Clinical characteristics and cardiac outcome of acute rheumatic fever in Italy in the last 15 years.

OBJECTIVE: To analyze clinical characteristics, cardiac outcome and response to therapy of an Italian pediatric population affected with acute rheumatic fever (ARF) in the last 15 years. METHODS: 135 patients with ARF (aged 2-14.9 years, mean 8.4+/-2.5 years) diagnosed from 1992 to 2006 at the Pediatric Rheumatology Centre of the University of Milan (Italy) were retrospectively reviewed. All patients underwent physical examination, laboratory evaluation, electrocardiogram and echocardiography. Patients were divided into 2 groups: group 1 - patients with complete adherence to updated Jones criteria (107 patients), and group 2 - exceptions (28 patients). Echocardiographic criteria were used to confirm the presence of carditis and to evaluate severity of mitral (MR) and aortic regurgitation (AR) at diagnosis and after treatment with steroids or acetylsalicylic acid (ASA)/non-steroidal anti-inflammatory drugs (NSAIDs). RESULTS: We observed a persistence of ARF in the last 15 years (mean 9 new cases/year with a peak of 19 cases in 2000). Carditis and arthritis were the main major criteria observed (102/135 and 71/135 patients respectively), then chorea (29/135), erythema marginatum (8/135) and subcutaneous nodules (1/135). Arthritis and chorea resolved completely with various therapies. At the last follow-up (> or =5 years) in group 1, loss of MR was observed in 46% steroid-treated (26/56 cases) and in 39% ASA/NSAID-treated (7/18 cases) patients and loss of AR in 59% steroid-treated (22/38) and 2/7 ASA/NSAID-treated patients (p>0.05). CONCLUSION: Incidence of ARF is clinically important currently in the area of northern Italy. Non-suppurative complications of streptococcal pharyngitis should be considered when deciding therapy in a pediatric patient that presents with sore throat.

[Acute acalculous cholecystitis as a complication of hepatitis A: report of 2 pediatric cases]. / Colecistite acuta acalcolotica in corso di epatite A: 2 casi pediatrici.

Acute acalculous cholecystitis (CAA) is very rare in children and it is usually related to infectious agents. We report 2 paediatric cases of CAA complicating hepatitis type A, with a favourable evolution with conservative treatment.

[Hepatitis type A with atypical course]. / Epatite A ad evoluzione atipica.

Hepatitis A virus infection is usually asymptomatic in children. Classic symptomatic forms and atypical clinical manifestations are known. We report a paediatric case of hepatitis A with marked cholestasis, treated with steroids, and with an unusual prolonged course.

Synovial cyst in juvenile idiopathic arthritis.

Small synovial cysts are a common manifestation of juvenile idiopathic arthritis; large brachial cysts, however, are a rare sign of the disease and they must be differentiated from other soft tissue swelling which are not related to articular involvement. We describe the case of three children with juvenile idiopathic arthritis who came to our attention with large synovial cysts. Ultrasonographic examination and MRI were performed in all cases, showing the real nature of the swelling and the connection to the joint. In all cases, swelling reduced and then disappeared with control of disease activity; in two cases, they reappeared in coincidence with a severe relapse of juvenile idiopathic arthritis. Brachial swellings represent a diagnostic challenge because they can be the clinical expression of a variety of diseases. In children with juvenile idiopathic arthritis who present with a sudden swelling of the upper arm, synovial cysts must be considered in the diagnostic workout, because they are a possible rare manifestation of juvenile idiopathic arthritis.

Comparative study of body temperature measured with a non-contact infrared thermometer versus conventional devices. The first Italian study on 90 pediatric patients.

AIM: The aim of this study was to evaluate the reliability of measuring body temperature with an infrared non contact thermometer versus conventional devices in infants and children. METHODS: A total of 90 pediatric patients, comprising inpatients and ambulatory patients, examined at the Second Children's Clinic of the University of Milan were recruited and divided by age into 3 groups (<1 year, 1-5 years, >5 years of age). The body temperature of each patient was measured using the study device at three sites (forehead, navel, axilla) and three other commercially available thermometers. Correlation between the measurements was tested with linear regression analysis. RESULTS: The correlation between the measurements was statistically significant; the temperature measured at the three body sites (forehead, navel, axilla) were comparable with those taken with the other thermometers in a statistically significant way. CONCLUSION: The noncontact Thermofocus infrared thermometer can measure body temperature accurately and reproducibly at various body sites. Thanks to its technology, the device can measure body temperature quickly and noninvasively, an essential feature in pediatric practice.

[Proposal for a protocol for the staging of incontinentia pigmenti in pediatric age]. / Proposta di un protocollo per la stadiazione della Incontinentia Pigmenti in età pediatrica.

Incontinentia Pigmenti (IP) is an X-linked dominant disorder of skin with neurologic and ophthalmologic involvement. IP predominantly affects females because the mutations are usually lethal in males in utero. IP is characterized by abnormalities of neuroectodermal tissues. IP is caused by mutations in a gene called NEMO, which is required to activate the NF-kB pathway. We present a diagnostic protocol for IP and a meta-analysis of the clinical spectrum of IP in 82 patients cited by MEDLINE in the European literature from 2000 to 2006.

[Incontinentia pigmenti: case report]. / Incontinentia pigmenti: descrizione di un caso clinico.

IP is an uncommon X-linked dominant disorder (incidence: 1/40.000 newborn). It is caused by mutations in NEMO. It is characterized by cutaneous lesions and dental, ocular, neurologic, nails, hair disorders. The ocular and neurologic sequelae represent the major morbidity in IP. We present a case-report with classical cutaneous features diagnostic for IP. The clinical, ophtalomologic and neurologic examinations revealed no other pathological manifestations.

Vertebral artery dissection in a child. Is "spontaneous" still an appropriate definition?

Though a rare cause of stroke in the general population, in almost one quarter of young patients affected by stroke cervical artery dissection (CAD) is the underlying cause. Among these cases "spontaneous" dissections, intended as non-traumatic, represent about 34% of posterior circulation arterial dissection in patients aged less than 18 years. We here describe the case of a seven-year-old boy who developed a spontaneous vertebral artery dissection (VAD) leading to occipito-mesial, thalamo-capsular and cerebellar infarction. Once a traumatic origin was excluded, clinical history and laboratory findings were further analysed: fever associated with tonsillitis during the previous week, raised inflammatory indices, a throat culture positive for beta haemolysing Streptococcus group A and high titres of streptococcal antibodies were found. This case suggests that patients with CAD referred as spontaneous deserve extensive analysis. Subjects presenting with a dissection and an underlying infection are likely to have a hyperinflammatory response (although further experience is needed). In these patients immediate start of antibiotic therapy, treatment with anti-inflammatory drugs and further a lifelong prophylaxis with antibiotics before any invasive procedure are strongly recommended.

Behaviour during attacks and assessment of intensity in primary headaches of children and adolescents.

Assessment of attack intensity in primary headaches of paediatric age has not received great attention in the literature to date and in the international classification the criteria to define pain intensity are also not specified. The purpose of this research was to evaluate whether behaviour during attacks, reported by the child or a parent, can be used as a measure of attack disability, and so as an indirect measure of attack intensity in primary headaches of children and adolescents. The subjects were 320 patients aged between 3 and 14 years (mean age 9.9 years, SD 2.6 years) affected by primary recurrent headaches and first seen at a headache clinic. Twelve variables taken from their history were considered and sequentially analysed with multiple correspondence analysis and cluster analysis. Five types of behaviour during attacks were identified: (i) the child (or the parent) is unable to answer the questions or the child has no limitation in activities; (ii) the child may have some activity limitation, but only in lively games; (iii) the child has limitations in daily life with regard also to quiet activities; (iv) at least during some attacks the child lies down with closed eyes or in the dark; (v) during each attack the child lies down with closed eyes or in the dark. The least important variables for the identification of the five behaviour types were studying at school and absence from school. There are some limitations in considering child's behaviour as a measure of attack intensity/disability; one of these is the fact that it was found to be related to the educational level of the mother. However, behaviour during attacks, reported by the child or the parent, provides useful information independently of child's age and, together with the score of pain, when this is given, it can be used as measure of attack intensity.

Clivus osteomyelitis secondary to Enterococcus faecium infection in a 6-year-old girl.

A 6-year-old girl was diagnosed to suffer from clivus osteomyelitis secondary to Enterococcus faecium infection. On the basis of the magnetic resonance image, the abscess was drained via the posterior wall of the pharyngeal tract immediately. Subsequent antibiotic therapy allowed rapid improvement and long-term healing of the osteomyelitic process without any side effect. Osteomyelitis or abscess of the clivus is very rare in adult patients and extremely rare in children. Some etiopathogenetic hypotheses are discussed in this case.

Altered cytokine and acute phase response protein levels in the blood of children with Downs syndrome: relationship with dementia of Alzheimer's type.

Downs syndrome (DS) subjects are at high risk of developing Alzheimer's disease (AD). Patients with AD often show altered levels of some immune molecules in their peripheral blood which correlate with cognitive impairment. However, whether the altered peripheral immune phenotype is a late and secondary phenomenon associated with dementia or an early impairment linked to mechanisms controlling neurodegeneration of the central nervous system (CNS) is still an unanswered question. Here we studied immune molecules in the blood of non demented children with DS to investigate whether altered peripheral immune phenotype could be present in these subjects without dementia, many years before the presentation of clinical signs of cognitive deterioration. Plasma levels of interleukin-6 (IL-6) and soluble IL-6 receptor (sIL-6R) were significantly higher in DS than in control children. Plasma levels of soluble intercellular adhesion molecule-3 (sICAM-3), soluble vascular cell adhesion molecule-1 (sVCAM-1) and C reactive protein (CRP) were also increased in DS. The increase of IL-6 and CRP from DS children was similar to that found in elderly patients with clinical AD. Peripheral altered immune phenotype in healthy young subjects with DS might be an early sign of CNS alterations leading many years later to cognitive deterioration and dementia.

[CVS-cardiac thrombosis related in a child with an intracranial germinoma]. / Trombosi intracardiaca grave in paziente affetta da germinoma intracranico portatrice di CVC.

We report a case of a CVC infection with a grave cardiac thrombosis in a child afflicted with intracranial functioning germinoma. During the second chemotherapeutic cycle we found a positive blood culture and a partial CVC occlusion; echocardiography showed a 2 cm diameter interatrial thrombus. After removal of the CVC a voluminous thrombus in the right atrium persisted. The profibrinolytic factor's concentration was normal, and so we preferred to use aspirin, the most common antiplatelet agent, combined with antibiotic and antimycotis therapy. This treatment allowed us to observe the disappearance of the thrombus by 25 days.

[Characteristics of 86 infants' cluster with A.L.T.E. (Apparent Life-Threatening Event): similarities and differences versus main risk factors for SIDS]. / Caratteristiche di un campione di 86 lattanti A.L.T.E.: analogie e differenze con i principali fattori di rischio per SIDS.

In this study we have gathered 86 ALTE infants' characteristics about physiological, familiar, remote and near pathological case history, modality of apnoea episode's presentation, environmental and behavioural conditions of babies and we have compared these ones with main risk factors for SIDS to find possible similarities or differences. Many of the already known differences or similarities between ALTE and SIDS have been confirmed by our data and new ones have been observed. So we can say that the association between ALTE and SIDS remains contrasting because beside undiscussed factors of association there are other ones which differentiate the two Syndromes.

[Analysis of risk factors for SIDS: experience at a referral center]. / Analisi dei fattori di rischio per SIDS: esperienza in un centro di riferimento.

The aim of this research is to value, with a questionnary for the families, epidemiologic aspects in 20 children died for SIDS. The risk factors we have considered regard: ambiental condition, pregnancy, neonatal and post-neonatal period, and modality of death. The result is that sleeping position, child's age and month in which the death happens, are still the most significant risk factors for SIDS.

Safety and immunogenicity of a conjugate vaccine against Haemophilus influenzae type b in splenectomized and nonsplenectomized patients with Cooley anemia.

Patients with thalassemia are at increased risk for infections, especially after undergoing splenectomy. Vaccinations and antimicrobial prophylaxis are recommended in these patients, but the optimal immunization schedule for Haemophilus influenzae type b (Hib) vaccine is unknown. The immunogenicity of a conjugate Hib vaccine was investigated in 57 patients with thalassemia, 32 of whom had undergone splenectomy. Anti-capsular antibodies to Hib (anti-polyribosylribitol phosphate) were measured before vaccination and 2, 6, 12, 24, and 36 months after vaccination. Immunization was well tolerated. All patients achieved protective (>1 microg/mL) antibody levels. Antibody titers declined after the initial postvaccination increase, becoming undetectable in 4 patients and decreasing to concentrations of 0.15-1 microg/mL in another 2 patients when tested 2-3 years after vaccination. Hib conjugate vaccine is safe and immunogenic in patients with thalassemia major; however, additional studies are needed to assess the need and timing of booster vaccination to maintain long-term immunity.

Performance of forced expiratory manoeuvre in children.

The negative expiratory pressure (NEP) method has been previously used to assess the performance of forced vital capacity (FVC) manoeuvre in normal adults. The aim of the present study is to assess whether flow limitation is achieved during FVC manoeuvres in children aged 6-14 yrs. NEP (-10 cmH2O) was successfully applied in 177 normal children, the portion of FVC over which expiratory flow did or did not change with NEP being taken as effort-dependent and effort-independent, respectively. In all children peak expiratory flow (PEF) and forced expiratory volume in one second (FEV1) increased with NEP, indicating that PEF was in the effort-dependent portion of FVC. This portion decreased significantly with age (50-20% of FVC from 6-14 yrs). It is suggested that this mainly reflects the poorer coordination of specialized motor acts in younger children because of incomplete morphological and functional maturation of the relevant central nervous system (CNS) mechanisms. The results indicate that most unexperienced children aged 6-14 yrs can perform acceptable forced vital capacity manoeuvres, eventually achieving flow limitation over a portion of the forced vital capacity that increases with age. The negative expiratory pressure method can be used for online assessment of the performance of forced vital capacity manoeuvres and evaluation of treatment-related effects.

Thromboembolic events in beta thalassemia major: an Italian multicenter study.

Thromboembolic (TE) events have been frequently reported in beta-thalassemic patients in association with known risk factors such as diabetes, complex cardiopulmonary abnormalities, hypothyroidism, liver function anomalies, and postsplenectomy thrombocytosis. In a recent survey involving 9 Italian thalassemic centers, we identified 32 patients with TE episodes in a total of 735 subjects, of whom 683 had thalassemia major and 52 thalassemia intermedia, corresponding to 3.95 and 9.61%, respectively. There was a great variation in localization: the main one (16/32) was CNS, with a clinical picture of headache, seizures and hemiparesis. Other localizations were the pulmonary (3 patients), mesenteric (1 patient) and portal (2 patients) sites. There were 6 cases of deep venous thrombosis (2 in the upper limbs, 4 in the lower ones). Intracardiac thrombosis was found in 2 subjects and clinical and laboratory signs of DIC were observed in 2 others during pregnancy. Since our patients with TE events present a statistically significantly higher incidence of associated dysfunction (cardiomyopathy, diabetes, liver function anomalies, hypothyroidism) than those without TE events (50 vs. 13.8%), we suggest close monitoring of those patients who are at higher risk of developing TE events because of the presence of one or more of these predisposing factors.