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In the year 2000, reports were written on the implementation of co-ordination regulations in each of the Member States. These reports present interesting new information on how the regulations work and on implementation problems that were encountered. In this paper an overview of the main findings is given and some recommendations that might improve the co-ordination process are made.

Large expansions of the CGG repeat in the 5' untranslated region of the FMR1 gene are found in patients with the fragile X syndrome. Amplified CGG repeats in FMR1 are unstable and show intergenerational increase from mother to offspring. The exact timing of repeat amplification, however, is unknown. We have compared the extent of CGG expansion in various tissues of this deceased fragile X patient, and found only limited variation in repeat expansion. The repeat was fully methylated in all tissues examined. Therefore, no evidence for extensive mitotic expansion of the CGG repeat during fetal or postnatal life of a fragile X patient was found, in contrast to dynamic mutations caused by CAG/CTG repeat expansion. Extensive pathological examination of this patient and his affected brother revealed no evidence for specific abnormalities relevant to fragile X syndrome; cerebellar hypoplasia, which has been reported in this disorder, was not evident in either patient. Am. J. Med. Genet. 84:245–249, 1999. © 1999 Wiley-Liss, Inc.

1Changes in arterial oxygen tension after gastric lavage were investigated in a prospective study of 55 patients admitted for drug overdose.2A significantly greater decrease was observed in smokers compared to non-smokers.3A correlation was found between the tricyclic antidepressant serum level and the observed oxygen tension decrease.4The usefulness, as well as the safety of the lavage procedure, in managing tricyclic antidepressants overdoses is controversial.

The effect distracting objects have on visual-search performance in real-life situations cannot readily be predicted from current search theories. The validity of an approach to close this gap was tested by comparing search performance for color slides of scenes in public buildings with performance for simplified computer-generated images derived from these slides. The target was always a blue rectangle in both the original slides of scenes and the computer simulations. The distractors were differently colored rectangles (not blue), and their number was varied systematically. Analysis showed a significant linear increase in search time with number of distractors, which challenges predictions of current search theories. An explanation for this contradiction is proposed. Also, search times for color slides were significantly longer than those for computer images; however, there was no significant interaction between type of stimulus and number of distractors. It is concluded that the simulated scenes yielded adequate predictions of the effect of distracting objects on search performance in real-life situations.

THE immune system plays a central role before and during parturition, including the main physiological processes of parturition: uterine contractions and cervical ripening. The immune system comprises white blood cells and their secretions. Polymorphonuclear cells and macrophages invade the cervical tissue and release compounds, such as oxygen radicals and enzymes, which break down the cervical matrix to allow softening and dilatation. During this inflammatory process, white blood cells undergo chemotaxis, adherence to endothelial cells, diapedesis, migration and activation. Factors that regulate white blood cell invasion and secretion include cytokines such as tumour necrosis factor and interleukins. Glucocorticoids, sex hormones and prostaglandins, affect cytokine synthesis. They also modulate the target cells, resulting in altered responses to cytokines. On the other hand, the immune system has profound effects on the hormonal system and prostaglandin synthesis. In animals, nitric oxide has marked effects on uterine quiescence during gestation. At the same time, it plays an important role in regulating the vascular tone of uterine arteries and has anti-adhesive effects on leukocytes. Cytokines are found in amniotic fluid, and in maternal and foetal serum at term and preterm. Several intrauterine cells have been shown to produce these cytoldnes. Since neither white blood cells, cytokines nor nitric oxide seem to be the ultimate intermediate for human parturition, the immune system is an additional but obligatory and underestimated component in the physiology of delivery. Scientists, obstetricians and anaesthesiologists must thus be aware of these processes.

Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)nrepeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR–1) located in Xq27.3. Anticipation in this syndrome is associated with progressive amplification of the (CGG)nrepeat from a premutation to a full mutation through consecutive generations. Remarkably, expansion of the premutation to the full mutation is strictly maternal. To clarify this parental influence we studied FMR–1 in sperm of four male fragile X patients. This showed that only the premutation was present in their sperm, although they had a full mutation in peripheral lymphocytes. This might suggest that expansion of the premutation to the full mutation in FMR–1 does not occur in meiosis but in a postzygotic stage.

To compare the hemodynamic effects, pharmacokinetic profiles, and the need for vasoactive agents between a low (20 μg/kg during 15 minutes [group 1; n= 10]) and a high (40 μg/kg during 15 minutes [group 2; n= 10]) loading dose of milrinone.

Pentachlorophenol (PCP) was, and still is, one of the most frequently used fungicides and pesticides, Its toxicity is due to interference with oxidative phosphorylation. Acute and chronic poisoning may occur by dermal absorption, inhalation or ingestion. Chronic poisoning occurs mainly in sawmill workers or people living in log homes treated with PCPcontaining wood protecting formulations. Quantitative determination of PCP in urine and serum is useful to detect occupational or subclinical exposure.The clinical features of acute and chronic PCP poisoning can be classified systematically into effects on the skin, metabolism (fever), the haematopoietic tissue, the respiratory system, the central and peripheral nervous system, the kidney and the gastrointestinal tract.Although PCP is not classified as a human carcinogen, some epidemiological observations suggest that exposure to chlorophenols in general and PCP solutions in particular may result in an increased risk for certain malignant disorders such as nasal carcinoma and soft tissue sarcoma. There is concern that contamination of PCP-solutions with products such as chlorodibenzo-p-dioxins is the real cause of this suspected carcinogenicity.No specific antidote exists for the treatment of (acute) PCP poisoning. The basis of the treatment of acute poisoning is intensive supportive care with prevention of dangerous rise in temperature. Use of PCP-based products as indoor wood preservatives poses an unacceptable risk to human health.

Although elevated concentrations of a few cytokines have been shown to be present in the bronchoalveolar lavage (BAL) fluid (BALF) of patients with the acute (adult) respiratory distress syndrome (ARDS), the pathogenesis of ARDS is largely unknown. Leukaemia inhibitory factor (LIF), a growth factor recently recognised as a polyfunctional cytokine integrated in cytokine networks was measured in unconcentrated BALF of patients from different patient groups.LIF was measured in BALF by means of a specific and sensitive ELISA (detection limit 10 pg/ml) in BALF (lavage of 3 x 50 ml in the right middle lobe).LIF was not detected in the BALF of 13 healthy control patients and in only one (34 pg/ml) out of 25 patients at risk for ARDS (after cardiopulmonary bypass surgery) who underwent BAL 4 h after the end of the extracorporeal circulation. High and detectable levels were found in the unconcentrated BALF of 10 out of 12 patients with full-blown ARDS (212 ± 116, mean ± SEM, range 10–985 pg/ml). There was a good correlation between the level of LIF in the BALF and a number of markers of inflammation such as neutrophils/ml, albumin and protein levels.The biological role of LIF in these BALFs is not readily explained by its currently known actions and it is unknown whether LIF contributes to or is a response to local tissue damage. Our results indicate that this cytokine is part of the inflammatory cytokine cascade in ARDS.

Cardiogenic shock during a pheochromocytoma crisis is a life-threatening disorder. This case report illustrates a 49-year-old male with profound cardiogenic shock, extreme hemodynamic instability (systolic blood pressure ranging from 45 up to 290 mmHg in a cyclic pattern), and progressive multiple organ failure in the presence of a unilateral adrenal mass. Emergency adrenalectomy led to rapid hemodynamic stabilization. Histological investigation confirmed the diagnosis of pheochromocytoma. This case indicates that emergency adrenalectomy, although usually not considered first choice, is a valid option in cardiogenic shock and extremely fluctuating hemodynamics due to a pheochromcytoma-induced catecholamine storm.

Invasive infection with Lancefield group C streptococci in humans is extremely rare, with the vast majority of clinical isolates belonging to Streptococcus dysgalactiae subsp. equisimilis. We report a case of meningoencephalitis in a 69-year-old man caused by Streptococcus equi subsp. equi, a microbe that causes strangles in Equus caballus (i.e., the horse). This is only the fourth infection with this subtype of the central nervous system (CNS) reported in humans. The invasiveness of these bacteria, known to be capable of releasing strongly immunogenic exotoxins, is illustrated by white matter lesions that are present in the acute phase. This patient initially recovered well after treatment with antibiotics and glucocorticoids. However, the patient was readmitted 5 months later with multiple intraparenchymatous cerebral haemorrhages. Cerebral angiography confirmed the presence of a suspected superficial dural arteriovenous fistula (DAVF), which is seldom reported after CNS infection. The invasiveness of these bacteria was illustrated by white matter lesions present in the acute phase and the occurrence of a de novo dural arteriovenous fistula in the follow-up period.

We aimed to provide an extended analysis of the physiological handling of of the sodium burden induced by maintenance fluids.

The phytochemical profile and positive health effects of the fruits and by-products of domesticated Malus domesticaBorkh. apple cultivars have been extensively investigated. The present study was designed to evaluate the hydrophilic composition and antioxidant activity of the compounds recovered from wild apple Malusspp. by-products. The phytochemical analysis of the 30 and 96% ethanolic extracts using LC-DAD-ESI-MS/MS has led to the detection and isolation of 25 hydrophilic compounds. Amongst the polyphenols, chlorogenic acid, B-type procyanidins, and phloretin-2-glucoside dominated. The results of HPLC-DPPH•radical scavenging showed that the major contributors to the antioxidant activity of wild apple by-products were found to be cyanidin-glucoside, luteolin-glucoside, and B-type (−)-epicatechin, which showed the lowest EC50values of 0.65, 0.70, and 0.80, respectively. The abundance of vitamin C, including ascorbic and dehydroascorbic acids was confirmed using UHPLC-QqQ-MS/MS technique. The results showed that the wild apple by-products have the potential to be used in the production of natural antioxidants. Using a common solid-liquid extraction technique, 100 kg of press cake yielded 200 g of procyanidins, 100 g of chlorogenic acid, 87 g of phloridzin and 60 g of vitamin C, compounds that could potentially be used for the production of lipid oxidation inhibitors and agents with antimicrobial activities as medicines and food additives.

Dilutional hyponatremia, although not uncommon, is an underestimated problem in the pediatric population. In most cases, it results from excessive hydration or water retention, also described as the so-called water intoxication.

We report a patient in whom presumed vasospasm of an angiographically normal coronary artery led to severe transmurai myocardial ischemia. To our knowledge, this is the first case in which an allergic reaction to locally applied chlorhexidine caused such a severe reaction.

A patient was referred to our hospital with a superior vena cava syndrome after the rupture of a bronchial artery aneurysm. To our knowledge, this complication has not been reported before. An urgent thoracotomy was performed after embolization had failed.

We present the case of a 68-year-old man with a peculiar coincidence of cardiac pathologic findings: a huge left atrial myxoma, mitral insufficiency, a high degree atrioventricular block and three-vessel disease. The myxoma was vascularized from a dilated sinus arteriosus branch, giving rise to neovascularization at the base of the tumor. Blood from the neovascularization gathered into a large cavern which fistulated into the left atrium, responsible for a left-to-left cardiac shunt.

Amitraz, 1,5 di-(2,4-dimethylphenyl)-3-methyl-1,3,5-tria za-penta-1,4-diene, a formamidine pesticide, is used worldwide. It causes side-effects in animals that resemble those caused by pureα2-adrenergic agonist drugs such asclonidine. Data on poisonings in humans are scanty. We report on a case of human poisoning with amitraz with typical signs of α2-adrenoreceptor stimulation.

We present a case of a 3-year-old boy with neurodegeneration. Family history reveals Rendu-Osler-Weber disease. Magnetic resonance imaging (MRI) of the spinal cord and spinal angiography showed a spinal arteriovenous fistula with venous aneurysm, causing compression of the lumbar spinal cord. Embolisation of the fistula was executed, resulting in clinical improvement. A week after discharge he was readmitted with neurologic regression. A second MRI scan revealed an intraspinal epidural haematoma and increase in size of the aneurysm with several new arterial feeders leading to it. Coiling of the aneurysm and fistulas was performed. Postoperative, the spinal oedema increased despite corticoids, causing more extensive paraplegia of the lower limbs and a deterioration of his mental state. A laminectomy was performed and the aneurysm was surgically removed. Subsequently, the boy recovered gradually. A new MRI scan after two months showed less oedema and a split, partly affected spinal chord. This case shows the importance of excluding possible arteriovenous malformations in a child presenting with progressive neurodegeneration. In particular when there is a family history for Rendu-Osler-Weber disease, scans should be performed instantly to rule out this possibility. The case also highlights the possibility of good recovery of paraplegia in paediatric Rendu-Osler-Weber patients.