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Aim Methods Results Conclusion Cerebral venous thrombosis (CVT) is a rare complication of ear, nose and throat (ENT) infections. Although recent guidelines recommend the systematic use of anti‐coagulation therapy (ACT) in the treatment of these CVT, literature data are scarce. The present study's objective was to determine the value of ACT in achieving recanalisation after thrombosis and its effect on patient outcomes.All paediatric patients with CVT and a concomitant ENT infection who attended Lille University Hospital (Lille, France) between January 2012 and December 2021 were retrospectively included.We included 43 children (63% boys), with a mean age of 4 years. The most frequent infection was mastoiditis (54%). ACT was initiated in 23 patients (53%), one of whom had an intracranial haemorrhage. Partial or full recanalisation was observed in 33 (80%) of the 41 survivors. In patients with no neurological signs and symptoms on admission and in patients with mastoiditis‐related CVT, the clinical and radiological outcomes were favourable and did not differ according to the administration of ACT. Likewise, ACT did not appear to influence the recanalisation rate or sequelae.ACT was not necessary for all patients with mastoiditis‐related CVT and those with no neurological signs and symptoms on admission. [ABSTRACT FROM AUTHOR]

This article discusses a study conducted to assess the quality of life (QoL) of siblings of adolescents with severe haemophilia. The study found that the QoL of these siblings was not significantly different from that of the affected adolescents, and it was actually higher than that of the age- and sex-matched French general population. The study also identified several determinants of QoL, including age, gender, anxiety symptoms, coping strategies, prosocial behavior, and emotional intelligence. The findings suggest that siblings of individuals with haemophilia generally have good QoL, but there is a need to address potential psychological distress and behavioral problems. The study was conducted with the participation of various medical professionals, researchers, and representatives from the French Association for People with Hemophilia. The data used in the study was provided by the FranceCoag registry. The study was funded by grants from Bayer Consumer Care AG and the University Hospital of Marseille. The authors declare no conflicts of interest. The data from the study is not publicly available due to privacy and ethical restrictions. The study was approved by the Ethical Research Committees and conducted in accordance with applicable privacy requirements and ethical principles. [Extracted from the article]

Summary: This FranceCoag network study assessed 33 patients with congenital factor XIII (FXIII) deficiency presenting FXIII levels <10 iu/dl. Diagnosis was based on abnormal bleeding in 29 patients, a positive family history in 2, recurrent miscarriages in 1 and was fortuitous in 1. Eighteen patients (62·1%) presented life‐threatening umbilical or intracranial haemorrhages (ICH). Seven of the 15 patients who experienced ICH were diagnosed but untreated, including 3 with secondary neurological sequelae. All pregnancies without prophylaxis (26/26) led to miscarriages versus 3/16 with prophylaxis. In patients exhibiting FXIII levels <10 iu/dl, prophylaxis could be discussed at diagnosis and at pregnancy. Further controlled prospective studies are needed. [ABSTRACT FROM AUTHOR]

Overcoming the drug resistance remains a crucial issue in cancer treatment. For refractory patients, the use of MET receptor tyrosine kinase inhibitors seems to be hopeful. Indeed, important mechanisms underlying drug resistance argue for association of MET inhibitors with targeted therapies, both on first-line to prevent a primary resistance and on the second line to overcoming acquired resistance. Indeed, met gene amplification is the second most common alteration involved in acquired resistance to anti-epidermal growth factor receptor (EGFR) therapies in non-small cells lung cancer (NSCLC). Hypoxia, for its part, can activate MET transcription and amplifies HGF signaling resulting in MET activation, which could be involved in vascular endothelial growth factor (VEGF) inhibitors escape. In HER2 positive breast cancers, MET amplification may also induce tumor cells a hatch escape, resulting in secondary resistance. Finally, some patients with BRAF mutated melanoma exhibit primary resistance to BRAF inhibition by stromal HGF (ligand of MET) secretion resulting in MET receptor activation. Experimental data highlight the role of MET in primary and secondary resistance and encourage combined treatments including MET inhibitors. In this context, several promising clinical trials are in progress in numerous cancers (NSCLC, melanoma, breast cancer, glioblastoma…) using combination of anti-MET and other specific therapies targeting EGFR, BRAF, VEGF or HER2. This review summarizes the potential benefits that MET inhibition should provide to patients with cancer refractory to targeted therapies., (Copyright © 2016 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24. Somatic COL2A1 mutations have been identified in chondrosarcoma, a rare cartilage forming neoplasm, with a hypermutability of the gene reported in 37% of cases. However, to the best of our knowledge, there is no reported increase in predisposition to chondrosarcoma in human collagenopathies, and no reported clinical association between these congenital diseases and cartilaginous tumors. In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. We also describe a new constitutive mutation in COL2A1., (© 2015 Wiley Periodicals, Inc.)