Results 201 to 210 of about 748,768 (294)

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Valve-in-Valve Repair in a Critically Ill Obstetric Patient with Severe Pulmonary Stenosis: A Rare Case. [PDF]

Healthcare (Basel)
Pfeiffer AF, Young H, Zarudskaya O, Doyle N, Rizvi SAA.   +4 more
europepmc   +1 more source

Nasal Obstruction Is Reduced 5–7 Years After Radiofrequency Turbinate Reduction: Results From a Retrospective Observational Cohort Study

Clinical Otolaryngology, EarlyView.
ABSTRACT Introduction Nasal obstruction, often caused by structural and inflammatory conditions, is prevalent and significantly impacts health‐related quality of life. Radiofrequency Turbinate Reduction (RFTR) is a widely employed treatment for inferior turbinate hypertrophy, yet evidence of its long‐term effectiveness remains limited. This study aimed
Veronica Ahlund, Pål Rosholm Comstedt, Maria Värendh, Pernilla Sahlstrand‐Johnson   +3 more
wiley   +1 more source

Echocardiographic Evaluation of Indices of Severity of Pulmonary Stenosis in Dogs: Reproducibility and Effects of General Anesthesia. [PDF]

J Vet Intern Med
Ross ES, Visser LC, Tantisuwat L, Mama K, Potter BM, Scansen BA.   +5 more
europepmc   +1 more source

Musculoskeletal health among adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the burden of, and investigate prognostic factors for, osteoarthritis, osteopenia and/or osteoporosis, spondylosis, and fracture, and to investigate the effectiveness of protocols for monitoring musculoskeletal disorders and interventions for managing osteoarthritis in adults with cerebral palsy (CP).
Jennifer M. Ryan, Jessica Burke, Rachel Byrne, Emily Capellari, Christina M Marciniak, Maram Sofiany, Reuel Jalal, Mark Peterson, The Adult CP Clinical Practice Guideline Working Group, Jan Willem Gorter, Ashley Harris Whaley, Christine Imms   +11 more
wiley   +1 more source

Characterization of a Novel <i>GATA4</i> Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis. [PDF]

Int J Mol Sci
Fabiani M, Zangheri C, Cima A, Monaco F, Ali' C, Barone MA, Viola A, Mesoraca A, Margiotti K, Giorlandino C.   +9 more
europepmc   +1 more source

Anterior Mediastinal Mass Mimicking Supravalvular Pulmonary Stenosis With Systolic Murmur. [PDF]

JACC Case Rep
Azizee MF, Hussin SA, Mohamad Jamali AA, Hussain AH, Mamat AZ, Marzuki A, W Isa WYH, Yusof Z.   +7 more
europepmc   +1 more source

Severe chronic neutrophilic cholangiohepatitis with massive choledocholithiasis and hepatolithiasis in a pony

Equine Veterinary Education, EarlyView.
Summary A 20‐year‐old Camargue pony mare was referred for acute‐onset neurological signs and intermittent colic. Clinical examination revealed obtundation, cranial nerve deficits, head pressing, ventral strabismus and ataxia. Laboratory analyses showed marked hyperammonaemia, hyperbilirubinemia, severe increases in liver enzymes, hypoalbuminaemia and ...
C. Maino, N. Ellero, M. Morini, L. V. Muscatello, S. Sabattini, G. Bettini   +5 more
wiley   +1 more source

Pulmonary stenosis-related proteinuria misdiagnosed as nephrotic syndrome. [PDF]

Ann Pediatr Cardiol
Faisal NV, Kadiyani L, Gupta SK.
europepmc   +1 more source

Utility of the SWAM (Separator With Aspirator for Mechanical Thrombectomy) Device in Managing Hemodialysis Access Thrombosis

Hemodialysis International, EarlyView.
ABSTRACT Background Hemodialysis access thrombosis is the primary cause of access failure. Thrombus removal is an effective strategy to restore access function. Although both open surgical and endovascular procedures enable thrombus clearance, endovascular thrombus reduction therapy is widely adopted in clinical practice for this condition due to its ...
Lin Li, Zhongwang Zhang, Hongjie Wang, Mingdi Zhu, Kun Wang, Zheng Liu   +5 more
wiley   +1 more source