Mitochondrial Toxicity and Cytotoxicity Caused by Pseudomonas aeruginosa Pyocyanin in Human Nasal Epithelial Cells

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Pseudomonas aeruginosa is an opportunistic pathogen in cystic fibrosis‐related chronic rhinosinusitis (CF‐CRS) that produces phenazine metabolites pyocyanin and 1‐hydroxyphenazine (1‐HP), which may have detrimental effects on mitochondria, reactive oxygen species (ROS), Ca2+ signaling, and apoptosis.
Joel C. Thompson, April Park, Yobouet Ines Kouakou, Zoey A. Miller, Nabil F. Darwich, Nithin D. Adappa, James N. Palmer, Ryan M. Carey, Robert J. Lee   +8 more
wiley   +1 more source