ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.

We report ATP1A3-associated rapid-onset dystonia-parkinsonism with an atypical presentation including myoclonus and exaggerated startle in four patients. Their prominence over parkinsonism prompted consideration of a syndromic diagnosis of myoclonus dystonia. ATP1α3 dysfunction in GABAergic neurons could explain these examination findings. The spectrum of ATP1A3-associated movement disorders includes myoclonus-dystonia.

Pattern formation in Faraday instability-experimental validation of theoretical models.

Two types of resonance-derived interfacial instability are reviewed with a focus on recent work detailing the effect of side walls on interfacial mode discretization. The first type of resonance is the mechanical Faraday instability, and the second is electrostatic Faraday instability. Both types of resonance are discussed for the case of single-frequency forcing. In the case of mechanical Faraday instability, inviscid theory can forecast the modal forms that one might expect when viscosity is taken into account. Experiments show very favourable validation with theory for both modal forms and onset conditions. Lowering of gravity is predicted to shift smaller wavelengths or choppier modes to lower frequencies. This is also validated by experiments. Electrostatic resonant instability is shown to lead to a pillaring mode that occurs at low wavenumbers, which is akin to Rayleigh Taylor instability. As in the case of mechanical resonance, experiments show favourable validation with theoretical predictions of patterns. A stark difference between the two forms of resonance is the observation of a gradual rise in the negative detuning instability in the case of mechanical Faraday and a very sharp one in the case of electrostatic resonance. This article is part of the theme issue 'New trends in pattern formation and nonlinear dynamics of extended systems'.

Cancer care continuum at a tertiary care centre in India during the Covid-19 pandemic and nationwide lockdown: Healthcare delivery through telemedicine.

Background The Covid-19 pandemic and subsequent lockdown in India caused disruptions in cancer treatment due to the restriction on movement of patients. We aimed to maintain continuity in cancer treatment during the lockdown through teleconsultations. We tried to reach out to our patients using telephonic consultations by establishing a Teleconsult Centre facility run by a team of doctors and patient navigators. Methods We telephonically contacted all patients who had outpatient appointments from 23 March to 30 April 2020 at our centre through the Teleconsult Centre to understand their current circumstances, feasibility of follow-up, local resources and offered best possible alternatives to continue cancer treatment, if required. Results Of the 2686 patients scheduled for follow-up during this period, we could contact 1783 patients in 9 working days. Through teleconsultations, we could defer follow-ups of 1034 patients (57.99%, 95% confidence interval [CI] 55.6%-60.3%), thus reducing the need for patients to travel to the hospital. Change in systemic therapy was made in 75 patients (4.2%, 95% CI 3.3%-5.2%) as per the requirements and available resources. Symptoms suggestive of disease progression were picked up in 12 patients (0.67%, 95% CI 0.35%-1.17%), who were advised to meet local physicians. Conclusion Our study suggests that the majority of patients on follow-up can be managed with teleconsultation in times of crisis. Teleconsultation has the potential of being one of the standard methods of patient follow-up even during periods of normalcy.

Biofilm-based simultaneous nitrification, denitrification, and phosphorous uptake in wastewater by Neurospora discreta.

Biological removal of nitrogen and phosphorous from wastewater conventionally involves multiple processing steps to satisfy the differing oxygen requirements of the microbial species involved. In this work, simultaneous nitrification, denitrification, and phosphorous removal from synthetic wastewater were achieved by the fungus Neurospora discreta in a single-step, biofilm-based, aerobic process. The concentrations of carbon, nitrogen, and phosphorous in the synthetic wastewater were systematically varied to investigate their effects on nutrient removal rates and biofilm properties. Biofilm growth was significantly (p < 0.05) affected by carbon and nitrogen, but not by phosphorous concentration. Scanning electron microscopy revealed the effects of nutrients on biofilm microstructure, which in turn correlated with nutrient removal efficiencies. The carbohydrate and protein content in the biofilm matrix decreased with increasing carbon and nitrogen concentrations but increased with increasing phosphorous concentration in the wastewater. High removal efficiencies of carbon (96%), ammonium (86%), nitrate (100%), and phosphorus (82%) were achieved under varying nutrient conditions. Interestingly, decreasing the phosphorus concentration increased the nitrification and denitrification rates, and decreasing the nitrogen concentration increased the phosphorus removal rates significantly (p < 0.05). Correlations between biofilm properties and nutrient removal rates were also evaluated in this study.

Clinical Spectrum of Monogenic Infantile-Onset Inflammatory Bowel Disease.

Very-early-onset IBD and infantile-onset IBD is extremely rare in children. There is paucity of data with regards to clinical profile and outcome of children with infantile-onset IBD from India. The clinicolaboratory profile, molecular genetic testing and treatment details of 8 children diagnosed with monogenic infantile-onset IBD during 2015-2020 is described here. The median age at onset of symptoms was 3 mo. Sibling death and consanguinity were noted in 4 (50%) each respectively. Diarrhea was the presentation in all (100%) and hematochezia in 5 (62%). Colonic ulcers on colonosopy was seen in 7 infants. The common mutation identified was IL-10R gene in 3 (42%) and LRBA gene mutation in 2 (25%). HSCT was done in 4 children and the rest were managed conservatively. Although there was no mortality in this series, two children (25%) were lost for follow-up.

Technological advancements in jaggery-making processes and emission reduction potential via clean combustion for sustainable jaggery production: An overview.

Jaggery is a kind of unrefined non-centrifugal sugar (NCS) used mainly in Asia, Africa, Latin America, and the Caribbean. Traditionally, jaggery is produced by concentrating sugarcane juice in open pans with the help of bagasse combustion. However, due to thermal energy loss with flue gases and an unscientific approach in plant construction, jaggery plants have a poor thermal efficiency of less than 25%, poor emission characteristics, and a high bagasse consumption rate. Advanced jaggery-making techniques use solar energy and heat pumps for jaggery production. However, these techniques are in the early stage of development, and the literature indicates that these techniques should be used in conjuction with traditional ones to improve the performance of jaggery making plants. This literature review describes advances in jaggery-making methods, critically analyzed them, and provides a qualitative comparison of these methods. Further, gaps in the existing literature are identified and reported for future research direction. In addition, efforts have been made to quantify and estimate the emissions reduction and bagasse consumption potentials from the traditional jaggery industry to make this rural industry a sustainable and profitable business for rural entrepreneurs. The comparison with the recently developed clean combustion device exhibits that the harmful emissions from the jaggery industry could be reduced drastically viz. 95%-98% of PM2.5; 92%-95% of CO, and 52-60% of CO2, while saving more than 35% of bagasse consumption. Implemented at a national scale, it may reduce nearly 3% of all harmful emissions in the country, which is equally applicable elsewhere.

COVID-19 and its relationship to particulate matter pollution - Case study from part of greater Chennai, India.

It is well known that atmospheric contamination, especially the particulate matter (PM), causes severe human diseases. Yet, presently air pollution levels have dropped primarily attributable across the nation lockdown forced in the wake of the novel Coronavirus outbreak. In this study, we have attempted to establish a conceivable relationship between Covid 19 and PM10-2.5, obtained from eleven airquality monitoring stations in Chennai city, India for both Pre and during Covid situations and its influence over Covid positive cases. The observations of the materials (+ve cases, PM 10, PM 2.5) collected proved that during precovid regime less polluted areas are indicated with less than 5 infection cases reflecting the healthy people and they are less vulnerable to covid except the few occurrence of foreign source indicating no community spread whereus most polluted spots of precovid regimes are indicated with more than 90% cases and indicated that people in pollution zones are succumbed to get infected quickly. However, during Covid the lockdown has considerably reduced the particulate suspension and the results revealed that the +ve cases are of the nature of community spreading through primary and secondary contacts as reported from the media. If Covid is a visible, brutally virulent, incredibly contagious pandemic that kills rapidly and mercilessly, air pollution is its unseen evil twin. Under the radar, but even ruthlessly, if Covid and PM paired together lead to murder without delay. This is a non-communicable disease (NCD) slow-motion pandemic, equivalent-if not exceeding-the catastrophic wrath of SARS-CoV-2.

A comprehensive review of the recent development and challenges of a solar-assisted biodigester system.

The extensive use of fossil fuels and the environmental effect of their combustion products have attracted researchers to look into renewable energy sources. In addition, global mass production of waste has motivated communities to recycle and reuse the waste in a sustainable way to lower landfill waste and associated problems. The development of waste to energy (WtE) technology including the production of bioenergy, e.g. biogas produced from various waste through Anaerobic Digestion (AD), is considered one of the potential measures to achieve the sustainable development goals of the United Nations (UN). Therefore, this study reviews the most recent studies from relevant academic literature on WtE technology (particularly AD technology) for biogas production and the application of a solar-assisted biodigester (SAB) system aimed at improving performance. In addition, socio-economic factors, challenges, and perspectives have been reported. From the analysis of different technologies, further work on effective low-cost technologies is recommended, especially using SAB system upgrading and leveraging the opportunities of this system. The study found that the performance of the AD system is affected by a variety of factors and that different approaches can be applied to improve performance. It has also been found that solar energy systems efficiently raise the biogas digester temperature and through this, they maximize the biogas yield under optimum conditions. The study revealed that the solar-assisted AD system produces less pollution and improves performance compared to the conventional AD system.

Identification and Characterization of Pediococcus Species from Piper betle (Betel) Leaves.

Betel vine is an edible creeper used in folk medicine to aid digestion since time immemorial. It is an ideal candidate deemed for the bioprospection of endophytic microorganisms with valuable attributes. This study aimed at the characterization of potential bacteria from fermented betel leaves. We report the presence of Pediococcus species with probiotic properties from betel. The isolated organisms were subjected to preliminary biochemical analysis and exhibited growth at 37°C and pH 6.7 with fermented glucose, sucrose and lactose without the evolution of CO2. Also, the organisms presented tolerance to 6.5% NaCl and 0.3% bile salt. The three isolates assimilated cholesterol dispensed in the medium and when exposed to E. coli evinced antagonism. Based on the 16S rRNA sequencing and phylogenetic tree analysis, the organisms were identified to be Pediococcus acidilactici and Pediococcus pentosaceus. Both the organisms when functionally characterized displayed beta-galactosidase, amylase and esterase activities, but Pediococcus pentosaceus had a substantial effect proving its candidature for probiotic applications.

Effect of spinning on the shape and stability of a pendent drop.

Assuming that we wish to measure the surface tension between two liquids by running a pendent drop experiment, we present calculations supporting the case for spinning the drop. For bridges, jets, etc., spinning a heavy fluid surrounded by a lighter fluid is strictly destabilizing. But we find that spinning a drop may be stabilizing and, if this is so, it leads to larger critical volumes, volumes where stability is lost, and thus more accurate measurements of surface tension. There are two observable patterns, one symmetric and the other unsymmetric, at the point of instability. The symmetric pattern leads to larger critical volumes. Our aim is to show how spinning can be used to achieve the symmetric pattern.

Influence of carbon source complexity on porosity, water retention and extracellular matrix composition of Neurospora discreta biofilms.

AIMS: To evaluate carbon source complexity as a process lever to impact the microstructure, chemical composition and water retention capacity of biofilms produced by Neurospora discreta. METHODS AND RESULTS: Biofilms were produced by nonpathogenic fungus N. discreta, using sucrose, cellulose or lignin as carbon source. The increase in complexity of carbon source from sucrose to lignin resulted in decreased water retention values (WRV) and wet weights of harvested biofilms. Confocal laser scanning microscopy was used to calculate porosity from bright-field images, and relative stained areas of cells and carbohydrates from fluorescence imaging of samples stained with Trypan blue and Alexa Fluor 488. Porosity and relative quantity of cells increased with increase in carbon source complexity while the amount of carbohydrates decreased. The chemical analysis of the extracted extracellular matrix (ECM) showed that biofilms grown on more complex carbon sources had lower carbohydrate and protein content, which also explains the lower WRV trend, as carbohydrates are hydrophilic. CONCLUSIONS: The nature of carbon source impacts the metabolic pathway of cells, thereby influencing the relative proportions of ECM and cells. This in turn impacts the microstructure, composition and water content of biofilms. SIGNIFICANCE AND IMPACT OF THE STUDY: This work shows that carbon source can be used as process lever to control the properties of biofilms and presents a novel view of biofilms as potentially useful biomaterials.

Arrested fungal biofilms as low-modulus structural bio-composites: Water holds the key.

Biofilms are self-assembling structures consisting of rigid microbial cells embedded in a soft biopolymeric extracellular matrix (ECM), and have been commonly viewed as being detrimental to health and equipment. In this work, we show that biofilms formed by a non-pathogenic fungus Neurospora discreta, are fungal bio-composites (FBCs) that can be directed to self-organize through active stresses to achieve specific properties. We induced active stresses by systematically varying the agitation rate during the growth of FBCs. By growing FBCs that are strong enough to be conventionally tensile loaded, we find that as agitation rate increases, the elongation strain at which the FBCs break, increases linearly, and their elastic modulus correspondingly decreases. Using results from microstructural imaging and thermogravimetry, we rationalize that agitation increases the production of ECM, which concomitantly increases the water content of agitated FBCs up to 250% more than un-agitated FBCs. Water held in the nanopores of the ECM acts a plasticizer and controls the ductility of FBCs in close analogy with polyelectrolyte complexes. This paradigm shift in viewing biofilms as bio-composites opens up the possibility for their use as sustainable, biodegradable, low-modulus structural materials.

Cyclometalated Ir(III) Complex as a Metalloligand and a Selective Cu(II) Sensor: Synthesis and Structural Characterization of a Heterometallic Tetranuclear Ir(III)/Cu(II) Complex.

A cyclometalated Ir(III) complex, [Ir(ppy)2(LH)] (2) [LH2 = 1,2-bis(pyridine-2-carboxamido)benzene; ppyH = 2-phenylpyridine] was synthesized and structurally characterized. [Ir(ppy)2(LH)] contains free donor sites and functions as a metalloligand. Accordingly, it interacts with a Cu(II) salt to afford the heterometallic tetranuclear complex, [{Ir(ppy)2(L)}2{Cu2Cl2}] (3). In the latter, a Cu2Cl2 dimer bridges the two cyclometalated Ir(III) units, resulting in a IrIII-CuII-CuII-IrIII motif. 2 also functions as a selective and reversible sensor for Cu2+, as revealed by quenching of its emission and subsequent revival of the luminescence signal upon addition of EDTA.

Bowel Migration of Dormant Chronic Ambulatory Peritoneal Dialysis Catheter: A Vexed Problem Not Avoided by Flushing.

Delayed bowel erosion by peritoneal dialysis catheter is rare with fewer than thirty cases having been reported in the literature. This complication is usually encountered when the catheter is kept dormant. Two cases have also been reported with catheters in active use. The risk factors for bowel erosion include immunosuppression, diverticulosis, and amyloidosis. An 80-year-old male with chronic kidney disease Stage 5 due to hypertensive nephrosclerosis underwent chronic ambulatory peritoneal dialysis catheter insertion. Due to improvement in the glomerular filtration rate and clinical parameters including extracellular fluid volume status, peritoneal dialysis was not initiated. Weekly catheter flushes were performed. After 5 months, he developed watery diarrhea after a regular flushing episode. Computed tomography scan revealed the catheter displaced into the sigmoid colon with the tip in the rectum. He was managed successfully with catheter removal alone and conservative treatment. He remains asymptomatic at 3-month follow-up. This case is presented to emphasize the fact that delayed bowel erosion can happen with dormant catheter even in the absence of risk factors. Periodic flushing has not prevented this complication in our patient. Perforations can be self-curing when diagnosed early and when patients present without features of peritonitis or sepsis. Such cases can be managed successfully with catheter removal alone.

Evaluation of Aintree LOSS, a community-based, multidisciplinary weight management service: outcomes and predictors of engagement.

Aintree LOSS is a community-based, multidisciplinary weight management programme for patients with severe and complex obesity, focusing on a flexible and individualized service with follow-up for up to 2 years. We evaluated all 2472 patients referred to the service between October 2009 and 2013. Demographic data were recorded at baseline, with the Index of Multiple Deprivation (IMD) used to measure socioeconomic deprivation. Weight was recorded at each visit. Mean body mass index at baseline was 45.6 (standard deviation 6.8), and 58.9% of patients lived in areas in the most deprived decile nationally. Of 2315 appropriate referrals, 1249 (55.1%) attended >2 visits; mean final weight loss was 3.50 ± 8.55 kg, and 24.1% achieved ≥5% weight loss. Of the patients, 754 (33.3%) attended for over 6 months; mean final weight loss was 4.94 ± 10 kg, and 34% achieved 5% weight loss. Multivariate logistic regression analysis showed increasing age, residence in a less deprived area and sleep apnoea to be independently associated with attendance for >6 months, and there was a linear relationship between 6-month attendance and deprivation quintile. Year-on-year analyses showed improvement in engagement over time, coinciding with efforts to improve access to the service. This work shows a multidisciplinary, community-based weight loss programme prioritizing a fully flexible and individualized approach functioning effectively in real-world practice. Maintaining engagement remains a challenge in weight loss programmes, and our results suggest younger patients living in areas with greater deprivation should be a target for efforts to improve engagement.

Dimensionality-Dependent Electrochemical Kinetics at the Single-Layer Graphene-Electrolyte Interface.

The theories to describe the rate at which electrochemical reactions proceed, to date, do not consider explicitly the dimensionality or the discreteness and occupancy of the energy levels of the electrodes. We show experimentally that such quantum mechanical aspects are important for dimensionally confined nanostructured materials and yield unusual variation of the kinetic rate constants with applied voltage in single-layer graphene. The observed divergence from conventional electrokinetics was ascribed to the linear energy dispersion as well as a nonzero density of states at the Dirac point in the graphene. The obtained results justify the use of density of states-based rate constants and considerably add to Marcus-Hush-Chidsey kinetics.

Screening methods for obstructive sleep apnoea in severely obese pregnant women.

Obstructive sleep apnoea (OSA) is an often-overlooked diagnosis, more prevalent in the obese population. Screening method accuracy, uptake and hence diagnosis is variable. There is limited data available regarding the obese pregnant population; however, many studies highlight potential risks of apnoeic episodes to mother and foetus, including hypertension, diabetes and preeclampsia. A total of 162 women with a body mass index (BMI) ≥ 35 were recruited from a tertiary referral hospital in the northwest of England. They were invited to attend three research antenatal clinics, completing an Epworth Sleepiness Scale (ESS) questionnaire at each visit. A monitor measuring the apnoea hypopnoea index (AHI) was offered at the second visit. Data taken from consent forms, hospital notes and hospital computer records were collated and anonymized prior to statistical analysis. A total of 12.1% of women had an ESS score of >10, suggesting possible OSA. Rates increased throughout pregnancy, although unfortunately, the attrition rate was high; 29.0% of women used the RUSleeping (RUS) meter, and only one (2.1%) met pre-specified criteria for OSA (AHI ≥ 15). This individual had OSA categorized as severe and underwent investigations for preeclampsia, eventually delivering by emergency caesarean section due to foetal distress. The accuracy of the ESS questionnaire, particularly the RUS monitor, to screen for OSA in the pregnant population remains unclear. Further research on a larger sample size using more user-friendly technology to confidently measure AHI would be beneficial. There are currently no guidelines regarding screening for OSA in the obese pregnant population, yet risks to both mother and foetus are well researched.

Changes in metabolic parameters in patients with severe mental illness over a 10-year period: A retrospective cohort study.

BACKGROUND: Diabetes, obesity and metabolic syndrome are highly prevalent in patients with severe mental illness and can impose a major physical health burden. OBJECTIVE: To determine how anthropometric and metabolic features changed over time in a retrospective cohort of people with Severe Mental Illness living in Cheshire, UK. METHODS: In all, 1307 individuals on the severe mental illness Register were followed up between 2002 and 2012 in UK general practice. Subjects were identified through a pseudanonymised search of general practice registers. RESULTS: Baseline body mass index was 28.6 kg/m2 increasing to 31.0 at 10-year follow-up ( r2 = 0.84; p = 0.0002). There was a significant increase in fasting blood glucose from 5.72 to 6.79 mmol/L ( r2 = 0.48; p = 0.026). Correspondingly, there was a strong positive univariate relation between increase in body mass index and fasting blood glucose ( r2 = 0.54; p < 0.0001) taking into account all measurements. Fasting blood glucose also increased slightly with age ( p = 0.028). With increasing use of statins, total cholesterol fell from 4.5 to 3.9 mmol/L ( r2 = 0.88; p = 0.0001), as did low-density lipoprotein cholesterol from 3.43 to 2.35 mmol/L ( r2 = 0.94; p = 0.0001). In multivariate models, adjusting for age, gender, smoking and blood pressure, each unit increase in body mass index (odds ratio = 1.07 [1.01, 1.13]; p = 0.031) and triglycerides (odds ratio = 1.28 (1.06, 1.55); p = 0.009) was independently associated with an increased risk of having type 2 diabetes. CONCLUSION: Increasing body mass index relates to increasing rates of dysglycaemia over time. Measures to encourage weight reduction should be key strategies to reduce dysglycaemia rates in severe mental illness. Prescribing statins may have been effective in improving the lipid profile in this group.