Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency. We describe here the effect of riboflavin supplementation therapy in a previously reported adult patient with multiple acyl-CoA dehydrogenation deficiency having compound heterozygous gene variations in FLAD1 (MIM: 610595) encoding FAD synthase. We present thorough clinical history including laboratory investigations, muscle MRI, muscle biopsy and spiroergometric analyses comprising of a follow-up of 20 years. Our data suggest that patients with adult-onset multiple acyl-CoA dehydrogenation deficiency with FLAD1 gene mutations also benefit from long-term riboflavin therapy.

Objectives Details of intestinal failure in the Finnish adult population are unknown. This study aimed to specify the intestinal failure prevalence and to clinically characterize the patient population in Finland. Methods All Finnish healthcare units with the potential of providing parenteral support received an electronic survey to report whether they had patient(s) aged ≥18 years on long-term (≥120 days) parenteral support due to intestinal failure. Patient details came from patient records. IBM SPSS v.25 was used to analyze descriptive statistics. Results Of the 74 patients, 52 were included after confirming parenteral support indication from the records. The adult intestinal failure prevalence for 2017 was 11.7 per million, 95% confidence interval: 8.9–15.3. Most patients were women (69%), and the median age was 62 (45–72) years. Short bowel syndrome was the most frequent intestinal failure mechanism (73%), and surgical complication the most frequent underlying diagnosis (29%). Of patients, 66% represented the clinical classification category parenteral nutrition 1 or parenteral nutrition 2. Median Charlson Comorbidity Index was one (0–2.8); hypertension (37%) and diabetes (23%) were the most frequent comorbidities. Patients received seven (3.5–7) parenteral support infusions weekly, and eight patients (15%) were on fluids and electrolytes only. The median duration of parenteral support was 27.5 (11.3–57.3) months. Ten patients ceased parenteral support during 2017 after a median of 20.0 (9.0–40.3) parenteral support months. Eight weaned off parenteral support, one ran out of catheter sites, and one died. Conclusion Prevalence and patient characteristics of adult intestinal failure in Finland are similar to those in other Western countries.

Adding a Dietitian to a Danish Liaison-Team after discharge of geriatric patients at nutritional risk may save health care costs. Aging Sci 4: 159.

Background and objective: Acute mesenteric ischemia (AMI) has a high mortality rate due to the development of bowel necrosis. Patients are often ruled outside active care if a large proportion of small bowel is necrotic. With the development of treatment for short bowel syndrome (SBS) and intestinal transplantation methods, long-term survival is possible even after extensive small bowel resections. This study aims to assess the incidence of SBS and potentially suitable candidates for intestinal transplantation among patients treated for AMI. Methods: This population-based retrospective study comprised patients aged less than 70 years and diagnosed with AMI between January 2006 and October 2020 in Helsinki and Uusimaa health care district, Finland. Results: Altogether, AMI was diagnosed in 711 patients, of whom 133 (19%) were aged below 70. An intervention was performed in 110 (83%) patients. Of these 133 patients, 16 (12%) were ruled outside active treatment due to extensive small bowel necrosis at exploratory laparotomy, of whom 6 (5%) were potentially suitable for intestinal transplantation. Two patients were considered as potential candidates for intestinal transplantation at bowel resection but died of AMI. Nine (7%) patients needed parenteral nutrition after resection, and two of them (2%) developed SBS. Only one patient needed long-term parenteral nutrition after hospital discharge. This patient remained dependent on parenteral nutrition but died before evaluation of intestinal transplantation could be carried out while the other patient was able to return to enteral nutrition. Conclusions: A small number of patients with AMI below 70 years of age are potentially eligible for intestinal transplantation.