Genetic Syndromes

2017 ◽  
Author(s):  
Tessa Davis
Keyword(s):  
Genetic Syndromes

Silvery Hair Points to Deadly Genetic Syndromes

2009 ◽  
Vol 40 (1) ◽  
pp. 28-29
Author(s):  
BETSY BATES
Keyword(s):  
Genetic Syndromes

Language in mental retardation: Individual and syndromic differences, and neurogenetic variation 1Based on a keynote presentation at the Third European Conference on Psychological Theory and Research in Mental Retardation, Geneva, September 1st, 2000.

2001 ◽  
Vol 60 (3) ◽  
pp. 161-178 ◽  
Author(s):  
Jean A. Rondal
Keyword(s):  
Mental Retardation ◽  
Language Development ◽  
Oral Language ◽  
Psychological Theory ◽  
Genetic Syndromes ◽  
Explanatory Variables ◽  
Keynote Presentation ◽  
Genetic Origins ◽  
The Sixties ◽  
The Individual

Predominantly non-etiological conceptions have dominated the field of mental retardation (MR) since the discovery of the genetic etiology of Down syndrome (DS) in the sixties. However, contemporary approaches are becoming more etiologically oriented. Important differences across MR syndromes of genetic origin are being documented, particularly in the cognition and language domains, differences not explicable in terms of psychometric level, motivation, or other dimensions. This paper highlights the major difficulties observed in the oral language development of individuals with genetic syndromes of mental retardation. The extent of inter- and within-syndrome variability are evaluated. Possible brain underpinnings of the behavioural differences are envisaged. Cases of atypically favourable language development in MR individuals are also summarized and explanatory variables discussed. It is suggested that differences in brain architectures, originating in neurological development and having genetic origins, may largely explain the syndromic as well as the individual within-syndrome variability documented. Lastly, the major implications of the above points for current debates about modularity and developmental connectionism are spelt out.

Target Obesity in Kids With Genetic Syndromes

2008 ◽  
Vol 38 (2) ◽  
pp. 10
Author(s):  
BETSY BATES
Keyword(s):  
Genetic Syndromes

scholarly journals IGF-1 Haploinsufficiency Causes Age-Related Chronic Cochlear Inflammation and Increases Noise-Induced Hearing Loss

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1686
Author(s):  
Adelaida M. Celaya ◽  
Lourdes Rodríguez-de la Rosa ◽  
Jose M. Bermúdez-Muñoz ◽  
José M. Zubeldia ◽  
Carlos Romá-Mateo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Inflammatory Cytokines ◽  
Noise Exposure ◽  
Sensorineural Deafness ◽  
Serum Levels ◽  
Genetic Syndromes ◽  
Expression Ratio ◽  
Postnatal Maturation ◽  
Age Related ◽  
Underlying Mechanisms

Insulin-like growth factor 1 (IGF-1) deficiency is an ultrarare syndromic human sensorineural deafness. Accordingly, IGF-1 is essential for the postnatal maturation of the cochlea and the correct wiring of hearing in mice. Less severe decreases in human IGF-1 levels have been associated with other hearing loss rare genetic syndromes, as well as with age-related hearing loss (ARHL). However, the underlying mechanisms linking IGF-1 haploinsufficiency with auditory pathology and ARHL have not been studied. Igf1-heterozygous mice express less Igf1 transcription and have 40% lower IGF-1 serum levels than wild-type mice. Along with ageing, IGF-1 levels decreased concomitantly with the increased expression of inflammatory cytokines, Tgfb1 and Il1b, but there was no associated hearing loss. However, noise exposure of these mice caused increased injury to sensory hair cells and irreversible hearing loss. Concomitantly, there was a significant alteration in the expression ratio of pro- and anti-inflammatory cytokines in Igf1+/− mice. Unbalanced inflammation led to the activation of the stress kinase JNK and the failure to activate AKT. Our data show that IGF-1 haploinsufficiency causes a chronic subclinical proinflammatory age-associated state and, consequently, greater susceptibility to stressors. This work provides the molecular bases to further understand hearing disorders linked to IGF-1 deficiency.

scholarly journals Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 268
Author(s):  
Marta Ferrari ◽  
Stefano Stagi
Keyword(s):  
Down Syndrome ◽  
Autoimmune Diseases ◽  
Normal Population ◽  
Underlying Mechanism ◽  
Short Review ◽  
Immune Dysregulation ◽  
Infectious Complications ◽  
Genetic Syndromes ◽  
Genetic Syndrome

Within immune system-related diseases, autoimmunity has always represented a field of great interest, although many aspects remain poorly understood even today. Genetic syndromes associated with immunity disorders are common and represent an interesting model for a better understanding of the underlying mechanism of autoimmunity predisposition. Among these conditions, Down syndrome (DS) certainly deserves special attention as it represents the most common genetic syndrome associated with immune dysregulation, involving both innate and adaptive immunity. Autoimmunity represents a well-known complication of DS: it is estimated that people affected by this disease present a risk four to six times higher than the normal population to develop autoimmune diseases such as celiac disease, type 1 diabetes mellitus, and hypo- or hyperthyroidism. Several factors have been considered as possible etiology, including genetic and epigenetic modifications and immune dysregulation. In times in which the life expectancy of people with DS has been extremely prolonged, thanks to improvements in the diagnosis and treatment of congenital heart disease and infectious complications, knowledge of the mechanisms and proper management of autoimmune diseases within this syndrome has become essential. In this short review, we aim to report the current literature regarding the genetic, immune, and environmental factors that have been proposed as the possible underlying mechanism of autoimmunity in individuals with DS, with the intent to provide insight for a comprehensive understanding of these diseases in genetic syndromes.

Genetic Syndromes Associated With Skin Cancer

1993 ◽  
Vol 26 (1) ◽  
pp. 117-137 ◽  
Author(s):  
Kevin A. Shumrick ◽  
Brett Coldiron
Keyword(s):  
Skin Cancer ◽  
Genetic Syndromes

Review of treatment and therapeutic targets in brain arteriovenous malformation

2021 ◽  
pp. 0271678X2110267
Author(s):  
Peipei Pan ◽  
Shantel Weinsheimer ◽  
Daniel Cooke ◽  
Ethan Winkler ◽  
Adib Abla ◽  
...  
Keyword(s):  
Animal Models ◽  
De Novo ◽  
Mapk Pathway ◽  
Treatment Options ◽  
Therapeutic Targets ◽  
Current Treatment ◽  
Mitogen Activated Protein Kinase ◽  
De Novo Mutations ◽  
Genetic Syndromes ◽  
Mitogen Activated Protein

Brain arteriovenous malformations (bAVM) are an important cause of intracranial hemorrhage (ICH), especially in younger patients. The pathogenesis of bAVM are largely unknown. Current understanding of bAVM etiology is based on studying genetic syndromes, animal models, and surgically resected specimens from patients. The identification of activating somatic mutations in the Kirsten rat sarcoma viral oncogene homologue (KRAS) gene and other mitogen-activated protein kinase ( MAPK) pathway genes has opened up new avenues for bAVM study, leading to a paradigm shift to search for somatic, de novo mutations in sporadic bAVMs instead of focusing on inherited genetic mutations. Through the development of new models and understanding of pathways involved in maintaining normal vascular structure and functions, promising therapeutic targets have been identified and safety and efficacy studies are underway in animal models and in patients. The goal of this paper is to provide a thorough review or current diagnostic and treatment tools, known genes and key pathways involved in bAVM pathogenesis to summarize current treatment options and potential therapeutic targets uncovered by recent discoveries.

Designing measures for profiling and genotype/phenotype studies of individuals with genetic syndromes or developmental language disorders

2005 ◽  
Vol 26 (1) ◽  
pp. 41-64 ◽  
Author(s):  
CAROLYN B. MERVIS ◽  
BYRON F. ROBINSON
Keyword(s):  
Language Disorders ◽  
Target Population ◽  
Cognitive Profiles ◽  
Genetic Syndromes ◽  
Developmental Language Disorders ◽  
Measurement Issues ◽  
Special Measurement ◽  
Ideal Measure ◽  
Infants And Young Children ◽  
The Ideal

Accurate phenotypic description is critical for the success of studies of the genetic basis for developmental language disorders. An important purpose of such a phenotypic description is to differentiate the language and associated cognitive profiles of syndromes or other developmental language disorders with diverse genotypes. In this paper we consider six measurement issues relevant to genotype/phenotype research and profiling: (a) Who is the target population? (b) What is the “ideal” measure of a single component of language? (c) What is the “ideal” measure(s) for quantifying the language (or language and cognitive) profile for a particular syndrome or disorder? (d) What are the special measurement issues for infants and young children? (e) How do we develop a profile? (f) What are the unresolved issues?

scholarly journals Genetic syndromes and congenital heart defects: how is surgical management affected?

2009 ◽  
Vol 35 (4) ◽  
pp. 606-614 ◽  
Author(s):  
Roberto Formigari ◽  
Guido Michielon ◽  
Maria Cristina Digilio ◽  
Gerardo Piacentini ◽  
Adriano Carotti ◽  
...  
Keyword(s):  
Surgical Management ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Syndromes
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