Cerebellar degeneration and hearing loss in a patient with idiopathic myenteric ganglionitis

A 35-year-old male with an 11-year history of intestinal pseudo-obstruction associated with an idiopathic inflammatory insult of the myenteric plexus and the presence of circulating anti-Hu antibodies developed a neurological syndrome characterized by bilateral hearing loss, deteriorating balance, an unsteady gait and difficulty in estimating distances. A similar neurological syndrome has previously been described in older patients among the paraneoplasic syndromes associated with small-cell lung carcinoma and the presence of circulating anti-Hu antibodies, but never in the rare cancer-free patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction. The patient underwent a steroid treatment. No further episodes of functional intestinal obstruction were observed and, after an initial improvement, the neurological symptoms stabilized, leaving a permanent reduction in hearing function and an unsteady gait. The case shows that an idiopathic inflammatory insult of the myenteric plexus may precede (and perhaps lead to) central nervous system impairment in patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction.     

Organization of the gene for human platelet/endothelial cell adhesion molecule-1 shows alternatively spliced isoforms and a functionally complex cytoplasmic domain

Platelet endothelial cell adhesion molecule-1 (PECAM-1) is a cell-cell adhesion molecule that is expressed on circulating platelets, on leukocytes, and at the intercellular junctions of vascular endothelial cells and mediates the interactions of these cells during the process of transendothelial cell migration. The cDNA for PECAM-1 encodes an open reading frame of 738 amino acids (aa) that is organized into a 27- aa signal peptide, a 574-aa extracellular domain composed of 6 Ig homology units, and a relatively long cytoplasmic tail of 118 aa containing multiple sites for posttranslational modification and postreceptor signal transduction. To provide a molecular basis for the precise evaluation of the structure and function of this transmembrane glycoprotein, we have determined the organization of the human PECAM-1 gene. The PECAM-1 gene, which has been localized to human chromosome 17, is a single-copy gene of approximately 65 kb in length and is broken into 16 exons by introns ranging in size from 86 to greater than 12,000 bp in length. Typical of other members of the Ig superfamily, each of the extracellular Ig homology domains is encoded by a separate exon, consistent with PECAM-1 having arisen by gene duplication and exon shuffling of ancestral Ig superfamily genes. However, the cytoplasmic domain was found to be surprisingly complex, being encoded by seven short exons that may represent discrete functional entities. Alternative splicing of the cytoplasmic tail appears to generate multiple PECAM-1 isoforms that may regulate phosphorylation, cytoskeletal association, and affinity modulation of the mature protein. Finally, a processed pseudogene having 76% identity with PECAM- 1 cDNA was identified and localized to human chromosome 3. These findings should have important implications for structure/function analysis of PECAM-1 and its role in vascular adhesive interactions.     

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy

Background  

The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported. Surprisingly, B cell depletion produced a response in patients with polymyositis, which is characterized as a T cell-mediated autoimmune disorder with biopsy findings similar to Miyoshi myopathy (MM). Indeed, in dysferlinopathies, there is evidence of immune system involvement including the presence of muscle inflammation and a down regulation of the complement inhibitory factor, CD55.     

Diminished concentrations of insulin-like growth factor I in cystic fibrosis

Cystic fibrosis is frequently accompanied by a catabolic condition with low body mass index caused by a number of disease complications. Insulin-like growth factor-I (IGF-I) is an anabolic hormone and an important marker of nutritional status, liver function, and linear growth. Available data on IGF-I in cystic fibrosis are sparse and conflicting. From 1990-3, 235 of our 240 patients (114 males, 121 females, median age 16.2 years, ranged 0.1-44.0 years) had IGF-I measured once by radioimmunoassay. IGF-I was significantly reduced compared with a healthy Scandinavian control population: mean (-2 SD to +2 SD) IGF-I SD score was -0.97 (-3.7 to 1.7) in males and -0.67 (-3.2 to 1.9) in females. Height SD score was -0.95 (-3.3 to 1.4) in males and -0.81 (-3.2 to 1.6) in females. In patients who were still in the growth period a significant correlation of IGF-I SD score to height SD score (r = 0.28, p < 0.001) was found. The low IGF-I concentrations may reflect the catabolic state of many patients with cystic fibrosis and play a part in their abnormal growth pattern.     

Alternative sources of neurons and glia from somatic stem cells

Stem cell populations have been shown to be extremely versatile: they can generate differentiated cells specific to the tissue in which they reside and descendents that are of different germ layer origin. This raises the possibility of obtaining neuronal cells from new biological source of the same adult human subjects. In this study, we found that epidermal growth factor (EGF) and basic fibroblast growth factor (bFGF) cooperated to induce the proliferation, self-renewal, and expansion of neural stem cell-like population isolated from several newborn and adult mouse tissues: muscle and hematopoietic tissues. This population, in both primary culture and secondary expanded clones, formed spheres of undifferentiated cells that were induced to differentiate into neurons, astrocytes, and oligodendrocytes. Brain engraftment of the somatic-derived neural stem cells generated neuronal phenotypes, demonstrating the great plasticity of these cells with potential clinical application.     

What information do breast cancer screening programmes provide to Italian women?

BACKGROUNDS: The necessity for building transparent communications on screening, both on risks and benefits, is shared by different sides. There is a general agreement that women cannot express informed participation in a screening programme unless they are given sufficient and adequate information. In the screening context, invitation letters and leaflets often represent the principal source of information. METHODS: The invitation letters and leaflets used by 60 Italian breast cancer screening programmes were collected and evaluated through a score sheet developed to verify what kind of information is provided to women. RESULTS: Fifty-three programmes (88.3%) answered and 47 (78.3%) were included in the analysis because of completeness of the material. Nearly all the programmes provide satisfactory practical information and explanations about the test and the screening aims. Few programmes mention the possibility of some discomfort during the exam (34.0%), quality assessment and operator training (10.6%), double reading (6.4%), radiation risk (6.4%) and data confidentiality (6.4%). 68.1% provide information about recall but none describes what a further assessment involves. Epidemiological and numerical information are present only occasionally. CONCLUSION: Although satisfactorily disclosing some practical information, Italian invitation letters and leaflets remain inadequate in managing side effects and risks. If accurate information has the potential to enable women to make an informed choice, the information inviting them to perform screening test must be improved. Further researcher is needed to evaluate different decision aids to meet women's desires for balanced information. KEY POINTS: Women cannot express informed participation in a breast screening programme unless they are given balanced information both on benefits and adverse effects. Current information screening tools often omit relevent data, fail to give information about pros and cons and ignore uncertainties. Despite these considerations, how much information should be given and how this should be framed remains still to be defined. Further evalutions of different ways of presenting information and women's information needs are urgently required.     

Comparison between laparoscopic and open repair for perforated peptic ulcer. A retrospective study

The aim of the study was to assess the differences in postoperative outcome in two well-matched groups of patients undergoing suture of a perforated peptic ulcer. The first 10 patients were treated laparoscopically, and the second group of 10 in a traditional manner through a midline xipho-umbilical incision. Operative technique was the same, only via a different access. Variables influencing outcome were matched for comparison of the influence of the technique. All patients underwent operation within 24 hours from onset of symptoms. Analysis of pre-, intra- and postoperative factors was done for the two groups. A significant difference was found only in the percentage of wound infections (0% vs 40%) in favour of the laparoscopic group. Surgical time, postoperative pain, resumption of feeding and discharge from hospital were similar in the two groups. As in other larger studies, our findings confirm the indication for laparoscopy in acute abdomen. The suture technique is feasible and safe and is to be considered as the gold standard when used with the same indications as in open surgery.