METHODS: Genetic analysis was performed in 42 patients with MODY aged 1 month to 18 years among a cohort of 759 patients with diabetes, identified with the following four clinical criteria: age of diagnosis ≤18 years; negative pancreatic autoantibodies; family history of diabetes; or persistently detectable C-peptide; or diabetes associated with extrapancreatic features. GCK gene mutations were first screened by Sanger sequencing. GCK mutation-negative patients were further analyzed by WES.
RESULTS: Mutations were identified in 24 patients: 20 mutations in GCK, 1 in HNF4A, 1 in INS, 1 in ABCC8, and a 17q12 microdeletion. Four previously unpublished novel GCK mutations: c.1108G>C in exon 9, and c.1339C>T, c.1288_1290delCTG, and c.1340_1343delGGGGinsCTGGTCT in exon 10 were detected. WES identified a novel missense mutation c.311A>G in exon 3 in the INS gene, and copy number variation analysis detected a 1.4 Mb microdeletion in the long arm of the chromosome 17q12 region. Compared with mutation-negative subjects, the mutation-positive subjects had lower hemoglobin A1c and initial blood glucose levels.
CONCLUSIONS: Most MODY cases in this study were due to GCK mutations, which is in contrast to previous reports in Chinese patients. Diabetes associated with extrapancreatic features should be a clinical criterion for MODY genetic analysis. Mutational analysis by WES provided a precise diagnosis of MODY subtypes. Moreover, WES can be useful for detecting large deletions in coding regions in addition to point mutations.
METHODS: This was a follow-up study of participants recruited in the Malaysian HIV & Aging study (MHIVA) from 2014 to 2016 at the University Malaya Medical Centre (n = 336). PLWH on suppressive antiretroviral therapy (ART) for a minimum of 12 months were invited to participate. At study entry, all participants underwent screening for diabetes (DM), hypertension (HTN) and dyslipidaemia; and completed assessments using the depression, anxiety and stress scale (DASS-21). Screening results were recorded in medical charts and clinical management provided as per standard of care. A subsequent review of medical records was performed at 24 months following study completion among participants who remained on active follow-up. Treatment pathways for NCD treatment and psychiatric referrals were assessed based on local practice guidelines to construct the care cascade.
RESULTS: A total of 329 participants (median age = 43 years, 83% male, 100% on ART) completed follow-up at 24 months. The prevalence of diabetes was 13%, dyslipidaemia 88% and hypertension 44%, whereas 23% presented with severe/extremely severe symptoms of depression, anxiety and/or stress. More than 50% of participants with dyslipidaemia and hypertension were not diagnosed until study screening, whereas over 80% with prevalent psychiatric symptoms were not previously recognized clinically. Suboptimal control of fasting lipids, sugar and blood pressure were found in the majority of participants despite optimal HIV treatment outcomes maintained over this same period. Only 32% of participants with severe/extremely severe mental health symptoms received psychiatric referrals and 83% of these attended their psychiatry clinic appointments.
CONCLUSIONS: Systematic screening must be introduced to identify NCDs and mental health issues among PLWH followed by proper linkage and referrals for management of screen-positive cases. Assessment of factors associated with attrition at each step of the care cascade is critically needed to improve health outcomes in our aging patients.
AIM: To investigate the utility of a Traffic Light Control (TLC) system as a measurement/assessment of self-perceived eczema control.
METHODS: This is a prospectively study of all Chinese children (aged 6 to 18 years old) with eczema attending the paediatric dermatology clinic of a tertiary hospital from Jan to June 2020. Eczema control, eczema severity, quality of life and biophysical skin condition of consecutive patients at the paediatric dermatology clinic of a teaching hospital were evaluated with the validated Chinese versions of Depressive, Anxiety, Stress Scales (DASS-21), Patient Oriented Eczema Measure (POEM), transepidermal water loss (TEWL), and stratum corneum skin hydration (SH), respectively. With a visual TLC analogy, patients were asked if their eczema is under control (green light), worsening (yellow) or in flare-up (red light).
RESULTS: Among AE patients (n = 36), self-perceived TLC as green (under control), amber (worsening) and red (flare up) reflected acute and chronic severity (SCORAD, NESS, POEM) and quality of life (CDLQI) (p< 0.0001), but not SH, TEWL or Depression, anxiety and stress.
CONCLUSIONS: Eczema control can be semi-quantified with a child-friendly TLC self-assessment system. AE patients reporting worse eczema control have worse acute and chronic eczema severity, more impairment of quality of life; but not the psychologic symptoms of depression, anxiety and stress or skin hydration or transepidermal water loss. TLC can be linked to an eczema action plan to guide patient management.