Varied spectrum of clinical presentation and mortality in a prospective registry of visceral leishmaniasis in a low endemicity area of Northern Italy.

Background: Visceral Leishmaniasis (VL) is endemic in 88 countries, in areas of relatively low incidence with a relevant proportion of immune suppressed patients clinical presentation, diagnosis and management may present difficulties and pitfalls.

Methods: Demographic data, clinical, laboratory features and therapeutic findings were recorded in patients identified by a regional VL disease registry from January 2007 to December 2010.

Results: A total of 55 patients (36 adults mean age 48.

Clinical and socioeconomic impact of different types and subtypes of seasonal influenza viruses in children during influenza seasons 2007/2008 and 2008/2009.

Background: There are few and debated data regarding possible differences in the clinical presentations of influenza A/H1N1, A/H3N2 and B viruses in children. This study evaluates the clinical presentation and socio-economic impact of laboratory-confirmed influenza A/H1N1, A/H3N2 or B infection in children attending an Emergency Room because of influenza-like illness.

Methods: Among the 4,726 children involved, 662 had influenza A (143 A/H1N1 and 519 A/H3N2) and 239 influenza B infection detected by means of real-time polymerase chain reaction.

Management of chronic hepatitis C in childhood: the impact of therapy in the clinical practice during the first 2 decades.

Background And Aim: Treatment of chronic hepatitis C in children is controversial and its role in the clinical practice is unknown. We retrospectively investigated the impact of treatment in a large cohort of children with chronic hepatitis C over the past 20 years.

Methods: 376 hepatitis C virus RNA positive children were recruited consecutively in five Italian centres since 1990 and followed for 1-17 years.

Clinical importance and impact on the households of oseltamivir-resistant seasonal A/H1N1 influenza virus in healthy children in Italy.

A resistance of A/H1N1 influenza viruses to oseltamivir has recently emerged in a number of countries. However, the clinical and socioeconomic importance of this resistance has not been precisely defined. As children have the highest incidence of influenza infection and are at high risk of severe disease, the aim of this study was to evaluate the clinical importance and the impact on the households of oseltamivir-resistant seasonal A/H1N1 influenza virus in an otherwise healthy pediatric population.

Treatment of viral hepatitis B in children.

Importance Of The Field: Treatment of chronic hepatitis B (CHB) in children is aimed at reducing viral replication and at minimizing liver injury and related consequences in children with chronic active viral liver infection.

Areas Covered In This Review: In this review, treatment options available for both adults and children are summarized, together with suggestions from our own experience. The most relevant works published between 1982 and 2009 on PubMed/Medline database search were used.

Natural course of HCV infection in childhood cancer survivors.

Goals Of Work: To describe the course of hepatitis C in a cohort of 105 survivors after childhood cancer.

Patients And Methods: Data on chemo/radiotherapy, clinical status, serial alanine aminotransferase (ALT) evaluation, and virological parameters after the end of treatment were collected for each patient. Liver biopsies, when performed, were centrally evaluated by a pathologist.

Universal childhood immunisation against Streptococcus pneumoniae: the five-year experience of Liguria Region, Italy.

Liguria was the first Italian Administrative Region, since 2003, to actively recommend free-of-charge immunisation, of all infants, with heptavalent Pneumococcal Conjugate Vaccine (PCV-7), within a research pilot-project. Vaccination coverage among infants rapidly increased from 42.8% in 2003 to 83.

Etanercept as a salvage treatment for refractory aplastic anemia.

About 10-15% of patients with acquired aplastic anemia (AAA) have resistant/recurrent disease not eligible for standard treatment like hematopoietic stem cell transplantation and/or combined immunosuppression. We report a 17-year-old male with an 11 years history of AAA who, after two courses of immunosuppression, was red cell transfusion-dependent, severely thrombocytopenic, refractory to platelet transfusion, had iron overload and post-transfusion HCV infection. This patient achieved transfusion independence from platelets and normalized Hb after treatment with the anti-TNF agent Etanercept.

Epidemiology and clinical features of Mycoplasma pneumoniae infection in children.

Mycoplasma pneumoniae (MP) is, considered to affect rarely children less than 5 yrs of age. This study was performed to describe the epidemiology and the clinical features of MP lower respiratory tract infection (LRTI) in children, presenting to a tertiary children hospital. Eleven month-longitudinal study of LRTI due to MP, diagnosed by polymerase chain reaction (PCR) on throat swab specimen, was performed.

Long-term course of chronic hepatitis C in children: from viral clearance to end-stage liver disease.

Background & Aims: The natural course of chronic hepatitis C (CHC) in children is not well understood. The aim of this study was to assess the long-term course of CHC in a large sample of otherwise healthy children.

Methods: From 1990 to 2005, 504 consecutive antihepatitis C virus (HCV)-positive children were enrolled at 12 centers of a national observatory and were followed up retrospectively/prospectively.

Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study.

Epidemiological profile of 806 Italian children with hepatitis C virus infection over a 15-year period.

Background/aims: To evaluate the epidemiological profile of Italian children with hepatitis C virus (HCV) infection over a 15-year period.

Methods: Fifteen tertiary care centers, belonging to a national Observatory established in 1998, retrospectively/prospectively recruited 806 consecutive HCV-infected, otherwise healthy, children seen from 1990 to 2004.

Results: Seven hundred and sixty four were Italian and 42 from foreign countries.

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.

Background: It has recently been demonstrated that the Wilson disease (WD) protein directly interacts with the human homolog of the MURR1 protein in vitro and in vivo, and that this interaction is specific for the copper transporter. The aim of the present study was to clarify the role of MURR1 in the pathogenesis of WD as well as in other WD-like disorders of hepatic copper metabolism of unknown origin.

Methods: Using the single-strand conformation polymorphism (SSCP) method followed by sequencing, we analyzed the 5' untranslated region (UTR) and three exons of the MURR1 gene in three groups of patients: 19 WD: patients in whom no mutations were detected in the ATP7B gene, 53 WD: patients in whom only one mutation in the ATP7B gene was found, and 34 patients in whom clinical and laboratory data suggested a WD-like disorder of hepatic copper metabolism of unknown origin.

Cerebrovascular disease and varicella in children.

Varicella-associated stroke has been reported with increasing frequency in recent years. In many cases, diagnosis is difficult because of the late onset of manifestations after the acute infectious episode. Four cases of cerebrovascular disease after varicella infection were observed.

HCV infection in very-long-term survivors after cancer chemotherapy and bone marrow transplantation: a single-center experience.

The long-term evolution of hepatitis C virus (HCV) infection in oncologic and/or transplanted patients is still unknown. Patients treated for cancer are different from the general HCV-infected population because of the immunosuppression and the hepatotoxic treatments, which act as co-factors of liver damage. Recently it was observed that antimetabolites play a role in accelerating the process of hepatic fibrosis.

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

Autosomal recessive autoinflammatory disorder caused by mutations of the mevalonate kinase gene (MVK), leading to mild, incomplete MK enzyme deficiency (MKD), has been known so far as Hyper-IgD and periodic fever syndrome (HIDS) and regarded as mostly occurring in Northern Europe. Here we report the results of the molecular characterization of the first Italian series of patients affected with autoinflammatory disorders and periodic fever. A total of 13 different mutations, scattered throughout the MVK coding region, were identified in either homozygous or compound heterozygous state in 15 patients.

Serum transaminases in children with Wilson's disease.

Objectives: The response of serum transaminase levels to penicillamine and zinc treatment in Wilson's disease is poorly understood. The aim of this multicenter retrospective study was to evaluate transaminase levels after penicillamine and zinc treatment in children with Wilson's disease.

Patients And Methods: One hundred and nine patients with Wilson's disease (median age at diagnosis, 7.

Unusual manifestations of infections due to Mycoplasma pneumoniae in children.

Mycoplasma pneumoniae (Mp) is an important cause of pneumonia in paediatric age, but also other organs or systems can be affected even without pulmonary involvement. The purpose of this study is to stress the unusual clinical features of Mp infection in children. A review of children affected with Mp infection with peculiar pulmonary and/or extra-pulmonary forms is reported.

A 6 day course of liposomal amphotericin B in the treatment of infantile visceral leishmaniasis: the Italian experience.

Objectives: To evaluate in a retrospective analysis the efficacy and safety of a 6 day course of liposomal amphotericin B (L-AmB) in infantile cases of Mediterranean visceral leishmaniasis (VL) diagnosed over a 10 year period in Italy.

Patients And Methods: Patients included were diagnosed as having VL consecutively admitted from December 1992 to December 2001 at four main referral children's hospitals in Italy and treated with six intravenous doses of 3 mg/kg L-AmB given on days 1-5 and 10 (a total dose of 18 mg/kg). Demographic data, nutritional status, underlying diseases, clinical and laboratory findings, and therapy outcome were considered.

[Tuberculosis infection and disease in immigrant children].

From the second half of the eighties, the cases of tuberculosis (TBC) in Italy have been constantly increasing. The increase in TBC cases in developed countries is related to different factors, including HIV epidemic and increased number of immigrants from countries with high TBC incidence and important socio-economic problems. Compared with adults few children with TBC were homeless or coinfected with HIV, nonetheless the children lived frequently in low socioeconomic status and consequently high risk of being uninsured and with adults at risk for tuberculosis (immediate relative, household members, or recently immigrated).