Results 101 to 110 of about 33,507 (210)
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 +11 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 +2 more
wiley +1 more source
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 +6 more
wiley +1 more source
British Journal of Health Psychology, Volume 31, Issue 3, September 2026.Abstract Objectives Research suggests that some adults with visible differences may experience challenges related to romantic relationships, sex and physical intimacy. Loving ACTion is a self‐guided Acceptance and Commitment Therapy (ACT)‐based intervention delivered as an audio podcast series, co‐produced with adults with visible differences and ...
Maia Thornton +6 more
wiley +1 more source
Spontaneous Hemothorax in a Patient with Neurofibromatosis Type 1: A Case Report
پزشکی بالینی ابن سینا, 2019 Background: Neurofibromatosis type1 (NF-1) is a hereditary autosomal dominant disease that is accompanied by complications, such as benign and malignant tumors and vascular involvement, including pulmonary hypertension, artery stenosis, and pulmonary ...
Zohreh Kahramfar, Oldooz Aloosh
doaj
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
Neurofibromatosis Type 1 in Pregnancy
Collegium antropologicum, 2006 The report presents two cases of neurofibromatosis type 1 one previously known and one detected during pregnancy. It describes how the disease was detected and diagnosed, and what was the outcome of pregnancies. This is the first case of prenatal neurofibromatosis type 1 diagnosed in our clinic.
Košec, Vesna, Márton, Ingrid
openaire +2 more sources
Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.ABSTRACT The peripheral nervous system (PNS) is responsible for innervating all regions of the body outside of the central nervous system (CNS), the latter consisting of the brain, spinal cord, and optic nerves. While myelin is an essential component for the efficient functioning of both CNS and peripheral nerve cells, it is particularly important for ...
Kathleen Margaret Hagen +1 more
wiley +1 more source
Sutural cataract in neurofibromatosis type 1
Indian Journal of Ophthalmology. Case Reports, 2023 Athul S Puthalath +2 more
doaj +1 more source