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1.
Acta Neurol Scand ; 137(6): 575-581, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29363096

RESUMEN

OBJECTIVE: To define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome. MATERIAL AND METHODS: The electroclinical data of 45 patients (25 males) affected by inv dup (15) and seizures were retrospectively analysed, and long-term follow-up of epilepsy was evaluated. RESULTS: Epilepsy onset was marked by generalized seizures in 53% of patients, epileptic spasms in 51%, focal seizures in 26%, atypical absences in 11% and epileptic falls in 9%. The epileptic syndromes defined were: generalized epilepsy (26.7%), focal epilepsy (22.3%), epileptic encephalopathy with epileptic spasms as the only seizure type (17.7%) and Lennox-Gastaut syndrome (33.3%). Drug-resistant epilepsy was detected in 55.5% of patients. There was a significant higher prevalence of seizure-free patients in those with seizure onset after the age of 5 years and with focal epilepsy, with respect to those with earlier epilepsy onset because most of these later developed an epileptic encephalopathy (69.2% vs 34.4%; P = .03), usually Lennox-Gastaut Syndrome in type. In fact, among patients with early-onset epilepsy, those presenting with epileptic spasms as the only seizure type associated with classical hypsarrhythmia achieved seizure freedom (P < .001) compared to patients with spasms and other seizure types associated with modified hypsarrhythmia. CONCLUSIONS: Epilepsy in inv dup (15) leads to a more severe burden of disease. Frequently, these patients show drug resistance, in particular when epilepsy onset is before the age of five and features epileptic encephalopathy.


Asunto(s)
Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/fisiopatología , Electroencefalografía/tendencias , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Adolescente , Niño , Cromosomas Humanos Par 15 , Estudios de Cohortes , Electroencefalografía/métodos , Femenino , Humanos , Masculino , Estudios Retrospectivos , Convulsiones/fisiopatología , Factores de Tiempo , Resultado del Tratamiento
2.
J Biol Regul Homeost Agents ; 31(1): 195-200, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28337892

RESUMEN

Idiopathic intracranial hypertension (IIH) is a disorder of unknown origin, which is characterized by elevated intracranial pressure (ICP) without underlying etiological evidence of neurological disease. The purpose of the current study was to evaluate epidemiological features, clinical presentation, diagnostic findings and treatment of sixteen children (7 males and 9 females) with IIH. Medical records of the patients were obtained from the University Paediatric Hospital of Catania, Italy. Clinical features, investigations and treatment approaches were retrieved. The mean age of the sixteen children at onset of symptoms was 9 years (range: 4 to 16 years). Most of the patients were classified as pre-pubertal. Mean BMI was 28.9 kg/m2. In 93.75% of patients headache was the presenting clinical symptom; and in the same percentage papilledema was detected as the accompanied sign during diagnostic flow-chart. The mean lumbar puncture opening pressure (LPOP) was 350 mm H2O. Fifty percent of the cases had normal brain imaging, while 12.5% showed enlarged optic nerve diameter and one patient had an intraocular protrusion of the optic nerve on MRI. Two patients (12.5%) had venous sinus stenosis, and one case showed an abnormal spinal MRI. With regard to therapeutic approaches, 93.75% of the cases were successfully treated with Acetazolamide. None of the patients required surgical procedures, and all neuroimaging findings disappeared after receiving treatment. In the present study we investigated the association of IIH with venous sinus stenosis. We also found ocular ultrasound to be a useful non-invasive alternative method for determining papilledema in paediatric IIH, specifically in an emergency.


Asunto(s)
Constricción Patológica/diagnóstico por imagen , Cefalea/diagnóstico por imagen , Hipertensión Intracraneal/diagnóstico por imagen , Papiledema/diagnóstico por imagen , Acetazolamida/uso terapéutico , Adolescente , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Constricción Patológica/tratamiento farmacológico , Constricción Patológica/epidemiología , Constricción Patológica/patología , Senos Craneales/diagnóstico por imagen , Senos Craneales/efectos de los fármacos , Senos Craneales/patología , Femenino , Cefalea/tratamiento farmacológico , Cefalea/epidemiología , Cefalea/patología , Humanos , Hipertensión Intracraneal/tratamiento farmacológico , Hipertensión Intracraneal/epidemiología , Hipertensión Intracraneal/patología , Imagen por Resonancia Magnética , Masculino , Neuroimagen , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/efectos de los fármacos , Nervio Óptico/patología , Papiledema/tratamiento farmacológico , Papiledema/epidemiología , Papiledema/patología , Estudios Retrospectivos , Punción Espinal , Resultado del Tratamiento
3.
Eur J Neurol ; 23(2): 241-6, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26498733

RESUMEN

BACKGROUND AND PURPOSE: Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes. METHODS: This was a retrospective analysis of the long-term outcome of epilepsy in 129 patients with COE-G who were referred to 23 Italian epilepsy centres and one in Austria between 1991 and 2004. Patients were evaluated clinically and with electroencephalograms for 10.1-23.0 years. The following clinical characteristics were evaluated: gender, patient age at seizure onset, history of febrile seizures and migraine, family history of epilepsy, duration and seizure manifestations, circadian distribution and frequency of seizures, history of medications including the number of drugs, therapeutic response and final outcome. RESULTS: Visual hallucinations were the first symptom in 62% and the only manifestation in 38.8% of patients. Patients were subdivided into two groups: group A with isolated COE-G; group B with other epileptic syndromes associated with COE-G. The most significant (P < 0.05) difference concerned antiepileptic therapy: in group A, 45 children responded to monotherapy; in group B only 15 children responded to monotherapy. At the end of follow-up, the percentage of seizure-free patients was significantly higher in group A than in group B. CONCLUSIONS: Childhood occipital epilepsy of Gastaut has an overall favourable prognosis and a good response to antiepileptic therapy with resolution of seizures and of electroencephalogram abnormalities. The association of typical COE-G symptoms with other types of seizure could be related to a poor epilepsy outcome.


Asunto(s)
Anticonvulsivantes/farmacología , Síndrome de Lennox-Gastaut , Lóbulo Occipital/fisiopatología , Evaluación de Resultado en la Atención de Salud , Adolescente , Adulto , Austria , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , Lactante , Síndrome de Lennox-Gastaut/diagnóstico , Síndrome de Lennox-Gastaut/tratamiento farmacológico , Síndrome de Lennox-Gastaut/fisiopatología , Masculino , Pronóstico , Estudios Retrospectivos , Adulto Joven
4.
J Biol Regul Homeost Agents ; 30(2): 333-8, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27358118

RESUMEN

Headache can represent different disorders with different etiologies; including cardiac, cerebral, vascular, psychiatric, metabolic, neurologic diseases. Recent studies have highlighted that obesity is significantly associated with headache and disability in adults. This rule also applies to children. This review focuses on literature data studying any eventual relationship between headache, migraine and obesity [shown in Body Mass Index (BMI)] in children. Research data have highlighted that there is a relationship between headache physiopathology and central and peripheral mechanisms responsible for food assumption. In this regard, neurotransmitters such as serotonin, and peptides such as orexin and adipocytokines (adiponectin and leptin) seem to play a key role both in food assumption and in headache pathogenesis. These data further emphasize the potential association between headache and BMI. Therefore, those therapeutic strategies aiming to decrease BMI may represent a model of useful treatment to understand whether weight loss reduces the incidence and the severity of headache in obese children. In conclusion, considering the effects of obesity and weight loss on the natural history of headache, important changes are expected in therapeutic management of paediatric headaches.


Asunto(s)
Cefalea/etiología , Trastornos Migrañosos/etiología , Obesidad/complicaciones , Índice de Masa Corporal , Humanos , Trastornos Migrañosos/epidemiología , Obesidad/epidemiología , Prevalencia
5.
J Biol Regul Homeost Agents ; 30(4): 1217-1221, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-28078877

RESUMEN

Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD. Herein, the authors describe 16 cases of congenital muscular dystrophy (CMD) associated with different kinds of epileptic events, in order to study the pathogenic connection between the two clinical manifestations. In all described patients we reviewed the clinical, neurophysiologic, and neuroimaging data to determine any associations with epilepsy. The patients were divided into two groups: 14 cases with merosin positive CMD in one group and 2 patients with Walker Warburg syndrome (WWS) in the second group. In our study we found that in the first group, one benign myoclonic epilepsy (BME), one benign febrile convulsions had occurred. Also in one patient, the EEG revealed a moderately high voltage slow background with diffuse sharp waves reaching 300mV in amplitude with no clinical signs. In the merosin positive CMD patients, the presence of two different epileptic diseases, benign myoclonic epilepsy (BME) in one and febrile convulsion with tonic clinic seizures, may represent a new expression of merosine-positive congenital muscular disease (PCMD) in which the deficiency of an undiscovered muscular protein with a cerebral isoform may be the cause of epileptic events in this group of patients.


Asunto(s)
Distrofias Musculares/complicaciones , Convulsiones/epidemiología , Convulsiones/etiología , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , Incidencia , Lactante , Imagen por Resonancia Magnética , Masculino
6.
J Biol Regul Homeost Agents ; 30(2): 579-84, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27358151

RESUMEN

Immunoglobulin E (IgE) was discovered in 1966 and was found responsible for immune defense against helminths, type I hypersensitivity and allergic diseases. IgE mediates allergic responses by binding to Fc receptors (the high affinity Fc-epsilon receptor I and the low affinity Fc-epsilon receptor II or CD23) expressed on tissue mast cells and blood basophils. This binding leads to degranulation and release of pro-inflammatory mediators. Considering the pivotal role of IgE in allergic diseases, antibodies against IgE potentiate an array of new therapeutic strategies and in this regard omalizumab (rhuMAb-E25, Xolair) has been developed as a monoclonal biologic drug to block serum IgEs. Although the use of omalizumab has been studied vigorously in many adult populations with allergic diseases, there are few heterogenous studies on children. There are very few ongoing clinical trials with omalizumab exclusively on children, although some adult studies have concluded pediatric patients as a part of their studies. Nevertheless, in pediatric clinical trials omalizumab has been demonstrated to be effective and safe also in this age group. Herein, the authors present a systematic review of extensive literature data on the use of omalizumab in children and adolescents.


Asunto(s)
Antialérgicos/uso terapéutico , Omalizumab/uso terapéutico , Antialérgicos/efectos adversos , Asma/tratamiento farmacológico , Niño , Ensayos Clínicos como Asunto , Dermatitis Atópica/tratamiento farmacológico , Hipersensibilidad a los Alimentos/tratamiento farmacológico , Humanos , Omalizumab/efectos adversos , Urticaria/tratamiento farmacológico
7.
J Biol Regul Homeost Agents ; 30(4): 1137-1140, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-28078865

RESUMEN

The latest research data emphasize the interaction between the nervous and the immune systems. It has been demonstrated that the central nervous system (CNS) can be involved secondarily due to blood brain barrier (BBB) disruption via pro-inflammatory cytokines released in allergy. More recently it was demonstrated that the parasympathetic nervous system (PNS) could also be equally involved in models of peripheral inflammation such as food allergy; although this last clinical presentation has rarely been described. Herein, the authors report the case of a five-year-old Caucasian female who was admitted to our Pediatric Acute and Emergency Operative Unit for cyclic vomiting. Her vomiting, which was preceded by objective torque vertigo, headache and weakness, had been recurring with constant frequency every two months since she was 3 years old. After a complex diagnostic flow-chart, it was found that this spectrum of neurologic symptoms was due to a food allergy syndrome, which postulates some etiopathogenic hypotheses to explain the relationship between the two mentioned diseases.


Asunto(s)
Enfermedades del Sistema Nervioso Autónomo/inmunología , Hipersensibilidad a los Alimentos/complicaciones , Caseínas/efectos adversos , Caseínas/inmunología , Preescolar , Femenino , Cefalea/inmunología , Humanos , Solanum lycopersicum/efectos adversos , Solanum lycopersicum/inmunología , Debilidad Muscular/inmunología , Vértigo/inmunología , Vómitos/inmunología
8.
Clin Genet ; 87(5): 401-10, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25211147

RESUMEN

Spinal neurofibromatosis (SNF) is a related form of neurofibromatosis 1 (NF1), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical NF1. By rigorous application of these criteria to the 98 SNF cases published, we developed: (i) a cohort of 49 SNF patients (21 males and 28 females; aged 4-74 years]: 9 SNF families (21/49), 1 mixed SNF/NF1 family (1/49) and 27 of 49 sporadic SNF patients (including 5 unpublished patients in this report); and (ii) a group of 49 non-SNF patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (MNFSR): 4 mixed SNF/MNFSR families (6/32); (b) 14 patients with NF1 manifestations without spinal neurofibromas, belonging to SNF (8/49) or MNFSR families (6/32); (c) 3 patients with neurofibromas in one spinal root. In addition to reduced incidence of café-au-lait spots (67% in SNF vs 56% in MNFSR), other NF1 manifestations were less frequent in either cohort. Molecular testing showed common NF1 gene abnormalities in both groups. The risk of developing SNF vs NF1 was increased for missense mutations [p = 0.0001; odds ratio (OR) = 6.16; confidence interval (CI) = 3.14-13.11], which were more frequent in SNF vs MNFSR (p = 0.0271).


Asunto(s)
Neurofibromatosis/diagnóstico , Neurofibromatosis/genética , Diagnóstico Diferencial , Manejo de la Enfermedad , Progresión de la Enfermedad , Familia , Genes de Neurofibromatosis 1 , Estudios de Asociación Genética , Pruebas Genéticas , Humanos , Mutación , Neurofibromatosis/complicaciones , Fenotipo
9.
Allergol Immunopathol (Madr) ; 43(2): 196-202, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-24411097

RESUMEN

In the past few decades, the prevalence of allergic diseases has deeply increased, with a key role played by food allergies. Legumes seem to play a major role towards the overall increase in the scenario of food allergy, since they are an appreciated source, consumed worldwide, due to their high protein content, variable amounts of lipids and for the presence of vitamins. In literature there are numerous descriptions of adverse reactions after ingestion of uncooked and cooked legumes. Nevertheless, cases of allergic reactions induced by inhaling vapours from cooking legumes have rarely been described. Herein the authors report an update of the literature data on allergic reactions caused by legume steam inhalation, underlying the possible pathogenic mechanism of these atopic events and the knowledge of literature data in paediatric age. The importance of this review is the focus on the clinical aspects concerning legume vapour allergy, referring to literature data in childhood.


Asunto(s)
Culinaria , Hipersensibilidad a los Alimentos/inmunología , Vapor/efectos adversos , Alérgenos/inmunología , Animales , Niño , Reacciones Cruzadas , Fabaceae/inmunología , Humanos , Inhalación
10.
Int J Immunopathol Pharmacol ; 27(3): 371-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25280028

RESUMEN

Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus (PANDAS) is a well-defined syndrome in which tics (motor and/or vocal) and/or obsessive compulsive disorders (OCD) consistently exacerbate in temporal correlation to a Group A beta-haemolytic streptococcal infection. In children with PANDAS, there is speculation about whether tonsillectomy or adenotonsillectomy might improve the neuropsychiatric course. Our objective was to examine whether such surgery impacted remission or, in patients without remission, modified clinical course of the disease, streptococcal antibody titers, neuronal antibodies or clinical severity of Obsessive-Compulsive Disorder (OCD) and/or tics. Study participants (n = 120) with positive PANDAS criteria were recruited, examined, and divided into surgical or non-surgery groups. The surgical group consisted of children with tonsillectomy or adenotonsillectomy (n=56). The remaining children were categorized as non-surgery (n=64). Clinical follow-up was made every 2 months for more than 2 years. Surgery did not affect symptomatology progression, streptococcal and neuronal antibodies, or the clinical severity of neuropsychiatric symptoms in these children. In conclusion, in our series clinical progression, antibody production, and neuropsychiatric symptom severity did not differ on the basis of surgical status. We cannot uphold surgical management as likely to impact positive remission rates, course of OCD/tics, or antibody concentrations in children with PANDAS.


Asunto(s)
Enfermedades Autoinmunes/etiología , Trastorno Obsesivo Compulsivo/etiología , Infecciones Estreptocócicas/complicaciones , Streptococcus pyogenes , Tics/etiología , Tonsilectomía , Adenoidectomía , Niño , Femenino , Humanos , Masculino
11.
Eur Rev Med Pharmacol Sci ; 17(19): 2675-9, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24142617

RESUMEN

BACKGROUND: Congenital talipes equinovarus (CTEV) is a common but still not fully understood disorder of the lower limb. It is usually defined as a fixation of the foot in adduction, supination, and varus. Different treatment options exist including the Ponseti method. AIM: We report here the results obtained in infants with CTEV treated by the Ponseti method. PATIENTS AND METHODS: Eighty two patients (114 clubfeet) were enrolled at the Orthopaedic Clinic of Catania University during the period of March 2004 to January 2010 and followed prospectively up to February 2011: 56 patients (68.29%) were male, the anomaly was bilateral in 32 (39%) cases, unilateral in 50 (60.9%) in the right side in 28 (56%). The mean age at initiation of treatment was 14 days (range 3-81 days), severity of the club foot deformity by the Pirani Severity score was 5.56 points (range 4.3-6 points). Total numbers of Ponseti casts before tenotomy, details of tenotomy, and compliance with CTEV brace were recorded. Clinical evaluation was performed using the functional Ponseti Scoring System. Mean follow up was 4 years: range 13-83 months. RESULTS: An average of 6.6 casts was necessary before performing the tenotomy. Tenotomy was performed by a single surgeon (V.P.) in a total of 68 patients (82.93%) always in an operating room under general anaesthesia by a percutaneous approach at a mean age of 106 days (range 45-213 days). Compliance with CTEV brace was satisfactory in 79 patients (96.3%). Functional Ponseti Scores were good/excellent in 79 (96.34%) patients (109 clubfeet; 95.61%). Only 3 patients; 3.7% (5 clubfeet; 4.4%) suffered relapse. Poor compliance with the Denis Browne splint was thought to be the main cause of failure. CONCLUSIONS: The Ponseti method provides an excellent outcome at follow up in the treatment of congenital idiopathic clubfoot.


Asunto(s)
Pie Equinovaro/terapia , Moldes Quirúrgicos , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Manipulación Ortopédica , Férulas (Fijadores)
12.
Eur Rev Med Pharmacol Sci ; 17(14): 1978-81, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23877866

RESUMEN

Moschcowitz's syndrome or thrombotic thrombocytopenic purpura is a quite rare pathology in childhood, being, as a matter of fact, more frequent among adult people. Often it is hard to distinguish from other pathologies in children both for its rare incidence and for the presence of clinical forms that are very heterogeneous and difficult to be classified. We report on a 13 year-old girl suffering from Moschcowitz's syndrome, in whom respiratory failure and pharyngeal hematoma were the first sign of the disease follone by jaundice, hematoma of the arm and limbs. The girl was treated with plasmapheresis with an improvement of her general condition. Since then we have followed up the girl for two years without any reappearance of the symptomatology. To our knowledge this is the first report of this peculiar presentation in children.


Asunto(s)
Hematoma/etiología , Enfermedades Faríngeas/etiología , Púrpura Trombocitopénica Trombótica/complicaciones , Insuficiencia Respiratoria/etiología , Adolescente , Recuento de Células Sanguíneas , Femenino , Humanos , Plasmaféresis , Púrpura Trombocitopénica Trombótica/diagnóstico , Tomografía Computarizada por Rayos X
13.
Eur Rev Med Pharmacol Sci ; 17(7): 989-93, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23640449

RESUMEN

The Authors report on two children affected by Kawasaki disease (KD). The diagnosis of KD was made after exclusion of conditions with similar presentation. At admission these children (cases 1 and 2) presented fever, purulent caseous pharyngotonsillitis, and cervical bilateral lymphadenopathy, as well as an erythematous non-vesicular rash over the face and trunk, and a mild bilateral non-exudative conjunctivitis in case 1. After respectively three and two days corticosteroid therapy was started without any significant improvement of the general condition and any diminutions of the fever. Two days later in case 1 the child presented a clear otorrhea, a cutaneous non vesicular rash, and soon after all the remaining signs of Kawasaki disease, in case 2 otorrhea was found after 4 days and then the other signs of the KD. These patients were treated with intravenous immunoglobulin (2 g/kg day), with an improvement of their general condition. To our knowledge we report the first cases of otorrhea in the setting of Kawasaki disease. We cannot exclude that the presence of Kawasaki disease in the context of otorrhea in children positive for Epstein-Barr virus (EBV) is merely coincidental. Besides, recent acquisitions show that KD is due to a new virus that could cross-react with the EBV. The Authors conclude that the presence of EBV infection or similar condition in a febrile child may not exclude Kawasaki disease and a differential diagnosis has to be performed for a timely commencement of intravenous immunoglobulin therapy.  


Asunto(s)
Infecciones por Virus de Epstein-Barr/complicaciones , Síndrome Mucocutáneo Linfonodular/diagnóstico , Otitis Media con Derrame/etiología , Preescolar , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Síndrome Mucocutáneo Linfonodular/complicaciones
14.
Ann Ig ; 25(2): 99-107, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23471447

RESUMEN

BACKGROUND: Migration and HIV infection are known risk factors for methicillin-resistant Staphylococcus aureus (MRSA) carriage and infection. The aim of the study was to analyze the prevalence of MRSA nasal colonization in a high risk population of HIV-negative migrants and HIV-infected subjects. Secondary aim was to investigate over time MRSA carriage prevalence in HIV-infected subjects. METHODS: During the study period (January-June 2008), nasal swabs were collected from 96 HIV-negative migrants and 63 HIV-infected patients. A group of 68 seropositive subjects was additionally screened for MRSA carriage in 2012. Subjects were evaluated for HIV status, previous antibiotic use or hospitalization, soft tissue and skin infections (SSI), nationality and work conditions. The swab specimens were plated and incubated for 24-h under static condition at 37 degrees and then identified as S. aureus by using standard methods. RESULTS: A total of 227 subjects, 131 HIV-infected adults (63 in 2008 and 68 in 2012) and 96 HIV-negative migrants, were analyzed. Overall, 71/227 (31.2%) were S. aureus carriers: 34 out of 131 (25.9%) among HIV infected subjects and 37 out of 96 (38.5%) among migrants. Two MRSA were detected in HIV-infected patients (2.8%). Between 2008 and 2012 there was an increase of MRSA carriage in HIV+ group (p=0.49). No statistically significant differences were found between S. aureus carriers and no-carriers in terms of CD4+ cell count, TMP/SMX prophylaxis, previous antibiotic use or hospitalization, nationality and duration of stay in Italy. Among HIV+ patients there was a higher prevalence of SSI in MSSA carriers compared with no carriers (25% vs 4%, p=0.028). In the migrants group, having a job based on a close human contact was significantly associated with S. aureus colonization (p=0.0038). CONCLUSIONS: Despite of the high prevalence of S. aureus isolation (31.2%), the present study showed the low rate of MRSA carriage in a high risk population. The main factor associated with S. aureus colonization was a close human contact rather than the HIV status and the condition of being migrant.


Asunto(s)
Portador Sano/epidemiología , Infecciones por VIH/epidemiología , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Servicio Ambulatorio en Hospital/estadística & datos numéricos , Infecciones Estafilocócicas/epidemiología , Migrantes/estadística & datos numéricos , Adulto , África/etnología , Asia/etnología , Portador Sano/microbiología , Comorbilidad , Farmacorresistencia Bacteriana Múltiple , Europa Oriental/etnología , Femenino , Seronegatividad para VIH , Humanos , América Latina/etnología , Masculino , Staphylococcus aureus Resistente a Meticilina/efectos de los fármacos , Persona de Mediana Edad , Cavidad Nasal/microbiología , Exposición Profesional , Prevalencia , Ciudad de Roma/epidemiología , Infecciones Estafilocócicas/microbiología , Infecciones Estafilocócicas/transmisión
15.
Glob Med Genet ; 10(4): 345-347, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38025191

RESUMEN

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.

16.
Glob Med Genet ; 10(4): 335-338, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38025195

RESUMEN

Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for failure to thrive and feeding difficulties. At birth, the infant was admitted to intensive care for severe hypernatremia (natremia 186 mg/dL). Upon entering the ward, the general conditions were poor. He presented with diffuse erythrodermia. A dermatological evaluation showed evidence of "invaginated trichuriasis," a typical sign of Netherton syndrome. Netherton syndrome is caused by a genetic mutation causing loss of function of the SPINK5 gene it encodes for the LEKTI protein, normally expressed in epithelia. Loss of LEKTI induces severe skin barrier defect. The history of the disease is characterized by serious potential complications in the first months of life, such as the risk of hypernatremic dehydration induced by high skin permeability, recurrent and/or severe infections, and growth retardation.

17.
Acta Neurol Belg ; 123(3): 903-909, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36068432

RESUMEN

OBJECTIVE: To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy-Walker malformations (DWM) and variants (DWV) in a single tertiary hospital in Catania and compare our data to their existent in the literature. METHODS: A retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al. RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId). CONCLUSIONS: Children with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.


Asunto(s)
Síndrome de Dandy-Walker , Hidrocefalia , Anomalías Urogenitales , Embarazo , Femenino , Niño , Humanos , Síndrome de Dandy-Walker/complicaciones , Síndrome de Dandy-Walker/diagnóstico por imagen , Estudios Retrospectivos , Hidrocefalia/complicaciones , Anomalías Urogenitales/complicaciones , Imagen por Resonancia Magnética
18.
Int J Immunopathol Pharmacol ; 25(4): 1083-91, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23298498

RESUMEN

The aim of the present study is to report on the frequency of some comorbidities in primary headaches in childhood. Two hundred and eighty children (175 males and 105 females; ratio 1.7:1), aged 4 to 14 years, affected by primary headaches were consecutively enrolled in this study. In direct interviews, parents and children gave information about the association of their headaches with different conditions including asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight, affections some time associated in the literature to headache as comorbidities . In addition, anxiety and depression, attention deficit/hyperactivity disorder, tics, learning disabilities and obsessive-compulsive disorders, using psycho-diagnostic scales were evaluated. Two hundred and eighty children matched for age, sex, race and socio-economic status, were used as controls. No significant association of primary headaches was found with asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight. Overall behavioral disorders were more common in children who experienced headache than in controls. A significant association of primary headache was found with anxiety and depression (p value < 0.001), but not with the other psychiatric disorders. Primary headaches in children are not associated with most of the psychiatric and systemic conditions herein investigated. On the contrary, there was a significant association with anxiety and depression, as frequently reported in adults.


Asunto(s)
Cefalea/etiología , Adolescente , Ansiedad/complicaciones , Niño , Preescolar , Comorbilidad , Depresión/complicaciones , Femenino , Cefalea/epidemiología , Humanos , Masculino , Trastornos Migrañosos/epidemiología , Trastornos Migrañosos/etiología , Trastorno Obsesivo Compulsivo/complicaciones , Apnea Obstructiva del Sueño/complicaciones , Clase Social
19.
Int J Immunopathol Pharmacol ; 25(2): 513-7, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22697084

RESUMEN

Guillain-Barré syndrome (GBS) is an inflammatory polyneuropathy characterized by acute onset, rapid progression, symmetric muscular weakness, pain, and paresthesias. The incidence of GBS in the pediatric age group is 0.8 cases per 100,000; 50%-70% of the cases are preceded by respiratory or gastrointestinal infectious episodes or vaccination. The etiopathogenesis of GBS has been hypothesized to involve a direct immune-mediated mechanism against the peripheral nerves. A series of 20 patients managed in the Department of Pediatrics of the University of Catania between 2003 and 2011 and evaluated according to epidemiologic, clinical, and therapeutic features is reported.


Asunto(s)
Síndrome de Guillain-Barré , Adolescente , Antirretrovirales/uso terapéutico , Autoanticuerpos/sangre , Autoanticuerpos/líquido cefalorraquídeo , Biomarcadores/líquido cefalorraquídeo , Niño , Preescolar , Evaluación de la Discapacidad , Quimioterapia Combinada , Femenino , Gangliósidos/inmunología , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/tratamiento farmacológico , Síndrome de Guillain-Barré/epidemiología , Síndrome de Guillain-Barré/inmunología , Síndrome de Guillain-Barré/fisiopatología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Italia , Masculino , Examen Neurológico , Valor Predictivo de las Pruebas , Recurrencia , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Esteroides/uso terapéutico , Factores de Tiempo , Resultado del Tratamiento
20.
Eur Rev Med Pharmacol Sci ; 16(12): 1719-22, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23161046

RESUMEN

INTRODUCTION: A review of the available literature has shown that the indications, epidemiology, and complications for tracheostomies are changing, and that no definite guidelines have been established. In the 1970s, the most common indication for tracheostomies in children was acute inflammatory airway obstruction. Modern neonatal intensive care units (ICU) have turned long-term intubation into an alternative to a tracheostomy. Currently, long-term intubation has become the most important indication for tracheostomies in children. PATIENTS AND METHODS: We present our series involving tracheostomies performed in paediatric patients between 2004 and 2008 at our hospital. Sixteen patients underwent tracheostomies for respiratory failure and upper airway obstruction. RESULTS: The total complications rate was 37.5%. In children < 1 year of age, the complications rate was 25%, while in children > 1 year of age, the complications rate was 12.5%. CONCLUSIONS: Long-term intubation and its sequelae have now become one of the most important indications for tracheostomies in the paediatric age group.


Asunto(s)
Obstrucción de las Vías Aéreas/cirugía , Complicaciones Posoperatorias/epidemiología , Insuficiencia Respiratoria/cirugía , Traqueostomía/efectos adversos , Adolescente , Factores de Edad , Niño , Preescolar , Remoción de Dispositivos/estadística & datos numéricos , Femenino , Humanos , Lactante , Unidades de Cuidado Intensivo Neonatal/estadística & datos numéricos , Intubación Intratraqueal/estadística & datos numéricos , Italia/epidemiología , Masculino , Estudios Retrospectivos , Traqueostomía/métodos , Traqueostomía/mortalidad , Traqueostomía/estadística & datos numéricos
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