Body composition of adults with chronic intestinal failure receiving home parenteral nutrition: A descriptive cohort study.

BACKGROUND: Chronic intestinal failure (CIF) refers to the long-lasting reduction of gut function below the minimum necessary to absorb macronutrients, water, and/or electrolytes. Patients with CIF likely develop various forms of malnutrition and dehydration, yet studies that focus primarily on body composition are lacking. Therefore, this study aimed to evaluate the body composition of adult patients with CIF. METHODS: This retrospective descriptive cohort study was performed at the Radboud University Medical Center, a tertiary referral center for CIF treatment in the form of home parenteral nutrition. We collected available bioelectrical impedance analysis (BIA) data from routine care between 2019 and 2023. The primary outcome was body composition, which was evaluated by assessing body mass index (BMI), fat-free mass index (FFMI), and fat percentage (fat%). RESULTS: Overall, 147 adult patients with CIF were included with a median (interquartile range) age of 58 (25-68) years; 69% were female. The mean (SD) BMI was 22.1 (4.3) kg/m2, FFMI was 14.2 (1.9) kg/m2 in females and 17.0 (2.0) kg/m2 in males, and fat% was 33.7% (6.8%) in females and 24.6% (6.4%) in males. 63% had an FFMI below references, and 48% had a high fat%. CONCLUSION: This study found that most adult patients with CIF have an unfavorable body composition characterized by a high fat% and low FFMI despite having a normal mean BMI. These results highlight the necessity for in-depth nutrition assessment, including BIA measurement. Moreover, future studies should focus on exercise interventions to increase FFMI and improve body composition and function.

Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study.

Fragility fractures are frequently reported in neuromuscular diseases and negatively influence functional prognosis, quality of life and survival. In LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related congenital myopathy (SELENON-RM) cross-sectional and prospective natural history studies on bone quality and fragility long bone fractures (LBFs) are lacking. We therefore aim to systematically assess bone quality and provide recommendations for clinical care. We performed a one-year prospective natural history study in 21 LAMA2-MD and 10 SELENON-RM patients including a standardized fracture history and bone quality assessment through dual energy Xray absorptiometry scan (DEXA-scan) and/or bone health index (BHI). Ninety percent of the LAMA2-MD and SELENON-RM patients showed low bone quality. Eight (38%) LAMA2-MD and five (50%) SELENON-RM patients had a history of fragility LBFs. During the one-year follow-up period, one LAMA2-MD patient (female, 3 years) experienced a fragility LBF of the right humerus. We found no difference in bone mineral density between baseline and one-year follow-up. Based on general international guidelines for osteoporosis, we advise adequate vitamin D and calcium intake, and standardized clinical follow-up through a DEXA-scan or BHI in all LAMA2-MD and SELENON-RM patients. On indication, patients should be referred to the pediatrics or internal medicine for consideration of additional treatments.

Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.

BACKGROUND: Eating an adequate diet and maintaining a healthy body weight can be challenging for patients with muscular disorders (MD). Starting tube feeding can have a positive impact on nutritional status, functioning and quality of life. Guidelines on when to start tube feeding in adults with MD are lacking. OBJECTIVE: We aim to review the scientific literature on indications to start tube feeding in adults with facioscapulohumeral dystrophy (FSHD), inclusion body myositis (IBM), muscular dystrophy type 1 (DM1), oculopharyngeal muscular dystrophy (OPMD) and congenital myopathies. METHODS: This scoping review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR) guidelines. Relevant studies were identified in Pubmed, Embase and Cinahl (April 2022). The medical subject headings (MeSH) and text words used were related to FSHD, IBM, DM1, OPMD or congenital myopathies and dysphagia, enteral nutrition or malnutrition. RESULTS: Of 1046 unique articles, 9 case reports and 2 retrospective case series were included. Indications to start tube feeding were dysphagia, malnutrition/weight loss and respiratory infections (due to aspiration). Percutaneous endoscopic gastrostomy (PEG) tubes were used most often and complications were respiratory failure, problems with the tube itself, accidental tube removal, cutaneous symptoms, digestive symptoms, and peritonitis. CONCLUSION: Data on tube feeding in MD is scarce. Indications to start tube feeding were similar across the various MD. We call for more research in this field and suggest to include screening for dysphagia, aspiration and malnutrition in for the treatment of various MD.

Mitochondrial energy production correlates with the age-related BMI.

Besides characteristic neurologic and musculoskeletal symptoms, children with mitochondrial dysfunction often present with feeding problems and failure to thrive. Substrate depletion for the respiratory chain has an effect on energy expenditure. Secondary mitochondrial dysfunction has been reported in severe chronic malnutrition. We evaluated the nutritional state, the growth parameters, and the metabolic condition in 172 children undergoing muscle biopsy for a suspected disorder of the oxidative phosphorylation system (OXPHOS). We performed dietary evaluation and initiated nutritional intervention when needed before the biopsy. Mitochondrial dysfunction was confirmed by detection of enzyme-complex deficiencies and/or by mutations in 83 children, in 14 patients no biochemical abnormalities were found. In the whole study group, and in the subgroup with enzyme-complex deficiency and/or mutation, a significant correlation was found between the mitochondrial production of adenosine triphosphate (ATP) and the age-related body mass index (BMI). Nutritional state and growth should be considered by interpreting the results of ATP-production in fresh muscle biopsy. Because of a positive correlation between the age-appropriate BMI and the ATP-production, we strongly advise optimizing the nutritional state preceding the muscle biopsy in children with a suspected OXPHOS-disorder. Dietary intervention remains although challenging because of frequent gastrointestinal problems and eating disorders.