The latest medical research on Clinical Cytogenetics

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about clinical cytogenetics gathered by our medical AI research bot.

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A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.

Neurogenetics

Hereditary spastic paraplegia (HSP) refers to a group of genetic disorders characterized by progressive weakness and stiffness in the muscles of th...

Immune-related lncRNA signature delineates an immune-excluded subtype of liver cancer with unfavorable clinical outcomes.

Clinical Laboratory

Long non-coding RNAs (lncRNAs) play crucial roles in immune regulation and, therefore, may be closely related to the tumor microenvironment (TME). However, there are few studies regarding the relationship between the lncRNAs and the TME in liver cancer.

Firstly, we constructed a lncRNA signature based on the top 10 immune-inversely related lncRNAs obtained from the ImmLnc database and performed disease-free survival (DFS) and overall survival (OS) analyses for the patients included in the Cancer Genome Atlas Liver Hepatocellular Carcinoma (TCGA-LIHC) stratified by the lncRNA signature. Then, we explored the relationship between the lncRNA signature with distinct mutation profiles and the tumor microenvironment (TME).

The lncRNA signature was successfully constructed and verified by survival analysis. The high lncRNA signature was correlated with a decreased DFS and OS in liver cancer and other two gastrointestinal cancers. The mutation profiles showed that the Lnc_high group had a higher number of mutations on many genes, mostly enriched in p53 and WNT pathways. The TME results showed that the Lnc_high group had the highest proportion (51%) of lymphocyte depletion-characterized immune subtype, and a higher expression of immune checkpoint molecules such as LAG3, PD-L1, CTLA4. On the contrary, in the Lnc_low group, infiltrating immune-cell proportions were significantly higher, and a significant enhancement of four axes of the cancer immunity cycle immunogram was observed in this group.

The lncRNA signature we constructed identified an immune-excluded subtype of liver cancer with unfavorable clinic outcomes, which could be tested as a biomarker for immunotherapy in the future.

Plateletcrit for predicting prognosis in patients with hepatic sinusoidal obstruction syndrome caused by pyrrolizidine alkaloid.

Clinical Laboratory

Platelet index was reported to be used as a potential prognostic marker in patients with liver fibrosis. We aimed to explore the association between plateletcrit (PCT) and severity of hepatic sinusoidal obstruction syndrome (HSOS).

Seventy consecutive patients who diagnosed as HSOS by CT and medical history during January 2017-November 2021 were included. All patients were divided into two groups which confirmed as favorable prognosis and poor prognosis on the basis of Child-Turcotte-Pugh score system. The clinical manifestation and laboratory parameters of two groups were retrospectively selected. PCT was evaluated within two groups, and the diagnostic accuracy was evaluated by the area under the receiver operating characteristic curve.

The significant difference between the two groups not only in diarrhea, abdominal pain, abdominal distention, urine volume, and skin ecchymosis (p < 0.005), but also in WBC count, NE count, PLT count, TBIL, and D-Dimer (p < 0.005) were found. The PCT level was significantly higher in HSOS patients with poor prognosis (0.169 ± 0.060) than favorable prognosis patients (0.110 ± 0.047). The area under the receiver operating characteristic curve of RDW in predicting poor prognosis was 0.781, with 67.70% sensitivity and 79.5%specificity.

The PCT level was correlated positively with the poor prognosis in HSOS patients. PCT can be a promising indicator for predicting prognosis in HSOS.

Diagnostic and prognostic value of serum Chitinase 3-like protein 1 in hepatocellular carcinoma.

Clinical Laboratory

The serum Chitinase 3-like protein 1 (CHI3L1) protein level can distinguish the stages of liver fibrosis to a great extent. However, the diagnostic...

Diagnostic value of Lipoarabinomannan antigen for detecting Mycobacterium tuberculosis in adults and children with or without HIV infection.

Clinical Laboratory

Even today, tuberculosis (TB) remains a leading public health problem; yet, the current diagnostic methods still have a few shortcomings. Lipoarabinomannan (LAM) provides an opportunity for TB diagnosis, and urine LAM detection seems to have a promising and widely applicable prospect.

Four databases were systematically searched for eligible studies, and the quality of the studies was evaluated using the quality assessment of diagnostic accuracy studies-2 (QUADAS-2). Graphs and tables were created to show sensitivity, specificity, likelihood ratios, diagnostic odds ratio (DOR), the area under the curve (AUC), and so on.

Based on the included 67 studies, the pooled sensitivity of urine LAM was 48% and specificity was 89%. In the subgroup analyses, the FujiLAM test had higher sensitivity (69%) and specificity (92%). Furthermore, among patients infected with human immunodeficiency virus (HIV), 50% of TB patients were diagnosed using a urine LAM test. Besides, the CD4+ cell count was inversely proportional to the sensitivity.

Urine LAM is a promising diagnostic test for TB, particularly using the FujiLAM in HIV-infected adults whose CD4+ cell count is ≤100 per μl. Besides, the urine LAM test shows various sensitivities and specificities in different subgroups in terms of age, HIV infection status, CD4+ cell count, and testing method.

Comparative analysis of anthropometric indices with serum uric acid in Iranian healthy population.

Clinical Laboratory

The relationship between elevated serum uric acid (SUA) levels and hypertension, metabolic syndrome and cardiovascular disease has been established. In this study, the relation of SUA levels to anthropometric indices, blood cell count and lipid profile was examined.

Anthropometric parameters including body-mass index, waist circumference, waist to height ratio, waist to hip ratio, waist to pelvic ratio, neck circumference (NC), body fat mass (BFM), basal metabolic rate (BMR), visceral fat level (VFL) and percent body fat (PBF), along with complete blood cell count, lipid profile and SUA were obtained from 2921 young and middle-aged Iranian healthy subjects. To assess the normality of data, the Kolmogorov-Smirnov test was used. Mann-Whitney, Kruskal-Wallis, Chi-square and Spearman correlation tests were used for evaluating the association between variables. Simple and multiple regression analyses were also performed.

The results of data analysis showed all studied factors were correlated with SUA level except VFL, BFM, and platelet-to-lymphocyte ratio. The highest correlation was with NC, BMR, hematocrits (HCT) and triglycerides (TG). The backward method revealed that TG, LDL, HDL, neutrophil, lymphocyte, platelet, HCT, BMR and skinfold fat thickness were factors related to SUA.

According to the finding of this study, SUA level is related to anthropometric indices, lipid profile and neutrophil to lymphocyte ratio in healthy population. SUA measurement might be advisable to identify those at increased risk of health problems whom might benefit from further evaluation.

A panel of three serum microRNA can be used as potential diagnostic biomarkers for nasopharyngeal carcinoma.

Clinical Laboratory

Nasopharyngeal carcinoma is cancer with unique epidemiological characteristics, showing obvious ethnicity, gender, and geographical prevalence. More and more evidence shows that microRNAs are stable in serum and are specific to different tumor types. Therefore, miRNA is a new non-invasive biomarker for cancer detection.

The experiment is divided into three stages, namely, the screening stage, the training stage, and the verification stage. We took 54 patients with nasopharyngeal carcinoma and 108 healthy controls as the research objects. We use the receiver-operating characteristic (ROC) curve and area under the ROC curve (AUC) to evaluate the diagnostic value of miRNA. Finally, a three-miRNA panel with high diagnostic efficiency was constructed. In addition, we conducted biological information analysis of these miRNAs to explore their functions.

In NPC patients, the expression of five serum miRNAs (miR-29c-3p, miR-143-5p, miR-150-5p, miR-145-3p, and miR-205-5p) is significantly dysregulated. Among them, the diagnostic value of these three miRNAs (miR-29c-3p, AUC = 0.702; miR-143-5p, AUC = 0.733; and miR-205-5p, AUC = 787) is more prominent. The diagnostic panel constructed by them has a higher diagnostic value (AUC = 0.902). Through the analysis of the TCGA data set, the target gene of the three-miRNA panel may be KLF7, NRG1, SH3BGRL2, and SYNPO2.

The three-miRNA panel (miR-29c-3p, miR-143-5p, and miR-205-5p) may become a novel non-invasive biological marker for nasopharyngeal cancer screening.

Significance of the lncRNAs MALAT1 and ANRIL in occurrence and development of glaucoma.

Clinical Laboratory

Primary open-angle glaucoma (POAG) is the commonest form of glaucoma which is estimated to cause bilaterally blind within 11.1 million people by 2020. Therefore, the primary objectives of this study were to investigate the clinical significance of single-nucleotide polymorphisms (SNPs) in the lncRNAs MALAT1 and ANRIL in a Chinese Han POAG cohort.

Three hundred and forty-six glaucoma patients and 263 healthy controls were recruited, and totally 14 SNPs in MALAT1 and ANRIL were genotyped between the two populations.

The MALAT1 SNPs rs619586 (A>G), rs3200401 (C>T), and rs664589 (C>G) were associated with POAG risk, and the ANRIL SNPs rs2383207 (A>G), rs564398 (A>G), rs2157719 (A>G), rs7865618 (G>A), and rs4977574 (A>G) were associated with POAG (p < 0.05). The MALAT1 haplotypes ACG and ATC, comprised rs619586, rs3200401, and rs664589, increased POAG risk, and the ANRIL haplotype AAGAA, made up of rs2383207, rs7865618, rs4977574, rs564398, and rs2157719, show a significantly increased risk of POAG. In addition, rs619586 (A>G) of MALAT1 and rs564398/rs2157719 of ANRIL were associated with a smaller vertical cup-to-disc ratio, while rs619586 of MALAT1 and rs2383207/rs4977574 of ANRIL were associated with higher intraocular pressure in the POAG population.

Single-nucleotide polymorphisms and haplotypes in ANRIL and MALAT1 were associated with POAG onset in our study population, which provide more possibilities to POAG diagnosis and treatment.

Clinical observation of low-dose combination chemotherapy in refractory/recurrent paroxysmal nocturnal hemoglobinuria patients: A single-center retrospective analysis.

Clinical Laboratory

We performed a retrospective analysis to investigate the clinical characteristics and therapeutic strategies of 20 refractory/recurrent PNH patients, including the clinical efficacy of chemotherapy treatment, safety, and survival.

The clinical data of 20 classic PNH patients who were refractory/recurrent or had glucocorticoid dependence in our hospital were analyzed, including clinical manifestations, laboratory examinations, treatment efficacy, and survival.

Seventeen patients had a marked improvement in anemia after chemotherapy, 14 patients acquired blood transfusion independence, and the Hb of 3 patients increased to normal levels. Although 6 patients still needed blood transfusion, the transfusion interval was significantly prolonged. The percentages of LDH, TBIL, and RET, which are indicators of hemolysis, were significantly lower than those before chemotherapy. The dosage of adrenal glucocorticoids was reduced by more than half compared with that before chemotherapy.

Chemotherapy can reduce PNH clones, promote normal hematopoiesis, and control hemolytic attack. It is a promising and widely used therapeutic method.

CircRNA casein kinase 1 gamma 1 (circ-CSNK1G1) plays carcinogenic effects in thyroid cancer by acting as miR-149-5p sponge and relieving the suppression of miR-149-5p on mitogen-activated protein kinase 1 (MAPK1).

Clinical Laboratory

The initiation and development of thyroid cancer may be associated with the deregulation of circular RNAs (circRNAs). The purpose of this work was to explore the role of circRNA casein kinase 1 gamma 1 (circ-CSNK1G1) in thyroid cancer.

The expression of circ-CSNK1G1, miR-149-5p, and mitogen-activated protein kinase 1 (MAPK1) was concluded using quantitative real-time PCR (qPCR), and the expression of MAPK1 protein was detected by Western blot assay. Cell viability was monitored by CCK-8 assay. Cell proliferation was determined by colony formation assay and EdU assay. Cell apoptosis and cycle were checked by flow cytometry assay. Cell invasion was determined by transwell assay. The predicted binding relationship between miR-149-5p and circ-CSNK1G1 or MAPK1 was verified by dual-luciferase reporter assay. The role of circ-CSNK1G1 in vivo was determined by establishing animal models.

The present work discovered the upregulation of circ-CSNK1G1 in tumor tissues of thyroid cancer. In function, circ-CSNK1G1 knockdown inhibited proliferation, survival, and invasion in cancer cells, and tumor growth in mouse models. MiR-149-5p was a target of circ-CSNK1G1, and the anti-tumor effects of circ-CSNK1G1 knockdown were abolished by miR-149-5p downregulation. In addition, miR-149-5p directly targeted MAPK1, and miR-149-5p restoration-inhibited cell proliferation and invasion were recovered by MAPK1 overexpression.

Circ-CSNK1G1 acted as miR-149-5p to relieve the inhibition of miR-149-5p on MAPK1, thus promoting the malignant development of thyroid cancer.

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.

Clinical Laboratory

Intellectual disability (ID) is a heterogeneous group of neurodevelopmental disorders that is characterized by significant impairment in intellectual and adaptive functioning with onset during the developmental period. Whole-exome sequencing (WES)-based studies in the consanguineous families with individuals affected with ID have shown a high burden of relevant variants. So far, over 700 genes have been reported in syndromic and non-syndromic ID. However, genetic causes in more than 50% of ID patients still remain unclear.

Whole-exome sequencing was applied for investigation of various variants of ID, then Sanger sequencing and in silico analysis in ten patients from five Iranian consanguineous families diagnosed with autosomal recessive neurodevelopmental disorders, intellectual disability, performed for confirming the causative mutation within the probands. The most patients presented moderate-to-severe intellectual disability, developmental delay, seizure, speech problem, high level of lactate, and onset before 10 years.

Filtering the data identified by WES, two novel homozygous missense variants in FBXO31 and TIMM50 genes and one previously reported mutation in the CEP290 gene in the probands were found. Sanger sequencing confirmed the homozygote variant's presence of TIMM50 and FBXO31 genes in six patients and two affected siblings in their respective families. Our computational results predicted that the variants are located in the conserved regions across different species and have the impacts on the protein stability.

Hence, we provide evidence for the pathogenicity of two novel variants in the patients which will expand our knowledge about potential mutation involved in the heterogeneous disease.

A comprehensive profiling of soluble immune checkpoints from the sera of patients with non-small cell lung cancer.

Clinical Laboratory

Immunotherapy was widely used for the treatment of non-small cell lung cancer (NSCLC). However, whether inhibition of immune checkpoints individually or simultaneously could improve the therapeutic efficacy of NSCLC remains to be investigated. Here, we explored the aberrant levels of several checkpoints and evaluated their potential diagnostic values for NSCLC.

Serum samples of 89 NSCLC patients and 57 healthy donors were collected from Nanjing Drum Tower Hospital between November 2019 and July 2020. Fourteen human immune checkpoints were quantified by Procarta-Plex Human Immuno-Oncology Checkpoint Panel.

The expression levels of sTIM-3, sCD137, sCD27, sLAG-3, sIDO, sPD-L2, sCD152, sCD80, and sPD-1 were all significantly increased in serum of NSCLC patients. Especially, sLAG-3 was significantly elevated in serum of NSCLC patients at early-stage (stages I and II), TIM-3, CD137, and CD27 were significantly higher in the advanced NSCLC patients (stages III and IV) than in the early-stage groups. Receiver operating characteristics (ROC) results showed that except for PD-1, all the other immune checkpoint proteins had potential diagnostic values for NSCLC. sTIM-3 had the highest diagnostic accuracy, followed by sLAG-3. Combining sTIM-3, sLAG-3, and sCD137 could increase the accuracy to a higher level. Moreover, sCD27 was correlated with NSCLC cancer type, age, sex, and disease stage, while sCD137 was correlated with age and disease stage. sTIM-3 and sIDO were correlated with stage and age, respectively.

TIM-3 and LAG-3 were independent biomarkers for the early diagnosis of NSCLC. The combination of TIM-3, LAG-3, and CD137 could increase the diagnostic accuracy.