Archives of Medical Laboratory Sciences
Volume:5 Issue: 4, Fall 2019

Severe combined immunodeficiency (SCID) has been described as the most severe form of primary immunodeficiency disorders (PID). The disease can be caused by mutations in more than 20 different genes with prevalence of 1 in 50000 to 100000 live births. In the present study, we described the protein domain position of variants in 14 main genes in patients with SCID. We also aimed to investigate the correlation between the variant distribution of protein domains and its pathogenicity and clinical outcome of the variant.

Molecular genetic analysis including Sanger sequencing, targeted gene panel and whole exome sequencing were performed on 50 patients with SCID. Moreover, protein domains characteristics were extracted from different databases such as Uniprot and PDB and the reported mutations were obtained from HGMD and ENSEMBL databases.

Our results showed that the mortality rate had a significant correlation with severity of clinical manifestations in the patients (p-value=0.000). There was also a significant relationship between the protein type and mutation severity (p-value=0.001) and severity of clinical manifestations (p-value=0.025). However, there was no significant relationship between the mortality rate and occurrence of mutations in different domains of proteins (p-value=0.304) and the severity of mutations (p-value= 0.586).

In severe genetic diseases such as SCID, mutations in related genes have affected the structure of the protein enough to cause severe symptoms. However, there are differences in the pathogenicity of the mutations based on their location on the protein domains. In order to determine these variations and predict the outcome of mutations, it is necessary to use in silico and laboratory methods along with statistical and data mining tools to track these minor differences

Neonatal jaundice affects one of two newborns around the Worldand occurs when a baby has a high level of bilirubin in the blood. In recent decades, the cesarean section has increased, accompanied by higher neonatal jaundice risks compared with vaginal delivery. This study aimed to investigate the relationship between the jaundice severity and the delivery type and gender among newborns referred toa Qamar Bani Hashem HospitalinKhoy city(WestAzerbaijan Province, Iran).

In this cross-sectional study, we investigated randomly 309 newborns with asymptomatic jaundice, who referred to the hospital, from 2014 to 2018. The results of laboratory tests were recorded for all participatinginfants.

49.19% of newborns with jaundice were born by cesarean section, and 49.19% were born by vaginal delivery. 141 (45.63%) of babies with jaundice were males, and 168 (54.37%) were females. Mean blood sugar (BS) (p=0.52), urea (p=0.48), creatinine(Cr) (p=0.69), Na (p=0.46), K (p=0.69), Ca (p=0.29), TB (p=0.58) and neonatal weight (p=0.14) within days 3 to 10 were not significantly different between vaginal delivery group and cesarean section group (p>0.05), while direct bilirubin showed significant variations (p<0.05). Mean serum direct bilirubin was 0.22±0.07 mg/dLin the normal vaginal delivery group and 0.25±0.09 mg/dLin the cesarean section group (p<0.05). Also, the level of K (P=0.04) was significantly higher in the male group compared to the female group.

Based on our study, there is no significant relationship between the severity of jaundice and the type of delivery and gender in newborns.

Sugar and Lipid disorders are the main risk factors for vascular abnormalities. Due to the gender and age, other variables can influence serum Fasting blood sugar and lipid levels, certifying the determination of population-specific reference interval. This study was designed to investigate the age-and gender-specific reference values for serum Fasting blood sugar (FBS), triglycerides (TG), total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein-cholesterol (HDL) in healthy Babolianadults.

FBS, TC, TG, and HDL were calculating applying the colorimetric method. The Friedewald equation (LDL=TC−HDL−TG/5) was used to calculate LDL concentrations in individuals. After using the exclusion parameters, 519 participants (199 men and 320 women) aged ≥23 years were included. The Clinical Chemistry guidelines of the International Federation applied for characterizing the reference values for samples.

Reference values for serum FBS, TG, TC, LDL, HDL were 77.01-107.69 mg/dL, 35.34-204.38 mg/dL, 117.97-242.81 mg/dL, 47.6-137.16 mg/dLand 33.29-67.13 mg/dLin men. In women, reference values for serum FBS, TG, TC, LDL, HDL were 75.03-107.99, 27.49-192.33 mg/dL, 125.84-244.32 mg/dL, 44.08-139.48 mg/dLand 36.66-81.1 mg/dL. FBS, TG, and LDL parameters were higher in men, and TC and HDL parameters were higher in women.

Reference values for serum FBS, TC, TG, LDL, HDL in healthy Babolianadults were specified, and these data could supply a clear pathway for better decision making in both clinical settings and prevention

Transfection of DNA/RNA sequence into eukaryotic cells has a major effect on scientific studies. Various methods are used to transfer the DNA/RNA sequence into cells, such as lipid-based carriers as the available and easy procedure. Transfection with cationic lipid liposome is introduced as a simple and efficient procedure for monitoring the DNA/RNA sequence through gene function analysis, including fluorescence imaging RNA and protein expression.This study aimed to investigate the transfection efficiency and cell death through GFP expression in human esophageal squamous cell carcinoma (ESCC) cell line KYSE-30 using Lipofectamine 3000 reagent.

The pCDH-513b plasmid DNA was transfected into KYSE-30 cells using Lipofectamine 3000 in different concentrations of the plasmid DNA and reagent. The transfection efficiency was evaluated by fluorescence microscope and flow cytometry analysis to determine the percentage of GFP-expressingcells. Moreover, the viability and death of transfected KYSE-30 cells were evaluated using a trypan blue exclusion assay.

The transfection efficiency of KYSE-30 with Lipofectamine 3000 was increased with higher plasmid DNA concentration and a lower amount of Lipofectamine 3000 reagent. The Optimized concentration of 1.5μg plasmid DNA and volume of one μl of lipofectamine 3000 reagentswere identified for 95% transfection efficiency in the KYSE-30 cell line. The viability and death of transfected cells were43% and 58% after transfection, respectively.

The results indicated that Lipofectamine 3000 might not be suitable for transfection in KYSE-30 cells due to increased cell death

Severe left ventricular dysfunction patients with ejection fraction≤30% are at a higher risk for complications and mortality than patients with ejection fraction>30%. The death of cardio-myocytes at injured regions leads to myocardium dysfunction. Bone marrow-derived mesenchymal stem cells are undifferentiated cells that have been used for the regeneration of damaged cardio-myocytes. Due to the inherent capability of mesenchymal stem cells to improve cardiac functions, in this research, our objective was to explore the possible association of the mesenchymal stem cells proliferation rate with Coronary Artery Bypass Grafting outcomes in patients with severe left ventricular dysfunction after off-pump Coronary Artery Bypass Grafting.

For investigating the possible association of mesenchymal stem cells proliferation with Coronary Artery Bypass Grafting outcomes (ejection fraction, hypertension risk, and the time of hospital stay), we collected bone marrow samples from 30 patients (18men and 12women) who underwent off-pump Coronary Artery Bypass Grafting at Afshar Hospital and Seyed Al-Shohada Hospital(Yazd, Iran). Mesenchymal stem cells were isolated and cultured; then, cells were counted after 4, 7, and 14 days using trypan-blue color, and doubling times were calculated.

There was an association between doubling time and ejection fraction after surgery. Ejection fraction in postoperative patients increased, but this association was not significant. Also, our study showed that the risk of hypertension is equal in male and female patients. There were no significant differences in mesenchymal stem cells doubling time with hypertension and the time of hospital stay in the ICU.

Based on this study, we concluded that there was no significant relationship between the rate of mesenchymal stem cell proliferation and Coronary Artery Bypass Grafting outcomes in patients with severe left ventricular dysfunction.

Cataract is one of the most common ocular diseases caused by various causes including congenital, resulting from trauma, drug or radiation, diabetes, or aging. Diabetes type 2, as a common metabolic disorder, is one of the main reasons for cataracts. we aimed to study nutritional counseling's status on the correction of glucose and urea and creatinine patterns and blood pressure of patients undergoing cataract surgery and reducing the pre-operative hospitalization time.

In this study, 60 women with type 2 diabetes and 39 male participantsaged 25 to 65 (aged 25 to 65) were randomly assignedinto two groups (control without diet and nutritional counseling). The target group (presentation of diabetic diet and nutrition counseling) went under investigation two weeks before cataract surgery. Blood sampling proceeded from the arm vein in a sitting way one day before and afterthe diet (12 hours of fasting).

Fasting blood glucose, body weight, waist circumference, urea, creatinine, blood pressure, and hospitalization period were significantly decreased after surgery (p≤0.05).

The results showed that receiving nutrition counseling and diet before cataract surgery can improve fasting blood glucose, 2-hour blood glucose, body weight, urea, creatinine, blood pressure, and thus hospitalization and recovery be reduced after surgery.