A Rare Neurological Presentation of Noonan Syndrome and Its Management-A Case Report.

Although Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coiling. Only four cases of cerebrovascular aneurysms in Noonan syndrome have been reported in the literature so far.

The Role of Serum Matrix Metalloproteinase-9 as a Predictor of Delayed Cerebral Ischemia in Patients with Aneurysmal Subarachnoid Hemorrhage.

Delayed cerebral ischemia (DCI) is one of the major causes of a poor neurological outcome following aneurysmal subarachnoid hemorrhage (aSAH). Several biomarkers, including matrix metalloproteinase-9 (MMP-9), have been evaluated to predict the development of DCI for timely management. This prospective cohort study was done on 98 patients with aSAH presenting within 72 h of the ictus.

Comparison of Ultrasound Parameters and Clinical Parameters in Airway Assessment for Prediction of Difficult Laryngoscopy and Intubation: An Observational Study.

Background and objective The primary responsibility of the anesthesiologist is to provide adequate oxygenation and ventilation to the patient by securing the airway. Prediction of Cormack-Lehane (CL) grading preoperatively helps patients' airway management during anesthesia induction, particularly in difficult intubations. Our study aims to evaluate airway assessment modalities using ultrasound and conventional clinical screening methods for predicting difficult laryngoscopy and intubation.

Anesthetic Considerations for a Patient with Autosomal Dominant Polycystic Kidney Disease, Having a Ruptured Intracranial Aneurysm for Endovascular Coiling: A Case Report.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder affecting 1 in 1,000 people worldwide. Intracranial aneurysms are an important extrarenal complication with a prevalence of 9 to 12%. The definitive management of an aneurysm includes surgical clipping or endovascular coiling.

Chromosome-Level Genome Sequence of () Strain CDC216-162, Isolated from an Afghanistan Clinical Case.

PacBio and Illumina MiSeq platforms were used for genomic sequencing of a strain isolated from a patient infected in Pakistan. PacBio assemblies were generated using Flye v2.4 and polished with MiSeq data.

Draft Genome Sequences of () , () , and () , Potential Etiological Agents of Diffuse Cutaneous Leishmaniasis.

We present here the draft genome sequences of () , () , and () , potential etiological agents of diffuse cutaneous leishmaniasis (DCL). Sequence data were obtained using PacBio and MiSeq platforms. The PacBio assemblies generated using Canu v1.

First Draft Genome Sequence of Leishmania (Viannia) lainsoni Strain 216-34, Isolated from a Peruvian Clinical Case.

We present here the first draft genome sequence of Leishmania (Viannia) lainsoni strain 216-34, sequenced using PacBio and MiSeq platforms. PacBio contigs were generated from assemblies using CANU version 1.6 and polished using Illumina reads.

Friedreich's ataxia (GAA)n•(TTC)n repeats strongly stimulate mitotic crossovers in Saccharomyces cerevisae.

Expansions of trinucleotide GAA•TTC tracts are associated with the human disease Friedreich's ataxia, and long GAA•TTC tracts elevate genome instability in yeast. We show that tracts of (GAA)(230)•(TTC)(230) stimulate mitotic crossovers in yeast about 10,000-fold relative to a "normal" DNA sequence; (GAA)(n)•(TTC)(n) tracts, however, do not significantly elevate meiotic recombination. Most of the mitotic crossovers are associated with a region of non-reciprocal transfer of information (gene conversion).

Large-scale expansions of Friedreich's ataxia GAA repeats in yeast.

Large-scale expansions of DNA repeats are implicated in numerous hereditary disorders in humans. We describe a yeast experimental system to analyze large-scale expansions of triplet GAA repeats responsible for the human disease Friedreich's ataxia. When GAA repeats were placed into an intron of the chimeric URA3 gene, their expansions caused gene inactivation, which was detected on the selective media.

Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair.

Expansion of triplex-forming GAA/TTC repeats in the first intron of FXN gene results in Friedreich's ataxia. Besides FXN, there are a number of other polymorphic GAA/TTC loci in the human genome where the size variations thus far have been considered to be a neutral event. Using yeast as a model system, we demonstrate that expanded GAA/TTC repeats represent a threat to eukaryotic genome integrity by triggering double-strand breaks and gross chromosomal rearrangements.

Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins.

DNA inverted repeats (IRs) are hotspots of genomic instability in both prokaryotes and eukaryotes. This feature is commonly attributed to their ability to fold into hairpin- or cruciform-like DNA structures interfering with DNA replication and other genetic processes. However, direct evidence that IRs are replication stall sites in vivo is currently lacking.

Intrachromosomal gene amplification triggered by hairpin-capped breaks requires homologous recombination and is independent of nonhomologous end-joining.

Gene amplification is one of the major mechanisms of acquisition of drug resistance and activation of oncogenes in tumors. In mammalian cells, amplified chromosomal regions are manifested cytogenetically as extrachromosomal double minutes (DMs) and chromosomal homogeneously staining regions (HSRs). We recently demonstrated using yeast model system that hairpin-capped double strand breaks (DSBs) generated at the location of human Alu-quasipalindromes can trigger both types of gene amplification.

Hairpin- and cruciform-mediated chromosome breakage: causes and consequences in eukaryotic cells.

Chromosomes of many eukaryotic organisms including humans contain a large number of repetitive sequences. Several types of commonly present DNA repeats have the capacity to adopt hairpin and cruciform secondary structures. Inverted repeats, AT- and GC-rich micro- and minisatellites, comprising this class of sequence motifs, are frequently found in chromosomal regions that are prone for gross rearrangements in somatic and germ cells.

Inverted DNA repeats channel repair of distant double-strand breaks into chromatid fusions and chromosomal rearrangements.

Inverted DNA repeats are known to cause genomic instabilities. Here we demonstrate that double-strand DNA breaks (DSBs) introduced a large distance from inverted repeats in the yeast (Saccharomyces cerevisiae) chromosome lead to a burst of genomic instability. Inverted repeats located as far as 21 kb from each other caused chromosome rearrangements in response to a single DSB.

The pattern of gene amplification is determined by the chromosomal location of hairpin-capped breaks.

DNA palindromes often colocalize in cancer cells with chromosomal regions that are predisposed to gene amplification. The molecular mechanisms by which palindromes can cause gene amplification are largely unknown. Using yeast as a model system, we found that hairpin-capped double-strand breaks (DSBs) occurring at the location of human Alu-quasipalindromes lead to the formation of intrachromosomal amplicons with large inverted repeats (equivalent to homogeneously staining regions in mammalian chromosomes) or extrachromosomal palindromic molecules (equivalent to double minutes [DM] in mammalian cells).