scholarly journals Genetic basis of congenital platelet disorders

Hematology ◽  
2014 ◽  
Vol 2014 (1) ◽  
pp. 337-342 ◽  
Author(s):  
Jesse Hinckley ◽  
Jorge Di Paola

Abstract Over the past 4 decades, a better understanding of the genetic origins of inherited platelet disorders has illuminated avenues of investigation in megakaryopoiesis and has identified targets of pharmacologic intervention. Many of these discoveries have been translated into clinical medicine. The success of inherited platelet disorder research is underpinned by broader advances in methodology through the biochemical and molecular revolution of the 20th and 21st centuries, respectively. Recently, modern genomics techniques have affected platelet and platelet disorders research, allowing for the discovery of several genes involved in platelet production and function and for a deeper understanding of the RNA and miRNA networks that govern platelet function. In this short review, we focus on recent developments in the genetic elucidation of several disorders of platelet number and in the molecular architecture that determines the “genetic makeup” of a platelet in health and disease.

PEDIATRICS ◽  
1977 ◽  
Vol 59 (5) ◽  
pp. 794-794
Author(s):  
Lester F. Soyka

The endocrinology section of Duncan's Diseases of Metabolism comprises 736 pages, or about 44% of the total text. The division of this seventh edition of a classic text in the field is perhaps a logical expression of the splitting of endocrinology from metabolism as each field has grown tremendously in the past decade. The endocrinology portion is compact and easy to use because of this division, aided by the employment of thin, though substantial paper and small, but easily readable type. These combine to avoid the feeling of consulting a big-city telephone directory, which is so common with use of many of the standard textbooks of today. The illustrations are generally excellent and the 54-page index, which covers both sections of the book, is unusually thorough. As in all textbooks, many sections are outdated before they appear in print. Although the editors, Philip K. Bondy and Leon E. Rosenberg, propose to avoid this by means of a "last-minute" addendum, only two of the 13 chapters bear such, and one of these lists only three references, all dating to 1972. The other recent-developments section is longer and more helpful. The content is essentially that of general clinical endocrinology, each chapter using the standard approach of considering normal structure and function and then diseases in a gland arrangement, starting with the hypothalamus and traveling downward to the testis and ovary. A small chapter on acid-base balance seems out of place, whereas those on nonendocrine-secreting tumors and serotonin and the carcinoid syndrome are useful extensions of the scope of endocrinology.


Gerontology ◽  
2015 ◽  
Vol 62 (3) ◽  
pp. 371-380 ◽  
Author(s):  
Michael D. Staudt ◽  
Andrea R. Di Sebastiano ◽  
Hu Xu ◽  
Mandar Jog ◽  
Susanne Schmid ◽  
...  

Parkinson's disease (PD) affects an estimated 7-10 million people worldwide and remains without definitive or disease-modifying treatment. There have been many recent developments in cell-based therapy (CBT) to replace lost circuitry and provide chronic biological sources of therapeutic agents to the PD-affected brain. Early neural transplantation studies underscored the challenges of immune compatibility, graft integration and the need for renewable, autologous graft sources. Neurotrophic factors (NTFs) offer a potential class of cytoprotective pharmacotherapeutics that may complement dopamine (DA) replacement and CBT strategies in PD. Chronic NTF delivery may be an integral goal of CBT, with grafts consisting of autologous drug-producing (e.g., DA, NTF) cells that are capable of integration and function in the host brain. In this mini-review, we outline the past experience and recent advances in NTF technology and CBT as promising and integrated approaches for the treatment of PD.


2021 ◽  
Author(s):  
Jingxun Chen ◽  
Elçin Ünal

AbstractThis review describes the current models for how the subunit abundance of the Ndc80 complex, a key kinetochore component, is regulated in budding yeast and metazoan meiosis. The past decades of kinetochore research have established the Ndc80 complex to be a key microtubule interactor and a central hub for regulating chromosome segregation. Recent studies further demonstrate that Ndc80 is the limiting kinetochore subunit that dictates the timing of kinetochore activation in budding yeast meiosis. Here, we discuss the molecular circuits that regulate Ndc80 protein synthesis and degradation in budding yeast meiosis and compare the findings with those from metazoans. We envision the regulatory principles discovered in budding yeast to be conserved in metazoans, thereby providing guidance into future investigations on kinetochore regulation in human health and disease.


2021 ◽  
Vol 8 ◽  
Author(s):  
G. Bala Subbaiah ◽  
K. Venkata Ratnam ◽  
S. Janardhan ◽  
K. Shiprath ◽  
H. Manjunatha ◽  
...  

Identifying and quantifying the biological concentrations of certain biomolecules such as dopamine, glucose, tyrosine, and cholesterol, etc. has become the basis for medical diagnosis in the treatment of a number of related diseases. In most cases, the concentrations of these biomolecules in biofluids like blood acts as a biomarker and becomes crucial in the treatment of diseases. On the other hand, advanced ceramics refers to oxides (alumina, zirconia), non-oxides: (carbides, borides, nitrides, silicides), Composites (particulate reinforced combinations of oxides and non-oxides), etc. This review article discusses recent developments in the field of electrochemical sensors developed using metal and metal oxide based advanced ceramics with an emphasis on developments in the field over the past five years. The article presents the key results, important findings, and interesting chemistry of biosensing advanced ceramic based electrochemical biosensors for some important biomolecules such as acetaminophen, glucose, and dopamine, etc.


F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 984 ◽  
Author(s):  
Lindsey Seldin ◽  
Ian Macara

Mitotic spindle orientation is a conserved, dynamic, and highly complex process that plays a key role in dictating the cleavage plane, fate, and positioning of cells within a tissue, therefore laying the blueprint for tissue structure and function. While the spindle-positioning pathway has been extensively studied in lower-model organisms, research over the past several years has highlighted its relevance to mammalian epithelial tissues. Although we continue to gain critical insights into the mechanisms underlying spindle positioning, many uncertainties persist. In this commentary, we will review the protein interactions that modulate spindle orientation and we will present important recent findings that underscore epithelial tissue-specific requirements and variations in this important pathway, as well as its potential relevance to cancer.


2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Xingzhu Yuan ◽  
Chengting Chang ◽  
Xinrong Chen ◽  
Ka Li

Abstract Background The gastrointestinal microbiome is an important component of the human body and is closely related to human health and disease. This study describes the hotspots of the human gastrointestinal microbiome research and its evolution in the past decade, evaluates the scientific cooperation network, and finally predicts the field’s future development trend using bibliometric analysis and a visualized study. Methods We searched the original articles from January 2010 to February 2021 in the Scopus database using the term “gastrointestinal microbiome” and its synonyms. CiteSpace was used to construct country and author co-occurrence map; conduct journal, citation cocitation analysis, and reference co-citation knowledge map; and form a keywords co-occurrence map, a clustering knowledge map, timeline view of keywords, and burst term map. Result A total of 4444 documents published from January 2010 to February 2021 were analysed. In approximately the past decade, the number of articles on the human gastrointestinal microbiome has increased rapidly, and the research topics focus on different populations, research methods, and detection methods. All countries and regions in the world, led by the US, are studying the human gastrointestinal microbiome, and many research teams with close cooperation have been formed. The research has been published extensively in microbiology journals and clinical medicine journals, and the highly cited articles mainly describe the relationship between gastrointestinal microorganisms and human health and disease. Regarding the research emphasis, researchers' exploration of the human gastrointestinal microbiome (2011–2013) was at a relatively macro and superficial stage and sought to determine how the gastrointestinal microbiome relates to humans. From 2014 to 2017, increasingly more studies were conducted to determine the interaction between human gastrointestinal flora and various organs and systems. In addition, researchers (2018–2021) focused on the gastrointestinal microbial community and the diversity of certain types of microbes. Conclusion Over time, the scope of the research on the clinical uses of the gastrointestinal microbiome gradually increased, and the contents were gradually deepened and developed towards a more precise level. The study of the human gastrointestinal microbiome is an ongoing research hotspot and contributes to human health.


Author(s):  
Calum C. Bain ◽  
Andrew S. MacDonald

AbstractThe last decade has been somewhat of a renaissance period for the field of macrophage biology. This renewed interest, combined with the advent of new technologies and development of novel model systems to assess different facets of macrophage biology, has led to major advances in our understanding of the diverse roles macrophages play in health, inflammation, infection and repair, and the dominance of tissue environments in influencing all of these areas. Here, we discuss recent developments in our understanding of lung macrophage heterogeneity, ontogeny, metabolism and function in the context of health and disease, and highlight core conceptual advances and key unanswered questions that we believe should be focus of work in the coming years.


2011 ◽  
Vol 84 (1) ◽  
pp. 65-76 ◽  
Author(s):  
Barbara Mulloy ◽  
Sanaullah Khan ◽  
Stephen J. Perkins

The study of the relationship between the complex structures and numerous physiological functions of the glycosaminoglycans (GAGs) heparin and heparan sulfate (HS) has continued to thrive in the past decade. Though it is clear that the monosaccharide sequences of these polysaccharides must determine their ability to modulate the action of growth factors, morphogens, chemokines, cytokines, and many other extracellular proteins, the exact details of this dependence still prove elusive. Sequence determines the 3D structure of GAGs at more than one level; detailed sequences of highly sulfated regions may influence affinity for specific proteins in some cases, but in addition attention has been called to the importance of the length and spacing of these highly sulfated sequences, which are separated by unsulfated domains. Within the sulfated “S-domains”, the internal dynamics of the conformationally flexible iduronate pyranose ring have continued to interest NMR spectroscopists and molecular modelers. New studies of the relative degrees of flexibility of sulfated and unsulfated domains lead to an overall model of heparin/HS in which protein-binding, highly sulfated S-domains with well-defined conformations are separated by more flexible NA-domains.


Synthesis ◽  
2019 ◽  
Vol 51 (03) ◽  
pp. 643-663 ◽  
Author(s):  
Kåre Jørgensen ◽  
M. Fernández-Ibáñez ◽  
Sindhu Kancherla

Over the past decades, organic chemists have focussed on developing new approaches to directed C–H functionalisations, where the site selectivity is steered by the presence of a directing group (DG). Nonetheless, in recent years, more and more non-directed strategies are being developed to circumvent the requisite directing group, making C–H functionalisations more generic. This short review focuses on the latest developments in palladium-catalysed non-directed C–H functionalisations of aromatic compounds.1 Introduction2 C–C Bond Formation2.1 C–H Arylation2.2 C–H Alkylation2.3 C–H Alkenylation2.4 C–H Carbonylation3 C–Heteroatom Bond Formation3.1 C–O Bond Formation3.2 C–N Bond Formation3.3 C–S Bond Formation4 Conclusion


PEDIATRICS ◽  
1963 ◽  
Vol 32 (4) ◽  
pp. 480-496
Author(s):  
Robert L. Vernier

In the belief that sequential studies of the pathology of the kidney might improve our understanding of the pathogenesis of a variety of forms of renal disease in childhood, we began to perform percutaneous renal biopsies in children in 1955. Our studies were stimulated by the pioneering investigations of Iversen and Brun1 in Europe, and Muehrcke, Kark, and Pirani2 in the United States. Our experience3 now includes more than 500 kidney biopsy specimens obtained from approximately 400 children of all ages. The incidence of complications has been low, and the method has proved to be safe enough to justify the small risk entailed. Bleeding into the perirenal tissues, sufficient to cause pain, or a measurable fall in hemoglobin, or the appearance of a mass, has occurred in eight children. Gross hematuria of more than transient nature has occurred in six additional children. There has been no recognized permanent renal functional impairment or other chronic sequelae of these accidents. Surgical exploration of the biopsied kidney has never been necessary and no deaths have occurred as a consequence of the procedure. The confusion which exists regarding classification and diagnosis of many renal diseases arises because of inadequate knowledge of their etiology, and is further compounded by conflicting use of terminology by clinicians and pathologists. The terms nephritis, nephrosis, mixed nephritis-nephrosis, and the modifying terms acute, subacute, and chronic, are, for example, applied by these two groups of physicians in circumstances which differ widely depending upon the experience of the user. Widespread use of the renal biopsy technique over the past 7 years has not eliminated the difficulties in use of terminology, but some progress has been made.


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