Laboratory medicine最新文献

Background: The United States notoriously has one of the highest rates of incarceration in the world, yet scant attention to the health care needs of those incarcerated exists within laboratory medicine and pathology training and education. This article explores health disparities among incarcerated and released individuals regarding diagnostic laboratory testing and pathology services.

Methods: A literature search was conducted for articles published between 2002 and 2023 using keywords including "healthcare," "incarcerated," "laboratory services," "pathology services," and "health insurance for prisoners." Central themes were extracted and discussed to reveal the realities of health care during and after release from incarceration. Excluded from the analysis were articles about the immediate or extended family of incarcerated persons.

Results: Incarcerated individuals have an increased risk for the development and exacerbation of communicable and noncommunicable diseases and mental health disorders, which results in exceedingly high morbidity and mortality rates.

Conclusion: Policy changes are needed to mitigate disparities and improve health outcomes for incarcerated and released persons. Central to these disparities is decreased access to laboratory and pathology services, impeded by inadequate health care funding for these carceral institutions. Providing additional funding to the carceral system's health care budget is necessary to improve access to pathology and laboratory services.

Background: JAK2 mutation plays a clinically significant role in the pathogenesis of acute lymphoblastic leukemia (ALL) by enhancing its oncogenicity. The study aimed to characterize the molecular pathology and computational profile of the JAK2 mutation in an ALL cohort of Pakistani origin.

Methods: Ninety-three patients were enrolled in the current study. The disease diagnosis was confirmed via flow cytometry and karyotyping of bone marrow aspirate/blood. For the identification of causative gene variations and assessment of their potential impact, the JAK2 gene underwent direct sequencing and predictive computational and in silico structural analysis, respectively.

Results: JAK2 mutations were detected in 10 (11%) patients. All mutations were missense with 1 being frameshift. Most mutations showed a similar pattern to the wild type but p.N673H+p.V674L+p.C675W (AAD699), p.V674F (AAD704), and p.V674L (AAD705) exhibited statistically significant stability loss. The triple mutation displayed reduced stability both globally and locally.

Conclusion: The pattern of gene defects in JAK2 in the studied cohort showed a disruption in proper folding behavior, evident from increased gyration values, resulting in the hypothesis that these mutations may cause structural alterations in the JAK2 protein that lead to disease progression.

Objective: Pathological tumor (pT) staging plays a crucial role in prostate cancer (PCa) diagnosis. This study aimed to identify pT stage-associated biomarkers and explored their utility in PCa prognosis.

Methods: GSE69223 was used to identify potential targets differentially expressed between level 2 of pT staging (pT2) and level 3 of pT staging (pT3). Quantitative reverse transcriptase-polymerase chain reaction and immunohistochemistry were performed on tissues from patients with PCa to screen the pT stage-associated targets and to explore the prognostic value of these targets in PCa.

Results: CENPI and SLC38A11 were most significantly upregulated, whereas ANO6 and KANK2 were mostly decreased in pT3 tumors compared with pT2 staging. ANO6 levels were negatively associated with preoperative prostate-specific antigen (PSA) levels, lymph node staging (N staging), Gleason score, and overall survival (OS); CENPI was positively associated with preoperative PSA levels, N staging, and OS, but was not associated with the Gleason score; SLC38A11 and KANK2 were not associated with OS. ANO6 and KANK2 were correlated with neutrophil markers, whereas CENPI was correlated with macrophage M2 types.

Conclusion: We identified 4 reliable PCa biomarkers associated with pT staging that would be valuable for diagnosing and determining PCa prognosis.

Objectives: Genetic predisposition plays a role in the etiology of metabolic syndrome (MetS), an important health problem worldwide. Leptin (LEP), produced by adipose tissue, plays a crucial role in the development of MetS. In this study, we evaluated the effects of LEP and LEP receptor (LEPR) variants on clinical findings and risk of developing MetS in the Turkish population.

Methods: A total of 320 patients were included in the study, of whom 150 were patients with MetS and 170 were healthy controls. DNA was extracted from blood samples. LEP rs7799039 and LEPR rs1137101 variants were genotyped using the polymerase chain reaction-based restriction fragment length polymorphism method. The genotype distributions of these variants and clinical and laboratory findings were compared.

Results: The LEP rs7799039 GA and AA genotypes and A allele frequencies were higher in participants with MetS than in the control group. For LEP rs7799039, the genotype AA-GA was higher in males, and the GG genotype was higher in females. On analyzing the clinical outcomes associated with these variants, it was observed that individuals possessing LEP rs7799039 GA and AA genotypes displayed elevated levels of triglycerides. In addition, those with the AG-GG genotype of LEPR rs1137101 had lower mean hemoglobin levels.

Conclusion: Our results showed that the LEP rs7799039 and LEPR rs1137101 variants may be associated with both the risk of MetS development and clinical findings. Among the various contributors to MetS, a genetic predisposition is commonly recognized as the primary cause.

Background: Due to the ability of metal ions to cross the blood-brain barrier, there has been interest in analyzing cerebrospinal fluid (CSF) for trace element concentrations to investigate possible correlations with neurodegenerative diseases. In this study, Sarstedt polypropylene CSF collection tubes were analyzed to determine the contamination levels of aluminum, titanium, chromium, manganese, cobalt, nickel, molybdenum, gadolinium, vanadium, arsenic, cadmium, mercury, lead, thallium, selenium, copper, zinc, and iron.

Methods: Sarstedt polypropylene CSF collection tubes from 2 separate lots (n = 10 per lot) were filled with a 2 mL aliquot of a CSF pool with known element concentrations. After 24 hours of leaching at room temperature, all 18 elements were analyzed via inductively coupled plasma mass spectrometry (ICP-MS). Results were subtracted from the initial pool concentration to determine contamination levels.

Results: No detectable contamination above the assay limit of detection was found in 11 analytes. Molybdenum and selenium contamination was measured in all tubes, and aluminum, titanium, manganese, thallium, and zinc had minimal levels of sporadic detectable contamination in 25% or fewer of the tubes tested.

Conclusions: Sarstedt polypropylene CSF tubes are an acceptable collection tube for the analysis of most assessed metals in CSF.

Background: Interleukin-6 (IL-6) is a proinflammatory cytokine that is associated with many inflammatory diseases. This validation study evaluates the automated Roche Elecsys IL-6 electrochemiluminescent immunoassay that has been granted emergency use authorization by the US Food and Drug Administration.

Methods: The Elecsys IL-6 assay was evaluated for precision, linearity, interference (by hemoglobin, bilirubin, triglycerides, and biotin) and clinical performance was compared to the V-PLEX Human IL-6 immunoassay (Meso Scale Discovery), performed by a reference laboratory.

Results: The Elecsys IL-6 assay is precise (intra-assay <3% coefficient of variation [CV], interassay <5% CV), exhibits an analytical measurable range of 1.5-4790 pg/mL, and is tolerant of significant interferences (H < 2522, I <62, L<2101, biotin <50 ng/mL). Comparison with the V-PLEX assay revealed a 2.95 slope bias in patient samples evaluated for IL-6 concentration (n = 43, range = 1.5-1891 pg/mL, y = 2.95x - 32.7, r2 = 0.84). Bland-Altman analysis revealed an absolute mean bias of 152 pg/mL (SD = 254 pg/mL), or a mean percentage difference of 73%.

Conclusion: The Roche IL-6 assay showed good analytical performance. The large systematic bias compared with another reference method precludes using multiple methods to monitor IL-6 response. The random-access nature of an automated IL-6 assay on the Roche platform makes the test available on demand.

We report on a male patient who was investigated for frequent apneic episodes, feeding problems, hypotonia, and left-sided middle cerebral artery infarction in the magnetic resonance imaging at 2 weeks of age. Primary diagnosis of dihydropyrimidinase (DPYS) deficiency was suspected following the analysis of urine for organic acid; DPYS deficiency was strongly suggested by the presence of dihydrouracil, thymine, and uracil. Subsequent genetic evaluation by whole exome sequencing revealed 2 separate mutations, homozygous pathogenic variant c.1010T>C p.Leu337Pro of the DPYS gene, resulting in DPYS deficiency, and homozygous pathogenic variant c.535C>T p.Arg179* of TBX19 gene, which is associated with autosomal recessive congenital isolated adrenocorticotrophic hormone deficiency. Currently, the patient is 2 years old, and he has gross motor retardation and seizure disorder. We suggest that the clinical phenotype of the proband can be a result of mixed expression of both mutations.

Background: The presence of some red blood cell (RBC) antigens may affect the preference for using type O blood in emergency situations because they may induce complex or multiple alloimmunization in special circumstances.

Methods: A subgroup of 77 type O blood Tunisian donors were genotyped for 19 common blood alleles using the single specific primer-polymerase chain reaction method. The statistical analysis was done using HaploView software.

Results: The study showed the dominance of the alleles RH*5, KEL*2, FY*2, and CO*1 and the absence of the homozygous state of the KEL*1 and CO*2 alleles. Furthermore, a complete linkage disequilibrium between the RH*2/RH*4 and RH*3/RH*5 loci and the FY*Null/FY*Exp and FY*A/FY*B loci was detected. Additionally, it seems that sensitization to MNS:3, FY:1, and RH:3 may constitute a potential factor for alloimmunization after transfusion with O blood type units: the probabilities of simple alloimmunizations are 24.5 per 100, 18.5 per 100, and 18 per 100, respectively. Multiple alloimmunization against RH:1;KEL:1 or RH:1;KEL:1;RH:3 phenotypes may occur, with probabilities of 7 per 1000 and 2 per 1000, respectively.

Conclusion: Some O-type RBC units may contain blood with very immunogenic phenotypes, the use of which in an emergency requires great caution because it can be a step towards subsequent alloimmunization.

Introduction: Laboratories use their performance in external quality assurance (EQA) to establish quality planning strategies and to assess whether testing processes require improvement.

Methods: The EQA performance of the hematology and coagulation test parameters on the Royal College of Pathologists of Australasia EQA program was evaluated over a 4-year cycle at an academic hospital in Johannesburg, South Africa. The test performance was determined from analytical quality specification (APS) and/or z-scores. Bias and imprecision were used to calculate sigma (σ) metric scores. Specifications from European Federation of Laboratory Medicine and/or biological variation were applied.

Results: The laboratory achieved a mean testing score of 98.7 ± 4.0%. There were 103 (10.7%) unacceptable results. On investigation, root causes included: presurvey issues (83%), transcription errors (9%), random errors (6%), and test performance errors (3%). All test parameters evaluated achieved an acceptable median APS during the study period. The mean z-scores, however, were >2 and unacceptable for mean cell hemoglobin concentration and hematocrit. On investigation, this was attributed to significant delay in transport and storage of full blood count samples. White cell count and d-dimer achieved a σ ≥ 6.

Conclusion: EQA participation assisted the laboratory in maintaining a quality system. Close monitoring is necessary for international laboratories to avoid sample delays that can affect result quality.

Dysphagia is a common gastrointestinal complaint in the pediatric population and should raise concern for oropharyngeal as well as esophageal disorders. We describe a 7-year old patient who was admitted to the hospital for sudden onset dysphagia, abdominal pain, and decreased oral intake. Extensive evaluations including endoscopy eventually revealed herpes simplex esophagitis as well as eosinophilic esophagitis. Herpes simplex esophagitis is a rare condition in the immunocompetent population and is typically self-resolving. Eosinophilic esophagitis is a chronic, inflammatory condition characterized by esophageal eosinophilia and signs of esophageal dysfunction. The concurrent presentation of both conditions in the pediatric population has rarely been described.