Immunomodulation due to plasma or plasma-platelet apheresis donation: Events occurring during donation procedures.

Background: It has been recently shown that during therapeutic apheresis procedure, a large amount of soluble HLA class I molecules settles onto plastic apheresis circuits, inducing sustained TGFβ1 pre/post-transcriptional modulation in activated patients' leukocytes. Reportedly, donors' leukocytes may be exposed to similar immunosuppressing activities during donor apheresis procedures. On this basis, it could be hypothesized that such events can cause immune modulation.

Regulation of the mRNA half-life in breast cancer.

The control of the half-life of mRNA plays a central role in normal development and in disease progression. Several pathological conditions, such as breast cancer, correlate with deregulation of the half-life of mRNA encoding growth factors, oncogenes, cell cycle regulators and inflammatory cytokines that participate in cancer. Substantial stability means that a mRNA will be available for translation for a longer time, resulting in high levels of protein gene products, which may lead to prolonged responses that subsequently result in over-production of cellular mediators that participate in cancer.

Gene expression profiling in peripheral blood mononuclear cells of patients with common variable immunodeficiency: modulation of adaptive immune response following intravenous immunoglobulin therapy.

Background: Regular intravenous immunoglobulin treatment is used to replace antibody deficiency in primary immunodeficiency diseases; however the therapeutic effect seems to be related not only to antibody replacement but also to an active role in the modulation of the immune response. Common variable immunodeficiency is the most frequent primary immunodeficiency seen in clinical practice.

Methods: We have studied the effect of intravenous immunoglobulin replacement in patients with common variable immunodeficiency by evaluating the gene-expression profiles from Affimetrix HG-U133A.

Control of pro-angiogenic cytokine mRNA half-life in cancer: the role of AU-rich elements and associated proteins.

Control of mRNA half-life plays a central role in normal development and disease. Several pathological conditions, such as inflammation and cancer, tightly correlate with deregulation in mRNA stability of pro-inflammatory genes. Among these, pro-angiogenesis cytokines, which play a crucial role in the formation of new blood vessels, normally show rapid mRNA decay patterns.

A subset of anti-rotavirus antibodies directed against the viral protein VP7 predicts the onset of celiac disease and induces typical features of the disease in the intestinal epithelial cell line T84.

Celiac disease (CD) is an autoimmune disorder of the small intestine triggered by environmental factors in genetically predisposed individuals. A strong association between type 1 diabetes (T1DM) and CD has been reported. We have previously shown that rotavirus infection may be involved in the pathogenesis of CD through a mechanism of molecular mimicry.

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.

Heterozygous in frame trinucleotide duplications within the PHOX2B gene, leading to poly-alanine expansions, cause Congenital Central Hypoventilation Syndrome. Here we report about a CCHS patient, carrying a +13Ala PHOX2B expansion, whose asymptomatic mother resulted with a low level of mosaicism for the same mutation in peripheral blood cells. Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the PHOX2B mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families.

Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up.

In 2010, we reported the successful clinical outcome related to a 20-month course of intravenous, cyclical ceftriaxone, in a patient with adult-onset Alexander's disease. We now provide evidence that the progression of the patient's signs/symptoms was halted and reversed with a 4-year-long extension of the trial.The patient's clinical signs/symptoms were evaluated before the start and every 6 months for 6 years.

A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase.

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation.

Structural bases for heme binding and diatomic ligand recognition in truncated hemoglobins.

Truncated hemoglobins (trHbs) are low-molecular-weight oxygen-binding heme-proteins distributed in eubacteria, cyanobacteria, unicellular eukaryotes, and in higher plants, constituting a distinct group within the hemoglobin (Hb) superfamily. TrHbs display amino acid sequences 20-40 residues shorter than classical (non)vertebrate Hbs and myoglobins, to which they are scarcely related by sequence similarity. The trHb tertiary structure is based on a 2-on-2 alpha-helical sandwich, which represents a striking editing of the highly conserved 3-on-3 alpha-helical globin fold, achieved through deletion/truncation of alpha-helices and specific residue substitutions.

Positive expiratory pressure in the physiotherapeutic management of primary ciliary dyskinesia in paediatric age.

The clinical features of primary ciliary dyskinesia are related to congenital impairment of mucociliary clearance, which represents the common aetiopathogenetic denominator. If untreated, the disease evolves with progressive, slowly developing, structural lung damage. Chest physiotherapy may play a relevant role in the therapeutic management of this pathological condition, owing to the improvement in mucus transport and the recruitment of the obstructed lung periphery.

Intracranial contrast-enhancing masses in infants with capillary haemangioma of the head and neck: intracranial capillary haemangioma?

Contrast-enhancing intracranial masses are rarely found in infants with extracranial capillary haemangiomas (CH). We aimed to assess their nature and progression in three patients undergoing CT and/or MRI. The changes in size of both extra- and intracranial lesions were recorded.

Extraventricular neurocytoma with ganglionic differentiation associated with complex partial seizures.

We report an unusual case of extraventricular ("cerebral") neurocytoma with ganglion cells located in the right temporal lobe in a 9-year-old girl with complex partial seizures and precocious puberty. CT showed a calcified mass with central cystic zones. MR imaging showed a markedly hyperintense predominately solid tumor on both T1- and T2-weighted images, without appreciable contrast enhancement.

Anxiety of the 8th month in the preterm child.

Background: Aim of this paper was to verify whether the condition described by Spitz as anxiety of the 8th months occurs earlier in the preterm than in the child born at term.

Methods: A prospective study was carried out on 27 subjects subdivided into three groups of 9, 8, 10 patients, respectively, according to gestational age (group I < or = 33 weeks; group II > or = 34 < or = 37 weeks; group III > or = 38 < or = 41 weeks). The cases were selected at random from the patients admitted to the Neuropsychomotor Unit of the Gaslini Institute of Genoa (Italy), from May 1, 1993 to May 22, 1998.

Production of hematopoietic growth factors by human B lymphocytes: mechanisms and possible implications.

In this study we have investigated the ability of human B lymphocytes to produce granulocyte-macrophage colony stimulating factor (GM-CSF) and, in preliminary experiments, granulocyte CSF (G-CSF). The sources of human B cells were surgically removed tonsils from normal individuals and peripheral blood from patients with B cell chronic lymphocytic leukemia (B-CLL). Tonsil B lymphocytes were purified by E rosetting and complement-mediated cytotoxicity with selected monoclonal antibodies and subsequently fractionated by a Percoll density gradient into in vivo activated and resting cells.