Annales de biologie clinique最新文献

Monocytes, circulating mononuclear phagocytes, play a fundamental role in innate immunity and the maintenance of tissue homeostasis. Using advanced technologies like flow cytometry, the characterization of monocytes has evolved from a simplistic view of a homogeneous population to a more complex understanding of a heterogeneous system comprising three main subtypes: classical monocytes (CD14++CD16-), intermediate monocytes (CD14++CD16+), and non-classical monocytes (CD14+CD16++). The identification of these subpopulations has enabled precise characterization of their functional profiles, enhancing the understanding of their roles in various pathological contexts, particularly in oncology. While anti-tumoral functions of monocytes have been clearly established in certain categories of cancers through tumor antigen presentation, induction of cytotoxic responses, and inhibition of metastatic progression, their role in promoting the development and progression of other cancers has also been highlighted during recent years. The utilization of monocytes in cancer immunotherapy presents promising opportunities, particularly by reprogramming their activity to enhance anti-tumoral responses or suppress their pro-tumoral functions. This review provides a comprehensive analysis of recent advances in the phenotypic and functional diversity of monocytes and their role in tumor progression, while highlighting emerging therapeutic strategies targeting these cells to optimize cancer treatment.

An 18-months old boy was seen in a clinical genetics consultation with both his parents for a global developmental delay, hypotonia, post-natal microcephaly, as well as cognitive impairment including an absence of language acquisition. High throughput exome sequencing identified a pathogenic variant in the UBE3A gene that was inherited from his asymptomatic mother. This variant causes the child to lose the contribution of the maternal allele, through loss of UBE3A genetic expression. UBE3A is localized into a genomic imprinting region which undergoes transcriptional regulation based on parental origin, an epigenetic phenomenon described in certain specific regions of the human genome. Its expression is repressed on the paternal chromosome at locus 15q11-13. The truncating variant on the maternal allele then leads to a complete loss of UBE3A expression. This results in Angelman syndrome. Angelman syndrome is a genetic neurodevelopmental disorder whose transmission mode depends on the causative molecular mechanism, which consists of a lack of contribution from the maternal 15q11-q13 region. Angelman's phenotype and evolution varies according to causative molecular mechanism. Precise laboratory diagnosis is especially important for genetic counselling: in our patient's family, the recurrence risk amounts to 50 % in the event of a future pregnancy, and the family's relatives must me informed and offered medical counsel.

Pre-analytical management of samples in hemostasis is essential for the correct assessment of parameters. Although there is extensive literature on this subject, the Working Group of the French Society of Thrombosis and Hemostasis deemed it necessary to conduct a review of the literature and propose recommendations for the stability of samples before hemostasis assays. These recommendations are based on a literature review of publications from 1997 to 2024, initially analyzed by a working group of 6 experts and then reviewed by 13 other biologists. The various conditions are summarized in tables that will assist hemostasis laboratories in managing samples and -transporting specimens. Furthermore, since some conditions clearly have not been the subject of evaluation, this review opens new fields of investigation.

Neonatal respiratory distress syndrome (NRDS) is caused by a deficiency of alveolar surface-active substances. The aim of this study was to investigate the value of miR-363 combined with arterial blood gas analysis parameters and lung ultrasound (LUS) score for diagnosis and prognostic assessment in NRDS. In this study, 104 neonates with NRDS and 76 healthy were included as subjects. RT-qPCR was used to detect the serum miR-363 expression. Neonatal artery blood was collected for arterial blood gas analysis and LUS score was performed on neonates. ROC curves were performed to analyze the diagnostic and prognostic predictive efficacy of single and combined indicators. Independent risk factors for development of NRDS and poor prognosis in neonates were analyzed by logistic analysis. Association of miR-363 with analysis indicators was assessed by Pearson correlation analysis. miR-363 expression was significantly lower in NRDS neonates than in healthy newborns. Compared to the healthy group, NRDS neonates had lower pH, PaO2, HCO3-, and BE levels, and higher PaCO2 levels and LUS scores, and the same trend was observed for the tests in the poor prognosis group. ROC curves indicated that the diagnostic efficacy of combined indicators was higher than that of single indicators. Logistic analysis showed that miR-363 was a risk factor for the development and poor prognosis of NRDS. Pearson correlation analysis suggested that miR-363 was positively correlated with pH, PaO2, HCO3-, and BE levels, and negatively correlated with PaCO2 levels and LUS scores. Serum miR-363 in combination with arterial blood gas analysis parameters and LUS scores may serve as a tool for diagnostic and prognostic risk assessment of NRDS, providing guidance for optimizing clinical strategies.

The importance of HbA1c in the therapeutic monitoring of diabetic patients requires the use of robust and efficient assay methods, especially for point-of-care testing. This study evaluates the analytical performances of the Siemens Healthineers Atellica® DCA. After analyzing linearity and precision, the results were compared with those of the DCA Vantage (Siemens) and the Capillarys 3 Tera (Sebia, capillary electrophoresis). The main interferences (triglycerides and bilirubin) and the effect of total hemoglobin concentration were also assessed. The tests showed a good linearity over a range of 4.5 to 14 % HbA1c, and good precision with coefficients of variation ranging from 1.42 to 2.33 %. The correlation with capillary electrophoresis and the Atellica® DCA was excellent (r² = 0.991 and r² = 0.994, respectively). The accuracy of the results, assessed with external quality samples, was also satisfactory. The method is not sensitive to interference of hypertriglyceridemia up to 10 mmol/L or hyperbilirubinemia (up to 432 μmol/L), and provides reliable results even for low concentrations of total hemoglobin (down to 57,5 g/L). The Atellica® DCA also offers improved ergonomics, with a user-friendly touchscreen and can be connected to the laboratory's management software. this analyzer presents analytical performances suitable for use as point-of-care testing analyzer.

Parasitological examination of stools is a challenging analysis due to the diversity of parasites to be screened for, depending on the exposure context and patient background. Parasite detection is traditionally performed using direct wet mount and various concentration methods followed by microscopic reading, which requires expertise. The quotation of this analysis in the nomenclature of medical biology procedures has become obsolete due to the development of molecular biology techniques and epidemiological changes. Currently commercialized nucleic acid detection techniques, often in multiplex panels, should not be used without an understanding of their limitations in terms of the relevance of the panel of parasites detected and technical performance. These recommendations aim to guide biologists and COFRAC auditors regarding the implementation of parasitological examination of stools, the choice of techniques and their limitations, for optimal medical care.

Over the past two decades, the brain-gut axis has received increasing scholarly attention. However, few bibliometric analyses have systematically examined this area. We aimed to visualize the current status of research in this field, summarize hotspots, and present trends through a bibliometric analysis of published publications related to the brain-intestinal axis. Publications about the brain-gut axis were selected from the Web of Science Core Database (WoSCC) database. Countries/regions, institutions, authors, journals, references, and keywords in this field were visually analyzed using VOSviewer and CiteSpace software. A total of 3320 publications were eventually retrieved from 2000 to 2021. Publications on the brain-gut axis have increased year by year, especially in the last decade. The United States was the most prolific country (943, 28.404%), while Ireland was the country with the highest average number of article citations (156.03). Before 2011, most studies focused on the brain-gut axis, with irritable bowel syndrome being the most studied disorder; whereas in the last decade, most studies focused on the gut-brain axis, especially the microbial gut-brain axis, with neurodegenerative disorders being the most studied. In terms of global trends, research on the brain-gut axis is booming. Moreover, the role and therapeutic applications of the microbial-gut-brain axis in the progression of central nervous system (CNS) diseases, especially neurodegenerative diseases, are the focus of current research and future research trends.

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare T-cell non-Hodgkin lymphoma, representing less than 1% of breast neoplasms. Despite its low incidence, the increasing number of women with breast implants necessitates vigilance among clinicians and pathologists. BIA-ALCL presents in situ and invasive forms, with varying prognoses. The National Comprehensive Cancer Network guidelines recommend cytology, immunohistochemistry, and flow cytometry (FCM) for diagnosis. This retrospective study analyzed 16 periprosthetic fluid (PF) samples from suspected lymphoma cases between January 2018 and January 2024. Cytological and immunological analyses were performed using May Grünwald-Giemsa staining, and FCM with BD FACSCanto II and BD LYRIC cytometers. A 10 or 12-colour FCM panel including pan-T markers and CD30 was used. Of the 16 samples, 2 cases were diagnosed with BIA-ALCL. BIA-ALCL cases showed atypical CD4+ T-cells with large size and loss of CD3 and CD7. In contrast, the 14 reactive cases did not exhibit atypical cells. Key challenges included sample volume limitations, cell dilution, and distinguishing neoplastic cells from reactive ones, particularly in cases with low cell counts. FCM, combined with an extensive panel of pan-T markers and CD30, effectively differentiates anaplastic BIA-ALCL cells from reactive seroma. However, it should complement, not replace, traditional diagnostic methods. Recognizing pitfalls and correlating FCM findings with clinical and morphological data enhances diagnostic accuracy. FCM is a valuable tool for diagnosing BIA-ALCL but should be used alongside other methods. Accurate diagnosis depends on understanding sample-specific challenges and integrating FCM results with clinical context.