Results 71 to 80 of about 3,057,823 (340)

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

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Improvement of mouth functional disability in systemic sclerosis patients over one year in a trial of fat transplantation versus adipose-derived stromal cells [PDF]

, 2016
Background. Systemic sclerosis (SSc) is a multisystem disease characterized by cutaneous and visceral fibrosis. Face and mouth changes include telangiectasia, sicca syndrome, and thinning and reduction of mouth width (microcheilia) and opening ...
CARELLA, SARA, FINO, PASQUALE, FIORAMONTI, Paolo, MARCHESE, Cinzia, ONESTI, Maria Giuseppina, SCUDERI, Nicolo'   +5 more
core   +4 more sources

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Surgical wound dehiscence following cutaneous excisions: A retrospective study and review of the literature

Journal of Dermatology and Dermatologic Surgery, 2020
Background: Surgical wound dehiscence (SWD) is the third most common adverse event following dermatologic surgery. There have been no previous studies investigating risk factors for SWD following dermatologic surgery.
Jennifer Seyffert, Tanner Harding, Asmi Sanghvi, Nathan Bibliowicz, Martin Yungmann, Shawn Camner, Matthew Leavitt, James A Solomon   +7 more
doaj   +1 more source

Dermatology is a specialty; dermatology is not a subspecialty. [PDF]

, 2006
Specialization began in American medicine about the time of the War Between the States. Several factors spurred the direction of practitioners away from being the so-called “complete physicians.
Millikan, Larry E, Parish, Lawrence
core   +2 more sources

Disease Remission: A Scoping Review With Thematic Analysis of the Scientific Literature With Implications for Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Remission, a term used to describe a goal of treatment for some chronic diseases, has recently been proposed for chronic rhinosinusitis (CRS). However, it is unclear what remission means for CRS and why it should serve as a goal in the present‐day treatment of CRS.
Nikhil Parail, Lynn Warner, Stacey T. Gray, Claire Hopkins, Peter H. Hwang, Sarah K. Wise, Katie M. Phillips, Ahmad R. Sedaghat   +7 more
wiley   +1 more source

Role of ASLNC168501 in regulating hair follicle stem cell activity via the AR/miR-128-3p/IGF-1 pathway

Stem Cell Research & Therapy
Background Hair follicle stem cells (HFSCs) in androgenetic alopecia (AGA) patients exhibit functional impairment, reduced quantity, dysregulation, and androgen sensitivity, which hinder therapeutic strategies targeting HFSCs activation for hair ...
Xuewen Chen, Jingxiu Chai, Xuan Wang, Leimeng Gan, Qing Zhang, Hao Luo, Ling Wu, Yuchong Chen   +7 more
doaj   +1 more source

Z-Plasty: useful uses in dermatologic surgery [PDF]

Anais Brasileiros de Dermatologia, 2014
Z-Plasty is a procedure involving the transposition of two interdigitating triangular flaps. This technique is useful in a number of dermatological procedures. It can be used to correct defects resulting from surgical complications. This paper highlights
Hugo Barreiros, Joao Goulao
doaj   +1 more source

The postfinasteride syndrome; an overview [PDF]

, 2016
As a 5-α reductase inhibitor, Finasteride has proven effective in ameliorating two conditions documented to be androgen dependent, namely male androgenic alopecia and benign prostatic hyperplasia. Therapeutic results are maintained as long as the drug is
Banu, Petrisor, Bălălău, Cristian, Constantin, Vlad D., Motofei, Ion G., Popa, Florian, Păunică, Georgeta P., Păunică, Ioana, Păunică, Stana, Rowland, David L., Vasilache, Adriana   +9 more
core   +4 more sources