The T-box21 (TBX21) gene encodes the transcription factor T-bet (T-box expressed in T cells), which influences naïve T lymphocyte development and has been implicated in the pathogenesis of many diseases. We aimed to assess the implication of the TBX21 gene promoter T-1514C polymorphism in susceptibility to systemic lupus erythematosus (SLE) in a cohort of Egyptian population and to study the association between the genetic polymorphism of that gene and the clinical and laboratory data of these patients. The study included 50 SLE patients. Sixty age, sex, and ethnically matched volunteers were included in the current study as a control group. The genotyping of T-1514C single nucleotide polymorphism was performed by using a polymerase chain reaction–restriction fragment length polymorphism assay. There was no statistically significant difference in the distribution of the genotypes between SLE patients and the control group in our study. No association was detected between TBX21 genotypes and the clinical features and laboratory data of the patients apart from an association with the hematologic complications (anemia, leucopenia, thrombocytopenia, or pancytopenia) with increased frequency of hematological complications in the group carrying the wild genotype (TT) (p = 0.016).

The T-box21 (TBX21) gene encodes the transcription
factor T-bet (T-box expressed in T cells), which influences
naïve T lymphocyte development and has been implicated in
the pathogenesis of many diseases. We aimed to assess the
implication of the TBX21 gene promoter T-1514C polymorphism
in susceptibility to systemic lupus erythematosus (SLE)
in a cohort of Egyptian population and to study the association
between the genetic polymorphism of that gene and the clinical
and laboratory data of these patients. The study included 50
SLE patients. Sixty age, sex, and ethnically matched volunteers
were included in the current study as a control group. The
genotyping of T-1514C single nucleotide polymorphism was
performed by using a polymerase chain reaction–restriction
fragment length polymorphism assay. There was no statistically
significant difference in the distribution of the genotypes between
SLE patients and the control group in our study. No
association was detected between TBX21 genotypes and the
clinical features and laboratory data of the patients apart from
an association with the hematologic complications (anemia,
leucopenia, thrombocytopenia, or pancytopenia) with increased
frequency of hematological complications in the group carrying
the wild genotype (TT) (p00.016).

AIM: The aim of this study was to evaluate the association between vitamin B12 and its biomarkers and the risk of neural tube defects.

METHODS: A total of 120 pregnant Egyptian women were included in the study. They were classified into two groups. Group A consisted of 50 women with neural tube defects in current pregnancy or with a history in previous pregnancies, and Group B consisted of 70 women with no history of neural tube defects in previous pregnancies or in the current pregnancy. All women were subjected to ultrasound anomaly scan and serum analysis of vitamin B12, homocysteine (Hcy), methyl malonic acid (MMA) and active vitamin B12 concentrations. Receiver operating characteristic curve analysis was used to determine the best cut-off values of vitamin B12.

RESULTS: Serum levels of vitamin B12 were decreased in Neural tube defects (NTDs) cases compared to controls (2.736 vs 3.091 ng/mL; P = 0.0015), while Hcy and MMA concentrations were elevated (18.39 vs 13.95 μmol/L; P = 0.0008 and 263 vs 229.7 μmol/L; P = 0.003, respectively). Active vitamin B12 reduction was not statistically significant (96.8 vs 99.36 pmol/L; P = 0.8013). The optimal cut-off value of vitamin B12, 2.9 ng/mL, is the best threshold to expect neural tube defects, with a sensitivity of 60% and specificity of 74.29%.

CONCLUSION: Low vitamin B12 is a risk factor for having a fetus with neural tube defects. The monitoring of MMA and Hcy levels might be important in understanding and following cases with neural tube defects. Adding vitamin B12 to folic acid may help to decrease the incidence of neural tube defects in the Egyptian population.

Purpose Blastocystis is a common enteric human parasite of non-conclusive pathogenicity which may be determined by subtype (ST) variation. Colorectal cancer (CRC) is considered one of the primary causes of cancer mortality. Blastocystis ST7 has been shown to reduce benefcial intestinal microbiota and may exacerbate CRC. This study assessed the possible association between Blastocystis STs and CRC in comparison to non-cancer patients.

Material and Methods A total of 200 fecal samples were obtained from CRC (100) and non-CRC (100) individuals attending Beni-Suef University Hospital, Egypt. Blastocystis was searched for in all samples using microscopy and culturing. Positive subculture samples were genetically sequenced and subtyped using conventional polymerase chain reaction (PCR). Blastocystis STs were determined by sequencing and a phylogenetic tree was created. Related patient characteristics and tumor stages were analyzed for association with presence of Blastocystis.

Results Blastocystis was identifed in 52% and 42% of CRC and non-cancer individuals, respectively. ST1, 2, and 3 were isolated from both cancer and non-cancer individuals; however, for the frst time, ST7 was only isolated from CRC stool samples with signifcant association. Associated patient characteristics were evaluated as predictors.

Conclusion Blastocystosis is highly prevalent in CRC patients, predominantly in the latest CRC grades and stages. To the best of our knowledge, this is the frst study to report the identifcation of Blastocystis ST7 in CRC patients. To determine whether certain STs of Blastocystis are associated with CRC would require further research, including the role played by
gut microbiota.

Keywords Blastocystis · Subtypes · Colorectal cancer · Egypt