22 research outputs found

    Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male

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    Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a challenge. We describe the case of a 15-year-old black African male who presented with abdominal distension, delayed growth and fatigue. Initial laboratory studies revealed severe anaemia (haemoglobin concentration 8 g/dL) and moderate thrombocytopenia (platelet count 80 × 109/L). A computed tomography scan of the abdomen showed an enlarged liver of 173 mm and massive splenomegaly of 27 mm. The diagnosis of GD was confirmed by reduced beta-glucocerebrosidase activity and heterozygous mutations in the GBA1 gene. The patient was managed at a dedicated paediatric haematology unit with enzyme replacement therapy and regular clinical, biochemical and radiological monitoring

    An environmental comparison of plastic and paper consumer carrier bags in South Africa: implications for the local manufacturing industry

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    The conventional consumer carrier bags have recently received considerable attention in South Africa. The choice of material for these bags, based on environmental preferences in the South African context, could significantly influence the local manufacturing industry. Life Cycle Assessment (LCA), an environmental management tool, has been applied to objectively evaluate and compare the overall environmental impacts of the complete life cycles (from raw material extraction to final disposal) of consumer plastic and paper carrier bags in South Africa. Paper bags have a higher carrying capacity compared to plastic bags and different use ratios were subsequently evaluated. Plastic bags have a lower environmental impact for use ratios of up to 2.5 plastic bags to one paper bag. Above this ratio the conclusions are not reliable. Paper bags would need to increase its recycled content significantly to be competitive in terms of environmental impacts. The re-use of thicker plastic, as proposed by the new plastic bag legislation, has the potential to significantly lower the impact of plastic bags.Die konvensionele gebruikersdrasakke het onlangs aansienlike aandag in Suid Afrika ontvang. Die keuse van materiaal vir hierdie sakke, wat gebaseer is op omgewingsvoorkeure in die Suid-Afrikaanse konteks, kan 'n wesenlike invloed uitoefen op die plaaslike vervaardigingsindustrie. Lewenssiklusanalise (LCA), 'n omgewingsbestuurgereedskap, is aangewend vir 'n objektiewe evaluasie en vergelyking van die algehele omgewingsimpakte van die totale lewenssiklus (vanaf grondstofekstraksie tot finale wegdoening) van gebruikersplastiek- en papierdrasakke in Suid-Afrika. Aangesien papiersakke 'n hoër drakapasiteit het in vergelyking met plastieksakke, is verskillende gebruiksverhoudings evalueer. Plastieksakke het 'n laer omgewingsimpak vir gebruiksverhoudings tot en met 2.5 plastieksakke vir elke papiersak. Die gevolgtrekkings van die studie is nie betroubaar vir hoër verhoudings nie. Die persentasie hergesirkuleerde materiaal in papiersakke moet verhoog word om mededingend te wees in terme van omgewingsimpak. Die hergebruik van dikker plastiek, soos voorgestel deur die nuwe plastieksakwetgewing, het die potensiaal om die algehele impak van plastieksakke wesenlik te verlaag.http://sajie.journals.ac.z

    Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review

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    Purpose: This systematic review represents an update to previous reviews of the literature addressing behavioral management of respiratory/phonatory dysfunction in individuals with dysarthria due to neurodegenerative disease. Method: Multiple electronic database searches and hand searches of prominent speech-language pathology journals were conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses standards. Results: The search yielded 1,525 articles, from which 88 met inclusion criteria and were reviewed by two blinded co-investigators. A large range of therapeutic approaches have been added to the evidence base since the last review, including expiratory muscle strength training, singing, and computer- and device-driven programs, as well as a variety of treatment modalities, including teletherapy. Evidence for treatment in several different population groups—including cerebellar ataxia, myotonic dystrophy, autosomal recessive spastic ataxia of Charlevoix–Saguenay, Huntington\u27s disease, multiple system atrophy, and Lewy body dementia—were added to the current review. Synthesis of evidence quality provided strong evidence in support of only one behavioral intervention: Lee Silverman Voice Treatment Program (LSVT LOUD) in people with Parkinson\u27s disease. No other treatment approach or population included in this review demonstrated more than limited evidence, reflecting that these approaches/populations require urgent further examination. Conclusion: Suggestions about where future research efforts could be significantly strengthened and how clinicians can apply research findings to their practice are provided

    Educating peers about human sexuality and birth control in natural settings: A social comparison perspective

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    Adolescents are being trained to play several important roles in educating peers about human sexuality and birth control. A social comparison perspective offers numerous advantages over a persuasive communication perspective in the design, implementation, and evaluation of such peer-education programs. In the social comparison perspective, peer educators serve as social referents, providing standards of knowledge and behavior for the contacts with respect to understanding sexuality and preventing pregnancy.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/24948/1/0000375.pd

    Locked twins: A rarity

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    AN ENVIRONMENTAL COMPARISON OF PLASTIC AND PAPER CONSUMER CARRIER BAGS IN SOUTH AFRICA: IMPLICATIONS FOR THE LOCAL MANUFACTURING INDUSTRY

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    <P>ENGLISH ABSTRACT: The conventional consumer carrier bags have recently received considerable attention in South Africa. The choice of material for these bags, based on environmental preferences in the South African context, could significantly influence the local manufacturing industry. Life Cycle Assessment (LCA), an environmental management tool, has been applied to objectively evaluate and compare the overall environmental impacts of the complete life cycles (from raw material extraction to final disposal) of consumer plastic and paper carrier bags in South Africa. Paper bags have a higher carrying capacity compared to plastic bags and different use ratios were subsequently evaluated. Plastic bags have a lower environmental impact for use ratios of up to 2.5 plastic bags to one paper bag. Above this ratio the conclusions are not reliable. Paper bags would need to increase its recycled content significantly to be competitive in terms of environmental impacts. The re-use of thicker plastic, as proposed by the new plastic bag legislation, has the potential to significantly lower the impact of plastic bags.</P><P>AFRIKAANSE OPSOMMING: Die konvensionele gebruikersdrasakke het onlangs aansienlike aandag in Suid Afrika ontvang. Die keuse van materiaal vir hierdie sakke, wat gebaseer is op omgewingsvoorkeure in die Suid-Afrikaanse konteks, kan 'n wesenlike invloed uitoefen op die plaaslike vervaardigingsindustrie. Lewenssiklusanalise (LCA), 'n omgewingsbestuurgereedskap, is aangewend vir 'n objektiewe evaluasie en vergelyking van die algehele omgewingsimpakte van die totale lewenssiklus (vanaf grondstofekstraksie tot finale wegdoening) van gebruikersplastiek- en papierdrasakke in Suid-Afrika. Aangesien papiersakke 'n hoër drakapasiteit het in vergelyking met plastieksakke, is verskillende gebruiksverhoudings evalueer. Plastieksakke het 'n laer omgewingsimpak vir gebruiksverhoudings tot en met 2.5 plastieksakke vir elke papiersak. Die gevolgtrekkings van die studie is nie betroubaar vir hoër verhoudings nie. Die persentasie hergesirkuleerde materiaal in papiersakke moet verhoog word om mededingend te wees in terme van omgewingsimpak. Die hergebruik van dikker plastiek, soos voorgestel deur die nuwe plastieksakwetgewing, het die potensiaal om die algehele impak van plastieksakke wesenlik te verlaag.</P&gt

    Predicting the minimum control time of quantum protocols with artificial neural networks

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    Quantum control relies on the driving of quantum states without the loss of coherence, thus the leakage of quantum properties into the environment over time is a fundamental challenge. One work-around is to implement fast protocols, hence the Minimal Control Time (MCT) is of upmost importance. Here, we employ a machine learning network in order to estimate the MCT in a state transfer protocol. An unsupervised learning approach is considered by using a combination of an autoencoder network with the k-means clustering tool. The Landau–Zener (LZ) Hamiltonian is analyzed given that it has an analytical MCT and a distinctive topology change in the control landscape when the total evolution time is either under or over the MCT. We obtain that the network is able to not only produce an estimation of the MCT but also gains an understanding of the landscape’s topologies. Similar results are found for the generalized LZ Hamiltonian while limitations to our very simple architecture were encountered.Fil: Sevitz, Sofia. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Física; ArgentinaFil: Mirkin, Nicolás. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Física; ArgentinaFil: Wisniacki, Diego Ariel. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Física; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Física de Buenos Aires. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Física de Buenos Aires; Argentin

    Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male

    No full text
    Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a challenge. We describe the case of a 15-year-old black African male who presented with abdominal distension, delayed growth and fatigue. Initial laboratory studies revealed severe anaemia (haemoglobin concentration 8 g/dL) and moderate thrombocytopenia (platelet count 80 × 109/L). A computed tomography scan of the abdomen showed an enlarged liver of 173 mm and massive splenomegaly of 27 mm. The diagnosis of GD was confirmed by reduced beta-glucocerebrosidase activity and heterozygous mutations in the GBA1 gene. The patient was managed at a dedicated paediatric haematology unit with enzyme replacement therapy and regular clinical, biochemical and radiological monitoring.</jats:p
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