Lubag Syndrome (X-linked Dystonia Parkinsonism) Case Study of Mr G. Infante

Sex-linked dystonia parkinsonism (XDP) also known as Lubag Syndrome is a rare sex-linked genetic progressive movement disorder affecting almost exclusively males from the province of Capiz in the Philippines and their descendants. At the Mater Centre for Neurosciences we have recently treated two patients with XDP utilising Deep Brain Stimulation (DBS) implants. Mr G. Infante was the second patient to be treated, the first being his uncle. Mr G. Infante’s case was brought to the attention of the Mater Centre for Neurosciences at South Brisbane after the success of his uncle’s treatment two years prior. In the three years from when Mr G. Infante’s dystonia symptoms were first noticed, his condition progressively worsened until he was wheelchair bound. With severe chronic pain, unable to walk, difficulties talking and swallowing, Mr G’s quality of life was severely impacted by XDP. XDP is a movement disorder considered a variation to Parkinson’s Disease. The difference being that the XDP starts with a long period of dystonia that eventually evolves into the tremor and associated symptoms typical of Parkinson’s Disease. Due to the similarity of the conditions the patient’s needs and treatment methods, both medical and surgical, are almost identical. Deep brain stimulation surgery involves implantation of electrodes into specific regions of the brain. The electrodes are then used to deliver finely tuned electrical currents in order to reduce the signs and symptoms of both neuropsychiatric and movement disorders such as Parkinson’s and XDP. The high frequency electrical charges sent to deep structures in the brain stimulate or shut down nerve cells around the electrode. The areas of the brain that the electrodes target are thought to participate in the circuitry involved and effectively disrupts these processes and reduces the symptoms of the disease. This paper presents the journey of Mr G. Infante’s XDP and DBS and provides an explanation of how DBS works to improve the quality of life for patients who suffer from XDP

SambaKodiPi A Personal File Server and Media Center

Conventional file sharing and media viewing usually involve slow and tedious data transfer. This project aims to provide access convenience for sharing data and directviewing of media files by having file server (FS) and media center (MC) capability using Raspberry Pi (RPi). The system consists of several functionalities that were developed through iterative and incremental development. The resulting system has its FS function catered by Samba program and its MC function catered by Kodi program. Direct MC output is on highdefinition television (HDTV). The web-based user interface (WebUI) provides administrative functions for the system, its FS and users management and indirect access to its MC function through web player for all registered users. The system has undergone several testing processes, and it is a working prototype of an economical and feasible file server and media center using RPi. The system can still be improved with other functions and features in the future

Extensive alternative splicing within the amino-propeptide coding domain of α2(XI) procollagen mRNAs: Expression of transcripts encoding truncated pro-α chains

Heterogeneity in type XI procollagen structure is extensive because all three α(XI) collagen genes undergo complex alternative splicing within the amino-propeptide coding domain. Exon 7 of the human and exons 6-8 of the mouse α2(XI) collagen genes, encoding part of the amino-propeptide variable region, have recently been shown to be alternatively spliced. We show that exon 6-containing mRNAs for human α2(XI) procollagen are expressed at 28 weeks in fetal tendon and cartilage but not at 38-44 days or 11 weeks. In the mouse, exon 6 is expressed in chondrocytes from 13.5 days onward. We recently identified conserved sequences within intron 6 of the human and mouse α2(XI) collagen genes, containing additional consensus splice acceptor and donor sites that potentially increase the size of exon 7, dividing it into three parts, designated 7A, 7B, and 7C. We show by reverse transcription polymerase chain reaction and in situ hybridization that these potential splice sites are used to yield additional α2(XI) procollagen mRNA splice variants that are expressed in fetal tissues. In human, expression of exon 7B-containing transcripts may be developmental stage-specific. Interestingly, inclusion of exon 7A or exon 7B in human and mouse α2(XI) procollagen mRNAs, respectively, would result in the insertion of an in-frame termination codon, suggesting that some of the additional splice variants encode a truncated pro-α2(XI) chain

Determination of Tobramycin in M₉ Medium by LC-MS/MS: Signal Enhancement by Trichloroacetic Acid

It is well known that ion-pairing reagents cause ion suppression in LC-MS/MS methods. Here, we report that trichloroacetic acid increases the MS signal of tobramycin. To support studies of an in vitro pharmacokinetic/pharmacodynamic simulator for bacterial biofilms, an LC-MS/MS method for determination of tobramycin in M9 media was developed. Aliquots of 25 μL M9 media samples were mixed with the internal standard (IS) tobramycin-d5 (5 µg/mL, 25 µL) and 200 µL 2.5% trichloroacetic acid. The mixture (5 µL) was directly injected onto a PFP column (2.0 × 50 mm, 3 µm) eluted with water containing 20 mM ammonium formate and 0.14% trifluoroacetic acid and acetonitrile containing 0.1% trifluoroacetic acid in a gradient mode. ESI+ and MRM with ion m/z 468 → 324 for tobramycin and m/z 473 → 327 for the IS were used for quantification. The calibration curve concentration range was 50–25000 ng/mL. Matrix effect from M9 media was not significant when compared with injection solvents, but signal enhancement by trichloroacetic acid was significant (∼3 fold). The method is simple, fast, and reliable. Using the method, the in vitro PK/PD model was tested with one bolus dose of tobramycin

Antibiotic resistance and plasmid profiling of Vibrio parahaemolyticus isolated from cockles (Anadara granosa) at Tanjung Karang, Kuala Selangor

A total of sixty V. parahaemolyticus strains isolated from local cockles (Anadara granosa) were investigated by their antibiotic resistance patterns and plasmid profiles. The isolates showed multiple resistances towards most of the antibiotics tested. All strains of V. parahaemolyticus isolated harbored 1-3 plasmids, with sizes ranging from 2.7 to 54 kb. All V. parahaemolyticus strains showed high multiple antibiotics in frequencies of 0.58 - 0.94 indicating that the strains were derived from high-risk sources. In addition, no particular plasmid profile was predictive of a particular pattern of antibiotic susceptibility. These findings are essential because of the suggested involvement of seafood especially shellfish and environment in transmission of this pathogen to human. Thus, indicating that seafood may be a source of food- acquired antibiotic resistant bacteria to consumer

Development of an in vitro cell system from zebrafish suitable to study bone cell differentiation and extracellular matrix mineralization

Mechanisms of bone formation and skeletal development have been successfully investigated in zebrafish using a variety of in vivo approaches, but in vitro studies have been hindered due to a lack of homologous cell lines capable of producing an extracellular matrix (ECM) suitable for mineral deposition. Here we describe the development and characterization of a new cell line termed ZFB1, derived from zebrafish calcified tissues. ZFB1 cells have an epithelium-like phenotype, grow at 28 degrees C in a regular L-15 medium supplemented with 15% of fetal bovine serum, and are maintained and manipulated using standard methods (e.g., trypsinization, cryopreservation, and transfection). They can therefore be propagated and maintained easily in most cell culture facilities. ZFB1 cells show aneuploidy with 2n=78 chromosomes, indicative of cell transformation. Furthermore, because DNA can be efficiently delivered into their intracellular space by nucleofection, ZFB1 cells are suitable for gene targeting approaches and for assessing gene promoter activity. ZFB1 cells can also differentiate toward osteoblast or chondroblast lineages, as demonstrated by expression of osteoblast- and chondrocyte-specific markers, they exhibit an alkaline phosphatase activity, a marker of bone formation in vivo, and they can mineralize their ECM. Therefore, they represent a valuable zebrafish-derived in vitro system for investigating bone cell differentiation and extracellular matrix mineralization.FISHCELL project [PTDC/MAR/105313/2008]; Portuguese Science and Technology Foundation (FCT); European Regional Development Fund (ERDF) through the COMPETE Program; National Fund through FCT [PEst-C/MAR/LA0015/2011]; FCT [SFRH/BPD/39189/2007]; Association of European Marine Biological Laboratories through the ASSEMBLE project [FP7/227799]info:eu-repo/semantics/publishedVersio

Corticomotoneuronal function and hyperexcitability in acquired neuromyotonia

Acquired neuromyotonia encompasses a group of inflammatory disorders characterized by symptoms reflecting peripheral nerve hyperexcitability, which may be clinically confused in the early stages with amyotrophic lateral sclerosis. Despite a clear peripheral nerve focus, it remains unclear whether the ectopic activity in acquired neuromyotonia receives a central contribution. To clarify whether cortical hyperexcitability contributes to development of clinical features of acquired neuromyotonia, the present study investigated whether threshold tracking transcranial magnetic stimulation could detect cortical hyperexcitability in acquired neuromyotonia, and whether this technique could differentiate acquired neuromyotonia from amyotrophic lateral sclerosis. Cortical excitability studies were undertaken in 18 patients with acquired neuromyotonia and 104 patients with amyotrophic lateral sclerosis, with results compared to 62 normal controls. Short-interval intracortical inhibition in patients with acquired neuromyotonia was significantly different when compared to patients with amyotrophic lateral sclerosis (averaged short interval intracortical inhibition acquired neuromyotonia 11.3 ± 1.9%; amyotrophic lateral sclerosis 2.6 ± 0.9%, P < 0.001). In addition, the motor evoked potential amplitudes (acquired neuromyotonia 21.0 ± 3.1%; amyotrophic lateral sclerosis 38.1 ± 2.2%, P < 0.0001), intracortical facilitation (acquired neuromyotonia −0.9 ± 1.3%; amyotrophic lateral sclerosis −2.3 ± 0.6%, P < 0.0001), resting motor thresholds (acquired neuromyotonia 62.2 ± 1.6%; amyotrophic lateral sclerosis 57.2 ± 0.9%, P < 0.05) and cortical silent period durations (acquired neuromyotonia 212.8 ± 6.9 ms; amyotrophic lateral sclerosis 181.1 ± 4.3 ms, P < 0.0001) were significantly different between patients with acquired neuromyotonia and amyotrophic lateral sclerosis. Threshold tracking transcranial magnetic stimulation established corticomotoneuronal integrity in acquired neuromyotonia, arguing against a contribution of central processes to the development of nerve hyperexcitability in acquired neuromyotonia

What is the value and impact of quality and safety teams? A scoping review

<p>Abstract</p> <p>Background</p> <p>The purpose of this study was to conduct a scoping review of the literature about the establishment and impact of quality and safety team initiatives in acute care.</p> <p>Methods</p> <p>Studies were identified through electronic searches of Medline, Embase, CINAHL, PsycINFO, ABI Inform, Cochrane databases. Grey literature and bibliographies were also searched. Qualitative or quantitative studies that occurred in acute care, describing how quality and safety teams were established or implemented, the impact of teams, or the barriers and/or facilitators of teams were included. Two reviewers independently extracted data on study design, sample, interventions, and outcomes. Quality assessment of full text articles was done independently by two reviewers. Studies were categorized according to dimensions of quality.</p> <p>Results</p> <p>Of 6,674 articles identified, 99 were included in the study. The heterogeneity of studies and results reported precluded quantitative data analyses. Findings revealed limited information about attributes of successful and unsuccessful team initiatives, barriers and facilitators to team initiatives, unique or combined contribution of selected interventions, or how to effectively establish these teams.</p> <p>Conclusions</p> <p>Not unlike systematic reviews of quality improvement collaboratives, this broad review revealed that while teams reported a number of positive results, there are many methodological issues. This study is unique in utilizing traditional quality assessment and more novel methods of quality assessment and reporting of results (SQUIRE) to appraise studies. Rigorous design, evaluation, and reporting of quality and safety team initiatives are required.</p

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals &lt;1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data