Stay at home orders due to the COVID-19 pandemic have exacerbated risk factors for type 2 diabetes. These orders have limited opportunities for daily physical activity, encouraged more screen time and sedentary behaviors, led to disturbed sleep, and promoted consumption of ultra-processed foods. Even modest weight gain over a short period of time can increase the risk for long-term consequences such as type 2 diabetes and cardiovascular disease. During the COVID-19 pandemic, there has been little data on the incidence or severity of new-onset type 2 diabetes in the pediatric population. We conducted a retrospective chart review of admissions for new onset type 2 diabetes from March to December 2019 and for the same period in 2020 at a tertiary care children’s hospital. Eligible patients were identified using ICD-10 codes for type 2 diabetes (E11.*); hyperglycemia (E72.51, E11.65, R73.9, R73.09); and hyperosmolar hyperglycemic syndrome (E13.*, E11.01). Each admission was carefully reviewed, and those with type 1 diabetes or hyperglycemia unrelated to diabetes were excluded. In 2019 the hospitalization rate for new onset type 2 diabetes was 0.27% (8 cases out of 2964 hospitalizations) compared to 0.62% (17 out of 2729) in 2020, p<0.048. In total 23 of 25 children were African American and 19 children were male. Three children in 2019 versus 8 children in 2020 met criteria for DKA while 2 children met criteria for HHS in 2020. The mean admission HbA1c was 12.4% in 2019 vs. 13.1% in 2020; while the mean admission glucose was 441 mg/dL in 2019 vs. 669 mg/dL in 2020. Furthermore, the admission serum osmolality was 314 mmol/kg in 2019 compared to 335 mmol/kg in 2020. Our study found that the incidence of hospitalization for new onset type 2 diabetes was higher in 2020 during the COVID-19 pandemic compared to the same period in 2019. While the labs presented were not statistically different due to the limited number of participants, further studies are warranted to better understand the clinical implications of these findings. Disclosure D. S. Hsia: None. M. Lim: None. R. A. Beyl: None. H. A. Hasan: None. J. Gardner: None. Funding National Institute of General Medical Sciences (U54GM104940)
Introduction: Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience. Materials and Methods: Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett-Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography. Results: Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13. Conclusion: Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.
Introduction: This paper shows the importance and value of external proficiency testing programmes in monitoring and improving a laboratory’s diagnostic skills. It reviews and documents the wide variety of inherited metabolic disorders (IMDs) encountered in the programmes organised by the Human Genetics Society of Australasia and the College of American Pathologists. Materials and Methods: The programmes used actual patient specimens to assess a laboratory’s ability to provide diagnoses based on laboratory tests results and brief clinical information. Participating laboratory was also required to suggest additional test(s) to confirm diagnoses. Results: The results of diagnoses on 116 samples were reviewed. Altogether 49 IMDs were encountered, including 26 organic acidurias, 16 aminoacidurias, 3 urea cycle defects, 5 mucopolysaccharidoses, and 1 each of mucolipidosis and purine disorder. Our report for 21 of the 116 samples (18.1%) deviated from the actual diagnoses. Deviations from the final diagnoses were recorded along with the reasons for them. The main reasons for the deviations were: the lack of standards for recognising metabolites of pathognomonic significance, absence of characteristic metabolites in samples collected during treatment, the presence of misleading unusual metabolites, inadequate clinical information, and inability to perform additional tests due to insufficient specimens. Conclusions: The programmes provided a wide variety of IMDs, some of which we have yet to encounter in our patients. They also enabled us to learn about the varied biochemical manifestations at different stages of disease and the identity of previously unidentified metabolites. They enhanced our knowledge and experience and improved our diagnostic skills. Key words: External proficiency testing, Inherited metabolic disorders, Laboratory diagnosis, Quality assessment
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