Giant splenic artery mycotic aneurysm presenting with massive hematemesis.

We report a 40-year-old man with rheumatic heart disease who presented with abdominal pain for three weeks and hematemesis for 24 hours. CT scan showed a large splenic artery aneurysm without evidence of pancreatitis. Mycotic aneurysm due to infective endocarditis was considered and confirmed by echocardiogram, which showed aortic and mitral valve regurgitation and vegetations. He was managed successfully with coil embolization of the aneurysm and antibiotics.     

EGPred: prediction of eukaryotic genes using ab initio methods after combining with sequence similarity approaches

EGPred is a Web-based server that combines ab initio methods and similarity searches to predict genes, particularly exon regions, with high accuracy. The EGPred program proceeds in the following steps: (1) an initial BLASTX search of genomic sequence against the RefSeq database is used to identify protein hits with an E-value <1; (2) a second BLASTX search of genomic sequence against the hits from the previous run with relaxed parameters (E-values <10) helps to retrieve all probable coding exon regions; (3) a BLASTN search of genomic sequence against the intron database is then used to detect probable intron regions; (4) the probable intron and exon regions are compared to filter/remove wrong exons; (5) the NNSPLICE program is then used to reassign splicing signal site positions in the remaining probable coding exons; and (6) finally ab initio predictions are combined with exons derived from the fifth step based on the relative strength of start/stop and splice signal sites as obtained from ab initio and similarity search. The combination method increases the exon level performance of five different ab initio programs by 4%-10% when evaluated on the HMR195 data set. Similar improvement is observed when ab initio programs are evaluated on the Burset/Guigo data set. Finally, EGPred is demonstrated on an approximately 95-Mbp fragment of human chromosome 13. The list of predicted genes from this analysis are available in the supplementary material. The EGPred program is computationally intensive due to multiple BLAST runs during each analysis. The EGPred server is available at http://www.imtech.res.in/raghava/egpred/.     

A Unique Association of Unilateral Idiopathic Calcinosis Cutis with Ipsilateral Porokeratotic Eccrine Ostial and Dermal Duct Nevus

An 11‐year‐old boy presented with complaints of multiple skin‐colored hard lumps on the right side of his body and progressive deformity of the right leg of 7‐years duration. His parents had also noticed multiple asymptomatic pits over his right arm, palms, and soles since childhood. Examination revealed skin‐colored nontender nodules on the right half of his body and shortening of his right leg. The multiple hyperpigmented pits over the right arm, palm, and sole raised diagnostic difficulties, but histopathologic, radiologic, and biochemical investigations confirmed the features of idiopathic calcinosis cutis and porokeratotic eccrine ostial and dermal duct nevus. Unilateral idiopathic calcinosis cutis has not been previously reported in the literature, and the association with ipsilateral porokeratotic eccrine ostial and dermal duct nevus makes this case unique. Diagnostic difficulties and limited options for treatment make this case interesting academically.     

Role of minimal residual disease monitoring in acute promyelocytic leukemia treated with arsenic trioxide in frontline therapy

Data on minimal residual disease (MRD) monitoring in acute promyelocytic leukemia (APL) are available only in the context of conventional all-trans retinoic acid plus chemotherapy regimens. It is recognized that the kinetics of leukemia clearance is different with the use of arsenic trioxide (ATO) in the treatment of APL. We undertook a prospective peripheral blood RT-PCR-based MRD monitoring study on patients with APL treated with a single agent ATO regimen. A total of 151 patients were enrolled in this study. A positive RT-PCR reading at the end of induction therapy was significantly associated on a multivariate analysis with an increased risk of relapse (relative risk = 4.9; P = .034). None of the good risk patients who were RT-PCR negative at the end of induction relapsed. The majority of the relapses (91%) happened within 3 years of completion of treatment. After achievement of molecular remission, the current MRD monitoring strategy was able to predict relapse in 60% of cases with an overall sensitivity and specificity of 60% and 93.2%, respectively. High-risk group patients and those that remain RT-PCR positive at the end of induction are likely to benefit from serial MRD monitoring by RT-PCR for a period of 3 years from completion of therapy.     

A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major

Molecular characterization of β-thalassemia (β-thal) is essential in prevention and in understanding the biology of the disease. Deletion mutations are relatively uncommon in β-thal. In this report, we describe a novel 26 bp deletion from codon 6 to codon 14 in the β-globin in a consanguineous family from Tamil Nadu, India. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence, and consequently, a premature chain termination of translation due to the creation of a stop codon at the position of codon 21. The identification of this novel deletional mutation adds to the repertoire of β-thal mutations in India.