Clinical laboratory最新文献

Background: Colorectal cancer (CRC) has always been one of the most common malignant tumors in the world. Whether the factors related to the diagnosis and risk of CRC can be found from the existing peripheral blood routine indicators.

Methods: The relevant data of patients with colorectal diseases in our hospital of about ten years were collected, the differences among the biomarkers in serum were analyzed, the risk factors were analyzed by logistic regression, the ROC was drawn, and the diagnostic efficacy was evaluated.

Results: Colorectal malignancies and benign diseases in AST, GGT, LDH, D-BIL, ALB, ALP, AchE, CR, TP, PA, RDW, LMR, NMR, TC, TG, HDL-C, CA19-9, CEA, Cyfra21-1, and Fer have statistical differences (p < 0.05). ALB, PLR, CEA, Fer, NLR, TP, GGT, and Cyfra21-1 in different malignant tumor types have statistical differences (p < 0.05). When CEA increased by 1, the risk of colorectal cancer increased by 45.7%. When AchE and HDL-C increased by 1, the risk of colorectal cancer decreased by 32% and 66.8%. Compared with other blood groups, blood group AB colorectal cancer patients had a shallower tumor invasion (p = 0.047). HDL-C were significantly weakly-correlated with tumor size (p < 0.05, |r| < 0.4). CEA, AchE, and HDL-C were combined diagnosed; the sensitivity, PPV, and accuracy were 94.35%, 95.43%, 90.77%, respectively.

Conclusions: The occurrence and development of colorectal cancer is the result of multi-factors, and the combined detection of multi-indicators has positive significance for the diagnosis, pathological stage, and prevention of CRC.

Background: Prenatal serological screening is commonly used to screen for trisomy 21 syndrome (T21); however, it carries a risk of missed detection. In this study, we explored how to reduce missed diagnosis of T21 in serological screening.

Methods: A total of 116 pregnant women with T21 fetuses confirmed by prenatal diagnosis were evaluated. Serological screening and non-invasive prenatal test (NIPT) findings were analyzed.

Results: Twenty-nine T21 fetuses were missed in serological screening; the missed diagnosis rate was 25%, 67.65% of the missed cases were of moderate risk, and 79.31% of the missed pregnant women were under 35 years of age. Nuchal translucency (NT) and the free beta subunit of human chorionic gonadotropin (free-HCGβ) were higher in the detected T21 cases than in the missed T21 cases, while alpha-fetoprotein (AFP) levels were decreased. Forty-eight pregnant women who underwent NIPT in the second trimester were at high-risk for T21.

Conclusions: Prenatal screening should not be ignored in young pregnant women. For serological screening, moderate risk and abnormal single serum markers should also receive greater attention. NIPT can be extended to first-tier screening.

Background: This study aimed to evaluate the utility of 24 single nucleotide polymorphism (SNP) loci associated with iris color and hair color in phenotypic identification of the Han Chinese population in Fujian Province. The selected SNPs, known for their strong correlation with specific human phenotypic features, provide valuable reference data for developing a molecular phenotypic identification system.

Methods: A multiplex genotyping assay system was established with primers for the 24 SNPs linked to iris color and hair color synthesized based on existing literature. In total, 235 unrelated individuals of Han Chinese ethnicity in Fujian Province were included in this study. PowerStats v12 was employed to calculate forensic parameters associated with the 24 SNP loci, including gene frequencies, genotype frequencies, minor allele frequencies, discrimination power (DP), polymorphism information content (PIC), and observed heterozygosity (Ho). Hardy-Weinberg equilibrium tests were conducted for each locus. The SNP genotyping results were uploaded to the HIrisPlex model (https://HIrisPlex.erasmusmc.nl/) to predict iris and hair colors, and the inferred results were compared with manually assessed images. The accuracy of pigment phenotype inference was evaluated by using ROC curves in SPSS 26.0 software.

Results: The accuracy rates of inferring brown iris and black hair phenotypes were 99.6% and 99.5%. The area under the curve (AUC) values were 0.923 and 0.980, respectively.

Conclusions: The 24 SNP loci demonstrated high accuracy in inferring iris color and hair color; it seems to be a useful tool for forensic phenotypic identification and anthropological or evolutionary applications. Establishment of suitable pigment classification criteria and optimized prediction models is based on revealing more phenotypic genetic markers.

Background: The aim of this study was to investigate the changes of T lymphocyte subsets (Th1, Th2, Tc1, Tc2, and Th17) and memory T lymphocyte subsets (Tcm and Tem) in patients with multiple myeloma (MM) at different stages of the disease.

Methods: In total, 25 newly diagnosed patients with MM were selected as the study subjects and 30 healthy people were selected as the control group. The subsets of T lymphocytes such as Th1, Th2, Tc1, Tc2, Th17, Tcm, and Tem in the peripheral blood were detected by flow cytometry at the time of initial diagnosis, infection, and remission.

Results: Th1, Tem, and Tcm cells in MM patients showed a significant decrease compared to the control group. Th2 and Th17 cells in MM patients showed a significant increase compared to the control group. Total Th1 cells and memory Th1 cells in MM patients with bacterial infection were significantly higher than at initial diagnosis (p < 0.05). The Tcm of Th2 cells in the remission stage were significantly higher than those in MM patients with no remission.

Conclusions: MM patients have decreased Th1 cells and increased Th2 and Th17 cells. The changes in memory Th1 cells were related to bacterial infection in MM patients. The increase of Tcm of Th2 cells may be associated with disease remission. The balance of T lymphocyte subsets plays an important role in the pathogenic course of MM.

Background: Alzheimer's disease is a progressive neurodegenerative disease that causes an irreversible decline in the functional, cognitive, and behavioral activities of affected individuals. Amifostine is a cytoprotective drug with well-documented pleiotropic effects such as anti-inflammatory, antioxidant, and anti-apoptotic effects. The study was carried out to investigate the neuroprotective effect of amifostine in a mouse model of Alzheimer's disease.

Methods: Swiss Webster albino mice were divided into four groups (n = 10): (I) control, (II) scopolamine (1 mg/kg i.p. once daily for 7 days), and two treatment groups. The treatment groups received the test drugs prophylactically for 2 weeks, followed by induction with scopolamine and the test drug at the same doses for one week, followed by (III) donepezil (5 mg/kg daily, i.p. for three weeks) or (IV) amifostine (200 mg/kg daily, i.p. for three weeks). After the treatments, behavioral tests were conducted using the spontaneous Y maze test and the novel object recognition test (NORT). The brain tissue homogenates of the experimental mice were processed for biological analysis. The levels of inflammatory (TNF-α, IL-6, and IL-1β), and oxidative stress (SOD and MDA) markers, as well as acetyl cholinesterase, were determined.

Results: Scopolamine intraperitoneal administration resulted in impairment of cognitive performance and neuro-toxicity. Amifostine significantly attenuated scopolamine-induced injury, as observed in improved spatial working memory. Moreover, amifostine significantly reduced lipid peroxidation, increased SOD level, and reduced the proinflammatory markers and acetyl cholinesterase activity in brain tissue homogenates.

Conclusion: Preconditioning with amifostine had a neuroprotective effect, maintained cognitive function, and enhanced cholinergic activity in the scopolamine-induced mouse model of Alzheimer's disease.

Background: Turner syndrome (TS) is a female genetic disorder. Most patients with TS have a 45,X haplotype, but a small proportion have low nonholic chimerism. We here report a rare case of chimeric Turner syndrome in an individual with no phenotype aside from difficulties in conception, which may have been due to TS-associated decreased ovarian function.

Methods: A 41-year-old female presented with no family history of TS, normal facial build, normal intelligence, and no other common clinical features of TS. The patient experienced spontaneous puberty, regular menstruation of a normal volume, bilateral fallopian tube blockage, and multiple cervical cysts.

Results: Karyotype analysis showed 45,X/47,XXX/46,XX cells, whereas fluorescence in situ hybridization also revealed the presence of 48,XXX cells.

Conclusions: There is growing evidence that ovarian function declines with age among those with chimeric TS, reducing their chances of conception. Fluorescence in situ hybridization should be recommended among those with difficulties conceiving to detect those with atypical chimeric TS, who may experience ovarian failure at an early age, to enable timely fertility interventions.

Background: The goal is to study the changes of natural killer T-like (NKT-like) cells with age and explore the value of NKT-like cell changes in the evaluation of immune function and prognosis of tumor patients.

Methods: From January 2021 to December 2021, 19 patients with lung cancer, 37 patients with lymphoma, 16 patients with multiple myeloma (MM), 13 patients with acute lymphoblastic leukemia (ALL), 70 patients with acute myeloid leukemia (AML) treated in the Affiliated Hospital of Chengde Medical College and 141 healthy volunteers included in the healthy control group were recruited to study the change trend of NKT-like cells with age and changes in different tumor patients.

Results: With the increase of age, NKT-like cells in peripheral blood increased gradually in healthy people, mainly composed of CD8+NKT-like cells and CD8-CD4-NKT-like cells. The proportion of NKT-like cells in the lymphoma group and AML group was significantly higher than that in the control group (p < 0.05). The proportion of CD8+NKT-like cells decreased in the Lymphoma, AML, ALL, and lung cancer groups (p < 0.05), there was no statistical significance between MM group and control group (p > 0.05).

Conclusions: With the increase of age, NKT-like cells in peripheral blood gradually increased in healthy people and were mainly composed of CD8+NKT-like cells and CD8-CD4-NKT-like cells. The increase of CD8+NKT-like cells in peripheral blood has important reference value for the evaluation of immune function and prognosis of patients with lymphoma, AML, ALL, and lung cancer and provides direction for immunotherapy.

Background: Thalassemia is a common monogenic disorder, and children with β-thalassemia major require regular blood transfusions and iron removal therapy. Klinefelter syndrome (KS) is a common sex chromosome abnormality, and 48,XXYY is rare. This report is the first to describe a fetus with a karyotype of 48,XXYY in prenatal diagnosis of β-thalassemia major.

Methods: Amniotic fluid was collected by puncture for the prenatal diagnosis of thalassemia, and chromosomal karyotyping was also performed. PCR and reverse dot-blot hybridization (PCR-RDB) were used to identify 17 common β-thalassemia mutations in China. Karyotype analysis of amniotic fluid was performed.

Results: The results of PCR-RDB revealed that the genotype of the fetus was a homozygote of CDs41-42 (-TTCT) in the HBB gene. The karyotype analysis displayed that the fetus had Klinefelter syndrome (KS), and the karyotype was the rare 48,XXYY. The fetus was diagnosed with β-thalassemia major and KS.

Conclusions: An unexpected detection of the rare 48,XXYY in the prenatal diagnosis of a fetus with β-thalassemia major. There is a pitfall of genetic counseling and prenatal diagnosis in China.

Background: Renal hypokalemia is associated with mutation. This study aimed to investigate the clinical features and pathogenic mutations in patients with renal hypokalemia.

Methods: The patients with hypokalemia were enrolled, and the renal function, thyroid function, renin-aldosterone system, urinary potassium excretion, and exome sequencing were performed. The correlation between the clinical phenotypes and causative genes was assessed.

Results: Five patients with hypokalemia were enrolled and diagnosed as tubular hypokalemia. The patients with common clinical manifestations were difficult to differentiate based on atypical laboratory findings. The results of the genetic analysis were as follows: both patient 1 and patient 2 were heterozygous for the c.C625T mutation of the KCNJ1 gene, which is responsible for Bartter syndrome. Patient 3 was heterozygous for the c.G298A mutation of the ATP6V1B1 gene, which is responsible for renal tubular acidosis. Patient 4 had a compound heterozygous mutation of c.G893A of the BSND gene, responsible for Bartter syndrome, and c.1029+5G>A, the ATP6V0A4 gene responsible for distal renal tubular acidosis. Patient 5 had Gitelman syndrome and carried the compound heterozygous mutations c.C1963T and c.G2029A of the SLC12A3 gene. All the above loci were known heterozygous mutations.

Conclusions: The unusual heterozygous mutations were identified in five renal hypokalemia patients. Molecular diagnosis of tubular hypokalemia was conducive to accurate diagnosis and treatment.