Results 91 to 100 of about 77,717 (297)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Precision TACE can be used as a minimally invasive treatment to relieve FAVA symptoms

Asian Journal of Surgery, 2023
Liang Wang, Jie Zhou, Dan Song, Lei Guo
doaj   +1 more source

Pediatric lymphomatoid papulosis – a case report and management considerations

Annales Academiae Medicae Silesiensis
Lymphomatoid papulosis (LyP) is a rare cutaneous disorder, most commonly observed in adults, and its occurrence in the pediatric population is exceedingly rare.
Michał Dec, Hubert Arasiewicz
doaj   +1 more source

Clinical Approaches to Vascular Anomalies of the Lip

, 2015
Background The incidence of vascular anomalies in the head and neck is higher than in the extremities. It is especially common for vascular anomalies to involve the lip.
Jeong Woo Lee, Joon Seok Lee, Seok-Jong Lee, Jong Min Lee, Kang Young Choi, Seung Huh, Ho Yun Chung, Jeong Yeop Ryu, Byung Chae Cho, Jung Dug Yang   +9 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus

Orphanet Journal of Rare Diseases
Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum of lymphatic malformations (LMs) that share similar oncogenic mutations to cancer.
Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M. Boon   +7 more
doaj   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]

, 2016
PHACE syndrome is a rare neurocutaneous disorder characterised by an association of infantile haemangiomas with structural anomalies of brain, cerebral vasculature, eye, aorta and chest wall.1 Coarctation of aorta (COA) is most the common cardiac anomaly
Baidwan, A., Ganigara, M., Sharma, B., Vyas, Y.S., Rao, Nitin K., Reddy, A.K.   +5 more
core  

Vascular anomalies [PDF]

Journal of Vascular Surgery, 1986
H H, Trout, H A, McAllister, J M, Giordano   +2 more
openaire   +2 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source