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A Boveri perspective on cancer biomarker testing using artificial intelligence.

Artificial intelligence (AI) can predict genomic alterations from histology, yet its adoption is slowed by a lack of trust. We argue that deliberate morphology (i.e., a cognitive understanding of histological features supported by standardized annotations) creates a bidirectional feedback loop between clinical practice and model outputs.We translate these observations into an actionable hypothesis for clinical and computational teams: that by enhancing explainability, deliberate morphology could facilitate the responsible deployment of AI biomarkers in oncology.

Journal Article↗

Mental status and fragile X expression in relation to FMR-1 gene mutation.

The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat in the FMR-1 gene. Clinical expression is associated with a large expansion of the CGG repeat. The mutation in the FMR-1 gene and the cytogenetic expression of the fragile site at Xq27.3 have been studied in 52 fragile X male patients. The percentage of the cytogenetic expression of the fragile site at Xq27.3 positively correlates with the mean size of the full mutation in the FMR-1 gene (p < 0.0001) irrespective of the presence of additional premutation alleles. We noted a less frequent occurrence of additional premutation alleles in adult patients compared with juveniles, suggesting a continued mitotic instability in life. Additionally, the level of mental retardation has been ascertained in 35 patients using the Stanford-Binet or Terman-Merrill test of general intelligence. The presence of a full mutation in the FMR-1 gene seemed decisive for the occurrence of mental impairment in the patient. No correlation is observed between the degree of mental retardation and the size of the full mutation. The degree of mental retardation seemed not to be influenced by the presence of premutation alleles in part of the cells in addition to a full mutation. One patient is described with the 'Prader-Willi-like' subphenotype of the fragile X syndrome, showing a deletion in the FMR-1 gene in a part of his cells in addition to a full mutation.

Adult↗

Effect of long-term glycemic control on cognitive function.

OBJECTIVE: To investigate the relationship between recurrent hypoglycemia and cognitive impairment in insulin-dependent diabetic patients. RESEARCH DESIGN AND METHODS: Seventy patients who were diagnosed as diabetic at age 18 years or older, were under 55 years old, and had no condition likely to affect cognitive abilities were recruited from a diabetic register. Patients were interviewed to obtain information on the frequency of major and minor hypoglycemia. Their cognitive abilities were assessed on tests of premorbid intelligence, current intelligence, reaction time, concentration, memory, and information processing. RESULTS: There was a significant correlation between the apparent decline in intelligence, expressed as the discrepancy between the estimated premorbid and the actual performance intelligence quotient, and the frequency of major hypoglycemic attacks (rs = -0.30; P < 0.01). Comparison of patients with and without recurrent hypoglycemia showed few significant differences in cognitive ability. CONCLUSIONS: Results support previous work that suggests that major hypoglycemic attacks have a significant effect on some aspects of cognitive function, but the clinical importance of this finding remains to be determined.

Adult↗

Psychometric properties of Russell's short form of the Booklet Category Test.

Russell's short form of the Booklet Category Test was administered to 26 diagnosed schizophrenic patients and 14 normal individuals along with a test of premorbid intelligence. IQ correlated significantly (inversely) with errors and in particular with Subtests 3, 4, and 6. Age related directly to errors, especially for Subtests 3, 4, and 5. The mean Cronbach coefficient alpha was .71, indicating moderate item homogeneity across subtests. In sum, the shortened form appears to be an efficient and effective measure of concept formation among schizophrenic individuals.

Adult↗

Cognitive and personality factors associated with assaultive and domestic offenders.

An evaluation of domestic assaultive (n=46), general assaultive (n= 23) and nonassaultive (19 property offenders) groups was performed to compare cognitive (Test of Nonverbal Intelligence), personality (Minnesota Multiphasic Personality Inventory), aggression (Buss-Durkee Hostility Inventory), and criminal sentiments (Carlson Psychological Survey). Analysis showed minimal significant differences amongst the groups. A significant difference was found for the Verbal Hostility subscale of the Buss-Durkee Hostility Inventory. The domestic assaultive offenders were similar to the general assaultive and nonviolent offenders, with a greater disparity for the control group. Furthermore, a significant difference was noted for the Hypochondriasis scale of the Minnesota Multiphasic Personality Inventory. The general assaultive and control (n = 15) groups had similar scores, with the greatest difference found for nonviolent offenders who were least anxious. Discriminant analysis showed group membership could be identified for 89.1% of the domestic assaultive group.

Adult↗

[A study on general status and affecting factors on infant intellectual development in Changsha city].

OBJECTIVE: To evaluate the intellectual level of infants in Changsha city and analyze the main factors that affect infant intellectual development. METHODS: Two hundred and sixty infants were measured by Fagan Test of Infant Intelligence, who were randomly selected from Changsha city. RESULTS: The general intellectual level of infants in Changsha city was good; stepwise regression analysis revealed the main possible risk factors affecting intellectual development of infants in Changsha city were newborn asphyxiated at birth (B = -17.162), perinatal fever in the first trimester (B = -8.084), infant with abnormal temper (B = -6.295) and poor appetite (B = -3.103). Parental care (B = 4.622) possibly benefit the infant intellectual development. CONCLUSION: These data suggested that the main measures to promote infant intellectual development were more attention need to be paid to health care for women and children, prevention of perinatal disease and infant rearing in a scientific way.

Asphyxia Neonatorum↗

Otitis media in early childhood and cognitive, academic, and classroom performance of the school-aged child.

The relationship between the occurrence of otitis media during the first 3 years of life and cognitive, academic, and classroom performance during the third year of elementary school was evaluated in 44 socioeconomically disadvantaged children. The children attended a research day-care program where their otitis media experience and psychoeducational development were documented prospectively from birth. No significant relationship was found between otitis media in early childhood and performance on tests of verbal intelligence or academic achievement in the third year of school. The number of days of otitis media before 3 years of age was significantly correlated with teachers' ratings of children's attentional behavior in the classroom, however. Children with more early otitis media tended to be rated as less task oriented and less able to work independently than children with less otitis media. This was an exploratory study of a small number of children. Further study of the potential association is needed.

Child↗

Growth and development during the first year in a cohort of low income term-born American children.

BACKGROUND: Infants born small for gestational age (SGA) are at risk for poor postnatal growth and development. This study evaluates biologic and environmental determinants of outcome during the first year of life in a cohort of low income term-born American infants. METHODS: Seven hundred and seventeen of 949 (76%) singleton births to women followed from early pregnancy were studied over their first year of life and measures of growth, home environment, physical and cognitive development were obtained. Infants were categorized as SGA or non-SGA based on birthweight < 15th percentile for gestational age. SGA and non-SGA children's outcomes were analyzed by race, gender and symmetry. RESULTS: SGA infants were demographically similar to non-SGA infants but significantly lower in mean maternal height, weight and education. Birthweight, crownheel length and head circumference were all significantly smaller in SGA infants. By age 1 year, the SGA children were still shorter, lighter and had smaller head circumferences than the non-SGA children though their rate of growth during the first year was significantly greater for length and head circumference. Cognitive functioning as measured by the Bayley Scales of Infant Development and the Fagan Test of Infant Intelligence did not differ significantly except for a lower Bayley Psychomotor Development Index (PDI) in SGA infants. Since most of these children live in economically disadvantaged households, any negative consequences of poor intrauterine growth may be influenced by postnatal environment and longer term follow-up will be necessary to assess this relationship.

Alabama↗

The Peabody Picture Vocabulary Test as a measure of intelligence in children with palatal problems.

The Peabody Picture Vocabulary Test and the Wechsler Intelligence Scale for Children were administered to 33 children with palate problems. The correlations between PPVT and Wechsler IQ's ranged from .45 to .50 indicating that the Peabody is only a moderately good predictor of WISC scores in this population and suggesting that its utility in cleft palate children is limited. Additional data on the PPVT-WISC relationships are also presented and discussed.

Adolescent↗