Annales de biologie clinique最新文献

Large Language Models (LLMs), such as ChatGPT, Gemini, and Copilot, are generating growing interest for their ability to produce accessible medical responses. In hematology, a discipline focused on the interpretation of complex test results, these tools could potentially assist both patients and healthcare professionals. However, their performance, inherent biases, and impact on user perception remain poorly evaluated. A panel of 62 hematology-related questions, sourced from medical examinations or frequently asked by patients in clinical laboratories, was submitted to nine publicly available AI tools. The answers were independently assessed by two medical biologists using a 100-point scoring system (accuracy, clarity, relevance, tone). Additionally, a perception survey was conducted among 300 patients. The performance of the AI tools varied significantly, with scores ranging from 19 to 67 out of 100. OpenAI models showed clear improvement across versions, demonstrating a better ability to contextualize answers and to avoid extreme or inappropriate tones. However, clinical biases and hallucinations were still observed. Among patients familiar with LLM-based tools, two-thirds reported being willing to use them to interpret their biological test results. Despite their educational potential and accessibility, these AI tools exhibit notable limitations: lack of references, out-of-context responses, and optimism or alarmist biases. Autonomous use of these models carries risks, emphasizing the need for medical supervision and dedicated training for healthcare professionals. These tools should be considered as complementary aids, not substitutes, to medical biological reasoning.

Among the tools necessary for the diagnosis of primary hyperaldosteronism, catheterization of the adrenal veins represents the major examination to determine the presence of lateralized aldosterone secretion. To ensure that the catheter is well positioned at the level of the adrenal veins, a cortisol dosage is carried out in parallel with the aldosterone dosage. At the Hormonology and Tumor Markers laboratory of the Bordeaux University Hospital, this cortisol assay is carried out on an Abbott Architect i2000, making it possible to extend the calibration range up to > 3,300 nmol/L. Beyond that, the supplier recommends carrying out a manual dilution using calibrator A in which the cortisol concentration is equal to 0 nmol/L. The downside is that this calibrator cannot be supplied alone. It is only available in a common box with the 5 other calibrators necessary to carry out the cortisol calibration range. To overcome this expensive strategy, we studied the use of another diluent: 0.9% NaCl. Samples from 11 CVS were diluted with 0.9% NaCl and a comparison of cortisol results was performed (n = 128). Passing-Bablok regression of cortisol concentrations did not show significant deviation from linearity. The interpretation of CVS selectivity was not impacted by the change of diluent nor the interpretation of secretion lateralization. This change of diluent therefore did not modify the appropriate medical decision: medicinal treatment in the case of the identification of a bilateral secretion or proposal for surgical intervention in the case of the identification of a lateralized secretion.

Cyberattacks on healthcare organizations have escalated globally, resulting in serious risks to patient care and safety. Clinical laboratories, relying heavily on data-intensive systems, are particularly vulnerable to disruptions when hospital information systems are compromised. We conducted a single-center retrospective case study of a major cyberattack affecting the laboratory services at Notre Dame des Secours-UH in Lebanon. Operational data, incident reports, and recovery timelines were reviewed to characterize the attack's impact on laboratory operations and the resilience measures implemented. The cyberattack led to an immediate shutdown of laboratory information systems and automation, necessitating a shift to paper-based and manual processes. Key emergency protocols were activated within hours, including manual test ordering, handwritten result transcription with double verification, and specialized staff-controlled release of blood products. Critical services were maintained, but routine testing and volumes dropped sharply in the first week. A stepwise recovery ensued: by day 3 a limited laboratory information systems functionality was restored on a local network, by day 10 most laboratory services resumed albeit with workflow adjustments, and normal operations were largely re-established within two months. Our case points out to the operational resilience of a clinical laboratory during a prolonged cyber crisis. Effective crisis management, including timely incident response planning, staff adaptability, and emergency procedures, improved patient care in such a dreaded organizational situation and allowed for the return to normal workflow of the clinical laboratory.

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.