Impact of multidisciplinary care of diabetic foot infections for inpatients at Campbelltown Hospital.

BACKGROUND: Diabetic foot infection (DFI), including diabetic foot ulcer, is a serious complication of diabetes, particularly in the South Western Sydney (SWS) region where it is a leading cause of diabetes-related hospitalisations. Multidisciplinary team (MDT) involvement is effective at improving the health outcomes of DFI patients. This study investigated the impact of MDT (High Risk Foot Service, HRFS) on the length of stay and surgical outcomes of inpatients with DFI in a Sydney tertiary hospital. METHOD: A retrospective audit of electronic medical records of inpatient admissions for DFI at Campbelltown Hospital between January 2019 - December 2021, was performed. The main outcome of the study was MDT involvement, defined as having two or more specialities involved in the patient's treatment. The other measured variables included length of stay (defined as the total duration from admission to discharge), and surgical outcomes including debridement, minor amputation, and major amputation. RESULTS: Over the three years, 78 participants presented to the hospital for 89 unique DFI admissions. There were 24 admissions in 2019, 28 admissions in 2020, and 37 admissions in 2021, with MDT attendance showing a steady increase at 62.5%, 75.0% and 83.8% respectively. Patients with serious comorbidities such as chronic kidney disease were more likely to have MDT involvement (84.8% vs. 15.2%, P = 0.048). Imaging was more likely to be performed with MDT involvement (78.8% vs. 21.3%, p < 0.05). Comparing patients who received and did not receive MDT care, the mean HbA1c (%) (8.4 ± 2.0 vs. 8.2 ± 2.7, P = 0.701), median length of stay (LOS: 7.8, IQR 15.0 days vs. 4.8 IQR 7.9 days, P = 0.243) and rate of surgical outcomes (74.6% vs. 72.7%, P = 0.262) were similar. Patients who required major amputation had significantly longer LOS (24 days, IQR 21.5 vs. 5.2 days, IQR 13.0, P = 0.004) but similar HbA1c (P = 0.552) compared to those who had conservative intervention. CONCLUSION: Adopting an MDT approach was associated with more thorough investigation of DFI, with similar rates of surgical outcomes. Further research on the impacts of MDT on length of stay and surgical outcomes of DFI patients in other SWS hospitals is needed.

Two rare forms of congenital adrenal hyperplasia, 11ß hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by deficiency of various enzymes responsible for adrenal steroidogenesis. 11-Beta-hydroxylase deficiency (11ßOHD) and 17-hydroxylase/17,20-lyase deficiency (17OHD) are rare causes of CAH. METHODS/RESULTS: We hereby present a 65-year-old man with 11ßOHD and a 33-year-old woman with 17OHD. The man with 11ßOHD presented with peripheral precocious puberty and hypertension at age 15 years, fathered two children but developed complications of chronic glucocorticoid therapy on long-term follow-up. Interestingly, his younger sister had been diagnosed with the same condition at age 19 and had later given birth to four children while on glucocorticoids. Exome sequencing of the CYP11B1 gene detected the previously reported pathogenic mutation T318T (c.954G > A [p.Thr318Thr]) on one of the alleles and a novel mutation, R123G (c.367C > G [p.Arg123Gly]), on the other in a highly conserved region of the CYP11B1 gene. The woman with 17OHD presented with severe hypokalemia at age 22 years against a background of primary amenorrhea and lack of development of secondary sexual characteristics. She was heterozygous for a previously recognized mutation, R125Q (c.374G > A [p.Arg125Gln]), and a novel single base-pair deletion, G337fs (c.1010delG [p.Gly337Valfs*82]), which creates a frameshift with a new stop codon in the last exon of the gene, making it a likely pathogenic variant. CONCLUSION: Recognition of novel mutations is clinically significant and will contribute to the understanding of the phenotype-genotype relationship of these rare disorders in the future. It also highlights successful fertility outcomes in 11ßOHD which have not been well documented in the literature so far.

Clinical perspectives in congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.

Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11ß-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.