Pediatric Highly Intensive Care Unit

Pediatric Highly Intensive Care Unit

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Stringari G.,Charité - Medical University of Berlin | Stringari G.,University of Parma | Tripodi S.,Sandro Pertini Hospital | Caffarelli C.,University of Parma | And 32 more authors.
Journal of Allergy and Clinical Immunology | Year: 2014

Background Sensitization to profilins and other cross-reacting molecules might hinder proper specific immunotherapy (SIT) prescription in polysensitized patients with pollen-related allergic rhinitis (AR). In these patients, component-resolved diagnosis (CRD) might modify SIT prescription by improving the identification of the disease-eliciting pollen sources. Objectives We sought to measure the effect of CRD on SIT prescription in children with pollen-related AR. Methods Children (n = 651) with moderate-to-severe pollen-related AR were recruited between May 2009 and June 2011 in 16 Italian outpatient clinics. Skin prick test (SPT) reactivity to grass, cypress, olive, mugwort, pellitory, and/or Betulaceae pollen was considered clinically relevant if symptoms occurred during the corresponding peak pollen season. IgE sensitization to Phl p 1, Phl p 5, Bet v 1, Cup a 1, Art v 1, Ole e 1, Par j 2, and Phl p 12 (profilin) was measured by using ImmunoCAP. SIT prescription was modeled on SPT responses first and then remodeled considering also CRD according to GA2LEN-European Academy of Allergology and Clinical Immunology guidelines and the opinions of 14 pediatric allergists. Results No IgE to the respective major allergens was detected in significant proportions of patients with supposed clinically relevant sensitization to mugwort (45/65 [69%]), Betulaceae (146/252 [60%]), pellitory (78/257 [30%]), olive (111/390 [28%]), cypress (28/184 [15%]), and grass (56/568 [10%]). IgE to profilins, polcalcins, or both could justify 173 (37%) of 464 of these SPT reactions. After CRD, the SPT-based decision on SIT prescription or composition was changed in 277 (42%) of 651 or 315 (48%) of 651 children according to the European or American approach, respectively, and in 305 (47%) of 651 children according to the opinion of the 14 local pediatric allergists. Conclusions In children with pollen-related AR, applying CRD leads to changes in a large proportion of SIT prescriptions as opposed to relying on clinical history and SPT alone. The hypothesis that CRD-guided prescription improves SIT efficacy deserves to be tested. © 2014 American Academy of Allergy, Asthma and Immunology.


Negri G.,University of Milan | Milani D.,Pediatric Highly Intensive Care Unit | Colapietro P.,University of Milan | Forzano F.,Medical Genetics | And 13 more authors.
Clinical Genetics | Year: 2015

Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ~55% and ~3-5% of affected individuals, respectively. To date, only eight EP300-mutated RSTS patients have been described and 12 additional mutations are reported in the database LOVD. In this study, EP300 analysis was performed on 33 CREBBP-negative RSTS patients leading to the identification of six unreported germline EP300 alterations comprising one deletion and five point mutations. All six patients showed a convincing, albeit mild, RSTS phenotype with minor skeletal anomalies, slight cognitive impairment and few major malformations. Beyond the expansion of the RSTS-EP300-mutated cohort, this study indicates that EP300-related RSTS cases occur more frequently than previously thought (~8% vs 3-5%); furthermore, the characterization of novel EP300 mutations in RSTS patients will enhance the clinical practice and genotype-phenotype correlations. © 2015 John Wiley & Sons A/S.


Spena S.,University of Milan | Milani D.,Pediatric Highly Intensive Care Unit | Rusconi D.,University of Milan | Negri G.,University of Milan | And 12 more authors.
Clinical Genetics | Year: 2015

The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 RSTS patients, all carriers of CREBBP point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype-phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in RSTS diagnosis, now could be considered. Some suggested correlations between organ-specific anomalies and affected CREB-binding protein domains broaden the RSTS clinical spectrum and perhaps will enhance patient follow-up and clinical care. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


PubMed | Childrens Hospital V Buzzi, Marche Polytechnic University, Marmara University, University of Milan Bicocca and 6 more.
Type: Journal Article | Journal: Clinical genetics | Year: 2015

The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 RSTS patients, all carriers of CREBBP point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations. Bioinformatic tools and transcript analyses were used to predict the functional effects of missense and splicing alterations. Of the 45 mutations, 42 are unreported and 3 were described previously. Recurrent mutations maybe a key tool in addressing genotype-phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in RSTS diagnosis, now could be considered. Some suggested correlations between organ-specific anomalies and affected CREB-binding protein domains broaden the RSTS clinical spectrum and perhaps will enhance patient follow-up and clinical care.


Milani D.,Pediatric Highly Intensive Care Unit | Cerutti M.,Pediatric Highly Intensive Care Unit | Pezzani L.,Pediatric Highly Intensive Care Unit | Maffei P.,University of Padua | And 2 more authors.
Italian Journal of Pediatrics | Year: 2014

Background: Although individual occurrence is rare, syndromic obesity with mental retardation has been reported in conjunction with 140 different diseases. Case presentation. The patient was born at term after a pregnancy complicated by threatened miscarriage. A diagnosis of Bardet-Biedl syndrome (BBS; OMIM #209900) was made in another hospital when she was 8 years old, but other clinical problems emerged subsequently. She came to our attention for the first time when she was 14 years old. The clinical picture, characterized by the presence of ophtalmological, renal, endocrinological, and liver disorders associated with a peculiar weight growth pattern, was more suggestive for Alström syndrome (ALMS; OMIM #203800); consequently, a genetic study was performed. Genetic analysis revealed a novel compound heterozygous frameshift mutation on exon 8 of ALMS1 (c. [3251-3258delCTGACCAG] and c. [6731delA]), which has not previously been described. Conclusion: Early onset of retinal degeneration associated with obesity represents a diagnostic challenge in paediatric and genetic practice, although the absence of skeletal abnormalities and developmental delay could help in addressing the clinical diagnosis. Confirmation of clinical suspicion by genetic analysis has been diriment in this case, since only a single gene is known to cause ALMS. © 2014 Milani et al.; licensee BioMed Central Ltd.


Dilena R.,Clinical Neurophysiology Unit | Strazzer S.,Scientific Institute E Medea | Esposito S.,Pediatric Highly Intensive Care Unit | Paglialonga F.,Pediatric Nephrology and Dialysis Unit | And 3 more authors.
Muscle and Nerve | Year: 2016

Introduction: Guillain-Barré syndrome (GBS) may rarely manifest as a peripheral locked-in syndrome. Methods: Clinical and instrumental features of a fulminant form of infantile GBS were assessed. Results: After 2 days of rhinitis, a 6-month-old infant was intubated in the emergency room for sudden-onset respiratory failure. Neurological examination showed generalized areflexic flaccid paralysis with no detectable interaction, which resembled a coma. Brain MRI was normal. Lumbar puncture showed pleocytosis (43 cells/mm3) and herpes simplex virus 1 (HSV1) PCR positivity. EEG showed normal sleep-wake cycles, and EMG demonstrated nerve inexcitability. Acyclovir and immunoglobulins provided no benefit. After 1 week, lumbar puncture showed albuminocytological dissociation (protein 217mg/dl). Plasmapheresis was then started, and progressive improvement occurred. At age 1 year, the child had recovered well with residual distal lower limb hyporeflexic weakness. Conclusions: A fulminant infantile GBS variant presenting as peripheral locked-in syndrome can be associated with HSV1 infection likely due to autoimmune cross-reactivity. © 2016 Wiley Periodicals, Inc.


PubMed | Clinical Neurophysiology Unit, Pediatric Highly Intensive Care Unit, Scientific Institute E Medea, Pediatric Nephrology and Dialysis Unit and University of Milan
Type: Case Reports | Journal: Muscle & nerve | Year: 2016

Guillain-Barr syndrome (GBS) may rarely manifest as a peripheral locked-in syndrome.Clinical and instrumental features of a fulminant form of infantile GBS were assessed.After 2 days of rhinitis, a 6-month-old infant was intubated in the emergency room for sudden-onset respiratory failure. Neurological examination showed generalized areflexic flaccid paralysis with no detectable interaction, which resembled a coma. Brain MRI was normal. Lumbar puncture showed pleocytosis (43 cells/mm(3)) and herpes simplex virus 1 (HSV1) PCR positivity. EEG showed normal sleep-wake cycles, and EMG demonstrated nerve inexcitability. Acyclovir and immunoglobulins provided no benefit. After 1 week, lumbar puncture showed albuminocytological dissociation (protein 217 mg/dl). Plasmapheresis was then started, and progressive improvement occurred. At age 1 year, the child had recovered well with residual distal lower limb hyporeflexic weakness.A fulminant infantile GBS variant presenting as peripheral locked-in syndrome can be associated with HSV1 infection likely due to autoimmune cross-reactivity.


Esposito S.,Pediatric Highly Intensive Care Unit | Principi N.,Pediatric Highly Intensive Care Unit
Expert Review of Vaccines | Year: 2014

Invasive meningococcal disease is a severe clinical condition which most commonly presents as sepsis or meningitis and can cause death or major long-term sequelae. Neisseria meningitidis serogroup B (MenB) is one of the major causes of invasive meningococcal disease. The availability of the complete genome sequence of a MenB strain led to the development of a four-component vaccine specific for this pathogen (4CMenB), which has been tested in animals and humans. 4CMenB is shown to be immunogenic in pediatric subjects and is effective in vitro for most of the different MenB strains. However, several problems must still be adequately solved before the vaccine can be universally recommended. Further studies are needed to evaluate the vaccine's coverage over time, duration of protection, the immunogenicity of a simplified administration scheme, and the real incidence of severe rare adverse events. In addition, the effect of 4CMenB on MenB carriers and its cost-effectiveness ratio are needed to more completely describe the characteristics of this vaccine. © Informa UK, Ltd.


Esposito S.,Pediatric Highly Intensive Care Unit | Bosis S.,Pediatric Highly Intensive Care Unit | Pinzani R.,Pediatric Highly Intensive Care Unit | Morlacchi L.,Pediatric Highly Intensive Care Unit | And 2 more authors.
Italian Journal of Pediatrics | Year: 2013

Background: The development of neurological complications due to varicella zoster virus (VZV) reactivation is relatively uncommon, particularly in the case of immunocompetent patients. Only a few cases have been described in the literature, most of which involved adult or elderly patients. Clinical presentation. Two days after his pediatrician had diagnosed herpes zoster and prescribed oral acyclovir 400 mg three times a day, a 14-year-old boy was admitted to our hospital because of mild fever, severe headache, slowness, drowsiness and vomiting. A cerebrospinal fluid examination was performed and showed an increased protein concentration (95 mg/dL), normal glucose level (48 mg/dL; blood glucose level, 76 mg/dL) and lymphocytic pleocytosis (1,400 lymphocytes/μL), and VZV DNA was detected by means of polymerase chain reaction (1,250 copies/mL). The results of immunological screening for HIV, lymphocyte subpopulation counts, serum immunoglobulin and complement (C3 and C4) levels, vaccine responsiveness and lymphocytes stimulation tests were unremarkable. Acyclovir was administered intravenously at a dose of 10 mg/kg three times a day and continued for 10 days. The therapy was highly effective and the patient's clinical condition rapidly improved: fever disappeared after two days, and all of the signs and symptoms of neurological involvement after four days. The skin lesions resolved in about one week, and no pain or dysesthesia was ever reported. Given the favourable evolution of the illness, the child was discharged without further therapy after the 10-day treatment. The findings of a magnetic resonance examination immediately after the discontinuation of the antiviral therapy were normal, and a control examination carried out about four weeks later did not find any sign or symptom of disease. Conclusion: VZV reactivation can also lead to various neurological complications in immunocompetent children. Prompt therapy with acyclovir and the integrity of the immune system are important in conditioning outcome, but other currently unknown factors probably also play a role. © 2013 Esposito et al.; licensee BioMed Central Ltd.


Marchisio P.,Pediatric Highly Intensive Care Unit | Tagliabue M.,University of Pavia | Klersy C.,University of Pavia | Mira E.,University of Pavia | And 5 more authors.
Expert Review of Anti-Infective Therapy | Year: 2014

Objective: To evaluate whether physicians follow current guidelines for managing acute otitis media (AOM) and whether educational programs are needed to improve knowledge of AOM treatment among paediatricians (PEDs) and otolaryngologists (ENTs) Methods: A total of 1270 PEDs and 852 ENTs were randomly selected and interviewed with an anonymous questionnaire about how they managed AOM. Results: Inappropriate AOM approaches were identified among 60.2% of PEDs and 88.5% of ENTs (p < 0.001). Amoxicillin and amoxicillin with clavulanic acid were appropriately chosen as first-line drugs by the majority of PEDs and ENTs, although significantly more ENTs reported otherwise (15.8% PEDs vs 25.5% ENTs; p < 0.001). ENTs were significantly more likely than PEDs to report prescribing decongestants, mucolytics, anti-inflammatory drugs, and steroids (p < 0.001). Conclusion: These results show that AOM prescriptions for antibiotics and adjunctive treatments are often inappropriate and highlight the need for educational strategies aimed at PEDs and ENTs to improve their compliance with evidence-based guidelines for AOM treatment. © 2014 Informa UK, Ltd.

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