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Angelman's syndrome and 15q11-q13 deletion.

We discuss the results of cytogenetic reinvestigation in 10 patients with Angelman's syndrome reexamined during the last year. A deletion with 15q11-13 could be demonstrated in 6 of them, confirming that with the available cytogenetic techniques a 15q11-13 deletion is visible and detectable in at least half of the patients with this MCA/MR syndrome. On the other hand, the deletion could not be seen in two affected siblings. This indicates that de novo visible 15q11-13 deletions with low recurrence risk and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%.

Abnormalities, Multiple↗

[Smiling of preschool children in performance-oriented situations: assessment of the emotional significance in relation to other facial expressions].

The goal of the reported experiment was to study how adults judge the meaning of different kinds of smiling and laughing by preschool children, and the role played by other facial movements in determining this meaning. Videotapes and photographs of spontaneous facial expressions of children in a play situation served as stimuli. The results show that different kinds of smiling were judged by the adult subjects as being significantly different from each other. In order to find subgroups within the stimuli, cluster analyses were performed, and the resulting clusters indicated different mixtures of positive and negative emotions contained within the pictures. Regression analyses showed that the adults' judgements were dependent on the number of indicators for positive and negative emotions which could be seen in the pictures. The most important indicator movement for the judged strength of the positive emotion expressed in the smile was the raising of the cheeks and, for negative emotions, the lowering of the lip corners. The significance of the components of the expressions as well as the strength of the expressed emotion were, however, dependent on the mode of presentation (video/photo).

Achievement↗

[The dissociated laughing and weeping in apoplectic insult (author's transl)].

A patient with the volitional type of facial palsy showed in the arteriography an obstruction of the middle cerebral artery without affecting the thalamostriatal arteries. As laughing and weeping are motivated in the cerebral trunc they must have been projected through the mesopallium (which includes the thalamus) to the facial nuclei. These two behaviour elements did not show any modification on the paretic side, indicating so, that they are phylogenetic old elements, normally modified by the volitional influence. The original weeping expresses an appeal to the companion, the original laughing the readiness of affilation.

Adult↗

Treatment of pathologic emotionality with thyrotropin-releasing hormone.

Thyrotropin-releasing hormone (TRH) has been reported to be effective in some neuropsychiatric diseases. We examined the effect of TRH on the syndrome of pathologic laughing or crying in four patients with multiple cerebral infarction and one with olivo-ponto-cerebellar atrophy (OPCA). We found a marked therapeutic effect of the peptide on pathologic laughing with a slight improvement in ataxia in a patient with OPCA. A marked diminution in frequency of their pathologic crying with TRH was achieved in two patients with multiple cerebral infarction. The two other patients did not respond to TRH. Levodopa was administered to these patients to compare with TRH in therapeutic efficacy on the symptom and was effective in only one of four patients. The concentration of homovanillic acid in cerebrospinal fluid had diminished in two of the four patients. The results suggest that the tripeptide is effective in the control of this syndrome. We discuss the underlying mechanism(s) of the syndrome and the mode(s) of action of TRH.

Affective Symptoms↗

HIV-1-stimulated expression of CD11/CD18 integrins and ICAM-1: a possible mechanism for extravascular dissemination of HIV-1-infected cells.

To identify mechanisms which might facilitate emigration of HIV-1-infected cells from the circulation, we studied the effect of HIV-1 infection on T lymphocyte and monocytoid cell expression of molecules involved in adherence and translocation of leukocytes across endothelial cell barriers. CD11a, CD18, and ICAM-1 were demonstrated on up to 80% of HIV-1-infected H9 T cells by flow cytometry; these molecules were not evident on uninfected H9. CD18 mRNA was detected in HIV-infected, but not in uninfected H9 T cells. Cell surface expression of CD11a and CD18, but not ICAM-1, was increased on HIV-infected, as compared to uninfected U937 and THP1 monocytoid cells. Increased cell surface expression of the leukocyte integrins was associated with a significantly increased tendency of HIV-infected monocytoid cells to adhere to human umbilical vein endothelial cell monolayers or aggregate homotypically. Preincubating the monocytoid cells with anti-CD18 or anti-CD11a or preincubating endothelial cells with anti-ICAM-1 suppressed these cell to cell interactions. These studies suggest that HIV-1 infection stimulates cell surface expression of molecules involved in leukocyte adherence and transendothelial migration in vitro. Similar mechanisms may influence leukocyte trafficking, in vivo, and may play a role in the localization of HIV-1 infected cells in the central nervous system and other tissues.

Antigens, Differentiation↗

[Treatment of pathological laughing with amitriptyline].

We investigated the efficacy of amitriptyline in seven patients with pathological laughing caused by cerebrovascular diseases. In a double-blind placebo-controlled cross-over trial comparing amitriptyline with placebo, 5 of these 7 patients were judged to have shown improvement with amitriptyline, and 1 patient improved with placebo. This difference was statistically significant. No significant side effect of amitriptyline was observed. There was no significant change between amitriptyline and placebo in both self-rating depression scale and minimental state test score. These results suggested that amitriptyline was useful in treating pathological laughing.

Aged↗

Humor. A therapeutic approach in oncology nursing.

Humor theory has evolved from various disciplines. Numerous professionals have published literature and research studies that examine the historical perspective of humor and the current practice of humor in health care. Historically, researchers have found humor to be an unconscious activity developed from childhood to adulthood. They describe humor as spontaneous and incongruent, involving a changing state of mind. Currently, health care professionals and patients are utilizing humor as a coping mechanism, as a communication skill, and as a tool to promote the psychological and physiological healing process. This article describes how humor theory has evolved, the use of humor in health care, and humor as an adjunct therapy in oncology. Oncology nurses can utilize humor as a part of the nursing process in the care provided to patients and families.

Adaptation, Psychological↗

Protein kinase activation and the immunosuppressant cyclosporine.

Cyclosporine (CsA), a potent immunosuppressant for the prevention of transplant rejection, modulates T lymphocyte activation by blocking antigen stimulation and the production of interleukin-2. The mode of action by which CsA generates this immunosuppressive effect is unknown. We have studied two early intracellular enzymes associated with mitogen activation. They include calcium/phospholipid-dependent protein kinase (C-kinase) and cAMP-dependent protein kinase (cAMPd PK). Changes in protein kinase activation were correlated with the immunosuppression of polyamine and DNA synthesis measured by ornithine decarboxylase (ODC) induction and 3H-thymidine incorporation, respectively. These studies utilized murine T cell tumor lines sensitive to the effects of CsA. Similar to the mitogen activation of human peripheral blood lymphocytes, CsA was capable of inhibiting the induction of ODC and 3H-thymidine uptake of T cell tumor lines cultured with either fresh serum or mitogen. In contrast, C-kinase and cAMPd PK activation stimulated by the addition of fresh serum was not affected by CsA. Further, CsA did not inhibit the direct activation of C-kinase with phorbol esters or the activation of cAMPd PK with exogenous cAMP. We conclude that CsA does not affect the activation of either C-kinase or cAMPd PK in T cell tumor lines when activated by either fresh serum or when stimulated with chemical agents. The suppression of ODC induction and 3H-thymidine incorporation associated with CsA treatment cannot be accounted for with changes in C-kinase and cAMPd PK activation.

Animals↗

[Angelman syndrome].

An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient. The incidence of the Angelman-syndrome may be underestimated.

Abnormalities, Multiple↗

Three suppressor systems in human blood that modulate lymphoproliferation.

Three suppressor system of T lymphocyte proliferation found in normal blood were characterized. The adherent cell suppressor system (ACSS) is effected by a steroid and radioresistant monocyte that survives well in culture. The prostaglandin-related suppressor system (PgSS) is effected by a similar cell but is distinct from the ACSS in terms of magnitude of suppression, effective monocyte concentration, and carrageenan or indomethacin sensitivity. The induced suppressor system (ISS) is effected by a T lymphocyte that is partially radiosensitive and loses activity after 24 hr in culture. Although the ISS is unaffected by age, ACSS and PgSS activity is, overall, higher among elderly than among young adult subjects. Activation of these three suppressor systems does not require cell replication. They are not restricted by histocompatibility barriers.

Adult↗