Showing papers on "Anticipation (genetics) published in 2020"
TL;DR: The history of in vivo atherosclerosis models are reviewed and the potential for future studies on inflammatory responses in lipid deposits in zebrafish is highlighted, based on known immune reactions in humans and mice, in anticipation of new zebra fish models with more advanced atherosclerotic plaques.
Abstract: Cardiovascular diseases, such as atherosclerosis, are the leading cause of death worldwide. Although mice are currently the most commonly used model for atherosclerosis, zebrafish are emerging as an alternative, especially for inflammatory and lipid metabolism studies. Here, we review the history of in vivo atherosclerosis models and highlight the potential for future studies on inflammatory responses in lipid deposits in zebrafish, based on known immune reactions in humans and mice, in anticipation of new zebrafish models with more advanced atherosclerotic plaques.
14 citations
TL;DR: The study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of B AFME.
Abstract: Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investigate whether these abnormal expansions are involved in our new pedigree from China, whole exome sequencing (WES) and repeat-primed polymerase chain reaction (RP-PCR) analysis were performed to detect potential mutation in pedigree members. Neither causal mutations cosegregated with the disease in the family nor any novel mutation was identified through WES, while an abnormal TTTCA expansion in SAMD12 was identified by RP-PCR and then proved to be cosegregated in the pedigree. All the 12 alive affected individuals (M/F = 4/8; average age = 46.7 years old, range from 27 to 66) showed typical characteristics of BAFME. In addition, maternal clinical anticipation was observed in six mother/child pairs. In conclusion, our study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of BAFME.
7 citations
TL;DR: The aim of this review is to look at the currently available data for the treatment of acute agitation in patients with Huntington’s disease.
Abstract: Huntington's disease (HD) is a rare neurodegenerative disease of the central nervous system characterized by choreatic movements, behavioral disturbances, and neuropsychiatric sequelae. The disease is inherited in an autosomal dominant fashion by an increased number of CAG repeats on the short arm of chromosome 4p16.3 in the Huntingtin gene. Huntington's disease demonstrates the genetic principle of anticipation, where the larger the number of CAG repeats the earlier the signs and symptoms of the disease appear in subsequent generations. The symptoms often consist of behavioral disturbances and learning disturbances. The disease is suspected based on signs and symptoms and confirmed by genetic testing. There is no cure for the disease, and there is a high rate of neuropsychiatric symptoms including depression, and aggressive behavior. A significant risk of suicide in this population exists given the severity and unrelenting nature of the disease. Most patients will have multiple hospitalizations during the course of the illness. A consultant psychiatrist may be asked to evaluate and make recommendations for the treatment of acute agitation in HD patients. This can be a challenging task given the limited number of studies and the complex nature of agitation in the hospital setting. The aim of this review is to look at the currently available data for the treatment of acute agitation in patients with Huntington's disease.
6 citations
TL;DR: AC was no uncommon in a large number of ATTRV30M kindred from Majorca (Spain), and AO tended to decrease in successive generations, and further insight into parent-of-origin effects was gained.
Abstract: Hereditary transthyretin amyloidosis (ATTRV30M) is a rare disease caused by amyloid deposition and characterized by a heterogeneous presentation. Anticipation (AC) is described as the decrease in a...
6 citations
TL;DR: Telomere shortening appears unlikely to be involved in mechanisms of possible genetic anticipation in IBD, and further studies using a larger sample size are required to confirm or refute the findings.
Abstract: Background The existence of genetic anticipation has been long disputed in inflammatory bowel disease (IBD) in the absence of the explanatory mechanism. Aim To determine whether it was predictive of genetic anticipation, we evaluated telomere length in IBD. We hypothesized that multiplex IBD families exhibit a genetic defect impacting telomere maintenance mechanisms. Methods We studied three IBD families with multiple affected members in three successive generations. We determined telomere length (TL) in lymphocytes and granulocytes from peripheral blood of the affected members using flow cytometry and fluorescence in-situ hybridization (flow FISH). We also performed whole exome sequencing in the blood of all available family members and used PhenoDB to identify potential candidate gene variants with recessive or dominant modes of inheritance. Results Out of twenty-four patients of European descent selected to participate in the study, eleven patients, eight parent-child pairs affected by IBD, were included in the genetic anticipation analysis. Median difference in age at diagnosis between two successive generations was 16.5 years, with earlier age at onset in the younger generations. In most of the affected members, the disease harbored similar gastrointestinal and extraintestinal involvement but was more aggressive among the younger generations. TL was not associated with earlier age at onset or more severe disease in members of successive generations affected by IBD. NOD2 gene mutations were present in the Crohn's disease patients of one family. However, no gene variants were identified as potential candidates for inheritance. Conclusion Telomere shortening appears unlikely to be involved in mechanisms of possible genetic anticipation in IBD. Further studies using a larger sample size are required to confirm or refute our findings.
4 citations
4 citations
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
TL;DR: A large database was used to assess the age of disease onset (AODO) in CJD and reported conflicting results regarding possible anticipation in familial E200K Creutzfeldt–Jakob disease.
Abstract: BACKGROUND AND PURPOSE Previous studies have reported conflicting results regarding possible anticipation in familial E200K Creutzfeldt-Jakob disease (fCJD). Our objective was to use a large database to assess the age of disease onset (AODO) in CJD. METHODS The study population included 477 CJD patients [266 with fCJD, 145 with sporadic CJD (sCJD) and 66 patients of Libyan origin but negative family history] from the Israeli registry of CJD conducted since 1954. In all patients, AODO in relatives and family trees was documented. Comparison of AODO was done using a paired t test and regression using Pearson correlation for birth and year of onset. RESULTS The initial analysis in 52/73 families in which more than one generation was affected revealed an AODO of 63.30 ± 9.44 in the first generation compared to 56.96 ± 8.99 in the second generation (P < 0.001). However, inspection of individual AODO values plotted by year of birth showed a clear rhomboid methodological artifact generated by missing data of many young onset CJD patients who died before the database began to function in 1954 and of many late onset CJD patients missing at the present time since they will only develop the disease in the future. The 'generation' effect completely disappears if analysis is performed by year of disease onset or for the periods in which complete data are available. CONCLUSIONS In this very large dataset, true anticipation in fCJD patients was not detected. It is plausible that previous reports supporting the presence of anticipation are biased by a rhomboid-shaped data availability artifact.
13 May 2020
01 Jan 2020
TL;DR: Clinical management in the antenatal and peripartum period, anticipation, timing and mode of surgery, as well as the advanced techniques and interventions applied to this entity are discussed below.
Abstract: Placental adhesive disorders are the most feared complications in obstetric practice with the most unpredictable outcome which puts both the mother and the baby at risk. Clinical management in the antenatal and peripartum period, anticipation, timing and mode of surgery, as well as the advanced techniques and interventions applied to this entity are discussed below.