Results 51 to 60 of about 5,885 (177)

Anatomical Challenges During Left‐Sided Accessory Pathway Ablation in a Patient With Pectus Carinatum

Journal of Arrhythmia, Volume 42, Issue 4, August 2026.
In a patient presenting with Wolff‐Parkinson‐White syndrome and pectus carinatum, cardiac rotation rendered conventional RAO and LAO views unreliable during left‐sided accessory pathway ablation. Customized fluoroscopic views with caudal angulation allowed for successful ablation, supporting pre‐procedural CT imaging to plan for patient specific ...
Shonda Ng, Shih‐Lin Chang, Danica Ann D. Leycano, Li‐Wei Lo, Shih‐Ann Chen   +4 more
wiley   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Using peri‐operative patient‐ and parent‐reported experience and outcome measures to identify paediatric postsurgical recovery trajectories: an observational cohort study

Anaesthesia, Volume 81, Issue 7, Page 959-971, July 2026.
Summary Introduction Identifying postoperative pain trajectories and pre‐operative risk factors may support preventative measures and enhance pain management. We aimed to determine the feasibility of gathering peri‐operative data from families of children, describe their recovery trajectories and identify risk factors for high postsurgical pain ...
Samantha Pang, Nicholas West, Haoyu Zhao, Jessica Luo, Neil K. Chadha, Lynnie R. Correll, Heng Gan, Matthias Görges   +7 more
wiley   +1 more source

Exercise impairment in patients with pectus excavatum? A scoping review of evidence and role of arterial content change during effort

Physiological Reports, Volume 14, Issue 13, July 2026.
Abstract This scoping review describes cardiopulmonary fitness in non‐operated patients with pectus excavatum and maps the reporting of hemoglobin and arterial oxygen content during exercise. Four databases (PubMed, ScienceDirect, CINAHL, and SPORTDiscus) were searched from inception to February 15th, 2025.
Maxime Lokietek, Simon Lecoq, Laura Filaire, Bénédicte Noury‐Desvaux, Mariève Houle, Pierre Abraham   +5 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Early‐Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dyskeratosis congenita (DC) is a rare telomere biology disorder characterized by mucocutaneous abnormalities and progressive bone marrow failure. We report a 10‐year‐old boy with a hemizygous DKC1 c.1058C > T (p.Ala353Val) variant who presented with unusually early mucocutaneous findings, including oral leukoplakia at 2 years of age, followed ...
Harun Kasapoğlu, Aslı Turgutoğlu Yılmaz, Berkin Berk Akbeyaz, Neslihan Çalışkan, Yılmaz Ay   +4 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Repair of pectus excavatum in a toddler with Prune Belly syndrome and left bronchus compression

Journal of Pediatric Surgery Case Reports, 2017
A 2-year-old boy with prune-belly syndrome and severe pectus excavatum experienced recurrent pulmonary infections. A CT scan of the chest demonstrated compression of the left mainstem bronchus and leftward shift of the heart.
Shawn T. Liechty, Henry J. Baskin, Rebecka L. Meyers, Michael D. Rollins   +3 more
doaj   +1 more source

Pectus Excavatum

Annals of thoracic surgery, 2023
Background: Pectus excavatum is the most common congenital anterior chest wall deformity. Currently, a wide variety of diagnostic protocols and criteria for corrective surgery are being used. Their use is predominantly based on local preferences and experience. To date, no guideline is available, introducing heterogeneity of care as observed in current
Janssen, Nicky, Daemen, Jean H. T., van Polen, Elise J., Coorens, Nadine A., Jansen, Yanina J. L., Franssen, Aimée J. P. M., Hulsewé, Karel W. E., Vissers, Yvonne L. J., Haecker, Frank-Martin, Milanez de Campos, Jose R., de Loos, Erik R., Abramson, Horacio A., Aguiar, Wolfgang W. S., Alder, Adam C., Ambriz-González, Gabriela, Andrews, James, Backhus, Leah M., de Beer, Sjoerd A., de Campos, José Ribas M., Chu, Chih-Chun, Currie, Bruce G., Darlong, Laleng M., Dhannapuneni, Ramana, Doody, Daniel P., Elmo, Gastón, Emil, Sherif, Villacampa, Ricardo Escartín, Ferrari, Paolo A., Fortmann, Caroline, Goretsky, Michael J., Hebra, Andre, van der Heide, Stefan M., Hendriks, Jeroen M. H., Hensens, Ab G., Heyman, Stijn R. G., van Huijstee, Pieter J., Infante, Maurizio V., Jaroszewski, Dawn E., Kelly, Robert E., Marres, Geertruid M. H., von Meyenfeldt, Erik M., Omanik, Pavol, Oomen, Matthijs W., Peredo, Alfredo W., Perez-Alonso, David, Petersen, Claus, Pilegaard, Hans K., Prada-Arias, Marcos, Rebhandl, Winfried, Zarama, Ricardo M., Ryan, Daniel P., de Ryck, Frederic, Schewitz, Ivan, Tedde, Miguel L., Thomas, Mathew, de la Torre, Carlos A., van Veer, Hans G. L., Vervloessem, Dirk, van de Wauwer, Caroline, Wimmer, Cosmas D., Yildiran, Huseyin, Yuksel, Mustafa, Zijp, Gerda W.   +62 more
openaire   +1 more source