Search

Langerhans cell histiocytosis (LCH) is a rare disease with limited treatment options. We present a case involving a 57-year-old woman afflicted with an isolated LCH bone osteolytic lesion. A single bisphosphonate infusion significantly alleviated pain, and follow-up scans via CT, PET-CT, and MRI revealed a substantial recalcification of the lesion. Conducting an extensive literature review, we identified 46 cases documenting the efficacy of bisphosphonates in the context of LCH. These findings have raised interest in bisphosphonate infusion as a simple therapeutic alternative in similar situations, with benefits in terms of bone recalcification and pain control for individuals with LCH. [ABSTRACT FROM AUTHOR]

Introduction Mucosal-associated invariant T cells (MAITs) express an invariant TCR-α (iTCR-α) chain (iVα7.2-Jα33 in human and iVα19-Jα33 in mouse) restricted by the major histocompatibility complex (MHC) class I-related protein 1 [...], Mucosal-associated invariant T cells (MAITs) have potent antimicrobial activity and are abundant in humans (5%-10% in blood). Despite strong evolutionary conservation of the invariant TCR-α chain and restricting molecule MR1, this population is rare in laboratory mouse strains (≅ 0.1% in lymphoid organs), and lack of an appropriate mouse model has hampered the study of MAIT biology. Herein, we show that MAITs are 20 times more frequent in clean wild-derived inbred CAST/EiJ mice than in C57BL/6J mice. Increased MAIT frequency was linked to one CAST genetic trait that mapped to the TCR-α locus and led to higher usage of the distal Vα segments, including Vα19. We generated a [MAIT.sup.hi] congenic strain that was then crossed to a transgenic Rorcgt-GFP reporter strain. Using this tool, we characterized polyclonal mouse MAITs as memory ([CD44.sup.+]) [CD4.sup.-][CD8.sup.lo/neg] T cells with tissue-homing properties ([CCR6.sup.+][CCR7.sup.-]). Similar to human MAITs, mouse MAITs expressed the cytokine receptors IL-7R, IL-18Rα, and IL-12Rβ and the transcription factors promyelocytic leukemia zinc finger (PLZF) and RAR-related orphan receptor γ (RORγt). Mouse MAITs produced Th1/2/17 cytokines upon TCR stimulation and recognized a bacterial compound in an MR1-dependent manner. During experimental urinary tract infection, MAITs migrated to the bladder and decreased bacterial load. Our study demonstrates that the [MAIT.sup.hi] congenic strain allows phenotypic and functional characterization of naturally occurring mouse MAITs in health and disease.

Objective: This study aimed to assess the impact of Sjögren disease (SjD) on the quality of sexual life and its determinants using the Qualisex questionnaire., Methods: The Qualisex questionnaire was administered to participants within the ASSESS cohort, a French national multicentric prospective cohort of individuals with SjD. Patients' characteristics and psychometric evaluations were also collected., Results: Among the 395 patients of the cohort, 92 (23%) completed the questionnaire, with a median age of 56 (44-59) years and a female ratio of 92% (85/92). The median Qualisex score was 3.4 (1.1-5.9).Comparing the first and last quartiles of the Qualisex score, a worst sexual satisfaction was associated with older age (median (IQR) 58 (52-65) vs 52 (41-56) years, p=0.005), higher EULAR Sjögren's disease Patient Reported Index (ESSPRI) (6.8 (5.7-7.7) vs 4.3 (2.8-5.3), p<0.0001) lower SF-36 mental and physical scores (respectively, 43 (38-46) vs 49 (47-53), p=0.0035 and 31 (29-35) vs 35 (30-37), p=0.035), higher Depression and Anxiety scores (HADS) (respectively, 9 (7-11) vs 2 (1-4), p<0.0001 and 11 (8-14) vs 7 (4-10), p=0.006). Interestingly, EULAR Sjögren's disease Disease Activity Index (ESSDAI) score did not differ significantly (4 (1-10) vs 2.5 (1.8-4), p=0.35). In a multivariable analysis, the Qualisex score remained strongly associated with a higher HADS depression score and, to a lesser extent, with a higher ESSPRI. The inability to obtain a score was associated with older age., Conclusion: In SjD patients, sexual satisfaction assessed with the Qualisex score, was strongly associated with depression and, to lesser extent, with ESSPRI, but not with systemic activity., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Susac syndrome (SuS) is a rare immune-mediated microangiopathy with potential disabling evolution. We aimed to analyze brain microstructural damage through diffusion tensor imaging (DTI) in SuS and determine its association with poor outcomes., Method: CarESS study is a prospective multicenter national cohort study of patients with SuS. Patients included at the principal investigator's center with at least two available brain magnetic resonance imaging (MRI) with DTI were analyzed. Mean diffusivity (MD) and fractional anisotropy (FA) were measured in fibers crossing three regions of interest (ROIs): the corpus callosum as a whole, the genu of the corpus callosum, and the splenium of the corpus callosum. The primary outcome was work resumption., Results: Twenty-two patients (36 (25;42) years, 16 (73%) females) were studied. The triad (i.e., brain, eye, and ear involvement) was complete in 21 (95%) patients. All but one patients received steroids alone or in combination with immunosuppressive drugs (n = 11) and/or IVIg (n = 7). Over a median follow-up of 6 (5;8) years, 15 (68%) patients went back to work. FA and MD were longitudinally measured in 123 DTI MRI accounting for a median of 5.6 [4.2; 7] MRI per patient. Microstructural damages in the corpus callosum as a whole, the genu of the corpus callosum, and the splenium of the corpus callosum increased during follow-up and were significantly associated with the inability to return to work., Conclusion: Brain DTI identified microstructural damage in fibers crossing the corpus callosum that are associated with long-term disability in SuS., Trial Registration: ClinicalTrials.gov portal identifier: NCT01481662 (https://clinicaltrials.gov/ct2/show/NCT01481662?term=caress&draw=2&rank=5)., (© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)