Clinical laboratory最新文献

Background: Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by a temporary, isolated elevation of serum alkaline phosphatase (ALP) in the absence of hepatic or skeletal pathology. ALP levels may exceed the upper limit of the age-specific reference range by several-fold, while other biochemical and clinical parameters remain normal. Recognition of THI is crucial to avoid unnecessary investigations.

Methods: Two pediatric cases with markedly elevated ALP were evaluated through laboratory tests, imaging, and clinical follow-up to exclude hepatic or metabolic bone diseases.

Results: Both cases demonstrated spontaneous normalization of ALP within 2 - 3 months, confirming THI.

Conclusions: THI is a benign, self-limiting condition requiring no intervention. Increased awareness among clinicians is essential to prevent overdiagnosis and parental anxiety.

Background: The study aimed to investigate the characteristics of CEBPA mutations in Chinese acute myeloid leukemia (AML) patients.

Methods: We retrospectively analyzed the clinical features and prognostic implications in 358 AML patients, except acute promyelocytic leukemia (APL). Mutations were detected by Sanger sequencing or next-generation sequencing.

Results: A total of 57 mutations were detected in 47 (13.1%) out of 358 patients. Among 47 CEBPA mutated (CEBPAmut) patients, 18 (38.3%) had in-frame mutation in bZIP domain (bZIPinf), and the remaining 29 had frameshift or missense mutation in or out of bZIP domain (bZIPother). Compared with CEBPA wild-type (CEBPAwt) patients, the bZIPinf group was younger and was predominantly distributed in AML without or with differentiation (both p < 0.05). bZIPinf group had a significantly higher complete remission (CR) rate after two courses of induction therapy than the CEBPAwt group (84.6% vs. 56.1%, p = 0.044), whereas bZIPother group had a CR rate of 41.7% (p = 0.025). The median overall survival (OS) of bZIPinf patients was significantly better than that of CEBPAwt (p = 0.014). Multifactorial Cox regression analysis showed that bZIPinf mutation was an independent predictor of favorable prognosis in AML patients (p = 0.024; HR = 0.356; 95% CI: 0.145 - 0.873).

Conclusions: In summary, our data confirm that CEBPA bZIPinf mutation is an independent factor of favorable prognosis in AML patients.

Background: Pseudohyperkalemia, a common pre-analytical error, may lead to misdiagnosis and unnecessary interventions. This report presents two cases emphasizing the critical role of pre-analytical vigilance and interdisciplinary communication.

Methods: Laboratory staff identified discrepancies in potassium measurements and initiated a root-cause analysis, encompassing sample inspection, clinical history review, and experimental validation.

Results: In Case 1, delayed processing in a patient with erythrocytosis (RBC 8.4 x 10¹²/L) caused potassium leak-age. Case 2 involved artifactual hyperkalemia due to double centrifugation. Case 1 was ultimately diagnosed with polycythemia vera. Experimental validation confirmed that delayed/repeated centrifugation elevates potassium levels, with a mean bias of 23.1% (range: 5.9 - 51.1%).

Conclusions: Proactive laboratory-driven investigations, coupled with interdisciplinary collaboration, are imperative to differentiate pseudohyperkalemia from true hyperkalemia and mitigate diagnostic errors.

Background: This study aimed to investigate the correlation between the single nucleotide polymorphism (SNP) of the aldehyde dehydrogenase 2 (ALDH2) gene rs671 locus and susceptibility to acute pancreatitis (AP).

Methods: A total of 58 AP patients were enrolled as the study group, and 51 healthy individuals from the outpatient physical examination center during the same time period were selected as the healthy control group. ALDH2 gene polymorphism was detected in both groups using the Fascan 48S multi-channel fluorescence quantitative analyzer. Blood lipid levels, age, gender, habitual alcohol consumption, and AP episodes were analyzed. Genetic linkage was assessed using the Hardy-Weinberg equilibrium test. Logistic regression and SPSS 25.0 were employed to evaluate associations between ALDH2 rs671 polymorphism, clinical factors, and AP risk.

Results: The proportion of hyperlipidemia was significantly higher in the AP group compared to the healthy con-trol group (p < 0.05). ALDH2 rs671 polymorphism frequencies differed markedly between AP patients and healthy controls (p < 0.05). Subgroup analysis revealed that AP patients carrying the mutant ALDH2 rs671 genotype exhibited a lower proportion of habitual alcohol consumption compared to wild-type carriers (OR = 4.375, 95% CI: 1.178 - 16.250; p < 0.05). No significant differences were observed in age or gender distribution between groups (all p > 0.05).

Conclusions: The ALDH2 rs671 locus mutation is an independent risk factor influencing AP susceptibility. Patients with this mutation may exhibit altered alcohol metabolism pathways, contributing to AP pathogenesis. Further mechanistic studies are warranted to explore therapeutic implications.

Background: HbA1c is a biomarker for the diagnosis of type 2 diabetes (T2D) and prediabetes, in addition to its role in monitoring glycemic control. These indications require mastery of analytical performance. This study evaluated the analytical performance of the ADAMS A1C HA-8180V analyzer used in the biochemistry laboratory of Mohammed V Military Hospital in Rabat (Morocco).

Methods: This is a retrospective study conducted between April 2023 and April 2024. The results of daily internal quality control (IQC) and monthly external quality assessment (EQA) were used to calculate imprecision and accuracy. Three analytical-mathematical models based on the total acceptable error (TAE) were used: biological variation (BV), Sigma metrics (SM), and Model for Quality Targets (MQT) recommended by the IFCC (International Federation of Clinical Chemistry and Laboratory Medicine).

Results: The mean CVs of the IQC were 0.82% and 0.92% for levels 1 and 2, respectively, significantly lower than the 3.4% CV recommended by the state of the art. The mean relative bias of the EQA was 1.47%. According to the BV model, the "desirable" performance level predominated. According to the SM model, the majority of results exceeded 5 sigma. Applying the MQT model, all results exceeded the 2 sigma recommended by the IFCC.

Conclusions: The HbA1c results reported by the laboratory met the IFCC criteria for routine laboratories provid-ing T2D diagnosis and monitoring of diabetic patients.

Background: β-Thalassemia and Hemoglobin Constant Spring (Hb CS) are common hemoglobin disorders in China. Co-inheritance of β-thalassemia major and homozygous Hb CS is extremely rare.

Methods: An 8-month-old male infant with severe anemia and his parents were studied. Hematological parameters were assessed, and genomic DNA was analyzed using fluorescent melting curve analysis, with Sanger sequencing for confirmation.

Results: The parents were identified as β-thalassemia minor with decreased MCH and elevated Hb A2. The pro-band was found to have a homozygous α-genotype (HBA2: c.427T>C) and a compound heterozygous β-genotype (HBB: c.52A>T and c.124_127delTTCT), resulting in the phenotype αCS/αCS and β0/β0. The thalassemia gene variants in the proband were all inherited from the carrier parents, indicating co-segregation within the family.

Conclusions: This study reports a rare case of β-thalassemia major co-inherited with homozygous Hb CS. Genetic counseling and prenatal diagnosis are essential for managing severe hemoglobin disorders in families with thalassemia.

Background: Malaria remains a significant public health challenge globally. Traditionally, microscopic examination of peripheral blood smears has been the gold standard for diagnosing malaria. However, this method not only requires a high level of professional skills from laboratory personnel but also has detection results that are sus-ceptible to various factors. In recent years, artificial intelligence (AI) technology has opened up new possibilities for the automated identification of Plasmodium parasites.

Methods: This study reporting a case of imported malaria, demonstrates the practical application of the DeepSeek model in analyzing Plasmodium parasites in peripheral blood smears and compares its results with those of traditional peripheral blood smear microscopy and Plasmodium genetic testing.

Results: In terms of accuracy, DeepSeek successfully identified Plasmodium parasites in the images of the patient's peripheral blood smears, including the morphology of their different developmental stages, thus effectively reducing the risks of misdiagnosis and missed diagnosis caused by subjective judgment and poor sample preparation quality in traditional methods. Moreover, in terms of efficiency, DeepSeek only took a few minutes to complete the detection of smear images, while traditional microscopy required experienced doctors to spend several hours or even longer.

Conclusions: The high precision and high efficiency demonstrated by DeepSeek not only fully prove its significant advantages in the field of malaria diagnosis but also provide solid support for timely treatment and disease control of patients. Moreover, its working mode of 'AI primary screening + manual review' is expected to become an important technical support for grassroots medical institutions to prevent and control imported malaria.

Background: The purpose of this study was to evaluate the implementation of a prospective transfusion medicine training program and identify the factors that influence the training effectiveness.

Methods: A total of 28 trainees were selected as the study subjects, and a systematic six-month training program was implemented. A questionnaire was used to assess trainees at baseline and after 6-month training.

Results: The basic level of the trainees before the training was low; none of them reached the "excellent" level. Work experience in the transfusion medicine department was positively correlated with baseline knowledge (p = 0.049). After training, overall assessment scores significantly improved (p < 0.001), with notable enhancements in basic theory, transfusion compatibility testing, and clinical application of transfusion. Multivariate analysis re-vealed that the basic knowledge level of trainees was negatively correlated with the training effectiveness, whereas both the trainees' learning attitude and their affiliated hospitals' level were positively correlated.

Conclusions: The training program effectively enhanced the clinical transfusion skills of the professionals, which was influenced by the trainees' basic knowledge level, learning attitude, and their affiliated hospitals' level. Moreover, the trainees' work experience could, to some extent, compensate for any deficiencies in their basic knowledge.

Background: A natural component of the flora on the surface of human mucosa is Eikenella corrodens. It is a gram-negative bacillus that grows slowly and has the potential to seriously infect humans. Encapsulated pyothorax due to invasive Eikenella corrodens has not yet been recorded, despite the fact that E. corrodens infections in several human body locations have been extensively documented.

Methods: We report a confirmed case of a Han Chinese with encapsulated pulmonary edema caused by Eikenella corrodens. The pathogen was detected and confirmed by internal thoracoscopy and nanopore sequencing technology (NTS).

Results: After chest drainage was closed, the patient experienced worsening symptoms of secondary empyema. Ultimately, the patient's lesions were absorbed and the symptoms decreased following medical subchest drainage and frequent chest injections of urokinase for concurrent chest debridement.

Conclusions: Eikenella corrodens mainly causes acute suppurative infections and forms local abscesses. Nanopore sequencing technology is easier to rapidly and accurately target the causative microorganisms than traditional microbiological cultures.