Results 141 to 150 of about 163,928 (261)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Traumatic Coronary Artery Dissection After a Fall From a Roof. [PDF]

JACC Case Rep
Froeschl I, Barry Q, Totz K, Jung RG, Hancyz S, Hakimjavadi R, Ghanem C, Kolobaric N, Ahmed Z, Di Santo P.   +9 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Pulmonary Fibrosis and Pulmonary Function in Patients with Metastatic Testicular Cancer During and after Combination Chemotherapy: The BLEOTOX Study. [PDF]

Eur Urol Open Sci
Frey L, Grunwald S, Ruckes C, Duwe G, Wohlleber K, Frey LJ, Haack M, Rölz N, Dotzauer R, Korczynski D, Axel Haferkamp A, Brandt MP.   +11 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Comprehensive evaluation of a deep learning-based synthetic CT model for MR-only radiotherapy across multiple anatomical sites. [PDF]

Phys Imaging Radiat Oncol
Liang X, Lee C, Godley A, Wu J, Lin MH, Truong T, Lu W, Iakovenko V, Jiang S, Deng J.   +9 more
europepmc   +1 more source

Subtotal Versus Total Splenectomy in Children With Sickle Cell Disease: Clinical Outcomes and Splenic Function Assessed by Pocked Red Blood Cell Count

American Journal of Hematology, EarlyView.
Alma Al Sibaaie, Abdoulaye Sissoko, Carmen Capito, Christophe Chardot, Mariane de Montalembert, Valentine Brousse, Joséphine Brice, Martina Bevacqua, Camille Roussel, Lucie Dumas, Astan Cissé, Pierre Buffet, Slimane Allali   +12 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Gait Kinematic Adaptations Following Schroth Therapy in Individuals with Adolescent Idiopathic Scoliosis. [PDF]

J Clin Med
Argunsah H, Sarıkaya RB, Yavuz T, Albayrak A.   +3 more
europepmc   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source