No abstract

Acid sphingomyelinase (ASM)-deficient Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene. To date, around 185 mutations have been reported in patients with ASM-deficient NPD world-wide, but the mutation spectrum of this disease in India has not yet been reported. The aim of this study was to ascertain the mutation profile in Indian patients with ASMdeficient NPD. We sequenced SMPD1 in 60 unrelated families affected with ASM-deficient NPD. A total of 45 distinct pathogenic sequence variants were found, of which 14 were known and 31 were novel. The variants included 30 missense, 4 nonsense, and 9 frameshift (7 single base deletions and 2 single base insertions) mutations, 1 indel, and 1 intronic duplication. The pathogenicity of the novel mutations was inferred with the help of the mutation prediction software MutationTaster, SIFT, Polyphen-2, PROVEAN, and HANSA. The effects of the identified sequence variants on the protein structure were studied using the structure modeled with the help of the SWISS-MODEL workspace program. The p. (Arg542 Ã ) (c.1624C>T) mutation was the most commonly identified mutation, found in 22% (26 out of 120) of the alleles tested, but haplotype analysis for this mutation did not identify a founder effect for the Indian population. To the best of our knowledge, this is the largest study on mutation analysis of patients with Festschrift honoring John C. Carey

No abstract

Parapharyngeal tumors are rare head and neck tumors which can present as an intraoral mass and can pose great challenge to anesthesiologists. The primary concern is the difficult airway due to gross anatomical distortion of the upper airway. Securing the airway in an awake state should be the primary goal of anesthesiologists to avoid catastrophic complications. Herewith, we report the successful use of C-MAC® video laryngoscope with the acute-angle D-BLADE™ in combination with Frova introducer for awake intubation in a patient with parapharyngeal mass after multiple attempts of failed fiber-optic intubation.