Browse Items (17 total)

Recessive dystrophic epidermolysis bullosa (RDEB) is associated with high nutritional demands, esophageal strictures and dysphagia. About one quarter of the patients require gastrostomy tube placement to maintain adequate nutritional status. To…

The Sanfilippo Behavior Rating Scale (SBRS), a 68 item questionnaire, has been developed to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression overtime. Fifteen scales rate orality, movement/activity,…

Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature,…

Esophageal stricture is one of the most common gastrointestinal complication in epidermolysis bullosa patients. We describe the technique of esophageal stricture dilatation, with a focus on safety and procedural modifications. Case series of 6…

AimThis cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. MethodTwenty participants (11 males, 9 females; range 9-21y) with ataxia…

The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during swallowing. We also investigated the psychosocial impact of dysphagia on individuals with…

Aim of the study: To assess the efficacy and safety of endoscopic balloon dilatation of esophageal strictures in children. Material and methods: Design: retrospective case series; population: 49 patients under 18 years of age referred to our center…

The article discusses some of the features of comparativeness effectiveness trials in relation to patient care. Some of the successes as well as failures of various attempts to integrate randomized comparative effectiveness research with patient care…

Objective: While attention bias modification (ABM) is a promising novel treatment for anxiety disorders, clinical trial data remain restricted to adults. The authors examined whether ABM induces greater reductions in pediatric anxiety symptoms and…

Abstract
INTRODUCTION:
All-cause infant and childhood mortality has decreased in the UK over the last 30 years. Advances in paediatric critical care have increased survival in paediatric intensive care units (PICUs) but may have affected how and when…

We conducted a survey-based study of the opinions, attitudes, and management practices of neonatologists across the United States regarding prenatally diagnosed Trisomy 18. The survey was designed based on previously validated surveys of severe fetal…

Abstract
A child with Dravet syndrome shakes family life to the core. Dravet syndrome usually has three phases: (1) up to 1-1½ years: with episodes of febrile status epilepticus but normal development; (2) age 1½ to ~6-10 years: with frequent…

Abstract
Objective To describe the opinions of paediatricians who teach resuscitation in Brazil regarding resuscitation practices in the delivery room (DR) of preterm infants with gestational ages of 23–26 weeks.

Methods Cross-sectional study with…

BACKGROUND:
Despite reported challenges encountered by nurses who provide palliative care to children, few researchers have examined this phenomenon from the perspective of nurses who care for children with life-threatening illnesses in pediatric…

OBJECTIVE:
Many extremely preterm neonates die in the delivery room (DR) after decisions to withhold or withdraw life-sustaining treatments or after failed resuscitation. Specific palliative care is then recommended but sparse data exist about the…
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