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ABSTRACT: Food protein-induced enterocolitis syndrome (FPIES) is an uncommon and potentially severe non IgE-mediated gastrointestinal food allergy. It is usually caused by cow's milk or soy proteins, but may also be triggered by ingestion of solid foods. The diagnosis is made on the basis of clinical history and symptoms. Management of acute phase requires fluid resuscitation and intravenous steroids administration, but avoidance of offending foods is the only effective therapeutic option.Infant with FPIES presented to our emergency department with vomiting, watery stools, hypothension and metabolic acidosis after ingestion of rice beverage. Intravenous fluids and steroids were administered with good clinical response. Subsequently, a double blind placebo control food challenge (DBPCFC) was performed using rice beverage and hydrolyzed formula (eHF) as placebo. The "rice based formula" induced emesis, diarrhoea and lethargy. Laboratory investigations reveal an increase of absolute count of neutrophils and the presence of faecal eosinophils. The patient was treated with both intravenous hydration and steroids. According to Powell criteria, oral food challenge was considered positive and diagnosis of FPIES induced by rice beverage was made. Patient was discharged at home with the indication to avoid rice and any rice beverage as well as to reintroduce hydrolyzed formula. A case of FPIES induced by rice beverage has never been reported. The present case clearly shows that also beverage containing rice proteins can be responsible of FPIES. For this reason, the use of rice beverage as cow's milk substitute for the treatment of non IgE-mediated food allergy should be avoided.
Italian Journal of Pediatrics 05/2013; 39(1):31.
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Pediatric Allergy and Immunology 09/2012; · 2.46 Impact Factor
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ABSTRACT: Food allergy is an increasingly prevalent disease in western countries, but an effective form of therapy has not yet been found. A specific active treatment for immunoglobulin E (IgE)-mediated food allergy is currently under study in human clinical trials. Allergen-specific approaches include oral, sublingual and epicutaneous immunotherapy. Currently, reports on oral immunotherapy (OIT) have been more extensive than reports on other routes such as sublingual immunotherapy (SLIT) and epicutaneous patch. The aim of OIT using foods, especially milk and egg--the cause of most common allergies in infants and young children in Europe--is the achievement of desensitization or tolerance by patients suffering from food allergy. Treatment protocols have been initiated in highly supervised research settings with the goal of finding an active treatment against IgE-mediated food allergy. The preliminary data on OIT are encouraging, and among the plethora of novel approaches the strategies most likely to advance into clinical practice include both OIT and SLIT. It is still unclear whether oral desensitization is only the first step toward permanent desensitization or whether it induces only a transient tolerance. Longer duration of desensitization may result in permanent tolerance. The occurrence of adverse events or reactions during OIT is quite frequent and has been reported in all published studies. Therefore, before this treatment can be used in clinical practice additional studies are needed. Currently, immunotherapy for cow's milk or egg allergies is a novel approach that expands the possibility of an active treatment to improve the quality of life of patients and their families.
The Israel Medical Association journal: IMAJ 01/2012; 14(1):53-6. · 1.02 Impact Factor
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ABSTRACT: Spinal muscular atrophy with respiratory distress (SMARD 1) is a very rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, symmetrical distal muscular weakness, muscle atrophy, peripheral sensory neuropathy and autonomic nerve dysfunction. SMARD 1 is inherited as an autosomal recessive trait and the mutations have been identified in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2), located on chromosome 11q13. It is considered a fatal form of infantile motoneuron disease and most of the patients dies within the first 13 months of life. We present a female child with genetically confirmed SMARD 1 displaying a mild phenotype and no severe signs of respiratory involvement, typically found in this form, up to 38 months despite a diaphragmatic palsy diagnosed at 6 months of age. Therefore, our clinical observation suggests that respiratory failure is not secondary, in any case, to the diaphragmatic palsy but other pathogenetic mechanisms might be involved.
European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 11/2011; 16(1):90-4. · 2.01 Impact Factor
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ABSTRACT: Pre-seasonal, pre-coseasonal and continuous regimens of immunotherapy have been proposed, but their efficacy was never compared. This phase IV open study was designed to compare the clinical efficacy of a continuous and a coseasonal sublingual immunotherapy (SLIT) for grass allergy over 3 years.
Children with rhinitis/asthma because of grass were randomized to SLIT given continuously (all year long) or coseasonally. The treatment started in October 2005 in the continuous SLIT group and in March 2006 in the coseasonal group Diary cards for clinical symptoms (from 0 = none to 3 = severe), and drug intake were recorded form March to June in 2005 (baseline), 2006 2007, and 2008. Specific IgE and IgG4 were evaluated every year.
Eighty children (age range 8-16) were randomized and 72 completed the study. In the first year, the symptom + medication score improved by 44% in the continuous group and by 20% in the coseasonal group (p = 0.04). Symptoms, chest symptoms, and drug intake separately showed a greater decrease vs. baseline in the continuous group. In the second year, the global score decreased in both groups with no significant difference, whereas symptom score decreased more in the continuous group. In the 3rd year, there was no difference in clinical parameters between the two groups. Specific IgG4 were significantly higher vs. baseline since the 1st year in the continuous group and since the 2nd in the coseasonal group.
In grass pollen allergy, the continuous regimen performs better than the coseasonal in the first season, whereas in the subsequent years, the two regimens are nearly equivalent.
Pediatric Allergy and Immunology 09/2011; 22(8):803-7. · 2.46 Impact Factor
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Journal of Paediatrics and Child Health 08/2011; 47(8):572. · 1.28 Impact Factor
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ABSTRACT: Previous studies on menarcheal age (MA) in type 1 diabetes mellitus (T1DM) have shown conflicting results about the effects of DM, but most lack a control group. The present study design is peculiar in that it covers a study population of 73 intensively treated menarcheal adolescents with premenarcheal onset of T1DM (Group A), whose MA was compared with that recorded in three control populations: the first one consisting of 280 healthy adolescents, the second one consisting of 20 T1DM adolescents with postmenarcheal DM onset (Group B) and the third one represented by the respective mothers.
MA of Group A patients was significantly delayed when compared with the respective mothers, healthy controls and Group B patients. By contrast MA of Group B girls was superimposable to the one of both their respective mothers and healthy controls. In Group A MA was strongly related (p<0.0005) to HbA1c at the time of menarche and to average HbA1c concentrations during the last years before menarche. In Group A no relationship between patients' and mothers' MAs was found, whilst such a correlation was significant in Group B.
(a) MA is significantly delayed in girls with premenarcheal presentation of T1DM, even if intensively treated; (b) menarcheal retardation is more severe in the patients with suboptimal metabolic control at the time of menarche; and (c) MA in premenarcheal presenting T1DM is irrespective of maternal MA, age and HbA1c concentrations at DM presentation, body mass index and daily insulin dose at menarche.
Nutrition, metabolism, and cardiovascular diseases: NMCD 06/2008; 19(1):35-8. · 3.52 Impact Factor
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ABSTRACT: INTRODUCTION: We report the clinical and immunological features of the autoimmune regulator gene (AIRE) in two Sicilian brothers with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). They were compound heterozygotes with R203X/R257X. Both had oral candidiasis since the first year of life and later developed hypoparathyroidism and Addison disease. The elder brother had experienced recurrent lower respiratory infections since 5 years of age and over the years developed severe obstructive lung disease with bronchiectasis, which led to death at 18 years of age. Both brothers had circulating autoantibodies against tryptophan hydroxylase and serotonin-producing cells were absent in the duodenal mucosa. This was associated with intestinal dysfunction in only the elder brother. CONCLUSION: (1) In the first Sicilian family with APECED reported up to now we found a heterozygous mutation that had been previously reported only once. (2) In the older brother of this family we observed a severe and lethal lung disease; this case adds to a growing literature describing this association between APECED and respiratory illnesses. (3) Tryptophan hydroxylase antibodies might be hypothesized to be the marker of an autoimmune gastrointestinal illness possibly associated with APECED.
European Journal of Pediatrics 03/2008; 167(11):1283-8. · 1.88 Impact Factor
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ABSTRACT: Cow milk allergy is a common disease of infancy, often associated with atopic dermatitis (AD). Avoidance of cow milk (CM) implies the use of alternative dietary supports such as mammalian milks. In this study, we assessed the tolerability and clinical effect of ass's milk (AM), when compared with the largely used goat's milk (GM) in a single-blind, controlled, randomized crossover. Twenty-eight children with AD and ascertained allergy to CM were enrolled. The children were randomized to AM or GM for 6 months, then switched to the other milk for further 3 months. The SCORAD index (SI) and a visual analog scale (VAS) were evaluated blindly. After termination of the study, food challenges with GM and AM were performed. An SDS-PAGE analysis of different milks was performed. Two children from the GM group dropped out after randomization and 26 completed the study. Ass milk invariantly led to a significant improvement of SI and VAS of symptoms (p < 0.03 vs. baseline and inter-group), whereas GM had no measurable clinical effect. At the end of the study 23 of 26 children had a positive food challenge with GM and one of 26 with AM. Ass's milk had a protein profile closer to human milk than GM. Ass milk is better tolerated and more effective than GM in reducing symptoms of AD. It may represent a better substitute of CM than the currently used GM.
Pediatric Allergy and Immunology 11/2007; 18(7):594-8. · 2.46 Impact Factor
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European Journal of Pediatrics 02/2007; 166(1):73-4. · 1.88 Impact Factor
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ABSTRACT: Chryseobacterium indologenes is a non-fermentative Gram-negative bacillus that is a rare pathogen in humans. Its occurrence in diabetic children has not been previously reported. In this report, a case is described of C. indologenes bacteraemia possibly associated with the use of a peripheral venous catheter. A 2-year-old boy with type I diabetes mellitus was admitted due to a coma caused by cerebral oedema and was successfully treated for his neurological condition but presented on the tenth day after admission with fever of 40 degrees C, agitation, restlessness, lack of appetite, somnolence and fatigue. His pulse rate was 90 min(-1) and his respiratory rate was 20 min(-1). Laboratory studies revealed a white blood cell count of 4900 mm(-3) with 67% neutrophils and 27% lymphocytes. Two separate blood cultures yielded C. indologenes. Treatment with ceftriaxone was started before the culture results were obtained, and was continued after susceptibility test results were obtained. The patient became afebrile after 48 h, and his general condition improved within 36 h. The infection did not recur. This is believed to be the third case of bacteraemia outside of Asia due to C. indologenes and the first in a diabetic child not otherwise immunocompromised. This case indicates that C. indologenes infection can occur in diabetic children without ventilator or central venous catheter and might be treated with a single agent after in vitro susceptibility tests have been performed.
Journal of Medical Microbiology 08/2005; 54(Pt 7):677-80. · 2.50 Impact Factor
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ABSTRACT: To ascertain the incidence of testicular microlithiasis (TM) in boys with McCune-Albright syndrome (MAS).
Study population consisted of 8 boys with MAS whose medical records were reviewed with emphasis on their past genitourinary histories. All of the boys underwent a clinical and ultrasonographic (US) scanning of the scrotal and inguinal regions. US results in boys with MAS were compared with those obtained in two control populations consisting of 20 healthy subjects and 12 boys with idiopathic and untreated central precocious puberty (CPP).
Clinical examination revealed urological abnormalities in no patients, whereas US showed a typical picture of TM in 5 of 8 boys. TM was observed in none of the subjects belonging to control populations (v=15.2 and 11.3, respectively; P <.001).
In a series of 8 boys with MAS we demonstrated a high prevalence (62%) of TM that was associated with neither malignant nor nonmalignant conditions. This finding is unlikely to be only occasional, considering the very low prevalence of TM reported until now in healthy children and young adults and in our results in control populations. TM may be another marker for MAS.
Journal of Pediatrics 11/2004; 145(5):670-2. · 4.11 Impact Factor
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ABSTRACT: In order to ascertain the advantages of early GH treatment in Turner syndrome (TS), we started a prospective study aimed at evaluating prepubertal height gain in a cohort of 29 girls who were treated with the same pro-kilo GH dose (1.0 IU/kg per week) since they were less than 6 years old and for at least 5 years before entering puberty.
Following a minimum of 6 months of baseline observations, 29 girls with TS were enrolled for this prospective study provided that they (a) were less than 6 years old, (b) were below -1.0 standard deviation score (SDS) for height, (c) had a projected adult height (PAH) lower than the respective target height (TH) and (d) had a height velocity (HV) lower than -1.0 SDS. All the selected girls underwent a 5-year treatment with biosynthetic GH at a stable dose of 1.0 IU/kg per week and were periodically measured during the treatment period in order to evaluate height, HV and PAH.
After a dramatic acceleration during the 1st year, HV was attenuated during the subsequent years, reaching its nadir at the 5th year. Height deficiency under therapy progressively decreased from entry onwards, shifting from -2.4+/-0.7 to -1.0+/-1.2 SDS. In the same period, mean PAH progressively increased, although after 5 years it remained lower than the average TH.
(a) An effective growth-promoting strategy in TS should be based on early GH treatment, as suggested by our results. (b) This strategy could result in a prepubertal normalization of height, thus allowing the appropriate timing for the induction of puberty. (c) An initial GH dose of 1.0 IU/kg per week may be suitable during the first years of therapy, as shown by our data documenting an important waning effect of GH therapy only after the 4th year of treatment. (d) No acceleration of bone maturation was observed under this treatment regimen.
European Journal of Endocrinology 11/2004; 151(5):567-72. · 3.42 Impact Factor
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The Pediatric Infectious Disease Journal 09/2003; 22(8):755-6. · 3.58 Impact Factor
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ABSTRACT: The aim of this retrospective study was to ascertain, whether an early growth hormone (GH) treatment can normalize height prognosis of children with congenital GH deficiency (GHD). The study covers 23 children with early onset GHD who received GH 0.1 U/kg/day from the beginning of therapy (0.4-4.9 years). This dose was corrected for weight every 3 months during the whole duration of treatment (X 7.9 ± 2.4 years). As a consequence of the significant growth acceleration induced by GH treatment, the patients’ height deficiency at the last check had changed from a range of between -8.0 and -1.8 SDS to between +0.5 and -4.3 SDS; on the average, it was significantly less severe than before treatment. Satisfactory growth acceleration was achieved in most patients concomitantly with accelerated bone maturation, as was shown by the stable height age/bone age ratio observed during the follow-up period. The predicted ultimate height was significantly greater than the pretreatment height and it did not differ from the target height. It is concluded that catch-up growth to the target percentile in GHD patients is possible, provided that substitutive treatment is begun during the first years of life and that GH doses are adjusted periodically for weight changes.
Hormone Research in Paediatrics 08/1970; 44(3):26-31.
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Michele Buemi,
Chiara Caccamo,
Fulvio Floccari,
Giuseppe Coppolino,
Donatella Tripodo,
Maria Stella Giacobbe,
Massimino Senatore,
Carmela Aloisi,
Antonella Ruello,
Alessio Sturiale,
Riccardo Ientile, Giuseppe Crisafulli,
Salvatore Coppolino,
Antonino Villari,
Nicola Frisina
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ABSTRACT: The Short Form 36 Health Survey (SF-36) is a self-administered scoring system that has been widely used and validated as a quality of life (QOL) assessment tool. In our study, a cluster analysis of SF-36 scores was performed in 50 healthy volunteers (controls) and 50 neurobiologically asymptomatic patients on maintenance hemodialysis (MHD). Firstly, we assayed the tendency to form clusters from each of the investigated dimensions. Statistic analysis was performed using the Student's t-test for independent measurements and multiple regression analysis. Secondly, we attempted to evaluate if the MHD to apply to both groups a general psychobiological personality model developed by Cloninger in 1987. Cloninger describes three independent personality dimensions: novelty seeking (NS), harm avoidance (HA)and reward dependence (RD). Each personality dimension would be the expression of hereditary variations integrating the three main brain systems, respectively: dopaminergic, serotoninergic and noradrenergic. Finally, we then aimed to investigate possible interferences among the seric concentrations of the neuromodulators and SF-36 scores, in the attempt to identify, using a simple approach, the complex personality structure of MHD patients. QOL self-assessment and seric neuromodulators were measured in both groups, choosing an interdialytic day for MHD patients. We found that MHD patients perceived a significant worsening in their QOL in all investigated dimensions with respect to the controls. In addition, they showed significantly lower dopamine and serotonine concentrations and significantly higher noradrenaline concentrations. Therefore, our study, confirmed data reported previously in the literature, that cluster analysis of SF-36 scores provides different results in the MHD population in comparison to normal subjects. In fact, comparing the hierarchical trees of both groups, it appeared evident that in MHD patients, cluster dimensions were greater than in the controls. In cluster compositions showed differences between the two groups. In fact, in MHD patients there were only a few of the clusters that were observed in the controls (mental health and social functioning, vitality and general health), while role-physical and role-emotional dimensions aligned outside the hierarchical tree, with a considerable linkage distance. In our opinion, it is fascinating that the three Cloninger neuromodulators could suggest that HD patient personalities are potentially cyclothymiac, altering the disposition of the two role functions inside the hierarchical tree.
Journal of nephrology 16(6):895-902. · 1.65 Impact Factor
