Introduction: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes typically affecting young adults. There are 14 different genes that lead to pancreatic cell dysfunction causing MODY. Occurrence of MODY12 by ATP binding cassette subfamily C member 8 (ABCC8) gene is rare, comprising 1% of all the MODY subtypes. Case: A 13-year-old male was incidentally found to be hyperglycemic during medical examination. He denied any hyperosmolar symptoms, polyphagia, nocturia and recurrent skin infection. He did not have any history of neonatal diabetes mellitus. His father had been diagnosed with type 1 diabetes mellitus at the age of 22 years old. On examination, he is thinly built with no goiter or acanthosis nigricans. HbA1c was 8.8%. His insulin antibodies were negative. Whole exome sequencing revealed a heterozygous missense mutation in ABCC8 gene (c.2209G>A; p.Val737Ile), where there was a single nucleotide mutation of Valine to Isoleucine at the position 737 of the ABCC8 gene. This variant was reported in the ClinVar database as having uncertain significance. Considering the patient’s clinical features, this mutation is responsible for the disease. He was initially treated with sulfonylurea, namely glibenclamide; however, his continuous glucose monitoring was not optimized and required change to insulin therapy. Conclusion This case explores the phenotypic spectrum of ABCC8- related MODY, showing that this mutation can present without neonatal diabetes and emphasizing the requirement of insulin as part of treatment. Genetic testing should be conducted in patients presenting with atypical clinical features of diabetes mellitus to initiate personalized treatment strategies.
Mason-Type Diabetes

A three-year-old female with a history of recurrent tonsillitis was investigated for failure to thrive and global developmental delay. Clinically, she had a triangular face with low-set ears and intermittent tachycardia. She had growth failure with her weight under the third centile while her height was within normal limits. Other systemic examinations were unremarkable. The presence of an elevated free T4 (FT4) with an inappropriately high thyroid stimulating hormone (TSH) in this patient raised the clinical suspicion of Thyroid Hormone Resistance Syndrome. DNA sequencing confirmed the diagnosis, which showed R243W gene mutation in Thyroid Hormone Receptor-Beta1 (THRB1).
Receptors, Thyroid Hormone ; Thyroid Hormone Resistance Syndrome ; Goiter

INTRODUCTION: There is an increasing reliance on informal caregivers to continue the care of patients after discharge. This is a huge responsibility for caregivers and some may feel unprepared for the role. Without adequate support and understanding regarding their needs, patient care may be impeded. This study aimed to identify the needs valued by caregivers and if there was agreement between acute care nurses and caregivers in the perception of whether caregiver needs were being met. METHODS: We conducted face-to-face interviews with 100 pairs of acute care nurses and caregivers. Participants were recruited from inpatient wards through convenience sampling. Questionnaires included demographic data of nurses and caregivers, patients' activities of daily living, and perception of caregiver needs being met in six domains of care. Independent t-test was used to compare mean values in each domain, and intraclass correlation coefficient was used to compare agreement in perception. RESULTS: Caregivers valued reassurance the most. Three domains of care needs showed significant differences in perception of caregiver needs being met:reassurance (p = 0.002), honesty and timeliness (p = 0.008), and kindness and genuine care (p = 0.026). There was poor agreement in all six domains of caregiver needs being met between nurses and caregivers. CONCLUSION Although caregivers valued reassurance the most, there was poor agreement between acute care nurses and caregivers in the perception of caregiver needs being met. Hence, more attention should be paid to the caregiver's needs. Further studies can examine reasons for unmet caregiver needs and interventions to improve support for them.