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1.
J Endocrinol Invest ; 2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38733428

RESUMO

PURPOSE: Information on the general health of transgender and gender diverse (TGD) individuals continues to be lacking. To bridge this gap, the National Institute of Health in Italy together with the National Office against Racial Discriminations, clinical centres, and TGD organizations carried out a cross-sectional study to define the sociodemographic profile, health-related behaviours, and experiences of healthcare access in Italian TGD adult population. METHODS: A national survey was conducted by Computer-Assisted Web Interviewing (CAWI) technique. Collected data were compared within the TGD subgroups and between TGD people and the Italian general population (IGP). RESULTS: TGD respondents were 959: 65% assigned female at birth (AFAB) and 35% assigned male at birth (AMAB). 91.8% and 8.2% were binary and non-binary TGD respondents, respectively. More than 20% of the TGD population reported to be unemployed with the highest rate detectable in AMAB and non-binary people. Cigarette smoking and binge drinking were higher in the TGD population compared with IGP (p < 0.05), affecting TGD subgroups differently. A significant lower percentage of AFAB TGD people reported having had screening for cervical and breast cancer in comparison with AFAB IGP (p < 0.0001, in both cases). Over 40% was the percentage of AFAB and non-binary TGD people accessing healthcare who felt discriminated against because of their gender identity. CONCLUSIONS: Our results are a first step towards a better understanding of the health needs of TGD people in Italy in order to plan the best policy choices for a more inclusive public health.

2.
J Endocrinol Invest ; 47(2): 315-323, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37566202

RESUMO

PURPOSE: The aim of our study was to compare the incidence of idiopathic central precocious puberty (CPP) in our highly specialized Endocrinological Center before and after the onset of COVID-19 lockdown; we also aimed to identify any potential difference between girls with CPP from the two different time periods. METHODS: We retrospectively analyzed the auxological profile of 49 girls with idiopathic CPP: 30 with pre-lockdown onset and 19 with post-lockdown onset of the disease. We collected patients' characteristics (medical history, physical examination, baseline and dynamic hormonal assessment, bone age, pelvic ultrasound) and compared them between the two groups. RESULTS: We registered an almost threefold increase in CPP incidence in the 2020-2021 period compared to the previous six years. In post-lockdown patients we found a trend for an earlier diagnosis in terms of both chronological age (p 0.0866) and days between the onset of first pubertal signs and diagnosis (p 0.0618). We also found that post-lockdown patients had a significantly lower hypothalamus-pituitary-gonadal axis activation (lower ∆LH% after GnRH test, p 0.0497), a significantly lower increase in bone age calculated at RUS with TW3 method (p 0.0438) and a significantly reduced ovarian activation in females (lower delta-4-androstenedione levels, p 0.0115). Interestingly, post-lockdown patients were born from mothers with an older age at menarche (p 0.0039). CONCLUSIONS: Besides confirming a significant increase in new diagnoses of CPP in the post-lockdown period, our findings among Post-lockdown girls also suggest a less progressive form of CPP and a stronger environmental influence compared to genetic background in determining the timing of pubertal onset.


Assuntos
COVID-19 , Puberdade Precoce , Feminino , Humanos , Recém-Nascido , Puberdade Precoce/diagnóstico , COVID-19/epidemiologia , COVID-19/complicações , Estudos Retrospectivos , Controle de Doenças Transmissíveis , Menarca , Hormônio Liberador de Gonadotropina
3.
J Endocrinol Invest ; 46(3): 439-456, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36422829

RESUMO

PURPOSE: There is a lack of uniformity in the definition of normal ovary ultrasound parameters. Our aim was to summarize and meta-analyze the evidence on the topic. Full-text English articles published through December 31, 2020 were retrieved via MEDLINE and Embase. Data available for meta-analysis included: ovarian follicular count, ovarian volume, and ovarian Pulsatility Index (PI) assessed by Doppler ultrasound. METHODS: Cohort, cross-sectional, prospective studies with a single or double arm were considered eligible. Interventional studies were included when providing baseline data. Both studies on pre- and post-menopausal women were screened; however, data on menopausal women were not sufficient to perform a meta-analysis. Studies on pre-pubertal girls were considered separately. Eighty-one papers were included in the meta-analysis. RESULTS: The mean ovarian volume was 6.11 [5.81-6.42] ml in healthy women in reproductive age (5.81-6.42) and 1.67 ml [1.02-2.32] in pre-pubertal girls. In reproductive age, the mean follicular count was 8.04 [7.26-8.82] when calculated in the whole ovary and 5.88 [5.20-6.56] in an ovarian section, and the mean ovarian PI was 1.86 [1.35-2.37]. Age and the frequency of the transducers partly modulated these values. In particular, the 25-30-year group showed the higher mean follicular count (9.27 [7.71-10.82]), followed by a progressive age-related reduction (5.67 [2.23-9.12] in fertile women > 35 years). A significant difference in follicular count was also found according to the transducer's upper MHz limit. CONCLUSION: Our findings provide a significant input to improve the interpretation and diagnostic accuracy of ovarian ultrasound parameters in different physiological and pathological settings.


Assuntos
Ginecologia , Ovário , Gravidez , Feminino , Humanos , Adulto , Ovário/diagnóstico por imagem , Ovário/patologia , Estudos Prospectivos , Voluntários Saudáveis , Estudos Transversais
4.
J Endocrinol Invest ; 44(11): 2445-2454, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33738751

RESUMO

PURPOSE: To investigate predictors of testicular response and non-reproductive outcomes (height, body proportions) after gonadotropin-induced puberty in congenital hypogonadotropic hypogonadism (CHH). DESIGN: A retrospective analysis of the puberty induction in CHH male patients, undergoing an off-label administration of combined gonadotropin (FSH and hCG). METHODS: Clinical and hormonal evaluations before and during gonadotropin stimulation in 19 CHH patients genotyped by Targeted Next Generation Sequencing for CHH genes; 16 patients underwent also semen analysis after gonadotropins. RESULTS: A lesser increase in testicular volume after 24 months of induction was significantly associated with: (I) cryptorchidism; (II) a positive genetic background; (III) a complete form of CHH. We found no significant correlation with the cumulative dose of hCG administered in 24 months. We found no association with the results of semen analyses, probably due to the low numerosity. Measures of body disproportion (eunuchoid habitus and difference between adult and target height: deltaSDSth), were significantly related to the: (I) age at the beginning of puberty induction; (II) duration of growth during the induction; (III) initial bone age. The duration of growth during induction was associated with previous testosterone priming and to partial forms of CHH. CONCLUSIONS: This study shows that a strong genetic background and cryptorchidism, as indicators of a complete GnRH deficiency since intrauterine life, are negative predictors of testicular response to gonadotropin stimulation in CHH. Body disproportion is associated with a delay in treatment and duration of growth during the induction, which is apparently inversely related to previous androgenization.


Assuntos
Estatura/efeitos dos fármacos , Gonadotropina Coriônica/uso terapêutico , Criptorquidismo , Hormônio Foliculoestimulante/uso terapêutico , Predisposição Genética para Doença , Hipogonadismo , Adulto , Criptorquidismo/diagnóstico , Criptorquidismo/etiologia , Relação Dose-Resposta a Droga , Disgenesia Gonadal/tratamento farmacológico , Disgenesia Gonadal/etiologia , Gonadotropinas/uso terapêutico , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Hipogonadismo/congênito , Hipogonadismo/genética , Hipogonadismo/terapia , Masculino , Puberdade/efeitos dos fármacos , Saúde Reprodutiva/estatística & dados numéricos , Análise do Sêmen/métodos , Análise do Sêmen/estatística & dados numéricos , Testículo , Tempo para o Tratamento/normas
6.
J Pediatr Surg ; 50(9): 1441-56, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25783403

RESUMO

BACKGROUND: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. METHODS: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). RESULTS: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. CONCLUSIONS: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.


Assuntos
Atresia Esofágica/epidemiologia , Diagnóstico Pré-Natal , Inquéritos e Questionários , Fístula Traqueoesofágica/epidemiologia , Adulto , Estudos Transversais , Grupos Diagnósticos Relacionados , Atresia Esofágica/diagnóstico , Feminino , Humanos , Incidência , Recém-Nascido , Itália/epidemiologia , Masculino , Gravidez , Fístula Traqueoesofágica/diagnóstico , Adulto Jovem
7.
Int J Legal Med ; 127(6): 1109-23, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23842669

RESUMO

We have combined morphological, molecular, and chemical techniques in order to identify the plant and chemical composition of some last-generation smart drugs, present on the market under the following names: Jungle Mistic Incense, B-52, Blendz, and Kratom 10x. Micromorphological analyses of botanical fragments allowed identification of epidermal cells, stomata, trichomes, starch, crystals, and pollen. DNA barcoding was carried out by the plastidial gene rbcL and the spacer trnH-psbA as universal markers. The combination of morphological and molecular data revealed a mixture of plants from different families, including aromatic species, viz., Lamiaceae and Turneraceae. GC-MS and LC-MS analyses on ethanol or methanol extracts showed the presence of synthetic cannabinoids, including JWH-250 in Jungle, JWH-122 in B-52, and JWH-073 and JWH-018 in Blendz. In Kratom 10x, only the indole alkaloid mitragynine was detected. All the identified synthetic cannabinoids, apart from mitragynine, are under the restriction of law in Italy (TU 309/90). Synthetic cannabinoid crystals were also identified by scanning electron microscopy and energy dispersive X-ray spectroscopy, which also detected other foreign organic chemicals, probably preservatives or antimycotics. In Kratom only leaf fragments from Mitragyna speciosa, containing the alkaloid mitragynine, were found. In the remaining products, aromatic plant species have mainly the role of hiding synthetic cannabinoids, thus acting as a "green shuttle" rather than as real drugs. Such a multidisciplinary approach is proposed as a method for the identification of herbal blends of uncertain composition, which are widely marketed in "headshops" and on the Internet, and represent a serious hazard to public health.


Assuntos
Canabinoides/análise , Drogas Desenhadas/análise , Drogas Ilícitas/análise , Plantas/química , Alcaloides de Triptamina e Secologanina/análise , DNA Intergênico/genética , DNA de Plantas/análise , DNA de Plantas/genética , Cromatografia Gasosa-Espectrometria de Massas , Medicina Herbária , Humanos , Itália , Microscopia Eletrônica de Varredura , Plantas/anatomia & histologia , Plantas/genética , Ribulose-Bifosfato Carboxilase/genética , Espectrometria por Raios X
8.
Environ Sci Pollut Res Int ; 20(7): 5067-75, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23338992

RESUMO

Metal contamination was investigated in soils of the Vallecamonica, an area in the northern part of the Brescia province (Italy), where ferroalloy industries were active for a century until 2001. The extent in which emissions from ferroalloy plants affected metal concentration in soils is not known in this area. In this study, the geogenic and/or anthropogenic origin of metals in soils were estimated. A modified Community Bureau of Reference sequential chemical extraction method followed by inductively coupled plasma optical emission spectroscopy (ICP-OES) analyses were employed to evaluate the potential bioavailability of Al, Cd, Mn, Fe, Cr, Zn, and Pb in soils. Principal component analysis (PCA) was used to assess the relationships among metal sources in soil samples from different locations. This approach allowed distinguishing of different loadings and mobility of metals in soils collected in different areas. Results showed high concentrations and readily extractability of Mn in the Vallecamonica soils, which may suggest potential bioavailability for organisms and may create an environmental risk and potential health risk of human exposure.


Assuntos
Monitoramento Ambiental/métodos , Metais/análise , Poluentes do Solo/análise , Fracionamento Químico , Itália , Análise de Componente Principal , Reprodutibilidade dos Testes , Medição de Risco , Solo/análise , Solo/química , Poluentes do Solo/química
9.
Arthritis Rheum ; 63(4): 1141-50, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21225694

RESUMO

OBJECTIVE: To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis, pharyngitis, and adenitis syndrome (PFAPA). METHODS: The extracellular region of TNFRSF1A was analyzed in 720 consecutive children with periodic fever, using denaturing high-performance liquid chromatography and DNA sequencing. Followup data on 11 pediatric patients with TNFRSF1A structural mutations (cysteine or T50M), 23 pediatric patients with an R92Q substitution, and 64 pediatric patients with PFAPA were collected during routine clinic visits. The 50-item Child Health Questionnaire was used to assess health-related quality of life (HRQOL). RESULTS: The frequency of typical TRAPS-related clinical manifestations was significantly lower and the impact of the disease on HRQOL was significantly reduced in patients with the R92Q mutation compared with TRAPS patients carrying structural mutations of TNFRSF1A. Followup data on 11 TRAPS patients with TNFRSF1A structural mutations (mean followup 7.9 years), 16 patients with theR92Q substitution (mean followup 7.3 years), and 64 patients with PFAPA (mean followup 5.2 years) were available. Patients with R92Q mutations and patients with PFAPA displayed a higher rate of self-resolution or amelioration of the fever episodes than did TRAPS patients with structural mutations. CONCLUSION: Although some cases may progress to a more chronic disease course, the majority of children with an R92Q mutation of the TNFRSFA1 gene show a milder disease course than that in children with TNFRSFA1 structural mutations and have a high rate of spontaneous resolution and amelioration of the recurrent fever episodes.


Assuntos
Febre Familiar do Mediterrâneo/genética , Febre/genética , Linfadenite/genética , Mutação/genética , Faringite/genética , Receptores Tipo I de Fatores de Necrose Tumoral/genética , Receptores do Fator de Necrose Tumoral/fisiologia , Adolescente , Antirreumáticos/uso terapêutico , Terapia Biológica , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/fisiopatologia , Feminino , Febre/tratamento farmacológico , Febre/fisiopatologia , Seguimentos , Genótipo , Inquéritos Epidemiológicos , Humanos , Lactente , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Estudos Longitudinais , Linfadenite/tratamento farmacológico , Linfadenite/fisiopatologia , Masculino , Faringite/tratamento farmacológico , Faringite/fisiopatologia , Qualidade de Vida , Recidiva , Estudos Retrospectivos , Esteroides/uso terapêutico , Síndrome
10.
Dement Geriatr Cogn Disord ; 32(5): 301-7, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22262124

RESUMO

AIMS: The main aims of the study were the translation and the subsequent validation in Italian of the Addenbrooke's Cognitive Examination Revised (ACE-R), and the evaluation of its usefulness in discriminating cognitively normal subjects from patients with mild dementia in an elderly population. METHODS: The ACE-R was translated and adapted into Italian. The Italian ACE-R was administered to a group of 179 elderly subjects (72 cognitively healthy and 107 subjects with mild dementia, mean age 75.4±6.4 years). The group was stratified into two subsamples according to age, i.e. a young-old (<75 years) and an old-old (≥75 years) group, in order to evaluate the sensitivity and specificity of the test in detecting dementia in different age strata of elderly subjects. RESULTS: The reliability of the Italian ACE-R was extremely good (α-coefficient=0.85). Two different cutoffs were identified for young-old (cutoff 79; sensitivity 90% and specificity 80%) and old-old subjects (cutoff 60; sensitivity 82% and specificity 100%). CONCLUSIONS: The Italian ACE-R is a valid screening tool to detect dementia, especially in the old-old population, which represents not only the fastest growing age group but also the group at the highest risk of dementia in Western countries.


Assuntos
Disfunção Cognitiva/diagnóstico , Comparação Transcultural , Demência/diagnóstico , Entrevista Psiquiátrica Padronizada/estatística & dados numéricos , Testes Neuropsicológicos/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Disfunção Cognitiva/psicologia , Demência/psicologia , Demência Vascular/diagnóstico , Demência Vascular/psicologia , Feminino , Demência Frontotemporal/diagnóstico , Demência Frontotemporal/psicologia , Humanos , Itália , Doença por Corpos de Lewy/diagnóstico , Doença por Corpos de Lewy/psicologia , Masculino , Psicometria/estatística & dados numéricos , Valores de Referência , Reprodutibilidade dos Testes , Tradução
11.
Arch Pediatr ; 16(9): 1225-32, 2009 Sep.
Artigo em Francês | MEDLINE | ID: mdl-19586761

RESUMO

AIM: To analyze the changes in the management of retropharyngeal and parapharyngeal infections and propose a decisional algorithm for their diagnosis and treatment. PATIENTS AND METHODS: A retrospective survey was carried out in a tertiary care pediatric hospital between January 2001 and December 2005. All children aged less than 15 years and affected by a retro- or parapharyngeal infection were included. Clinical, biological, and radiological data, medical and surgical treatment, and complications were extracted from the review of medical charts. The results of the surgical findings were correlated with a cervical computed tomographic scan (CT scan). RESULTS: Thirty-one patients were included, 64.5% during the last 2 years of the study period. All children presented fever and a stiff neck. The pharyngeal examination revealed a retropharyngeal bulge in a quarter of the population and an upper respiratory tract infection was concomitant in 68% of cases. A CT scan was carried out in 29 of 31 children (93.5%), with the radiological diagnosis of an abscess in 16 children (55.2%), presuppurative adenitis in 8 children (27.6%), and cellulitis in 5 children (17.2%). The CT scan was performed within 0.75 days of admission in 2001 and 2.3 days in 2005. All children were treated with intravenous antibiotic therapy: an association of amoxicillin/clavulanic acid and an aminoglycoside in most cases. The mean duration of intravenous antibiotic therapy was 5.2 days. Seventeen patients (93.5%) underwent surgical drainage and purulent material was found in 82.3% of cases. The accuracy of the CT scan, confirmed by surgical finding of a purulent material, was 71.4% in correctly identifying an abscess. The mean duration of surgical treatment after admission increased from 1.7 days in 2001 to 3.3 days in 2005. The number of patients who underwent surgery was divided by a factor of 3 in the second period of the study. Two groups were compared: group A (n=12) treated with antibiotic therapy and group B (n=17) treated with antibiotics and surgical drainage. No significant difference was found between the two groups considering the duration of parenteral and oral antibiotic therapy, the standardization of cervical mobility, the mean time for apyrexia, and the length of hospitalization. There was one recurrence in group B 1 month later, and one case of sepsis in group A. None of the patients with retropharyngeal infection died. CONCLUSION: Without clinical evidence of severe sepsis, parenteral antibiotic therapy is recommended as the first-line treatment for children over 6 months of age presenting with retropharyngeal and parapharyngeal infections. If the clinical and/or biological conditions do not improve within 48-72h, a CT scan is indicated to assess the extent of infection and exclude complications. The decision to initiate surgical drainage depends on the patient's clinical status and the accessibility of the abscess.


Assuntos
Linfadenite/tratamento farmacológico , Linfadenite/cirurgia , Abscesso Retrofaríngeo/tratamento farmacológico , Abscesso Retrofaríngeo/cirurgia , Adolescente , Algoritmos , Amoxicilina/uso terapêutico , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Ácido Clavulânico/uso terapêutico , Drenagem , Quimioterapia Combinada , Feminino , Febre/etiologia , Hospitais Pediátricos , Hospitais Universitários , Humanos , Lactente , Recém-Nascido , Injeções Intravenosas , Linfadenite/complicações , Linfadenite/diagnóstico , Masculino , Doenças Faríngeas/diagnóstico , Doenças Faríngeas/tratamento farmacológico , Abscesso Retrofaríngeo/complicações , Abscesso Retrofaríngeo/diagnóstico , Estudos Retrospectivos , Resultado do Tratamento
12.
Arthritis Rheum ; 58(6): 1823-32, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18512793

RESUMO

OBJECTIVE: To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS: A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diagnostic score was formulated based on univariate and multivariate analyses in genetically positive and negative patients (training set). The diagnostic score was validated in an independent set of 77 patients (validation set). RESULTS: Young age at onset (odds ratio [OR] 0.94, P = 0.003), positive family history of periodic fever (OR 4.1, P = 0.039), thoracic pain (OR 4.6, P = 0.05), abdominal pain (OR 33.1, P < 0.001), diarrhea (OR 3.3, P = 0.028), and oral aphthosis (OR 0.2, P = 0.007) were found to be independently correlated with a positive genetic test result. These variables were combined in a linear score whose ability to predict a positive result on genetic testing was validated in an independent data set. In this latter set, the diagnostic score revealed high sensitivity (82%) and specificity (72%) for discriminating patients who were genetically positive from those who were negative. In patients with a high probability of having a positive result on genetic testing, a regression tree analysis provided the most reasonable order in which the genes should be screened. CONCLUSION: The proposed approach in patients with periodic fever will increase the probability of obtaining positive results on genetic testing, with good specificity and sensitivity. Our results further help to optimize the molecular analysis by suggesting the order in which the genes should be screened.


Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Índice de Gravidade de Doença , Adolescente , Adulto , Fatores Etários , Idoso , Algoritmos , Criança , Pré-Escolar , Estudos de Coortes , Proteínas do Citoesqueleto/genética , Diarreia/etiologia , Humanos , Lactente , Pessoa de Meia-Idade , Dor/etiologia , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Pirina , Receptores Tipo I de Fatores de Necrose Tumoral/genética , Sensibilidade e Especificidade , Estomatite Aftosa/etiologia
13.
Arthritis Rheum ; 58(5): 1516-20, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18438813

RESUMO

OBJECTIVE: To evaluate the efficacy and safety of treatment with the interleukin-1 receptor antagonist anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) requiring high cumulative doses of steroids. METHODS: Four children (mean age 9.1 years [range 4-13 years]) and 1 adult (age 33 years) with TRAPS were enrolled in the study. The 3 children with cysteine mutations (C52Y, C55Y, C43R) had prolonged and frequent attacks of fever. One child with the R92Q mutation and the adult patient with the C43R mutation displayed a more chronic disease course, with fluctuating, nearly continuous symptoms and persistent elevation of acute-phase reactant levels (including serum amyloid A [SAA]). All patients were treated with anakinra (1.5 mg/kg/day). RESULTS: All of the patients had a prompt response to anakinra, with disappearance of symptoms and normalization of acute-phase reactant levels, including SAA. In all pediatric patients, anakinra was withdrawn after 15 days of treatment. After a few days (mean 5.6 days [range 3-8]) a disease relapse occurred, which dramatically responded to reintroduction of anakinra. During the following period of observation (mean 11.4 months [range 4-20 months]), the patients did not experience episodes of fever or other disease-related clinical manifestations. Levels of acute-phase reactants remained in the normal range. No major adverse reactions or severe infections were observed. CONCLUSION: Continuous treatment with anakinra effectively controlled both the clinical and laboratory manifestations in patients with TRAPS and prevented disease relapses.


Assuntos
Antirreumáticos/uso terapêutico , Febre Familiar do Mediterrâneo/tratamento farmacológico , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Receptores do Fator de Necrose Tumoral , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino
14.
Arch Pediatr ; 13(12): 1481-5, 2006 Dec.
Artigo em Francês | MEDLINE | ID: mdl-17029935

RESUMO

AIM: Epidemiological analysis of accidents related to babywalker use admitted to a pediatric emergency department. METHODS: Retrospective, descriptive study of injuries related to babywalkers admitted to the pediatric emergency department between January 1st, 2003 and December 31st, 2005. RESULTS: One hundred and seventy-eight children were admitted due to an accident related to babywalker use. The sex ratio was 1.7 with a male prevalence. Mean age was 11+/-4 months. Seventy-eight percent of babywalker-related injuries were attributable to fall down a flight of stairs. The mean number of steps that a child fell down was 7 (range 1-20 steps). The repartition of accidents was bimodal: during the year, 1 peak in May and 1 in October; during the week: 54% of the cases occurred on Thursday or on the weekend; during the day (1 peak between 10 a.m. and 1 p.m. and 1 peak between 4 p.m. and 7 p.m.). Non-severe head traumas represented the most frequent injury (72%). Twenty-one children were hospitalised for concussion (N=15), cranial fractures (N=3), forearm fracture (N=1), dental subluxation (N=1) and extradural hematoma (N=1). A social problem (families with unsafe domestic practices) was identified in 26 children (15%), 16 of these situations were recognized due to the retrospective character of the study and the analysis of hospital admissions after the first accident. CONCLUSION: Stairway related falls associated with babywalker use and fall down in the stairs are very frequent in children less than 1 year-old. This resulted in babywalkers being prohibited in Canada since 2004. In several countries, advocates are working to ban babywalkers. Active or passive prevention methods have shown their limits. This unsafe and dangerous practice should be banned in France.


Assuntos
Acidentes por Quedas , Acidentes Domésticos/estatística & dados numéricos , Equipamentos para Lactente/efeitos adversos , Ferimentos e Lesões/epidemiologia , Fatores Etários , Feminino , Hospitalização , Humanos , Lactente , Masculino , Prevalência , Estudos Retrospectivos , Estações do Ano , Fatores Sexuais , Ferimentos e Lesões/etiologia
15.
Arch Pediatr ; 13(5): 449-52, 2006 May.
Artigo em Francês | MEDLINE | ID: mdl-16600578

RESUMO

Staphylococcal necrotizing pneumonia producing the Panton Valentine leukotoxin (PVL) has been described for many years. The french reference center for staphylococcal toxaemia defined it with precision in 1999. A 10-year-old child, died in 36 hours from respiratory distress and shock. Staphylococcal pneumonia was suspected then confirmed: S. Aureus producing PVL was isolated in lung, blood and articulations.


Assuntos
Artrite Infecciosa/microbiologia , Toxinas Bacterianas/biossíntese , Exotoxinas/biossíntese , Pneumonia Bacteriana/microbiologia , Infecções Estafilocócicas/metabolismo , Staphylococcus aureus/metabolismo , Criança , Evolução Fatal , Humanos , Leucocidinas , Masculino , Necrose
16.
Arch Pediatr ; 13(4): 364-6, 2006 Apr.
Artigo em Francês | MEDLINE | ID: mdl-16531025

RESUMO

UNLABELLED: We report a case of an accidental intoxication in a 20-month-old boy resulting from the ingestion of a rodenticide containing alpha-chloralose. CASE REPORT: Three hours after initial admission to the pediatric emergency department for wheezing bronchitis, this patient was readmitted with a clinical presentation of respiratory insufficiency, a Glasgow coma score of 9 alternating with agitation, areflexia and unilateral mydriasis. Parental interview revealed he had episodes of shaking in the afternoon. Chest x-ray showed thoracic distension. Blood investigations, electrocardiogram, cardiac echography, brain CT scan and CSF were normal. Electroencephalography registered slow delta waves 2-3 cycles/min and an aspect of degraded waves and spikes. The patient was transferred to the intensive care unit where he fully recovered within 48 hours. A second parental interview and clinical presentation confirmed an intoxication with a rodenticide containing alpha-chloralose. The late clinical orientation did not allow us to perform a urinanalysis. DISCUSSION: Clinical association of coma, spontaneous or triggered myoclonias and bronchial hypersecretion are indicative of chloralose intoxication. Presence of specific abnormalities on electroencephalogram and a positive Fujiwara-Ross reaction in an urine sample are additional elements for the diagnosis. The prognosis is usually good after early management which combines gastric lavage, activated charcoal, sedation with benzodiazepines, tracheal intubation and artificial ventilation if required. Severe clinical cases described in voluntary intoxications in adults and teenagers occur very rarely in toddlers.


Assuntos
Cloralose/efeitos adversos , Rodenticidas/efeitos adversos , Acidentes , Cloralose/análise , Coma/induzido quimicamente , Overdose de Drogas , Eletroencefalografia , Epilepsias Mioclônicas/induzido quimicamente , Humanos , Lactente , Masculino , Midríase/induzido quimicamente , Reflexo Anormal , Insuficiência Respiratória/induzido quimicamente , Rodenticidas/química
17.
J Pediatr Surg ; 38(8): 1250-2, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12891506

RESUMO

The association of apple peel bowel with multiple intestinal atresias is a rare event. The authors report a case of a 2.200-g newborn affected by this uncommon condition. The interruptions of small bowel continuity were treated successfully with 5 end-to-end anastomoses and with the construction of 2 ostomies. A gastroduodenal silicone tube (Vygon S.A., Ecouen, France) was used as an intraluminal stent.


Assuntos
Anormalidades Múltiplas/cirurgia , Atresia Intestinal/cirurgia , Intestino Grosso/cirurgia , Jejuno/anormalidades , Jejuno/cirurgia , Anastomose Cirúrgica , Humanos , Recém-Nascido , Jejunostomia , Masculino , Silicones , Stents , Síndrome
18.
Pediatr Med Chir ; 24(3): 200-7, 2002.
Artigo em Italiano | MEDLINE | ID: mdl-12236033

RESUMO

Twenty-one children (16 males, 5 females) with malignant primary hepatic tumors were admitted to the Pediatric Clinic of the University of Bologna between June 1973 and July 2001. The diagnosis was hepatoblastoma (HBL) in 16 cases; hepatocellular carcinoma (HCA) in 3 cases; undifferentiated sarcoma in 1, malignant rhabdoid tumour of the liver in 1. Median age at diagnosis was 1.8 year (1 mounth-13 years). As to intrahepatic tumor's extension, patients were classified in groups (from I to IV) according to International Society of Pediatric Oncology staging. 2 patients were ascribed to group I; 9 to group II; 9 to group III and I to group IV. At diagnosis 3 pts presented lung metastases. Seventeen patients (81%) were treated with surgery, in 11 cases as first approach to the tumor. In 10 patients, initially with unresesectable tumor, chemotherapy was started first. Drugs used were mostly Cisplatinum or Carboplatinum with Doxorubicin. Sussequently 6 patients were submitted to surgery. At a median follow up of 12.5 years, 52.3% of patients is alive without disease. This percentage rises to 58% taking into consideration only HBL and HCA cases (alive 11/19). We conclude that excluding metastases at diagnosis (3 deaths), the main prognostic factor is resectability and radical surgery: in our experience 4 patients with unresectable tumor died, as 2 patients with microscopical residual after surgery.


Assuntos
Neoplasias Hepáticas/epidemiologia , Algoritmos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Terapia Combinada , Feminino , Seguimentos , Humanos , Neoplasias Hepáticas/terapia , Masculino , Estudos Retrospectivos
19.
Pediatr Med Chir ; 24(1): 41-4, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-11938681

RESUMO

Recent improvements in video imaging and instrumentation have encouraged a wider use of endoscopic surgery as a modality for diagnostic and operative procedures. To asses the utility and diagnostic accuracy of endoscopic surgery in children with oncological diseases, we reviewed our experience about thirty-eight patients affected by oncological diseases, referred to our Department since 1995. We performed laparoscopy in 22 cases, thoracoscopy in 14, 1 combinated procedure (laparoscopy + thoracoscopy) and retroperitoneoscopy in 1 case. Endoscopic surgery is indicated in cases of paediatric oncological diseases both for diagnosis and treatment.


Assuntos
Laparoscopia , Neoplasias/diagnóstico , Neoplasias/cirurgia , Toracoscopia , Adolescente , Biópsia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Espaço Retroperitoneal , Estudos Retrospectivos
20.
Pediatr Surg Int ; 17(5-6): 483-5, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11527199

RESUMO

An 8-month-old boy presenting with a fast-growing abdominal mass was operated upon to remove the tumor, which was confirmed to be a well-formed fetus in fetu. The authors describe the clinical, radiologic, and surgical findings and review the literature.


Assuntos
Abdome/anormalidades , Feto/anormalidades , Neoplasias Abdominais/diagnóstico , Anormalidades Congênitas/patologia , Anormalidades Congênitas/cirurgia , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Teratoma/diagnóstico , Gêmeos Monozigóticos
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