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1.
J Inherit Metab Dis ; 2024 Aug 14.
Article in English | MEDLINE | ID: mdl-39143820

ABSTRACT

Long-term outcomes in classic galactosemia (CG) have been studied previously, but all prior studies have relied on cohorts of patients that were small in number, or heavily skewed toward children and young adults, or both. Here, we extend what is known about the health and well-being of maturing adults with CG by analyzing the results of anonymous custom surveys completed by 92 affected individuals, ages 30-78, and 38 unaffected sibling controls, ages 30-79. The median age for patients was 38.5 years and for controls was 41 years. These study participants hailed from 12 different countries predominantly representing Europe and North America. Participants reported on their general life experiences and outcomes in seven different domains including: speech/voice/language, cognition, motor function, cataracts, bone health, psychosocial well-being, and gastrointestinal health. We also queried women about ovarian function. Our results indicated a prevalence of long-term complications across all outcome domains that aligned with levels previously reported in younger cohorts. Given the sample size and age range of participants in this study, these findings strongly suggest that the adverse developmental outcomes commonly linked to CG are not progressive with age for most patients. We also tested four candidate modifiers for possible association with each of the outcomes followed, including: days of neonatal milk exposure, rigor of dietary galactose restriction in early childhood, current age, and home continent. We observed no associations that reached even nominal significance, except for the following: cataracts with neonatal milk exposure (p = 2.347e-04), cataracts with age (p = 0.018), and bone health with home continent (p = 0.03).

2.
Nurs Stand ; 38(3): 63-68, 2023 03 01.
Article in English | MEDLINE | ID: mdl-36710635

ABSTRACT

There is significant use of alternative diets by people living with cancer, with data suggesting this has continued to increase since the 1980s. Commonly used alternative diets include the ketogenic diet, Gerson therapy, alkaline diets and fasting diets. This article explains the latest trends in relation to alternative diets, discusses the reasons why people may want to use these and examines their hypothesised mechanisms of action. The author outlines and critically reviews the evidence underpinning the use of such diets in those living with cancer, and suggests that this remains weak. The article also explores the challenges that nurses may experience when a person living with cancer wishes to adopt an alternative diet, and provides practical advice and recommendations on nutrition.


Subject(s)
Diet, Ketogenic , Neoplasms , Humans , Diet , Nutritional Status
3.
Nurs Stand ; 35(3): 60-65, 2020 02 28.
Article in English | MEDLINE | ID: mdl-32103650

ABSTRACT

Enteral feeding is defined as the intake of food directly into the gastrointestinal (GI) tract. Enteral feeding tubes can also be used to administer medicines. Patients who may require enteral feeding include those who are unconscious, or those with neurological swallowing disorders, upper GI obstruction, GI dysfunction or malabsorption. There are several routes that can be used for enteral feeding including gastrostomy, post-pyloric, nasogastric, continuous pump and bolus feeding. When undertaking enteral feeding, nurses and other healthcare professionals should be aware of the potential complications such as tube blockage and infection. This article examines the various enteral feeding routes, discusses the administration of medicines, and details the common complications associated with enteral feeding.


Subject(s)
Enteral Nutrition , Gastrostomy , Intubation, Gastrointestinal/nursing , Enteral Nutrition/nursing , Gastrointestinal Diseases , Gastrostomy/nursing , Humans , Nutritional Status , Treatment Outcome
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