Syndromic (phenotypic) diarrhea in early infancy

Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000–400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. Hairs are woolly, easily removed and poorly pigmented. Severe and persistent diarrhea starts within the first 6 months of life (≤ 1 month in most cases) and is accompanied by severe malabsorption leading to early and relentless protein energy malnutrition with failure to thrive. Liver disease affects about half of patients with extensive fibrosis or cirrhosis. There is currently no specific biochemical profile, though a functional T-cell immune deficiency with defective antibody production was reported. Microscopic analysis of the hair show twisted hair (pili torti), aniso- and poilkilotrichosis, and trichorrhexis nodosa. Histopathological analysis of small intestine biopsy shows non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria, and no specific histological abnormalities involving the epithelium. The etiology remains unknown. The frequent association of the disorder with parental consanguinity and/or affected siblings suggests a genetic origin with an autosomal recessive mode of transmission. Early management consists of total PN. Some infants have a rather milder phenotype with partial PN dependency or require only enteral feeding. Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature

Synthesising Corporate Responsibility on Organisational and Societal Levels of Analysis: An Integrative Perspective

This article develops an integrative perspective on corporate responsibility by synthesising competing perspectives on the responsibility of the corporation at the organisational and societal levels of analysis. We review three major corporate responsibility perspectives, which we refer to as economic, critical, and politico-ethical. We analyse the major potential uses and pitfalls of the perspectives, and integrate the debate on these two levels. Our synthesis concludes that when a society has a robust division of moral labour in place, the responsibility of a corporation may be economic (as suggested under the economic perspective) without jeopardising democracy and sustainability (as reported under the critical perspective). Moreover, the economic role of corporations neither signifies the absence of deliberative democratic mechanisms nor business practices extending beyond compliance (as called for under the politico-ethical perspective). The study underscores the value of integrating different perspectives and multiple levels of analysis to present comprehensive descriptions and prescriptions of the responsibility phenomenon

Age-Related Neuronal Degeneration: Complementary Roles of Nucleotide Excision Repair and Transcription-Coupled Repair in Preventing Neuropathology

Neuronal degeneration is a hallmark of many DNA repair syndromes. Yet, how DNA damage causes neuronal degeneration and whether defects in different repair systems affect the brain differently is largely unknown. Here, we performed a systematic detailed analysis of neurodegenerative changes in mouse models deficient in nucleotide excision repair (NER) and transcription-coupled repair (TCR), two partially overlapping DNA repair systems that remove helix-distorting and transcription-blocking lesions, respectively, and that are associated with the UV-sensitive syndromes xeroderma pigmentosum (XP) and Cockayne syndrome (CS). TCR–deficient Csa−/− and Csb−/− CS mice showed activated microglia cells surrounding oligodendrocytes in regions with myelinated axons throughout the nervous system. This white matter microglia activation was not observed in NER–deficient Xpa−/− and Xpc−/− XP mice, but also occurred in XpdXPCS mice carrying a point mutation (G602D) in the Xpd gene that is associated with a combined XPCS disorder and causes a partial NER and TCR defect. The white matter abnormalities in TCR–deficient mice are compatible with focal dysmyelination in CS patients. Both TCR–deficient and NER–deficient mice showed no evidence for neuronal degeneration apart from p53 activation in sporadic (Csa−/−, Csb−/−) or highly sporadic (Xpa−/−, Xpc−/−) neurons and astrocytes. To examine to what extent overlap occurs between both repair systems, we generated TCR–deficient mice with selective inactivation of NER in postnatal neurons. These mice develop dramatic age-related cumulative neuronal loss indicating DNA damage substrate overlap and synergism between TCR and NER pathways in neurons, and they uncover the occurrence of spontaneous DNA injury that may trigger neuronal degeneration. We propose that, while Csa−/− and Csb−/− TCR–deficient mice represent powerful animal models to study the mechanisms underlying myelin abnormalities in CS, neuron-specific inactivation of NER in TCR–deficient mice represents a valuable model for the role of NER in neuronal maintenance and survival

CMS physics technical design report : Addendum on high density QCD with heavy ions

Peer reviewe

EEG changes induced by carbamazepine therapy at rest and during mental processes

The effects of carbamazepine (CBZ) on EEG background activity have been studied, at rest and during mental processes, in 18 epileptic patients suffering from focal epilepsy and starting antiepileptic treatment for the first time. The EEGs were recorded before and after CBZ therapy, at rest with eyes closed (EC), during blocking reaction (BR), fixation (FIX) and mental arithmetic (MA) tasks, and then evaluated by spectral analysis. All data underwent statistical evaluation utilizing the ANOVA and correlation coefficient. The following parameters were evaluated: mean absolute and relative power and mean frequency. The results have shown that CBZ induced a significant increase of slow activity at rest with EC, which was represented by delta potentials, and was correlated with CBZ plasma levels. In evaluating the different cortical activation patterns, a decrease of the alpha reactivity was noted during BR and FIX, while a significant increase of beta activity was observed during the performance of all tasks. The relationship between the increased beta power, possibly reflecting an increase of cognitive activity for processing information, and the lack of a significant decrease of alpha activity are discussed

Utilità delle indagini angiografiche nelle complicanze vascolari del trapianto di fegato.

The authors report their experience with angiographic techniques in the diagnosis of vascular complications after liver transplantation. From 1986 to 1990, 78 patients were transplanted in our Hospital; of them, 8 underwent angiographic investigations for vascular complications. Angiography is very important when vascular complications are suspected, in the patients with a rise in cytolytic enzymes and in bilirubine levels, with hyperpyrexia, and with bioptic confirmation of no rejection. Duplex US is useful in the evaluation of portal canalization; if there are any doubts, angiography is performed also in the preoperative phase

Lateralization of the epileptogenic focus by computerized EEG study and neuropsychological evaluation

The localization of the epileptogenic focus relies on different factors. In patients with partial seizures, asymmetries in EEG background activity were measured by a statistical evaluation of spectral data. Neurophysiological results were compared with neuropsychological findings and MRI. Fifteen of 22 patients showed asymmetries in EEG background activity. The most prominent abnormality was a statistically significant increase of slow activity observed in 59% of cases. Delta asymmetry coincided with the site of lesions, evidenced by MRI, in 83% of patients; with the site of decreased beta activity in 60% and with the maximum level of spiking activity in 58% of cases. Neuropsychological tests showed a lateralization of the hemispheric function which coincided with delta asymmetry in 33% of patients. These results suggest that the EEG background activity, when compared with other parameters, may represent a useful method in lateralizing the epileptogenic focus

Effect of carbamazepine on EEG background activity and on interictal epileptiform abnormalities in focal epilepsy

The effect of carbamazepine (CBZ) on EEG background activity and on interictal epileptiform abnormalities (IEA) was studied in 15 patients with focal epilepsy who started antiepileptic drug treatment (AED) for the first time. A computerized EEG study, performed before and two months after starting therapy, utilized spectral analysis and automatic recognition of IEA. The occurrence of seizures was considered in order to clarify the relationship between IEA and the seizures themselves. Statistical evaluation of EEG spectral values was calculated through analysis of variance (ANOVA), while for IEA the non parametric Wilcoxon test was utilized. In 13 patients who remained seizure-free during the two month-period of observation, IEA was unchanged or decreased. In one of the two patients who continued to have seizures, IEA significantly increased. During therapy, the background activity presented significant increase of slow activity in approximately half the patients. This increase was more evident in those patients showing active epileptic foci before treatment, rather than in those with rare or no spikes. The changes in IEA seem to be related to the occurrence of seizures rather than to a direct action of CBZ on spikes