keyword
https://read.qxmd.com/read/38481300/robotic-resection-for-splenic-artery-aneurysm-associated-with-neurofibromatosis-type-1-a-case-report
#1
JOURNAL ARTICLE
Akihiko Ueda, Kenta Saito, Hiromichi Murase, Tomokatsu Kato, Hiroyuki Imafuji, Mamoru Morimoto, Ryo Ogawa, Hiroki Takahashi, Yoichi Matsuo, Shuji Takiguchi
BACKGROUND: Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system. Due to its connection with vascular fragility, neurofibromatosis type 1 has been reported to be associated with vascular lesions, such as aneurysms. However, there have been few reports of abdominal visceral aneurysms associated with neurofibromatosis type 1. Furthermore, there have been no reports of robotic treatment of aneurysms associated with neurofibromatosis type 1...
March 14, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38480589/pediatric-orbital-lesions-neoplastic-extraocular-soft-tissue-lesions
#2
JOURNAL ARTICLE
Samantha K Gerrie, Helen M Branson, Christopher J Lyons, Eman Marie, Heena Rajani, Cassidy S Frayn, Emily C M Hughes, Oscar M Navarro
Pediatric neoplastic extraocular soft-tissue lesions in the orbit are uncommon. Early multimodality imaging work-up and recognition of the key imaging features of these lesions allow narrowing of the differential diagnoses in order to direct timely management. In this paper, the authors present a multimodality approach to the imaging work-up of these lesions and highlight the use of ocular ultrasound as a first imaging modality where appropriate. We will discuss vascular neoplasms (congenital hemangioma, infantile hemangioma), optic nerve lesions (meningioma, optic nerve glioma), and other neoplastic lesions (plexiform neurofibroma, teratoma, chloroma, rhabdomyosarcoma, infantile fibrosarcoma, schwannoma)...
March 14, 2024: Pediatric Radiology
https://read.qxmd.com/read/38433161/use-of-pedicled-flaps-after-oncologic-resections-in-pediatric-patients
#3
REVIEW
María Dolores Blanco, Manuel de la Torre, Concepción Lorca, Agustín Del Cañizo, Isabel Bada, Sara Monje, María Antonia García-Casillas, Ángel Villa, Elena de Tomás, Beatriz Berenguer
The aim of this study is to review the indications of pedicled flaps and analyze the results. A observational retrospective study of under 18-year-old oncology patients who required reconstructive surgery with pedicled flaps between 2011 and 2022 was performed. Demographic and clinical variables, indications, complications, and outcomes were collected. 236 patients were reviewed and 13 met inclusion criteria, eight girls and five boys (mean age: 10.6 years). Indications were Ewing's sarcoma (5), osteosarcoma (5), neuroblastoma, desmoid tumor, and neurofibroma...
March 3, 2024: Pediatric Surgery International
https://read.qxmd.com/read/38428057/case-report-remarkable-efficacy-of-negative-pressure-wound-therapy-in-giant-lower-extremity-elephantiasis-neuromatosa-for-vascularization-skin-grafting-and-fluid-control
#4
Lisa Y Hasibuan, Almahitta Cintami Putri, Graciella Novian Triana Wahjoe Pramono
INTRODUCTION AND IMPORTANCE: Neurofibromatosis type 1 is a benign peripheral nerve tumor, often manifests as plexiform neurofibroma that may cause severe dysfunction, pain, and disfigurement. Bleeding has been reported as a complication of plexiform neurofibroma due to vascular fragility and vasculopathy that may develop into life-threatening bleeding especially after excision procedure. Consequently, post excision complications also include dehiscence and infection. CASE PRESENTATION: We report a 23-year-old male with elephantiasis of the left lower extremity due to giant plexiform neurofibroma who underwent preoperative embolization followed by serial surgical mass reduction...
February 22, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38402139/benign-non-odontogenic-pathology
#5
REVIEW
Aparna Bhat, Ryan Smart, Mark Egbert, Srinivas Susarla
This article provides a comprehensive overview of benign non-odontogenic pathologies. Bone-derived lesions like osteoma, osteoid osteoma, osteoblastoma, and osteochondroma are discussed in detail, emphasizing their radiographic features, locations, and treatment strategies. Cartilage-derived lesions such as chondroma, chondroblastoma, and chondromyxoid fibroma are also examined, noting their typical presentation and management approaches. The article then delves into fibroconnective tissue lesions. Mesenchymal and vascular lesions are detailed regarding their clinical and radiographic characteristics and treatment options...
February 23, 2024: Oral and Maxillofacial Surgery Clinics of North America
https://read.qxmd.com/read/38350375/use-of-the-subfascial-plane-in-debulking-an-extensive-lower-extremity-plexiform-neurofibroma-a-case-report
#6
Aishwarya Pandey, Dibij Adhikari, Apil Pokhrel, Amit Kumar Mishra, Samit Sharma
INTRODUCTION: Plexiform neurofibromas (PNs) are characterized by their diffuse masses with tortuous expansion along nerve branches. While surgery is the primary management for PNs, the optimal surgical approach remains unestablished. CASE PRESENTATION: A 35-year-old lady presented with a large hanging mass covering the medial aspect of the thigh and the leg. It caused discomfort, disfigurement, and occasional pain. The patient was planned for the debulking surgery under spinal anesthesia...
February 10, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38341368/imaging-review-of-the-atypical-spinal-epidural-space-pathologies
#7
REVIEW
Pokhraj Prakashchandra Suthar, Merve Ozen, Shelly Bhanot, Sumeet G Dua
Pathologies affecting the spinal epidural space (SES) comprise various abnormalities. However, they all have the potential to cause thecal sac narrowing or spinal cord compression. In this review, we group these pathologies into degenerative, infective, neoplastic, vascular, traumatic, and others, focusing on their imaging features. Degenerative pathologies of the SES range from disc to facet disease, with a particular emphasis on the less common degenerative pathologies in this review. Infective pathologies affecting the epidural space include spondylodiscitis and associated epidural phlegmon and abscess...
February 1, 2024: Current Problems in Diagnostic Radiology
https://read.qxmd.com/read/38284196/the-role-of-scoliosis-on-the-comorbidity-and-demographics-of-neurofibromatosis-type-1-patients-a-retrospective-analysis-of-the-national-inpatient-sample-database
#8
JOURNAL ARTICLE
Nilesh Kodali, Keshav D Kumar, Robert A Schwartz
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome in the United States, affecting every 1 in 3000 individuals. NF1 occurs due to non-functional mutations in the NF1 gene, which expresses neurofibromin, a protein involved in tumour suppression. As a result, NF1 typically presents with non-cancerous neoplasm masses called neurofibromas across the body. Out of all NF1 abnormalities, the most common skeletal abnormality seen in around 10%-30% of NF1 patients is scoliosis, an improver curvature of the spine...
January 2024: Experimental Dermatology
https://read.qxmd.com/read/38264918/investigations-on-ultrasonography-in-the-diagnosis-of-nodular-localized-cutaneous-neurofibroma
#9
JOURNAL ARTICLE
Yuzhou Shen, Run Wang, Chenyang Zhao, Li Liu, Desheng Sun, Xiangmei Chen
OBJECTIVE: To describe the ultrasound characteristics of nodular localized cutaneous neurofibroma (NLCN). MATERIALS AND METHODS: Clinical features and ultrasound characteristics of 43 lesions of 40 patients pathologically proven as NLCNs at Peking University Shenzhen Hospital from October 2014 to May 2022 were analyzed retrospectively. The location, length-to-thickness (L/T) ratio, thickness-to-width (T/W) ratio, shape, margin, capsule, echogenicity, echotexture, posterior features, vascularity, and "rat tail sign" were evaluated...
January 24, 2024: Journal of Clinical Ultrasound: JCU
https://read.qxmd.com/read/38132037/a-retrospective-analysis-of-high-resolution-ultrasound-evaluation-of-the-split-fat-sign-in-peripheral-nerve-sheath-tumors
#10
JOURNAL ARTICLE
Jeena B Deka, Ritu Shah, Miguel Jiménez, Nidhi Bhatnagar, Alfredo Bravo-Sánchez, Inés Piñas-Bonilla, Javier Abián-Vicén, Fernando Jiménez
Peripheral nerve sheath tumors (PNST) comprise schwannomas and neurofibromas. The finding of increased adipose tissue around benign PNSTs has been described as the "split fat sign" on magnetic resonance imaging exams, which is suggestive of an intramuscular or intermuscular location of the tumor. However, few studies have described this sign as a salient ultrasound feature of PNSTs. The main purpose of this study was to retrospectively evaluate the presence of increased fatty tissue deposition around benign PNSTs diagnosed by high-resolution ultrasound...
December 12, 2023: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38111842/mandibular-symmetry-on-posterior-anterior-cephalograms-of-neurofibromatosis-type-1-patients-with-facial-plexiform-neurofibroma
#11
JOURNAL ARTICLE
Reinhard E Friedrich, Georg Christ, Hanna A Scheuer
INTRODUCTION: Neurofibromatosis type 1 (NF1) is an is an autosomal dominant heritable tumor predisposition syndrome.. Peripheral nerve sheath tumors (PNST) are a hallmark of NF1. Plexiform neurofibromas (PNF) are neoplasms that are characteristic of NF1, often causing disfiguring effects (e.g., on the face), and are considered precancerous lesions. Previous studies have shown that facial PNF (FPNF) have an impact on the shape of facial bones. This study examines deviations of mandibular symmetry from cephalometric reference planes considering the topography of FPNF...
2023: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://read.qxmd.com/read/38104445/the-role-of-preoperative-ultrasound-in-the-management-of-peripheral-nerve-injuries
#12
JOURNAL ARTICLE
Ahmed R Elkholy, Essam M Rezk, Nehal Shabaan, Radwa M Elkhouly, Ebrahim A Shamhoot
BACKGROUND: Peripheral nerve injury refers to any damage or trauma to the nerves located outside the central nervous system. Ultrasonography is a reliable, cheap, and minimally invasive method in clinical practice to give physicians useful information about nerve injury. OBJECTIVES: to assess the power of ultrasound in determining the presence, localization, and extent of neural damage in patients with clinical evidence of peripheral nerve lesions before surgery...
December 13, 2023: Clinical Neurology and Neurosurgery
https://read.qxmd.com/read/37974859/angioneurofibroma-of-face-an-unusual-case-a-case-report
#13
JOURNAL ARTICLE
Kavyashree Sagare, Sharanbasappa Hatti, Prashanth Sagare
Neurofibroma may occur as a sporadic solitary lesion or as a part of neurofibromatosis,an autosomal dominant disorder first described by Daniel Friedrich von Recklinghausen in1882. Angioneurofibroma is considered as a new morphological variant of neurofibroma. These lesions can be mixed histopathologically with vascular tumors. A female patient presented with right side facial swelling,which is seen at childhood.On examination mass was measuring around 10 × 10 cm over right fronto temporoparietal region,which is soft in consistency and nodularity in between, pigmentary changes seen over overlying skin in some area, tumor is painless,not associated with functional deformity, not associated with thrill or fluctuancy,causing facial deformity...
December 2023: Indian Journal of Otolaryngology and Head and Neck Surgery
https://read.qxmd.com/read/37921028/assessment-of-the-utility-of-the-sarcoma-dna-methylation-classifier-in-surgical-pathology
#14
JOURNAL ARTICLE
Markku Miettinen, Zied Abdullaev, Rust Turakulov, Martha Quezado, Alejandro Luiña Contreras, Christian A Curcio, Janusz Rys, Malgorzata Chlopek, Jerzy Lasota, Kenneth D Aldape
Diagnostic classification of soft tissue tumors is based on histology, immunohistochemistry, genetic findings, and radiologic and clinical correlations. Recently, a sarcoma DNA methylation classifier was developed, covering 62 soft tissue and bone tumor entities. The classifier is based on large-scale analysis of methylation sites across the genome. It includes DNA copy number analysis and determines O 6 methylguanine DNA methyl-transferase methylation status. In this study, we evaluated 619 well-studied soft tissue and bone tumors with the sarcoma classifier...
January 1, 2024: American Journal of Surgical Pathology
https://read.qxmd.com/read/37915684/rare-giant-renal-artery-aneurysm-in-neurofibromatosis-type-1-patient-a-case-report
#15
JOURNAL ARTICLE
Ali Jawad, Zein Alabdin Hannouneh, Jameel Soqia, Zaher Al Nahhas, Adnan Ahmed, Mohamad Ali Nahas
INTRODUCTION AND IMPORTANCE: Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by multiple neurofibromas, café-au-lait spots, and iris hamartomas. The variety of vasculopathies that can occur in NF1 make it difficult for clinicians to accurately follow-up patients. Most cases of vasculopathies are stenotic, and, in few cases, aneurysms may form. CASE PRESENTATION: A 35-year-old male presented with extreme left flank pain for the past 2 days...
November 2023: Annals of Medicine and Surgery
https://read.qxmd.com/read/37906356/management-of-central-and-peripheral-nervous-system-tumors-in-patients-with-neurofibromatosis
#16
REVIEW
Rebecca Brown
Neurofibromatosis type I (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis represent a diverse group of genetic tumor predisposition syndromes with a shared feature of tumors affecting the peripheral nerve sheaths. PURPOSE OF REVIEW: Many advancements have been made in understanding the biologic underpinnings of these conditions, and in 2016 the first drug was approved by the FDA to treat pediatric symptomatic unresectable plexiform neurofibromas. RECENT FINDINGS: Mek inhibitors have provided a much-needed therapeutic avenue for NF1 patients with unresectable plexiform neurofibromas (PN), both for reduction of tumor bulk and for improvement in symptoms...
December 2023: Current Oncology Reports
https://read.qxmd.com/read/37716061/plexiform-neurofibromatosis-of-the-lower-back-a-rare-case-report
#17
Milan Kc, Samit Sharma, Jayan Man Shrestha
INTRODUCTION: Plexiform neurofibromatosis is a relatively rare manifestation of Type 1 neurofibromatosis (NF-1). This condition leads to gross disfiguration along with functional disability. We are presenting a case of 49 year male with Plexiform neurofibromatosis of lower back. The aim of this rare case report is also to discuss the management difficulties encountered. PRESENTATION OF CASE: A 49 year male presented to us with gradually increasing swelling over the lower back which was present since his 10 years of age...
September 13, 2023: International Journal of Surgery Case Reports
https://read.qxmd.com/read/37686284/insights-into-novel-choroidal-and-retinal-clinical-signs-in-neurofibromatosis-type-1
#18
REVIEW
Fabiana Mallone, Ludovico Alisi, Luca Lucchino, Valerio Di Martino, Marcella Nebbioso, Marta Armentano, Alessandro Lambiase, Antonietta Moramarco
Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs...
August 30, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37477762/prame-immunohistochemistry-in-soft-tissue-tumors-and-mimics-a-study-of-350-cases-highlighting-its-imperfect-specificity-but-potentially-useful-diagnostic-applications
#19
JOURNAL ARTICLE
Chloé Cammareri, Fanny Beltzung, Michael Michal, Lucile Vanhersecke, Jean-Michel Coindre, Valérie Velasco, François Le Loarer, Béatrice Vergier, Raul Perret
Preferentially expressed antigen in melanoma (PRAME) immunohistochemistry is currently used in pathology for the assessment of melanocytic neoplasms; however, knowledge of its expression patterns in soft tissue tumors is limited. PRAME immunohistochemistry (clone QR005) was assessed on whole tissue sections of 350 soft-tissue tumors and mimics (> 50 histotypes). PRAME immunoreactivity was evaluated as follows: 0 "negative" (0% positive cells); 1+ (1-25% positive cells); 2+ (26-50% positive cells); 3+ (51-75% positive cells), and 4+ "diffuse" (> 75% positive cells)...
August 2023: Virchows Archiv: An International Journal of Pathology
https://read.qxmd.com/read/37394935/facial-hematoma-induced-spontaneously-or-by-minimal-trauma-in-a-facial-plexiform-neurofibroma-a-case-report-and-literature-review
#20
JOURNAL ARTICLE
Sang Min Lee, Dae Ho Leem
Plexiform neurofibroma is a rare benign tumor and a special subtype of neurofibromatosis 1. This report is a literature review with a case of patient with facial hemorrhage observed at the site of neurofibroma removal in the right lower face due to minor trauma. Through PubMed search, using terms ((facial hematoma) OR (facial bleeding)) AND (neurofibromatosis), 86 articles were identified, and five related articles (six patients) were finally selected. Of the six patients, two had previously undergone embolization...
June 30, 2023: Journal of the Korean Association of Oral and Maxillofacial Surgeons
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