Clinical laboratory最新文献

Background: The unilateral absence of a pulmonary artery (UAPA) is a very rare congenital pulmonary vascular malformation. Since the first case was reported in 1868, the overall incidence of UAPA has been at a level of 1/300,000 - 1,200,000. Isolated UAPA without other cardiac anomalies is rare. Here we report a young woman who came to the clinic with hemoptysis as the main manifestation. Isolated UAPA with multiple vascular malformations was finally diagnosed by DSA angiography. The diagnosis and treatment experience and gains of UAPA are discussed in combination with the treatment process of this patient.

Methods: Appropriate laboratory tests, chest computed tomography (CT), Computed Tomography Pulmonary Angiogram (CTPA), and DSA angiography of the pulmonary arteries were used to explore the etiology.

Results: Chest CT showed that the bronchial tubes in the right lung segment and below were not obvious, and CTPA showed that the pulmonary arteries in the middle and lower lobes of the right lung were not visible, and the diagnosis of isolated unilateral pulmonary artery agenesis with multiple vascular malformations was clearly made by pulmonary artery DSA angiography.

Conclusions: In patients with unexplained hemoptysis, we should be alert to the possibility of vasculopathy, and angiographic techniques should be applied in a timely manner when plain CT fails to make a definitive diagnosis.

Background: The ABO, Rh, and Kell blood groups are the most immunogenic and clinically important blood antigens. These antigens can trigger strong immune responses after blood transfusions, leading to alloimmunization and post-hemolytic transfusion reactions. The aim of this study was to determine prevalence of ABO, Rh, and Kell blood group antigens at the Al-Qurayyat Regional Laboratory and Blood Bank Center, Al-Qurayyat region, Saudi Arabia.

Methods: This study was a prospective observational cross-sectional study conducted at the Al-Qurayyat Regional Laboratory and Blood Bank Center from November 2022 to September 2023. The selection of voluntary and replacement donors was based on recommendations by the Saudi Central Board for Accreditation of Healthcare Institutions (CBAHI). A total of 779 Saudi donors aged between 18 and 60 years participated in the study.

Results: In this study, O blood group was the most prevalent (50.1%), followed by B (32.0%), A (14.4%), and AB (3.6%). RhD positivity was relatively high (93.3%); a characteristic of global trends. Among RhD-positive individ-uals, R1r and R1R1 were the most prevalent Rh phenotypes, consistent with trends observed in Caucasian and Asian populations; however, the most frequent Rh phenotype in RhD-negative individuals was rr. Presence of the Kell antigen was observed in 9.5% of the participants, and interestingly all individuals who tested positive for the Kell antigen were also RhD positive. Conversely, no RhD-negative individuals exhibited the Kell antigen.

Conclusions: Findings from this study highlight the importance of implementing proper inventory management to ensure safe transfusion of blood products. Additionally, this study established a crucial baseline for clinically important blood antigens that also enhances understanding of blood groups and regional variations that could better inform healthcare management systems and public health policies in Saudi Arabia.

Background: B-cell-specific Moloney murine leukemia virus integration site 1 (BMI1) and Fas ligand (FasL) are two critical stemness genes believed to play a role in the development of colorectal cancer (CRC). This study aimed to investigate the expression levels of these genes in primary CRC tumors to assess their correlation with cancer progression and prognosis.

Methods: The relative expression levels of BMI1 and FasL were analyzed using real-time polymerase chain reaction in 100 primary CRC tumor samples along with paired adjacent non-cancerous tissues. The association between the gene expression levels in primary tumor tissues and clinicopathological features, as well as the overall survival of patients, was evaluated.

Results: The primary cancerous tissues exhibited higher expression levels of BMI1 and FasL compared to their adjacent non-cancerous tissues. The relative expression levels of BMI1 and FasL were found to significantly correlate with tumor size, grade, TNM stage, metastasis (p = 0.0001 for all), and reduced overall survival time (p = 0.00001). Moreover, BMI1 and FasL emerged as independent prognostic factors in the multivariate Cox regression analysis.

Conclusions: The results of this study showed that elevated levels of BMI1 and FasL in the cancerous tissue of colorectal cancer patients are linked to cancer progression and poor prognosis, highlighting their significant roles in the development of CRC.

Background: Maresin-1 (MaR1) is a macrophage-derived antiinflammatory lipid mediator that negatively regulates oxidative and proinflammatory cytokines and also restores integrity in various tissues after inflammation. Non-resolving inflammation is known to have an important role in the pathogenesis of hepatocellular carcinoma (HCC). The aim of the present study was to evaluate the role of MaR1 in pathogenesis and early diagnosis of HCC.

Methods: The study was conducted in 102 participants, including 30 volunteers with no hepatic disease, 39 patients with hepatic cirrhosis, and 33 patients with HCC that developed additionally to cirrhosis. Serum MaR1 levels of all participants were measured by enzyme-linked immunosorbent assay (ELISA).

Results: There was a significant difference between the circulating MaR1 levels of the three groups. MaR1 level was found to be significantly lower in the HCC group compared to the cirrhotic group (p < 0.001) and in the cirrhotic group compared to the healthy control group (p < 0.001). MaR1 level was independently associated with cirrhosis (vs. controls, OR: 0.995, p = 0.025) and with HCC (vs. controls, OR: 0.962, p = 0.035; and vs. cirrhotic patients, OR: 0.987, p = 0.006). ROC analyses demonstrated that MaR1 levels of < 311.66 had 72.73% sensitivity and 100% specificity for HCC differentiation from controls, while a < 428.08 cutoff had 96.97% sensitivity and 38.46% specificity for differentiation from cirrhotic patients.

Conclusions: Serum MaR1 levels were significantly decreased in patients with HCC, compared to those with normal or cirrhotic hepatic tissue. Therefore, MaR1 may possibly be a valuable biomarker in the early diagnosis of HCC and in the differential diagnosis of HCC from cirrhosis.

Background: Hundreds of miRNAs have been reported to be dysregulated in Parkinson's disease (PD), providing valuable assistance in improving its diagnosis. The purpose of this study was to analyze the expression and diagnostic value of miR-19b-3p in PD patients, as well as its relationship with inflammatory factors.

Methods: We recruited 50 PD patients and 50 healthy age- and gender-matched controls and collected demographic data and biochemical parameters from both groups. RT-qPCR was used to detect miR-19b-3p levels in serum. ELISA was used to detect serum levels of TNF-α and IL-1β. Receiver operating characteristic (ROC) curves were constructed to evaluate the diagnostic value of miR-19b-3p in PD patients.

Results: Serum miR-19b-3p expression was downregulated in PD patients compared with healthy controls. A negative correlation was found between miR-19b-3p levels and the MDS-UPDRS score in PD patients (r = -0.686, p < 0.01). In ROC curve analysis, the area under the curve of miR-19b-3p for prediction of PD was 0.779. In PD patients, serum miR-19b-3p levels were negatively correlated with serum IL-1β (r = -0.556, p < 0.01) and TNF-α levels (r = -0.592, p < 0.01).

Conclusions: Serum miR-19b-3p might serve as a diagnostic and predictive biomarker for PD. The association detected between miR-19b-3p and two common markers of inflammation (IL-1β and TNF-α) may suggest a role for miR-19b-3p in PD-associated neuroinflammation.

Background: Over a thousand types of hemoglobin variants have been reported. It is necessary to understand the impact of variants on the accuracy of various methods. The effect of hemoglobin variants on HbA1c determination depends on different detection methods.

Methods: A 53-year-old female presented with abnormally elevated glycated hemoglobin (HbA1c) in a routine medical check-up. Capillary electrophoresis (CE) indicated the presence of hemoglobin variant. In the family screening, we found her mother, sister, and daughter all had the same heterozygous mutation (c.397A > G, K133E) in the HBB gene.

Results: This is the first known familial case of Hb Takasago in China. Improving the understanding of hemoglobin variants has important medical significance. In the case of abnormal HPLC chromatograms, it is crucial to apply appropriate detection methods, find accurate causes, and communicate with clinicians in a timely manner.

Conclusions: The use of appropriate HbA1c detection methods that are not affected by related variants can ensure the accuracy of the results. In the existence of abnormal HPLC chromatograms, it is necessary to communicate with clinical clinicians. Given its heredity and prevalence, effective screening for abnormal hemoglobinopathies is of great significance for improving the quality of the population.

Background: Angiostrongylus cantonensis is a rare zoonotic parasitic illness contracted by consuming raw or semi-raw food contaminated with the third-stage larvae of Angiostrongylus cantonensis, such as freshwater shrimps, fish, snails, frogs, etc. [1]. The parasite can stimulate the host to generate an immune response and cause tissue damage, primarily invading the central nervous system of the human body. However, the liver is relatively infrequently affected and is prone to missed diagnosis and misdiagnosis.

Methods: Comprehensive laboratory routine examinations, including blood routine, biochemistry, and others, were carried out on the patient. Additionally, abdominal enhanced CT and MRI imaging inspections were conducted, and in combination with the patient's epidemiological history, parasitic antibodies, and mNGS were detected.

Results: Blood routine examination reveals a white blood cell count of 12.54 x 109/L, with an eosinophil percentage of 52.9%. The C-reactive protein (CRP) is 45.74 mg/L, alanine aminotransferase (ALT) is 325 U/L, aspartate ami-notransferase (AST) is 149.2 U/L, alkaline phosphatase (ALP) is 324.7 U/L, gamma-glutamyl transferase (r-GT) is 424.8 U/L, and lactate dehydrogenase (LDH) is 375 U/L. A full abdominal enhanced CT scan indicates multiple low-intensity foci in the liver. An enhanced MRI of the upper abdomen shows abnormal liver signals, suggesting a higher possibility of inflammatory lesions. The parasite antibody test turned out positive for antibodies against Angiostrongylus cantonensis. It is considered that the patient is infected with Angiostrongylus cantonensis involving the liver. After two weeks of clinical treatment with albendazole, the patient's symptoms improved, and no significant abnormalities were detected in related examinations.

Conclusions: Shaoxing is a non-endemic region of Angiostrongylus cantonensis. The diagnosis and treatment of this disease are rather challenging, and cases involving liver are even rarer. During the process of diagnosis and treatment, if an abnormal increase of eosinophils is detected in routine blood tests, in combination with clinical symptoms and epidemiological history, tests such as parasitic antibodies and mNGS should be added for a clear diagnosis.

Background: Janus kinase II (JAK 2) mutation plays a critical part in the pathophysiology of myeloid pathologies and has been presented to be tangled in thrombotic obstacles of these sicknesses. This study documents the prevalence of JAK 2 v617 mutations in malignant and non-malignant tumors in the Eastern province of the Kingdom of Saudi Arabia.

Methods: A total of 112 patients were included in the current study between June 2022 and May 2023 at the Molecular Biology Laboratory of the King Fahad Hospital of the University, AlKhobar, Saudi Arabia. Laboratory data involved the hematological parameters (hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin concentration, mean corpuscular hemoglobin, hematocrit, white blood cells, red blood cells, and platelets) and real-time PCR JAK2 V617F mutation qualitative assay.

Results: The prevalence of JAK 2 disease among 112 patients was found to be (n = 13) 12%. White blood cell count was relatively higher in the positive patients, but the difference was statistically nonsignificant (p = 0.846). Similarly, the hemoglobin level among the positive patients was higher, 14.62 g/dL, but still not significantly higher (p = 0.075). However, red blood cell count in the JAK2 patients was significantly higher compared to the negative patients (p = 0.002). Similarly, the percentage of red blood cells measured by HCT test was also significantly higher among the JAK2-positive patients (p = 0.036) compared to the negative patients.

Conclusions: We believe these observations warrant a comprehensive search for activated tyrosine kinases in myeloproliferative disorders and hematological malignancies, as there are likely additional unidentified genetic events with biological and therapeutic significance. Additional in vitro and in vivo studies are needed to determine the cause of the specificity of JAK2 V617F for myeloid and lymphoid diseases.