[Telomeropathies: A study of 15 cases]. / Téloméropathies de recrutement hématologique : étude de 15 cas.

INTRODUCTION: Telomeres are composed of a repeated sequence of double-stranded nucleotides TTAGGG and numerous proteins including the Shelterin complex. Their main role is to maintain the stability of the genome during cell replication through a mechanism of copying the repeted sequence by the telomerase complexe. All the diseases involving a deregulation of this complex are now grouped together under the term telomeropathies. They are difficult to diagnose and manage. Our objective was to describe the clinico-biological characteristics and treatments used, in patients affected by telomeropathies previously seen by an hematologist followed at the Lille University Hospital Center. METHODS: This is a retrospective, single-center study carried out within the department of internal medicine-clinical immunology, Reference center for rare autoimmune and systemic diseases at Lille University Hospital Center between 2005 and 2020 including all patients followed for telomeropathy. RESULTS: Probands and relatives were included. Fifteen patients were studied from 10 independant families. Sixty percent had an heterozygous TERC gene mutation. Sixty seven percent had haematological diseases including macrocytosis, anemia and/or thrombocytopenia, 20 % had a fibrotic hepatic disease, 27 % had a fibrotic pulmonary disease. Lymphocyte immunophenotyping showed a double negative T lymphocyte population with γδ TCR expression in 5 (33 %) patients. Forty-seven percent of the patients had not received any treatment. Twenty-seven percent were on androgen therapy. Twenty percent had received cyclosporine and 13 % anti-lymphocyte serum in the context of initial misdiagnosis. CONCLUSION: It is important to be aware of the complexity of telomeropathies, a differential diagnosis of immune aplastic anemia, in order to optimize management and avoid inappropriate treatments. Allografting of hematopoietic stem cells is the only potentially curative treatment. Our analysis found particularities in immunophenotyping lymphocyte not previously described to our knowledge, whose physiopathological imputability remains to be demonstrated.

[Anti-tumor immunotherapy in malignant pleural mesothelioma]. / Immunothérapie anti-tumorale dans le mésothéliome pleural malin.

INTRODUCTION: Malignant pleural mesothelioma (MPM) is a quite rare cancer, but with increasing incidence, that is usually induced by previous asbestos exposure. Its prognosis is poor and there is no validated curative therapy to date. Surgery of MPM, done only by few expert teams within a multimodal treatment is of limited and still disputed value. The standard treatment of MPM, relying on first-line chemotherapy by combined cisplatin-pemetrexed is often poorly effective, even if combination with bevacizumab anti-VEGF antibodies has slightly improved the results. Moreover, no second line treatment is recommended in case of failure of this chemotherapy. Therefore, the search of new therapies or strategies is crucial and the recruitment of patients in clinical trials is highly encouraged. BACKGROUND: Among the treatments under investigation, various anti-tumour immunotherapies, in particular immune checkpoints inhibitors (ICI), currently exhibit the most promising preliminary results. First data from the phase II, randomized "IFCT MAPS-2", recently presented during the 2017 ASCO meeting, confirmed the value of ICI in MPM patients in cases of chemotherapy failure. OUTLOOK AND CONCLUSIONS: However, several exciting immunotherapies other than ICI are presently being evaluated in MPM and are reported in this article. Moreover, many questions still need to be answered about immunotherapy: what is its potential value as first line treatment? How to target the best candidates for these treatments? Which combinations between immunotherapy and standard chemotherapy, targeted therapies, surgery or radiotherapy? Finally, it is now essential that every clinician has sufficient knowledge about the possible toxicities of immunotherapy.

[Effects of an educational program in non-adherent apneic patients treated with continuous positive airway pressure]. / Éducation thérapeutique de patients apnéiques inobservants sous pression positive continue.

INTRODUCTION: Obstructive Sleep Apnea (OSA) is a chronic, frequent pathology impacting patients' quality of life. Continuous positive airways pressure (CPAP) is the most effective treatment, but is often considered binding and thus poorly observed. The aim of this study was to assess the impact of an educational program in non-adherent patients with OSA, to identify the factors of inobservance and to determine risk groups. PATIENTS AND METHODS: We enrolled 21 patients presenting OSA in this monocentric, forward-looking study. Nineteen patients completed the study. The inclusion criterion was a daily observance less than 4 hours a night. Educational program was realized by a specialized, trained team, with the authorization of the Regional Agency of Health. RESULTS: Our population consisted of 15 male and six female, all of them obese, with a medium age of 57.7 ± 12.9 years, treated for 10,7 ± 15 months. All of our patients had few symptoms. After the educational program, two groups were individualized according to their observance. Fifty-two percent of patients became compliant to CPAP treatment. Demographic data and medical histories did not differ between these two groups: nine patients remained inobservant (medium daily treatment duration of 57 ± 49 minutes); ten patients became observant (medium daily treatment duration raising from 104 ± 70 minutes to 322 ± 65 minutes, P=0.0002). Among these ten patients, seven were considered as having accepted their disease at initial educational diagnosis. CONCLUSION: The educational program improved adherence to CPAP treatment in 52% of our patients. All included patients had few symptoms. This could raise the issue of a poorer perception of treatment efficacy in less symptomatic patients. Disease acceptance also appeared linked to CPAP treatment compliance.