Results 71 to 80 of about 38,110 (241)
Embolization of a ruptured intercostal artery aneurysm in type I neurofibromatosis [PDF]
, 2017 We present the case of a female with history of a ruptured lumbar aneurysm years ago. She was known to have neurofibromatosis type I with the typical clinical signs. The patient was transferred to us with a hematothorax and an aortic lesion was suspected
Carrel, Thierry +3 more
core
Analysis of short-term blood pressure variability in pheochromocytoma/paraganglioma patients [PDF]
, 2019 Data on short-term blood pressure variability (BPV), which is a well-established cardiovascular prognostic tool, in pheochromocytoma and paraganglioma (PPGL) patients is still lack and conflicting.
Bisogni, V. +14 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
NEUROFIBROMATOSIS TYPE 1 IN A 32 YEAR OLD FEMALE: AN INTERESTING CASE REPORT
National Journal of Medical Research, 2014 Neurofibromatosis (NF) is characterized by neuroectodermal tumours arising within multiple organs withautosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen’s disease, is themost common type of the disease ...
Subrata Chakrabarti
doaj
Elephantiasis Neuromatosa in Neurofibromatosis Type I Mimicking Venocapillary Malformation
International Journal of Anatomy Radiology and Surgery, 2019 Elephantiasis neuromatosa is a rare clinical manifestation associated with the Neurofibromatosis Type 1 (NF1). A 14-year-old male presented with progressive non-tender swelling of left arm and forearm since birth, axillary freckling, café-au-lait macules
RISHIKANT SINHA +4 more
doaj +1 more source
Dowling-Degos Disease: Case Report and Review of the Literature [PDF]
, 2010 Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech +3 more
core +1 more source
Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases
Pediatric Investigation, EarlyView.Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang +3 more
wiley +1 more source
Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation [PDF]
, 2010 Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF).
Bahl, A, Bansal, S, Bhagat, S, Gupta, A
core +1 more source
PM&R, EarlyView.Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager +4 more
wiley +1 more source
Australian Endodontic Journal, EarlyView.ABSTRACT This report describes a rare case of alveolar rhabdomyosarcoma initially presenting with clinical features resembling an endodontic lesion. A 15‐year‐old male presented with progressive right maxillary swelling initially treated as a dental abscess.
Saliha Akçay Köprücü +3 more
wiley +1 more source