An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoinsulinemia?

Background McArdle disease is a myopathy caused by mutations in PYGM gene that is characterized by reduced or absent activity of myophosphorylase. Reports of patients with concomitant McArdle disease and diabetes are scarce. We report a case of a patient with a late diagnosis of McArdle disease and we postulate that symptoms may be related to hypoinsulinemia. Case presentation This report describes the evolution of an elderly diabetic patient with confirmed diagnosis of McArdle’s disease based on the absence of myophosphorylase activity in the analysis of muscle biopsy, and a homozygous mutation in the PYGM gene. The variant – Chr11: 64.525 (p. Asn168*fs) has not been previously described. The diagnosis of McArdle disease was confirmed after two episodes of rhabdomyolysis, at 77 and 81 years of age, as the symptoms were, until then, discrete. The “second-wind phenomenon” was not spontaneously reported, but it was confirmed when directly questioned. We postulate that the later episodes of rhabdomyolysis occurred because of a progressive decrease in insulin production with a consequent reduction in the uptake of blood glucose by muscle cells, thus compromising the cellular energy balance. To our knowledge, this is the first report of recurrent rhabdomyolysis in an elderly diabetic patient with genetically proven McArdle disease. Our initial attempt to reduce insulin resistance with metformin and pioglitazone was not effective, possibly because of inadequate insulinemia. However, an improvement was evident after the administration of low doses of intermediate-acting insulin. Conclusions In view of the patient’s clinical evolution, we suggest the use of medication that reduces insulin resistance for patients with McArdle disease and type 2 diabetes, pre-diabetes or even normoglycemic metabolic syndrome.

Successful Treatment of Insulin Allergy with Desensitization Therapy: A Case Report and Literature Review

Insulin therapy is an essential treatment for type 1 and uncontrolled type 2 diabetes mellitus (DM). Hypersensitivity reactions have been described since the first administration of insulin, the same as any other therapy. Despite being a rare situation nowadays, it requires careful intra-hospital monitoring and multidisciplinary management. Here, we present a case of a 57-year-old patient with type 2 DM, an average glycemic control, and both penicillin and insulin allergy. Heunderwent a desensitization protocol which allowed successfully dismiss him with intermediate-acting insulin.

Milk production in Saanen goats treated with repeated low doses of intermediate-release insulin during early lactation

ABSTRACT: The effect of insulin administration on the productive responses of Saanen goats during early lactation was investigated. Ten of 20 adult females were subjected to subcutaneous administration of intermediate-acting insulin (0.14UI/kg body weight) at 2, 9, and 14 days postpartum. Milk yield was measured twice daily for 13 weeks and milk samples were collected to measure protein and fat contents. Plasma levels of progesterone, insulin, non-esterifies fatty acids, glucose and other metabolites were measured. Results showed a significantly increased effect of insulin treatment on the content of milk fat and protein; moreover, milk production in the first and second postpartum weeks were higher than control group. The peak of lactation in the insulin group was achieved one week earlier in comparison to the control group. In addition, the milk production rate showed lower persistency (milk yield 13 week/milk yield at peak) in the same group. During the first four weeks of postpartum, treated animals showed greater weight loss and higher non-esterified fatty acid concentration, whereas no effect was observed on the concentration of progesterone and other metabolites. The above results indicated that repeated administration of insulin in dairy goats during early lactation increase yield and qualitative components of milk, but has substantial consequences on animal productive rate and metabolic response.

Health-related quality of life in a cohort of youths with type 1 diabetes

SUMMARY Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9–16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.