scholarly journals Metastatic pheochromocytoma and paraganglioma: signs and symptoms related to catecholamine secretion

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Minghao Li ◽  
Christina Pamporaki ◽  
Stephanie M. J. Fliedner ◽  
Henri J. L. M. Timmers ◽  
Svenja Nölting ◽  
...  
Keyword(s):  
Urinary Excretion ◽  
Clinical Data ◽  
Future Development ◽  
Signs And Symptoms ◽  
Lower Proportion ◽  
Initial Presentation ◽  
Metastatic Tumors ◽  
Cumulative Score ◽  
Biochemical Diagnosis ◽  
High Urinary Excretion

Abstract Background The presence or future development of metastatic pheochromocytomas or paragangliomas (mPPGLs) can be difficult to diagnose or predict at initial presentation. Since production of catecholamines from mPPGLs is different from non-metastatic tumors (non-mPPGLs), this study aimed to clarify whether presenting catecholamine-related signs and symptoms (cSS) might also differ. Methods The study included 249 patients, 43 with mPPGL and 206 with non-mPPGL. Clinical data at the time of biochemical diagnosis (i.e. at entry into the study) were used to generate a cumulative score of cSS for each patient. Results Patients with mPPGL were significantly younger (43.3 ± 14 vs. 48.9 ± 16.1 years) and included a lower proportion of females (39.5% vs. 60.7%) than patients with non-mPPGLs. Frequencies of signs and symptoms did not differ between the two groups. Patients with mPPGLs had lower (P < 0.001) urinary excretion of epinephrine (3.5 (IQR, 1.9—6.5) µg/day) than those with non-mPPGLs (19.1 (IQR, 4.3—70.2) µg/day). There was no difference in urinary excretion of norepinephrine. In patients with mPPGLs a high cSS score was associated with high urinary excretion of norepinephrine and normetanephrine. In contrast, in patients with non-mPPGLs, a high cSS was associated with high urinary excretion of epinephrine and metanephrine. Conclusion Although presenting signs and symptoms were associated with production of norepinephrine in patients with mPPGLs and of epinephrine in patients with non-mPPGLs, there were no differences in signs and symptoms between the two groups. Therefore, consideration of signs and symptoms does not appear helpful for distinguishing patients with and without mPPGLs.

scholarly journals Opportunities and Challenges for Analyzing Cancer Data at the Inter- and Intra-Institutional Levels

2020 ◽  
pp. 743-756
Author(s):  
Julie Wu ◽  
Jordan Bryan ◽  
Samuel M. Rubinstein ◽  
Lucy Wang ◽  
Michele Lenoue-Newton ◽  
...  
Keyword(s):  
Clinical Data ◽  
Information Exchange ◽  
Cancer Center ◽  
Bipartite Network ◽  
Genotypic Differences ◽  
Cancer Type ◽  
Sample Type ◽  
Metastatic Tumors ◽  
Institutional Level ◽  
Cancer Data

PURPOSE Our goal was to identify the opportunities and challenges in analyzing data from the American Association of Cancer Research Project Genomics Evidence Neoplasia Information Exchange (GENIE), a multi-institutional database derived from clinically driven genomic testing, at both the inter- and the intra-institutional level. Inter-institutionally, we identified genotypic differences between primary and metastatic tumors across the 3 most represented cancers in GENIE. Intra-institutionally, we analyzed the clinical characteristics of the Vanderbilt-Ingram Cancer Center (VICC) subset of GENIE to inform the interpretation of GENIE as a whole. METHODS We performed overall cohort matching on the basis of age, ethnicity, and sex of 13,208 patients stratified by cancer type (breast, colon, or lung) and sample site (primary or metastatic). We then determined whether detected variants, at the gene level, were associated with primary or metastatic tumors. We extracted clinical data for the VICC subset from VICC’s clinical data warehouse. Treatment exposures were mapped to a 13-class schema derived from the HemOnc ontology. RESULTS Across 756 genes, there were significant differences in all cancer types. In breast cancer, ESR1 variants were over-represented in metastatic samples (odds ratio, 5.91; q < 10−6). TP53 mutations were over-represented in metastatic samples across all cancers. VICC had a significantly different cancer type distribution than that of GENIE but patients were well matched with respect to age, sex, and sample type. Treatment data from VICC was used for a bipartite network analysis, demonstrating clusters with a mix of histologies and others being more histology specific. CONCLUSION This article demonstrates the feasibility of deriving meaningful insights from GENIE at the inter- and intra-institutional level and illuminates the opportunities and challenges of the data GENIE contains. The results should help guide future development of GENIE, with the goal of fully realizing its potential for accelerating precision medicine.

scholarly journals A Retrospective Analysis of Crayfish-Related Rhabdomyolysis (Haff Disease)

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Changbao Huang ◽  
Liangfei Peng ◽  
Nengkai Gong ◽  
Cheng Xue ◽  
Weihua Wang ◽  
...  
Keyword(s):  
Clinical Data ◽  
Disease Onset ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Unknown Etiology ◽  
Chest Tightness ◽  
Presenting Symptoms ◽  
Clinical Signs And Symptoms ◽  
Haff Disease ◽  
Peak Value

Objective. To investigate the epidemiologic and etiologic factors, clinical features, therapeutic regimen, and prognosis of crayfish-related rhabdomyolysis (Haff disease). Methods. Retrospectively analyzed the clinical data of 29 patients with crayfish-related rhabdomyolysis (Haff disease) from July to August 2016, summarized the clinical characteristics, and evaluated the prognosis. Results. Clinical data of a total of 29 cases of Haff disease were retrospectively analyzed. The disease onset occurred after consumption of cooked crayfish with the incubation period ranging from 1 h to 48 h. There were no gender differences and significantly elevated CK in the duration with peak value of 41575.0U/L; the median value was 2445.0U/L (range: from 1187.0 U/L to 4722.0 U/L) and there was coincident elevated CK-MB. There was also no hepatorenal damage and transient urinalysis was abnormal. The most common presenting symptoms were myalgia (100%), weakness and numbness (51.7%), chest tightness and chest pain (41.4%), back pain (41.4%), and extremities pain (37.9%). All the patients recovered and no patients died. Conclusions. Crayfish-related rhabdomyolysis (Haff disease) is a kind of a case or cluster of patients present with severe myalgia or weakness of unknown etiology and mechanism disease; however, the clinical signs and symptoms are relatively mild with favorable outcome.

scholarly journals Paraganglioma Presenting as Cholesterol Granuloma of the Petrous Apex

2013 ◽  
Vol 92 (9) ◽  
pp. 430-434
Author(s):  
Selena E. Heman-Ackah ◽  
Tina C. Huang
Keyword(s):  
Hearing Loss ◽  
Signs And Symptoms ◽  
Initial Presentation ◽  
Petrous Apex ◽  
Cholesterol Granuloma ◽  
Pulsatile Tinnitus ◽  
Glomus Jugulare Tumor ◽  
Glomus Jugulare ◽  
Potential Association

We report the unique finding of a petrous apex cholesterol granuloma associated with a paraganglioma, also known as a glomus jugulare tumor, in a 52-year-old woman who presented to our department with pulsatile tinnitus, hearing loss, aural fullness, and disequilibrium. She had been treated for a petrous apex cholesterol granuloma 20 years earlier, at which time she had undergone drainage of the granuloma via subtotal petrous apicectomy. When she came to our facility approximately 20 years later, she had signs and symptoms consistent with a jugular paraganglioma, which was likely to have been present at the time of her initial presentation for the cholesterol granuloma. In fact, microscopic bleeding from the paraganglioma might have led to the formation of the cholesterol granuloma. The metachronous presentation of these two entities, which to our knowledge has not been reported previously in the literature, indicates the potential association of paragangliomas with the formation of cholesterol granulomas of the petrous apex.

scholarly journals Signs and Symptoms of Acoustic Neuroma at Initial Presentation: An Exploratory Analysis

Cureus ◽  
2017 ◽  
Author(s):  
Robert W Foley ◽  
Shahram Shirazi ◽  
Robert M Maweni ◽  
Kay Walsh ◽  
Rory McConn Walsh ◽  
...  
Keyword(s):  
Acoustic Neuroma ◽  
Signs And Symptoms ◽  
Exploratory Analysis ◽  
Initial Presentation

scholarly journals Presentation and treatment of carotid cavernous aneurysms

2008 ◽  
Vol 66 (2a) ◽  
pp. 189-193 ◽  
Author(s):  
Lucas Perez de Vasconcellos ◽  
Juan Antônio Castro Flores ◽  
José Carlos Esteves Veiga ◽  
Mário Luiz Marques Conti ◽  
Pedro Shiozawa
Keyword(s):  
Clinical Features ◽  
Internal Carotid ◽  
Signs And Symptoms ◽  
Initial Presentation ◽  
Neurological Deficits ◽  
Neurovascular Compression ◽  
Neurological Signs ◽  
Neurological Prognosis ◽  
Pain Symptoms ◽  
Carotid Aneurysms

We analyzed a group of patients with the diagnosis of internal carotid aneurysms in its intracavernous segment, with emphasis in prevalence, clinical features, treatments, evolution and neurological prognosis. Neurological signs and symptoms at initial presentation were registered and compared with final outcome. Patients were divided into two stratified groups, one with 19 patients which underwent interventionist treatment, and another with 21 patients who were conservatively treated. The present study demonstrated that intervention is significantly correlated with a better prognosis considering evolution of pain symptoms secondary to neurovascular compression (p=0,002). Regarding neurological deficits, an interventionist approach was also significantly correlated with better outcome in comparison with initial presentation (p=0,008). These results indicate that interventionist treatment determines improvement or resolution of pain symptoms in comparison with patients conservatively treated, as well as stabilization or partial improvement of neuro-ophthalmological deficits.

scholarly journals Signs and Symptoms of Central Nervous System Involvement and Their Pathogenesis in COVID-19 According to The Clinical Data (Review)

2021 ◽  
Vol 17 (3) ◽  
pp. 65-77
Author(s):  
N. V. Tsygan ◽  
A. P. Trashkov ◽  
A. V. Ryabtsev ◽  
V. A. Yakovleva ◽  
A. L. Konevega ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Data ◽  
Nervous Tissue ◽  
Central Nervous System Involvement ◽  
Signs And Symptoms ◽  
Neurological Manifestations ◽  
Altered Level ◽  
System Involvement ◽  
The Central Nervous System

Detailed clinical assessment of the central nervous system involvement in SARS-CoV-2 infection is relevant due to the low specificity of neurological manifestations, the complexity of evaluation of patient complaints, reduced awareness of the existing spectrum of neurological manifestations of COVID-19, as well as low yield of the neurological imaging.The aim. To reveal the patterns of central nervous system involvement in COVID-19 and its pathogenesis based on clinical data.Among more than 200 primary literature sources from various databases (Scopus, Web of Science, RSCI, etc.), 80 sources were selected for evaluation, of them 72 were published in the recent years (2016-2020). The criteria for exclusion of sources were low relevance and outdated information.The clinical manifestations of central nervous system involvement in COVID-19 include smell (5-98% of cases) and taste disorders (6-89%), dysphonia (28%), dysphagia (19%), consciousness disorders (3-53%), headache (0-70%), dizziness (0-20%), and, in less than 3% of cases, visual impairment, hearing impairment, ataxia, seizures, stroke. Analysis of the literature data revealed the following significant mechanisms of the effects of highly contagious coronaviruses (including SARS-CoV-2) on the central nervous system: neurodegeneration (including cytokine- induced); cerebral thrombosis and thromboembolism; damage to the neurovascular unit; immune-mediated damage of nervous tissue, resulting in infection and allergy-induced demyelination.The neurological signs and symptoms seen in COVID-19 such as headache, dizziness, impaired smell and taste, altered level of consciousness, bulbar disorders (dysphagia, dysphonia) have been examined. Accordingly, we discussed the possible routes of SARS-CoV-2 entry into the central nervous system and the mechanisms of nervous tissue damage.Based on the literature analysis, a high frequency and variability of central nervous system manifestations of COVID-19 were revealed, and an important role of vascular brain damage and neurodegeneration in the pathogenesis of COVID-19 was highlighted.

scholarly journals Kawasaki Shock Syndrome with Initial Presentation as Neck lymphadenitis: A Case Report

Children ◽  
2022 ◽  
Vol 9 (1) ◽  
pp. 56
Author(s):  
Yi-Ting Cheng ◽  
Yu-Shin Lee ◽  
Jainn-Jim Lin ◽  
Hung-Tao Chung ◽  
Yhu-Chering Huang ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Early Recognition ◽  
Systemic Vasculitis ◽  
Pediatric Population ◽  
Signs And Symptoms ◽  
Initial Presentation ◽  
Small Subset ◽  
Cervical Lymphadenitis ◽  
Initial Manifestation ◽  
Delay In Diagnosis

Kawasaki disease (KD) is an acute systemic vasculitis of unknown cause that mainly affects infants and children and can result in coronary artery complications if left untreated. A small subset of KD patients with fever and cervical lymphadenitis has been reported as node-first-presenting KD (NFKD). This type of KD commonly affects the older pediatric population with a more intense inflammatory process. Considering its unusual initial presentation, a delay in diagnosis and treatment increases the risk of coronary artery complications. Herein, we report the case of a 9-year-old female with fever and neck mass that rapidly deteriorated to shock status. A diagnosis of KD was made after the signs and symptoms fulfilled the principal diagnostic criteria. The patient’s heart failure and blood pressure improved dramatically after a single dose of intravenous immunoglobulin. This case reminds us that NFKD could be the initial manifestation of KDSS, which is a potentially fatal condition. We review the literature to identify the overlapping characteristics of NFKD and KDSS, and to highlight the importance of early recognition of atypical KD regardless of age. We conclude that unusually high C-reactive protein, neutrophilia, and thrombocytopenia serve as supplemental laboratory indicators for early identification of KDSS in patients with NFKD.

scholarly journals Melanotic neuroectodermal tumor of infancy: Report of a case associated with high urinary excretion of Vanilmandelic acid

2011 ◽  
Vol 2 (4) ◽  
pp. 337 ◽  
Author(s):  
Kunal Sah ◽  
Alka Kale ◽  
Ajit Kadam ◽  
Hetul Shah ◽  
Sunira Chandra ◽  
...  
Keyword(s):  
Urinary Excretion ◽  
Neuroectodermal Tumor ◽  
High Urinary Excretion ◽  
Vanilmandelic Acid

Can radiomics combined with clinical data predict checkpoint inhibitor pneumonitis?

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e14555-e14555
Author(s):  
Christopher Montoya ◽  
Benjamin Spieler ◽  
Alan Dal Pra ◽  
Tejan Diwanji ◽  
Raphael Yechieli ◽  
...  
Keyword(s):  
Clinical Data ◽  
Clinical Symptoms ◽  
Checkpoint Inhibitor ◽  
Smoking Status ◽  
Performance Status ◽  
Laboratory Data ◽  
Signs And Symptoms ◽  
Receiver Operating Curve ◽  
Significant Morbidity ◽  
Radiographic Findings

e14555 Background: Immunotherapy (ImT) is increasingly utilized in patients with advanced non-small cell lung cancer (aNSCLC). Checkpoint-inhibitor pneumonitis (CIP) is an uncommon and potentially life-threatening adverse event (AE) associated with ImT. For patients with aNSCLC, CIP signs and symptoms can be misclassified in the setting of underlying lung disease and incidence may be underreported. The ability to identify patients at risk for CIP prior to ImT could prevent significant morbidity. Previously, we reported that radiomics, a datamining technique that extracts patterns from medical imaging, had identified texture features on pre-ImT CT that correlate with CIP. In this study, we hypothesized that such features combined with clinical data can predict CIP. Methods: In an IRB-approved database of 129 patients with aNSCLC treated with nivolumab, 9 controls were identified with clinical diagnosis of CIP. For all patients, uninvolved lung in the last pre-ImT CT was mined for textures associated with CIP. In the 9 controls, 3 features were identified that correlated with CIP. Imaging and patient charts were reviewed for signs and symptoms of CIP within the first 6 months after ImT administration. Non-controls with progressive clinical symptoms or radiographic findings consistent with CIP and unexplained by disease progression, infection or other medical interventions were treated as CIP-positives. Lastly, the area under the receiver operating curve (AUC) for predicting CIP was built progressively combining uncorrelated laboratory, imaging, and clinical data. Results: In all, 25 patients (19%) were identified with any-grade CIP. A model based on pre-ImT platelets (PLT) and neutrophil-to-lymphocyte ratio (NLR) had an AUC for predicting CIP of 0.648. The radiomics features associated with CIP were average gray value (p = .002), 3D normalized entropy (p = 0.022), and kurtosis (p = 0.011). When combined these 3 features had an AUC of 0.735. Combining both radiomics and laboratory data produced an AUC of 0.779. This increased to 0.793 with the addition of ECOG performance status and sex. Finally, incorporating smoking status yielded an AUC of 0.802. Paired sample difference in AUC between the final model and that including only PLT and NLR was significant (p = 0.003). Conclusions: In patients with aNSCLC treated with ImT, CIP is an uncommon but potentially serious AE. The ability to identify patients at higher risk for CIP could prevent significant morbidity. A model combining radiomics of pre-ImT imaging, laboratory, and clinical data showed better prediction for CIP than laboratory data alone. Future directions include validation of this model on an external cohort and with patients on different ImT regimens.

High urinary excretion of N-(pyrrole-2-carboxyl) glycine in type II hyperprolinemia

2008 ◽  
Vol 37 (6) ◽  
pp. 485-489 ◽  
Author(s):  
Moacir Wajner ◽  
Clóvis M. D. Wannmacher ◽  
Paul Purkiss
Keyword(s):  
Urinary Excretion ◽  
Type Ii ◽  
High Urinary Excretion
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