Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.

Physical Activity Attenuates Brain Irradiation-Associated Skeletal Muscle Damage in the Rat.

Purpose: Radiation therapy for brain tumors increases patient survival. Nonetheless, side effects are increasingly reported such as cognitive deficits and fatigue. The etiology of fatigue remains poorly described.

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.

Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and immune deficiencies. DOCK8 and DOCK11 activate CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, among many cellular functions.

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children is generally milder than in adults, but a proportion of cases result in hyperinflammatory conditions often including myocarditis.

Methods: To better understand these cases, we applied a multiparametric approach to the study of blood cells of 56 children hospitalized with suspicion of SARS-CoV-2 infection. Plasma cytokine and chemokine levels and blood cellular composition were measured, alongside gene expression at the bulk and single-cell levels.

Acellular therapeutic approach for heart failure: in vitro production of extracellular vesicles from human cardiovascular progenitors.

Aims: We have shown that extracellular vesicles (EVs) secreted by embryonic stem cell-derived cardiovascular progenitor cells (Pg) recapitulate the therapeutic effects of their parent cells in a mouse model of chronic heart failure (CHF). Our objectives are to investigate whether EV released by more readily available cell sources are therapeutic, whether their effectiveness is influenced by the differentiation state of the secreting cell, and through which mechanisms they act.

Methods And Results: The total EV secreted by human induced pluripotent stem cell-derived cardiovascular progenitors (iPSC-Pg) and human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) were isolated by ultracentrifugation and characterized by Nanoparticle Tracking Analysis, western blot, and cryo-electron microscopy.

IFN-λ3 polymorphism indirectly influences NK cell phenotype and function during acute HCV infection.

Introduction: Polymorphisms in the type III interferon IFN-λ3 and the killer cell immunoglobulin-like receptor (KIR) genes controlling the activity of natural killer (NK) cells can predict spontaneous resolution of acute hepatitis C virus (HCV) infection. We hypothesized that IFN-λ3 polymorphism may modulate NK cell function during acute HCV.

Methods: We monitored the plasma levels of type III IFNs in relation to the phenotype and the function of NK cells in a cohort of people who inject drugs (PWID) during acute HCV infection with different outcomes.

Hyperparathyroidism in octogenarians: A plea for ambulatory minimally invasive surgery under local anesthesia.

Background: With the current aging of the world's population, diagnosis of primary hyperparathyroidism is being reported in increasingly older patients, with the associated functional symptomatology exacerbating the vicissitudes of age. This retrospective study was designed to establish functional improvements in older patients following parathyroid adenomectomy under local anesthesia as outpatient surgery.

Materials And Methods: Data were collected from 53 patients aged 80 years or older who underwent a minimally invasive parathyroid adenomectomy.

[Dosimetric comparaison between VMAT and tomotherapy with para-aortic irradiation for cervix carcinoma].

Purpose: Intensity-modulated radiotherapy (IMRT) has proven its dosimetric superiority over conformational radiotherapy for cervix cancers in terms of digestive toxicity. Volumetric modulated arctherapy (VMAT) has shown its dosimetric interest when compared to IMRT with static beams. The purpose of our study was to compare conformational radiotherapy, VMAT and tomotherapy for cervical cancers with para-aortic lymph nodes irradiation.

Lobular carcinoma in situ (LCIS) of the breast: is long-term outcome similar to ductal carcinoma in situ (DCIS)? Analysis of 200 cases.

Background: Lobular carcinomas in situ (LCIS) represent 1-2% of all breast cancers. Both significance and treatment remain widely debated, as well as the possible similarities with DCIS.

Materials And Methods: Two hundred patients with pure LCIS were retrospectively analyzed in seven centres from 1990 to 2008.

PIK3CA Pathway Mutations Predictive of Poor Response Following Standard Radiochemotherapy ± Cetuximab in Cervical Cancer Patients.

Purpose: EGFR is frequently overexpressed in cervical cancer, suggesting EGFR blockade as a promising treatment approach. Cetuximab, an anti EGFR antibody, used conjointly with radiochemotherapy, was feasible in first-line treatment of cervix carcinoma limited to the pelvis.

Experimental Design: This randomized phase II trial enrolled 78 FIGO stage IB2-IIIB cervical cancer patients to either cisplatin-based radiochemotherapy alone (arm B, n = 38) or conjointly with a 6-week course of weekly cetuximab (arm A, n = 40).

[End of the commercialisation of (192)Ir wires in France: proposals of the groupe de Curiethérapie de la SFRO].

In 2014, the production of iridium 192 wires in France ended. Thus brachytherapy departments had to move to high-dose rate and pulsed-dose rate afterloading techniques. Most of them had already made this migration for some indications, based on the habits and investments.

[Safety and efficacy of whole breast irradiation with a concomitant boost: analysis of 121 cases treated at the Institute of Cancerology of Lorraine].

Purpose: To evaluate the safety and efficacy of whole breast irradiation with a concomitant boost.

Patients And Materials: This is a retrospective study of 121 patients with node negative T1-T2 breast tumors inferior to 3 cm in diameter, previously treated by conservative surgery without chemotherapy. A dose of 50 Gy was delivered to the whole breast in 2 Gy daily fractions with 5 weekly treatments.

[Dosimetric comparison between the intensity modulated radiotherapy with fixed field and Rapid Arc of cervix cancer].

Purpose: Concurrent radiochemotherapy is the standard treatment for locally advanced cervical cancer. This treatment is responsible for bowel and hematologic toxicities. The use of intensity-modulated radiotherapy (IMRT), in static beams, allows a decrease of this toxicity.

[High dose rate vaginal brachytherapy in endometrial cancer after surgery].

Purpose: This study aimed at analyzing the evolution and type of recurrence in patients treated for stage I endometrial carcinomas, in order to define the respective roles of adjuvant radiotherapy and brachytherapy.

Patients And Methods: This monocentric retrospective study was conducted at Centre Alexis-Vautrin, Nancy, France, between January 1995 and December 2000 on all the patients surgically treated for an endometrial cancer, and then treated with high dose rate vaginal brachytherapy. The brachytherapy was delivered in two or three fractions of 7 Gy at 5 mm from the applicator.

Human platelets produced in nonobese diabetic/severe combined immunodeficient (NOD/SCID) mice upon transplantation of human cord blood CD34(+) cells are functionally active in an ex vivo flow model of thrombosis.

Xenotransplantation systems have been used with increasing success to better understand human hematopoiesis and thrombopoiesis. In this study, we demonstrate that production of human platelets in nonobese diabetic/severe combined immunodeficient mice after transplantation of unexpanded cord-blood CD34(+) cells was detected within 10 days after transplantation, with the number of circulating human platelets peaking at 2 weeks (up to 87 x 10(3)/microL). This rapid human platelet production was followed by a second wave of platelet formation 5 weeks after transplantation, with a population of 5% still detected after 8 weeks, attesting for long-term engraftment.

[Quality control in pulsed dose rate brachytherapy].

A prospective multicenter study (PDR) was leaded on pulsed dose rate brachytherapy over 2 years (2005/2006) in 20 French centres, as part of a programme entitled Stic-PDR and supported by the French ministry of health. Eight hundred and fifty patients were treated for cervix carcinoma with 2D classic or 3D innovative brachytherapy (425 in each arm). The main objectives of this study were to assess the cost of PDR brachytherapy with dose optimization compared to traditional treatments, and to evaluate the complications and local control.

Human ApoA-I transfer attenuates transplant arteriosclerosis via enhanced incorporation of bone marrow-derived endothelial progenitor cells.

Objective: Transplant arteriosclerosis is the leading cause of graft failure and death in patients with heart transplantation. Endothelial progenitor cells (EPCs) contribute to endothelial regeneration in allografts. We investigated whether increased HDL cholesterol induced by adenoviral human apoA-I (AdA-I) transfer increases number and function of EPCs, promotes incorporation of EPCs in Balb/c allografts transplanted paratopically in C57BL/6 ApoE-/- mice, and attenuates transplant arteriosclerosis.

[High fetal irradiation: about one pregnant woman receiving infradiaphragmatic radiotherapy for Hodgkin lymphoma].

We report the case of a 19-year-old young woman for whom was discovered a pregnancy at the end of the irradiation for a Hodgkin lymphoma (stage IV bone Bb), initially treated by chemotherapy. The radiotherapy delivered 36 Gy in infra-diaphragmatic volumes (lombo-aortic, spleen, L5), beginning in a pregnant patient for less than 4 amenorrhea weeks. The calculated received fetal dose (literature data, measurement with software TPS, measurement on phantom) is high: it's between 2.

[Anemia impact on treatments of cervical carcinomas].

During the treatments of carcinomas of the cervix, anemia is relatively frequent and its origin is complex combining often hemorrhage, iron deprivation, inflammatory reactions and infection. The frequency of the primary anemia (hemoglobin level<12 g/dl) is correlated with clinical stage and varies from one publication to another, mainly from 25% for stage I, to 33% for stage II and can approach 40% for stage III. Anemia is correlated with patient survival and it appears to be one of the most powerful prognostic factor after clinical stage and tumor size.

[Preoperative brachytherapy for clinical stage I and II endometrial carcinoma: results from a series of 780 patients with a 10-year follow-up].

Aims Of The Study: Retrospective analysis of patients treated by preoperative brachytherapy for endometrial carcinoma.

Patients And Methods: From 1973 to 1994, 780 consecutive patients with a clinical stage I-II endometrial carcinoma were treated with brachytherapy followed by surgery and pelvic irradiation if necessary. Tumour was staged according to 1979 UICC classification.