Biochemistry and Molecular Biology Education, Feb 20, 2023
After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion ... more After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion in the substitution of traditional practical sessions with lab‐based virtual tools. This study aimed to assess the effectiveness of virtual labs in practicing biochemical experiments and to examine the student's feedback regarding this tool. Virtual and traditional labs training were compared in teaching qualitative analysis of proteins and carbohydrates experiments for first‐year medical students. Students' achievements were assessed, and their satisfaction regarding virtual labs was estimated using a questionnaire. A total of 633 students were enrolled in the study. There was a significant increase in the average scores of students performing the virtual lab of protein analysis compared with those trained in a real lab and those who watched videos explaining the experiment (p < 0.001). The opposite was noticed in the qualitative analysis of carbohydrates with significantly high grades of students trained conventionally compared with those who practiced with virtual labs (p < 0.001). Students' feedback rates on the virtual labs were high (>70% satisfaction rate). Most students believed virtual labs were supported with a clear explanation, yet they thought it did not give a realistic experience. Students accepted virtual labs, but they still prefer using them as preparatory to classic labs. In conclusion, virtual labs can offer good laboratory practice in the Medical Biochemistry course. Their impact on students' learning might be increased if selected cautiously and implemented properly in the curriculum.
After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion ... more After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion in the substitution of traditional practical sessions with lab‐based virtual tools. This study aimed to assess the effectiveness of virtual labs in practicing biochemical experiments and to examine the student's feedback regarding this tool. Virtual and traditional labs training were compared in teaching qualitative analysis of proteins and carbohydrates experiments for first‐year medical students. Students' achievements were assessed, and their satisfaction regarding virtual labs was estimated using a questionnaire. A total of 633 students were enrolled in the study. There was a significant increase in the average scores of students performing the virtual lab of protein analysis compared with those trained in a real lab and those who watched videos explaining the experiment (p < 0.001). The opposite was noticed in the qualitative analysis of carbohydrates with significantly h...
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder transmitted as an autoso... more Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder transmitted as an autosomal recessive trait. It predominantly affects people living in, or originating from, areas around the Mediterranean and was difficult to diagnose until mutations in the MEFV gene were identified. This study aims to analyse the five most common MEFV mutations in Egyptian patients diagnosed clinically as FME Thirty-eight unrelated patients were tested for the presence of the MEFV gene mutations V726A, M694V, M694I, M680I and E148Q, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the amplification refractory mutation system (ARMS). Twenty-three patients (60.5%) had one or more mutations, whereas no mutation was found in the remaining 15 patients (39.5%). The most common mutation was M694I (42.5%), followed by V726A (22.5%), M680I (17.5%) and E148Q (17.5%). The M694V mutation was not detected. The profile of MEFV gene mutations in this study suggests that the origin of FMF in Egypt is heterogeneous, a finding in concordance with that for other Arab populations; however, some differences were observed as M694V, the most common mutation reported in Arabs, was not detected in this study.
Inherited retinal dystrophies are caused by mutations in more than 250 genes, each of them carryi... more Inherited retinal dystrophies are caused by mutations in more than 250 genes, each of them carrying several types of mutations that can lead to different clinical phenotypes. Mutations in Retinitis Pigmentosa GTPase-Regulator (RPGR) cause X-linked Retinitis pigmentosa (RP). A nucleotide substitution in intron 9 of RPGR causes the increase of an alternatively spliced isoform of the mature mRNA, bearing exon 9a (E9a). This introduces a stop codon, leading to truncation of the protein. Aiming at restoring impaired gene expression, we developed an antisense RNA-based therapeutic approach for the skipping of RPGR E9a. We designed a set of specific U1 antisense snRNAs (U1_asRNAs) and tested their efficacy in vitro, upon transient co-transfection with RPGR minigene reporter systems in HEK-293T and PC-12 cell lines. We thus identified three chimeric U1_asRNAs that efficiently mediate E9a skipping, correcting the genetic defect. Unexpectedly, the U1-5’antisense construct, which exhibited the...
Background: Intestinal microsporidiosis is among the most frequent opportunistic diseases in immu... more Background: Intestinal microsporidiosis is among the most frequent opportunistic diseases in immunocompromised patients. Routine diagnosis is generally performed by light microscopy of stained fecal samples. While unequivocal non-molecular species identification, important for cases management, is achievable only through electron microscopy. Objective: This study aimed to evaluate the contribution of multiplex real time PCR for simultaneous detection and differentiation of Enterocytozoon bieneusi and Encephalitozoon intestinalis in stool specimens of patients with immunosuppressive conditions. Methodology: Stool samples were obtained from 78 immunocompromised patients suffering from diarrhea. The samples were screened for intestinal microsporidiosis by light microscopy using Weber's modified trichrome stain. The samples were subjected to multiplex real time PCR using Enterocytozoon bieneusi (E. bieneusi) primers and a probe specific on the internal transcribed spacer (ITS) seque...
ABSTRACT Background and Aim: The low-density lipoprotein receptor (LDL-R) has been proposed to pr... more ABSTRACT Background and Aim: The low-density lipoprotein receptor (LDL-R) has been proposed to promote hepatitis C virus endocytosis. Polymorphisms within the LDL-R gene are associated with the pathogenesis of familial hypercholesterolemia, atherosclerosis and obesity. We herein studied the effects of the Ava II polymorphism at LDL-R gene exon 13, one of the genetic variants of the LDL-R gene, in Egyptian patients with chronic hepatitis C virus (HCV) infection and in healthy control subjects. Patients and Methods: Sixty chronic HCV patients without antiviral treatment and 40 healthy blood donors were included in the study. The Ava II polymorphism of the LDL-R gene exon 13 was detected by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: Ava II polymorphism in the LDL-R gene was significantly different between chronic HCV patients and healthy control. Subjects with the CC genotype were significantly more frequent among chronic HCV patients without cirrhosis when compared to those with cirrhosis. Patients with TT genotype had significantly higher levels of viremia when compared to patients with CC or CT genotype. Conclusions: Ava II polymorphism in the LDL-R gene is associated with chronic HCV infection and is related to the level of viremia. Therefore, Ava II polymorphism of the LDL-R gene may be one of the factors that influence the level of HCV viremia in Egyptian population.
ABSTRACT Background and Aim: The incidence and prevalence of diabetes is rising globally and pose... more ABSTRACT Background and Aim: The incidence and prevalence of diabetes is rising globally and poses a serious challenge to public health. Transcription factor-7-like 2 (TCF7L2) gene has been identified as the most promising type 2 diabetes mellitus (T2DM) susceptibility gene in last years. Common intronic polymorphisms in this gene have been found to be strongly associated with T2DM susceptibility showing marked reproducibility in multiple populations. This study aimed to identify the frequency of two common TCF7L2 variants in Egyptian population sample from Suez Canal area. Patients and Methods: We genotyped two single nucleotide polymorphisms (SNPs) [RefSeq (rs) 12255372 and rs7903146] in a case-control sample consisting of 85 unrelated T2D cases and 47 controls using TaqMan SNP genotyping assay. We also examined the impact of these variants on body mass index (BMI), glucose and lipid levels. Results: Although high risk allele (T) frequencies for both studied polymorphisms (rs12255372 and rs7903146) were higher in diabetic patients compared to controls (54% vs. 50% and 47% vs, 45%, respectively), SNP rs12255372 allele frequency showed marginal association with T2D (OR = 1.15, 95% CI= 0.69-1.90. P=0.06) and SNP rs7903146 allele frequency showed insignificant association (OR = 1.10, 95% CI= 0.66-1.82, P=0.32). Genotype-phenotype analysis demonstrated that T2D patients carrying the homozygous genotype of risk allele (TT) in SNP rs12255372 had a more pronounced increase in fasting and 2hrs postprandial blood glucose levels and decrease in HDL-C (P&lt;0.05). Conclusions: This study indicated that TCF7L2 could have a crucial contribution to T2D in Egyptian population. Further investigation of the interaction between this gene and other susceptibility genes in large scale association studies in this region, will provide useful information for better understanding of the impact of this gene in the development of T2D.
Low serum vitamin D [25(OH)D] has been associated with different health problems worldwide. Howev... more Low serum vitamin D [25(OH)D] has been associated with different health problems worldwide. However, its causal role in several diseases remains unclear. We aimed to correlate vitamin D status with maternal and neonatal outcomes in pregnant females. One thousand pregnant women were recruited during early labour from the labour ward of King Khaled University Hospital, Riyadh, Saudi Arabia. Detailed medical data of all participants were collected from their records. Delivery events and birth outcomes were also documented. Serum 25(OH)D levels were measured using an enzyme-linked immunosorbent assay. A receiver operating characteristic (ROC) curve was constructed to evaluate the ability of vitamin D levels to predict complicated pregnancies. Regression analysis was used to test the correlation between serum 25(OH)D levels and different variables. Most of the participants were Saudis (89.9 %) and housewives (85.1 %) and 86.4 % of them had vitamin D deficiency (mean: 30.46 ± 19.6 nmol/L)...
Biochemistry and Molecular Biology Education, Feb 20, 2023
After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion ... more After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion in the substitution of traditional practical sessions with lab‐based virtual tools. This study aimed to assess the effectiveness of virtual labs in practicing biochemical experiments and to examine the student's feedback regarding this tool. Virtual and traditional labs training were compared in teaching qualitative analysis of proteins and carbohydrates experiments for first‐year medical students. Students' achievements were assessed, and their satisfaction regarding virtual labs was estimated using a questionnaire. A total of 633 students were enrolled in the study. There was a significant increase in the average scores of students performing the virtual lab of protein analysis compared with those trained in a real lab and those who watched videos explaining the experiment (p &lt; 0.001). The opposite was noticed in the qualitative analysis of carbohydrates with significantly high grades of students trained conventionally compared with those who practiced with virtual labs (p &lt; 0.001). Students' feedback rates on the virtual labs were high (&gt;70% satisfaction rate). Most students believed virtual labs were supported with a clear explanation, yet they thought it did not give a realistic experience. Students accepted virtual labs, but they still prefer using them as preparatory to classic labs. In conclusion, virtual labs can offer good laboratory practice in the Medical Biochemistry course. Their impact on students' learning might be increased if selected cautiously and implemented properly in the curriculum.
After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion ... more After the COVID‐19 pandemic, there was an increasing demand for remote learning and an expansion in the substitution of traditional practical sessions with lab‐based virtual tools. This study aimed to assess the effectiveness of virtual labs in practicing biochemical experiments and to examine the student's feedback regarding this tool. Virtual and traditional labs training were compared in teaching qualitative analysis of proteins and carbohydrates experiments for first‐year medical students. Students' achievements were assessed, and their satisfaction regarding virtual labs was estimated using a questionnaire. A total of 633 students were enrolled in the study. There was a significant increase in the average scores of students performing the virtual lab of protein analysis compared with those trained in a real lab and those who watched videos explaining the experiment (p < 0.001). The opposite was noticed in the qualitative analysis of carbohydrates with significantly h...
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder transmitted as an autoso... more Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder transmitted as an autosomal recessive trait. It predominantly affects people living in, or originating from, areas around the Mediterranean and was difficult to diagnose until mutations in the MEFV gene were identified. This study aims to analyse the five most common MEFV mutations in Egyptian patients diagnosed clinically as FME Thirty-eight unrelated patients were tested for the presence of the MEFV gene mutations V726A, M694V, M694I, M680I and E148Q, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the amplification refractory mutation system (ARMS). Twenty-three patients (60.5%) had one or more mutations, whereas no mutation was found in the remaining 15 patients (39.5%). The most common mutation was M694I (42.5%), followed by V726A (22.5%), M680I (17.5%) and E148Q (17.5%). The M694V mutation was not detected. The profile of MEFV gene mutations in this study suggests that the origin of FMF in Egypt is heterogeneous, a finding in concordance with that for other Arab populations; however, some differences were observed as M694V, the most common mutation reported in Arabs, was not detected in this study.
Inherited retinal dystrophies are caused by mutations in more than 250 genes, each of them carryi... more Inherited retinal dystrophies are caused by mutations in more than 250 genes, each of them carrying several types of mutations that can lead to different clinical phenotypes. Mutations in Retinitis Pigmentosa GTPase-Regulator (RPGR) cause X-linked Retinitis pigmentosa (RP). A nucleotide substitution in intron 9 of RPGR causes the increase of an alternatively spliced isoform of the mature mRNA, bearing exon 9a (E9a). This introduces a stop codon, leading to truncation of the protein. Aiming at restoring impaired gene expression, we developed an antisense RNA-based therapeutic approach for the skipping of RPGR E9a. We designed a set of specific U1 antisense snRNAs (U1_asRNAs) and tested their efficacy in vitro, upon transient co-transfection with RPGR minigene reporter systems in HEK-293T and PC-12 cell lines. We thus identified three chimeric U1_asRNAs that efficiently mediate E9a skipping, correcting the genetic defect. Unexpectedly, the U1-5’antisense construct, which exhibited the...
Background: Intestinal microsporidiosis is among the most frequent opportunistic diseases in immu... more Background: Intestinal microsporidiosis is among the most frequent opportunistic diseases in immunocompromised patients. Routine diagnosis is generally performed by light microscopy of stained fecal samples. While unequivocal non-molecular species identification, important for cases management, is achievable only through electron microscopy. Objective: This study aimed to evaluate the contribution of multiplex real time PCR for simultaneous detection and differentiation of Enterocytozoon bieneusi and Encephalitozoon intestinalis in stool specimens of patients with immunosuppressive conditions. Methodology: Stool samples were obtained from 78 immunocompromised patients suffering from diarrhea. The samples were screened for intestinal microsporidiosis by light microscopy using Weber's modified trichrome stain. The samples were subjected to multiplex real time PCR using Enterocytozoon bieneusi (E. bieneusi) primers and a probe specific on the internal transcribed spacer (ITS) seque...
ABSTRACT Background and Aim: The low-density lipoprotein receptor (LDL-R) has been proposed to pr... more ABSTRACT Background and Aim: The low-density lipoprotein receptor (LDL-R) has been proposed to promote hepatitis C virus endocytosis. Polymorphisms within the LDL-R gene are associated with the pathogenesis of familial hypercholesterolemia, atherosclerosis and obesity. We herein studied the effects of the Ava II polymorphism at LDL-R gene exon 13, one of the genetic variants of the LDL-R gene, in Egyptian patients with chronic hepatitis C virus (HCV) infection and in healthy control subjects. Patients and Methods: Sixty chronic HCV patients without antiviral treatment and 40 healthy blood donors were included in the study. The Ava II polymorphism of the LDL-R gene exon 13 was detected by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: Ava II polymorphism in the LDL-R gene was significantly different between chronic HCV patients and healthy control. Subjects with the CC genotype were significantly more frequent among chronic HCV patients without cirrhosis when compared to those with cirrhosis. Patients with TT genotype had significantly higher levels of viremia when compared to patients with CC or CT genotype. Conclusions: Ava II polymorphism in the LDL-R gene is associated with chronic HCV infection and is related to the level of viremia. Therefore, Ava II polymorphism of the LDL-R gene may be one of the factors that influence the level of HCV viremia in Egyptian population.
ABSTRACT Background and Aim: The incidence and prevalence of diabetes is rising globally and pose... more ABSTRACT Background and Aim: The incidence and prevalence of diabetes is rising globally and poses a serious challenge to public health. Transcription factor-7-like 2 (TCF7L2) gene has been identified as the most promising type 2 diabetes mellitus (T2DM) susceptibility gene in last years. Common intronic polymorphisms in this gene have been found to be strongly associated with T2DM susceptibility showing marked reproducibility in multiple populations. This study aimed to identify the frequency of two common TCF7L2 variants in Egyptian population sample from Suez Canal area. Patients and Methods: We genotyped two single nucleotide polymorphisms (SNPs) [RefSeq (rs) 12255372 and rs7903146] in a case-control sample consisting of 85 unrelated T2D cases and 47 controls using TaqMan SNP genotyping assay. We also examined the impact of these variants on body mass index (BMI), glucose and lipid levels. Results: Although high risk allele (T) frequencies for both studied polymorphisms (rs12255372 and rs7903146) were higher in diabetic patients compared to controls (54% vs. 50% and 47% vs, 45%, respectively), SNP rs12255372 allele frequency showed marginal association with T2D (OR = 1.15, 95% CI= 0.69-1.90. P=0.06) and SNP rs7903146 allele frequency showed insignificant association (OR = 1.10, 95% CI= 0.66-1.82, P=0.32). Genotype-phenotype analysis demonstrated that T2D patients carrying the homozygous genotype of risk allele (TT) in SNP rs12255372 had a more pronounced increase in fasting and 2hrs postprandial blood glucose levels and decrease in HDL-C (P&lt;0.05). Conclusions: This study indicated that TCF7L2 could have a crucial contribution to T2D in Egyptian population. Further investigation of the interaction between this gene and other susceptibility genes in large scale association studies in this region, will provide useful information for better understanding of the impact of this gene in the development of T2D.
Low serum vitamin D [25(OH)D] has been associated with different health problems worldwide. Howev... more Low serum vitamin D [25(OH)D] has been associated with different health problems worldwide. However, its causal role in several diseases remains unclear. We aimed to correlate vitamin D status with maternal and neonatal outcomes in pregnant females. One thousand pregnant women were recruited during early labour from the labour ward of King Khaled University Hospital, Riyadh, Saudi Arabia. Detailed medical data of all participants were collected from their records. Delivery events and birth outcomes were also documented. Serum 25(OH)D levels were measured using an enzyme-linked immunosorbent assay. A receiver operating characteristic (ROC) curve was constructed to evaluate the ability of vitamin D levels to predict complicated pregnancies. Regression analysis was used to test the correlation between serum 25(OH)D levels and different variables. Most of the participants were Saudis (89.9 %) and housewives (85.1 %) and 86.4 % of them had vitamin D deficiency (mean: 30.46 ± 19.6 nmol/L)...
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