Early is Better: Report of a Cowden Syndrome.

In the clinical practice, it is not common for pediatricians to visit children with overgrowth phenotype. When it happens, it is important to focus on the age of manifestations and research the pathogenic causes using appropriate genetic test. Cowden syndrome is one of these rare causes; it is an autosomal dominant genodermatosis characterized by multiple hamartomas of ectodermal, mesodermal, and endodermal origin. It is caused by loss of function mutations in the phosphatase and tensin homolog (PTEN) gene located on chromosome 10q23.1 Loss of function of the PTEN gene contributes to overgrowth and risk for a variety of cancers including breast, thyroid, endometrium, skin, kidneys, and colon. The early diagnosis of Cowden disease allows a careful monitoring of the patients who are facing the risk of cancer transformation, which is the principal complication of the condition.

Fourth case of louse-borne relapsing fever in Young Migrant, Sicily, Italy, December 2015. Mini Review Article.

OBJECTIVES: Currently louse-borne relapsing fever (LBRF) is primarily found in limited endemic foci in Ethiopia, Somalia and Sudan; no case of imported LBRF has been reported in Europe in the 9 years prior to 2015. The aim of our paper is to describe a new case of imported LBRF detected in Sicily, Italy, and to review all cases reported in migrants arrived in Europe in the last 10 years. STUDY DESIGN: Mini review of all published cases of louse-borne relapsing fever in Europe in the last 10 years. METHODS: A computerized search without language restriction was conducted using PubMed combining the terms '(louse-borne relapsing fever or LBRF or recurrentis) and (refugee or Europe or migrant)' without limits. Furthermore, the 'Ahead-of-Print Articles' of the top 10 journals (ranked by Impact factor - Web of Science) of Infectious diseases and of Epidemiology were checked. RESULTS: Our search identified 26 cases of LBRF between July and October 2015 in migrants recently arrived in Europe: 8 had been described in Italy; 1 in Switzerland; 2 in the Netherlands; 15 in Germany. We describe data regarding the clinical characteristics, diagnostic methods, therapy and outcome of these patients and of the new case. CONCLUSIONS: LBRF by Borrelia recurrentis should be considered among the clinical hypotheses in migrants presenting with fever, headache, chills, sweating, arthralgia, myalgia, dizziness, nausea and vomiting.

Viral gastroenteritis in children hospitalised in Sicily, Italy.

The aim of the present study was to describe the epidemiologic and clinical characteristics of acute viral gastroenteritis in hospitalised Italian children. A total of 215 stool specimens were collected from January to December 2003 from patients hospitalised in Palermo for acute diarrhoea. Samples were tested for group A rotavirus, astrovirus, adenovirus, norovirus, enteropathogenic bacteria, and parasites. Rotaviruses, mostly belonging to types G1-G4, were detected in 25.1% of samples, astrovirus in 7%, adenovirus in 6%, norovirus in 18.6%, and bacterial agents in 17.2%. No parasitic infections were diagnosed. Mixed infections represented 9.8% of all cases. The mean and median ages of children with rotavirus gastroenteritis were lower than those of children with other viruses (p = 0.029), with the highest median ages being found in astrovirus-infected patients. Vomiting and dehydration were more frequent among patients with viral infection (p < 0.01), and the severity score was significantly higher for children infected with astrovirus or group A rotavirus (p = 0.008). Rotavirus was the leading cause of prolonged hospitalisation (p = 0.005). In conclusion, viruses were confirmed in Italy as the most common cause of severe enteric illness in childhood, with rotavirus types G1-G4, which correspond to those included in the rotavirus vaccines being developed, playing the main role. Routine testing should be introduced for noroviruses, since they seem to represent an important cause of sporadic paediatric gastroenteritis.

[Urinary schistosomiasis: remarks on a case]. / Considerazioni su un caso di schistosomiasi urinaria.

Urinary tract schistosomiasis is a parasitic disease caused by S. haematobium with a wide range of clinical manifestations related to the mucosal and submucosal granulomatous lesions of the bladder. It affects about 80 million people in Africa, Middle-East and India, while in Italy it is rarely seen among immigrants from endemic areas and returning travellers. The authors describe a case occurred in a 26 years old man, recently emigrated from a rural area of Ghana. He had the symptoms of a haemorrhagic cystitis. Cystoscopy and biopsy showed granulomatous lesions of bladder with calcified eggs. Microscopic examination of urine was positive for Schistosoma haematobium eggs. The therapy with Praziquantel (40 mg/Kg una tantum) was effective. The authors emphasized the risk of introduction of schistosomiasis in some regions of our country, in consideration of the presence of the intermediate host as well as of an appropriate climate.

[Human hydatidosis: advances and report of four paediatric cases with unusual presentation]. / Idatidosi umana: recenti acquisizioni e descrizione di quattro casi pediatrici a sede inusuale.

Human hydatid disease due to Echinococcus granulosus is frequently observed in Italy, especially in the central and southern areas and on the islands. In the last twenty years some major advances in the field of epidemiology as well as diagnostic and therapeutical approaches have changed our knowledge of this disease. In Italy, localization in the liver, kidney or peritoneum accounts for about 95% of cases. The authors describe four paediatric cases with unusual localization (kidney and muscle), highlighting difficulties in the diagnosis.

Treatment of human brucellosis with rifampin plus minocycline.

In order to evaluate the efficacy and tolerability of a high intravenous dose of rifampin plus oral minocycline (administered daily for 3 weeks) for the treatment of acute brucellosis, we retrospectively reviewed the outcome of 239 consecutive patients (135 adults and 104 children) diagnosed and treated over a 17-year period in Italy. The combination used resulted in 100% response and a relapse rate lower than 2%. Fifty-two (30 adults and 22 children) (29.8%) complained of mild adverse effects including an increase in aspartate aminotransferase (>250 IU) observed in 12 cases and considered related to rifampin and in 11 cases a reversible hyperpigmentation of the tongue attributed to minocycline. A randomized prospective comparative study should be performed to confirm our encouraging results.

Monocyte and lymphocyte apoptosis resistance in acute and chronic brucellosis and its possible implications in clinical management.

This study evaluated the level of susceptibility of monocytes and lymphocytes to spontaneously induced and CH11-induced apoptosis in 16 patients with Brucella infection. The expression of some immunological and apoptotic markers was evaluated. Before therapy, monocytes showed a high level of resistance to spontaneously induced or CH11-induced apoptosis in all patients. In patients with acute infection, this resistance persisted for 10-20 days after treatment was initiated, then decreased; in chronically infected patients, it persisted after 45 days of treatment. Lymphocytes were also more resistant to CH11-induced apoptosis. The level of activated CD8(+) T lymphocytes was high in patients with acute infection. The data indicate that the CD95-mediated apoptotic pathway is not involved in CH11 resistance. Lymphocytes are not infected by Brucella, so their resistance to apoptosis may be due to a soluble factor released by infected monocytes. The evaluation of levels of susceptibility to CH11-induced apoptosis in monocytes may be used to test the effectiveness of the therapy.

[Epidemiological features of intestinal parasitosis in western Sicily in the period 1993-2000]. / Epidemiologia delle parassitosi intestinali in Sicilia occidentale: osservazioni relative agli anni 1993-2000.

To determine the prevalence of intestinal parasitic infections in western Sicily from 1993 to 2000, fecal samples from 3024 patients (subdivided into native Sicilian children, migrants from developing countries and HIV+ patients,) were collected and observed on direct examination or by the formalin-ether sedimentation technique of Ritchie. Lugol, Kinyoun and Gomori's trichromic stain techniques were employed. Trophozoites or mainly protozoan cysts and helminthic eggs were detected in 195 patients (6.4%). The positivity rate was 18.7% in HIV+ patients, 10.3% in migrants and 5.0% in native Sicilian children. Tape test for Enterobius eggs was employed on 1449 patients with a positivity rate of 11%. The importance of parasitology also in new millennium is emphasized.

[Descriptive analysis of measles epidemic in Palermo, from September 1996 to June 1997. Failure of a vaccination campaign]. / Analisi descrittiva di un'epidemia di morbillo a Palermo dal settembre 1996 al giugno 1997. Insuccesso di una campagna vaccinale.

BACKGROUND: The authors report 1642 measles cases observed from September 1996 to June 1997 at the "G. Di Cristina" Children's Hospital. 34% of patients were hospitalized at the Division of Infectious Diseases. METHODS: The records of children admitted with measles to emergency area were retrospectively collected. The medical records (anamnestic, clinical and laboratory findings) of hospitalized children were obtained from schedules which since 1993 were performed to perspectively collect the exanthematous diseases. International criteria for the definition of measles case were applied. The variables considered were: background, demographic data, seasonal distribution, clinical presentation, complications and days of hospital stay. RESULTS: The results of this research showed that the outbreak involved predominantly infants. The complications accounted for 72% of measles hospitalized cases. Four cases of encephalitis were observed. A total of 1692 days of hospital stay was reported. CONCLUSIONS: These data show the failure in measles control adopted by the Sicilian Region and confirm the difficulties to achieve high percentage of parents participation to the infant recommended vaccination program.

Epidemiologic surveillance of visceral leishmaniasis in Sicily, Italy.

Visceral leishmaniasis (VL) is endemic in Sicily. Although it is a notifiable disease, there is evidence that the actual number of cases is higher than that reported. In 1987, a regional reference center for active surveillance of VL was established and it recorded a total of 284 cases through 1995, a mean of 31.5 cases/year and about four-fold more than previously reported. Of the 284 cases, 150 (53%) were children (< or = 14 years of age), and of the 134 adults, 39 (29%) were coinfected with human immunodeficiency virus (HIV). The commonest viscerotropic zymodeme of Leishmania infantum, MON 1, was identified in 40 (93%) of 43 HIV-negative and eight (57%) of 14 HIV-positive patients. Among 280 patients evaluated (i.e., all HIV-negative and 35 of 39 HIV-positive subjects), 254 (91%) were treated with meglumine antimoniate alone or in combination with other drugs; 23 (8%) received allopurinol or amphotericin B, either conventional or in liposomal form; and three terminally ill patients were not treated. Among the 245 HIV-negative patients, 236 (96%) were successfully cured, while nine (4%) (seven adults) died during the course of antimonial treatment. None of the 35 HIV-positive patients was definitively cured, although mortality was apparently associated with other opportunistic infections.

[Respiratory syncytial virus lower respiratory tract infection: our series]. / Le infezioni delle basse vie aeree da virus respiratorio sinciziale: la nostra casistica.

The authors report 57 cases of Respiratory Syncytial Virus (RSV) lower respiratory tract infection. The diagnosis was performed by detection of specific serum antibodies of IgM class or by direct detection of RSV antigens in nasopharyngeal specimens. Most of the patients were younger than one year. No one had risk factors for severe RSV infection form. All patients recovered. The authors emphasize the difficulties to discriminate between bronchiolitis and interstitial pneumonitis on the basis of the clinical and radiological features.

[Tuberculous meningo-encephalitis in pediatrics. Considerations on 71 cases (1968-1993)]. / Meningoencefalite tubercolare in età pediatrica. Considerazioni su 71 casi (1968-1993).

The tuberculous meningitis is an uncommon but severe complication of the tuberculosis mainly in childhood. Neurological sequelae are frequent and high mortality rate, till now, occurs. We reviewed the medical records of 71 cases and we evaluated the most frequent symptoms before the admission and signs and symptoms on the admission according to prognosis. An early diagnosis and specific anti-tuberculous treatment are essential in order to prevent permanent neurological sequelae and fatal outcome

[Not Available]. / Malattia acuta esantematica da parvovirus umano.

In June 1994 have been seen 16 patients with HPV B19 infection. The diagnosis was based on a positive E.L.I.S.A. test for IgM antibodies against HPV B19. No one of the patients had hematologic manifestations. Only one patient had fever, arthralgia and headache without skin involvement. The other 15 patients had skin lesion: rubella like rush in 11 cases, haemorragic exanthema in 2 and erythema infectious in 2 cases. Two children had liver involvement and one kidney involvement. The authors of this study remark the broad spectrum of clinical manifestations of HBV B19 infection and suppose a large diffusion of this disease, even in the symptomatic form.

Enzyme-linked immunosorbent assay for Brucella melitensis-associated antigens.

An ELISA assay was performed to detect antigens of Brucella melitensis directly in the blood of patients affected by Brucellosis. Disposable polystyrene microtiter plates were coated with rabbit immunoglobulins anti-Brucella melitensis antigens and then incubated with sera of Brucellosis patients and sera of not infected normal subjects as a control, to standardize the conditions of the different steps of the assay. The level of the blood-containing Brucella antigen bound to the plate was measured by addition of anti-Brucella melitensis antiserum conjugated with alkaline phosphatase followed by incubation with the specific enzyme substrate. Sera from 9 Brucellosis patients not undergoing therapy were tested by this ELISA assay, and all showed values significantly higher than the control. A pool of 96 sera from normal subjects not infected with Brucella melitensis was used as a negative control. In addition, a different group of 8 sera from patients with Brucellosis undergoing therapy were also analyzed, but no difference in the ELISA value was observed between the two groups with or without therapy. The ELISA assay described in this paper could be a reproducible, sensitive and suitable test to detect Brucella-antigens in the blood of Brucellosis patients and it could be used in addition to the more common methods for a more thorough diagnosis of Brucellosis.

Immunochemical identification of antigens of Brucella melitensis by means of CRIE.

A crude extract of Brucella melitensis was obtained by sonication, centrifugation and dialysis, and analyzed by quantitative immunoelectrophoresis. CIE analysis, using a high titer purified rabbit antibody anti-brucella fraction, showed that the Brucella melitensis extract contained at least 22 antigens that all moved towards the anode. The antigens of the crude extract able to interact with IgG of patients affected by brucellosis, were identified by means of CRIE using sheep 125I-anti human IgG. Fifteen sera of patients affected by brucellosis were analyzed by CRIE and three (Ag6, Ag12, Ag15) of the 22 antigens were able to bind specific human IgG to their corresponding immunoprecipitates. Ag6 was the only one present after one day of the CRIE plate exposure. After treatment of brucellosis patients with antibiotics for two weeks, the three antigens were still able to bind the specific IgG, after two months of treatment the antigens were reduced to two (Ag6, Ag15), while after ten months only one antigen (Ag6) was still able to bind specific human IgG. The brucellosis titer determined with common methods gave normal values after ten months of therapy. These results suggest that Ag6 is the most important antigen specific for human IgG. A preliminary determination of the molecular weight range of these antigens was carried out by a combination of size exclusion chromatography and CIE analysis. The Kav values were all above 66 kD.