scholarly journals Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models

2020 ◽  
Vol 8 (4) ◽  
pp. 25
Author(s):  
Ke’ale W. Louie ◽  
Yuji Mishina ◽  
Honghao Zhang
Keyword(s):  
Limb Development ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Human Case ◽  
Craniofacial Anomalies ◽  
Human Species ◽  
Critical Insight ◽  
Ellis Van Creveld Syndrome ◽  
Cellular Pathogenesis ◽  
Insight Into

Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of consanguineous marriage, this autosomal recessive disease results from mutations in one of two causative genes: EVC or EVC2/LIMBIN. The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. This review highlights the utility of animal-based studies of EVC by summarizing: (1) molecular biology of EVC and EVC2/LIMBIN, (2) human disease signs, (3) dysplastic limb development, (4) craniofacial anomalies, (5) tooth anomalies, (6) tracheal cartilage abnormalities, and (7) EVC-like disorders in non-human species.

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

2014 ◽  
Vol 35 (1) ◽  
pp. 97-99 ◽  
Author(s):  
Valentina D'Ambrosio ◽  
Carmela Votino ◽  
Teresa Cos ◽  
Sebastien Boulanger ◽  
Annelies Dheedene ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Cgh Array ◽  
Ellis Van Creveld Syndrome

scholarly journals Ellis van Creveld syndrome: An unusual presentation at birth

2022 ◽  
pp. 538-540
Author(s):  
Vidisha Singh ◽  
Alka Agrawal ◽  
Kailash Chandra Aggarwal
Keyword(s):  
Autosomal Recessive ◽  
Indian Population ◽  
Neonatal Period ◽  
Autosomal Recessive Disease ◽  
Heart Defects ◽  
Consanguineous Marriage ◽  
The World ◽  
Single Atrium ◽  
Ellis Van Creveld Syndrome ◽  
Rare Autosomal Recessive Disease

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

scholarly journals Oral manifestations in Ellis-van Creveld syndrome: a case report

2018 ◽  
Vol 24 (2) ◽  
pp. 76-80
Author(s):  
Wendpouiré Patrice Laurent Guiguimdé ◽  
Palakina Agoda ◽  
Raoul Bationo ◽  
Wendpoulemdé Aimé Désiré Kaboré ◽  
Seydou Ouattara ◽  
...  
Keyword(s):  
Genetic Disease ◽  
Congenital Heart ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Heart Defects ◽  
Multidisciplinary Management ◽  
Oral Manifestations ◽  
Genetic Studies ◽  
Ellis Van Creveld Syndrome ◽  
Number Form

Introduction: Ellis-van Creveld (EVC) syndrome is an uncommon genetic disease that can be diagnosed at any age. Observation: A case of EVC syndrome was reported in a young 3-year-old female patient presenting chondroectodermal dysplasia, polydactyly, congenital heart defects, damage to the oral mucosa and numerous dental alterations (number, form and structure). Oral management consists of teaching oral hygiene and the prophylactic filling of dental cracks. Discussion: EVC is an autosomal recessive disease. Its diagnosis is only based on clinical features and genetic studies. Conclusion: Dentists should be aware of this syndrome to avoid a late diagnosis and to facilitate a multidisciplinary management.

Importance of the Intersection of Library and Information Sciences with Systems Theory

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Hannah Lee
Keyword(s):  
System Theory ◽  
General System ◽  
General System Theory ◽  
Von Bertalanffy ◽  
Meta Level ◽  
Professional Field ◽  
The Subject ◽  
Critical Insight ◽  
Insight Into ◽  
Information Sciences

This paper is the attempt to show how system theory could provide critical insight into the transdisciplinary field of library and information sciences (LIS). It begins with a discussion on the categorization of library and information sciences as an academic and professional field (or rather, the lack of evidence on the subject) and what is exactly meant by system theory, drawing upon the general system theory established by Ludwig von Bertalanffy. The main conversation of this paper focuses on the inadequacies of current meta-level discussions of LIS and the benefits of general system theory (particularly when considering the exponential rapidity in which information travels) with LIS.

Intimacy as Transgression and the Problem of Freedom

2018 ◽  
Vol 1 (1) ◽  
pp. 18
Author(s):  
Kym Maclaren
Keyword(s):  
Intimate Relationships ◽  
Critical Analysis ◽  
Mutual Recognition ◽  
Public Institutions ◽  
The Other ◽  
Social Forces ◽  
Critical Insight ◽  
Insight Into ◽  
What Matters

“To consent to love or be loved,” said Merleau-Ponty, “is to consent also to influence someone else, to decide to a certain extent on behalf of the other.” This essay explicates that idea through a meditation on intimacy. I propose, first, that, on Merleau-Ponty’s account, we are always transgressing into each other’s experience, whether we are strangers or familiars; I call this “ontological intimacy.” Concrete experiences of intimacy are based upon this ontological intimacy, and can take place at two levels: (1) at-this-moment (such that we can experience intimacy even with strangers, by sharing a momentary but extra-ordinary mutual recognition) and (2) in shared interpersonal institutions, or habitual, enduring, and co-enacted visions of who we are, how to live, and what matters. Through particular examples of dynamics within these layers of intimacy (drawing upon work by Berne and by Russon), I claim that we are always, inevitably, imposing an “unfreedom” upon our intimate others. Freedom, then, can only develop from within and by virtue of this “unfreedom.” Thus, what distinguishes empowering or emancipating relationships from oppressive ones is not the removal of transgressive normative social forces; it is rather the particular character of those transgressive forces. Some transgressions upon others’ experience—some forms of “unfreedom”—will tend to promote freedom; others will tend to hinder it. This amounts to a call for promoting agency and freedom not only through critical analysis of public institutions, practices and discourses, but also through critical insight into and transformation of our most private and intimate relationships.

Critical Insight into the Attributes of Emerging Novel Coronavirus (COVID-19) in India and Across the World

Coronaviruses ◽  
2020 ◽  
Vol 1 (1) ◽  
pp. 49-56
Author(s):  
Gaurav M. Doshi ◽  
Hemen S. Ved ◽  
Ami P. Thakkar
Keyword(s):  
Review Article ◽  
World Health ◽  
Effective Vaccine ◽  
Human Contact ◽  
The World ◽  
Critical Insight ◽  
Novel Coronavirus ◽  
Health Organization ◽  
Insight Into ◽  
Old Drugs

The World Health Organization (WHO) has recently announced the spread of novel coronavirus (nCoV) globally and has declared it a pandemic. The probable source of transmission of the virus, which is from animal to human and human to human contact, has been established. As per the statistics reported by the WHO on 11th April 2020, data has shown that more than sixteen lakh confirmed cases have been identified globally. The reported cases related to nCoV in India have been rising substantially. The review article discusses the characteristics of nCoV in detail with the probability of potentially effective old drugs that may inhibit the virus. The research may further emphasize and draw the attention of the world towards the development of an effective vaccine as well as alternative therapies. Moreover, the article will help to bridge the gap between the new researchers since it’s the current thrust area of research.

scholarly journals Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

2020 ◽  
Vol 09 (04) ◽  
pp. 285-288
Author(s):  
Mervan Bekdas ◽  
Guray Can ◽  
Recep Eroz ◽  
Selma Erdogan Duzcu
Keyword(s):  
Intrahepatic Cholestasis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Bile Secretion ◽  
Peripheral Blood Sample ◽  
Portal Fibrosis ◽  
Traditional Treatment ◽  
Pathogenic Variants ◽  
Chronic Cholestasis ◽  
Whole Exome

AbstractProgressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in the ABCB11 gene and a c.208G> A/p.Asp70Asn variant in the ATP8B1 gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.

scholarly journals Lessons from the study of plant mating systems for exploring the causes and consequences of inbreeding in marine invertebrates

2021 ◽  
Vol 168 (3) ◽  
Author(s):  
Kevin C. Olsen ◽  
Will H. Ryan ◽  
Ellen T. Kosman ◽  
Jose A. Moscoso ◽  
Don R. Levitan ◽  
...  
Keyword(s):  
Mating Systems ◽  
Marine Invertebrates ◽  
Reproductive Traits ◽  
Theory And Practice ◽  
Costs And Benefits ◽  
Life History Variation ◽  
Invertebrate Animals ◽  
Plant Mating Systems ◽  
Critical Insight ◽  
Insight Into

AbstractMany benthic marine invertebrates resemble plants in being modular and either sessile or sedentary, and by relying on an external vector to disperse their gametes. These shared features, along with recent evidence of inbreeding in these taxa, suggest that theory and practice bearing on the evolutionary costs and benefits of inbreeding for plants could advance our understanding of the ecology and evolution of invertebrate animals. We describe how the theory for the evolution of inbreeding and outbreeding could apply to benthic invertebrates, identify and compare techniques used to quantify inbreeding in plants and animals, translate relevant botanical concepts and empirical patterns to their zoological equivalents, and articulate predictions for how inbreeding might be associated with major axes of variation in sessile and sedentary marine invertebrates. The theory of inbreeding and outbreeding provides critical insight into major patterns of life-history variation in plants and holds similar promise as a complementary perspective on the evolution of reproductive traits, lifespan, ecological strategies, and dispersal in marine invertebrates. Extending what we have learned from plants to marine invertebrates promises to broaden the general study of mating systems.

scholarly journals Human immunity against EBV—lessons from the clinic

2017 ◽  
Vol 214 (2) ◽  
pp. 269-283 ◽  
Author(s):  
Stuart G. Tangye ◽  
Umaimainthan Palendira ◽  
Emily S.J. Edwards
Keyword(s):  
Immune Cell ◽  
Underlying Disease ◽  
Lymphoproliferative Disease ◽  
Barr Virus ◽  
Ebv Infection ◽  
Human Immunity ◽  
Critical Insight ◽  
Epstein Barr ◽  
Mammalian Immune System ◽  
Insight Into

The mammalian immune system has evolved over many millennia to be best equipped to protect the host from pathogen infection. In many cases, host and pathogen have coevolved, each acquiring sophisticated ways of inducing or protecting from disease. Epstein-Barr virus (EBV) is a human herpes virus that infects >90% of individuals. Despite its ubiquity, infection by EBV is often subclinical; this invariably reflects the necessity of the virus to preserve its host, balanced with sophisticated host immune mechanisms that maintain viral latency. However, EBV infection can result in various, and often fatal, clinical sequelae, including fulminant infectious mononucleosis, hemophagocytic lymphohistiocytosis, lymphoproliferative disease, organomegaly, and/or malignancy. Such clinical outcomes are typically observed in immunosuppressed individuals, with the most extreme cases being Mendelian primary immunodeficiencies (PIDs). Although these conditions are rare, they have provided critical insight into the cellular, biochemical, and molecular requirements for robust and long-lasting immunity against EBV infection. Here, we review the virology of EBV, mechanisms underlying disease pathogenesis in PIDs, and developments in immune cell–mediated therapy to treat disorders associated with or induced by EBV infection.

Zinc and Acrodermatitis Enteropathica

1980 ◽  
Vol 2 (3) ◽  
pp. 88-94
Keyword(s):  
Zinc Deficiency ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Autosomal Recessive Disease ◽  
Dna Polymerases ◽  
Clinical Manifestations ◽  
Acrodermatitis Enteropathica ◽  
Nucleic Acid Metabolism ◽  
Zinc Metalloenzymes ◽  
Rna And Dna

Mammalian zinc metalloenzymes include alkaline phosphatase. Zinc plays a crucial role in nucleic acid metabolism. RNA and DNA polymerases and thymidine kinase are zinc-dependent enzymes. Zinc deficiency in North America is most clearly seen in the disease acrodermatitis enteropathica. This is an autosomal recessive disease due to a zinc metabolic error—not well defined—which leads to zinc deficiency. Clinical manifestations include a rash around orifices, alopecia, and diarrhea. The laboratory can demonstrate hypozincemia and hypozincuria. Clinical and biochemical remission occurs with oral zinc administration.(R.H.R.)

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