Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84

A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere by in situ hybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker chromosomes, and thereby provide better understanding of the clinical significance of these.     

Intraoperative blood salvage in cancer surgery: safe and effective?

To support blood supply in the growing field of cancer surgery and to avoid transfusion induced immunomodulation caused by the allogeneic barrier and by blood storage leasions we use intraoperative blood salvage with blood irradiation. This method is safe as it provides efficient elimination of contaminating cancer cells, and as it does not compromise the quality of RBC. According to our experience with more than 700 procedures the combination of blood salvage with blood irradiation also is very effective in saving blood resources. With this autologous, fresh, washed RBC a blood product of excellent quality is available for optimal hemotherapy in cancer patients.     

Scotopic stimulus/response relations of the B-wave of the electroretinogram

Scotopic b-wave stimulus/response (S/R) functions are abnormal in several human retinal degenerative disorders. However, the mechanisms by which diseases affect the S/R parameters are not yet fully known. Three experiments were done to simulate functional pathologies known to occur in retinal degenerations: 1) attenuated sensitivity of retinal units, 2) loss of rhodopsin, 3) loss of sensitivity with little or no loss of rhodopsin. None of the experimental perturbations of normal function replicated the pattern of S/R abnormalities caused by retinal degenerations. Thus, in the retinal degenerative disorders intrinsic abnormalities of cellular processing must affect the organization of distal retinal function indexed by the b-wave.     

Facilitation of ethanol consumption by intracerebroventricular infusions of corticosterone

Male Wistar rats bearing intracerebroventricular (ICV) cannulae and with simultaneous access to 6% ethanol and water were subjected to adrenalectomy (ADX) or sham surgery. ADX decreased ethanol intake. Starting a few days later, the animals received ICV infusions with 100 μg corticosterone acetate (CORT) with 2-to 3-day intervals for 2 weeks. ICV CORT, but not SC CORT at the same dose, restored ethanol consumption in ADX rats to preoperative levels, whereas vehicle infusions (propylene, glycol) did not. Adrenally intact animals, which normally consumed moderate amounts of ethanol (≈0.5 g/kg per day), also showed a robust effect of ICV infusions of CORT, whereas this facilitatory effect was not observed in high consumers (≈3.0 g/kg per day). The suppressive effect of ADX on ethanol intake was not reproduced by concurrent and repeated ICV infusions of intracellular mineralocorticoid (RU 28318) and glucocorticoid (mifepristone) receptor blockers. It is concluded that CORT stimulates alcohol consumption by acting in the brain, probably by way of neuronal membrane mechanisms.     

Angiography and magnetic resonance imaging of aortic dissection

This review article describes and illustrates the role of angiography and magnetic resonance imaging in the evaluation of aortic dissection. Clinical findings, complications, classification, and treatment of dissection are reviewed as well.     

Sensitivity of laser-evoked potentials versus somatosensory evoked potentials in patients with multiple sclerosis.

OBJECTIVE: Somatosensory evoked potentials (SEPs) play a less important role in the diagnosis of multiple sclerosis (MS) than visually evoked potentials. Since standard SEPs only reflect the dorsal column function, we now investigated spinothalamic tract function in patients with MS using laser-evoked potentials (LEPs). METHODS: LEPs to thulium laser stimuli (3ms, 540 mJ, 5mm diameter) were recorded from 3 midline positions (Fz, Cz, Pz) in 20 patients with MS, and 6 patients with possible but unconfirmed MS. Peak latencies and peak-to-peak amplitude of the vertex potential negativity (N2) and positivity (P2) were evaluated and compared with normative values from 22 healthy control subjects. Median and tibial nerve SEPs were recorded with standard methods. Depending on the results of sensory testing, two skin areas (both hands, both feet, or one hand and foot of the same body side) were assessed in each patient. RESULTS: In group comparisons, LEPs in patients with MS were significantly delayed and reduced in amplitude compared with healthy subjects (P<0.001) or patients with suspected but unconfirmed MS (P<0.05). In intraindividual comparisons within the patients with MS, LEP amplitude was significantly lower (P<0.01) and latencies were significantly longer (N2: P<0.01; P2: P<0.05) for a clinically hypoalgesic skin area than an unaffected control area. On a single case basis, LEPs were abnormal in 12 (60%) and SEPs in 8 (40%) of the patients with MS; combined analysis of LEPs and SEPs raised sensitivity to 75% (15 patients). LEPs were also abnormal for 7 skin areas with clinically normal nociception and thermal sensitivity, indicating subclinical lesions. Standard SEPs detected subclinical lesions in 5 areas with normal tactile sensitivity. CONCLUSIONS: In patients with multiple sclerosis, spinothalamic tract function and LEPs were impaired more often than dorsal column function and SEPs. LEPs also detected subclinical lesions. Combined assessment of LEPs and SEPs can help to document dissemination of demyelinating CNS lesions and thus contribute to the diagnosis of multiple sclerosis.     

Cutaneous manifestations of Lyme borreliosis

Summary The dermatological symptoms of Lyme borreliosis present with a typical clinical pattern and characteristic time of appearance. In contrast to other manifestations of Lyme borreliosis they are easily recognizable in most of the cases. In the first stage, erythema migrans arises at the tick bite site. With this symptom the diagnosis of Lyme borreliosis can be established. During all manifestations of Lyme borreliosis the history of erythema migrans is an important parameter to verify the diagnosis. In the early stage of disease a lymphocytic proliferation can appear at the tick bite site, at the ear lobe, or at the mamilla. Borrelia lymphocytoma can be diagnosed when antibodies againstBorrelia burgdorferi are positive. Years after infection, acrodermatitis chronica atrophicans arises at distal body sites causing livid swelling and gradually skin atrophy. Skin lesions can be accompanied by neuropathies, mostly of the lower legs, which in contrast to the skin lesions, do not respond well to antibiotic therapy. There is evidence that some cases of Shulman syndrome, morphea and lichen sclerosus et atrophicus might be related to a borrelia infection as indicated by cultivation ofB. burgdorferi from skin biopsies of morphea and response to antibiotic treatment in some cases. The classical dermatological symptoms of Lyme borreliosis, erythema migrans, borrelia lymphocytoma and acrodermatitis chronica atrophicans respond to oral antibiotic treatment. In acrodermatitis chronica atrophicans parenteral antibiotic therapy is sometimes necessary.

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Hautmanifestationen der Lyme-Borreliose

Zusammenfassung Dermatologische Manifestationen der Lyme-Borreliose zeichnen sich durch ihr charakteristisches Erscheinungsbild und durch den typischen Zeitpunkt ihres Auftretens aus und sind im Gegensatz zu anderen Symptomen meist gut zu diagnostizieren. Die Diagnose des Erythema chronicum migrans, das an der Zeckenstichstelle entsteht, erlaubt einerseits die exakte Diagnose einer Lyme-Borreliose und stellt in Spätstadien oft einen wichtigen anamnestischen Parameter zur Verifizierung einer durchgemachten Borrelieninfektion dar. Lymphozytäre Proliferationen können einerseits an der Zeckenstichstelle, andererseits auch an abstehenden Körperpartien beobachtet werden. Ein Borrelienlymphozytom kann dann diagnostiziert werden, wenn Antikörper gegenBorrelia burgdorferi nachweisbar sind. Die Acrodermatitis chronica atrophicans entsteht nach jahrelanger Latenz an abstehenden Körperpartien und führt zur Hautatrophie. Gelegentlich sind Begleitneuropathien möglich, welche im Gegensatz zu den Hautveränderungen auf die antibiotische Therapie nicht so gut ansprechen. Es gibt Berichte, wonach einige Fälle von Shulman Syndrom, Morphea und Lichen sclerosus et atrophicus auch durch eine Infektion mitB. burgdorferi verursacht werden. Die Isolierung vonB. burgdorferi aus Morphealäsionen dürfte dazu einen direkten Hinweis geben. Die klassischen dermatologischen Symptome Erythema chronicum migrans, Borrelienlymphozytom und Acrodermatitis chronica atrophicans sprechen auf orale antibiotische Therapie an. Bei letzterer Erkrankung muß manchmal auf eine parenterale antibiotische Therapie zurückgegriffen werden.