Prevalence of Lumbosacral Transitional Vertebra in Individuals with Low Back Pain: Evaluation Using Plain Radiography and Magnetic Resonance Imaging

Study DesignDescriptive cross-sectional study.PurposeTo determine the frequency of lumbosacral transitional vertebrae (LSTV) in patients with low back pain (LBP) and the role of iliolumbar ligament (ILL) origin from L5 in LSTV cases.Overview of LiteratureTransitional vertebrae are developmental variants of the spine. LSTV is a common congenital abnormality, and failure to recognize this anomaly may result in serious consequences during surgery.MethodsAll patients aged 11–90 years of either gender with LBP for any duration, who presented for X-ray and magnetic resonance imaging (MRI) of the lumbosacral spine, were included. X-rays of the lumbosacral spine in anteroposterior and lateral views were acquired. In addition, T1- and T2-weighted sagittal and axial MRI was performed. Images were evaluated on a workstation.ResultsOf 504 patients, transitional vertebrae were observed in 75 patients (15%). Among them, 39 (52%) patients had Castellvi type III and 36 (48%) patients had Castellvi type II. However, on MRI, 42 (56%) patients had O'Driscoll type II, 18 (24%) patients had O'Driscoll type IV, and 15 patients (20%) had O'Driscoll type III. ILL origin from L5 was significantly higher (n=429, 100%) among patients with a normal lumbosacral junction than among patients with a transitional lumbosacral junction (n=22, 29.3%) (p<0.001).ConclusionsLSTV occurs at a high frequency in patients with LBP. Furthermore, in the presence of LSTV, the ILL is not a reliable marker for the identification of L5

Clinical outcomes of post‐renal transplant patients with COVID‐19 infection in the ICU: A single‐center case series

Abstract Most of the post‐renal transplant patients are taking immunosuppressive medications, including calcineurin inhibitors, anti‐proliferative agents, and steroids. This case series highlights the clinical characteristics and outcomes of eight post‐renal transplant patients with severe COVID‐19 infection admitted to the intensive care unit

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan

Purpose: Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families. Methods: Ophthalmic examination including fundoscopy, or slit-lamp microscopy was performed to clinically characterize the PCG phenotype. Genomic nucleotide sequences of the CYP1B1 and LTBP2 genes were analyzed with either Sanger or whole exome sequencing. In silico prediction programs were used to assess the pathogenicity of identified alleles. ClustalW alignments were performed to determine evolutionary conservation, and three-dimensional (3D) modeling was performed using HOPE and Phyre2 software. Results: Among the known loci, mutations in CYP1B1 and LTBP2 are the common causes of PCG. Therefore, we analyzed the genomic nucleotide sequences of CYP1B1 and LTBP2, and detected probable pathogenic variants cosegregating with PCG in 14 families. These included the three novel (c.542T>A, c.1436A>G, and c.1325delC) and five known (c.868dupC, c.1168C>T, c.1169G>A, c.1209InsTCATGCCACC, and c.1310C>T) variants in CYP1B1. Two of the novel variants are missense substitutions [p.(Leu181Gln), p.(Gln479Arg)], which replaced evolutionary conserved amino acids, and are predicted to be pathogenic by various in silico programs, while the third variant (c.1325delC) is predicted to cause reading frameshift and premature truncation of the protein. A single mutation, p.(Arg390His), causes PCG in six (~43%) of the 14 CYP1B1 mutations harboring families, and thus, is the most common variant in this cohort. Surprisingly, we did not find any LTBP2 pathogenic variants in the families, which further supports the genetic heterogeneity of PCG in the Pakistani population. Conclusions: In conclusion, results of the present study enhance our understanding of the genetic basis of PCG, support the notion of a genetic modifier of CYP1B1, and contribute to the development of genetic testing protocols and genetic counseling for PCG in Pakistani families