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1.
Nutrition ; 122: 112397, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38479039

RESUMO

OBJECTIVE: This study aimed to evaluate the efficacy and safety of co-micronized palmitoylethanolamide (PEA)/polydatin (PD) in the treatment of abdominal pain symptoms in pediatric patients with irritable bowel syndrome (IBS). METHODS: This was a multicenter trial conducted at three Italian pediatric gastroenterology centers, employing a double-blind, placebo-controlled, parallel-arm design. Participants were ages 10 to 17 y and met Rome IV criteria for pediatric IBS. They were randomly allocated to receive either co-micronized PEA/PD or placebo, administered three times daily in a 1:1 ratio, over a 12-wk period. The study assessed baseline severity using the IBS-Severity Scoring System (IBS-SSS) at enrollment and after 4, 8, and 12 wk of treatment. Abdominal pain frequency was assessed on a scale from 1 to 7 d/wk, while stool consistency was classified using the Bristol Stool Scale (BSS) to categorize various IBS subtypes. The primary outcome was the percentage of patients who achieved complete remission, defined as IBS-SSS score <75 points after 12 wk of therapy. RESULTS: The study involved 70 children with IBS. Of the participants, 34 received co-micronized PEA/PD, and 36 received a placebo. As compared with the placebo group, the co-micronized therapy group had significantly more patients achieving complete remission after 12 wk (P = 0.015), with particular benefit in the IBS-diarrhea subtype (P = 0.01). The treatment group also experienced a significant reduction in abdominal pain intensity and frequency compared with the placebo group. No adverse events were recorded during the study period. CONCLUSIONS: Co-micronized PEA/PD is a safe and effective treatment to treat abdominal pain symptoms in pediatric IBS.


Assuntos
Amidas , Etanolaminas , Glucosídeos , Síndrome do Intestino Irritável , Ácidos Palmíticos , Estilbenos , Humanos , Criança , Síndrome do Intestino Irritável/complicações , Síndrome do Intestino Irritável/tratamento farmacológico , Diarreia/tratamento farmacológico , Resultado do Tratamento , Dor Abdominal/tratamento farmacológico , Dor Abdominal/etiologia , Resposta Patológica Completa , Método Duplo-Cego
2.
J Pediatr ; 268: 113932, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38309520

RESUMO

This multicenter study in Italian hospitals highlights the epidemiologic disruptions in the circulation of the 5 main respiratory viruses from 2019 to 2023. Our data reveal a resurgence of respiratory syncytial virus and influenza during the 2022-2023 winter season, with an earlier peak in cases for both viruses, emphasizing the importance of timely monitoring.


Assuntos
Hospitalização , Infecções por Vírus Respiratório Sincicial , Infecções Respiratórias , Estações do Ano , Humanos , Itália/epidemiologia , Estudos Retrospectivos , Hospitalização/estatística & dados numéricos , Lactente , Pré-Escolar , Criança , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/virologia , Infecções por Vírus Respiratório Sincicial/epidemiologia , Influenza Humana/epidemiologia , Masculino , Feminino , Adolescente , Recém-Nascido
3.
BMC Microbiol ; 24(1): 48, 2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38302874

RESUMO

BACKGROUND: Pediatric chronic intestinal pseudo-obstruction (PIPO) is a rare disease characterized by symptoms and radiological signs suggestive of intestinal obstruction, in the absence of lumen-occluding lesions. It results from an extremely severe impairment of propulsive motility. The intestinal endocrine system (IES) jointly with the enteric nervous system (ENS) regulates secreto-motor functions via different hormones and bioactive messengers/neurotransmitters. The neurotransmitter 5-hydroxytryptamine (5-HT) (or serotonin) is linked to intestinal peristalsis and secretory reflexes. Gut microbiota and its interplay with ENS affect 5-HT synthesis, release, and the subsequent serotonin receptor activation. To date, the interplay between 5-HT and gut microbiota in PIPO remains largely unclear. This study aimed to assess correlations between mucosa associated microbiota (MAM), intestinal serotonin-related genes expression in PIPO. To this purpose, biopsies of the colon, ileum and duodenum have been collected from 7 PIPO patients, and 7 age-/sex-matched healthy controls. After DNA extraction, the MAM was assessed by next generation sequencing (NGS) of the V3-V4 region of the bacterial RNA 16 S, on an Illumina Miseq platform. The expression of genes implicated in serotoninergic pathway (TPH1, SLC6A4, 5-HTR3 and 5-HTR4) was established by qPCR, and correlations with MAM and clinical parameters of PIPO have been evaluated. RESULTS: Our results revealed that PIPO patients exhibit a MAM with a different composition and with dysbiosis, i.e. with a lower biodiversity and fewer less connected species with a greater number of non-synergistic relationships, compared to controls. qPCR results revealed modifications in the expression of serotonin-related intestinal genes in PIPO patients, when compared to controls. Correlation analysis do not reveal any kind of connection. CONCLUSIONS: For the first time, we report in PIPO patients a specific MAM associated to underlying pathology and an altered intestinal serotonin pathway. A possible dysfunction of the serotonin pathway, possibly related to or triggered by an altered microbiota, may contribute to dysmotility in PIPO patients. The results of our pilot study provide the basis for new biomarkers and innovative therapies targeting the microbiota or serotonin pathways in PIPO patients.


Assuntos
Microbioma Gastrointestinal , Pseudo-Obstrução Intestinal , Humanos , Criança , Serotonina/metabolismo , Projetos Piloto , Intestinos , Pseudo-Obstrução Intestinal/genética , Pseudo-Obstrução Intestinal/diagnóstico , Proteínas da Membrana Plasmática de Transporte de Serotonina
5.
Dig Liver Dis ; 56(1): 70-76, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37481430

RESUMO

BACKGROUND: The natural history of ulcerative proctitis (UP) has been poorly investigated in children. AIMS: We aimed to compare the disease course of children with UP at diagnosis to the other locations and to identify extension predictors. METHODS: This was a multicenter, observational study carried out from data prospectively entered in the SIGENP-IBD-Registry. Children with ulcerative colitis (UC) diagnosis and at least 1-year follow-up were included. On the basis of Paris classification UP patients were identified and compared with the other locations. RESULTS: 872 children were enrolled (median age at diagnosis: 11.2 years; M/F: 426/446), of whom 78 (9%) with UP. Kaplan-Meier analysis demonstrated increased cumulative probabilities of disease extension in the E1 group [1 year: 20.3%; 5 years: 52.7%; 10 years: 72.4%] compared to E3 group [1 year: 8.5%; 5 years: 24.9% and 10 years: 60.1%, p=0.001]. No differences were observed comparing E1 and E2 groups [p=0.4]. Cumulative probabilities of surgery at 1, 5 and 10 years were 1.3, 2.8 and 2.8% in the E1 group and 2.5, 8 and 12.8% in the E2-E3-E4 group, respectively (p=0.1). Cox regression analysis demonstrated that PUCAI>35 at diagnosis was associated with endoscopic extension (HR=4.9; CI 95% 1.5-15.2, p=0.006). CONCLUSIONS: UP is associated with similar short and long-term outcomes compared to other locations.


Assuntos
Colite Ulcerativa , Proctite , Criança , Humanos , Seguimentos , Fatores de Risco , Progressão da Doença , Colite Ulcerativa/diagnóstico
6.
Dig Liver Dis ; 56(2): 312-321, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37586909

RESUMO

BACKGROUND AND AIMS: Foreign body ingestion (FBI) in children requires early identification to prevent adverse outcomes and may necessitate endoscopic or surgical intervention. This study aims to develop a nomogram that identifies children who require urgent surgical or endoscopic intervention by using the patient's medical history and clinical parameters collected at admission. METHODS: This study is a retrospective review (01/2015-12/2020) of a multicenter case series of children admitted for FBI. Data from 5864 records from 24 hospitals in Italy were analyzed. Logistic regression models were used to establish the probability of requiring surgical or endoscopic intervention based on patient history and clinical characteristics. The nomogram representing the results from the multivariable model was reported to examine the propensity for surgery/endoscopy. RESULTS: The study identified a significant association between intervention and various factors, including type of foreign body (blunt: reference category, disk battery (odds ratio OR:4.89), food bolus (OR:1.88), magnets (OR:2.61), sharp-pointed (OR:1.65), unknown (OR:1.02)), pre-existing diseases or conditions (OR 3.42), drooling (OR 10.91), dysphagia (OR 5.58), vomiting (OR 3.30), retrosternal pain (OR 5.59), abdominal pain (OR 1.58), hematemesis (OR 2.82), food refusal/poor feeding (OR 2.99), and unexplained crying (OR 2.01). The multivariable regression model showed good calibration and discrimination ability, with an area under the ROC curve of 0.77. CONCLUSIONS: This study developed the first nomogram to predict the probability of the need for surgical or endoscopic intervention in children with FBI, based on the information collected at admission. The nomogram will aid clinicians in identifying children who require early intervention to prevent adverse outcomes.


Assuntos
Corpos Estranhos , Nomogramas , Criança , Humanos , Endoscopia , Sistema Digestório , Corpos Estranhos/diagnóstico , Corpos Estranhos/cirurgia , Ingestão de Alimentos , Estudos Retrospectivos
7.
Nutrients ; 15(11)2023 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-37299417

RESUMO

Lifelong adherence to a gluten-free diet (GFD) is the cornerstone of management of celiac disease (CD), but adhering to a GFD can be hard. Although several factors are positively associated with adherence of pediatric CD patients to a GFD, it is unknown whether these are influenced by variability caused by the specific tool used to assess adherence to a GFD. Here, we aimed to evaluate how individual patient characteristics and dietary counselling by a trained dietitian influence adherence to a GFD in children with CD, as assessed by two validated questionnaires: the Biagi questionnaire and the Leffler short questionnaire adapted for pediatric patients. Some 139 children and adolescents were recruited in a cross-sectional, multicenter study. Concordance between the two questionnaires in defining adherence was fair (weighted Cohen's kappa coefficient 0.39, 95%CI 0.19-0.60). Upon regression analysis, having a cohabiting family member with CD, being of Italian origin, and receiving specialized dietary counselling during follow-up were found to positively influence stricter adherence to a GFD for children with CD. Neither questionnaire detected a significant relationship between adherence to a GFD and the presence of symptoms after gluten ingestion. This study provides important new data on the factors influencing GFD adherence in the pediatric population, and highlights the importance of dietician input and overcoming language and cultural barriers when educating patients.


Assuntos
Doença Celíaca , Adolescente , Humanos , Criança , Dieta Livre de Glúten , Estudos Transversais , Cooperação do Paciente , Glutens
8.
J Neurogastroenterol Motil ; 29(2): 156-165, 2023 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-37019861

RESUMO

Background/Aims: Since available data on pediatric non-erosive esophageal phenotypes (NEEPs) are scant, we investigated their prevalence and the phenotype-dependent treatment response in these children. Methods: Over a 5-year period, children with negative upper endoscopy, who underwent esophageal pH-impedance (off-therapy) for persisting symptoms not responsive to proton pump inhibitor (PPI)-treatment, were recruited. Based on the results of acid reflux index (RI) and symptom association probability (SAP), patients were categorized into: (1) abnormal RI (non-erosive reflux disease [NERD]), (2) normal RI and abnormal SAP (reflux hypersensitivity [RH]), (3) normal RI and normal SAP (functional heartburn [FH]), and (4) normal RI and not-reliable SAP (normal-RI-not otherwise-specified [normal-RI-NOS]). For each subgroup, treatment response was evaluated. Results: Out of 2333 children who underwent esophageal pH-impedance, 68 cases, including 18 NERD, 14 RH, 26 FH, and 10 normal-RI-NOS were identified as fulfilling the inclusion criteria and were analyzed. Considering symptoms before endoscopy, chest pain was more reported in NERD than in other cases (6/18 vs 5/50, P = 0.031). At long-term follow-up of 23 patients (8 NERD, 8 FH, 2 RH, and 5 normal-RI-NOS): 17 were on PPIs and 2 combined alginate, 1 (FH) was on benzodiazepine + anticholinergic, 1 (normal-RI-NOS) on citalopram, and 3 had no therapy. A complete symptom-resolution was observed in 5/8 NERD, in 2/8 FH, and in 2/5 normal-RI-NOS. Conclusions: FH may be the most common pediatric NEEP. At long-term follow-up, there was a trend toward a more frequent complete symptom resolution with PPI-therapy in NERD patients while other groups did not benefit from extended acid-suppressive-treatment.

9.
Viruses ; 15(2)2023 01 19.
Artigo em Inglês | MEDLINE | ID: mdl-36851494

RESUMO

The restrictive measures adopted worldwide against SARS-CoV-2 produced a drastic reduction in respiratory pathogens, including RSV, but a dramatic rebound was thereafter reported. In this multicenter retrospective observational study in 15 Pediatric Emergency Departments, all children <3 years old with RSV infection admitted between 1 September and 31 December 2021 were included and compared to those admitted in the same period of 2020 and 2019. The primary aim was to evaluate RSV epidemiology during and after the COVID-19 pandemic peak. The secondary aims were to evaluate the clinical features of children with RSV infection. Overall, 1015 children were enrolled: 100 in 2019, 3 in 2020 and 912 in 2021. In 2019, the peak was recorded in December, and in 2021, it was recorded in November. Comparing 2019 to 2021, in 2021 the median age was significantly higher and the age group 2-3 years was more affected. Admissions were significantly higher in 2021 than in 2020 and 2019, and the per-year hospitalization rate was lower in 2021 (84% vs. 93% in 2019), while the duration of admissions was similar. No difference was found in severity between 2019-2020-2021. In conclusion, after the COVID-19 pandemic, an increase in RSV cases in 2021 exceeding the median seasonal peak was detected, with the involvement of older children, while no difference was found in severity.


Assuntos
COVID-19 , Infecções por Vírus Respiratório Sincicial , Criança , Humanos , Adolescente , Pré-Escolar , COVID-19/epidemiologia , SARS-CoV-2 , Pandemias , Infecções por Vírus Respiratório Sincicial/epidemiologia , Serviço Hospitalar de Emergência
10.
Neurogastroenterol Motil ; 35(3): e14365, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35340083

RESUMO

BACKGROUND: IBS affects a large number of children throughout the world and is thought to be the result of disturbed neuroimmune function along with the brain-gut axis. Although the underlying pathophysiologic mechanisms are not clear, the role of low-grade inflammation and mucosal immune activation in IBS symptom generation has become evident also in subsets of pediatric patients. Animal models provided meaningful insight in the causal relationship between abnormal mucosal immune activation and changes in gastrointestinal (GI) sensory-motor function. Likewise, the development of long-standing GI symptoms fulfilling the current criteria for functional GI disorders after infection gastroenteritis and in patients with IBD or celiac disease in remission further supports this hypothesis. Immune activation, its impact on gut sensory-motor function, and potential implications for symptom generation emerged in both children and adults with IBS. PURPOSE: The aim of this review is to summarize the main evidence on the presence of low-grade inflammation and immune activation in children with IBS, its possible role in symptom generation, and its potential implication for new therapeutic strategies.


Assuntos
Gastroenterite , Síndrome do Intestino Irritável , Animais , Inflamação , Modelos Animais
11.
Dig Endosc ; 35(5): 606-612, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36411968

RESUMO

OBJECTIVES: Polyethylene glycol (PEG) split-dose regimen is recommended as the option of choice for colon preparation before colonoscopy in children and adults. Sodium picosulfate plus magnesium citrate (SPMC) is equally effective but better tolerated than PEG for bowel preparation before colonoscopy in children. The aim of this study was to assess the superiority of SPMC split-dose regimen compared with SPMC day-before regimen for bowel cleansing before colonoscopy in children. METHODS: This was a multicenter, randomized, single-blind study. Pediatric inpatients undergoing colonoscopy received SPMC either in the day-before dosing or in split dosing. Overall bowel cleansing was assessed using the Boston Bowel Preparation Scale (BBPS) and was rated as successful when BBPS was ≥6. Patient tolerability, acceptability, and compliance were recorded. RESULTS: The rate of successful cleansing level was significantly higher in the split-dose group than in the day-before group (P < 0.001). The BBPS scores were significantly higher in the split-dose group than in the day-before group for the whole colon (P < 0.001), the right colon (P < 0.001) and transverse colon (P < 0.001). Patient acceptability was better in the split-dose group (P = 0.0003; P = 0.005). The percentage of children needing nasogastric tube placement was better in the split-dose group (P = 0.007). CONCLUSIONS: The split-dose regimen of SPMC was superior to the day-before regimen in terms of successful colon cleansing and acceptability.


Assuntos
Catárticos , Colonoscopia , Adulto , Criança , Humanos , Método Simples-Cego , Polietilenoglicóis
12.
Inflamm Bowel Dis ; 29(9): 1380-1389, 2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36222487

RESUMO

BACKGROUND: Exclusive enteral nutrition (EEN) is the first choice to induce remission and promote mucosal healing in pediatric Crohn's disease (CD). However, full adherence to EEN treatment may be problematic for children with CD. METHODS: The goal of the current multicenter retrospective study was to define predictive factors of nonadherence to treatment and nonremission at the end of induction treatment. Those data together were analyzed with the ultimate goal of trying to define an individualized induction treatment for children with CD. RESULTS: Three hundred seventy-six children with CD from 14 IBD pediatric referral centers were enrolled in the study. The rate of EEN adherence was 89%. Colonic involvement and fecal calprotectin >600 µg/g at diagnosis were found to be associated with a reduced EEN adherence. Exclusive enteral nutrition administered for 8 weeks was effective for inducing clinical remission in 67% of the total cohort. Factors determining lower remission rates were age >15 years and Pediatric Crohn's Disease Activity Index >50. CONCLUSION: Although EEN is extremely effective in promoting disease remission, several patients' related factors may adversely impact EEN adherence and response. Personalized treatments should be proposed that weigh benefits and risks based on the patient's disease location, phenotype, and disease activity and aim to promote a rapid control of inflammation to reduce long-term bowel damage.


Assuntos
Doença de Crohn , Humanos , Criança , Adolescente , Doença de Crohn/terapia , Doença de Crohn/diagnóstico , Nutrição Enteral , Estudos Retrospectivos , Indução de Remissão
13.
Inflamm Bowel Dis ; 29(7): 1057-1064, 2023 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-35942651

RESUMO

BACKGROUND: Scarce data have investigated the association between pediatric inflammatory bowel disease (IBD) and eosinophilic esophagitis (EoE). We, therefore, aimed to describe the epidemiology and the possible peculiar phenotype and natural history of such an association. METHODS: Case-control study is based on the Italian Society for Pediatric Gastroenterology (SIGENP) national registry. All children with a combined diagnosis of IBD and EoE were included. The overall prevalence and incidence in 2 periods, 2009 to 2015, and 2016 to 2021, were calculated. Cases were matched with IBD only and EoE only patients in a 1:3:3 ratio. Phenotype and outcomes (courses of steroids, risk of complications, surgery, treatment escalation, and hospitalization) were compared between groups. RESULTS: Eleven patients (age 11.2 ±â€…2.8 years, Males 91%) with EoE-IBD out of 3090 patients with IBD were identified, resulting in an overall prevalence of 0.35% and an incidence of 0.18% for 2009 to 2015 and 0.45% for 2016 to 2021. Treatment escalation rates for IBD were significantly higher in patients with IBD compared with EoE-IBD at 12- and 24-month follow-up (0% vs 30%, P = .04; and 9% vs 45.5%, P = .03, respectively). Furthermore, patients with IBD were at a significantly higher risk of hospitalization than both EoE-IBD and EoE patients (log rank P < .001). We found no significant differences in major outcomes related to the EoE course in EoE-IBD patients compared with EoE ones. CONCLUSIONS: The incidence and prevalence of EoE in children with IBD are low, although the incidence seems to be rising in recent years. Having EoE appears to be associated with a milder IBD disease course, whereas having IBD does not seem to affect the natural history of EoE. More data are needed to better define the phenotype of such association.


We investigated the association between pediatric inflammatory bowel disease (IBD) and eosinophilic esophagitis (EoE). Our results showed that having an EoE might be associated with a milder IBD disease course, but larger cohort analyses are needed to confirm such result.


Assuntos
Esofagite Eosinofílica , Doenças Inflamatórias Intestinais , Masculino , Humanos , Esofagite Eosinofílica/complicações , Esofagite Eosinofílica/epidemiologia , Estudos de Casos e Controles , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/epidemiologia
14.
J Robot Surg ; 17(3): 897-904, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36334254

RESUMO

Robotic surgery has been increasingly applied to Hirschsprung patients with encouraging results. We report the results of a 5 year unicentric experience. All consecutive HSCR patients older than 12 months who underwent a surgical procedure with robotic approach between September 2017 and August 2022 were prospectively included. We collected data regarding demographics, extent of aganglionosis, associated anomalies, indications to surgery, and a number of perioperative data such as surgical details, intraoperative and perioperative complications, length of surgery, length of hospital stay, and functional outcome. A total of 28 patients underwent 31 robotic procedures during the study period. Median age at surgery was 82 months. Eleven primary Totally Robotic Soave Pull-Through, 12 redoes, 5 innervative mapping, 2 redundant rectal pouch excision, and 1 Miles' procedures have been performed. Median console time was 145 min. No conversion to either laparoscopy nor to laparotomy was required. Median length of hospital stay was 6 days. Two patients experienced complications requiring reiterative surgery. One patient experienced mild postoperative enterocolitis. Normal continence was achieved by 70% of patients after a median of 16 months postoperatively (80% for primary pull-throughs, 55% for redoes). To conclude, robotic surgery for older HSCR patients proved to be feasible, safe, and effective. Patients with complex surgical requirements seem to benefit most from this promising approach. Provided the economic burden is addressed and solved, robotic surgery will represent an excellent alternative for the surgical treatment of HSCR patients.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório , Doença de Hirschsprung , Laparoscopia , Procedimentos Cirúrgicos Robóticos , Robótica , Humanos , Criança , Doença de Hirschsprung/cirurgia , Doença de Hirschsprung/etiologia , Procedimentos Cirúrgicos Robóticos/métodos , Procedimentos Cirúrgicos do Sistema Digestório/métodos
15.
Viruses ; 16(1)2023 12 26.
Artigo em Inglês | MEDLINE | ID: mdl-38257741

RESUMO

To carry out effective and quick identification of SARS-CoV-2 from nasopharyngeal swabs and contain outbreaks, reliable and rapid tools are needed. Herein, we compared a rapid antigen test based on active microfluidic technology to an RT-qPCR assay in pediatric and young adult patients admitted to the Pediatric Emergency Unit of a Children's Hospital. Nasopharyngeal swabs collected from patients with suspected COVID-19 disease and from those without COVID-19 related symptoms, but requiring hospitalization, were performed with both antigen test and RT-qPCR assays. We included 375 patients with a median age of 5 years in the study, with an estimated overall prevalence of 7.2%. Overall, we observed a specificity of 97.4% (95% CI: 94.9-98.7) and a sensitivity of 66.6% (95% CI: 46.0-82.7) with a positive likelihood ratio (LR+) of 25.8 (95% CI: 12.8-51.8). In the subgroup of symptomatic patients, the specificity and the sensitivity were 95.2% (95% CI: 89.4-98.0) and 80.0% (95% CI: 44.2-96.5) respectively; LR+ was 16.6 (95% CI: 7.19-38.6). In the asymptomatic subset, the performance showed a specificity of 98.7% (95% CI: 95.8-99.7), a sensitivity of 58.8% (95% CI: 33.5-80.6), and an LR+ of 43.7 (95% CI: 13.3-144.0). Compared to RT-qPCR, the new microfluidic-based antigen test showed higher specificity (>95%) in the pediatric population, thus representing a suitable point-of-care testing (POCT) in a clinical setting with low prevalence of COVID-19.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , Criança , Adulto Jovem , Pré-Escolar , SARS-CoV-2/genética , Microfluídica , COVID-19/diagnóstico , COVID-19/epidemiologia , Antígenos Virais , Tecnologia , Imunoensaio
16.
Genes (Basel) ; 13(12)2022 11 23.
Artigo em Inglês | MEDLINE | ID: mdl-36553457

RESUMO

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by enzyme deficiencies required for cortisol biosynthesis in the adrenal cortex. The majority of CAH are due to the deficiency of the 21-hydroxylase enzyme, while 3ß-hydroxysteroid dehydrogenase type 2 deficiency accounts for less than five percent of all CAH cases. We report two Moroccan twins from a spontaneous triplet pregnancy. The 46,XY newborn exhibited a disorder of sexual differentiation (DSD) with hypo virilization, while the 46,XX newborn had normal female external genitalia. In the first week of life, they showed hyponatremia and primary adrenal insufficiency with a slight 17OHP elevation and increased DHEAS and renin levels. The aCGH-SNP analysis disclosed a 8.36 Mb long contiguous stretch of homozygosity (LCSH) on chromosome 1p13.2-p11.2 including the candidate HSD3B2 gene, a LCSH of 7.3 Mb on 14q31.1-q32.11, and a 7 Mb duplication on 10q22.3-q23.2. Clinical exome sequencing revealed the biallelic c.969T > G (p.Asn323Lys) HSD3B2, likely pathogenic, variant in both of the affected twins. This case emphasizes the importance of a prompt molecular diagnosis performed through the combination of aCGH and clinical exome, both for establishment of correct therapy and for follow-up, as the newborns also carry a genomic rearrangement with possible clinical implications.


Assuntos
Hiperplasia Suprarrenal Congênita , Feminino , Humanos , Recém-Nascido , Hiperplasia Suprarrenal Congênita/genética , Hiperplasia Suprarrenal Congênita/diagnóstico , Progesterona Redutase/genética , Virilismo , Gêmeos
17.
Artigo em Inglês | MEDLINE | ID: mdl-36534066

RESUMO

BACKGROUND: Urinary tract infections (UTIs) are a frequent disorder of childhood, mainly caused by Escherichia coli. The aim of this study was to evaluate the antimicrobial susceptibility trend in bacterial isolates in urine cultures in pediatric environment, analyzing data from our laboratory in a 6-year period. METHODS: A retrospective study was performed in AO SS. Antonio e Biagio e Cesare Arrigo (Pediatric Hospital) of Alessandria in Piedmont, North Ital. From 2015 to 2020, in a 6-year period, 1299 urinocultures were collected. Data collection was focused on demographic characteristics (age and sex) and laboratory findings (positive urocultures, antibiogram). RESULTS: Positive urocultures were 577, in which Escherichia coli represented most isolates (428, 74.2%). We found a statistically significant trend toward amoxiclavulanate resistance in the E. coli positive urinoculture comparing the period 2015-2018 vs. 2019-2020. CONCLUSIONS: Actual guidelines mostly recommend for amoxicillin-clavulanate prescription as first-line option for pediatric UTI management, this indication might be partially reconsidered. Our data underline the importance to conduct surveillance studies to determine local prevalence of antibiotic resistance to optimize therapeutic management.

18.
Ital J Pediatr ; 48(1): 156, 2022 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-36042474

RESUMO

BACKGROUND: Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and therapeutic approach to CVS among Italian tertiary care centers and the differences according to subspecialties, as well as to explore whether potential predictive factors associated with either a poor outcome or a response to a specific treatment. METHODS: Cross-sectional multicenter web-based survey involving members of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP). RESULTS: A total of 67 responses were received and analyzed. Most of the respondent units cared for less than 20 patients. More than half of the patients were referred after 3 to 5 episodes, and a quarter after 5 attacks. We report different diagnostic approaches among Italian clinicians, which was particularly evident when comparing gastroenterologists and neurologists. Moreover, our survey demonstrated a predilection of certain drugs during emetic phase according to specific clinic, which reflects the cultural background of physicians. CONCLUSION: In conclusion, our survey highlights poor consensus amongst clinicians in our country in the diagnosis and the management of children with CVS, raising the need for a national consensus guideline in order to standardize the practice.


Assuntos
Ciências da Nutrição Infantil , Gastroenterologia , Pesquisas sobre Atenção à Saúde , Neurologia , Pediatria , Sociedades Médicas , Vômito , Criança , Estudos Transversais , Humanos , Itália , Guias de Prática Clínica como Assunto/normas , Resultado do Tratamento
19.
Pediatr Emerg Care ; 38(5): e1245-e1250, 2022 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-35482500

RESUMO

OBJECTIVES: Infantile acute upper gastrointestinal bleeding involves a decision for therapeutic intervention that most pediatricians first coming into contact with the patient are, not unreasonably, unable to objectively provide. Therefore, some objective tools of individual risk assessment would seem to be crucial. The principal aim of the present study was to investigate the anamnestic and clinical parameters of infants with hematemesis, together with laboratory and instrumental findings, to create a scoring system that may help identify those infants requiring an appropriate and timely application of upper gastrointestinal (GI) endoscopy. METHODS: Clinical data of infants admitted for hematemesis to the participating centers over the study period were systematically collected. According to the outcome dealing with rebleeding, need for blood transfusion, mortality, finding of GI bleeding lesions, or need for surgical intervention, patients were blindly divided into a group with major clinical severity and a group with minor clinical severity. Univariate and multivariate logistic regressions were conducted to investigate significant prognostic factors for clinical severity. RESULTS: According to our findings, we drafted a practical diagnostic algorithm and a clinical score able to predict the need for timely upper GI endoscopy (BLOVO infant score). Our clinical scoring system was created by incorporating anamnestic factors, clinical parameters, and laboratory findings that emerged as predictors of a worst outcome. CONCLUSIONS: We provided the first objective tool of individual risk assessment for infants with hematemesis, which could be very useful for pediatricians first coming into contact with the patient in the emergency department.


Assuntos
Endoscopia Gastrointestinal , Hematemese , Transfusão de Sangue , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/terapia , Hematemese/diagnóstico , Hematemese/etiologia , Hematemese/terapia , Humanos , Lactente , Medição de Risco
20.
Dig Liver Dis ; 54(5): 572-579, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35361566

RESUMO

BACKGROUND: Aim of the present report was to investigate the repercussions of COVID-19 pandemic on the procedural volumes and on the main indications of pediatric digestive endoscopy in Italy. METHODS: An online survey was distributed at the beginning of December 2020 to Italian digestive endoscopy centers. Data were collected comparing two selected time intervals: the first from 1st of February 2019 to 30th June 2019 and the second from 1st February 2020 to 30th June 2020. RESULTS: Responses to the survey came from 24 pediatric endoscopy Units. Globally, a reduction of 37.2% was observed between 2019 and 2020 periods with a significant decrease in median number of procedures (111 vs 57, p < 0.001). Both the median number of procedures performed for new diagnoses and those for follow-up purposes significantly decreased in 2020 (63 vs 36, p < 0.001 and 42 vs 21, p< 0.001, respectively). We reported a drastic reduction of procedures performed for suspected Celiac Disease and Functional Gastrointestinal Disorders (55.1% and 58.0%, respectively). Diagnostic endoscopies for suspected IBD decreased of 15.5%, whereas procedures for Mucosal Healing (MH) assessment reduced of 48.3%. CONCLUSIONS: Our study provides real-world data outlining the meaningful impact of COVID-19 on pediatric endoscopy practice in Italy.


Assuntos
COVID-19 , Criança , Endoscopia , Endoscopia Gastrointestinal , Humanos , Pandemias/prevenção & controle , SARS-CoV-2 , Inquéritos e Questionários
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