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.     

Prevalence of extraesophageal reflux in patients with symptoms of gastroesophageal reflux.

OBJECTIVES: To compare the prevalence of extraesophageal reflux (EER) in patients with heartburn, posterior laryngitis (PL), and in healthy controls.Study design and setting A retrospective and prospective study including a total of 101 subjects who underwent 24-hour dual-probe pH monitoring. RESULTS: 52% of the subjects with heartburn had EER. No significant differences were found between the PL and heartburn groups for any pharyngeal reflux parameters. However, supine pharyngeal reflux was significantly more prevalent in heartburn patients with GERD than in PL patients and healthy controls (P < 0.05). Significant positive correlation (P < 0.01) was found between the percentage of time pH <4 in the pharynx and in the distal esophagus. CONCLUSION: EER occurs in the majority of heartburn patients who are lacking laryngeal symptoms. Abnormal distal esophageal acid exposure makes the occurrence of EER more likely. SIGNIFICANCE: EER appears to be a continuum without clear-cut differences between the groups.     

Changing patterns of intellectual strengths and weaknesses in males with fragile X syndrome

Examined the changing profiles of intelligence in males with fragile X syndrome as these individuals increased in chronological age. Using a psychometric instrument designed to measure styles of information processing, 21 males aged 4 to 27 years were examined cross-sectionally in sequential processing, simultaneous processing, and achievement. The age of the subject was associated with age-equivalent levels of both simultaneous processing and achievement, but fragile X males did not show higher levels of sequential processing with increasing chronological age. Compared to younger fragile X males, the older subjects were more delayed in sequential processing skills relative to their abilities in other areas. A smaller longitudinal study confirmed the presence of a plateau in sequential processing among those subjects tested two times after the age of 10 years. Implications are discussed for diagnosis, intervention, and the matching of subject groups in mental retardation research.This research was supported in part by the John Merck Fund, the Joseph P. Kennedy, Jr. Foundation, NIH grants RR00125 and HD03008, and NIMH grants MH18268 and MH30929. We thank Wendy Marans and Joel Bregman for their comments on an earlier draft of this paper.     

Cerebrospinal Fluid Density Influences Extent of Plain Bupivacaine Spinal Anesthesia

Background: The attempts to explain the unpredictability of extent of spinal block provided by plain local anesthetic solutions have resulted in many clinical reports; however, causes of this uncertainty are as yet unknown. Recently, normal values of the human cerebrospinal fluid densities have been studied showing important interindividual variations, especially between females and males. The current study was designed to evaluate as primary endpoint the influence of cerebrospinal fluid density values on the extent of spinal block with plain bupivacaine. The ancillary endpoints were search of factors explaining the interindividual differences in cerebrospinal fluid density values reported and determination of the relation between upper extent and regression of spinal anesthesia.

Methods: Sixty-four consecutive patients undergoing peripheral orthopedic surgery with spinal block were enrolled. Spinal anesthesia was performed in the lateral decubitus position with the operated side upward. Two milliliters of cerebrospinal fluid was sampled before injection of 3 ml plain bupivacaine 0.5%. The patient was immediately turned supine and remained in the horizontal position until the end of the study. Maximal sensory block level and time to sensory regression to L4 were determined for each patient enrolled. Cerebrospinal fluid and bupivacaine densities as well as cerebrospinal proteins, glucose, sodium, and chloride concentrations were measured.

Results: A highly significant correlation between cerebrospinal fluid density and maximal sensory block level was found (P = 0.0004). However, this correlation was poorly predictive (R2 = 0.37). Cerebrospinal fluid density, proteins, and glucose concentrations were significantly higher in men than in women: 1.000567 +/- 0.000091 versus 1.000501 +/- 0.000109 g/ml (P = 0.014), 0.46 +/- 0.18 versus 0.32 +/- 0.13 g/l (P = 0.001), and 3.27 +/- 0.7 versus 2.93 +/- 0.5 mm (P = 0.023), respectively. A highly significant (P = 0.0004) and predictive (R2 = 0.73) inverse correlation was found between maximal upper sensory extent and sensory regression to L4.     

Psychotherapie im Internet: Österreich

The paper presents a survey of internet users und suppliers of psychotherapy and counselling. The survey based on a search for relevant homepages was carried out as an online questionnaire. Psychotherapy as such is not on offer in the internet in Austria in compliance with the law, but information on psychotherapy practice, first contacts and short-term counsellling is provided mainly via e-mail. There are some significant differences between patients and psychotherapists who use the internet and those who do not. The demographic data of patients using the internet are similar to those of internet users generally. Psychotherapists providing services on the internet tend to be older and more experienced than the average psychotherapist in private practice.     

Level of consciousness as a conditioning factor of F wave generation in stroke patients.

OBJECTIVE: The current study aimed to investigate whether the level of consciousness influenced the F wave generation, as an independent factor. METHODS: Forty three patients with acute stroke were divided according to their level of consciousness in two groups; to those with Glasgow scale (GCS) score 3-7 indicating coma (group I) and those with GCS score 8-15 (group II). A series of 40 electrical stimuli were delivered to the ulnar nerve bilaterally in order to obtain F waves. The following variables were estimated and then compared between groups: F persistence, F wave latency, amplitude and duration. All studies were performed within 3 days from the onset of the stroke symptoms. RESULTS: The main finding to emerge was the significantly reduced F wave persistence in the group of patients with low GCS score as opposed to patients allocated in the group with GCS score 8-15. This result is referred to F waves obtained from both the affected and unaffected limb. F wave minimum latency was also prolonged in the group with low GCS score, whilst the comparison of all other F wave variables revealed no significant differences between groups I and II. F wave persistence measurements did not differ between the affected and unaffected sides. Stroke location and type (ischemic or hemorrhagic) were not associated with alterations of F wave measurements. CONCLUSIONS: Our results on stroke patients suggest that generation of F waves, expressed by the F wave persistence is associated with the level of consciousness. SIGNIFICANCE: F wave study may be useful as an objective measure in documenting the severity of consciousness impairment.     

Responses of tonically discharging neurons in the monkey striatum to primary rewards delivered during different behavioral states

In the primate striatum, the tonically discharging neurons respond to conditioned stimuli associated with reward. We investigated whether these neurons respond to the reward itself and how changes in the behavioral context in which the reward is delivered might influence their responsiveness. A total of 286 neurons in the caudate nucleus and putamen were studied in two awake macaque monkeys while liquid reward was delivered in three behavioral situations: (1) an instrumental task, in which reward was delivered upon execution of a visually triggered arm movement; (2) a classically conditioned task, in which reward was delivered 1 s after a visual signal; (3) a free reward situation, in which reward was delivered at irregular time intervals outside of any conditioning task. The monkeys′ uncertainty about the time at which reward will be delivered was assessed by monitoring their mouth movements. A larger proportion of neurons responsive to reward was observed in the free reward situation (86%) than in the classically conditioned (57%) and instrumental tasks (37%). Among the neurons tested in all situations (n = 78), 24% responded to reward regardless of the situation and 65% in only one or two situations. Responses selective for one particular situation occurred exclusively in the free reward situation. When the reward was delivered immediately after the visual signal in the classically conditioned task, most of the neurons reduced or completely lost their responses to reward, and other neurons remained responsive. Conversely, neuronal responses invariably persisted when reward was delivered later than 1 s after the visual signal. This is the first report that tonic striatal neurons might display responses directly to primary rewards. The neuronal responses were strongly influenced by the behavioral context in which the animals received the reward. An important factor appears to be the timing of reward. These neurons might therefore contribute to a general aspect of behavioral reactivity of the subject to relevant stimuli. Received: 16 September 1996 / Accepted: 1 April 1997     

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.

---

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.