Bilateral Optic Disk Swelling and Peripheral Visual Field Defects as a Rare Initial Presentation of Primary Chiari I Malformation.

Chiari malformation 1 (CM1) is defined as a herniation of encephalon matter through the base of the skull. The amount of herniation is cited as greater than 3 mm or 5 mm, depending on the source of literature. We report a rare case of a 55-year-old male initially presenting with bilateral papilledema and monocular right lower quadrantanopia, found to have CM1. An MRI confirmed 4.87 mm herniation of the cerebellar tonsils at the foramen magnum, and he was diagnosed with CM1. He was later found to have a normal opening pressure on lumbar puncture at 10 cm H2O. This poses an interesting clinical question as papilledema is defined by elevated intracranial pressure. The ophthalmic defects of this patient with normal intracranial pressure and CM1 are explored in this report.

Bio-informatic analysis of CRISPR protospacer adjacent motifs (PAMs) in T4 genome.

BACKGROUND: The existence of protospacer adjacent motifs (PAMs) sequences in bacteriophage genome is critical for the recognition and function of the clustered regularly interspaced short palindromic repeats-Cas (CRISPR-Cas) machinery system. We further elucidate the significance of PAMs and their function, particularly as a part of transcriptional regulatory regions in T4 bacteriophages. METHODS: A scripting language was used to analyze a sequence of T4 phage genome, and a list of few selected PAMs. Mann-Whitney Wilcoxon (MWW) test was used to compare the sequence hits for the PAMs versus the hits of all the possible sequences of equal lengths. RESULTS: The results of MWW test show that certain PAMs such as: 'NGG' and 'TATA' are preferably located at the core of phage promoters: around -10 position, whereas the position around -35 appears to have no detectable count variation of any of the tested PAMs. Among all tested PAMs, the following three sequences: 5'-GCTV-3', 5'-TTGAAT-3' and 5'-TTGGGT-3' have higher prevalence in essential genes. By analyzing all the possible ways of reading PAM sequences as codons for the corresponding amino acids, it was found that deduced amino acids of some PAMs have a significant tendency to prefer the surface of proteins. CONCLUSION: These results provide novel insights into the location and the subsequent identification of the role of PAMs as transcriptional regulatory elements. Also, CRISPR targeting certain PAM sequences is somehow likely to be connected to the hydrophilicity (water solubility) of amino acids translated from PAM's triplets. Therefore, these amino acids are found at the interacting unit at protein-protein interfaces.

State of diagnostic quandary solved by modern technology: a rare case of Madelung's disease.

Madelung's disease is a neglected metabolic disease characterised by generalised multiple fatty tissue deposits. A 64-year-old Caucasian woman presented with generalised weakness and symptomatic hypoglycaemia with altered mental status. Physical examination showed very distinct physical characteristics with multiple lumps distributed over the upper body. Her neurological symptoms were solved by giving intravenous glucose and optimisation of medical treatment. Even though she had unique characteristics of Madelung's disease, many physicians, on several occasions, failed to recognise her 'hidden diagnosis'. This diagnostic uncertainty was able to be solved by searching the Internet for similar clinical features and images. This case demonstrates characteristics and unique features of a rare disease that can be seen in a female patient even though it is mostly found in males.