RESUMO
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.
RESUMO
Background: Fibromyalgia is a prevalent condition affecting 1-2% of the general population and can result in significant disability. Physicians and patients frequently encounter challenges in managing this condition. Aim: The aim of this study was to explore novel management approaches through a qualitative analysis of the doctor-patient relationship. Design and setting: Telephonic interviews were conducted with fibromyalgia patients to investigate their healthcare experiences. Methods: Qualitative analysis was performed on patients' narratives using interpretative phenomenological analysis, a methodology that delves into each individual's subjectivity. Results: A total of 19 adult patients with fibromyalgia, primarily middle-aged women (84% women, mean age 49.8 years), recruited from two university centers in Paris, were included in the study. The narratives of participants revealed substantial suffering and considerable functional impairment, which is paradoxical for a condition often considered benign. They reported an ongoing sense of loss of control, exacerbated by an imbalanced patient-doctor relationship. Patients constantly feared not being heard or believed, and they frequently sought attention from their caregivers. Most participants displayed significant ambivalence toward the nature of their condition and actively sought causal links. Patients' adaptive strategies sometimes worsened their symptoms, as in the case of muscular deconditioning. The healthcare system appeared deficient in managing these patients, characterized by a lack of health professional training, frequent inappropriate responses from healthcare providers, and stigmatization of psychological conditions. Conclusion: Despite its perceived benign nature, fibromyalgia should be regarded as a severe condition due to its substantial long-term consequences. Participants reported a challenging experience with the doctor-patient relationship, marked by a strong sense of dependence and a lack of recognition. The care pathway for these patients appeared unsuitable and disorderly, potentially resulting in iatrogenic consequences. The management of patients with fibromyalgia should be enhanced and directed toward a patient-centered approach. The study provides practical recommendations regarding communication methods and patient care.
RESUMO
OBJECTIVES: To describe primary Sjögren's disease (SjD) patients presenting no or low level of dryness and to compare them with SjD patients with oral or ocular dryness features. METHODS: All patients diagnosed with SjD according to AECG or ACR/EULAR criteria in our tertiary reference centre were included. Patients with high or low subjective symptoms or objective signs of dryness were compared. RESULTS: Overall, 509 patients were included for the comparison of patients with high (n=456) or low (n=53) level of subjective dryness and 472 for the comparison of patients with (n=359) or without (n=113) high objective dryness. Compared with patients with subjective dryness, patients without high subjective dryness were significantly younger (median 49 (39-62) years vs 58 (47-67) years, p<0.01), diagnosed earlier (median time from first symptoms to diagnosis 2 (0.5-4.5) years vs 4 (1-9.25), p=0.0056), more frequently anti-SSA positive ((83% vs 64%, p=0.008) and had less focal sialadenitis in minor salivary gland biopsy (69% vs 83%, p=0.02).The patients without high level of objective dryness (n=113) were also younger (51 (41-60) vs 58 (47-67) years, p<0.001) and were more frequently anti-SSA positive (79% vs 63%, p=0.002).In both groups, no difference was observed regarding disease activity. CONCLUSIONS: Among the patients with SjD, those without high subjective or objective dryness features had a younger profile, a faster diagnosis which may result from a more acute onset, were more frequently anti-SSA positive than patients with high dryness features.
Assuntos
Síndrome de Sjogren , Humanos , Síndrome de Sjogren/complicações , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/epidemiologia , BiópsiaRESUMO
OBJECTIVES: To assess the diagnosis of somatic symptom disorder (SSD) in patients with unexplained neurological symptoms occurring after SARS-CoV-2 infection, also referred to as long COVID. DESIGN: Single-centre observational study. PARTICIPANTS: Adult patients experiencing unexplained long-lasting neurological symptoms after mild COVID. Of the 58 consecutive patients referred in our centre, 50 were included. INTERVENTION: Patients were contacted for a standardised psychometric evaluation by phone, followed by a self-survey. MAIN OUTCOME: Positive diagnosis of SSD according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5). RESULTS: Although the patients did not meet the DSM-5 criteria for a functional neurological symptom disorder specifically, SSD diagnosis based on DSM-5 criteria was positive in 32 (64%) patients. In the remaining 18 patients, SSD was considered possible given the high score on diagnostic scales. Physical examination were normal for all. Brain MRI showed unspecific minor white matter hyperintensities in 8/46 patients. Neuropsychological assessment showed exclusively mild impairment of attention in 14 out of 15 tested patients, in discrepancy with their major subjective complaint. Forty-five (90%) patients met criteria for Chronic Fatigue Syndrome. Seventeen (32%) patients were screened positive for mood-anxiety disorders, 19 (38%) had a history of prior SSD and 27 (54%) reported past trauma. Additional self-survey highlighted post-traumatic stress disorder in 12/43 (28%), high levels of alexithymia traits and perfectionism. Long-lasting symptoms had a major impact with a high rate of insomnia (29/43, 67%), psychiatric follow-up (28/50, 56%) and work or pay loss (25/50, 50%). CONCLUSION: A majority of patients with unexplained long-lasting neurological symptoms after mild COVID met diagnostic criteria for SSD and may require specific management. TRIAL REGISTRATION NUMBER: NCT04889313.
RESUMO
We report the case of a 36-year-old woman who developed non-diabetic ketoacidosis following a low carbohydrate diet in order to lose weight while actively breast feeding her newborn. She was admitted in intensive care unit because of severe metabolic acidosis. She rapidly recovered after refeeding process. Lactation ketoacidosis, a special condition that occurs in non-diabetic breastfeeding women, is rare and life-threatening. This report highlights the importance of nutritional education of lactating women in the post-partum period.
Assuntos
Acidose , Cetose , Acidose/complicações , Adulto , Aleitamento Materno , Dieta com Restrição de Carboidratos , Feminino , Humanos , Recém-Nascido , Cetose/diagnóstico , Cetose/etiologia , LactaçãoRESUMO
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 MAIThi congenic strain that was then crossed to a transgenic Rorcgt-GFP reporter strain. Using this tool, we characterized polyclonal mouse MAITs as memory (CD44+) CD4-CD8lo/neg T cells with tissue-homing properties (CCR6+CCR7-). Similar to human MAITs, mouse MAITs expressed the cytokine receptors IL-7R, IL-18Rα, and IL-12Rß 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 MAIThi congenic strain allows phenotypic and functional characterization of naturally occurring mouse MAITs in health and disease.