Laboratory medicine最新文献

Primary aldosteronism (PA) and diabetes mellitus (DM) may coexist. We previously found that DM and impaired glucose tolerance (IGT) may decrease the efficiency of the aldosterone-to-renin ratio (ARR) for screening PA. Thus, we wanted to determine appropriate ARR cut-off values for screening PA in patients with hypertension with DM and IGT. Data from 736 patients with hypertension were collected. They were divided into PA (77 cases), PA with DM (27 cases), PA with IGT (44 cases), hypertension without PA (353 cases), hypertension with DM (without PA, 127 cases), and hypertension with IGT (without PA, 108 cases). Receiver operating characteristic (ROC) curves were used to identify the appropriate ARR cut-off values in different conditions. Screening efficiencies of these cut-off values were evaluated across different groups. ARR cut-off values for screening PA in hypertensive patients without DM and IGT, with DM, and with IGT were 29.65, 23.15, and 26.9, respectively. All cut-off values demonstrated high sensitivity and specificity: 92.2% and 88.7%, 92.6% and 79.5%, and 88.6% and 85.2%, respectively, and areas under the ROC curves were 0.941, 0.904, and 0.909, respectively. Our results suggest that extra ARR cut-off values may be necessary for effective screening PA in hypertensive patients with DM and IGT, particularly in those with DM.

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.

Objective: This study aimed to develop and validate a novel nomogram for diagnosing gastric cancer (GC).

Methods: In this prospective analysis, 146 patients of Wenzhou Central Hospital were recruited for a GC group and a benign lesion group and were divided into a training set and an internal validation set in a ratio of 7:3. Clinical and analytical characteristics were collected and analyzed by logistic regression analysis. The performance of the predictive model was evaluated using the receiver operating characteristic curve, calibration curve, and decision curve analysis.

Results: There were 5 variables, namely albumin, carcinoembryonic antigen, carbohydrate antigen 125, creatinine, and small proline-rich protein 2A, that were identified as the final parameters for the developed model. In the training and internal validation sets, the area under the curve of the model was 0.968 and 0.979, respectively, showing good diagnostic performance.

Conclusion: This study developed and validated a new nomogram based on 5 parameters. This model shows good diagnostic performance in distinguishing GC from benign lesion groups and has certain significance in clinical application.

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.

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.

Hyperviscosity syndrome (HVS) is defined as the symptomatic presentation of increased blood thickness due to various clinical conditions such as hypergammaglobulinemia. HVS secondary to immunoglobulin (Ig)A multiple myeloma has been infrequently reported. Although the efficiency of IgM or IgG removal by therapeutic plasma exchange (TPE) is well described, the efficiency of IgA removal by TPE is not as well known. Here, we describe a case of HVS due to IgA myeloma in a patient who received 2 TPE treatments, with subsequent symptomatic improvement as well as decrease in IgA and viscosity levels.

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.

This case report describes a patient with a medical history of schizophrenia, found in a coma with hyperthermia, likely due to classic heatstroke. The white blood cells observed on the blood smear showed cytological abnormalities characterized by multilobed nuclei, which could be early signs of cell death. The evolution into multiorgan failure led rapidly to death.