An adapted walking intervention for a child with Pitt Hopkins syndrome.

Purpose: To investigate the effects of a community-based adapted walking intervention on a child with Pitt Hopkins syndrome (PTHS).

Methods: A four-year old boy with PTHS participated in a 12-week intervention comprising five one-hour long walking sessions per week at a local daycare. Walking sessions used the Upsee mobility device (Firefly by Leckey Ltd.

Comparative Genomic Analysis of Two Serotype 1/2b Isolates from Analogous Environmental Niches Demonstrates the Influence of Hypervariable Hotspots in Defining Pathogenesis.

The vast majority of clinical human listeriosis cases are caused by serotype 1/2a, 1/2b, 1/2c, and 4b isolates of . The ability of to establish a systemic listeriosis infection within a host organism relies on a combination of genes that are involved in cell recognition, internalization, evasion of host defenses, and survival and growth. Recently, whole genome sequencing and comparative genomic analysis have proven to be powerful tools for the identification of these virulence-associated genes in .

Joint arthropathy at the cranio-vertebral junction. Scintigraphic patterns on bone SPECT/CT.

Osteoarthritic degeneration at the cranio-vertebral junction (CVJ) is an underrecognized source of suboccipital and neck pain, limited range of motion and cervicogenic headaches. Correlation of radiographic findings with clinical symptoms is often difficult. Limited evidence currently exists to support the use of bone single-photon emission computed tomography/computed tomography (SPECT/CT) in this subgroup of patients.

Pulmonary Vasculopathy Associated with FIGF Gene Mutation.

Vascular endothelial growth factor (VEGF)-D is capable of inducing angiogenesis and lymphangiogenesis through signaling via VEGF receptor (VEGFR)-2 and VEGFR-3, respectively. Mutations in the FIGF (c-fos-induced growth factor) gene encoding VEGF-D have not been reported previously. We describe a young male with a hemizygous mutation in the X-chromosome gene FIGF (c.

Does a rat release a soaked conspecific due to empathy?

In Experiment 1, rats choosing in an E maze preferred to release a rat standing in a pool of water to dry ground over a rat already standing on dry ground. Five additional experiments showed that the choosing rat's preference for releasing the wet rat was maintained by two separable outcomes: (1) the social contact offered by the released rat and (2) the reinforcing value of proximity to a pool of water. These results call into question Sato et al.

The 'three-legged stool': a system for spinal informed consent.

Many hospitals do not have a structured process of consent, the attainment of which can often be rather 'last-minute' and somewhat chaotic. This is a surprising state of affairs as spinal surgery is a high-risk surgical specialty with potential for expensive litigation claims. More recently, the Montgomery ruling by the United Kingdom Supreme Court has placed the subject of informed consent into the spotlight.

Residents' Positive and Negative Relationship Networks in a Nursing Home.

Person-centered care involves consideration of long-term care residents' lived experience, including social relationships. The current cross-sectional study investigated co-resident social networks in three units of a 94-bed Australian nursing home, including an 18-bed dementia-specific unit (DSU). Six care staff were interviewed.

Vinylene-Linked Oligothiophene-Difluorobenzothiadiazole Copolymer for Transistor Applications.

The synthesis of the novel donor-acceptor monomer 4,7-bis[(E)-2-(5-bromo-3-dodecylylthiophen-2-yl)ethenyl]-5,6-difluoro-2,1,3-benzothiadiazole (FBT-V2T2) is reported. Polymerization with 4,4'-ditetradecyl-5,5'-bistrimethylstannyl-2,2'-bithiophene afforded a highly crystalline polymer that aggregated strongly in solution. Polymer films were well ordered resulting in high performance field-effect transistors with low onset voltages, negligible hysteresis, high channel current on/off ratios, and peak hole mobilities of up to 0.

Bariatric surgery and intellectual disability: Furthering evidence-based practice.

Background: Rates of morbid obesity are higher for individuals with intellectual disability (ID). Individuals with ID may find nutritional guidelines difficult to follow and many face personal and environmental barriers for physical activity. Bariatric surgery may reduce obesity related health comorbidities while promoting sustained weight loss in diverse populations.

Current Update on Interstitial Lung Disease of Infancy: New Classification System, Diagnostic Evaluation, Imaging Algorithms, Imaging Findings, and Prognosis.

Childhood interstitial lung disease represents a rare and heterogeneous group of diseases that can result in significant morbidity and mortality, some leading to death during infancy. CT is the imaging test of choice. Although many CT findings are nonspecific and a definitive diagnosis usually cannot be reached by CT alone, the interpreting radiologist is instrumental in defining disease extent and refining the diagnosis.

A Target-Based Whole Cell Screen Approach To Identify Potential Inhibitors of Mycobacterium tuberculosis Signal Peptidase.

The general secretion (Sec) pathway is a conserved essential pathway in bacteria and is the primary route of protein export across the cytoplasmic membrane. During protein export, the signal peptidase LepB catalyzes the cleavage of the signal peptide and subsequent release of mature proteins into the extracellular space. We developed a target-based whole cell assay to screen for potential inhibitors of LepB, the sole signal peptidase in Mycobacterium tuberculosis, using a strain engineered to underexpress LepB (LepB-UE).

Microbiologic contamination of a positive- and a neutral- displacement needleless intravenous access device in clinical use.

The use of a positive-displacement needleless intravenous access device was associated with lower microbial contamination rates compared with a neutral-displacement device when used on central venous catheters in hemato-oncology patients. In addition, rates of central line-associated bloodstream infection did not differ when either device was used.

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause. Cardiologists are often ill-equipped to manage these patients due to lack of training and exposure as well as the complete absence of practice guidelines to aid in the diagnosis and management of these disorders.

In vitro monitoring of time and dose dependent cytotoxicity of aminated nanoparticles using Raman spectroscopy.

Investigation of possible adverse health effects of nanomaterials, in a rapid multi-parametric fashion, has become increasingly important, due to their increased production and potential uses in a wide range of application areas, from cosmetics to pharmaceutics. Although conventional in vitro cytotoxicological techniques provide valuable information about the particle toxicity, the importance of gaining high content information in a single assay with the analysis of multiple parameters in a non-invasive and label-free way is still one of the biggest challenges in nanotoxicology. As a vibrational spectroscopic technique, the power of Raman spectroscopy for the analysis of cells, tissues and also nanoparticle localization within cells has been shown previously.

Draft Genome Sequences of Listeria monocytogenes Serotype 4b Strains 944 and 2993 and Serotype 1/2c Strains 198 and 2932.

Listeria monocytogenes is a foodborne pathogen and the causative agent of listeriosis among humans and animals. The draft genome sequences of L. monocytogenes serotype 4b strains 944 and 2993 and serotype 1/2c strains 198 and 2932 are reported here.

Evaluation of cytotoxicity profile and intracellular localisation of doxorubicin-loaded chitosan nanoparticles.

In the emerging field of nanomedicine, targeted delivery of nanoparticle encapsulated active pharmaceutical ingredients (API) is seen as a potential significant development, promising improved pharmacokinetics and reduced side effects. In this context, understanding the cellular uptake of the nanoparticles and subsequent subcellular distribution of the API is of critical importance. Doxorubicin (DOX) was encapsulated within chitosan nanoparticles to investigate its intracellular delivery in A549 cells in vitro.

Creatine ingestion augments dietary carbohydrate mediated muscle glycogen supercompensation during the initial 24 h of recovery following prolonged exhaustive exercise in humans.

Muscle glycogen availability can limit endurance exercise performance. We previously demonstrated 5 days of creatine (Cr) and carbohydrate (CHO) ingestion augmented post-exercise muscle glycogen storage compared to CHO feeding alone in healthy volunteers. Here, we aimed to characterise the time-course of this Cr-induced response under more stringent and controlled experimental conditions and identify potential mechanisms underpinning this phenomenon.

Kinetic Basis of Carbohydrate-Mediated Inhibition of Human Glucokinase by the Glucokinase Regulatory Protein.

The glucokinase regulatory protein (GKRP) is a competitive inhibitor of glucokinase (GCK), triggering its localization to the hepatocyte nucleus upon glucose deprivation. Here we establish the kinetic mechanism of GKRP action by analyzing its association with a genetically encoded, fluorescent variant of human GCK. Our results demonstrate that binding of GKRP to GCK involves two steps, formation of an initial encounter complex followed by conformational equilibration between two GKRP-GCK states.

Differentiating responses of lung cancer cell lines to Doxorubicin exposure: in vitro Raman micro spectroscopy, oxidative stress and bcl-2 protein expression.

The potential of Raman micro spectroscopy as an in vitro, non-invasive tool for clinical applications has been demonstrated in recent years, specifically for cancer research. To further illustrate its potential as a high content and label free technique, it is important to show its capability to elucidate drug mechanisms of action and cellular resistances. In this study, cytotoxicity assays were employed to establish the toxicity profiles for 24 hr exposure of lung cancer cell lines, A549 and Calu-1, to the commercially available drug, doxorubicin (DOX).

Oxadiazoles Have Butyrate-Specific Conditional Activity against Mycobacterium tuberculosis.

Mycobacterium tuberculosis is a global pathogen of huge importance which can adapt to several host niche environments in which carbon source availability is likely to vary. We developed and ran a phenotypic screen using butyrate as the sole carbon source to be more reflective of the host lung environment. We screened a library of ∼87,000 small compounds and identified compounds which demonstrated good antitubercular activity against M.

Water-soluble and photo-stable silver(I) dicarboxylate complexes containing 1,10-phenanthroline ligands: Antimicrobial and anticancer chemotherapeutic potential, DNA interactions and antioxidant activity.

The complexes [Ag2(OOC-(CH2)n-COO)] (n=1-10) (1-10) were synthesised and reacted with 1,10-phenanthroline (phen) to yield derivatives formulating as [Ag2(phen)x(OOC-(CH2)y-COO)]·zH2O (x=2 or 3; y=1-10; z=1-4) (11-20) which are highly water-soluble and photo-stable in aqueous solution. The phen derivatives 11-20 exhibit chemotherapeutic potential against Candida albicans, Escherichia coli, Staphylococcus aureus and Pseudomonas aeruginosa and against cisplatin-sensitive breast (MCF-7) and resistant ovarian (SKOV-3) cancer cell lines. Cyclic voltammetric analysis and DNA binding and intercalation studies indicate that the mechanism of action of 11-20 is significantly different to that of their silver(I) dicarboxylate precursors and they do not induce DNA damage or ROS generation in mammalian cells.

Silver nanoparticles induce pro-inflammatory gene expression and inflammasome activation in human monocytes.

A complete cytotoxic profile of exposure to silver (AgNP) nanoparticles investigating their biological effects on the innate immune response of circulating white blood cells is required to form a complete understanding of the risk posed. This was explored by measuring AgNP-stimulated gene expression of the pro-inflammatory cytokines interleukin-1 (IL-1), interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-α) in THP-1 monocytes. A further study, on human monocytes extracted from a cohort of blood samples, was carried out to compare with the AgNP immune response in THP-1 cells along with the detection of pro-IL-1β which is a key mediator of the inflammasome complex.