Molecular Characterization of Inflammatory Tumors Facilitates Initiation of Effective Therapy

PEDIATRICS ◽  
2021 ◽  
Author(s):  
Franziska Wachter ◽  
Alyaa Al-Ibraheemi ◽  
Maria C. Trissal ◽  
Monica Hollowell ◽  
Steven G. DuBois ◽  
...  

Inflammatory myofibroblastic tumor (IMT) is a rare, mesenchymal tumor that has an increased incidence in childhood. Tumors are usually isolated to the chest, abdomen, and retroperitoneum, but metastatic presentations can be seen. Presenting symptoms are nonspecific and include fever, weight loss, pain, shortness of breath, and cough. Approximately 85% of IMTs harbor actionable kinase fusions. The diagnosis can be delayed because of overlapping features with inflammatory disorders, such as elevated inflammatory markers, increased immunoglobin G levels, fever, weight loss, and morphologic similarity with nonmalignant conditions. We present a girl aged 11 years with a TFG-ROS1 fusion–positive tumor of the lung that was initially diagnosed as an immunoglobin G4–related inflammatory pseudotumor. She underwent complete left-sided pneumonectomy and later recurred with widely metastatic disease. We then report the case of a boy aged 9 years with widely metastatic TFG-ROS1 fusion–positive IMT with rapid molecular diagnosis. In both children, there was an excellent response to oral targeted therapy. These cases reveal that rapid molecular testing of inflammatory tumors is not only important for diagnosis but also reveals therapeutic opportunities. Targeted inhibitors produce significant radiologic responses, enabling potentially curative treatment approaches for metastatic ROS1 fusion IMT with previously limited treatment options. Primary care pediatricians and pediatric subspecialists have a crucial role in the early consultation of a pediatric oncology center experienced in molecular diagnostics to facilitate a comprehensive evaluation for children with inflammatory tumors.

2021 ◽  
Vol 2 (3) ◽  
pp. 241-254
Author(s):  
Pasquale Pisapia ◽  
Francesco Pepe ◽  
Antonino Iaccarino ◽  
Roberta Sgariglia ◽  
Mariantonia Nacchio ◽  
...  

Lung cancer is the leading cause of cancer death worldwide. Despite the emergence of highly effective targeted therapies, up to 30% of advanced stage non-small cell lung cancer (NSCLC) patients do not undergo tissue molecular testing because of scarce tissue availability. Liquid biopsy, on the other hand, offers these patients a valuable opportunity to receive the best treatment options in a timely manner. Indeed, besides being much faster and less invasive than conventional tissue-based analysis, it can also yield specific information about the genetic make-up and evolution of patients’ tumors. However, several issues, including lack of standardized protocols for sample collection, processing, and interpretation, still need to be addressed before liquid biopsy can be fully incorporated into routine oncology practice. Here, we reviewed the most important challenges hindering the implementation of liquid biopsy in oncology practice, as well as the great advantages of this approach for the treatment of NSCLC patients.


2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Laura Ruiz-Ripa ◽  
Carmen Simón ◽  
Sara Ceballos ◽  
Carmelo Ortega ◽  
Myriam Zarazaga ◽  
...  

Abstract Background Staphylococcus pseudintermedius (SP) and Staphylococcus aureus (SA) are common colonizers of companion animals, but they are also considered opportunistic pathogens, causing diseases of diverse severity. This study focused on the identification and characterization of 33 coagulase-positive staphylococci isolated from diseased pets (28 dogs and five cats) during 2009–2011 in a veterinary hospital in Spain in order to stablish the circulating lineages and their antimicrobial resistance profile. Results Twenty-eight isolates were identified as SP and five as SA. Nine methicillin-resistant (MR) isolates (27%) carrying the mecA gene were detected (eight MRSP and one MRSA). The 55% of SP and SA isolates were multidrug-resistant (MDR). MRSP strains were typed as ST71-agrIII-SCCmecII/III-(PFGE) A (n=5), ST68-agrIV-SCCmecV-B1/B2 (n=2), and ST258-agrII-SCCmecIV-C (n=1). SP isolates showed resistance to the following antimicrobials [percentage of resistant isolates/resistance genes]: penicillin [82/blaZ], oxacillin [29/mecA] erythromycin/clindamycin [43/erm(B)], aminoglycosides [18–46/aacA-aphD, aphA3, aadE], tetracycline [71/tet(M), tet(K)], ciprofloxacin [29], chloramphenicol [29/catpC221], and trimethoprim-sulfamethoxazole [50/dfrG, dfrK]. The dfrK gene was revealed as part of the radC-integrated Tn559 in two SP isolates. Virulence genes detected among SP isolates were as follow [percentage of isolates]: siet [100], se-int [100], lukS/F-I [100], seccanine [7], and expB [7]. The single MRSA-mecA detected was typed as t011-ST398/CC398-agrI-SCCmecV and was MDR. The methicillin-susceptible SA isolates were typed as t045-ST5/CC5 (n=2), t10576-ST1660 (n=1), and t005-ST22/CC22 (n=1); the t005-ST22 feline isolate was PVL-positive and the two t045-ST45 isolates were ascribed to Immune Evasion Cluster (IEC) type F. Moreover, the t10576-ST1660 isolate, of potential equine origin, harbored the lukPQ and scneq genes. According to animal clinical history and data records, several strains seem to have been acquired from different sources of the hospital environment, while some SA strains appeared to have a human origin. Conclusions The frequent detection of MR and MDR isolates among clinical SP and SA strains with noticeable virulence traits is of veterinary concern, implying limited treatment options available. This is the first description of MRSA-ST398 and MRSP-ST68 in pets in Spain, as well the first report of the dfrK-carrying Tn559 in SP. This evidences that current transmissible lineages with mobilizable resistomes have been circulating as causative agents of infections among pets for years.


2019 ◽  
Vol 3 (2) ◽  
Author(s):  
Emma Dures ◽  
Clive Bowen ◽  
Mel Brooke ◽  
Jane Lord ◽  
William Tillett ◽  
...  

Abstract Objectives PsA is an inflammatory condition that can cause pain, fatigue, swelling and joint stiffness. The consequences include impaired physical function, a high psychosocial burden, reduced quality of life and work disability. The presenting symptoms can be non-specific and varied, leading to delays in diagnosis or referral to specialist teams. The aim of this study was to explore patients' experiences of being diagnosed and the initial management of PsA. Methods The study used a qualitative design, with data collected in one-to-one, face-to-face semi-structured interviews. Results Fifteen newly diagnosed patients (<24 months) from three hospital sites in the southwest of England participated. Interviews were transcribed, anonymized and analysed using inductive thematic analysis. The following two main themes with sub-themes represent the data: symptom onset to specialist care: ‘it was the blind leading the blind’ (making sense of symptoms; mis-diagnosis and missed opportunities; and fast and easy access to expertise); and diagnosis as a turning point: ‘having somebody say you've got something wrong with you, I was euphoric’ (validation and reassurance; weighing up treatment options; taking on self-management; and acknowledging loss and change). Conclusion Participants were already dealing with functional limitations and were highly distressed and anxious by the time they received their diagnosis. Physical and mental outcomes could be improved by the implementation of existing psoriasis management guidelines and strategies for earlier referral from primary care to rheumatology and by the development of guidelines on educational, self-management and psychological support provision soon after diagnosis.


PLoS ONE ◽  
2016 ◽  
Vol 11 (2) ◽  
pp. e0149564 ◽  
Author(s):  
Sandrine Louis ◽  
Rewati-Mukund Tappu ◽  
Antje Damms-Machado ◽  
Daniel H. Huson ◽  
Stephan C. Bischoff

2016 ◽  
Author(s):  
Inna Leybell ◽  
Liliya Abrukin

Bradyarrhythmias can present as an incidental electrocardiographic (ECG) finding or a life-threatening condition requiring immediate intervention. They are caused by sinus node disease or atrioventricular block. This review covers pathophysiology, stabilization and assessment, diagnosis and treatment options, and disposition and outcomes for patients with bradycardia. Figures in the review demonstrate characteristic ECG tracings. Tables list classifications of sinus node dysfunction as well as of sinoatrial and atrioventricular blocks, presenting symptoms, important information to elicit on history taking, various causes of bradycardia, and specific interventions for toxicologic etiologies. Key words: atrioventricular block, atropine, bradyarrhythmia, bradycardia, first-degree atrioventricular block, second-degree atrioventricular block, sinoatrial block, sinus bradycardia, sinus node disease, tachycardia-bradycardia syndrome, third-degree atrioventricular block This review contains 9 highly rendered figures, 7 tables, and 92 references.


Author(s):  
W.M.H. Sayeed ◽  
E. Batuyong ◽  
J.C. Easaw ◽  
M. Pitz ◽  
J.J.P. Kelly

For decades, debate has persisted regarding the role of surgical resection in newly diagnosed glioblastoma. There is increasing evidence that extent of resection (EoR) is an independent prognostic factor. Previous work has proposed the inclusion of EoR in a risk stratification algorithm but does not incorporate account recent advances in the molecular characterization of tumours. We set out to investigate the effect of EoR on overall survival (OS), and to develop a stratification algorithm incorporating both EoR and modern molecular markers for prognostication. HYPOTHESIS: Greater EoR is independently associated with improved OS. METHODS: We examined 190 consecutive cases of histopathologically confirmed newly-diagnosed glioblastoma who were operated upon between January 1, 2012 and December 31, 2014. Variables including age, sex, postal code, KPS, tumour location, presenting symptoms, treatment history, date of progression, date of reoperation, as well as MGMT, IDH, 1p/19q codeletion, and ATRX status were recorded. Preoperative and postoperative MRIs were reviewed and volumetric tumour burden will be analyzed and EoR will be calculated. RESULTS: Preliminary EoR calculations (n=18) show a positive correlation between EoR and OS. CONCLUSION: A correlation exists between EoR and OS, although multivariable analysis is planned to exclude potential confounders. MRI review, chart review including molecular marker analysis and EoR calculations are ongoing.


2020 ◽  
pp. 1-3
Author(s):  
George Oosthuizen ◽  
George Oosthuizen

Wilkie’s syndrome, or superior mesenteric artery syndrome, is a rare condition of duodenal obstruction caused by compression of the superior mesenteric artery on the third part of the duodenum. The diagnosis should be considered in a patient who has experienced significant weight loss and now presents with persistent vomiting, especially if the vomiting occurs with the patient in the supine position and is alleviated by the lateral or prone position. The diagnosis can be confirmed by imaging studies demonstrating compression of the third part of the duodenum, and the main aim of treatment should be to pass a feeding tube beyond the point of obstruction to allow enteral feeding. The condition improves spontaneously with weight gain. Further treatment options include parenteral feeding and operative bypass in select cases. Here we present a case of Wilkie’s syndrome in a trauma patient with significant weight loss, together with a review of the literature on this interesting topic.


2010 ◽  
Vol 8 (1) ◽  
pp. 1-10
Author(s):  
ARINDA KARINA RACHMAWATI ◽  
R. BASKORO KATRI ANANDITO ◽  
GODRAS JATI MANUHARA

Rachmawati AK, Anandito RBK, Manuhara GJ. 2010. Extraction and characterization of pectin on green cincau (Premna oblongifolia) in edible film production. Biofarmasi 8: 1-10. The use of green cincau pectin was presumed to influence the result of edible film characteristics, i.e. thickness, solvability, elongation, tensile strength, and water vapour transmission (WVTR). The aims in this research were: (i) to find out the chemical characteristics of green cincau pectin on the physical (thickness and solvability) and mechanical properties (elongation and tensile strength), (ii) to determine the edible film inhibition of green cincau pectin against the water vapour transmission rate, and (iii) to find out the edible film capability in inhibiting the weight loss on green grape by wrapping and coating method. The five major steps in this research were material preparation (making green cincau powder and pectin extraction), the characterization of extraction result pectin, making edible film, edible film characterization, and edible film application. This research used a completely randomized design with twice replications in edible film making for each treatment concentration and twice replication for edible film characteristic testing in each edible film making replication. Variance analysis was used to analyze data, if there was a significant difference, it will be continued with a Duncan Multiple Range Test at a significance level of 0.05. The yield of green cincau powder and pectin were 27.5% and 15.2%, respectively. The extraction result pectin consisted of 5.09% water, 11.06% protein, 0.35% fat, 28.5% ash, 55.00% carbohydrate (by different), and 12.15% crude fiber. The increasing of pectin concentration tends to increase the thickness and tensile strength, but reduced the water vapour transmission rate. The lowest water vapour transmission rate occurred at the edible film with 30% pectin concentration. Its water vapour transmission rate was 0.317 g.mm/m2.hour. The green grape weight loss with a wrapping method was 0.0212 g/hour, and the green grape weight loss with a coating method was 0.0634 g/hour.


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