ABSTRACT
Alcoholic hepatitis (AH) usually presents after decades of alcohol consumption and can even manifest with recent abstinence. The clinical presentation may be compounded by underlying liver cirrhosis and liver function enzymes are not a reliable means of diagnosing AH due to poor sensitivity and specificity. One feature of alcoholic hepatitis is thrombocytopenia; however, patients may also have thrombocytopenia due to another underlying condition, such as Immune Thrombocytopenic Purpura (ITP). ITP is an autoimmune disease caused by autoantibodies against platelet glycoproteins. ITP is a diagnosis of exclusion and secondary causes of thrombocytopenia must be ruled out with persistent thrombocytopenia that is refractory to treatment for AH. Although there is limited data demonstrating a correlation between AH and ITP, both conditions respond to steroids. We present a case of a 42 YO M with an unknown cause of hepatitis and concomitant ITP who responded well to steroids.
ABSTRACT
OBJECTIVE: To study the orthologs of the five genes of congenital hypothyroidism NIS, PAX8, DUOX2, FOXE1, NKX2-1 that are involved in the development of the thyroid gland. METHODS: The study was conducted at INMOL Cancer Hospital, Lahore in September 2017 and comprised of finding gene orthologs, phylogenetic tree and domains of NIS, PAX8, DUOX2, FOXE1, NKX2-1 which were studied using different bioinformatics tools, including FASTA, BLAST, ENSEMBL, UniProt, MultiAlin, to find out the important domains involved in the mutations of these genes. RESULTS: Genes showed consensus sequence / motifs involved in congenital hypothyroidism. Phylogenetic results showed that these genes shared some common motifs. Phylogenetic trees revealed sub-clusters with high protein homology. CONCLUSIONS: Genes involved in congenital hypothyroidism were found to have a consensus sequence motifs.
