Browse
Submit Data
Databases
API
Help

Dataset Information

26 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Atypical angiofibroma in a patient with compromised general health: A case report.

ABSTRACT:

Introduction

The nasopharyngeal angiofibroma (NA) is a benign tumor that originates from the pterygopalatine fossa and extends to the adjacent anatomical structures and affects frequently young individuals. The basic treatment for NA is surgical resection, but in some cases the tumor is surgically inaccessible.

Case presentation

We describe the case of a 45-year-old male with respiratory difficulty after the appearance of a soft palate lesion. The clinical appearance of NA was not specific.

Discussion

There are still discussions about the best therapeutic strategy and controversies about performing incisional biopsy. To our knowledge, this is the first report of a NA in an adult patient in which the general health conditions prevented the therapeutic approach, besides the extension of the lesion and its complications.

Conclusion

Our case shows that NA may reach high proportions and its involvement in older patients should be considered. In this report, we showed the limitation of the therapeutic strategy for advanced cases of NA.

SUBMITTER: Vasconcelos AC

PROVIDER: S-EPMC6172416 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Juvenile nasopharyngeal angiofibroma in a male of 16 years old. A case report.

Project description:We present a multisystemic approach involving diverse specialists of a rare disease. Bringing into the perspective the importance of multidisciplinary work and complete patient knowledge in order to an adequate clinical practice and patient outcome.

| S-EPMC7813098 | biostudies-literature

First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing.

Project description:Cellular angiofibroma is a rare benign mesenchymal neoplasm most commonly occurring in the vulvovaginal region in women and the inguinoscrotal region in men with specific genetic deletion involved in the RB1 gene in chromosome 13q14 region. Atypical cellular angiofibroma and cellular angiofibroma with sarcomatous transformation are recently described variants showing worrisome morphological features and strong, diffuse p16 expression. Nevertheless, the molecular profile of these tumor entities is largely unknown. We carried out a next generation sequencing (NGS) study from six cases of atypical cellular angiofibroma and cellular angiofibroma with sarcomatous transformation. We were able to identify oncogenic TP53 gene mutations (33%) which may contribute to pathogenesis also resulting in p16 overexpression. In addition, RB1 gene alterations generally present were identified. Since it is a recently described and rare entity, the whole molecular signaling pathway is still largely obscured and the analysis of larger cohorts is needed to elucidate this issue.

| S-EPMC7169459 | biostudies-literature

Atypical postoperative radiographical findings in a patient with moyamoya disease: A case report.

Project description:Moyamoya disease is a chronic cerebrovascular disease characterized by spontaneous and progressive stenosis or occlusion of the internal carotid artery and its branches. Revascularization procedures have been shown to improve cerebral hemodynamics and decrease the risk of strokes, but several postoperative complications are known to occur.A 14-year-old girl with moyamoya disease with a history of left-sided revascularization surgery underwent right-sided revascularization. On postoperative day 4, she experienced a transient neurological event (left hemiparesis). Magnetic resonance imaging revealed large cortical and subcortical hyperintense lesions in the middle cerebral artery territory on diffusion-weighted imaging and apparent diffusion coefficient imaging. Subsequently, the radiographic findings improved within several days with resolution of the symptoms. This case is a reminder that hemodynamic complications can develop subacutely in patients who have undergone successful revascularization for moyamoya disease. The radiological features and mechanisms of this rare condition associated with revascularization surgery for moyamoya disease are discussed.

| S-EPMC6374690 | biostudies-literature

Intra-articular angiofibroma of soft tissue of the knee: A case report.

Project description:Angiofibroma of soft tissue (AFST) is an extremely rare soft tissue neoplasm that typically presents as a slow-growing, painless mass in the extremities. The present study reports an unusual case of an intra-articular AFST occurring in the left knee of a 23-year-old female. Physical examination revealed a 3-cm, relatively mobile, elastic-hard, non-tender mass. Magnetic resonance imaging detected an intra-articular soft tissue mass with iso-signal intensity relative to skeletal muscle on T1-weighted sequences and heterogeneous high signal intensity on T2-weighted sequences. Contrast-enhanced fat-suppressed T1-weighted sequences demonstrated strong peripheral enhancement of the mass. An arthroscopic excision of the mass was performed. Histologically, the tumor was composed of spindle- or oval-shaped cells in a fibromyxoid stroma with a prominent vascular pattern. Immunohistochemically, the tumor cells were diffusely positive for vimentin and CD163 and focally positive for CD68, desmin and estrogen receptor. Based on these findings, the tumor was diagnosed as an AFST. The patient had no evidence of local recurrence within 9 months of follow-up. To the best of our knowledge, this is the first case of intra-articular AFST managed successfully with arthroscopic excision.

| S-EPMC5532633 | biostudies-other

Aspergillus case report

Project description:Aspergillary rhinopharyngitis in an equine patient

| PRJEB46193 | ENA

Case Report of Atypical Juxtaglomerular Cell Tumor.

Project description:Juxtaglomerular cell tumor (JGCT) is a rare renal tumor, producing renin and behaving almost in a benign fashion. So far, only three cases have been reported as malignant. We report a rare case with atypical JGCT. A 74-year-old male was referred to our hospital due to hypertension, proteinuria, and hematuria. Abdominal CT revealed a mass measured in 9.7×7.0 cm in the lower portion of the right kidney. Right kidney was removed laparoscopically. Grossly, white to tan tumor with massive hemorrhage and necrosis occupied the lower portion of the right kidney. Microscopically, tumor grew in a solid fashion. Tumor cells were polygonal to ovoid cells with round nuclei and clear to eosinophilic cytoplasm. Mitosis was found in 5 per 10 HPF. Immunohistochemically, tumor cells were stained by vimentin and CD34. Some tumor cells were also positive for renin. Electron micrograph showed near rhomboid crystalline structure in the tumor cells. Because of massive necrosis and mitotic figures, diagnosis of atypical (potentially malignant) JGCT was rendered. Gene mutations for IDH1, PIK3CA, K-ras, N-ras, Braf, and EGFR were not found by MBP-QP system.

| S-EPMC6220404 | biostudies-literature

Hypodiploidy in a pediatric patient of T-cell acute lymphoblastic leukemia: a case report

Project description:We report clinical and genetic findings of a 14-year-old male with T-cell acute lymphoblastic leukemia with low-hypodiploidy. The medical history included neck pain for a month, facial nerve palsy on the right side for 6 days, fever, drowsiness, and weakness for 3 days, vomiting, diarrhea for 1 day. The physical examination presented features of hypovolemia, palsy of the facial nerve on the right side, enlarged lymph nodes, hepatosplenomegaly, sore throat, and petechiae of the skin. Radiological images indicated lesions of different organs. Bone marrow biopsy confirmed precursor T-ALL. In the FISH tests, KMT2A and BCR/ABL1 rearrangements were not observed. GTG banding revealed 3 cell clones, which confirmed the hypodiploidy. Multiplex RT-qPCR was performed. STIL/TAL1 (del1p32) gene rearrangement was found in the blast cells. Additional tests were performed using the CytoScan HD microarray technique. Molecular karyotype did not reveal hypodiploidy, but identified other abnormalities such as duplication of chromosomal regions: 4q25q35.2, 6p23.3p11.1 and 8p23.3q24.21, and the loss of heterozygosity of short arm chromosome 9. In two regions of the chromosome biallelic deletions were found at 9p21.3, including the CDKN2A, CDKN2B, IFNA1, MTAP genes and at 10q23.31, containing PTEN. The child died 9 days after diagnosis. Bone marrow biopsy, GTG banding, FISH techniques, and molecular karyotyping were used to make an accurate diagnosis. This case documents a rapid progression of the disease and unfavorable results of T-cell acute lymphoblastic leukemia with hypodiploidy.

2021-06-16 | GSE178261 | GEO

Rehabilitation in atypical neurological disease: a case report.

Project description:The rehabilitative management of neurological diseases such as Parkinson's disease (PD) and multiple sclerosis (MS) is complex; drug treatment alone is generally insufficient. Multidisciplinary rehabilitation programs can fundamentally contribute to the management of neurological patients and have important positive repercussions on their quality of life. We describe the unusual case of a 70-year-old man with a diagnosis of both MS and PD, who presented with motor and cognitive impairments. He was admitted to our institute for a rehabilitation program. Motor, cognitive, and linguistic abilities were evaluated at admission and 60 days after the multidisciplinary rehabilitation, which included motor exercises, speech therapy, and cognitive interventions. The multidisciplinary rehabilitation improved the patient's functional status and exerted positive effects on his mood, autonomy in activities of daily life, perception of quality of life, cognitive performance, and speech skills. It is important to find new methods for treating neurological patients to better manage the social and economic implications of neurological disease, and to ensure a long course of treatment and rehabilitation.

| S-EPMC9247376 | biostudies-literature

Atypical presentation of nontuberculous mycobacterial pulmonary infection in a patient with interstitial lung abnormality: A case report.

Project description:Nontuberculous mycobacterial (NTM) infection is a common and important cause of chronic pulmonary disease, typically characterized by fibrocavitary and nodular-bronchiectatic forms on computed tomography (CT) of the chest. Structural lung disease and the host's immune status can affect NTM pulmonary infections. Herein, we report a rare case of an NTM pulmonary infection with multiple nodules and masses (with internal cavitation) in an immunocompetent patient exhibiting interstitial lung abnormality on a chest CT.

| S-EPMC8150260 | biostudies-literature

Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.

Project description:As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate receptor, whose number or composition changes can regulate the strength and plasticity of synapses. Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obvious behavior regression and psychiatric symptoms. It encodes GluA2, which is the crucial subunit of the AMPA receptor, and the missense variation is predicted to result in instability of the protein structure. The association between GRIA2 variants and onset of ASD symptoms is rare, and our study expands the spectrum of phenotypic variations. For patients with an unexplained etiology of ASD accompanied by psychiatric symptoms, genetic causes should be considered, and a complete genetic evaluation should be performed.

| S-EPMC9632133 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data