A rare case of beta-ketothiolase deficiency in identical twins

Betaketothiolase deficiency is a rare defect of isoleucine and ketone body metabolism which manifests as severe metabolic acidosis following common viral illnesses. A set of 1 year, 8 month-old identical male twins presented with similar symptoms in different time frames. Both of them had severe metabolic acidosis, hypoglycemia, and altered sensorium. Both twins tested positive for beta-ketothiolase deficiency by urine gas chromatography-mass spectrometry. The children responded to symptomatic treatment and are now growing well on a protein-restricted diet. Beta-ketothiolase deficiency is a rare disorder of amino acid metabolism with a favorable outcome if preventive measures are taken early

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

Influence of gestational age on eruption of primary teeth in Indian children - A prospective longitudinal study

Context: Eruption of primary teeth is the most anticipated event in a child's life. Genetics, gender, socio-economic status, gestational age are a few of the determinants of the primary teeth eruption. However, the effect of gestational age on the timing of primary teeth eruption among the Indian population has not been explored to date. Aim: The study was conducted to evaluate the influence of gestational age on time and sequence of eruption of primary teeth among children of Mysore. Settings and Design: A prospective longitudinal cohort study design was conducted at 'Baby Oral Health Promotion Clinic' at the Department of Paediatrics, JSS Hospital, Mysore. Methods and Material: 150 newborn babies were recruited by simple random sampling and followed up from birth to 36 months. Teeth present during each visit were recorded. Data were statistically analysed and interpreted. Statistical Analysis Used: Descriptive statistics, t-test for an independent sample, and Pearson's Chi-squared test were applied. Results: The mandibular central incisor was the first tooth to erupt. Statistically insignificant early eruption in males was noted in both term and preterm children. When the chronological ages were compared, the preterm group showed a statistically significant delay in the eruption of all the teeth. However, when the age was adjusted for prematurity, only the central incisors and second molars showed a statistically significant delay. Conclusions: Gestational age has a strong significant association with the eruption of primary teeth and maybe one of the strong predictors for delayed eruption among children of Mysore

A serial echocardiographic study of myocardial abscess in a patient surviving staphylococcal septicemia

2D echocardiography was performed on a 4-year-old child suffering from right thigh abscess due to MRSA infection following diagnosis of pericardial effusion by USG abdomen. It revealed myocardial abscess and pericardial effusion. This child underwent series of 2D echocardiographic studies which showed image appearance of myocardial abscess with its time course of healing

Voronoi Maps: An Approach to Individual-based Environmental Exposure Estimation

Estimating an individual\u27s environmental exposure is a complicated problem that depends on the amount of time of the individual\u27s exposure, the uncertain location of the individual, and the uncertainty in the levels of environmental factors based on available localized measurements. This problem is critical in the applications of environmental science and public health. In this paper we study the fundamental issues related to spatio-temporal uncertainty of human trajectories and environmental measurements and define a model of exposure uncertainty. We adopt a geometric data structure called the Voronoi diagram to interpolate environmental data, and utilize it in our proposed method to efficiently solve this problem. We evaluate the performance of the proposed method through experiments on both synthetic and real road networks. The experimental results show that our solution based on probabilistic routing aggregation is an efficient and extensible method for environmental exposure time estimation

Optimizing map labeling of point features based on an onion peeling approach

Map labeling of point features is the problem of placing text labels to corresponding point features on a map in a way that minimizes overlaps while satisfying basic rules for the quality. This is a critical problem in the application of cartography and geographical information systems (GIS). In this paper we study the fundamental issues related to map labeling of point features and develop a new genetic algorithm to solve this problem. We adopt a method called convex onion peeling and utilize it in our proposed convex onion peeling genetic algorithm (COPGA) to efficiently manage map labels of point features. The proposed algorithm takes advantage of a convex onion peeling structure to achieve better map label initialization and to enhance the evolutionary process. The performance of the proposed algorithm was evaluated through extensive experiments on both synthetic and real datasets. In experiments with an implementation of our algorithm using OpenMap, the results show that our genetic algorithm, based on convex onion peeling, is an efficient, robust, and extensible algorithm for automated map labeling of point features