Topic
Anticipation (genetics)
About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.
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TL;DR: A case of a newborn with dengue haemorrhagic fever due to vertical transmission is reported, indicating anticipateation and early detection was the key to successful management.
Abstract: Dengue is a vector borne disease responsible for nearly 4 billion infections annually, prevalent in the tropics with seasonal outbreaks (1). Aedes spp. act as the vector (1). There were 105,049 cases of dengue reported in Sri Lanka in 2019 (2). Neonatal dengue infection can result from vertical transmission through placenta (3). We report a case of a newborn with dengue haemorrhagic fever due to vertical transmission. Anticipation and early detection was the key to successful management.
1 citations
01 Jan 2009
TL;DR: Obesity, diabetes, and increased fundal height are the most important risk factors for shoulder dystocia and prevention of brachial plexus palsy.
Abstract: Identification of risk factors allows anticipation of shoulder dystocia and prevention of brachial plexus palsy. Obesity, diabetes, and increased fundal height are the most important risk factors.
1 citations
Journal Article•
TL;DR: The clinical, pathological, and genetic aspects of SCA7 are summarized, the current understanding of the pathogenesis of this disorder is reviewed, and the potential therapeutic strategies that are currently being explored in polyglutamine diseases are reviewed.
Abstract: 【The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence 450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.】
1 citations
01 Jan 2016
TL;DR: It is postulate that this pattern may be common to the autosomal dominant cerebellar ataxias and frequently may be overlooked because of the insensitivity of routine screening tests such as the Mini-Mental State Examination.
Abstract: Results: The pedigree displayed anticipation, with earlier onset in later generations, and there was an inverse correlation between repeat number and age at onset. The principal difference from other clinical reports of SCA2 was our finding of unequivocal frontal-executive dysfunction in 5 of 6 individuals who could be tested quantitatively, despite Mini-Mental State Examination scores in the nondemented range. This feature did not appear to correlate with either repeat size or duration of illness. Conclusions: In light of a recent report of frontalexecutive dysfunction in spinocerebellar ataxia type III, we postulate that this pattern may be common to the autosomal dominant cerebellar ataxias and frequently may be overlooked because of the insensitivity of routine screening tests such as the Mini-Mental State Examination. Arch Neurol. 1999;56:43-50
1 citations
31 Dec 2007
TL;DR: The diagnosis of myotonic Dystrophy can be under recognized when only cataract and or dementia are the only presenting features, so increased awareness is important as prompt diagnosis allows prevention of complications, detection of other family members and genetic counseling.
Abstract: Myotonic Dystrophy (MD) is the most common inherited neuromuscular disease with a worldwide prevalence of 2.1 to 14.3 per 100 000 inhabitants and incidence of 1 in 8000 births [1]. MD exhibits anticipation and variable expression from generation to another. It is a multi-system disorder affecting muscles, central nervous system, eye, endocrine system, gastrointestinal system, and most importantly heart. Features that allow early diagnosis are myotonia and muscle weakness. However, the diagnosis can be under recognized when only cataract and or dementia are the only presenting features. Increased awareness is important as prompt diagnosis allows prevention of complications, detection of other family members and genetic counseling.
1 citations