Heritabilities,by the multiple abstract variance analysis (MAVA) model and objective test measures,of personality traits U.I.23, capacity to mobilize,U.I.24, anxiety,U.I.26, narcistic ego and U.I.28, asthenia,by maximum-likelihood methods

Heritability coefficients are offered for four personality source traits, measured by the O-A (objective-analytic) 2-h performance battery. Five family constellations covering a total sample of 1221 boys 12–18 years old yielded nine concrete variances which the MAVA (multiple abstract variance analysis) model resolves into seven abstract variances: ² _wg , within family genetic; ² _wt.s , within family threptic; ² _wt.t , within family threptic for twins; ² _bg , between family genetic; _bgbt , correlation of genetic and threptic deviations across families, etc. Maximum likelihood was the method here used for the MAVA analysis. The best fit with maximum parsimony was to assume no genothreptic ( _wgwt , _bgbt ) correlations, but extension to the parsimony of assuming either no genetic or no threptic components gave no fit. The heritabilities found were compared with those from an earlier research and from a different (OSES) method applied to the present data. The agreement is quite good in assigning a moderate heritability value tocapacity to mobilize vs. regression, U.I.23 (H about 0.30), and toanxiety, U.I.24 (H about 0.50); only moderately consistent in assigning a moderateH value toasthenia, U.I.28 (H about 0.30); and poorly consistent in assigning a lowH value tonarcistic ego, U.I.26. It is pointed out (a) that the lowH for U.I.28 fits the theory of the origin of this trait well and (b) that, in view of estimates of the function fluctuation of U.I.23 and 24, a most probable conclusion is that a capacity to mobilize is quitesubstantially innate and a general proneness to anxiety islargely innate.     

Hydrocephalus induced by immunological blockage of the subcommissural organ–Reissner's fiber (RF) complex by maternal transfer of anti-RF antibodies

Stenosis of the cerebral aqueduct seems to be a key event for the development of congenital hydrocephalus. The causes of such a stenosis are not well known. Overholser et al. in 1954 (Anat Rec 120:917-933) proposed the hypothesis that a dysfunction of the subcommissural organ (SCO) leads to aqueductal stenosis and congenital hydrocephalus. The SCO is a brain gland, located at the entrance of the cerebral aqueduct, that secretes glycoproteins into the cerebrospinal fluid that, upon release, assemble into a fibrous structure known as Reissner's fiber (RF). By the permanent addition of new molecules to its rostral end, RF grows and extends along the aqueduct, fourth ventricle, and central canal of the spinal cord. The immunological blockage of the SCO-RF complex has been used to test Overholser's hypothesis. The following was the sequence of events occurring in pregnant rats that had been immunized with RF glycoproteins: the mother produced anti-RF antibodies and transferred them to the fetus through the placenta and to the pup through the milk, and the antibodies reached the brain of the fetus and pup and blocked the SCO-RF complex. This resulted in a permanent absence of RF that was followed by stenosis of the cerebral aqueduct, and then by the appearance of hydrocephalus. The latter was patent until the end of the 6-month observation period. The chronic hydrocephalic state appeared, in turn, to induce new alterations of the SCO. It is concluded that a selective immunological knock out of the SCO-RF complex leads to hydrocephalus.     

Duplication 18q syndrome

Some variation in the phenotype of patients with dup(18q) is recognized. Our patient has the phenotype described for dup(18qter).     

Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature

We describe a female newborn girl with partial trisomy 17p, which was not detected at the initial cytogenetic investigation, but which later proved to be an unbalanced product of a paternal translocation t(8; 17)(p23;pl 1.2). Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin upper lip, micrognathia and high-arched palate. Two of the four patients had a heart defect, and psychomotor developmental delay was evident in all four cases. In the present patient, the chromosomal anomaly was only detected after the finding of the autosomal reciprocal translocation in the father. The importance of cytogenetic investigations in parents of a MCA/MR child with apparently normal chromosomes is emphasized.     

Adjustment in Childhood Brain Tumor Survival: Child, Mother, and Teacher Report

Examined the adjustment of 6- to 18-year-old children and adolescents(n = 38) 2 to 5 years postdiagnosis of brain tumor with respectto standardized measures of anxiety and depression; self-perceptions;and adaptive living skills. Child, mother, and teacher reportdata were used. Maternal adjustment (anxiety and depression,parenting stress) was also assessed. Children and adolescentssurviving brain tumors reported themselves to be generally withinthe normal range. However, maternal ratings of social problemswere higher than normative scores and significantly lower thannorms on social problems, scholastic competence, and communicationskills. Teacher ratings on the Teacher Rating Form were allwithin normal limits. Maternal adjustment measures were withinthe normal range, although the Parent-Child Dysfunctional Interactionsubscale of the Parenting Stress Index was elevated. No differencesin scores were found between children in regular and specialeducation, or between children who had received radiation andthose who did not. This sample of survivors of pediatric braintumors and their mothers had relatively mild problems in adjustment,supporting a competency-based view of the adaptation of pediatricpatients and their families.     

Aberrant T cell responses to myelin antigens during clinical exacerbation in patients with multiple sclerosis

Multiple sclerosis (MS) is a demyelinating disease of presumed T cell autoimmunity against self myelin. We hypothesized that if myelin-reactive T cells are associated with the disease processes, they may undergo activation and expansion during acute exacerbation. In this study, we examined the precursor frequency, epitope recognition and cytokine profile of myelin-reactive T cells in 14 relapsing/remitting MS patients during exacerbation and remission. The study revealed that T cells recognizing the immunodominant peptides of candidate myelin antigens, including myelin basic protein (MBP), proteolipid protein and myelin oligodendrocyte glycoprotein, occurred at increased precursor frequency during acute exacerbation. The T cell responses to MBP focused on the immunodominant regions (residues 83-99 and 151-170) during exacerbation and shifted toward other epitopes of MBP at the time of remission. Furthermore, there was a marked increase in the production of T(h)1 cytokines among T cell lines obtained during exacerbation compared to those obtained during remission. The study demonstrated that myelin-reactive T cells underwent selective activation and expansion during acute MS exacerbation. In contrast, myelin-reactive T cells found during remission in the same patients generally resembled those identified in healthy controls with some discrepancies. The findings suggest potential association of aberrant myelin-reactive T cell responses with acute exacerbation in MS, which may reflect transient activation of myelin-reactive T cell populations of pathogenic potential.     

Central effects of aldosterone infused into the rat subcommissural organ region

D-Aldosterone (5 ng/microliter/h) was infused for 6 days into the region of the subcommissural organ (SCO) of conscious, adult male Sprague-Dawley rats. Aldosterone increased urinary sodium loss and the sodium/potassium ratio. Although probably central in origin, these effects still occurred when cannulae were displaced up to 1 mm from the targeted SCO placement. Aldosterone decreased adrenal medullary cross-sectional area without affecting cell density. This effect was highly dependent on proper cannula placement and was not observed when the cannula tip was not in contact with the cerebrospinal fluid of the pineal recess over the rostral two-thirds of the SCO. We conclude that aldosterone increases sodium excretion by an action in the SCO and/or adjacent structures. We also postulate a negative trophic relationship between mineralocorticoids and the adrenal medulla mediated by the SCO.     

Interstitial deletion of band q12 of chromosome 5

A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.
The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12.