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Henoch Schonlein Purpura (HSP) is a systematic IgA-mediated vasculitic disease that affects the small vessels of the skin, the joints, the gastrointestinal tract and the kidneys (1). It is the most common childhood vaculitis, with an incidence estimated at 3-26 per 100,000 children, and with a male-to-female ratio of 2:1 (2-6). The 90% of patients are under 10 years of age, with a mean age of 4 years (4). It seems to be most common in fall and winter in children, and summer and winter in adults (7). Recent studies suggested a strong genetic predisposition in individuals with immunoglobulin Avasculitis (IgAV) associated to HLA class II region. Clinically, the non-thrombocytopenic purpura often located on lower extremities and buttocks is the essential element for the diagnosis of HSP. Treatment is supportive, because the disease is usually benign and self-limited. Indeed, in children, the prognosis is good, with a self-limited course and without any complications and after a median follow-up of 12 months, complete recovery was obtained in 83% of the IgAV patients (4, 8). The aim of our study is to describe some atypical presentations of the HSP in children.

Urolithiasis is a well-known condition that can affect any part of the urinary tract. With a rate of 3-5% the incidence of upper urinary tract for long has been higher in adults (1-3), but recently it has increased among children reaching 3,3% . Indeed, more than 1% of all urinary stones are seen in patients aged less than 18 years (4). Pediatric urolithiasis is endemic in Turkey and Far East and it is probably due to malnutrition and racial factors (5). The spontaneous stone passage is more likely in children than in adults, indeed ureteral calculi spontaneously pass into 41-63% of children (1). Rate of stone passage depends on size and stone location in the urinary system. Stones sized less than 5 mm have a passage rate ranging from 40% to 98%, whilst stones5 mm have between 55% and 50% (6). In the last decade, the use of alpha blockers has proven well efficacious in helping spontaneous passage of distal ureteric stones in adults (7-9). The latest EAU guidelines support their use in adults while remain vague about their use in children because of unclear safety and efficacy (4). In search of evidence supporting or not the use of medical expulsive therapy in children we reviewed the literature dealing with the management of urolithiasis in pediatric patients. The primary aim of the present study was to evaluate the efficacy of medical expulsive therapy (MET), defined as stone expulsion rate, with a-blockers compared to a control group. The secondary aim was to assess the safety, defined as side effects rate, of MET compared to a control group.

Alport's syndrome (AS, OMIM 301050) is a hereditary disorder characterized by progressive renal failure, hearing impairment and ocular changes. It is clinically and genetically heterogeneous and in its natural history, renal disease progresses from microscopic haematuria to proteinuria, and finally to progressive renal insufficiency. AS is caused by an inherited defect in a type IV collagen, a structural material, expressed in many tissues that is essential for the normal function of different parts of the body. In most of cases, about the 85%, Alport's syndrome is X-linked and is originated by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive, or rarely in an autosomal dominant manner. Mostly, the condition is caused by mutations in the COL4A3 or COL4A4 genes. Coexisting mutations in COL4A3, COL4A4, COL4A5 or COL4A6 were found to cause an Alport's syndrome phenotype with digenic inheritance. Diagnosis of the condition is based on family history, clinical signs, and specific procedures such as a kidney biopsy. The diagnosis can be confirmed by genetic testing. Treatment may include use of a hearing aid, hemodialysis, and peritoneal dialysis to treat those with end-stage renal failure, and, as the last step, kidney transplantation. Firstly described by Arthur C. Alport's, in 1927, over the years it has become a pathology of high scientific interest. At the moment, thanks to advances in diagnostic techniques, it is possible to make an early diagnosis avoiding irreversible damages and life -threatening complications.

According to many studies, extracorporeal dialysis with convective methods is associated with better clinical outcomes and a survival benefit compared to diffusive techniques. However, there is no full agreement on the actual superiority of this kind of renal replacement therapy on hard end-points such as mortality. We performed a retrospective epidemiological cohort study to provide "real-world" evidence on the impact of convective and non-convective dialysis techniques on all-cause and cardiac mortality and biochemical outcomes among dialysis patients in Sicily, the southernmost region of Italy. Data of all incident adult patients (N = 6529) who have started chronic extracorporeal dialysis over the period 2009-2015 were retrieved from the Sicilian Registry of Nephrology, Dialysis and Transplantation. There were 1558 patients receiving convective techniques (23.86%). Overall mortality rate was 45.21% with a significant difference between convective (31.39%) and non-convective (49.55%) groups (P 0.0001). After adjustment for potential confounders in multiple Cox regression models of increasing complexity, the mortality risk remained significantly lower for patients treated with convective methods (HR, 0.581; 95%CI, 0.525 to 0.643; P 0.0001). Moreover, the convective group had a better blood chemistry profile, improved dialysis efficacy, and reduced mortality rate from cardiac diseases compared to the non-convective group. As a sensitivity analysis, patients were categorized according to propensity score quartiles and the hazard ratio for both all-cause and cardiac mortality was significantly lower for the convective group in each quartile. In conclusion, despite the observational and retrospective design, the results of the present study further support the use of convective therapies for the treatment of end-stage renal disease.

Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect

Nocturnal enuresis is defined as intermittent urinary incontinence during sleep that occurs at least twice a week for three consecutive months. There is no unifying etiology for nocturnal enuresis in the pediatric population and the disorder is likely to be multifactorial. We aimed to investigate the relationship between primary nocturnal enuresis, allergic rhinitis, and related complications in a paediatric case series from a single Center. We retrospectively reviewed and prospectively followed-up at our Institution (i) 32 children (14 females, 18 males; mean age 6.31±1.21 yrs) affected by allergic rhinitis with adenoidal hypertrophygrade I-II (group A) and (ii) 27 children (11 females, 16 males; mean age 6.52±1.33 yrs) affected by allergic rhinitis with adenoidal hypertrophy grade III-IV (group B). Allergic rhinitis was diagnosed on the basis of (a) typical nasal symptoms due to atopic sensitization (e.g., rhinorrhea , itching, sneezing fits, and nasal congestion and obstruction) and (b) positive skin prick testing and/or increased level of total serum IgE. We identified discrepancies between group A and group B in terms of risk of primary nocturnal enuresis. In fact, only 1 child of group A (3.12%) reported uncomplicated primary nocturnal enuresis; conversely, 6 children of group B (22.22%) showed a history of uncomplicated primary nocturnal enuresis (p=0.040). There was no statistically significant difference between the two groups in terms of atopic sensitization and serum total IgE levels (p=0.43). Allergic rhinitis may potentially influence the onset and the natural history of nocturnal enuresis in some children. Children with allergic rhinitis and more severe respiratory manifestations, seem to be more prone to developing primary nocturnal enuresis, likely due to potential multi-factorial causes (e.g., sleep disorders, chronic phlogosis, immune deregulation).

Microarrays permit to scientists the screening of thousands of genes simultaneously to determine, for example, whether those genes are active, hyperactive or silent in normal or cancerous tissues. A primary task in microarray analysis is to obtain a good measure of the gene expression that can be used for a so called higher level analysis. Different methods have been proposed for high density oligonucleotide arrays (see Cope et al. (2004) for a review). Aim of this paper is to obtain a new gene expression measure based on the background correction model proposed by Mineo et al. (2006). The proposed method is validated by means of a free available data-set called Spike-In133 experiment, where 42 genes are spiked in 42 arrays at known concentration from 0 to 512 pico-Molar (pM).

Gene expression microarrays allow a researcher to measure the simultaneous response of thousands of genes to external conditions. Affymetrix GeneChipr expression array technology has become a standard tool in medical research. Anyway, a preprocessing step is usually necessary in order to obtain a gene expression measure. Aim of this paper is to propose a calibration method to estimate the nominal concentration based on a non-linear mixed model. This method is an enhancement of a method proposed in Mineo et al. (2006). The relationship between raw intensities and concentration is obtained by using the Langmuir isotherm theory.

Microarray technology has been adopted in many areas of biomedical research for quantitative and highly parallel measurements of gene expressions. In this field, the high density oligonucleotide microarray technology is the most used platform; in this platform oligonucleotides of 25 base pairs are used as probe genes. Two types of probes are considered: perfect match (PM) and mismatch (MM) probes. In theory, MM probes are used to quantify and remove two types of error: optical noise and non specific binding. The correction of these two types of error is known as background correction. Preprocessing is an essential step of the analysis in which the intensity, read from each probe, is manipulated in order to obtain an expression measure for each gene. In this paper, we introduce a new method for the background correction by using a calibration approach based on a generalized linear mixed model (GLMM).

La tecnologia microarray ha il grosso pregio di misurare simultaneamente il livello di espressione di migliaia di geni. All’elevata quantità d’informazione fornita da un singolo chip si contrappone la necessità di un adeguato pretrattamento dei dati grezzi al fine di ottenere una misura “affidabile” del livello di espressione genetico. Scopo del lavoro è analizzare, attraverso un modello lineare generalizzato misto, il legame esistente fra il livello d’intensità osservato ed il livello di concentrazione, attraverso l’utilizzo degli esperimenti Spike-In forniti dall’Affymetrix. Si propone, quindi, un nuovo metodo per la correzione del background.

Background: Plasma homocysteine, a new cardiovascular risk factor in both children and adults, is higher in chronic renal failure or kidney transplant patients. This alteration has been linked, in chronic renal failure, to plasma protein damage, represented by increased I-isoaspartyl residues. We measured plasma homocysteine levels and plasma protein damage in pediatric patients from four different Italian regions with conservatively treated renal failure; hemodialysis, continuous ambulatory peritoneal dialysis (CAPD), or transplants, to establish the presence of protein damage and the relative role of hyperhomocysteinemia.Methods: High performance liquid chromatography (HPLC) separation measured total plasma homocysteine levels, using precolumn derivatization with ammonium 7-fluorobenzo-2-oxa-1, 3-diazole4-sulphonate (SBD-F). Plasma protein L-isoaspartyl residues were quantitated using human recombinant protein carboxyl methyl transferase (PCMT).Results. In all patient groups, homocysteine levels were significantly higher with respect to the control (Control: 6.87 +/- 0.73 muM) conservatively treated, 14.19 +/- 1.73 muM; hemodialysis, 27.03 +/- 4.32 muM; CAPD, 22.38 +/- 3.73 muM; transplanted, 20.22 +/- 2.27 muM, p

Juvenile psoriatic arthritis was diagnosed in a girl of 15 and a half years old, who presented with severe poly-arthritis and psoriasis. Treatment with etanercept 25 mg by subcutaneous injections, twice a week was started. After 5 months of treatment, she developed microscopic hematuria, proteinuria and progressive acute renal failure with anaemia and hypertension. Renal histology, IF, and EM findings were consistent with severe extracapillary crescentic pauciimmune glomerulonephritis. The histology findings, the onset of renal symptoms after beginning treatment with etanercept, and the absence of any abnormality in the urine tests before administration of the drug, support the hypothesis of a rare case of secondary nephropathy due to treatment with an anti-TNF-alpha drug.