Clinical laboratory最新文献

Background: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.

Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.

Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals. Notably, TGS exhibited a 5.04% higher detection rate compared to PCR-based methods (68.91% vs. 63.87%). For HBA1/2 mutations, TGS accurately detected three types of rare HBA1/2 mutations (--THAI, HBA2:c.34A>C, and HBA1:c.354_355insATC), two types of rare HBA compound mutations (ɑWSɑ/ɑCap+23(C>G)ɑ and -ɑ3.7/ɑIVS-Ⅱ-34ɑ), and three rare triplicates of α-globin variants (ɑɑ/ɑɑɑanti3.7, --SEA/HKɑɑ, and ɑɑ/ɑɑɑanti4.2). For the HBB gene, TGS detected two rare HBB mutations, namely HBB:c.316-45G>C and HBB:c.170G>A. For these 13 cases of rare thalassemia gene mutations, most patients exhibited varying degrees of microcytic hypochromia. However, patients with mutation in HBA2:c.34A>C, HBA1:c.354_355insATC, and HBB:c.170G>A did not exhibit typical results in blood routine tests but had abnormal hemoglobin composition. Additionally, TGS confirmed the cis/trans configuration of 2 allelic gene mutations in one step.

Conclusions: Compared to traditional genotyping methods, TGS increased the detection rate of positive HB gene mutations and identified rare Thal cases with variable phenotypes. For Thal screening, it is recommended to perform both blood routine tests and hemoglobin electrophoresis, combined with TGS, to minimize the risk of missed or incorrect diagnoses in clinical practice. Although TGS is currently more expensive than other methods, it pro-vides a comprehensive approach for Thal screening and clinical diagnosis, particularly for rare Thal variants. As sequencing throughput increases and costs decrease, TGS can be widely applied in the screening of genetic diseases.

Background: Early identification of massive transfusion (MT) requirement in geriatric patients with severe trauma is challenging. Existing systems for predicting MT need in trauma patients have not been systematically evaluated for their relevance to the geriatric population. This study aimed to evaluate the predictive accuracy of initial vital signs and the Glasgow coma scale (GCS) in geriatric trauma patients for predicting MT.

Methods: We conducted a retrospective review involving data from geriatric patients with severe trauma admitted to our Level I trauma center for an observational study and to develop a prognostic model for MT using logistic regression. The new trauma scoring system was compared with the existing scoring systems.

Results: A total of 193 patients with exhaustive medical records were included in the analysis; 19 (9.8%) of them received MT. A new trauma scoring system, RHG, was calculated, which involved GCS score, heart rate, and respiratory rate. Compared with existing trauma scores, our novel model, RHG, yielded the highest area under the receiver operating characteristic (ROC) curve for the prediction of MT (0.861; 95% confidence interval [CI], 0.788 - 0.933). The RHG exhibited a robust sensitivity of 90.0% and a respectable specificity of 75.3% in identifying MT.

Conclusions: The RHG scoring system is a simplified, yet powerful, tool for predicting the necessity of MT in geriatric patients with severe trauma. By utilizing just the GCS score, heart rate, and respiratory rate, it offers an early indicator of MT requirement, eliminating the need for sophisticated equipment.

Background: Due to environmental hypoxia on the high-altitude local residents often exhibit a compensative increase in hemoglobin concentration to maintain the body's oxygen supply. In certain people, the number of red blood cells continues to grow, resulting in high altitude polycythemia (HAPC) which is characterized by headache, disorientation, sleeplessness, and bone discomfort. HAPC is often associated with multiple complications, of which lower extremity arteriosclerosis obliterans (LEASO) is rare.

Methods: Here we report two long-term Tibetan male patients living in plateau areas, who were diagnosed with HAPC complicated with LEASO. The diagnostic standards for HAPC are based on the Qinghai score, which is that the patient currently or once lived in high-altitude areas, and the results of conventional blood tests show that hemoglobin Hb > 21 g/dL in males and Hb > 19 g/dL in females. Due to severe complications caused by abnor-mally high hemoglobin levels, they underwent an individualized regimen of therapeutic erythrocytapheresis (TE).

Results: After one TE treatment, both hemoglobin and hematocrit decreased significantly in 2 patients (Hb decreased from 20 g/dL and 21 g/dL to 17.6 g/dL and 18 g/dL in the two patients), alleviating the further deterioration of the disease caused by abnormal erythrocyte elevation.

Conclusions: TE can reduce the hemoglobin and hematocrit of HAPC patients in a timely and effective manner and play a clinical role in alleviating the disease progression of patients to a certain extent, especially for patients with complications. TE needs to be implemented in time.

Background: Transfusion-associated hypotension (TAH) is characterized by the abrupt onset of hypotension immediately after the start of transfusion and usually resolves when transfusion ceases. The pathogenesis of TAH is not yet fully understood.

Methods: A 36-year-old woman underwent exploratory laparotomy and cesarean section due to cervical squamous cell carcinoma. During surgery, the patients experienced acute, profound intraoperative hypotension within 5 minutes after the initiation of the prestorage leukocyte-reduced suspension red blood cells (RBC) transfusion. A series of laboratory tests confirmed TAH. The patient then underwent a successful blood transfusion and operation. TAH can occur in all types of blood components under various conditions. The literature surrounding the incidence of TAH differs widely from 0.03 to 2.13 in 10,000.

Conclusions: This is the first case report of TAH in an intraoperative pregnant woman in China, neither associated with prestorage leukocyte-reduced RBC nor irrelevant to ACE inhibitors. Some biological response mediators (BRMs) and acute phase reactive proteins might play a role in this case. Understanding the etiology and the pathophysiology of TAH facilitates proper management, leading to improved transfusion safety.

Background: In Saudi Arabia, cervical cancer, frequently caused by human papillomavirus (HPV) infection, is a common cancer. The usual procedures for screening and diagnosing cervical cancer include Pap smears and HPV tests, even though they have considerable drawbacks, particularly for older women (> 60 years) who have limited access to or compliance with these tests. Urinalysis is a simple, noninvasive test that has been suggested as an alternative procedure. This study aimed to investigate the change in urinalysis characteristics in cervical cancer patients in elderly females and the possible use of urinalysis as a screening or diagnostic tool for cervical cancer in older women.

Methods: This was an exploratory cross-sectional study of 190 cervical cancer patients diagnosed between January 2018 and August 2021. Based on age, the study included two groups, < 60 years and ≥ 60 years. Urinalysis characteristics, including bacterial count, blood level, protein level, and squamous epithelial cell shedding, were compared between the age groups by using the chi-squared and Kruskal-Walli tests.

Results: The results showed a significant difference between aged females and younger females with cervical cancer at the blood level, protein level, and squamous epithelial cell shedding in the urine. The older women (≥ 60 years) had higher incidences of increased bacterial count, blood levels, protein levels, and squamous epithelial cell shedding than the younger women (< 60 years).

Conclusions: The main finding of the study implies that there are significant changes in urine characteristics in cervical cancer patients including hyperproteinemia, hematuria, and squamous cell shedding in elderly patients compared to younger patients, and it proposes a potential role for urinalysis as a screening tool for cervical cancer in older women. Urinalysis could be a potential screening tool for cervical cancer in older women who have not been screened or have no screening access. Further studies are needed to validate these findings.

Background: Glycosylated hemoglobin (HbA1c) is a stable compound in human blood that covalently binds the N-terminal valine residue of the β-chain in hemoglobin A to the free aldehyde group of glucose. It can reflect the average blood glucose level of patients in the past 2 - 3 months. Therefore, the accuracy of HbA1c detection results is of great significance for the diagnosis and differential diagnosis of diabetes.

Methods: We report a case of false elevation of HbA1c measured by a high-performance liquid chromatography (HPLC) system. Using different detection platforms and capillary electrophoresis analysis to identify the causes of abnormally elevated HbA1c levels.

Results: HbA1c levels decreased to the normal reference range on a different testing platform. Meanwhile, capillary electrophoresis analysis showed the presence of hemoglobin variants. Therefore, the patient's HbA1c result is abnormally elevated, which is considered a pseudo elevation caused by hemoglobin variants.

Conclusions: When HbA1c is abnormally high but there is no clinical symptom of diabetes, the staff should consider the possibility of hemoglobin variants interfering with HbA1c detection. They should simultaneously use different methods to detect HbA1c and conduct hemoglobin component analysis if necessary.

Background: AML-M4Eo is a type of AML characterized by malignant proliferation of granulocyte and monocyte precursor cells accompanied by eosinophilia. Patients present as anemia, infection, bleeding, and tissue and organ infiltration. MICM classification makes the classification of AML more accurate and lays a foundation for the correct treatment and prognosis of AML.

Methods: Blood routine and bone marrow routine tests were used to detect the cell proliferation condition in peripheral blood and bone marrow of patients. AML 96 genes test and bone marrow cytogenetic examination were used to determine the results of gene mutations and chromosome abnormalities.

Results: Blood routine of the patient indicated a WBC of 125 × 109/L with 28% blasts. Bone marrow biopsy was performed based on the medical history. The bone marrow routine showed 12.0% myeloblasts, 11.0% promonocytes and 15% eosinophilic cells, indicating AML-M4Eo. AML gene and cytogenetic analysis showed NPM1/ DNMT3A/IDH2 gene mutations and t(5;12)(q31;p13).

Conclusions: Based on the case and relevant literatures, we explored the relationships between AML and NPM1/ DNMT3A/IDH2 gene mutations and t(5;12)(q31;p13), as well as their values in treatment and prognosis for AML.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare complication of multiple myeloma (MM), with limited data available on its incidence, clinical presentation, and treatment. The underlying mechanisms linking MM and HLH remain unclear, including the potential role of MM treatment agents in triggering HLH.

Methods: This case report presents a patient with MM who developed HLH while on lenalidomide maintenance therapy.

Results: The patient achieved a successful response to first-line ruxolitinib treatment. While the exact cause of HLH in this case remains unclear, potential factors include the patient's underlying MM, lenalidomide therapy, and recurrent infections.

Conclusions: The successful treatment with ruxolitinib highlights its potential as a therapeutic option for HLH in MM patients. Further research is needed to elucidate the pathogenesis of HLH in this context and to optimize treatment strategies.

Background: The aim of this study was to determine the reference intervals of 14 clinical biochemistry tests in healthy individuals aged 18 - 65 years. The reference intervals determined by using direct and indirect methods were compared with each other and the manufacturer's RI in terms of gender.

Methods: Blood was collected from 302 reference subjects selected on the basis of admission and exclusion criteria based on the procedures set out in document C28-A3, and 14 clinical chemistry tests were performed using the analytical systems available in our laboratory. The analyses were conducted using the MedCalc and SPSS20 programs in the direct method and the Bellview (1.2.6 Version) program in the indirect method, according to the Bhattacharya procedure.

Results: Nine biochemical tests showed statistically significant differences according to gender (p < 0.05). These tests include alkaline phosphatase, lactate dehydrogenase, high-density cholesterol, low-density cholesterol, urea, uric acid, triglycerides, total cholesterol, and inorganic phosphate.

Conclusions: The direct method was the first method used to obtain the reference intervals. The indirect method can be used as an alternative to the direct method for AMLY and UA tests for the general population. According to the manufacturer's RI, lower and upper limits of HDL, LDL, Ca, and Mg were compatible with indirect RI in two genders. Lower and upper limits of ALP, LDH, and ALB were compatible with manufacturer's RI in female.

Background: Hepatitis C virus (HCV) and hepatitis B virus (HBV) infections pose significant global health concerns, contributing to chronic liver diseases. Blood transfusion is identified as a potential route for the transmission of these viruses, necessitating effective screening strategies for blood donors. The aim of this study was to assess the significance of nucleic acid testing (NAT) in detecting HBV and HCV infections among blood donors who initially tested negative in serological tests. Additionally, the study aimed to determine the seroprevalence of HBV and HCV infections among blood donors in Hail.

Methods: A total of 23,954 records were retrieved from voluntary blood donors at Hail Regional Laboratory and Blood Bank from January 2020 to April 2023. ‎Chi-squared tests were used to assess the association between the serological and NAT results, while t-tests were employed to compare the means of continuous variables.

Results: Numbers of the reactive ELISA serological methods or screening were 36 (0.15%) for HBs Ag, 931 (3.6%) for HBcAb, 57 (0.23%) for HBsAb, and finally, 57 (0.23%) for HCV Ab. Seroprevalence was low, with a prevalence rate of 0.15% for HBV and 0.23% for HCV. The study compared serological and nucleic acid testing results for hepatitis B and C infections; a small percentage (0.01%) showed reactive NAT results, indicating early acute infections that may have been missed by serological testing alone.

Conclusions: The study concludes that incorporating NAT into blood screening protocols is crucial for enhancing early infection detection and reducing risk of transfusion-transmitted infections. Low seroprevalence rate suggests effectiveness of existing preventive measures.