juvenile inflammatory rheumatism real life clinical practice strategies jir clips network methodology and the development process

Original title: “Juvenile Inflammatory Rheumatism Real-Life Clinical Practice Strategies (JIR-CliPS) network: methodology and the development process.”

This reflects challenges common ... clinical trials – issues that are particularly pronounced in rare cancers like DSRCT52. Nonetheless, we successfully acted on several findings, and the disease control rate of 62% in this heavily pretreated population indicates that a rational, biology-guided approach to this disease may confer meaningful clinical benefit. To further quantify therapeutic efficacy, ... This reflects challenges common to precision oncology programs, including limited off-label access to targeted agents and a scarcity of molecularly stratified clinical trials – issues that are particularly pronounced in rare cancers like DSRCT52. Nonetheless, we successfully acted on several findings, and the disease control rate of 62% in this heavily pretreated population indicates that a rational, biology-guided approach to this disease may confer meaningful clinical benefit. To further quantify therapeutic efficacy, we calculated the intra-patient PFSr, a widely used endpoint in precision oncology53. Desmoplastic small round cell tumor (DSRCT) is an ultra-rare sarcoma with limited treatment options. Here, we show that comprehensive molecular profiling informs diagnosis and individualized therapy in this disease. We report the results of whole-genome/exome, transcriptome, and DNA methylome analyses performed in 30 refractory DSRCT patients, complemented by (phospho)proteomic profiling in nine, within a nationwide precision oncology program. Desmoplastic small round cell tumor (DSRCT), a very rare and understudied sarcoma, presents serious challenges for both diagnosis and treatment. Here, the authors employ multi-omics profiling on 30 refractory DSRCT patients to improve the diagnosis and identify potentially actionable targets for individualized DSRCT treatment. The MTB provided four treatment recommendations based on increased target gene expression: (i) small-molecule inhibition of FGFR4, KDR, and MERTK, e.g., with pazopanib, (ii) participation in a clinical trial of CAR T cells against CLDN6 (NCT04503278), (iii) SSTR3-targeted PRRT, and (iv) ERBB2-directed therapy (Fig. 2b and Supplementary Dataset 2). Following the revised diagnosis, the patient was treated with pazopanib but showed disease progression after three months.

Original title: “Multi-layered molecular profiling informs the diagnosis and targeted therapy of desmoplastic small round cell tumor | Nature Communications”

characterization of rare genomic structural variants across 2 981 genomes reveals significant involvements in recessive conditions

Original title: “Characterization of rare genomic structural variants across 2,981 genomes reveals significant involvements in recessive conditions.”

right ventricular metastasis from rectal cancer recurrence

Original title: “Right Ventricular Metastasis From Rectal Cancer Recurrence.”

recurrent uncomplicated appendicitis in an adult reveals an underlying goblet cell adenocarcinoma a case report

Original title: “Recurrent uncomplicated appendicitis in an adult reveals an underlying goblet cell adenocarcinoma: a case report.”

cranial placode differentiation defect in individuals born without a nose

Original title: “Cranial placode differentiation defect in individuals born without a nose.”

update on the etiology and pathogenesis of erythrodermic psoriasis

Original title: “Update on the Etiology and Pathogenesis of Erythrodermic Psoriasis.”

implementation and outcomes of a standardized multidisciplinary treatment outpatient model in two pediatric tertiary hospitals

Original title: “Implementation and Outcomes of a Standardized Multidisciplinary Treatment Outpatient Model in Two Pediatric Tertiary Hospitals.”

inferior vena cava stenosis mimicking right heart failure in carcinoid heart disease

Original title: “Inferior Vena Cava Stenosis Mimicking Right Heart Failure in Carcinoid Heart Disease.”

NIH-supported clinical trial shows coordinated care strategy more effective than standard care

Original title: “Low-cost care model reduces blood pressure in high-risk populations ”

malaria 11 year experience with imported cases at a german university hospital and epidemiological trends amid the covid 19 pandemic

Original title: “Malaria: 11-Year Experience With Imported Cases at a German University Hospital and Epidemiological Trends Amid the COVID-19 Pandemic.”

role of ultrasonography in the detection of von voss cherstvoy syndrome a case report and review of literature

Original title: “The Role of Ultrasonography in the Detection of Von Voss-Cherstvoy Syndrome: A Case Report and Review of Literature.”

plantar verrucous carcinoma misdiagnosed as a recalcitrant wart diagnostic pitfalls and destructive local progression

Original title: “Plantar Verrucous Carcinoma Misdiagnosed as a Recalcitrant Wart: Diagnostic Pitfalls and Destructive Local Progression.”

rare primary adrenal malignancy manifesting as a hemorrhagic mass case report and literature review

Original title: “A Rare Primary Adrenal Malignancy Manifesting as a Hemorrhagic Mass: Case Report and Literature Review.”

stabilizing lysosome to facilitate verteporfin based anticancer photodynamic therapy via trehalose co assembled nanogel

Original title: “Stabilizing lysosome to facilitate verteporfin-based anticancer photodynamic therapy via trehalose co-assembled nanogel.”

crohn s disease complicated by undiagnosed hemophilia a a case of recurrent massive lower gastrointestinal bleeding

Original title: “Crohn's Disease Complicated by Undiagnosed Hemophilia A: A Case of Recurrent Massive Lower Gastrointestinal Bleeding.”

peroral endoscopic myotomy for epiphrenic diverticulum in a high risk patient with esophagogastric junction outlet obstruction

Original title: “Peroral Endoscopic Myotomy for Epiphrenic Diverticulum in a High-Risk Patient With Esophagogastric Junction Outlet Obstruction.”

herpes simplex virus 1 encephalitis in first trimester of pregnancy a case report

Original title: “Herpes Simplex Virus 1 Encephalitis in First Trimester of Pregnancy: A Case Report.”