The glycopeptide CSF114(Glc) detects serum antibodies in multiple sclerosis

Synthetic glycopeptides have the potential to detect antibodies in multiple sclerosis (MS). In the present study, we analyzed the antibodies (IgM class, IgG class and IgG subclasses) to the synthetic glycopeptide CSF114(Glc) in the serum of 186 MS patients, 166 blood donors (BDs), 25 patients affected by meningitis/encephalitis, 41 affected by systemic lupus erythematosus (SLE) and 49 affected by rheumatoid arthritis (RA). The IgM antibody level to CSF114(Glc) was significantly increased in MS patients versus BDs (p<0.001) or versus other autoimmune diseases (SLE or RA, p<0.001). The IgG response was restricted to the subclass IgG2. IgM antibodies to CSF114(Glc) were found in 30% of relapsing/remitting MS patients and, at lower levels, in subjects affected by meningitis/encephalitis. The study of antibodies to CSF114(Glc) is a new, potential immunological marker of MS.     

Arterio-venous gradient of endothelial progenitor cells across renal artery stenosis

A role for circulating progenitor cells have been recently demonstrated in many pathological conditions. Endothelial progenitor cells (EPCs) localize at sites of ischemia and stimulate neovasculogenesis. This small study was carried out to assess whether selective blood sampling during renal angiography could demonstrate an arterio-venous gradient of EPCs in 5 patients with renal artery stenosis. Surprisingly, we found that EPCs were more abundant in venous than in arterial blood, suggesting that the kidney subjected to chronic ischemia may become a source rather than a target of EPCs.     

Heel lance in newborn during breastfeeding: an evaluation of analgesic effect of this procedure

Objectives

The reduction of pain due to routine invasive procedures (capillary heel stick blood sampling for neonatal metabolic screening) in the newborn is an important objective for the so-called "Hospital with no pain". Practices such as skin to skin contact, or breastfeeding, in healthy newborn, may represent an alternative to the use of analgesic drugs. The aim of our work is to evaluate the analgesic effect of breastfeeding during heel puncture in full term healthy newborn.

Methods

We studied 200 healthy full term newborns (100 cases and 100 controls), proposing the puncture to mothers during breastfeeding, and explaining to them all the advantages of this practice. Pain assessment was evaluated by DAN scale (Douleur Aigue Nouveau ne scale).

Results

The difference in score of pain according to the DAN scale was significant in the two groups of patients (p = 0.000); the medium score was 5.15 for controls and 2.65 for cases (newborns sampled during breastfeeding).

Conclusion

Our results confirmed the evidence of analgesic effect of breastfeeding during heel puncture. This procedure could easily be adopted routinely in maternity wards.     

Non-classical 21-hydroxylase deficiency in boys with prepubertal or pubertal gynecomastia

This report describes two boys who were evaluated for the first time at the ages of 9.8 (patient 1) and 13.4 years (patient 2), due to either prepubertal or pubertal gynecomastia. The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2. In both boys, gynecomastia completely regressed 5-8 months after the institution of glucocorticoid substitutive treatment. We conclude that it is mandatory to suspect NC 21-OH-D in the clinical evaluation of either prepubertal or pubertal gynecomastia, since this association might be more frequent than reported so far, and that it is important that diagnosis is made by the first months after gynecomastia development, since a longstanding gynecomastia is unlikely to respond completely to medical therapy.     

Patau syndrome with long survival in a case of unusual mosaic trisomy 13

We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported.     

Biomaterial implantation in facial esthetic diseases: ultrasonography monitor follow-up

Facial deficit diseases are corrected by biomaterial implantation. The ideal biomaterial should be easy to implant and remove and simple to be identified by a low-dose radiation and low-cost radiologic technique. The purpose of this work was to evaluate ultrasonography (US) as a technique in monitoring biomaterial status after operation. In the last 3 years, for this study we used polyethylene porosus and polyacrylamide. Our study included 300 patients grouped accordingly as follows: malformative syndromes, degenerative syndromes, and esthetic problems, results of skull-facial traumas, and whether they are treated in the early phase and or the late phase. In this paper, we describe the better 15 clinical cases for their excellent result and for their variety of US images. Ultrasonography has been shown as an excellent way to visualize clinical features and a possible pathologic process of an implanted biomaterial; it is a noninvasive, low-radiation and low-cost dose radiologic technique. Reconstruction in facial deficit diseases needs adequate biomaterial to implant and a careful patients observation, that is, both clinical and radiologic. Ultrasonography is a fundamental component of the follow up of implanted biomaterial patients.     

Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation

Type I hyperprolinemia (HPI) is an autosomal recessive disorder caused by proline oxidase deficiency. This enzyme is encoded by the proline dehydrogenase (PRODH) gene on 22q11. The functional consequences of different PRODH mutations on proline oxidase activity have been characterized in vitro. Few patients with HPI with epilepsy and cognitive/behavioral disturbances have been described so far. We screened four Italian children with HPI presenting epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotype-phenotype correlation.