Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oro-pharyngeal dysphagia commonly occurs in patients with infantile onset Pompe disease (IOPD), which is a rare recessive neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. Without treatment, death occurs by 1 year of age from cardiorespiratory failure. Enzyme replacement therapy (ERT) has been used to increase life expectancy, however emerging developmental and medical morbidities have become apparent. A case file review of the feeding outcomes of 12 patients with IOPD, managed at a single tertiary centre, was undertaken. Two types of assessment had been completed: clinical feeding assessment (CFA) and instrumental videofluoroscopy swallow study (VFSS). A rating of functional oral intake at every Speech and Language Therapy feeding assessment from initial diagnosis to the most recent assessment was applied using the functional oral intake scale (FOIS).Results indicate, initial diagnosis VFSS predicts long-term feeding outcomes. Even if a patient had an improvement in oral feeding after diagnosis, over a period of time their oral intake returned to the initial diagnosis VFSS level or below. All patients (8/8) who required non-oral feeding support under 6 months of age went on to require non-oral feeding support, even if they had periods of full oral feeding. CRIM negative status predicted significant oral feeding difficulties. An evidence-based follow-up protocol was developed. The information is used at diagnosis to counsel families regarding feeding prognosis and consideration of early gastrostomy when cardiac status allows safe anaesthesia. The results reinforce that feeding changes over time and patients require on-going dysphagia monitoring.
 ...
PMID:Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease. 2734 50

Amyotrophic lateral sclerosis (ALS) is associated with nutritional deficits. Gastrostomy tubes are often inserted in patients with ALS to supplement or replace oral intake. The aim of this study was to better understand the practices of gastrostomy tube insertion in patients with ALS. Pre-collected de-identified data were obtained from the Canadian Neuromuscular Disease Registry (CNDR). Feeding tube status was compared with markers of dysphagia, respiratory compromise, and weight status in both univariate and multivariate analysis by employing odds ratios. Results showed that abnormal ALSFRS-R dysphagia scores were associated with higher rates of feeding tube referrals. The use of non-invasive ventilation also increased the likelihood that a tube was recommended. A higher FVC was found to decrease the likelihood of recommendation. BMI and ALSFRS-R dyspnoea scores were not found to be independently associated. In conclusion, our findings demonstrate that symptoms of dysphagia and respiratory status are associated with higher rates of recommendation for feeding tubes. While not independently significant, individuals with a lower BMI had more feeding tube referrals compared to individuals with a normal or elevated BMI. A similar trend was noted for ALSFRS-R dyspnoea scores. Further research is required to determine if these represent optimal criteria for placement.
 ...
PMID:Correlating factors in the recommendation of feeding tubes in the nutritional management of amyotrophic lateral sclerosis. 2753 58

Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures. The aim of this review is to provide a comprehensive analysis of the nutritional aspects and complications that can start in children with Duchenne muscular dystrophy (DMD) and increase with ageing. These aspects should be considered in the transition from paediatric clinics to adult services. It is shown that appropriate nutritional care can help to improve the quality of life of DMD patients, and a multidisciplinary team is needed to support nutrition challenges in DMD patients. However, studies on the prevalence of overnutrition and undernutrition, gastrointestinal complications, infectious diseases, dysphagia, and reduced bone mass in the different types of NMDs are needed, and appropriate percentiles of weight, height, body mass index, and body composition appear to be extremely important to improve the management of patients with NMD.
 ...
PMID:Nutritional Challenges in Duchenne Muscular Dystrophy. 2860 99


<< Previous 1 2 3