Laboratory Medicine

Duzan, Dana; Fong, Karen; Freeman, Vicki S; Goodyear, Nancy; Nadder, Teresa S; Spiczka, Amy; Taff, Teresa; Tanabe, Patricia

doi: 10.1093/labmed/lmad110pmid: 38142427

ObjectiveStudents in health profession education programs were severely affected by the COVID-19 pandemic at both didactic and clinical training levels. The purpose for this American Society for Clinical Pathology Board of Certification (ASCP BOC) study was to determine the impact of the COVID-19 pandemic on graduates. This study represents the perspectives of laboratory professional graduates who sat for the BOC certification in their respective professional disciplines.MethodsA survey was sent to all graduates from the National Accrediting Agency for Clinical Laboratory Science (NAACLS), Accrediting Bureau of Health Education Schools (ABHES), and Commission on Accreditation of Allied Health Education Programs (CAAHEP) accredited programs who sat for the ASCP BOC examination in 2020 and 2021 to determine the impact of COVID-19 on laboratory professional graduates during the pandemic.ResultsA total of 180 graduates responded to the survey. The majority of graduates indicated that at least 1 didactic program component was shifted to an online system during the pandemic and that both clinical and nonclinical student laboratories were affected. Although program completion for most graduates was not delayed, one-third of graduates delayed taking their respective BOC exam. Due to the lack of knowledge application through practical hands-on laboratory experience in their educational programs, graduates reported feeling a lack of readiness with regards to preparing for the national certification examination as well as for employment.ConclusionThe study results showed the pandemic greatly impacted the education experience and readiness for the ASCP BOC examinations for graduates. Factors such as the absence of in-person learning and hands-on experience—both crucial aspects in laboratory training—and the ripple effects as a result of the pandemic, such as job loss, financial constraints, and health concerns, contributed to the decreased quality of education for graduates.

Sun, Wanying; Zhou, Changming; Peng, Caiqiu; Yang, Ran; Li, Mengting; Geng, Jian; Zhou, Jihong; Chen, Liang; Li, Wei

doi: 10.1093/labmed/lmad101pmid: 38048812

BackgroundPlasma circular (circ)RNAs detected by droplet digital polymerase chain reaction (ddPCR) may be ideal markers for liquid biopsy. However, ddPCR detection of circRNAs in plasma for diagnosis of lung adenocarcinoma has been rarely reported.MethodsAn RNA sequencing analysis was performed in plasma from patients with early lung adenocarcinoma and healthy individuals. Droplet digital PCR was used to verify the differentially expressed genes.ResultsThe copy numbers of circle RNALZIC (circLZIC)and circle RNACEP350 (circCEP350) in the plasma of lung adenocarcinoma patients were significantly higher than in plasma of healthy people, and the copy numbers in postoperative plasma of the same patients were significantly lower than those in preoperative plasma. CircLZIC and circCEP350 alone and in combination had diagnostic value in lung adenocarcinoma and early lung adenocarcinoma. CircLZIC and circCEP350 had more binding sites with multiple microRNAs. Their target genes were enriched in several signaling pathways.ConclusionThe copy numbers of circLZIC and circCEP350 were higher in plasma of lung adenocarcinoma patients than in plasma of healthy controls, significantly correlated with tumor size and TNM stage, and closely related to the occurrence and development of tumors. These circRNAs may serve as molecular markers for the diagnosis of lung adenocarcinoma.

Ghozzi, Mariam; Mankai, Amani; Melayah, Sarra; Mechi, Fatma; Chedly, Zeineb; Trabelsi, Abdelhalim; Ghedira, Ibtissem

doi: 10.1093/labmed/lmad100pmid: 38035768

BackgroundHashimoto’s thyroiditis (HT) is an autoimmune disease that is frequently associated with other autoimmune conditions.ObjectiveTo perform serological screening for rheumatoid arthritis (RA) in patients with HT.MethodsOur study included 88 consecutive serum specimens of patients with confirmed HT and 88 sex- and age-matched healthy subjects. All study participants were tested for anti-cyclic citrullinated peptides antibodies (CCP-Ab) and rheumatoid factor (RF). CCP-Ab and RF were performed using ELISA commercial kits. Statistical analysis was conducted using Epi Info, version 3.ResultsOut of 88 patients with HT, 15 (17.0%) had CCP-Ab or RF. The frequency of serological markers of RA was significantly higher in patients than in control individuals (17.0% vs 4.5%; P = .007). RF was more frequent in patients than in the control group, and the difference was statistically significant (13.6% vs 3.4%; P = .01). Isolated RF-IgM was absent in all controls and present in 6 patients with HT (6.8% vs 0%; P = .02). Out of 14 male patients, 3 (21.4%) had antibodies of RA. There was no significant difference in age between patients with CCP-Ab or RF and those without.ConclusionA high frequency of serological markers of RA was highlighted in patients with HT.

Mundt, Lillian

doi: 10.1093/labmed/lmad105pmid: 38156747

ObjectiveTo compare platelet count results of specimens that yield platelet clump flags to platelet count results on these specimens after vortexing.MethodSpecimens that generated platelet count flags on Sysmex XN 3000 instruments were vortexed and rerun. Only data from specimens demonstrating elimination of platelet clump flags were used in this study. Pearson r analysis was performed on data.ResultsComparison of complete blood count results (white blood cell count, red blood cell count, hemoglobin, hematocrit, and platelet count) all yielded Pearson r scores >0.9.ConclusionAdditional patient comfort and safety concerns, as well as concerns over additional specimen collection and processing costs, may be avoided by vortexing and rerunning specimens flagged for platelet clumps when the platelet count is normal.

Sena Odabasi, Merve; Yalcinkaya Kara, Zeynep Mine

doi: 10.1093/labmed/lmad108pmid: 38104249

BackgroundRejected samples lead to prolonged turnaround time and delayed diagnosis and treatment of patients. This study was conducted to determine minimum acceptable sample volume in Sarstedt brand coagulation tubes to reduce high sample rejection rate.MethodsBlood samples were drawn from 20 participants (10 healthy volunteers and 10 patients receiving oral anticoagulant) into coagulation tubes. Six samples were taken from each participant, with tube fill volumes of 100%, 90%, 80%, 70%, 60%, and 50%. Prothrombin time (PT), active partial thromboplastin time (aPTT), and fibrinogen tests were analyzed.ResultsAccording to quality performance specifications, the tube fill volume must be at least 70% for PT and aPTT and 50% for fibrinogen. There was no statistical difference in samples from healthy volunteers for PT, aPTT, and fibrinogen tests when the minimum tube fill volume was at least 80%, 90%, and 50%, respectively. These percentages were 50%, 70%, and 60%, respectively, in patients receiving oral anticoagulant.ConclusionsSarstedt tubes meet quality standard specifications at a 70% fill rate for PT and aPTT and a 50% fill rate for fibrinogen. Comprehensive studies with larger populations are needed to accept these values as sample acceptance criteria for the laboratory.

Sadeghipour, Parham; Valuian, Marzieh; Ghasemi, Serwa; Rafiee, Farnaz; Pourirahim, Maryam; Mahmoodian, Mehran; Maleki, Majid; Kalayinia, Samira

doi: 10.1093/labmed/lmad109pmid: 38113391

BackgroundThoracic aortic aneurysm (TAA) is a multifactorial disorder. Familial TAA, which is more clinically aggressive, is associated with a high risk of lethal dissection or rupture. Genetic evaluation can provide TAA patients with personalized treatment and help in predicting risk to family members.ObjectiveThe purpose of this investigation was to report a likely pathogenic variant in the EFEMP2 gene that may contribute to TAA in a family with a documented history of the condition.MethodsIn the index patient, the causative genetic predisposition was identified using whole-exome sequencing. The potential likely pathogenic effect of the candidate variant was further analyzed through bioinformatics analysis, homology modeling, and molecular docking.ResultsThe results revealed a likely pathogenic heterozygous variant, c.247C>T p.Arg83Cys, in exon 4 of the EFEMP2 gene (NM_016938), which was predicted to have disease-causing effects by MutationTaster, PROVEAN, SIFT, and CADD (phred score = 27.6).ConclusionIn this study, a likely pathogenic variant in the EFEMP2 gene was identified in an Iranian family with a dominant pattern of autosomal inheritance of TAA. This finding underscores the importance of conducting molecular genetic evaluations in families with nonsyndromic TAA and the significance of early detection of at-risk family members.

Jia, Zhongwei; Xia, Jinxing; Lu, Qiong

doi: 10.1093/labmed/lmad104pmid: 38141202

BackgroundA substantial number of patients with multiple myeloma (MM) who have bone destruction are initially admitted into the orthopedic service at the hospital. However, routine laboratory testing usually fails to identify these patients, thus delaying optimal therapy. Therefore, there is a clear medical need for early diagnosis of MM in these patients.MethodsBetween 2019 and 2021, 42 patients receiving treatment for orthopedic conditions had normal hemoglobin (Hb), total protein (TP), albumin (ALB), creatinine (CREA), and blood calcium (Ca) levels before their surgical procedure(s) but were subsequently pathologically confirmed to have MM, based on their presenting orthopedic symptoms. During the same period, 52 patients with orthopedic conditions were pathologically excluded from the diagnosis of MM and were recruited into our control group. Serum free light chain (sFLC) testing was performed in 94 consecutive patients in the orthopedic service using Siemens N Latex FLC kits. The levels of Hb, TP, ALB, CREA, and Ca were also measured. All 42 patients with MM were divided into group A (n = 25: κ proliferation) and group B (n = 17: λ proliferation) by the pathology department.ResultsThere were no significant differences in levels of Hb, TP, ALB, CREA, and Ca between group A and group B and the control group. However, the sFLC κ/λ ratio of group A and B was also significantly different from that of the control group (P < .001). The results of serum immunofixation electrophoresis (IFE) testing demonstrated negative results in 14 cases (58.3%) in group A and 4 cases (25.0%) in group B.ConclusionsSome patients with orthopedic conditions who do not have typical MM laboratory results, such as those with abnormal Hb, TP, ALB, CREA, and Ca levels before their operation(s), actually have MM. MM should be highly suspected in patients with unexplained bone lesions and with an abnormal sFLC κ/λ ratio. Further tissue or bone marrow biopsy is needed in these patients even if serum and urine IFE results are negative and light chain ratio is normal.

Mohammadi Zaniani, Zohreh; Zeinalian, Mehrdad; Tabatabaiefar, Mohammad Amin

doi: 10.1093/labmed/lmad098pmid: 38007399

BackgroundNonmedullary thyroid cancer (NMTC) comprises approximately 90% of all thyroid cancers, and about 3% to 9% of NMTC cases have a familial origin. Familial NMTC (FNMTC) in the absence of a documented familial cancer syndrome such as Cowden syndrome is characterized by the occurrence of thyroid cancer of follicular cell origin in 2 or more first-degree relatives.MethodsWhole-exome sequencing (WES) was used to identify pathogenic genetic variants in 2 Persian families with FNMTC. The purpose of this work is to assess the pathogenic status of these variants as well as the cosegregation status of the variants observed in the examined families.ResultsBy analyzing WES data in the first family, SRGAP1: NM_020762: exon16: c.C1849T was identified as a pathogenic variant. This variant was confirmed by Sanger sequencing. In the second family, the variant FOXE1: NM_004473: exon1: c.531_532insCGCGA was identified but was not confirmed by Sanger sequencing.ConclusionBased on the data, SRGAP1 can be a potential candidate gene for susceptibility to FNMTC in the first family. However, additional analyses like whole genome sequencing and copy number variations are required to ascertain the disease status in second family.

Burke, Olivia; Jacobs, Jeremy W; Tormey, Christopher A; Rinder, Henry M; Figueroa Villalba, Cristina A; Lee, Edward S; Silva Campos, Juan J; Abels, Elizabeth; Yurtsever, Nalan

doi: 10.1093/labmed/lmad107pmid: 38142129