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Neurology India 2020The study was done to review the literature about the intriguing aspects of the aneurysmal bone cyst and to describe our experience with these cases. (Review)
Review
AIMS
The study was done to review the literature about the intriguing aspects of the aneurysmal bone cyst and to describe our experience with these cases.
DESIGN
Retrospective.
MATERIAL AND METHOD
We reviewed the records of all patients with primary spinal tumours whom we managed over last 8 years. We selected the patients with biopsy proven aneurysmal bone cyst (ABC) for our study.
RESULTS
Four patients (two males and two females) were included. The age ranged from 15-18 years. Three of them had neurological deficits and one had only pain. All of them were operated and three required instrumentation for stabilization. Neurological deficits improved in all the cases. However we had to re- operate one of the cases for recurrence and that patient was administered adjuvant radiotherapy.
CONCLUSIONS
ABC is not a tumour in real sense but due to destructive nature that are classified as tumours. The patients have an excellent outcome as the disease is benign and has very low recurrence rates if surgical excision is complete. Best treatment modality is complete excision. Aneurysmal bone cyst is one of the uncommon tumors of the spine, and many of its features continue to be unclear even today. There is ambiguity about the definition, etiopathogenesis, radiological characteristics, histopathology and treatment modalities. They are common in young age and etiology is not clear. The presentation is varied with pain being the common symptom and neurological deficit depends on extent of cord involvement. The best treatment is controversial although surgery is believed to be curative in the majority of cases. We here describe our experience with four such cases who had varied clinical presentation and outcome.
Topics: Adolescent; Bone Cysts, Aneurysmal; Cervical Vertebrae; Female; Humans; Male; Neoplasm Recurrence, Local; Retrospective Studies; Spinal Diseases
PubMed: 32859826
DOI: 10.4103/0028-3886.293465 -
International Journal of Surgery... Apr 2023Various treatment options have been introduced for the management of primary tumors of the brachial plexus (BP), ranging from conservative therapy to wide local excision...
BACKGROUND
Various treatment options have been introduced for the management of primary tumors of the brachial plexus (BP), ranging from conservative therapy to wide local excision with/without postoperative chemoradiotherapy. However, no consensus exists regarding optimal treatment strategies based on collated and published data.
OBJECTIVE
The aim of this study was to investigate the clinicopathological characteristics and outcome of patients with primary tumors of the BP who underwent surgical treatment.
DATA SOURCES
A systematic search of the four main online databases, including Web of Science (WOS), PubMed, Scopus, and Google Scholar, was conducted.
STUDY SELECTION
All related articles addressing the clinical outcome and role of surgical interventions for management of primary tumors of the BP.
INTERVENTION
Optimal surgical and radiotherapeutic interventions for benign and malignant lesions based on the pathologic characteristics and location of primary BP tumors.
RESULTS
A total of 687 patients (693 tumors) with a mean age of 41.7±8.7 years old were evaluated. In total, 629 (90.8%) tumors were benign, and 64 (9.2%) were malignant, with a mean tumor size of 5.4±3.1 cm. The location of the tumor was reported for 639 patients. For these tumors, 444 (69.5%) originated from the supraclavicular region, and 195 (30.5%) were infraclavicular. The trunks were the most common location for tumor involvement, followed by the roots, cords, and terminal branches. Gross total resection was achieved in 432 patients and subtotal resection (STR) was performed in 109 patients. With neurofibromas, STR still resulted in good outcomes. The outcomes following treatment of malignant peripheral nerve sheath tumors were poor regardless of the type of resection. In general, symptoms related to pain and sensory issues resolved rapidly postoperatively. However, the resolution of motor deficits was often incomplete. Local tumor recurrence occurred in 15 (2.2%), patients and distant metastasis was observed in only eight (1.2%) cases. The overall mortality was 21 (3.1%) patients among the study population.
LIMITATIONS
The main limitation was the lack of level I and II evidence.
CONCLUSIONS
The ideal management strategy for primary BP tumors is complete surgical resection. However, in some cases, particularly for neurofibromas, STR may be preferable to preserve maximal neurological function. The degree of surgical excision (total or subtotal) mainly depends on the pathological characteristics and primary location of the tumor.
Topics: Humans; Adult; Middle Aged; Nerve Sheath Neoplasms; Treatment Outcome; Neurofibroma; Brachial Plexus; Demography; Retrospective Studies
PubMed: 37097618
DOI: 10.1097/JS9.0000000000000309 -
BMJ Open Jul 2022Neurofibromatosis type 1 (NF1) is a genetic disorder in which chronic pain commonly occurs. The study sought to understand the needs of individuals with NF1 and pain...
Perspectives on adapting a mobile application for pain self-management in neurofibromatosis type 1: results of online focus group discussions with individuals living with neurofibromatosis type 1 and pain management experts.
OBJECTIVE
Neurofibromatosis type 1 (NF1) is a genetic disorder in which chronic pain commonly occurs. The study sought to understand the needs of individuals with NF1 and pain management experts when adapting a pain self-management mobile health application (app) for individuals with NF1.
DESIGN
We conducted a series of online, audio-recorded focus groups that were then thematically analysed.
SETTING
Online focus groups with adults currently residing in the USA.
PARTICIPANTS
Two types of participants were included: individuals with NF1 (n=32 across six focus groups) and pain management experts (n=10 across three focus groups).
RESULTS
Six themes across two levels were identified. The individual level included lifestyle, reasons for using the mobile app and concerns regarding its use. The app level included desired content, desired features and format considerations. Findings included recommendations to grant free access to the app and include a community support feature for individuals to relate and validate one another's experience with pain from NF1. In addition, participants noted the importance of providing clear instructions on navigating the app, the use of an upbeat, hopeful tone and appropriate visuals.
CONCLUSIONS
Both participant groups endorsed the use of iCanCope (iCC) as an NF1 pain self-management mobile app. Differences between groups were noted, however. The NF1 group appeared interested in detailed and nuanced pain tracking capabilities; the expert group prioritised tracking information such as mood, nutrition and activity to identify potential associations with pain. In tailoring the existing iCC app for individuals with NF1, attention should be paid to creating a community support group feature and to tailoring content, features and format to potential users' specific needs.
Topics: Adult; Chronic Pain; Focus Groups; Humans; Mobile Applications; Neurofibromatosis 1; Pain Management; Self-Management
PubMed: 35840301
DOI: 10.1136/bmjopen-2021-056692 -
AJNR. American Journal of Neuroradiology Sep 2012Chronic low back and neck pain remain prevalent medical concerns, with much debate regarding the effective evaluation and treatment. Facet disease has been implicated as... (Review)
Review
Chronic low back and neck pain remain prevalent medical concerns, with much debate regarding the effective evaluation and treatment. Facet disease has been implicated as a source of axial nonradiating low back pain. We discuss patient evaluation, the role of imaging, current and emerging image-guided therapies for facet-related pain, and the increasing importance of outcome-related research in this arena.
Topics: Catheter Ablation; Chronic Disease; Decompression, Surgical; Humans; Injections, Intra-Articular; Intervertebral Disc Degeneration; Low Back Pain; Neck Pain; Orthopedic Fixation Devices; Radiography, Interventional; Synovial Cyst; Zygapophyseal Joint
PubMed: 21940805
DOI: 10.3174/ajnr.A2696 -
JSLS : Journal of the Society of... 2017Duplications of the alimentary tract are rare anomalies. We report our experience with foregut duplication cysts including their clinical presentation, diagnostic...
BACKGROUND AND OBJECTIVES
Duplications of the alimentary tract are rare anomalies. We report our experience with foregut duplication cysts including their clinical presentation, diagnostic modalities, and surgical management.
METHODS
We report a 20-year retrospective review of all foregut duplication cysts managed at our institution.
RESULTS
Twelve patients with 13 foregut duplication cysts were identified. The ages of the children at the time of surgery ranged from infancy to adolescence, with a mean age of 7.2 years. Half of the patients presented with abdominal pain and vomiting, and the remaining either had respiratory distress or were asymptomatic. All resections were performed electively. Two of the 11 patients had other congenital anomalies, including a congenital pulmonary airway malformation and coarctation of the aorta. One patient had prenatal diagnosis by ultrasonography. Nine patients underwent complete successful excision with no complications. Three patients whose symptoms resolved during hospitalization remained under observation because of parental preference.
CONCLUSIONS
Foregut malformation in children may present with a variety of symptoms or can be found incidentally. The decision and timing of surgery is based on the clinical presentation. Surgical intervention in asymptomatic patients should be based on a thorough discussion with the parents.
Topics: Abdominal Pain; Adolescent; Child; Child, Preschool; Cysts; Esophageal Diseases; Female; Humans; Infant; Male; Mediastinal Diseases; Respiration Disorders; Retrospective Studies; Stomach Diseases; Vomiting
PubMed: 28642639
DOI: 10.4293/JSLS.2017.00017 -
Medicine Feb 2018Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation...
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45.9%). Peripheral schwannomas were detected in 3 LZTR1-mutant (60%) and 10 SMARCB1-mutant subjects (66.7%). Among those with peripheral tumors, the median tumor number was 4 in the LZTR1 group (median total body tumor volume 30 cc) and 10 in the SMARCB1 group (median volume 85cc), (P=.2915 for tumor number and P = .2289 for volume). mutation was associated with an increased prevalence of spinal schwannomas (100% vs 41%, P = .0197). The median pain score was 3.9/10 in the LZTR1 group and 0.5/10 in the SMARCB1 group (P = .0414), and SF-36 pain-associated quality of life was significantly worse in the LZTR1 group (P = .0106). Pain scores correlated with total body tumor volume (rho = 0.32471, P = .0499), but not with number of tumors (rho = 0.23065, P = .1696).We found no significant difference in quantitative tumor burden between mutational groups, but spinal schwannomas were more common in LZTR1-mutant patients. Pain was significantly higher in LZTR1-mutant than in SMARCB1-mutant patients, though spinal tumor location did not significantly correlate with pain. This suggests a possible genetic association with schwannomatosis-associated pain.
Topics: Adult; Cancer Pain; Cohort Studies; Female; Genetic Association Studies; Germ-Line Mutation; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neurilemmoma; Neurofibromatoses; Pain Measurement; Quality of Life; SMARCB1 Protein; Skin Neoplasms; Transcription Factors; Tumor Burden; Whole Body Imaging
PubMed: 29384852
DOI: 10.1097/MD.0000000000009717 -
Journal of Neuro-oncology Sep 2022Peripheral and intraspinal schwannomas are common and clinically complex pathologies in patients with Neurofibromatosis Type 2 (NF2) and Schwannomatosis (SWNT).... (Observational Study)
Observational Study
INTRODUCTION
Peripheral and intraspinal schwannomas are common and clinically complex pathologies in patients with Neurofibromatosis Type 2 (NF2) and Schwannomatosis (SWNT). Functional preservation and pain relief are the major goals in treating these tumors.
METHODS
This retrospective observational study investigates the clinical and functional outcome of 205 operated peripheral (n = 148, 72%) and intraspinal (n = 57, 28%) schwannomas in 85 patients (53 NF2, 32 SWNT) treated at our department between 2006 and 2017. Associated factors such as genetics, age, and location were evaluated.
RESULTS
Persisting drug-resistant pain was the most common symptom (84%, n = 173) and indication for surgery (54%, n = 110). Improvement in pain intensity was postoperatively seen in 81%. Peripheral nerve schwannomas exhibited worse pain intensity preoperatively compared to intraspinal lesions (p = 0.017 NF2, p = 0.029 SWNT). More total resections could be achieved in 93% of SWNT vs. 82% of NF2-associated tumors, p = 0.030). NF2 patients with intraspinal lesions were more neurologically affected (p < 0.05). Perioperative comparison of both tumor syndromes showed more neurological deficits (p = 0.027), and less pain (p = 0.024) in NF2-associated tumors. Mosaic NF2 patients had worse pain levels before surgery, and SWNT patients had a worse neurological function and more pain compared to non-mosaic or non-mutated cases.
CONCLUSIONS
Resection of peripheral and intraspinal schwannomas is an effective and low-risk treatment in both NF2 and SWNT. Patients with severe pain have a particular benefit from surgical treatment. Intraspinal lesions are associated with worse neurological function whereas peripheral lesions showed a higher pain intensity. The influence of mutations needs to be further investigated in larger cohorts.
Topics: Humans; Neurilemmoma; Neurofibromatoses; Neurofibromatosis 2; Pain; Skin Neoplasms
PubMed: 35771312
DOI: 10.1007/s11060-022-04061-0 -
BMJ Case Reports Aug 2012Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate... (Review)
Review
Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management.
Topics: Abdominal Pain; Child, Preschool; Cysts; Female; Humans; Laparotomy; Omentum; Peritoneal Diseases; Treatment Outcome
PubMed: 22865812
DOI: 10.1136/bcr-2012-006643 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Jun 2022Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disease in which a mutation in the NF1 gene on chromosome 17q11.2 results in inactivation or... (Review)
Review
Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disease in which a mutation in the NF1 gene on chromosome 17q11.2 results in inactivation or down-regulation of neurofibromin. This results in a series of neurocutaneous lesions characterized by neurofibromatosis. Patients with plexiform neurofibromas(PN), as one of the main manifestations of NF1, often experience pain, dysfunction, skeletal deformities, changes in appearance and other symptoms. In severe cases, compression of the airways and vital organs occurs, and the PN is at risk of malignancy progression. At present, its treatment is still challenging. Surgery is the primary treatment for PN, but complete resection is often difficult. In recent years, chemotherapy for PN has become a hot topic. This article reviews the research progress in the pathogenesis, diagnosis and treatment of PN in recent years.
Topics: Child; Genes, Neurofibromatosis 1; Humans; Mutation; Neurofibroma, Plexiform; Neurofibromatosis 1
PubMed: 35822370
DOI: 10.13201/j.issn.2096-7993.2022.06.015 -
Archivos Argentinos de Pediatria Jun 2018The appropraite surgical treatment to pediatric patients with ovarian lesions are heterogeneous and ovarian preservation is desirable in children. The aim of this study...
INTRODUCTION
The appropraite surgical treatment to pediatric patients with ovarian lesions are heterogeneous and ovarian preservation is desirable in children. The aim of this study is to the discuss findings related to a set of patients who were operated on for ovarian lesions.
PATIENTS AND METHODS
A retrospective study carried out in 13 years on 56 patients under the age of 17. These patients were divided into 3 groups according to ovarian pathologic diagnosis: 25 with functional (cyts and torsion), 18 with epithelial ovarian lesions and 13 with germ cell tumours. These three groups were compared in terms of menarche, torsion, age, duration, size, pain, mass, vomiting, irregular menstruation, location and operation type.
RESULTS
Follicle cysts, serous cyst adenomas and teratomas were the most common in these groups. The mean age of the patients was 12.18±4.84 years. The most common symptoms and signs were abdominal-pelvic pain (85.7%) and swelling(37.5%). Torsion was seen in 21 patients (37.5%), mean mass size was found to be 10.46±6.55 cm. A salpingo-oophorectomy (SO) was performed in 38 patients and cyst excision (CE) was performed in 18 patients. In premenarcheal cases, torsion was seen more in menarcheal cases and in the functional lesion group. CE was performed more often in the functional and t SO was performed often in the epithelial and germ cells groups.
CONCLUSION
Torsion and functional ovarian pathologies are thought to be common in premenstrual ages and malign lesions are very rare in all age groups so we recommend ovarian protective surgery should be preferred.
Topics: Abdominal Pain; Adolescent; Age Factors; Child; Child, Preschool; Female; Humans; Infant; Neoplasms, Germ Cell and Embryonal; Organ Preservation; Ovarian Cysts; Ovarian Diseases; Ovarian Neoplasms; Pelvic Pain; Retrospective Studies; Salpingo-oophorectomy; Torsion Abnormality
PubMed: 29756706
DOI: 10.5546/aap.2018.eng.e356