Search

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.

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.

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).

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.

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.

Nephrotic syndrome is a condition of massive proteinuria that leads to hypoalbuminaemia and oedema. In the pediatric age, the most common form of nephrotic syndrome is childhood idiopathic nephrotic syndrome (CINS). Although the etiological mechanisms underlying CINS are still unclear, the disease is considered to be immune-mediated. Several studies have previously reported a possible association between CINS and atopy, with the latter defined as abnormal immunoglobulin-E response on the background of a T-helper 2 (Th2)-driven immune system. In fact, both experimental and clinical studies have suggested that idiopathic nephrotic syndrome can be associated and/or triggered by a wide array of atopic diseases, though this remains a highly controversial topic. Exposure to inhalant-allergens (and/or introduction of food-allergens) has been previously correlated with the onset and/or the relapse of CINS in some children and a significant worse response to steroid therapy has been also described in reports of CINS associated to concomitant atopic diseases. In this review, we analyzed previous studies with the aim to clarify, basing on the existent literature, the association between atopy and idiopathic nephrotic syndrome. Additionally, we also speculated on the underlying immunological pathways that could potentially make some children prone to both CINS and atopic diseases.

Nocturnal enuresis (NE) was defined by the World Health Organization (ICD-10) and the American Psychiatric Association (DSM-5) as bed-wetting in children aged5 years. In cases of mental retardation, the developmental age may be equivalent to 5 years. In this review, we focus on the current knowledge about the etiology of enuresis and the most recent therapeutical options. Both non-pharmacological and pharmacological therapies are included, although the relative effectiveness of each remains uncertain. To date, motivational, alarm and drug therapies are the mainstay of treatment. Alarm therapy remains the first-line treatment modality for NE, while desmopressin is the most commonly used medical treatment.

Diabetes insipidus (DI) is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (centraldiabetesinsipidus, CDI) or renalinsensitivity to AVP (nephrogenicdiabetesinsipidus, NDI). We report a case of a child with congenital NDI.

PURPOSE: The maximum resting pressure in the anal canal is greatly raised after hemorrhoidectomy. This increase is likely to be the cause of postoperative pain, which is still the most troublesome early problem after hemorrhoidectomy. This study was designed to compare, after hemorrhoidectomy, the effects of intrasphincter injection of botulinum toxin vs. application of glyceryl trinitrate ointment in improving wound heating and reducing postoperative pain at rest or during defecation. METHODS: Thirty patients with hemorrhoids of third and fourth degree were included in the study and randomized in two groups. Anorectal manometry was performed preoperatively and 5 and 40 days after hemorrhoidectomy. One group received one injection containing 20 IU of botulinum toxin, whereas the other an application of 300 mg of 0.2 percent glyceryl trinitrate ointment three times daily for 30 days. RESULTS: Five days after hemorrhoidectomy, maximum resting pressure was significantly reduced compared with baseline values in both groups (85 +/- 15 vs. 68 +/- 11 mmHg for the group treated with botulinum toxin, 87 +/- 11 vs. 78 +/- 11 mniHg for the group treated with glyceryl trinitrate ointment). Overall analysis of postoperative pain at rest showed a significant reduction in the botulinum toxin group vs. glyceryl trinitrate group, whereas pain during defecation and time of healing were similar. Adverse effects, such as headaches, were observed only in the glyceryl trinitrate group. Forty days after hemorrhoidectomy in the glyceryl trinitrate group, maximum resting pressure values were similar to preoperative ones, whereas the values were still reduced in the botulinum toxin group. CONCLUSIONS: A single intrasphincter injection of botulinum toxin was more effective and safer than repeated applications of glyceryl trinitrate in reducing early postoperative pain at rest but not during defecation.