59 research outputs found

    Malignant infantile osteopetrosis presenting as failure to thrive

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    Osteopetrosis or marble bone disease is a heterogeneous group of hereditary disorders in which deficient oraltered function of osteoclasts results into defective resorption of bone with resultant sclerosis. We report a caseof infantile osteopetrosis who presented to us as failure to thrive, severe anemia and developmental delay. Thiscase report highlights the importance of this rare disease as a differential diagnosis in infants with failure tothrive, to avoid the potentially treatable entity

    Pathogenic variability in Exserohilum turcicum and identification of resistant sources to turcicum leaf blight of maize (Zea mays L.)

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    Turcicum leaf blight of maize incited by Exserohilum turcicum (Pass.) Leonard and Suggs is the major limiting factor of maize production in temperate agro-ecologies. Disease management through host plant resistance is the most effective strategy. In the present study among 26 maize genotypes which were initially screened for resistance against E. turcicum under field conditions, 8 genotypes viz., PS 39, CML 451, CML 470, CML 472, VL 1030, VL 1018140, VL1018527 and SMI178-1 were found resistant when screened against twelve isolates of E. turcicum under artificial epiphytotic conditions. Eight genotypes viz., PS45, CML165, CML459, VL1249, VL0536, SMC-5, SMC-3 and KDL 211 were found moderately resistant with disease grade ranged from 2.1-2.5. These maize genotypes possess resistance to turcicum leaf blight can be used successfully in developing high yielding early maturing varieties for high altitude temperate agro-ecologies. The fungus E. turcicum is highly variable in nature. Variability studies on pathogenicity were conducted on twelve isolates of E. turcicum on eleven putative differential maize lines. During the present study a wide pathogenic variation was observed among the twelve isolates of E. turcicum. Cluster analysis on the basis of similarity or dissimilarity in reaction types exhibited by the differential hosts, clustered the isolates into 6 pathogenic groups. The isolates belonged to higher altitudes (Kti 10, Kti11, Kti5) were found to be more aggressive as compared to the isolates of low altitude areas

    Medical conditions mimicking the acute surgical abdomen in children

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    Background: We present our experience with children landing up in our pediatric surgery emergency with potentially confounding medical conditions that evade diagnosis. It is imperative to apply sound clinical judgement in the evaluation of these patients so that an unnecessary laparotomy can be avoided but, at the same time, a lifesaving intervention is not denied.Patients and methods: This is a retrospective descriptive analysis pertaining to all patients who were admitted in our department from 1 January 2014 to 31 July 2017. A total of 27 867 patients presented to our out-patient department of these, 3034 were admitted to our ward. A total of 1531 surgeries were performed, of which 288 were for various abdominal surgical conditions. A total of 16 patients, representing 0.5 % of the admissions, were eventually found to have an acute abdomen secondary to a medical cause.Results: Out of the above 16 patients, 10 had to undergo exploratory laparotomy (62.5%). Eight patients of the 10 operated had a negative laparotomy. Two of the 10 operated were found to have a surgically correctable cause, one with ovarian torsion and one with severe colonic edema secondary to Kawasaki’s disease causing intestinal obstruction.Conclusion: Although eight patients with negative laparotomy result constitute only 0.5% of all the surgeries and 2.7% of all the laparotomies, it still forms the bulk (i.e. 8/16=50%) of the patients with underlying medical cause of the surgical abdomen. There were two deaths, representing a mortality of 12.5% (2/16=12.5%), with one in the operated group and one in the nonoperated group. This is why we want to stress the importance of caution and sound clinical judgement in evaluating this subset of patients.Keywords: acute abdomen, medical conditions mimicking, surgical abdomen in childre

    Symmetric and Asymmetric Multilevel Inverter Topologies With Reduced Device Count

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    In this work, two new topologies of single-phase hybrid multilevel inverters for symmetrical and asymmetrical configurations are presented for use in drives and control of electrical machines and the connection of renewable energy sources. The proposed topology uses 2 dc sources, 12 switches, 1 flying capacitor, and 3 diodes to generate boosted 13-levels and 17-levels for symmetric and asymmetric configuration, respectively. Self-voltage balancing of its capacitor voltage regardless of load type, load dynamics, or modulation index is a key advantage of the suggested design. The higher performance of proposed topologies in terms of the total number of switches, TSV, THD, switch stress, and dc sources are demonstrated by comparing those with recently published topologies. In addition, a widely employed nearest level control modulation approach is used to provide output voltage levels with low THD. Finally, experiments were undertaken to validate the performance of the suggested topology. 2013 IEEE.This work was supported in part by Qatar University Research Grant from Qatar University, Doha, Qatar, under Grant QUCP-CENG-2020-2 and Grant QUCP-CENG-2022-571; and in part by the Qatar National Library, Doha.Scopu

    Caputo fractional MHD casson fluid flow over an oscillating plate with thermal radiation

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    The effect of the thermal radiation on the MHD Casson fluid along with the fractional derivative in an oscillating vertical plate is elucidated. More exactly, the Caputo fractional model is utilized in developing the governing equations. Besides, the influence of the buoyancy force due to the temperature gradient has also been considered. The derived fractional partial differential equations are converted into ordinary differential equations by using the Laplace transform technique and then are solved for analytical solutions via the characteristic method. The inversion of the Laplace transformation is obtained through the numerical approach of Zakian. The effects of various physical parameters on the velocity and temperature profiles, Nusselt number, and skin friction have been analyzed and depicted in graphs and tables. The distribution of the velocity and temperature either in viscous or Casson fluid do enhance by the fractional parameter

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

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    \ua9 The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. 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 \u27solved\u27 or \u27possibly solved\u27 ∼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% \u27solved\u27 and ∼13% \u27possibly solved\u27 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

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

    Get PDF
    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

    Phytoliths as proxies of the past

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    Phytoliths are silica casts of plant cells, created within and between living tissues across almost all plant clades. Because they are abundant, durable and distinctive, phytoliths are used to deduce historic vegetation patterns and human uses across the fields of archeology, paleoethnobotany, paleoecology, and historical ecology, particularly at sites where preservation of larger plant-derived samples is poor. Nonetheless, phytolith research has recently contributed to advances in biogeochemical cycling and carbon sequestration. Although much progress has been made over the past few decades, some basic methodological concerns in phytolith systematics and Si cycling still hamper the overall development of this emerging field of science. Here, we first review basic scenarios of phytolith studies across different disciplines of science and then advocate interdisciplinary phytolith research to overcome the challenges of phytolith systematics, inform the representation of Si and C cycling in biogeochemical models, and improve the utility of phytoliths as proxies in archeology and paleontology.This study has benefited from the support of the University Grants commission (UGC), India provided to Irfan Rashid under Raman fellowship Programme.Peer Reviewe
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