Effectiveness of the Kaufman Brief Intelligence Test in people with Prader-Willi syndrome.

BACKGROUND: Evaluating intelligence using conventional tools is very complex in patients with Prader-Willi Syndrome (PWS), as it is time consuming and requires levels of care that are difficult to sustain for this population. Therefore, we explore the ability of a brief test to assess intelligence in these patients. METHODS: This study included individuals with a genetically confirmed diagnosis of PWS, with regular attendance at transdisciplinary treatment in an institution dedicated to the care of rare diseases in Argentina. The Wechsler Intelligence Scale for Children (WISC-IV), the Wechsler Adult Intelligence Scale (WAIS-III) and the Kaufman Brief Intelligence Test (K-BIT) were used. RESULTS: Correlation was obtained between the scales in paediatric and adult populations. Within the paediatric population, no significant differences were identified between the WISC-IV scale (Wechsler for paediatrics) and the K-BIT (56.4 ± 8.6, vs. 53.4 ± 10.1, P = 0.28), with a good agreement between the methods {intraclass correlation 0.79 [95% confidence interval (CI) 0.15-0.95]}. Regarding the adult population, the discrimination of the WAIS-III scale (Wechsler for adults) and the K-BIT of adults (16 years and over) presented an acceptable concordance [0.77 (95% CI -0.09; 0.93)], although also underestimating the results (58.3 ± 7.2 vs. 51.1 ± 11.2, P < 0.0001). CONCLUSIONS: We observed the feasibility and potential usefulness of a brief intelligence test (K-BIT) in patients with PWS with an acceptable agreement with conventional tools.

[Acceptance of preoxygenation in clinical routine by patients and by anaesthesiologists]. / Akzeptanz der Präoxygenierung in der klinischen routine.

Preoxygenation is a simple technique to expand the time under planned apnea till the patient is endangered by hypoxia. In this study, we analysed how preoxygenation is used by anaesthesiologists in clinical routine and how this method is tolerated by the patients. One hundred and twenty-one anaesthesiologists of 4 hospitals were interviewed anonymously about training level, rank, indication for preoxygenation and techniques of preoxygenation, as well as their estimation of the patients' discomfort during preoxygenation. Data on 100 patients about oxygen-mask-tolerance were acquired by an anonymous questionnaire from a standard quality control inquiry. We received back 76 of the 121 questionnaires of anaesthesiologists (63 %). Fifty-nine percent of the anaesthesiologists (45/76) preoxygenated in clinical routine. With increasing training time and higher ranks, less anaesthesiologists preoxygenated routinely: junior residents: 80 %; senior residents: 68 %; consultants: 60 %; assistant medical directors: 48 %.80 % of the anaesthesiologists (61/76) used imperfect techniques for preoxygenation (e. g. oxygen-flow < 8 l/min). At the time of preoperative evaluation, the patients estimated the discomfort during preoxygenation on a continuous scale (1 to 10) as 2 (median; 1 - 7: 95 % confidence interval). Postoperatively, the patients mentioned no discomfort: 1 (1 - 1). The anaesthesiologists overestimated their patients' discomfort significantly with 5 (3 - 7) (p < 0.001).In conclusion, preoxygenation, a simple safety procedure, is not routinely used by many anaesthesiologists and imperfect methods are often employed. A possible reason for the anaesthesiologists' reluctance to preoxygenate is an overestimation of the patients' discomfort, though the patients tolerate preoxygenation very well.

[The significance of nitric oxide in nociception and spinal pain processing]. / Die Bedeutung von Stickstoffmonoxid (NO) für Nozizeption und spinale Schmerzverarbeitung.

Nitric oxide (NO) has been shown to be involved in the generation and processing of pain signals. Most experimental studies on animals and also the few observations in humans point to an involvement of the NO-system in inflammatory pain, whereas acute pain and chronic pain without inflammatory component seem to be independent of NO. It is yet unknown whether specific inhibition of the NO pathway is useful for treatment or prevention of inflammatory pain in humans.

Frequency response characteristics of sympathetic transmission to skin vascular smooth muscles in rats.

Sympathetic modulation of cutaneous vasomotor waves in humans is most effective at frequencies up to 0.1 Hz. In contrast, sympathetic modulation of mesenteric vasomotor waves in rats is strongest in the frequency band between 0.2 and 0.75 Hz. Therefore, we addressed the question as to whether these different frequency response characteristics are due to species- or organ-specific disparities. Eleven Sprague-Dawley rats were instrumented with catheters in the carotid artery and in the jugular vein, together with electrodes on the centrally sectioned left lumbar sympathetic trunk (LST) and laser Doppler flow probes directed to the plantar surface of the skin of the left and right hind paws. In anesthetized rats, the LST was electrically stimulated at eight different stimulation frequencies, and the responses in laser Doppler blood flow were recorded in the skin of the ipsilateral and contralateral paw. At stimulation frequencies <0.2 Hz, LST stimulation induced corresponding oscillations in skin blood flow in the ipsilateral, but not in the contralateral, paw. These dynamic responses to LST stimulation in the ipsilateral paw were strongest at 0.05 and 0.075 Hz. At higher stimulation frequencies a tonic vasoconstriction was observed. It is concluded that organ-specific disparities exist in sympathetic transmission to vascular smooth muscles, whereas no species-specific differences are apparent in sympathetic transmission to cutaneous blood vessels of humans and rats.

Effects of nociceptin and nocistatin on antidromic vasodilatation in hairless skin of the rat hindlimb in vivo.

1. We tested whether nociceptin (NCE), the endogenous ligand of the opioid receptor-like 1 (ORL1) receptor, and nocistatin (NST), which reverses central NCE effects when applied intrathecally (i.t.), affect small-diameter afferent fibre-mediated vasodilatation in rat hairless skin. 2. Female Wistar rats were vagotomized. Ongoing sympathetic vasoconstrictor activity was abolished by bilateral section of the lumbar sympathetic trunk between ganglia L2 and L3. Sensory axons were selectively stimulated in the dorsal root L5 by 20 electrical impulses supramaximal for activating C-fibres at 1 Hz. Blood flow was measured on the plantar skin of the left hind paw in the L5 dermatome using laser Doppler flowmetry. 3. NCE injected intravenously (i.v.) as single boluses (1, 10 and 100 nmol kg(-1) 7 - 8 min before dorsal root stimulation (n=6) dose-dependently decreased blood pressure and local vascular resistance and suppressed antidromic vasodilatation maximally by 47% (P<0.01). When NCE was injected 2 min before stimulation (n=3), antidromic vasodilatation was reduced by 64% after NCE (1 nmol kg-1) and totally, or almost totally, abolished after the two higher doses. 4. NST (1 - 100 nmol kg(-1) i.v., n=6) was without significant effect on blood pressure and cutaneous vascular resistance. Applied 5 (n=6) or 2 min (n=3) before stimulation it also did not affect antidromic vasodilatation. NST (100 nmol kg(-1) i.v.) applied shortly before an equimolar dose of NCE did not antagonize NCE effects on vascular resistance, blood pressure and antidromic vasodilatation (n=4). 5. In conclusion, NCE inhibits antidromic vasodilatation, a component of neurogenic inflammation, in rat skin while NST is without effect. NST, at the small-diameter sensory ending, is not an effective antagonist of NCE.

Involvement of neurokinins in antidromic vasodilatation in hairy and hairless skin of the rat hindlimb.

By intravenous application of the specific neurokininl receptor antagonist SR 140333 and the specific calcitonin gene-related peptide receptor antagonist CGRP8-37 we tested to what extent neurokinins (substance P, neurokinin A) and calcitonin gene-related peptide are involved in mediating antidromic vasodilatation in skin of anaesthetized Wistar rats. The lumbar sympathetic chain was sectioned bilaterally between ganglia L2 and L3 to remove ongoing vasoconstrictor activity to the hindquarter. The left dorsal root L5 was stimulated electrically at 1 Hz with 20 pulses supramaximal for activating C-fibres to evoke antidromic vasodilatation which was measured with laser Doppler flowmetry on the glabrous plantar skin and the hairy skin of the lower hindlimb within the left L5 territory. Stimulation-induced vasodilatation was tested after applying SR 140333 (0.1 mg/kg) and CGRP8-37 (0.3 mg/kg) alone or in combination. SR 140333 delayed the onset of the vasodilatation, but did not change its amplitude. CGRP8-37 reduced the amplitude and duration of the vasodilatation, but did not affect the latency of its onset. In combination, SR 140333 potentiated the effect of CGRP8-37 on the amplitude of the vasodilatation in glabrous but not in hairy skin and CGRP8-37 potentiated the delayed onset produced by SR 140333 in both cutaneous tissues. Antidromic vasodilatation in glabrous skin was almost totally blocked by SR 140333 (0.1 mg/kg) in combination with CGRP8-37 (0.45 mg/kg), but a substantial dilatation remained in hairy skin. It is concluded that in rat glabrous skin the vasodilatation evoked by a low level of activity in small-diameter primary afferents is likely to result from the release and synergistic action of neurokinins (substance P and/or neurokinin A) and calcitonin gene-related peptide, while in hairy skin neurokinins are involved to a minor extent only.

Functional evidence for the differential control of superficial and deep blood vessels by sympathetic vasoconstrictor and primary afferent vasodilator fibres in rat hairless skin.

We quantitatively investigated sympathetic vasoconstriction and antidromic vasodilation mediated by small-diameter primary afferents on the plantar hairless skin of the hindpaws in Wistar rats using laser Doppler (LD) flowmetry and an infrared thermometer. Sympathetic vasoconstriction was elicited by electrical stimulation of the centrally cut ipsilateral lumbar sympathetic trunk (LST) with 50-s trains at 0.1-20 Hz. Antidromic vasodilation was evoked by electrical stimulation of the dorsal root (DR) L5 with 20-s or 50-s trains at 1-4 Hz. Cutting the LST resulted in increases in skin temperature (SKT) by 6.1 +/- 1.0 degrees C (mean +/- SEM) and in LD flow by 128 +/- 20%. Stimulation of the LST resulted in a graded decrease in LD flow and SKT that was most pronounced between 0 and 0.1 Hz. However, DR stimulation evoked a large increase in LD flow but only little change in SKT in rats with sectioned LST. When the DR was stimulated either in animals with intact LST or during continuous stimulation of vasoconstrictor fibres in the sectioned LST, i.e. while baseline temperature was relatively low (26.3 +/- 1.1 degrees C), DR stimulation still resulted in large increases in LD flow, but only minor changes in SKT. These results suggest that blood flow through both deep and superficial layers of rat hairless skin is regulated by activity in sympathetic postganglionic vasoconstrictor fibres, whereas small-diameter primary afferent fibres appear to influence predominantly the blood flow through superficial layers of rat plantar skin.

[Diagnosis of a retroperitoneal BCG abscess in an infant. Case report and review of the literature]. / Diagnostik eines retroperitonealen BCG-Abszesses bei einem Kleinkind. Fallbeschreibung und Literaturübersicht.

We report on a Tunesian boy who was 1 year and 9 months of age and suffered from a large retroperitoneal Bacillus Calmette-Guerin (BCG) abscess. We specially emphasise the accurate diagnosis achieved by the interpretation of the sonographic results in association with the patient's anamnesis. The outcome of abdominal x-ray and contrast-enhanced CT is outlined. The diagnostic approach as well as the disease are described with reference to the literature.

The immune response against the ASV-coded src-gene product in syngeneic mice.

The antigenicity of the avian sarcoma virus (ASV)-coded src-gene product pp60src, which is responsible for fibroblast transformation after ASV infection, has been investigated in STU mouse fibrosarcoma cell lines and the corresponding immune response in syngeneic mice has been determined. The development of effective anti-pp60src antibody titres depends on the mode and stie of injection of tumour cells and parallels tumour growth. It was found that mouse immunoglobulin heavy chains are unable to serve as substrate for the protein kinase activity of pp60src. Therefore, an indirect protein kinase absorption (PKA) test was initiated to demonstrate recognition of the protein kinase activity associated with the src-gene product. The availability of syngeneic mice and the corresponding ASV-transformed tumour cells should facilitate studies designed to elucidate the possible relationship between the cytoplasmic pp60src and ASV-induced tumour-specific surface antigens (TSSA), for example, by allowing the production of stable mouse hybridomas synthesizing antibodies specific for pp60src and TSSA.