Results 101 to 110 of about 25,453,690 (257)

Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report

Radiology Case Reports
Neurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease.
Nadia El Mahi, Amal Mojahid, Hajar Siouri, Hamid Ziani, Siham Nasri, Imane Kamaoui, Imane Skiker   +6 more
doaj   +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, Volume 200, Issue 9, Page 2151-2156, September 2026.
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

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders

Clinical Cancer Research, 2017
D. Evans, H. Salvador, Vivian Y. Chang, A. Erez, S. Voss, H. Druker, Hamish S. Scott, U. Tabori   +7 more
semanticscholar   +1 more source

Australian Guideline for the Identification and Management of Hypertension in Children and Adolescents

Journal of Paediatrics and Child Health, EarlyView.
N. G. Larkins, T. Medley, A. Black, K. A. Bolton, S. Chaturvedi, M. Clark, G. M. Gabb, J. P. Glenning, C. Grimes, R. C. Huang, A. Hyland, C. Jeffries‐Stokes, L. Kalman, S. Kaul, S. Kim, S. McTaggart, R. Kowalski, S. X. Li, S. McNab, D. Metz, A. S. Mihailidou, J. Monin, M. Nelson, M. Pathak, D. Roebuck, M. P. Schlaich, R. Sleaby, C. Quinlan, J. P. Mynard   +28 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Radial Reconstruction With Fibular Free Flap Using CAD‐CAM and Virtual Surgical Planning in Pediatric Pseudoarthrosis due to Neurofibromatosis Type 1: A Case Report and Literature Review

Microsurgery, Volume 46, Issue 6, September 2026.
ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that causes skeletal dysplasia and congenital pseudoarthrosis of the forearm, which is very difficult to repair. The vascularized free fibular flap (FFF) is the standard treatment.
Alicia Dean, Manuel Román Torres, Concepción Centella Gutiérrez, Guillermo Rodríguez Martínez, Genoveva Molina Pérez, Francisco Alamillos Granados   +5 more
wiley   +1 more source

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

Genetics in Medicine, 2018
D. Evans, A. King, N. Bowers, S. Tobi, A. Wallace, M. Perry, Raji Anup, S. Lloyd, S. Rutherford, Charlotte L Hammerbeck-Ward, O. Pathmanaban, E. Stapleton, S. Freeman, M. Kellett, D. Halliday, A. Parry, Juliette Gair, P. Axon, R. Laitt, Owen M Thomas, Shazia K Afridi, R. Ferner, E. Harkness, M. Smith, The English Specialist NF2 Research Group   +24 more
semanticscholar   +1 more source

Multiple Oral and Eyelid Nodules in a Pediatric Patient

Oral Diseases, EarlyView.
Caique Mariano Pedroso, Paulo Victor Mendes Penafort, Patrícia Vitor de Souza, Fernanda M. Pascon, Regina Maria Punppin‐Rontani, Beatriz Frolini Paulo Cherve, Rachel Marinho Robim, Regina Maria Holanda de Mendonça, Marcio Ajudarte Lopes, Pablo Agustin Vargas, Alan Roger Santos‐Silva   +10 more
wiley   +1 more source

Impact of Institutional Protocol on Urinary Catheter Outcome Measures in Orthopedic Children Treated With Epidural Analgesia

Pediatric Anesthesia, Volume 36, Issue 9, Page 1089-1095, September 2026.
ABSTRACT Background Epidural analgesia is commonly used for pain control after major lower‐limb orthopedic surgery in children, but it is associated with a risk of postoperative urinary retention. Consequently, urinary catheters are often placed and left in situ for the full duration of epidural analgesia, despite the potential risks of prolonged ...
Idan Katz, Tomer Talmy, Dor Barami, Tal S. Beckmann, Barry Danino, Yotam Lior, Margaret Ekstein   +6 more
wiley   +1 more source

Cochlear implant in type 2 neurofibromatosis: an option for better hearing rehabilitation Implante coclear em neurofibromatose tipo 2: uma opção para melhor reabilitação auditiva

Brazilian Journal of Otorhinolaryngology, 2011
Oswaldo Laércio M Cruz, Eduardo A. S Vellutini   +1 more
doaj   +1 more source