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1.
Sci Rep ; 14(1): 5325, 2024 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-38438451

RESUMO

Since its emergence, SARS-CoV-2 Omicron clade has shown a marked degree of variability and different clinical presentation compared with previous clades. Here we demonstrate that at least four Omicron lineages circulated in children since December 2021, and studied until November 2022: BA.1 (33.6%), BA.2 (40.6%), BA.5 (23.7%) and BQ.1 (2.1%). At least 70% of infections concerned children under 1 year, most of them being infected with BA.2 lineages (n = 201, 75.6%). Looking at SARS-CoV-2 genetic variability, 69 SNPs were found to be significantly associated in pairs, (phi < - 0.3 or > 0.3 and p-value < 0.001). 16 SNPs were involved in 4 distinct clusters (bootstrap > 0.75). One of these clusters (A23040G, A27259C, T23617G, T23620G) was also positively associated with moderate/severe COVID-19 presentation (AOR [95% CI] 2.49 [1.26-4.89] p-value: 0.008) together with comorbidities (AOR [95% CI] 2.67 [1.36-5.24] p-value: 0.004). Overall, these results highlight the extensive SARS-CoV-2 Omicron circulation in children, mostly aged < 1 year, and provide insights on viral diversification even considering low-abundant SNPs, finally suggesting the potential contribution of viral diversification in affecting disease severity.


Assuntos
COVID-19 , SARS-CoV-2 , Criança , Humanos , SARS-CoV-2/genética , COVID-19/epidemiologia , COVID-19/genética , Gravidade do Paciente , Polimorfismo de Nucleotídeo Único
2.
Rheumatology (Oxford) ; 63(2): 366-375, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37647645

RESUMO

OBJECTIVE: The main aim of this study was to define the best treatment option for multisystem inflammatory syndrome in children (MIS-C) and to analyse the role of anakinra. METHODS: This is a multicentre retrospective cohort study. Patients were treated according to the attending physician's decision. The patients were divided into four groups on the basis of the first treatment at time of admittance: (i) IVIG, (ii) IVIG and methylprednisolone (≤2 mg/kg/day), (iii) IVIG with high-dose methylprednisolone (>2 mg/kg/day) and (iv) anakinra with or without IVIG and/or methylprednisolone. Primary outcomes were defined as the presence of at least one of the following features: death, the failure of initial treatment, meaning the need for additional treatment for clinical worsening and cardiac involvement at the end of follow-up. RESULTS: Two hundred thirty-nine patients were recruited. At univariate analysis, persistent heart involvement at discharge was more frequent in those not receiving anakinra as initial treatment (3/21 vs 66/189; P = 0.047). After comparisons between the four treatment regimens, adjusting for the propensity score, we observed that early treatment with anakinra was associated with a lower probability of developing persistent heart disease at the end of follow-up (odds ratio: 0.6; 95% CI: 0.4-1.0). CONCLUSION: We report that early treatment with anakinra is safe and very effective in patients with severe MIS-C. In addition, our study suggests that early treatment with anakinra is the most favourable option for patients with a higher risk of developing a severe disease outcome.


Assuntos
COVID-19/complicações , Imunoglobulinas Intravenosas , Proteína Antagonista do Receptor de Interleucina 1 , Síndrome de Resposta Inflamatória Sistêmica , Criança , Humanos , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Estudos Retrospectivos , Gravidade do Paciente , Metilprednisolona
3.
J Clin Med ; 12(12)2023 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-37373611

RESUMO

AIM: Concerns have been raised about possible neuropsychiatric sequelae of COVID-19. The objective of this study was to examine the plausibility of long-term mental health consequences of COVID-19 by assessing a sample of children after the resolution of the acute SARS-CoV-2 infection. METHOD: As part of a systematic follow-up assessment of pediatric patients with COVID-19 conducted at two university children's hospitals, 50 children (56% males) aged 8 to 17 years (median 11.5), 26% with previous multisystem inflammatory syndrome in children (MIS-C), without a prior history of neuropsychiatric disorders, received a battery of clinical neuropsychiatric and neuropsychological rating scales that included the Pediatric Migraine Disability Assessment (PedMIDAS), Sleep Disturbance Scale for Children (SDSC), Multidimensional Anxiety Scale for Children (MASC-2), Child Depression Inventory (CDI-2), Child Behavior Checklist (CBCL), and the NEPSY II (Neuropsychological Assessment, Second Edition). The assessments were conducted between 1 and 18 months (median 8 months) after the acute infection. RESULTS: The CBCL internalizing symptoms score was in the clinical range for 40% of the participants (vs. a population expected rate of about 10%, p < 0.001). A sleep disturbance was detected in 28%, clinically significant anxiety in 48%, and depressive symptoms in 16%. The NEPSY II scores showed impairment in attention and other executive functions in 52%, and memory deficits in 40% of the children. CONCLUSIONS: These data from direct assessment of a sample of children who had SARS-CoV-2 infection show higher than expected rates of neuropsychiatric symptoms, thus supporting the possibility that COVID-19 may have mental health sequelae long after the resolution of the acute infection.

4.
J Vasc Access ; 24(2): 198-204, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34148383

RESUMO

BACKGROUND: Central line-associated bloodstream infections (CLABSI) are significant cause of complications in pediatric intensive care units (PICUs). An emerging challenge are CLABSIs in children with medical complexity (CMC) admitted to PICU. CMC are patients with chronic conditions with or without neurological impairment needing for tracheostomy and/or home mechanical or non-invasive ventilation and/or gastrostomy/jejunostomy. We evaluate CLABSI incidence in a PICU with high prevalence of CMC. METHODS: This was a retrospective study in the PICU of the Bambino Gesù Children Hospital from January 2017 to December 2020. The medical records were reviewed and demographic, clinical and microbiological data were extracted. CLABSI were defined according to the Center for Disease Control and Prevention's National Healthcare Safety Networks (NHSN) surveillance. RESULTS: A total of 101 children with 125 central lines (CLs) were included; 79/101 (78%) patients were CMC and 50/101 (50%) had a thracheostomy. CLABSI incidence was 2.75/1000 CL-days (9 cases/3269 CL-days); incidence was 0 in patients without underling conditions and 3.14/1000 in CMC (p < 0.001). CLABSI were due to gram negative bacteria in five patients, Candida spp in three and Staphylococcus hominis in one. CLs were removed in eight cases while in the later one, with CLABSI due to Pseudomonas aeruginosa, a conservative strategy was adopted cause of unavailable alternative venous access and removed at discharge with negative culture. All patients recovered. CONCLUSIONS: A target 0% CLABSI was possible in critically ill children without underling condition while a high incidence was reported in CMC and sustained by a peculiar CLABSI ecology. This ecology should be considered when a CLABSI was suspected in CMC for prompt antibiotics stewardship.


Assuntos
Bacteriemia , Infecções Relacionadas a Cateter , Cateterismo Venoso Central , Cateteres Venosos Centrais , Sepse , Humanos , Criança , Estudos Retrospectivos , Infecções Relacionadas a Cateter/diagnóstico , Infecções Relacionadas a Cateter/epidemiologia , Infecções Relacionadas a Cateter/microbiologia , Cateterismo Venoso Central/efeitos adversos , Cateteres Venosos Centrais/efeitos adversos , Bacteriemia/diagnóstico , Bacteriemia/epidemiologia , Bacteriemia/microbiologia
5.
JAMA Netw Open ; 4(12): e2139974, 2021 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-34928354

RESUMO

Importance: Severe gastrointestinal (GI) manifestations have been sporadically reported in children with COVID-19; however, their frequency and clinical outcome are unknown. Objective: To describe the clinical, radiological, and histopathologic characteristics of children with COVID-19 presenting with severe GI manifestations to identify factors associated with a severe outcome. Design, Setting, and Participants: A multicenter retrospective cohort study (February 25, 2020, to January 20, 2021) enrolled inpatient and outpatient children (aged <18 years) with acute SARS-CoV-2 infection, confirmed by positive real-time reverse-transcriptase-polymerase chain reaction on nasopharyngeal swab or fulfilling the US Centers for Disease Control and Prevention criteria for multisystem inflammatory syndrome in children (MIS-C). The study was conducted by pediatricians working in primary care or hospitals in Italy participating in the COVID-19 Registry of the Italian Society of Pediatric Infectious Diseases. Main Outcomes and Measures: The occurrence of severe GI manifestations, defined by a medical and/or radiological diagnosis of acute abdomen, appendicitis (complicated or not by perforation and/or peritonitis), intussusception, pancreatitis, abdominal fluid collection, and diffuse adenomesenteritis requiring surgical consultation, occurring during or within 4 to 6 weeks after infection with SARS-CoV-2 infection. Logistic regression was used to estimate odds ratios (ORs) with 95% CIs of factors potentially associated with severe outcomes. Results: Overall, 685 children (386 boys [56.4%]; median age, 7.3 [IQR, 1.6-12.4] years) were included. Of these children, 628 (91.7%) were diagnosed with acute SARS-CoV-2 infection and 57 (8.3%) with MIS-C. The presence of GI symptoms was associated with a higher chance of hospitalization (OR, 2.64; 95% CI, 1.89-3.69) and intensive care unit admission (OR, 3.90; 95% CI, 1.98-7.68). Overall, 65 children (9.5%) showed severe GI involvement, including disseminated adenomesenteritis (39.6%), appendicitis (33.5%), abdominal fluid collection (21.3%), pancreatitis (6.9%), or intussusception (4.6%). Twenty-seven of these 65 children (41.5%) underwent surgery. Severe GI manifestations were associated with the child's age (5-10 years: OR, 8.33; 95% CI, 2.62-26.5; >10 years: OR, 6.37; 95% CI, 2.12-19.1, compared with preschool-age), abdominal pain (adjusted OR [aOR], 34.5; 95% CI, 10.1-118), lymphopenia (aOR, 8.93; 95% CI, 3.03-26.3), or MIS-C (aOR, 6.28; 95% CI, 1.92-20.5). Diarrhea was associated with a higher chance of adenomesenteritis (aOR, 3.13; 95% CI, 1.08-9.12) or abdominal fluid collection (aOR, 3.22; 95% CI, 1.03-10.0). Conclusions and Relevance: In this multicenter cohort study of Italian children with SARS-CoV-2 infection or MIS-C, 9.5% of the children had severe GI involvement, frequently associated with MIS-C. These findings suggest that prompt identification may improve the management of serious complications.


Assuntos
COVID-19/complicações , Gastroenteropatias/virologia , Síndrome de Resposta Inflamatória Sistêmica/complicações , Criança , Pré-Escolar , Feminino , Gastroenteropatias/diagnóstico por imagem , Gastroenteropatias/patologia , Humanos , Masculino , Prognóstico , Radiografia , Estudos Retrospectivos , SARS-CoV-2
7.
Am J Trop Med Hyg ; 104(2): 659-665, 2020 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-33319726

RESUMO

The role of Plasmodium in the etiology of acute diarrhea in developing countries remains controversial, and gastrointestinal (GI) symptoms are inconsistently reported in malaria. In this observational case-control study, we investigated the prevalence and risk factors for GI symptoms in hospitalized malarious children aged 1 month to 5 years in northern Uganda. Children with a diagnosis of Plasmodium falciparum malaria were enrolled as cases, and feverish children in whom malaria was excluded were enrolled as controls. Among 451 malarious children, 46.1% had GI symptoms at admission. Compared with controls, the frequency of diarrhea (24.8% versus 11.2%, P < 0.001) and vomiting (35.5% versus 17.5%, P < 0.001) was significantly higher in children with malaria, who had a higher chance of showing either vomiting (odds ratio [OR]: 3.22; 95% CI: 2.14-4.91) or diarrhea (OR: 3.14; 95% CI: 1.99-5.07) at hospital admission. A subgroup analysis performed in children with severe malaria, severe anemia, or high-grade fever confirmed these results. Diarrhea was more frequent in infants and children younger than 3 years than in older children. The analysis of 71 malarious children with diarrhea who received intravenous artesunate showed that the symptom resolved within the first 24 hours since the beginning of the treatment in 85.9% of cases. The 3-fold higher prevalence of diarrhea and vomiting in malarious children compared with febrile controls may provide rationale for incorporating malaria testing in the symptom-guided diagnostic approach of the young child with diarrhea and vomiting in malaria-endemic settings.


Assuntos
Antimaláricos/uso terapêutico , Diarreia/epidemiologia , Diarreia/parasitologia , Malária Falciparum/tratamento farmacológico , Malária Falciparum/epidemiologia , Plasmodium falciparum/efeitos dos fármacos , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Lactente , Malária Falciparum/transmissão , Masculino , Prevalência , Uganda/epidemiologia
8.
Ital J Pediatr ; 46(1): 180, 2020 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-33287880

RESUMO

BACKGROUND: Lately, one of the major clinical and public health issues has been represented by Coronavirus disease of 2019 (COVID-19) during pregnancy and the risk of transmission of the infection from mother to child. Debate on perinatal management and postnatal care is still ongoing, principally questioning the option of the joint management of mother and child after birth and the safety of breastfeeding. According to the available reports, neonatal COVID-19 appears to have a horizontal transmission and seems to be paucisymptomatic or asymptomatic, compared to older age groups. The aim of this work is to describe a cluster of neonatal COVID-19 and discuss our experience, with reference to current evidence on postnatal care and perinatal management. METHODS: This is a retrospective observational case series of five mother-child dyads, who attended the Labor and Delivery Unit of a first-level hospital in Italy, in March 2020. Descriptive statistics for continuous variables consisted of number of observations, mean and the range of the minimum and maximum values. RESULTS: Five women and four neonates tested positive for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). In one case, the mother-child dyad was separated and the neonate remained negative on two consecutive tests. Two positive neonates developed symptoms, with a predominant involvement of the gastrointestinal tract. Blood tests were unremarkable, except for a single patient who developed mild neutropenia. No complications occurred. CONCLUSIONS: We agree that the decision on whether or not to separate a positive/suspected mother from her child should be made on an individual basis, taking into account the parent's will, clinical condition, hospital logistics and the local epidemiological situation. In conformity with literature, in our study, affected neonates were asymptomatic or paucisymptomatic. Despite these reassuring findings, a few cases of severe presentation in the neonatal population have been reported. Therefore, we agree on encouraging clinicians to monitor the neonates with a suspected or confirmed infection.


Assuntos
COVID-19/terapia , COVID-19/transmissão , Transmissão de Doença Infecciosa , Mães , Cuidado Pós-Natal , Adulto , COVID-19/epidemiologia , Teste para COVID-19 , Feminino , Humanos , Recém-Nascido , Itália/epidemiologia , Masculino , Pandemias , Estudos Retrospectivos , SARS-CoV-2
9.
Genes (Basel) ; 11(9)2020 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-32867305

RESUMO

The recent global COVID-19 public health emergency is caused by SARS-CoV-2 infections and can manifest extremely variable clinical symptoms. Host human genetic variability could influence susceptibility and response to infection. It is known that ACE2 acts as a receptor for this pathogen, but the viral entry into the target cell also depends on other proteins. The aim of this study was to investigate the variability of genes coding for these proteins involved in the SARS-CoV-2 entry into the cells. We analyzed 131 COVID-19 patients by exome sequencing and examined the genetic variants of TMPRSS2, PCSK3, DPP4, and BSG genes. In total we identified seventeen variants. In PCSK3 gene, we observed a missense variant (c.893G>A) statistically more frequent compared to the EUR GnomAD reference population and a missense mutation (c.1906A>G) not found in the GnomAD database. In TMPRSS2 gene, we observed a significant difference in the frequency of c.331G>A, c.23G>T, and c.589G>A variant alleles in COVID-19 patients, compared to the corresponding allelic frequency in GnomAD. Genetic variants in these genes could influence the entry of the SARS-CoV-2. These data also support the hypothesis that host genetic variability may contribute to the variability in infection susceptibility and severity.


Assuntos
Basigina/genética , Infecções por Coronavirus/genética , Furina/genética , Mutação , Pneumonia Viral/genética , Serina Endopeptidases/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , COVID-19 , Criança , Pré-Escolar , Infecções por Coronavirus/patologia , Dipeptidil Peptidase 4/genética , Exoma , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/patologia , Polimorfismo de Nucleotídeo Único
10.
Pediatr Infect Dis J ; 39(11): 1017-1022, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32740455

RESUMO

BACKGROUND: Italy is classified as a low tuberculosis (TB) incidence country (rate 6.5/100,000 inhabitants). However, the Campania Region Pediatric Reference Centre (CRRC) observed an increase in TB, contemporarily with a rise in migration.Our aim was to investigate trends in TB notification rates, association with migration, and changes in clinical outcomes of children living in Campania. METHODS: We conducted a prospective cohort study (January 1, 2009-December 31, 2018), including children <18 years who received diagnosis of TB at the CRRC. Yearly crude TB incidence rates and relative confidence interval (95% CI) were calculated. Two main outcome measures were considered: loss to follow-up and poor clinical outcome, including prolonged or second-line treatment, sequelae, or death. RESULTS: Overall 146 children (52.1% male; median age, 50 months; interquartile range, 96.33) received a diagnosis of TB. TB incidence rates increased from 0.44 cases (95% CI: 0.16-0.97) per 100,000 inhabitants <18 years of age in 2009 to 1.84 cases (95% CI: 1.15-2.79) in 2018 (P < 0.05) and linearly correlated with the rate of migrants (R = 0.9272; P < 0.0001). Ziehl-Neelsen-positive children had an increased likelihood of poor clinical outcomes (odds ratio, 4.83; 95% CI: 1.28-18.2; P = 0.020). Compared with Italians, foreign children showed a lower likelihood of cure without sequelae (49.3% versus 67.9%; P < 0.001; odds ratio, 0.45; 95% CI: 0.23-0.89; P = 0.02). They accounted for all fatal cases and loss to follow-up. CONCLUSION: Pediatric TB rate in Campania increased in the last 10 years in association with the increase in migration. Emphasizing national TB rates may disregard important differences in local infection trends and limit medical awareness about TB. Foreign children may need tailored management programs.


Assuntos
Emigrantes e Imigrantes , Tuberculose/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Itália/epidemiologia , Masculino , Estudos Prospectivos
11.
J Pediatric Infect Dis Soc ; 9(3): 366-369, 2020 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-32444874

RESUMO

We evaluated severe acute respiratory syndrome coronavirus 2 RNA clearance in 22 children. The estimation of positivity at day 14 was 52% for nasopharyngeal swab and 31% for stool samples. These data underline the significance of nasopharyngeal and stoolsample for detecting infected children. Additional studies are needed for transmissibility.


Assuntos
Betacoronavirus , Infecções por Coronavirus/virologia , Pneumonia Viral/virologia , Eliminação de Partículas Virais , COVID-19 , Criança , Pré-Escolar , Infecções por Coronavirus/transmissão , Fezes/virologia , Feminino , Humanos , Lactente , Recém-Nascido , Itália/epidemiologia , Masculino , Nasofaringe/virologia , Pandemias , Pneumonia Viral/transmissão , RNA Viral/metabolismo , SARS-CoV-2 , Fatores de Tempo
12.
J Pediatr Gastroenterol Nutr ; 70(5): 694-701, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32079974

RESUMO

The incidence of gastroenteritis has greatly reduced due to improved hygiene conditions in developing countries and the use of rotavirus vaccine. Still thousands of children, however, die from gastroenteritis, most of them in poor countries. Yet gastroenteritis management is simple, inexpensive, and effective and is largely the same all over the world. Universal guidelines for gastroenteritis guide the management and include simple interventions put forward early in the course of the disease. Treatment includes rehydration, continuing oral feeding, and anti-infective drugs in selected clinical conditions related to the symptoms or to host-related risk, and possible additional drug treatment to reduce the duration and severity of symptoms. There may be minor geographical differences in the treatment applied due to health care organizations that do not substantially change the standard universal recommendations. Prevention is recommended with sanitation interventions and rotavirus universal immunization. Implementation of those interventions through educational initiatives and local programs in target areas are needed. A series of recommendations for interventions, education, and research priorities are included here with the aim of reducing the burden of gastroenteritis, to be pursued by scientists, physicians, policy makers, and stakeholders involved. They include the need of recommendations for the management of gastroenteritis in malnourished children, in those with chronic conditions, in neonates, and in emergency settings. A reference system to score dehydration, the definition of optimal composition of rehydration solution and the indications for anti-infective therapy are also included. Rotavirus immunization should be actively promoted, and evidence-based guidelines should be universally implemented. Research priorities are also indicated.


Assuntos
Gastroenterite , Infecções por Rotavirus , Vacinas contra Rotavirus , Criança , Serviço Hospitalar de Emergência , Hidratação , Gastroenterite/epidemiologia , Gastroenterite/prevenção & controle , Humanos , Lactente , Recém-Nascido , Infecções por Rotavirus/epidemiologia , Infecções por Rotavirus/prevenção & controle , Vacinação
13.
Ital J Pediatr ; 44(1): 37, 2018 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-29558972

RESUMO

BACKGROUND: Treatment of HIV infection in adolescents is challenging due to long duration of therapy and poor adherence. Recently, the integrase strand transfer inhibitor dolutegravir (DTG) has been approved for the use in adolescents with HIV, but evidence in clinical practice is very limited. METHODS: We describe six cases of HIV-infected children/adolescents successfully treated with DTG-based regimen. Data relative to children/adolescents managed at the Referral Center for Pediatric HIV/AIDS of the University of Naples were reviewed. Patients were tested before introduction of DTG, after 1 month and every 3 months in the first 2 years to assess virologic and immunological response, tolerance and development of side effects. Families were asked to report any suspected adverse events. RESULTS: Six patients (2 male, median age 17 years, range 12-18) were started on DTG-based anti-retroviral regimen due to low adherence to anti-retroviral treatment (ART), multiple drug resistance mutations, or development of ART-related side effects. Within 4-8 weeks after DTG treatment onset, a complete viral suppression and a concomitant increase of CD4+ cell count was observed. Four patients showed a persistent suppression after 2 years of follow-up, and 2 patients at about 1 year. One month after the introduction of DTG, the patient enrolled because of severe dyslipidaemia and hyper-transaminasemia showed a complete normalization of laboratory values. During follow-up (median 24 months, range 9-24) no adverse events were reported and most patients demonstrated a good adherence to treatment. CONCLUSIONS: DTG-based treatments demonstrated efficacy and good safety profile in adolescents. All patients demonstrated a rapid virologic and immunological response within 4-8 weeks, with good adherence and absence of side effects.


Assuntos
DNA Viral/análise , Infecções por HIV/tratamento farmacológico , HIV/genética , Compostos Heterocíclicos com 3 Anéis/uso terapêutico , Adolescente , Criança , Feminino , Seguimentos , Inibidores de Integrase de HIV/uso terapêutico , Humanos , Masculino , Oxazinas , Piperazinas , Piridonas , Reação em Cadeia da Polimerase em Tempo Real , Estudos Retrospectivos , Resultado do Tratamento , Carga Viral
14.
World J Gastroenterol ; 23(24): 4437-4443, 2017 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-28706427

RESUMO

AIM: To verify the precision and accuracy of transglutaminase antibodies (TGA) assays across Mediterranean countries. METHODS: This study involved 8 referral centres for celiac disease (CD) in 7 Mediterranean countries. A central laboratory prepared 8 kits of 7 blinded and randomized serum samples, with a titrated amount of Human TGA IgA. Each sample was analysed three times on three different days, with each centre running a total of 21 tests. The results were included in a blindly coded report form, which was sent to the coordinator centre. The coordinator estimated the mean coefficient of Variation (CoVar = σ/µ), the mean accuracy (Accur = Vobserved - Vreal) and the mean percent variation (Var% = [(Vobserved - Vreal)/Vreal] × 100). RESULTS: The analysis showed that 79.17% of the mean variation fell between -25% and +25% of the expected value, with the accuracy and precision progressively increasing with higher titres of TGA. From values 1.25 times greater than the normal cut-off, the measurements were highly reliable. CONCLUSION: TGA estimation is a crucial step for the diagnosis of CD; given its accuracy and precision, clinicians could be confident in establishing a diagnosis.


Assuntos
Doença Celíaca/sangue , Confiabilidade dos Dados , Imunoglobulina A/sangue , Transglutaminases/imunologia , Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Ensaio de Imunoadsorção Enzimática , Humanos , Região do Mediterrâneo , Distribuição Aleatória , Sensibilidade e Especificidade
15.
BMC Gastroenterol ; 17(1): 17, 2017 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-28109250

RESUMO

BACKGROUND: We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN guidelines can be applied in children from countries with different resources. METHODS: A real life prospective study was performed in 14 centres of 13 different Mediterranean countries. Participants were asked to apply the usual diagnostic work-up for CD according to their diagnostic facilities. RESULTS: There were 1974 patients enrolled in the study, mean age 4 years, 10 months; 865 male, 1109 female. CD was confirmed in 511 (25.9%) and was unconfirmed in 1391 (70.5%) patients; 14 patients were diagnosed as having CD according to the new ESPGHAN guidelines, 43 patients were classified as having potential CD. In all participating countries the diagnosis of CD relied on histology of duodenal biopsy; in 5 countries, HLA, and in one country endomysial antibodies (EMA) were not available. Symptoms did not add a significant increase to the pre-test probability of serological tests. The positive predictive value of tissue transglutaminase type 2 (tTG) antibodies performed with different kits but all corresponding to those recommended by ESPGHAN was 96.1% (95% CI 94-97.9%) in presence of tTG > 10xULN. In 135 patients with tTG >10xULN, HLA genotyping was performed and in all it was compatible with CD. CONCLUSIONS: The results of our study show that CD diagnosis still relies on intestinal biopsy in the Mediterranean area. New ESPGHAN criteria are not applicable in 5 countries due to lack of resources needed to perform HLA genotyping and, in one country, EMA assay. Further simplification of the new ESPGHAN guidelines might be made according to what preliminarily the present results suggest if confirmed by new prospective studies.


Assuntos
Doença Celíaca/diagnóstico , Fidelidade a Diretrizes , Guias de Prática Clínica como Assunto , Autoanticorpos/sangue , Biópsia , Pré-Escolar , Tecido Conjuntivo/imunologia , Feminino , Proteínas de Ligação ao GTP/imunologia , Técnicas de Genotipagem , Antígenos HLA/genética , Recursos em Saúde , Humanos , Intestinos/patologia , Masculino , Região do Mediterrâneo , Estudos Prospectivos , Proteína 2 Glutamina gama-Glutamiltransferase , Transglutaminases/imunologia
16.
BMC Gastroenterol ; 14: 219, 2014 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-25518884

RESUMO

BACKGROUND: We aimed at assessing the factors that can influence results of the dissemination of an already validated, new generation commercial Point-of-Care Test (POCT) for detecting celiac disease (CD), in the Mediterranean area, when used in settings where it was designed to be administered, especially in countries with poor resources. METHODS: Pragmatic study design. Family pediatricians at their offices in Italy, nurses and pediatricians in Slovenia and Turkey at pediatricians', schools and university primary care centers looked for CD in 3,559 (1-14 yrs), 1,480 (14-23 yrs) and 771 (1-18 yrs) asymptomatic subjects, respectively. A new generation POCT detecting IgA-tissue antitransglutaminase antibodies and IgA deficiency in a finger-tip blood drop was used. Subjects who tested positive and those suspected of having CD were referred to a Celiac Centre to undergo further investigations in order to confirm CD diagnosis. POCT Positive Predictive Value (PPV) at tertiary care (with Negative Predictive Value) and in primary care settings, and POCT and CD rates per thousand in primary care were estimated. RESULTS: At tertiary care setting, PPV of the POCT and 95% CI were 89.5 (81.3-94.3) and 90 (56-98.5) with Negative Predictive Value 98.5 (94.2-99.6) and 98.7% (92-99.8) in children and adults, respectively. In primary care settings of different countries where POCT was performed by a different number of personnel, PPV ranged from 16 to 33% and the CD and POCT rates per thousand ranged from 4.77 to 1.3 and from 31.18 to 2.59, respectively. CONCLUSIONS: Interpretation of POCT results by different personnel may influence the performance of POC but dissemination of POCT is an urgent priority to be implemented among people of countries with limited resources, such as rural populations and school children.


Assuntos
Doença Celíaca/diagnóstico , Cromatografia de Afinidade , Imunoglobulina A/sangue , Sistemas Automatizados de Assistência Junto ao Leito , Transglutaminases/imunologia , Humanos , Itália , Eslovênia , Turquia
17.
J Pediatr Gastroenterol Nutr ; 54(5): 624-9, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22197939

RESUMO

OBJECTIVES: The extent to which variation in taste perception influences food preferences is, to date, controversial. Bitterness in food triggers an innate aversion that is responsible for dietary restriction in children. We investigated the association among genetic variations in bitter receptor TAS2R38 and food choices in healthy children in the Mediterranean area, to develop appropriate tools to evaluate the relation among genetic predisposition, dietary habits, and feeding disorders. The aims of the study were to get a first baseline picture of taste sensitivity in healthy adults and their children and to explore taste sensitivity in a preliminary sample of obese children and in samples affected by functional gastrointestinal diseases. METHODS: Individuals (98 children, 87 parents, 120 adults) were recruited from the general population in southern Italy. Bitterness sensitivity was assessed by means of a suprathreshold method with 6-propyl-2-thiouracil. Genomic DNA from saliva was used to genotype individuals for 3 polymorphisms of TAS2R38 receptor, A49P, A262 V, and V296I. Food intake was assessed by a food frequency questionnaire. RESULTS: Children's taste sensation differed from that of adults: we observed a higher frequency of supertasters among children even in the mother-child dyads with the same diplotypes. Among adults, supertaster status was related with proline-alanine-valine (taster allele) homozygous haplotype, whereas supertaster children were mainly heterozygous. Regarding the food choices, we found that a higher percentage of taster children avoided bitter vegetables or greens altogether compared with taster adults. Taster status was also associated with body mass index in boys. CONCLUSIONS: Greater sensitivity to 6-propyl-2-thiouracil predicts lower preferences for vegetables in children, showing an appreciable effect of the genetic predisposition on food choices. None of the obese boys was a supertaster.


Assuntos
Comportamento de Escolha , Comportamento Alimentar , Preferências Alimentares , Percepção Gustatória/genética , Adolescente , Adulto , Índice de Massa Corporal , Criança , Pré-Escolar , Feminino , Variação Genética , Genótipo , Humanos , Itália , Masculino , Fenótipo , Propiltiouracila/metabolismo , Receptores Acoplados a Proteínas G/metabolismo , Inquéritos e Questionários , Paladar/genética , Paladar/fisiologia , Limiar Gustativo , Verduras , Adulto Jovem
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