Comparison of certain microbial counting methods which are currently commonly used in the soaking process

This study examines the interrelation of the test methods which are commonly applied in the leather industry for hide or skin soaking. For this purpose, five different bactericides were given during the soaking processes and after the presoaking process. The processes were measured at the first 20th min, 24th and 48th h. For this purpose, two different ATP test kits, dip slide and agar pour plate method were used in order to determine the microorganism load as RLU (Relative Light Units) or CFU (Colony Forming Units)/ml. The values with all methods were identified as highly different from each other, while the statistical analyses indicated positive Pearson correlation coefficients especially between the 24th and 48th h measurements. The appearance of a positive correlation between the different methodsunder constant conditions implied the effectiveness of the bactericides to the customer at the factory environment. The ATP test method and dip slide methods that are commonly used in the market are correct and convenient methods offered by some companies

Possible role of SCN4A skeletal muscle mutation in apnoea during seizure

SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A mutations in association with sudden infant death syndrome. Laryngospasm has also been proposed as a contributory mechanism to some cases of sudden unexpected death in epilepsy (SUDEP). We report an infant with EEG‐confirmed seizures and recurrent apneas. Whole‐exome sequencing identified a known pathogenic mutation in the SCN4A gene that has been reported in several unrelated families with myotonic disorder. We propose that the SCN4A mutation contributed to the apneas in our case, irrespective of the underlying cause of the epilepsy. We suggest this supports the notion that laryngospasm may contribute to some cases of SUDEP, and implicates a possible shared mechanism between a proportion of sudden infant deaths and sudden unexpected deaths in epilepsy

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management. We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions. We recruited 6001 participants in the first 43 months. Initial genetic analyses ‘solved’ or ‘possibly solved’ ∼56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Becker muscular dystrophy) delivered a ∼59% ‘solved’ and ∼13% ‘possibly solved’ outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research. In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally

Approximate analytical solutions to the double-stance dynamics of the lossy spring-loaded inverted pendulum

This paper introduces approximate time-domain solutions to the otherwise non-integrable double-stance dynamics of the 'bipedal' spring-loaded inverted pendulum (B-SLIP) in the presence of nonnegligible damping. We first introduce an auxiliary system whose behavior under certain conditions is approximately equivalent to the B-SLIP in double-stance. Then, we derive approximate solutions to the dynamics of the new system following two different methods: (i) updated-momentum approach that can deal with both the lossy and lossless B-SLIP models, and (ii) perturbation-based approach following which we only derive a solution to the lossless case. The prediction performance of each method is characterized via a comprehensive numerical analysis. The derived representations are computationally very efficient compared to numerical integrations, and, hence, are suitable for online planning, increasing the autonomy of walking robots. Two application examples of walking gait control are presented. The proposed solutions can serve as instrumental tools in various fields such as control in legged robotics and human motion understanding in biomechanics

Discriminant Validity And Reliability Of The Turkish Version Of Informant Questionnaire On Cognitive Decline In The Elderly (Iqcode-T)

The Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) has been used as a measure of cognitive decline in different cultures. The purpose of the study was to establish the validity and reliability of the Turkish version of IQCODE (IQCODE-T) and the ability of the questionnaire to distinguish between older adults with DSM-IV-TR dementia (n = 100) and healthy control participants (n = 60). In addition, the power of the IQCODE-T to distinguish between patients with depression and dementia was investigated. The Mini-Mental State Examination (MMSE) was performed on all participants and the IQCODE-T was administered to their informants. The IQCODE-T, which was not associated with age or education of the patients, significantly differentiated patients with dementia and controls. The IQCODE-T also correctly classified 73% of depressed patients as "non-demented". Because it is easy to administer, not associated with age/education and yields fewer false-positive results than the MMSE in depression, the IQCODE-T can be used in the detection of dementia.WoSScopu

Possible axonal regrowth in late recovery from the minimally conscious state

We used diffusion tensor imaging (DTI) to study 2 patients with traumatic brain injury. The first patient recovered reliable expressive language after 19 years in a minimally conscious state (MCS); the second had remained in MCS for 6 years. Comparison of white matter integrity in the patients and 20 normal subjects using histograms of apparent diffusion constants and diffusion anisotropy identified widespread altered diffusivity and decreased anisotropy in the damaged white matter. These findings remained unchanged over an 18-month interval between 2 studies in the first patient. In addition, in this patient, we identified large, bilateral regions of posterior white matter with significantly increased anisotropy that reduced over 18 months. In contrast, notable increases in anisotropy within the midline cerebellar white matter in the second study correlated with marked clinical improvements in motor functions. This finding was further correlated with an increase in resting metabolism measured by PET in this subregion. Aberrant white matter structures were evident in the second patient’s DTI images but were not clinically correlated. We propose that axonal regrowth may underlie these findings and provide a biological mechanism for late recovery. Our results are discussed in the context of recent experimental studies that support this inference

Heterogeneity of PNPT1 neuroimaging: Mitochondriopathy, interferonopathy or both?

© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.Background: Biallelic variants in PNPT1 cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA processing where it has a dual role in the import of small RNAs into mitochondria and in preventing the formation and release of mitochondrial double-stranded RNA into the cytoplasm. This, in turn, prevents the activation of type I interferon response. Detailed neuroimaging findings in PNPT1-related disease are lacking with only a few patients reported with basal ganglia lesions (Leigh syndrome) or non-specific signs. Objective and methods: To document neuroimaging data in six patients with PNPT1 highlighting novel findings. Results: Two patients exhibited striatal lesions compatible with Leigh syndrome; one patient exhibited leukoencephalopathy and one patient had a normal brain MRI. Interestingly, two unrelated patients exhibited cystic leukoencephalopathy resembling RNASET2-deficient patients, patients with Aicardi-Goutières syndrome (AGS) or congenital CMV infection. Conclusion: We suggest that similar to RNASET2, PNPT1 be searched for in the setting of cystic leukoencephalopathy. These findings are in line with activation of type I interferon response observed in AGS, PNPT1 and RNASET2 deficiencies, suggesting a common pathophysiological pathway and linking mitochondrial diseases, interferonopathies and immune dysregulations