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Abnormality
To investigate the clinical characteristics and prognosis of hematopathy patients with chromosome 3 abnormality.The clinical data of the 125 hematopathy patients with chromosome 3 abnormality in our hospital from January 2011 to June 2018 were retrospectively analyzed. The conventional karyotype analysis was performed by R-banding. According to the main genetic abnormalities, the patients were divided into 3 group: group with 3q abnormality, 3p abnormality and +3/-3.Among 3 kinds of gene abnormality 3q abnormality was the most common one, followed by +3 and 3p abnormality. No significant differences were found in age, sex, WBC, Plt count and Hb level all in each group (P＞0.05). Among the 125 patients, 42 patients died without treatment or abandoned treatment, and 83 patients received more than 2 courses of treatment. The 2-year overall survival (OS) rate in the three groups was 30.25%, 43.0% and 58.7% respectively. The 2-year OS rate in the 3q abnormal group was significantly lower than that in the +3/-3 group (P=0.041). Among the 3q abnormality, the detection rate of the patients with 3q21/3q26 locus abnormality was the highest, and their 2-year OS rate (41.1%) was higher than that in other 3q locus abnormality (11.1%) (P=0.044).Hematopathy patients with chromosome 3 abnormality, especially 3q abnormality often show a poor prognosis, however, 3q abnormality involving 3q21/3q26 locus indicates a better prognosis relatively.125例伴3号染色体异常血液病患者的临床特征及预后.探讨3号染色体异常在血液病患者中的临床特征及其预后的意义.回顾分析2011年1月- 2018年6月来于院就诊的125例伴3号染色体异常的血液病患者的临床资料。采用R显带技术进行常规核型分析, 根据主要遗传学异常将患者分为3组：3q异常、3p异常及+3/-3.3组中以3q异常最常见, 其次为+3和3p异常。各组在年龄、性别、WBC、Plt计数和Hb水平方面无明显差异（P＞0.05）。125例患者中未治疗即死亡或放弃治疗的42例, 治疗2个疗程以上的共83例；3组患者的2年总生存率分别为30.25%、43.0%和58.7%。3q异常组患者的2年总生存率明显低于+3/-3组（P=0.041）。而3q异常中以涉及3q21/3q26位点异常的检出率最高, 其2年的总生存率(41.1%）明显高于其它的3q位点异常（11.1%）（P=0.044）.患者伴有3号染色体异常尤其是3q异常预后较差, 而3q异常中涉及3q21/3q26位点异常的患者预后相对较好.
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Accurately measuring a subject's abnormality using high dimensional data can empower better outcomes research. Utilizing applications in instrumented gait analysis, this article demonstrates how using data that is inherently non-independent to measure overall abnormality may bias results. A methodology is then introduced to address this bias and accurately measure abnormality in high dimensional spaces. While this methodology is in line with previous literature, it differs in two major ways. Advantageously, it can be applied to datasets in which the number of observations is less than the number of features/variables, and it can be abstracted to practically any number of domains or dimensions. Initial results of these methods show that they can detect known, real-world differences in abnormality between subject groups where established measures could not. This methodology is made freely available via the abnormality R package on CRAN.
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Abstract Abnormality refers to something being atypical or differing from the norm. Reaching consensus on a universal definition of abnormality is an unsolved challenge due to the cultural and professional subjectivity of the term and the dearth of definitive cut‐offs, biomarkers, or other objective lines of demarcation that delineate the psychologically normal from the abnormal. Common definitions of psychological abnormality include dysfunction, distress, disability, and disorder. The historical, intellectual, and social contexts within which the definition of abnormality has been developed are discussed, along with etiological perspectives on psychological abnormality.
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Objective To evaluate the correlation between ultrasound detected fetal heart abnormality and chromosomal abnormality.Methods The data of 3307 cases of prenatal fetal echocardiography and karyotype analysis results were retrospectively analyzed.The correlation between heart abnormality and chromsomal abnormality was analyzed.Results In 3307 cases d pregnant women,194cases (5.87％) were found signs of fetal heart abnormality,and 3113 cases (94.13％) were not found any sign of fetal heart abnormality.And 124 cases (3.75％) were found chromosomal abnormality.The rate of chromosomal abnormality in fetus with heart abnormality was higher than that in fetus without heart abnormality [ 19.59％ (38/194) vs.2.76％ ( 86/3113 ),P ＜ 0.01 ],the relative risk ratio was 7.0903.One hundred and twenty-four cases of chromosomal abnormality in the 18-three-body (42 cases) and 21-three-body (36 cases) were the most common.Conclusions Fetal heart abnormality incidence of chromosomal abnormality is high relatively.When the signs of heart abnormality are found,it is suggested that the fetus should examine karyotype analysis.
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Genetics; Ultrasonography; Fetal heart; Chromosom
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Chromosomal Abnormality
Chromosome abnormality
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The abnormality of dermal collagen fibrils is the ultrastructural criterion of Ehlers-Danlos syndrome (EDS). This study evaluates the clinical significance of the abnormality. Besides 348 lax patients presenting the stigmata of EDS, skin specimens from 12 normal members in the pedigree of EDS, 98 randomly selected normal individuals, 7 Marfan syndrome and 4 osteogenesis inperfecta type I, were studied by electron microscopy. The abnormality was defined by thickness, array and shape of collagen fibrils. Of 348 lax patients, 115 patients showed Beighton's score higher than 6 and constantly the abnormality (EDS). Variable numbers of the patients with scores 1 to 5 displayed the abnormality (forme fruste). The abnormality did not correspond with variation of laxity. Marfan syndrome and osteogenesis imperfecta were indistinguishable from EDS by the abnormality. Some of the normal persons in the EDS pedigree and some controls also showed the abnormality. The abnormality expressed the disposition for heritably defected collagen fibril formation.
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Of 300 assorted patients with various congenital abnormalities of the hand, there were 12 with mutiple malformations. It can be concluded that: 1. An accurate diagnosis requires genetic and chromsomal investigations. 2. If there is a slight organic or mental abnormality or damage, the treatment of the hand abnormality is justifiable and should be treated just as an isolated abnormality. 3. If the associated somatic or mental abnormality is severe, the correction of the hand abnormality should be delayed in accordance with the overall status of the child.
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Congenital malformations
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A recent report from a population-based survey of hearing loss in 2015 older adults showed that the overall prevalence of central auditory processing (CAP) abnormality was high at 76.4% using abnormality on one or more of seven speech-based test outcomes as the criteria. The present study grouped these test outcomes to reflect increasing severity of CAP abnormality and examined the relationship between this graded dependent variable and 16 independent variables. Logistic regression modeling suggested that moderate and severe CAP abnormality increased with age and was associated with increased hearing handicap, and men were more likely than women to show severe abnormality. While 98.5% of the population passed a cognitive screening assessment, declining cognitive function was still associated with the increased likelihood of CAP abnormality.
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Chromosomal Abnormality
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Chromosomal Abnormality
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