Laboratory medicine最新文献

Introduction: Laboratory immunologists occasionally encounter rare immunofluorescence patterns, such as the centromere protein F (CENP-F)-like pattern, classified as AC-14 by the International Consensus on ANA Patterns (ICAP). The clinical and biological significance of anti-CENP-F antibodies remains unclear, but their presence appears to be related to events involving increased or abnormal cell proliferation, including malignancies.

Methods: This case report describes the diagnostic journey of a patient who presented with clinical manifestations of chronic spontaneous urticaria (CSU), the laboratory report for which indicated the presence of a CENP-F-like (AC-14) antinuclear antibody (ANA) pattern during routine testing for the cause of her symptoms. Concerned by the result, the patient independently searched for information online and discovered a potential association between anti-CENP-F autoantibodies and cancer. This search led to considerable anxiety and prompted her to pursue further medical evaluations to rule out malignancy. The resulting diagnostic pathway involved consultations across several medical disciplines.

Results: This case highlights the complexity of interpreting uncommon ANA patterns and underscores the critical role of the laboratory in such contexts. In particular, it emphasizes that (1) ANA testing should be requested only in well-defined clinical contexts; (2) the CENP-F-like ANA pattern is not diagnostic of malignancy in low-risk patients.

Discussion: Laboratories can play a crucial role in supporting clinicians, providing confirmation of laboratory results, even in the absence of commercial tests for determining the antigenic specificity. We believe that this case exemplifies the importance of correct and careful laboratory reporting, especially in an era where patients frequently engage in self-diagnosis. It also underlines the value of multidisciplinary collaboration in the management of unexpected laboratory results.

Introduction: Central nervous system toxoplasmosis usually occurs in immunocompromised patients and is associated with severe clinical findings. It is rare in immunocompetent individuals.

Methods: A young patient presented with mild neurologic findings. Brain magnetic resonance imaging (MRI) with intravenous gadolinium contrast revealed a calcified lesion with mixed signal intensity in the cerebellum surrounded by mild edema and showing mild enhancement. Elevated immunoglobulin G and M titers for Toxoplasma gondii were found. A comprehensive diagnostic workup for other infectious, autoimmune, malignant, and immunosuppressive conditions yielded no clinically significant findings. Other common sites of toxoplasmosis involvement were excluded.

Results: Treatment with sulfamethoxazole-trimethoprim resulted in improvement of headaches and neurologic signs. At the 2-year follow-up, serial brain MRI scans showed no clinically significant changes apart from the absence of contrast enhancement. Clinically, the patient reports intermittent migraine-like headaches and a mild tremor in both upper limbs. No evidence of immunodeficiency was identified, supporting a final diagnosis of central nervous system toxoplasmosis in an immunocompetent patient.

Discussion: Central nervous system toxoplasmosis can occur in immunocompetent individuals, even with mild or atypical neurologic presentations. Brain MRI and serum serology are crucial for diagnosing these cases.

Introduction: The American Society for Clinical Pathology Board of Certification Research and Development Committee has undertaken regular surveys of Medical Laboratory Science (MLS) education programs to gather information to support MLS program directors and faculty in educating students.

Methods: The survey was sent out to MLS program directors and faculty who answered questions related to demographics, education level and rank, certification patterns, experience, responsibilities, salaries, and retirement.

Results: Results were mainly analyzed by the respondents' titles. The survey data reveal a newer cohort of program directors and faculty, which affected data such as retirement and experience. Hospital program directors' and faculty's salaries have increased at a similar rate to inflation since 2020, but salaries for university program directors and faculty have increased at a much slower rate than inflation within the same time frame.

Discussion: Results of previous surveys in 2019 and 2022 are also reported. At the time the 2023 survey was conducted, laboratory professional training programs were beginning to return to the "new" normal following the COVID-19 pandemic restrictions. The results of this survey and those of subsequent years will shed light on the changes in the MLS education field and the impact of the pandemic on program directors and faculty.

Introduction: We sought to establish trimester-specific reference intervals of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) using real-world data.

Methods: Deidentified data for FT4, TSH, and anti-thyroid peroxidase antibody (TPO-Ab) associated with pregnancies from July 1, 2014, to December 31, 2019, were extracted from the institutions' medical records. After data cleaning, trimester-specific reference intervals were established using the maximum likelihood method in TPO-Ab-negative pregnancies.

Results: We included 55 323 records after data cleaning. Reference intervals for TSH and FT4 built using the maximum likelihood method in the first, second, and third trimesters were 0.40 to 4.09, 0.57 to 4.04, 0.73 to 4.07 mIU/L and 12.2 to 20.5, 10.2 to 18.2, and 9.0 to 15.5 pmol/L, respectively. Compared with reference intervals from the Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum (2nd edition), the maximum likelihood method-calculated reference intervals of FT4 were comparable with guideline-suggested reference intervals, with the first trimester reference intervals slightly lower and the second trimester reference intervals showing narrower limits. For TSH, the maximum likelihood method-calculated reference intervals were narrower than guideline-suggested reference intervals.

Discussion: Trimester-specific reference intervals of TSH and FT4 for pregnancies were established using the maximum likelihood method. Compared with guideline-suggested reference intervals, no clinically significant discrepancies in FT4 and narrower limits in TSH were observed.

Introduction: Multiple myeloma (MM) is characterized by the abnormal proliferation of plasma cells, resulting in the overproduction of distinctive monoclonal proteins (M-protein). Suspected MM necessitates screening for M-protein through a combination of serum protein electrophoresis, serum immunofixation (SIFE), and serum free light chain (SFLC) determination. An M-protein appears as a relatively restricted band on agarose gel, where migration in ɑ-2 is rare.

Methods: A 55-year-old man with pulmonary tuberculosis presented with severe lower back pain. On examination, he appeared chronically ill, with conjunctival pallor. X-rays revealed vertebral compression fractures. The full blood count confirmed anemia; however, serum calcium and creatinine levels did not meet myeloma-defining event criteria.

Results: The serum protein electrophoresis revealed hypogammaglobulinemia, with the SIFE demonstrating unusual unrestricted κ staining in the ɑ-2 region. A markedly elevated κ SFLC and κ:λ ratio were found. Bone marrow examination demonstrated approximately 90% plasmacytosis. Urine immunofixation revealed a small, restricted κ band disproportionate to the κ SFLC. Notably, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry identified only polyclonal κ SFLC.

Discussion: Given the absence of a discernible M-protein on SIFE, a small κ restriction on urine immunofixation, and a polyclonal increase in κ SFLCs, the patient's condition is being managed as an oligosecretory MM.

Introduction: Congenital insensitivity to pain with anhidrosis (CIPA), caused by biallelic pathogenic variants in the NTRK1 gene, is a rare disorder characterized by the loss of pain sensation, anhidrosis, and impaired temperature regulation.

Methods and results: We present a clinical case of a 2-year-old male Chinese patient, compound heterozygous for 2 NTRK1 pathogenic variants-c.851-33T>A and c.1805G>A-confirmed by clinical exome sequencing. The patient exhibited classic CIPA symptoms, including recurrent fever episodes, xerotic skin, sparce hair, abnormality of the dentition, and anhidrosis. The child also displayed preserved fine touch but lacked pain response to stimuli, emphasizing the clinical challenges posed by pain insensitivity, including an increased risk of injury. Multidisciplinary management approach involving dermatology, pediatrics, pediatric neurology, pediatric dentistry, pain management, and genetics was coordinated.

Discussion: This case reinforces the importance of early diagnosis and lifelong palliative care to prevent complications and manage symptoms. In addition, this report highlights the higher prevalence of CIPA in Asian populations and the need for ongoing research to explore potential therapeutic interventions targeting pain perception and neurodevelopmental pathways.

Introduction: The early diagnosis of acute coronary syndrome remains challenging, with high-sensitivity cardiac troponin (hs-cTn) exhibiting limitations in the first 3 hours after symptom onset. Cardiac myosin-binding protein C (cMyc) shows promise as an earlier, more specific biomarker.

Methods: Comparative analyses of cMyc vs hs-cTn in multicenter studies (eg, the Kaier trial, n = 1954) and the integration of this testing into 0/1-hour algorithms were assessed. Applications in myocardial infarction subtyping, cardiac surgery, heart failure, and prehospital settings were also examined.

Results: Cardiac myosin-binding protein appears in circulation within 30 minutes of ischemia and peaks earlier (6 times faster than hs-cTnT). In non-ST-segment elevation myocardial infarction, cMyc combined with hs-cTn increased rule-out rates from 10.9% to 41.9% (P < .001). Its cardiac-specific N-terminal fragment (C0C1f) minimizes false positives, and point-of-care testing feasibility (70-minute turnaround) was demonstrated. Cardiac myosin-binding protein also showed prognostic value in heart failure and cardiac surgery.

Discussion: Cardiac myosin-binding protein demonstrates superior early diagnostic capability for acute coronary syndrome compared with hs-cTn, with potential to transform current diagnostic paradigms.

Introduction: We sought to identify a diagnostic panel based on routine clinical biomarkers that can distinguish chronic kidney disease (CKD) from non-CKD among patients who have chronic heart failure (HF) and predict changes in kidney function in this patient population.

Methods: A total of 432 patients with chronic HF were enrolled at Ningde Municipal Hospital of Ningde Normal University in China. The k-means clustering method was applied to identify a diagnostic panel capable of distinguishing CKD from non-CKD and predicting changes in kidney function after 1 year in patients with chronic HF.

Results: The k-means clustering method identified 2 distinct subgroups among patients with chronic HF, demonstrating 71.59% concordance with actual CKD diagnostic labels. Five biomarkers showed a statistically significant difference between identified subgroups: albumin, lymphocyte percentage, hemoglobin, cholesterol, and apolipoprotein A. The 5-biomarker panel can distinguish CKD from non-CKD in patients with chronic HF at an area under the curve (AUC) of 0.81. Furthermore, this panel demonstrated predictive value for kidney function changes, with an AUC of 0.87 for identifying improved kidney function and 0.75 for predicting worsening kidney function.

Discussion: Our findings suggested that a panel of routine clinical biomarkers can enhance the detection of CKD in patients with chronic HF and may provide additional prognostic value beyond traditional assessments, such as estimated glomerular filtration rate.

Introduction: Cell-derived microparticles that promote coagulation can lead to transfusion-related complications. Although age-dependent changes in hemostasis are known, the impact of donor age on microparticle concentration variability remains largely unexplored. We sought to determine microparticle concentrations and investigate their relationship with donor age.

Methods: Whole-blood samples were collected from volunteers aged 17 to 60 years using K3EDTA as an anticoagulant. Donors were allocated to 1 of 5 age groups. Flow cytometric analysis and counting beads were used to determine microparticle concentrations and their origins.

Results: A cross-sectional study of 394 blood donors revealed a mean (SD) total microparticle count of 25 693 (1578), 26 956 (976), 26 979 (989), 24 886 (987), and 271 331 (1355) particles/µL in blood donors aged 17 to 20, 21 to 30, 31 to 40, 41 to 50, and 51 to 60 years, respectively. Similarly, there were no statistically significant differences in the concentrations of red blood cell (RBC)-derived microparticles, platelet-derived microparticles, or leukocyte-derived microparticles among the donor age groups. Linear regression analysis revealed that the r2 values between the total microparticle, RBC-derived microparticle, platelet-derived microparticle, and leukocyte-derived microparticle concentrations in whole blood and donor age were less than 0.01.

Discussion: Our assessment of microparticle concentration across different blood donor age groups revealed age-independent variability in microparticle levels. These findings enhance our understanding of how donor factors influence microparticle values.

Introduction: This study aimed to evaluate the clinical utility of serum anti-phospholipase A2 receptor (PLA2R) antibodies in assessing clinical features and therapeutic responses in idiopathic membranous nephropathy (IMN).

Methods: A retrospective analysis was conducted on 99 patients with IMN admitted to Tianjin Medical University General Hospital between August 2023 and April 2024, stratified into seronegative and seropositive groups. Baseline characteristics, biochemical parameters, anti-PLA2R antibody levels, and 3 treatment strategy outcomes were analyzed. Receiver operating characteristic curve analysis assessed the diagnostic accuracy of anti-PLA2R antibodies.

Results: Results revealed statistically significant differences in albumin and urine total protein (U-TP) between the seronegative and seropositive groups (P < .05). Compared with the seropositive group, patients in the seronegative group had a better prognosis. Compared with the tacrolimus plus methylprednisolone and cyclophosphamide plus methylprednisolone treatment regimens, the recovery of microalbuminuria, U-TP, albumin, and anti-PLA2R was greatest after treatment with rituximab, and the therapeutic effect was better. Importantly, among these 4 markers, the change in anti-PLA2R was most substantial. The receiver operating characteristic analysis identified an optimal anti-PLA2R cutoff of 15.53 ng/mL, achieving 76.77% sensitivity, 100% specificity, and an area under the curve of 93.3% (P < .001).

Discussion: These findings highlight that rituximab demonstrates substantial clinical value in improving serum albumin levels, reducing U-TP, microalbuminuria, and anti-PLA2R antibody levels in patients with IMN while also underscoring the critical role of anti-PLA2R antibodies in IMN characterization and therapeutic monitoring.