THE EFFECT OF ALPHA THALASSEMIA, HBF and HBC ON HAEMATOLOGICAL PARAMETERS OF SICKLE CELL DISEASE PATIENTS IN IBADAN, NIGERIA.

Background: Sickle cell disease is a protean disease with limited data on the phenotypic and genetic variants in Nigeria. This study was conducted to provide baseline data on these variants by characterizing the existing forms of sickle cell disease and correlating these with basic hematological parameters. Methods: Adult and pediatric patients with SCD were recruited from a tertiary health centre in Nigeria. Patients were age and sex matched with healthy controls. Blood samples were obtained for Full Blood Count, phenotyping by High Performance Liquid Chromatography and genotyping for alpha thalassemia by multiplex gap polymerase chain reaction. Data analysis was done using IBM SPSS statistics version 23. Results: A total of 130 patients with sickle cell disease and 117 controls were studied. Alpha thalassemia in the study population was due to a 3.7kb deletion in the alpha globin gene cluster at a prevalence of 45.4% in the patients and 47% in controls. The prevalence of the various existing forms of SCD genotype was: Homozygous S without alpha gene deletion (HbSS)- 39.2%; HbSC - 10.8%; HbSα+1- 35.4%; HbSα+2 - 6.9% and HbSF- 7.7%. HbA2 was significantly elevated in individuals with two alpha gene deletions (HbSα+2). HbF and HbA2 were negatively correlated with each other (r= -0.587, p < 0.001). Individuals with the HbSC genotype followed by HbSα+2 had the best hematological parameters. Conclusions: Hematological parameters varied with hemoglobin genotype. The C hemoglobin and homozygous alpha thalassemia deletion had better ameliorating effect on SCD hematological parameters than the F hemoglobin in this population.

Single nucleotide polymorphism in Interleukin 1 alpha gene might be involved in the Oral Herpes recurrent episodes in Brazilian Para-Athletes

The main goal of this study was to investigate if there is an association between Oral Herpes (OH) recurrent episodes and Single Nucleotide Polymorphisms (SNPs) in IL1A, IL10, and IL1RN genes in a group of Brazilian Para-athletes. This transversal study was prepared according to the STrengthening the REporting of Genetic Association Studies (STREGA) guidelines. Oral examination and DNA collection for genotyping were performed in a non-probabilistic convenience sampling composed of Brazilian para-athletes who participated in a Brazilian selective competition. Data referring to the general characterization of sample were collected through a self-reported questionnaire. Candidate genes were chosen with the UCSC Genome Browser and SNPs in IL1A gene (rs17561, rs1304037), IL10 gene (rs1800871), and IL1RN gene (rs9005) were selected and investigated in allelic, genotypic, dominant, and recessive models. Hardy-Weinberg equilibrium was evaluated in each SNP. The sample was composed of 273 para-athletes (63 (23.4%) practice swimming, 61 (22.3%) powerlifting and 145 (63.7%) athletics). OH recurrent episodes was related by 47 (17.2%) para-athletes and the presence of T allele in the rs1304037 increased chance of OH. These findings suggest that rs1304037 in IL1A gene is associated with OH recurrent episodes in para-athletes.

GENETIC ASSOCIATION OF HYPOXIA INDUCIBLE FACTOR (HIF) – 1 ALPHA GENE AND RESIDUAL RIDGE RESORPTION OF JAW BONE

Due to considerable alterations in individual bone structure, the residual ridge is constantly under the stress of bone resorption. In certain circumstances, this can cause disproportionate bone deterioration, making restorative dental management difficult. This inimitable curative procedure in the oral cavity is affected by specific factors in the oral tissue. A variety of HIFs are expressed during the healing of oral wounds in comparison to skin wounds. The target of this review article was to look at a cistron tic connotation among SNP of the HIF-1 α gene that is understood to own great genetic diversity, and also the residual ridge reabsorption (RRR). Hence, this review concentrates on the association and genetic basis of HIF α gene in residual ridge resorption.

Mitotane Treatment Combined With Unilateral Adrenalectomy in a Patient With Primary Pigmented Nodular Adrenocortical Disease Caused by a Start Codon Mutation of PRKAR1A Gene

Background: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing’s syndrome (CS). This study aimed to explore molecular basis and treatment strategy in a patient with PPNAD.Methods: Whole-exome sequencing (WES) was used to reveal the mutation of PRKAR1A gene, with immunohistochemistry (IHC) to observe the expression of mutant PRKAR1A. Low-dose Mitotane followed by unilateral adrenalectomy were performed to control hypercortisolism. Results: A case of 45-year-old female present with classical hypercortisolism as excessive weight gain, central obesity, and intractable hypertension. She experienced adrenal adenoma surgery 10 years ago with no improvement. Low dosage of Mitotane was used for 7 months to control the severe hypercortisolism. Then laparoscopic unilateral adrenalectomy was performed and pathological features supporting PPNAD. The germline mutation (c.1A>G) in the start codon of PRKAR1A (Protein Kinase cAMP-Dependent Type I Regulatory Subunit Alpha) gene was identified. Notably, the body weight and hypertension were improved obviously one year later even if she discontinued with the Mitotane treatment.Conclusion: Low-dose Mitotane followed by unilateral adrenalectomy showed satisfied treatment effect in this patient, which may be an alternative treatment for PPNAD patient instead of bilateral adrenalectomy.

Taxonomy and phylogeny of the Absidia (Cunninghamellaceae, Mucorales) introducing nine new species and two new combinations from China

Absidia is ubiquitous and plays an important role in medicine and biotechnology. In the present study, nine new species were described from China in the genus Absidia, i.e. A. ampullacea, A. brunnea, A. chinensis, A. cinerea, A. digitata, A. oblongispora, A. sympodialis, A. varians, and A. virescens. Besides, two varieties A. cylindrospora var. nigra and A. spinosa var. biappendiculata were elevated to a specific rank as A. nigra comb. nov. and A. biappendiculata comb. nov., respectively. These new taxa were proposed based on a comprehensive investigation of morphological traits (such as shape and size of sporangia, sporangiospores and projections on columellae), physiological feature (maximum growth temperatures), and multi-locus sequences (including internal transcribed spacer, large subunit D1-D2 domains of nuclear ribosomal DNA, partial translation elongation factor 1 alpha gene and actin gene). All species mentioned above are illustrated, and an identification key to all the known species of Absidia in China is included.

Expression of T-cell receptor gamma, delta, and alpha gene segments associates with survival in triple negative breast cancer.

We mined published microarray data (1) to understand the most significant gene expression differences in the tumors of triple negative breast cancer (TNBC) patients based on survival at time of analysis: dead or alive. TRAJ27, TRDC, TRDJ1, and TRGV1 emerged as among the most differentially expressed genes, transcriptome-wide, when comparing the primary tumors of triple negative breast cancer patients dead or alive. TRAJ27, TRDC, TRDJ1, and TRGV1 were all present at significantly higher quantities in the tumors of TNBC patients alive. Differential expression of TCR genes TRAJ27, TRDC, TRDJ1, and TRGV1 may be of relevance in understanding the etiology or progression of triple negative breast cancer.