Bilateral naevus of Ota: a rare manifestation in a Caucasian

The naevus of Ota (naevus fusculocoeruleus ophthalmomaxillaris) was first described by the Japanese dermatologist M. T. Ota in 1939. It has a reported incidence of 0.2% to 1% in the Japanese population. It usually occurs in the skin innervated by the first or second branch of the trigeminal nerve. The naevus comprises dermal melanocytes and is congenital or acquired during adolescence. Commonly associated lesions include scleral melanocytosis and other ocular manifestations as well as lesions of the tympanic membrane, oral and intranasal mucosa and leptomeninges. Diseases associated with Ota's naevus in rare cases are open-angle glaucomas and melanoma. The naevus of Ota in Europeans is a rare manifestation. We report the very rare case of a bilateral naevus of Ota associated with enoral melanocytosis in a white European person.     

Increased primary success rate in coronary angioplasty using a guide wire with attached balloon (microprobe)

In 15 cases of 350 consecutive coronary angioplasties conventional low profile balloon catheters did not traverse the stenosis or occlusion over the guide-wire. A balloon on a wire device ("Microprobe", 2 mm) passed the stenosis or occlusion easily with a good primary result in 14 cases. The angioplasty procedure could then be completed with a larger standard balloon catheter. Use of the balloon on a wire device expands the technical facilities of angioplasty and increases the primary success rate in technically difficult cases.     

ANF-Konzentrationen und Drücke im kleinen Kreislauf unter Belastung vor und nach Koronardilatation

Summary According to several reports of close correlations between pulmonary artery pressure and ANF plasma levels it would be convenient to replace invasive pressure monitoring by ANF determination.Mean pulmonary artery and right atrial pressures and pulmonary artery as well as peripheral venous ANF plasma concentrations were measured in 24 patients before and after coronary angioplasty (PTCA) continuously at rest and during exercise: At rest, both pressure and ANF-values remained unchanged before and after PTCA. At exercise, there was a decrease of mean pulmonary artery pressure (from 41.3±8.6 to 31.5±7.4 mmHg,p<0.001), mean right atrial pressure (from 11.9±3.0 to 9.0±2.3 mmHg,p< 0.001), pulmonary artery (282.5±191.0 to 207.3±157.2 pg/ml,p<0.05) and peripheral venous (112.7±48.0 to 97.1±53.2 pg/ml, n.s.) ANF concentration after PTCA. We found no correlation between PTCA-induced changes of right arterial pressures and ANF concentrations, while changes of pulmonary artery pressures were significantly correlated to changes of peripheral venous (r=0.79,p<0.001) as well as pulmonary artery (r=0.59,p<0.01) ANF concentrations at exercise. In 6 of the 24 patients, however there was an inverse relationship between changes of pulmonary artery pressures and ANF concentrations. — Our data demonstrate a significant correlation between changes of ANF plasma level and pulmonary artery pressure values at exercise after PTCA. In the individual case however invasive pressure monitoring cannot be replaced by determination of ANF plasma levels.

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Abkürzungsverzeichnis ANF Atrialer natriuretischer Faktor - PTCA Perkutane transluminale Koronarangioplastie - PPa mittlerer pulmonalarterieller Druck - PPc mittlerer pulmonalcapillärer Druck - PRA mittlerer rechtsatrialer Druck Herrn Prof. Dr. med F. Scheler zum 65. Geburtstag gewidmet     

EAACI guidelines on allergen immunotherapy: Prevention of allergy

Allergic diseases are common and frequently coexist. Allergen immunotherapy (AIT) is a disease‐modifying treatment for IgE‐mediated allergic disease with effects beyond cessation of AIT that may include important preventive effects. The European Academy of Allergy and Clinical Immunology (EAACI) has developed a clinical practice guideline to provide evidence‐based recommendations for AIT for the prevention of (i) development of allergic comorbidities in those with established allergic diseases, (ii) development of first allergic condition, and (iii) allergic sensitization. This guideline has been developed using the Appraisal of Guidelines for Research & Evaluation (AGREE II) framework, which involved a multidisciplinary expert working group, a systematic review of the underpinning evidence, and external peer‐review of draft recommendations. Our key recommendation is that a 3‐year course of subcutaneous or sublingual AIT can be recommended for children and adolescents with moderate‐to‐severe allergic rhinitis (AR) triggered by grass/birch pollen allergy to prevent asthma for up to 2 years post‐AIT in addition to its sustained effect on AR symptoms and medication. Some trial data even suggest a preventive effect on asthma symptoms and medication more than 2 years post‐AIT. We need more evidence concerning AIT for prevention in individuals with AR triggered by house dust mites or other allergens and for the prevention of allergic sensitization, the first allergic disease, or for the prevention of allergic comorbidities in those with other allergic conditions. Evidence for the preventive potential of AIT as disease‐modifying treatment exists but there is an urgent need for more high‐quality clinical trials.     

Embolic protection devices for carotid artery stenting: better results than stenting without protection?

AIMS: Carotid artery stenting (CAS) for carotid artery stenoses has become an alternative to carotid endarterectomy. However, CAS itself can cause cerebral ischaemic events. Embolic protection devices (PD) promise to reduce the incidence of these events. METHODS AND RESULTS: From July 1996 to March 2003, 1483 patients from 26 hospitals were included in the prospective CAS Registry of the ALKK study group. A PD was used in 668 of 1483 patients (45%). The use of a PD has grown rapidly over the years and reached 100% in 2003. Patients treated with a PD had prior carotid artery dilatation more often (3.5% versus 1%, p < 0.001), a prior myocardial infarction (34% versus 27.4%, p = 0.007) and a history of arterial hypertension (89.9% versus 78.6%, p = 0.007) compared to patients treated without a PD. A thrombus was more often visible in patients treated under distal protection (16.5% versus 8%, p < 0.001). The use of a PD led to a 10-min longer intervention (45 min versus 35 min median, p < 0.001). Patients treated with a PD had a lower rate of ipsilateral stroke (1.7% versus 4.1%, p = 0.007) and a lower rate of all non-fatal strokes and all deaths (2.1% versus 4.9%, p = 0.004) during the hospital stay. This was confirmed by multiple logistic regression analysis (adjusted OR = 0.45, 95% CI: 0.23-0.91, p = 0.026). A similar reduction could be found for symptomatic as well as asymptomatic carotid artery stenoses. CONCLUSION: Since 1996 there has been a steady increase in the use of PDs for CAS, with a 100% use in 2003. The use of a PD may lower the rate of ipsilateral strokes during CAS.     

Ventricular and myocardial function in mitral regurgitation (author's transl)]

Left ventricular and myocardial performance were analyzed in 9 patients with chronic volume overload by mitral regurgitation from biplane cineventriculograms, simultaneous pressure recordings and cardiac output (thermodilution method) determinations. In spite of a considerable regurgitant fraction (49 +/- 17% of total stroke volume) cardiac index on the average is normal (CI = 3.3 +/- 0.7 l . min-1). The main compensatory mechanism to maintain cardiac ouput in hypertorphy (WED = 1.1 +/- 0.2 cm; LVMI = 216 +/- 62 g . m-2; LVMI/EDVI = 1.3 +/- 0.3 g . ml-1) and dilatation (EDVI = 163 +/- 37 ml . m-2). An increase of preload is of minor importance (PLVED = 15 +/- 7 mmHg; sigma ED = (40 +/- 19) x 10(3) dyn . cm-2). Left ventricular enlargement and wall mass are related to the degree of clinical heart failure (NYHA). Enddiastolic volume on the average is more increased than total stroke volume (89 +/- 31 ml . m-2). Ejection fraction (EF = 54 +/- 7%) was depressed despite a normal afterload (sigma tej = (171 +/- 37 x 10(3) dyn. cm-2; sigma max = (247 +/- 48 x 10(3) dyn . cm-2). The reduced ejection fraction and diminished myocardial power are related to an impairment of myocardial function (VMW . sigma tej = (83 +/- 39) x 10(3) dyn . cm-2 . s-1; VMW . sigma tej/ln sigma ED = 7.9 +/- 3.6 x 10(3) dyn . cm-2 . s-1). In comparable degrees of heart failure myocardial function is more compromised in patients with mitral than with aortic regurgitation.     

Gastric perception thresholds are low and sensory neuropeptide levels high in helicobacter pylori-positive functional dyspepsia

BACKGROUND AND AIMS: In functional dyspepsia (FD) decreased perception levels can be shown on gastric distension. Substance P (SP) and calcitonin gene-related peptide (CGRP) are involved in the sensitization of afferent neuronal pathways due to chronic inflammation. The role of Helicobacter pylori-induced gastric mucosal inflammation in the pathogenesis of FD is controversial. The aim of this study was to assess whether FD patients have altered mucosal concentrations of CGRP and SP, and to investigate whether this is associated with visceral hypersensitivity or H. pylori infection. METHODS: Gastrointestinal symptoms, H. pylori status, perception thresholds at gastric balloon distension, and gastric mucosal concentrations of CGRP and SP were determined in 13 FD patients and 18 healthy controls (HC). RESULTS: In H. pylori-positive FD patients discomfort and pain thresholds on gastric distension were lower compared to other groups. Antral mucosal levels of CGRP and SP were higher in H. pylori-positive subjects. In FD significantly negative correlations between discomfort and pain thresholds and antral mucosal concentrations of CGRP and SP were observed. CONCLUSIONS: In FD low perception thresholds on gastric distension are associated with high levels of CGRP and SP in the antrum, suggesting that sensory neuropeptides are involved in FD pathophysiology.     

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next‐generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole‐exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. In silico modeling suggested a requirement of p.Arg106 for the formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. Knockdown of Poc1b in zebrafish caused cystic kidneys and retinal degeneration with shortened and reduced photoreceptor connecting cilia, compatible with the human syndromic ciliopathy. A recent study describes homozygosity for p.Arg106Pro_POC1B in a family with nonsyndromic cone‐rod dystrophy. The phenotype associated with homozygous p.Arg106Pro_POC1B may thus be highly variable, analogous to homozygous p.Leu710Ser in WDR19 causing either isolated retinitis pigmentosa or Jeune syndrome. Our study indicates that POC1B is required for retinal integrity, and we propose POC1B mutations as a probable cause for JBTS with severe PKD.     

Coronary arterial embolism due to valvular debris after percutaneous valvuloplasty of calcific mitral stenosis

A 74-year-old woman with refractory congestive heart failure due to long-standing calcific mitral stenosis who refused surgical intervention was treated with percutaneous balloon valvuloplasty. After an uneventful procedure, hemodynamic results were satisfactory with an increase in the mitral valve area from 0.4 to 1.1 cm2. Five hours after the procedure, the patient had a bout of vomiting followed by pulmonary aspiration. Electrocardiography, and in the further course, creatine kinase MB elevation, showed anterior myocardial infarction. Necropsy disclosed embolic material in the mid left anterior descending artery which unequivocally consisted of valvular material. This case demonstrates embolism of valvular debris as a life-threatening, procedure-related complication of percutaneous valvuloplasty of calcific mitral stenosis.