Clinical impact of CCM mutation detection in familial cavernous angioma

Introduction and background A 3-year-old Bosnian girl with a large symptomatic brainstem and multiple supratentorial cavernous angiomas, who underwent neurosurgical treatment, is presented. As multiple cavernomas are more common in familial cases, genetic analyses and neuroradiological imaging were performed in the patient and her parents to see whether there was any evidence for inheritance. This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases.Results Genetic analyses demonstrated a novel CCM1 frameshift mutation (c.1683_1684insA; p.V562SfsX6) in the child and the asymptomatic 27-year-old mother. Sensitive gradient-echo magnetic resonance imaging of the mother revealed multiple supratentorial lesions, whereas analogous imaging of the father showed no pathological findings.Conclusion This case exemplifies that seemingly sporadic cases with multiple lesions might well be hereditary and that presymptomatic genetic testing of family members may identify relatives for whom clinical and neuroradiological monitoring is indicated.     

Addition von Nucleophilen an 5-Desazaflavine,Teil 1

Addition of Nucleophiles to 5-Deazaflavins, Part 1 The reactivity of 5-deazaflavins and 5-deazaflaviniumsalts againts nucleophiles such as hydride-, dithionite-, sulfite- and cyanide ions as well as carbanions is described. The addition takes place in the 5-position and is in much cases reversible with acid. The title-compounds behave, as shown in photoreactions⁵), as “flavin-shaped nicotinamide models”. Side reactions and reoxidation of the adducts are discussed.     

A model for sustainable short-term international medical trips.

The health status of many people in developing countries is often dismal compared with the norms in industrialized countries. Increasingly, medical practitioners in the United States and other industrialized countries have become interested in global health issues, an interest that often takes the form of short-term international medical trips. We discuss several ethical issues associated with participation in such trips and use our experiences in developing the Children's Health International Medical Project of Seattle (CHIMPS) to outline and illustrate a set of 7 guiding principles for making these trips. CHIMPS is a resident-run, faculty-supported international medical program founded in 2002 by pediatric residents at the University of Washington in Seattle. Members of CHIMPS work with a rural community in El Salvador to support ongoing public health interventions there and provide sustainable medical care in collaboration with the community and a local nongovernmental organization. The 7 principles developed as a result of this work-mission, collaboration, education, service, teamwork, sustainability, and evaluation-can be used as a model for health practitioners as they develop or select international medical trips. The importance of partnering with the community and working within the existing medical and public health infrastructure is emphasized. Many of the challenges of doing international medical work can be overcome when efforts are guided by a few specific principles, such as those we have outlined.     

Tonic pupil,areflexia, and segmental anhidrosis: two additional cases of Ross syndrome and review of the literature

Summary Two patients are described with the triad of tonic pupil, hyporeflexia and segmental anhidrosis (Ross syndrome). Only 18 cases of this syndrome have been reported in the literature so far. While tonic pupil and reduced sweating can be attributed to the affection of postganglionic cholinergic parasympathetic and sympathetic fibres projecting to the iris and sweat glands, respectively, the pathogenesis of diminished or lost tendon jerks remains obscure. To identify the characteristic clinical features, the previous cases of Ross syndrome are reviewed. Recent evidence of subclinical disturbances of sweating in most patients with Adie's syndrome, i.e. tonic pupil and areflexia, casts doubt on the nosological concept of Ross syndrome as a distinct clinical entity.     

Surgical Management of PICA Aneurysm and Incidental Facial Nerve Schwannoma: Case Report.

We report a patient with a posterior inferior cerebellar artery (PICA) aneurysm and an incidental facial nerve schwannoma at the cerebellopontine angle (CPA). A 46-year-old woman presented with the sudden onset of a severe headache, nausea, and vomiting. She had no other abnormal neurological symptoms and signs. Computed tomography (CT) showed hemorrhage in the fourth ventricle. Cerebral angiography demonstrated an aneurysm arising from the tonsillomedullary segment of the left PICA. A facial nerve schwannoma was incidentally found as the aneurysm was being clipped. The aneurysm was clipped via a left transcondylar approach. Subsequently, the schwannoma (2 x 3 x 2 mm) was resected from the facial nerve fascicles, and the facial nerve was preserved. Postoperatively, the patient developed mild to moderate dysfunction of the facial nerve (House-Brackmann grade III [H-B III]) but her hearing was intact. Both a facial nerve schwannoma involving the CPA and an aneurysm involving the PICA can be managed through the transcondylar approach. An asymptomatic facial nerve schwannoma can be resected safely with minimal facial nerve dysfunction.     

First preliminary results of an observation of Ginkgo Biloba treating patients with autistic disorder

Deficits in reciprocal social interaction, verbal and nonverbal communication, and imaginative activity are the main characteristics of autism. From the psychopharmacological point of view, clonidine, metylphenidate and neuroleptics may improve some of these aspects, but with a remarkable risk of adverse side effects. In our observational study, three patients received 2 × 100 mg Ginkgo Biloba EGb 761 for 4 weeks and showed some improvement on the Aberrant Behavior and Symptom Checklist. These results suggest, that Ginkgo Biloba might be effective at least as an add‐on therapy. Copyright © 2009 John Wiley & Sons, Ltd.     

Confusion about measuring central nervous system effects

Anticholinergic therapy together with behavioral treatment are the mainstays of treatment for the overactive bladder. Successful therapy and patient compliance depend very much on side effects. In the past, little attention has been paid to anticholinergic side effects in the central nervous system (CNS), which can be critical, especially for elderly patients. Incidence and intensity of CNS effects depend on the pharmacokinetic and pharmacodynamic properties that are decisive whether anticholinergics pass the blood-brain barrier as a result of passive and active transport mechanisms. To measure potential CNS side effects of anticholinergic drugs, rapid eye movement sleep analysis, quantitative-topographic electroencephalogram studies, and psychometric tests were performed. Structural changes in brain morphology (resulting from anticholinergics) also were analyzed in a postmortem study. However, the data of these studies do not always correlate with clinical experience. The results of clinical studies in elderly patients are also controversial mainly due to the different design of the studies. Spontaneous reporting may not be appropriate, but targeted tests for memory and cognitive function should be applied. Moreover, the treatment period must be adequate. Therefore, further clinical studies in patients with overactive bladder are mandatory, with adequate study design and adequate duration of anticholinergic therapy.