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1.
Pediatr Nephrol ; 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38954039

RESUMO

Chronic kidney disease (CKD) encompasses diverse conditions such as congenital anomalies, glomerulonephritis, and hereditary nephropathies, necessitating individualized nutritional interventions. Early detection is pivotal due to the heightened risk of adverse outcomes, including compromised growth and increased healthcare costs. The nutritional assessment in pediatric CKD employs a comprehensive, multidisciplinary approach, considering disease-specific factors, growth metrics, and dietary habits. The prevalence of malnutrition, as identified through diverse tools and guidelines, underscores the necessity for regular and vigilant monitoring. Nutritional management strategies seek equilibrium in calorie intake, protein requirements, and electrolyte considerations. Maintaining a well-balanced nutritional intake is crucial for preventing systemic complications and preserving the remaining kidney function. The nuanced landscape of enteral nutrition, inclusive of gastrostomy placement, warrants consideration in scenarios requiring prolonged support, with an emphasis on minimizing risks for optimized outcomes. In conclusion, the ongoing challenge of managing nutrition in pediatric CKD necessitates continuous assessment and adaptation. This review underscores the significance of tailored dietary approaches, not only to foster growth and prevent complications but also to enhance the overall quality of life for children grappling with CKD.

2.
J Pediatr Gastroenterol Nutr ; 76(5): 590-595, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-36754082

RESUMO

OBJECTIVES: Data on the phenotypes and disease outcomes of very early-onset inflammatory bowel disease (VEO-IBD) are limited. The aims of this study were to describe the clinical features, outcomes, and treatment response of VEO-IBD patients and to compare them with later-onset pediatric inflammatory bowel disease (P-IBD) patients. METHODS: All consecutive patients aged 0-6 years who were diagnosed with Crohn disease (CD), ulcerative colitis, or IBD unclassified (IBD-U) at 2 academic hospitals from 2010 to March 2021 were included. They were compared to sex-matched IBD patients aged 6-17 years. RESULTS: Two hundred thirty-two patients were included, 78 (34%) with VEO-IBD and 154 (66%) with P-IBD. IBD-U was the most common diagnosis in the VEO-IBD group compared to P-IBD (28% vs 3%, P < 0.001), while CD was predominant in older children (27% vs 52%, P < 0.001). The VEO-IBD group showed lower rates of clinical remission after induction with steroids compared to older children (82% vs 93%, P = 0.01), higher rates of steroid resistance (14% vs 5%, P = 0.02), and steroid dependence (27% vs 8%, P < 0.001). The number of patients who started anti-tumor necrosis factor (TNF)-α agents was similar between the groups. Anti-TNF-α retention was lower in the VEO-IBD group at 1 and 2 years (59% vs 85%, P = 0.003; 16% vs 55%, P < 0.001, respectively). Surgical risk appeared to be higher for VEO-IBD (32% vs 14%, P < 0.001). CONCLUSIONS: When compared to P-IBD patients, patients with VEO-IBD may have a more severe disease course, a poorer response to steroids and anti-TNF-α agents, and require more frequent surgical procedures.


Assuntos
Colite Ulcerativa , Doença de Crohn , Doenças Inflamatórias Intestinais , Humanos , Inibidores do Fator de Necrose Tumoral/uso terapêutico , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças Inflamatórias Intestinais/genética , Colite Ulcerativa/diagnóstico , Colite Ulcerativa/tratamento farmacológico , Colite Ulcerativa/genética , Doença de Crohn/diagnóstico , Doença de Crohn/tratamento farmacológico , Doença de Crohn/genética , Fator de Necrose Tumoral alfa/uso terapêutico
3.
J Pediatr Gastroenterol Nutr ; 77(6): e75-e83, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37705405

RESUMO

Refeeding syndrome (RS) is characterized by electrolyte imbalances that can occur in malnourished and abruptly refed patients. Typical features of RS are hypophosphatemia, hypokalemia, hypomagnesemia, and thiamine deficiency. It is a potentially life-threatening condition that can affect both adults and children, although there is scarce evidence in the pediatric literature. The sudden increase in food intake causes a shift in the body's metabolism and electrolyte balance, leading to symptoms such as weakness, seizures, and even heart failure. A proper management with progressive increase in nutrients is essential to prevent the onset of this condition and ensure the best possible outcomes. Moreover, an estimated incidence of up to 7.4% has been observed in pediatric intensive care unit patients receiving nutritional support, alone or as an adjunct. To prevent RS, it is important to carefully monitor feeding resumption, particularly in severely malnourished individuals. A proper strategy should start with small amounts of low-calorie fluids and gradually increasing the calorie content and amount of food over several days. Close monitoring of electrolyte levels is critical and prophylactic use of dietary supplements such as thiamine may be required to correct any imbalances that may occur. In this narrative review, we aim to provide a comprehensive understanding of RS in pediatric clinical practice and provide a possible management algorithm.


Assuntos
Hipofosfatemia , Desnutrição , Síndrome da Realimentação , Desequilíbrio Hidroeletrolítico , Humanos , Criança , Síndrome da Realimentação/etiologia , Síndrome da Realimentação/prevenção & controle , Síndrome da Realimentação/diagnóstico , Desnutrição/complicações , Desnutrição/terapia , Apoio Nutricional , Desequilíbrio Hidroeletrolítico/etiologia , Hipofosfatemia/terapia , Hipofosfatemia/complicações , Eletrólitos
4.
J Paediatr Child Health ; 59(3): 458-463, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36624990

RESUMO

AIM: Melatonin seems to have a positive impact on the brain-gut axis and many direct and indirect effects on the gastrointestinal tract. This trial aimed at assessing the efficacy of melatonin combined with Lactobacillus Rhamnosus GG given in the treatment of paediatric patients with functional abdominal pain disorders. METHODS: Forty-two patients aged 4-18 years old who fulfilled the Rome IV Diagnostic Criteria for functional abdominal pain disorders were enrolled. Melatonin 3 or 5 mg in combination with Lactobacillus Rhamnosus GG (group 1, n = 22) or a placebo in combination with Lactobacillus Rhamnosus GG (control group, n = 20) were taken in the evening for a period of 4 weeks. The study duration was 12 weeks. The primary study endpoint was represented by clinical improvement at week 12 - defined as at least a 50% reduction in mean abdominal pain index (API) from baseline to week 12. RESULTS: The mean API was reduced by more than 50% between T0 and T2 in the group of children treated with melatonin. However, the difference in the distributions of the variations of the scores between the two groups was not significant between T0 and T2 (P = 0.082), while it was significant between T0 and T1 (P = 0.001). Similar results were obtained by analysing the API variables 'weekly frequency of pain' (item 1) and 'perceived intensity of pain' (item 4) individually. CONCLUSIONS: This is the first study to investigate the role of the combination of melatonin and Lactobacillus Rhamnosus GG in the treatment of children with functional abdominal pain disorders. Melatonin combined with Lactobacillus Rhamnosus GG can be considered a therapeutic option for these conditions in children.


Assuntos
Lacticaseibacillus rhamnosus , Melatonina , Probióticos , Humanos , Criança , Pré-Escolar , Adolescente , Melatonina/uso terapêutico , Dor Abdominal/tratamento farmacológico , Trato Gastrointestinal , Probióticos/uso terapêutico , Método Duplo-Cego , Resultado do Tratamento
5.
J Pediatr Gastroenterol Nutr ; 74(2): 258-266, 2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-34694270

RESUMO

OBJECTIVES: Adult studies suggest that patients with isolated colonic Crohn disease (L2 CD) exhibit unique characteristics differentiating them from patients with ileo-caecal (L1) CD and ulcerative colitis (UC). We aimed to characterize clinical features and outcomes of paediatric patients with L2. METHODS: Retrospective data was collected through the Porto Inflammatory Bowel Disease group of the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) on Paediatric patients with L2, L1 or UC at different time-points. Outcome measures included time to first flare, hospital admissions, initiation of anti-tumor necrosis factor-alpha (TNFα) drug, stricture and surgery. RESULTS: Three hundred patients were included: 102 L1, 94 L2 and 104 UC. Rates of hematochezia at presentation were 14.7%, 44.7% and 95.2%, while rates of fever were 12.7%, 26.6% and 2.9%, for patients with L1, L2 and UC, respectively (P < 0.001 for all comparisons). Skip lesions were identified in 65% of patients with L2, and granulomas in 36%, similar to L1 patients. Rates of anti-Saccharomyces cerevisiae antibodies (ASCA) and perinuclear antineutrophil cytoplasmic (pANCA) positivity significantly differed between the three groups: 25.4% and 16.7% for patients with L2, compared with 55.2% and 2.3%, and 1.8% and 52.9% for patients with L1 and UC, respectively. Response rates to exclusive enteral nutrition were comparable between L1 and L2 (78.3-82.4%), as was the response to oral steroids (70.4-76.5%) in the three groups. While times to first flare and admission were similar between groups, patients with L1 were commenced on anti-TNFα earlier. Moreover, stricturing phenotype and need for colectomy were very rare in patients with L2. CONCLUSIONS: Significant differences are observed in the clinical presentation and outcomes of Paediatric patients with L2, compared to patients with L1 and UC.


Assuntos
Colite Ulcerativa , Doença de Crohn , Anticorpos Anticitoplasma de Neutrófilos , Anticorpos Antifúngicos , Criança , Colite Ulcerativa/diagnóstico , Doença de Crohn/diagnóstico , Doença de Crohn/terapia , Diagnóstico Diferencial , Humanos , Estudos Retrospectivos , Saccharomyces cerevisiae
6.
J Clin Pharm Ther ; 47(2): 254-256, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34278581

RESUMO

WHAT IS KNOWN AND OBJECTIVE: The off-label use of vedolizumab (VDZ) for inflammatory bowel disease in children is increasing. We report on possibly the first case of VDZ-associated pulmonary manifestations in paediatrics. CASE SUMMARY: This report details the case of a 13-year-old child with ulcerative colitis who was initiated on VDZ due to persistent active disease. After the first three doses, he developed a persistent and productive cough. Microbiological work-up was normal. VDZ discontinuation led to the resolution of symptoms. WHAT IS NEW AND CONCLUSION: To our knowledge, this is the first case report of VDZ-associated pulmonary manifestations in paediatrics. A direct, pro-inflammatory effect of VDZ has been hypothesized, but further studies are warranted.


Assuntos
Anticorpos Monoclonais Humanizados/efeitos adversos , Colite Ulcerativa/tratamento farmacológico , Fármacos Gastrointestinais/efeitos adversos , Transtornos Respiratórios/induzido quimicamente , Adolescente , Anticorpos Monoclonais Humanizados/uso terapêutico , Tosse/induzido quimicamente , Tosse/fisiopatologia , Fármacos Gastrointestinais/uso terapêutico , Humanos , Sons Respiratórios/fisiopatologia
7.
Pediatr Emerg Care ; 38(1): e268-e271, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-32970025

RESUMO

BACKGROUND: Foreign body (FB) ingestion is a common global issue in pediatrics. Most of the ingested FBs pass through the gastrointestinal tract, but up to 20% of cases require endoscopic removal. In this study, we retrospectively reviewed all pediatric cases of FB ingestion requiring endoscopic removal over a 10-year period in a tertiary hospital to compare the symptoms at presentation and outcomes with those reported in previous studies and to assess the association of the outcomes with patient and FB characteristics. METHODS: A retrospective chart review of children 16 years or younger who underwent upper endoscopy for FB ingestion from 2008 to 2018 in a tertiary hospital was included. Data on demographics, clinical presentation, characteristics of FBs, endoscopic findings, and outcomes were reviewed. The clinical data were further evaluated to determine the circumstances surrounding FB ingestion, FB management, and patient outcomes. Descriptive analysis of the data was performed using medians, frequencies, and percentage; χ2 or Fisher exact test was used to assess the dependence between categorical variables. RESULTS: Eighty-six patients (median age, 5.1 years; 67% males) underwent endoscopy for suspected FB ingestion, with a confirmation rate of 91%. Coins were the most commonly ingested FBs (n = 49, 57%). Most patients were symptomatic (84%); 97% of patients in whom the FB had an esophageal location and all patients in whom the FB was not detected by endoscopy were symptomatic (P = 0.007). The most frequent symptoms were drooling (70%) and unexplained crying (48%). Unexplained crying was more common in younger than in older patients (P < 0.001). The FB was more likely to be located in the esophagus in patients with drooling (P < 0.001) and dysphagia (P < 0.001). The distribution of FB location differed according to the FB type, with coins most frequently located in the esophagus and sharp and other FBs in the stomach (P = 0.023). Only 7 patients (8%) developed mild FB-related mucosal injury. No complications occurred during FB removal. All patients had an uneventful outcome. CONCLUSIONS: Foreign body ingestion is common among younger children, and the clinical presentation can be variable. The presence or absence of symptoms, as well as the type of symptom, could aid clinicians in implementing diagnosis and proper management approaches in patients who ingest FBs requiring endoscopy.


Assuntos
Corpos Estranhos , Pediatria , Idoso , Criança , Pré-Escolar , Ingestão de Alimentos , Endoscopia Gastrointestinal , Feminino , Corpos Estranhos/diagnóstico , Corpos Estranhos/epidemiologia , Corpos Estranhos/cirurgia , Trato Gastrointestinal , Humanos , Masculino , Estudos Retrospectivos
8.
J Pediatr Gastroenterol Nutr ; 72(1): 135-140, 2021 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-32810034

RESUMO

OBJECTIVES: The aims of the present study were to assess the efficacy of a tube weaning program, and to identify factors associated with success and failure. METHODS: This was a retrospective cohort study including all pediatric patients on enteral nutrition (EN) for ≥6 months for whom at least 1 attempt of weaning was performed in a single tertiary referral center from 2012 to 2017, with a minimum follow-up of 6 months after EN discontinuation. Weaning program was individualized to each child. Weaning success was defined a priori. Factors associated with success were investigated using multivariate analysis. RESULTS: Ninety-four patients were enrolled, in whom a total of 114 attempts of weaning were performed at a median age of 51 ±â€Š40 months. Success was achieved in 80 attempts (success rate of 70%). One hundred three (92%) weaning attempts were performed at home with a follow-up in the outpatient clinic, mostly (74%) by a progressive (>1 month) reduction of tube feeding. Patients who required psychological support during weaning had more failures than patients who did not (odds ratio = 5.7, 95% confidence interval [1.2-27.0], P = 0.03). The presence of impaired oral feeding skills at the time of EN discontinuation was also predictive of failure (odds ratio = 6.2, 95% confidence interval [0.05-0.5], P = 0.005). CONCLUSIONS: Our progressive, mostly outpatient-based, patient-tailored program of weaning from EN is effective for tube-dependent children. Children who need psychological support during weaning and those who present impaired oral feeding skills represent a subgroup of at-risk patients for whom alternative weaning strategies may need to be considered.


Assuntos
Nutrição Enteral , Comportamento Alimentar , Criança , Pré-Escolar , Humanos , Lactente , Estudos Retrospectivos , Centros de Atenção Terciária , Desmame
9.
J Pediatr Gastroenterol Nutr ; 72(4): e97-e101, 2021 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-33346573

RESUMO

OBJECTIVES: The main aim of this study was to determine the impact on clinical practice of the first European Society of Gastroenterology, Hepatology, and Nutrition (ESPGHAN) position paper on the diagnosis and management of nutritional and gastrointestinal problems in children with neurological impairment (NI). METHODS: In this pilot-study, a web-based questionnaire was distributed between November, 2019 and June, 2020, amongst ESPGHAN members using the ESPGHAN newsletter. Fifteen questions covered the most relevant aspects on nutritional management and gastrointestinal issues of children with NI. A descriptive analysis of responses was performed. RESULTS: A total of 150 health professionals from 23 countries responded to the survey. A considerable variation in clinical practice concerning many aspects of nutritional and gastrointestinal management of children with NI was observed. The most frequently used method for diagnosing oropharyngeal dysfunction was the direct observation of meals with or without the use of standardised scores (n = 103). Anthropometric measurements were the most commonly used tools for assessing nutritional status (n = 111). The best treatment for gastroesophageal reflux disease (GERD) was considered to be proton pump inhibitor therapy by most (n = 116) participants. Regarding tube feeding, nearly all respondents (n = 114) agreed that gastrostomy is the best enteral access to be used for long-term enteral feeding. Fundoplication was indicated at the time of gastrostomy placement especially in case of uncontrolled GERD. CONCLUSIONS: More studies are required to address open questions on adequate management of children with NI. Identifying knowledge gaps paves the way for developing updated recommendations and improving patient care.


Assuntos
Refluxo Gastroesofágico , Distúrbios Nutricionais , Criança , Fundoplicatura , Refluxo Gastroesofágico/complicações , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/terapia , Humanos , Projetos Piloto , Inquéritos e Questionários
10.
Eur J Pediatr ; 180(7): 2281-2286, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33728535

RESUMO

The aim of this study was to describe the frequency, major symptoms, and characteristics of colonic polyps in a cohort of children. A retrospective chart review of patients aged ≤ 18 years who were diagnosed with colonic polyp(s) from 2006 to 2019 in a tertiary hospital was included. Data collected included demographics, clinical presentation, interval of time between the onset of symptoms and the endoscopic diagnosis of colonic polyps, family history, characteristics of the polyp, and associated lesions. Over the study period, 35 Caucasian children were diagnosed with juvenile colonic polyps. Twenty-three patients (65.7%) were males. Lower gastrointestinal bleeding of a mean duration of 5.3 ± 4.9 months was the presenting symptom in nearly all cases (n = 34, 97%), and it was isolated in 17 patients. Clinical presentation did not significantly vary according to the age or the location or size of the polyp (p = 0.262, p = 1.000, and p = 0.149, respectively). The polyps were mainly located in the left colon (n = 29, 83%). Right colonic polyps were significantly larger than left colonic polyps (p = 0.037).Conclusion: Lower gastrointestinal bleeding represents the most common presentation of colonic polyps in children. Right-sided colonic polyps occur and may be even larger than left-sided ones. A total colonoscopy is therefore mandatory for all cases of suspected colonic polyps. This study represents a real-life contribution, and it can help improve the management strategies of this condition in childhood. What is Known: • Colonic polyps are quite common in children. • The majority of pediatric colonic polyps are solitary, benign, and located in the left colon. What is New: • Right-sided colonic polyps occur and may be even larger than left-sided ones. • A total colonoscopy is mandatory for all cases of suspected colonic polyps.


Assuntos
Pólipos do Colo , Criança , Estudos de Coortes , Colo , Pólipos do Colo/diagnóstico , Colonoscopia , Feminino , Humanos , Masculino , Estudos Retrospectivos
11.
Int J Food Sci Nutr ; 72(2): 145-147, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32527162

RESUMO

The appropriate age at introduction of complementary foods (CFs) has always been a matter of debate. The Panel on Nutrition, Novel Foods and Food Allergens (NDA) of the European Food Safety Authority (EFSA) recently produced a Scientific Opinion based on a systematic literature search, supporting the existence of an age range for the introduction of CFs, which vary according to the characteristics of the individual. Furthermore, it concluded that the early introduction of CFs is not associated with either adverse or beneficial health effects at any age. The introduction of foods of age-appropriate texture and nutritional properties might be enough for reaching both developmental and nutritional goals. Accordingly, complementary feeding could be implemented as an infant-tailored approach, guided by the acquisition of the neuromotor skills necessary to progress from a liquid to a diversified diet.


Assuntos
Fenômenos Fisiológicos da Nutrição do Lactente , Guias como Assunto , Humanos , Lactente , Fatores de Tempo
12.
Int J Mol Sci ; 22(9)2021 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-33922911

RESUMO

Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called "MAC spectrum". The KIF17 gene encodes the kinesin-like protein Kif17, a microtubule-based, ATP-dependent, motor protein that is pivotal for outer segment development and disc morphogenesis in different animal models, including mice and zebrafish. In this report, we describe a Sicilian family with two siblings affected with congenital coloboma, microphthalmia, and a mild delay of motor developmental milestones. Genomic DNA from the siblings and their unaffected parents was sequenced with a clinical exome that revealed compound heterozygous variants in the KIF17 gene (NM_020816.4: c.1255C > T (p.Arg419Trp); c.2554C > T (p.Arg852Cys)) segregating with the MAC spectrum phenotype of the two affected siblings. Variants were inherited from the healthy mother and father, are present at a very low-frequency in genomic population databases, and are predicted to be deleterious in silico. Our report indicates the potential co-segregation of these biallelic KIF17 variants with microphthalmia and coloboma, highlighting a potential conserved role of this gene in eye development across different species.


Assuntos
Coloboma/genética , Cinesinas/genética , Microftalmia/genética , Criança , Feminino , Variação Genética , Humanos , Lactente , Masculino , Linhagem
13.
J Clin Pharm Ther ; 45(6): 1228-1234, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32743840

RESUMO

WHAT IS KNOWN AND OBJECTIVE: Based on extrapolation, biosimilar infliximab (IFX) was approved to treat inflammatory bowel disease (IBD). The first studies in adults have shown similar efficacy and safety in comparison with reference drug. The aim of this review was to collect and evaluate all the literature data regarding the use of biosimilar IFX in paediatric IBD. METHODS: This article reviewed efficacy, immunogenicity and safety profile of biosimilar IFX in IBD paediatric patients through a comprehensive search of the published literature. RESULTS AND DISCUSSION: Eight papers were extracted and critically reviewed. Four paediatric studies (prospective, n = 3; retrospective, n = 1) assessed the induction efficacy of the biosimilar IFX. Clinical response and remission rates reported were 86%-90% and 67%-68%, respectively. No significant difference in clinical response and remission rates between the reference and biosimilar IFX groups was found at follow-up (range: 3-13 months). Similar findings were shown in the prospective studies (n = 4) conducted on patients elected to switch from reference IFX to its biosimilar. The most frequently reported adverse events (AEs) of biosimilar IFX were mild upper respiratory tract infections. Taking into account of all AEs coming from published data, biosimilar IFX seems to be as safe as its originator. Immunogenicity has not been significantly impacted by the switch from the reference drug. WHAT IS NEW AND CONCLUSION: To date, treatment with (or switch to) biosimilar IFX in paediatric patients with IBD have been successful, without affecting efficacy, immunogenicity or safety. However, further studies are warranted, including clinical trials and pharmacovigilance studies.


Assuntos
Medicamentos Biossimilares/administração & dosagem , Doenças Inflamatórias Intestinais/tratamento farmacológico , Infliximab/administração & dosagem , Medicamentos Biossimilares/efeitos adversos , Criança , Substituição de Medicamentos , Fármacos Gastrointestinais/administração & dosagem , Fármacos Gastrointestinais/efeitos adversos , Humanos , Infliximab/efeitos adversos , Resultado do Tratamento
14.
J Clin Pharm Ther ; 45(4): 819-821, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32298484

RESUMO

WHAT IS KNOWN AND THE OBJECTIVE: De novo Crohn's disease (CD) is an increasingly reported diagnosis after ileal pouch anal anastomosis (IPAA). Currently, no consensus exists on the best treatment strategy. CASE SUMMARY: This report details the case of a 5-year-old child with early-onset ulcerative colitis (UC) who developed findings compatible with CD 12 months after IPAA. Thalidomide therapy led to clinical and endoscopic remission without side effects at 6 months. WHAT IS NEW AND CONCLUSION: To our knowledge, this is the first report of thalidomide for treatment of de novo CD. Thalidomide therapy could be considered in patients with de novo CD, with similar indications of CD.


Assuntos
Colite Ulcerativa/cirurgia , Doença de Crohn/tratamento farmacológico , Complicações Pós-Operatórias/tratamento farmacológico , Proctocolectomia Restauradora/efeitos adversos , Talidomida/uso terapêutico , Pré-Escolar , Doença de Crohn/etiologia , Humanos , Masculino
15.
Minerva Pediatr ; 2020 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-32418405

RESUMO

BACKGROUND: Restorative proctocolectomy and ileal pouch-anal anastomosis (IPAA) is the recommended elective surgery for children with ulcerative colitis (UC). The aim of this study was to evaluate functional and long-term health-related quality of life (HRQoL) outcomes of surgery in paediatric patients with UC. METHODS: We reviewed the hospital records of all paediatric patients who had undergone surgery for UC between January 2009 and December 2016 in the Units of Paediatric Gastroenterology and Surgery, of both the University Hospital of Messina, and the Gaslini Children's Hospital of Genoa. Surgical treatment was represented by restorative proctocolectomy and laparoscopic IPAA. Patients and parents were interviewed by telephone before and after surgery and responded to the modified IMPACT III questionnaire about health outcomes and HRQoL. The questionnaire was scored on a five-point scale with higher scores indicating a better HRQoL. The total score ranged from 35 (worst HRQoL) to 175 (best HRQoL). RESULTS: Data were obtained in 30 patients (16 males), with a median age of 12 (range 3- 16). The median amount of time elapsed after the operation was 3 years (range 1-4.5). Preoperative scores were very low in all 4 domains of the questionnaire. Postoperatively, HRQoL measures improved significantly (p<0.05), on symptoms, school attendance, social activities, and emotional aspects. Overall, nearly all were completely satisfied with the outcome of surgery. CONCLUSIONS: Our data confirmed that surgical treatment improves the overall HRQoL in paediatric patients with UC.

16.
J Pediatr Gastroenterol Nutr ; 68(4): 466-471, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30540713

RESUMO

Vomiting is not only unpleasant for both children and families, but can lead to frequent hospital admission. The persistent vomiting hampers oral intake and increases the risk of dehydration, so the proper use of antiemetic drugs can be useful. The pharmacological treatment of vomiting in children remains a challenge for the pediatrician because several antiemetics are prescribed as "off-label," outside their authorized drug label. Domperidone and ondansetron are the most commonly known antiemetic drugs. A single oral dose of ondansetron has been shown to reduce the risk of recurrent vomiting, the need for intravenous fluids, and hospital admissions in children with acute gastroenteritis. There is enough evidence to support ondansetron administration in children, so the clinical use can be defined as "off-label/on evidence." This review aims to provide an overview of therapeutic use, safety, and main pharmacological properties of antiemetic drugs in children. A comprehensive search of published literature using the PubMed MEDLINE database was carried out to identify all articles published in English from 1998 to February 2018. At present time, the "off-label/on-evidence" use of some antiemetics could improve the success rate of oral rehydration therapy in pediatric emergency settings and to change the management of vomiting with the prevention of the complications.


Assuntos
Antieméticos/uso terapêutico , Ondansetron/uso terapêutico , Vômito/prevenção & controle , Criança , Humanos
17.
J Clin Pharm Ther ; 44(3): 482-485, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30815892

RESUMO

WHAT IS KNOWN AND THE OBJECTIVE: Low-grade evidence supports the use of newer biologics for otherwise refractory juvenile idiopathic arthritis (JIA)-associated uveitis, such as tocilizumab. CASE SUMMARY: This report details the cases of two adolescents whose severe JIA-associated uveitis was unresponsive to the first-line therapeutic approach. Tocilizumab therapy led to the remission of uveitis after a mean time of 3 weeks, and methotrexate was safely discontinued 1.5 years later. WHAT IS NEW AND CONCLUSION: To our knowledge, these are the first reports of successful methotrexate withdrawal during tocilizumab treatment of JIA-associated uveitis. The administration of tocilizumab without methotrexate could be considered in patients with JIA-associated uveitis unresponsive to conventional therapy.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Artrite Juvenil/tratamento farmacológico , Uveíte/tratamento farmacológico , Adolescente , Antirreumáticos/uso terapêutico , Criança , Feminino , Humanos , Imunossupressores/uso terapêutico , Metotrexato/uso terapêutico , Resultado do Tratamento
18.
Hum Mutat ; 39(2): 187-192, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29127725

RESUMO

We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain function and neurological diseases is unclear. We showed a reduction of mutant cDNA and perturbation of SHH signaling from patient-derived cell lines; furthermore, analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies-associated genes. We also characterized the neuronal phenotype of the Drosophila model using mutant mahe, the homolog of human DDX59, and showed that mahe loss-of-function mutant embryos exhibit impaired development of peripheral and central nervous system. Taken together, our results support a conserved role of this DEAD-box RNA helicase in neurological function.


Assuntos
RNA Helicases DEAD-box/genética , Mutação/genética , RNA Helicases/genética , Adulto , Sequência de Aminoácidos , Animais , Sistema Nervoso Central/metabolismo , Criança , Pré-Escolar , Drosophila/genética , Feminino , Mutação da Fase de Leitura/genética , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Adulto Jovem
19.
Dev Med Child Neurol ; 60(9): 892-896, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29806137

RESUMO

Neurological disability is often associated with feeding and gastrointestinal disorders leading to malnutrition and growth failure. Assessment of nutritional status represents the first step in the clinical evaluation of children with neurological disability. The European Society of Gastroenterology, Hepatology, and Nutrition (ESPGHAN) recently issued a consensus statement on gastrointestinal and nutritional management in children with neurological disability. Here we critically review and address implications of this consensus for clinical practice, including assessment and monitoring of nutritional status, definition of nutritional requirements, diagnosis and treatment of gastro-oesophageal reflux disease, and indications for and modalities of nutritional support. There is a strong evidence base supporting the ESPGHAN guidelines; their application is expected to lead to better management of this group of children. WHAT THIS PAPER ADDS: Assessment of nutritional status in children with neurological disability should include the evaluation of body composition. Standard polymeric formula via gastrostomy tube is an effective, long-term nutritional intervention. Tube feeding should be started early, before the development of malnutrition.


Assuntos
Gastroenteropatias/terapia , Desnutrição/terapia , Doenças do Sistema Nervoso/complicações , Criança , Gastroenteropatias/diagnóstico , Gastroenteropatias/etiologia , Humanos , Desnutrição/diagnóstico , Desnutrição/etiologia , Necessidades Nutricionais , Estado Nutricional , Apoio Nutricional
20.
Int J Clin Pract ; 72(6): e13093, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29691962

RESUMO

AIMS: Gastrointestinal symptoms and diseases represent one of the major reasons for paediatricians' requests for specialist consultations and hospital admissions. One fourth of annual medical consultations for children younger than 6 years can be attributed to gastrointestinal symptoms. High-quality guidelines have been validated worldwide to provide clinical recommendations and support healthcare providers' practice. Nevertheless, overall compliance to standards of care is unsatisfactory, and children with gastrointestinal symptoms frequently undergo expensive, useless specialist consultations and laboratory evaluations. The aim of this study is to review the main epidemiological and clinical aspects, together with management strategies, of the most common gastrointestinal symptoms in children, pointing out pitfalls and practical tips in primary care management, and providing correct indications for specialist consultations. METHODS: For this review, articles published in English from 2000 to January 2018 were identified from the PubMed/Medline (http://www.ncbi.nlm.nih.gov/pubmed/) database and selected on the basis of quality, relevance to the illness and importance in illustrating current management pathways. The search used the following keywords: gastrointestinal symptoms, functional gastrointestinal symptoms, children, primary care, specialist consultations and management. Particular emphasis was placed on evidence-based guidelines and high-quality studies. RESULTS: Functional gastrointestinal symptoms have a high impact on the quality of life of children and families and on healthcare costs. A complete medical history and clinical examination are often sufficient to guide the primary care provider in the diagnosis, further workup or referral to a paediatric gastroenterologist. CONCLUSION: Paediatric gastroenterology outpatients' clinics are among the most crowded specialists, and functional gastrointestinal symptoms and disorders are the most frequent reason for counselling. The number of specialist consultations could be reduced if guidelines were applied in primary care settings.


Assuntos
Gastroenteropatias , Atenção Primária à Saúde , Encaminhamento e Consulta , Criança , Gastroenteropatias/diagnóstico , Gastroenteropatias/epidemiologia , Gastroenteropatias/etiologia , Gastroenteropatias/terapia , Humanos , Lactente , Guias de Prática Clínica como Assunto , Pesquisa Qualitativa , Qualidade de Vida
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