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1.
Front Pediatr ; 11: 1160147, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37138575

RESUMO

Background: cardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications. Case presentation: the patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth. Conclusion: this paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.

2.
Pediatr Cardiol ; 36(3): 633-9, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25410823

RESUMO

Although exercise stress echocardiography (ESE) is a well-validated technique in adult population, its use in children is quite limited. We aimed to assess the feasibility, the safety and the reproducibility of ESE, using on-line scanning in semi-supine cyclo-ergometer protocol in a large pediatric population. Between July 2008 and January 2013, 42 patients (mean age 14 ± 3) were evaluated with a bicycle ESE performing 50 studies. ESE was successfully performed and well tolerated by all patients. None of the patients presented with adverse effects of stress-induced ischemia. HR was 82 ± 13 at rest, and 153 ± 19.1 during peak exercise. Among 544 views analyzed for grading of image quality, the visualization was optimal in 473 (87 %), suboptimal in 39, and inadequate in 32 (6 %). 37 tests were performed in patients with congenital or acquired coronary abnormality. Regional wall motion abnormalities (RWMA) were revealed in nine cases (24 %). The agreement between the two different observers showed a K index of 0.7276 (95 % CI 0.6497-0.8055) for the image quality and a K index of 0.5125 (95 % CI 0.4782-0.5468) for the RWMA analysis. Among ten patients with hypertrophic cardiomyopathy, we were able to demonstrate the new comparison of significant left ventricular outflow tract gradient (≥30 mmHg) during exercise in three patients (30 %). Bicycle stress echocardiography performed by on-line scanning during exercise is a feasible, safe, and reproducible modality in children. Further data to assess its diagnostic accuracy are, however, needed. Stress echocardiography provides a dynamic assessment of the myocardial structure and function under conditions of physiologic or pharmacologic stress.


Assuntos
Ecocardiografia sob Estresse/métodos , Teste de Esforço/métodos , Coração/anatomia & histologia , Coração/fisiologia , Coração/fisiopatologia , Adolescente , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/fisiopatologia , Criança , Vasos Coronários/diagnóstico por imagem , Feminino , Humanos , Masculino , Medição de Risco , Decúbito Dorsal , Função Ventricular Esquerda/fisiologia
3.
Int J Immunopathol Pharmacol ; 24(4 Suppl): 17-20, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22032781

RESUMO

Allergic rhinitis and asthma are closely associated. Bronchial hyperreactivity (BHR) is a pathophysiological characteristic of asthma. Allergic inflammation is characterized by eosinophilic infiltrate and may by indirectly assessed by exhaled nitric oxide (FeNO). Forced expiratory flow between 25 percent and 75 percent of vital capacity (FEF25-75) may predict BHR in adult patients with allergic rhinitis. The aim of this study was to evaluate the presence of BHR in a large group of adolescents with allergic rhinitis and whether FEF25-75 might be related with BHR and FeNO. Methods 150 adolescents with allergic rhinitis were enrolled. Clinical examination, skin prick test, spirometry, methacholine challenge, and FeNO were performed in all patients. Results Severe BHR is quite frequent in allergic adolescents. Impaired FEF25-75 values (such as less than 65 percent of predicted) constitute a relevant predictive factor for severe BHR (OR 4.4). FeNO levels were significantly related with BHR. Conclusion This study provides evidence that impaired FEF25-75 values might predict severe BHR and BHR is related with FeNO in adolescents. Therefore, BHR should be suspected in adolescents with low FEF25-75 values.


Assuntos
Hiper-Reatividade Brônquica/diagnóstico , Hiper-Reatividade Brônquica/etiologia , Bronquite/diagnóstico , Bronquite/etiologia , Fluxo Expiratório Forçado/fisiologia , Rinite Alérgica Perene/complicações , Rinite Alérgica Sazonal/complicações , Adolescente , Testes Respiratórios , Broncoconstritores , Estudos de Coortes , Estudos Transversais , Relação Dose-Resposta a Droga , Feminino , Volume Expiratório Forçado , Humanos , Masculino , Cloreto de Metacolina , Óxido Nítrico/metabolismo , Valor Preditivo dos Testes , Rinite Alérgica Perene/fisiopatologia , Rinite Alérgica Sazonal/fisiopatologia , Espirometria , Capacidade Vital
4.
Int J Immunopathol Pharmacol ; 24(4 Suppl): 49-54, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22032787

RESUMO

Adenoid hypertrophy is the most common cause of nasal obstruction in paediatric patients. Over the years, various methods to assess the adenoid size were proposed such as the posterior rhinoscopy and the radiological examination of the nasopharynx. Nasal endoscopy was introduced for children in the 80's, and nowadays this is a known and diffuse method in routine practice. The purpose of this article is to describe the personal experience in the assessment of the adenoid size in children, with a particular regard to the flexible nasal endoscopy, and to analyse the literature reports. The personal technique is described in performing nasal endoscopy in paediatric patients, reporting advantages and possible disadvantages of the procedure. A retrospective analysis was conducted on 6036 children since 1999 to 2010. In most cases children fully collaborated to complete the exam. No major or minor complications (such as nose bleedings or other traumatic injuries) were observed. No topical intranasal decongestant, local or general anaesthesia were used in our series. In our opinion, nasal endoscopy in children is a reliable, safe, accurate, easily tolerated and dynamic diagnostic method to assess the adenoid size.


Assuntos
Tonsila Faríngea/patologia , Endoscopia/métodos , Cavidade Nasal/patologia , Adenoidectomia , Adolescente , Envelhecimento/fisiologia , Obstrução das Vias Respiratórias/diagnóstico , Obstrução das Vias Respiratórias/patologia , Criança , Pré-Escolar , Orelha/patologia , Endoscópios , Feminino , Tecnologia de Fibra Óptica , Humanos , Hipertrofia , Lactente , Masculino , Orofaringe/patologia , Estudos Prospectivos
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