Barakat syndrome diagnosed decades after initial presentation.

Summary: Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). A 64-year-old woman was referred to our endocrinology clinic for a switch in treatment (from dihydrotachysterol to calcitriol). She had progressive sensorineural deafness since the age of 18 and idiopathic hypoparathyroidism diagnosed at age of 36. Her medical history included osteoporosis with hip/spine fractures, nephrolithiasis and a family history of hearing loss, osteoporosis and kidney disease. The patient's clinical presentation indicated Barakat syndrome. Genetic analysis found a GATA3:c.916C>T nonsense variant. Further tests such as audiometry, labs and renal imaging supported the diagnosis. Due to rarity and manifold symptoms, diagnosis can be challenging. Optional GATA3 testing was suggested in 2018, except in cases of isolated sensorineural deafness or renal disease with pertinent family history. In isolated 'H' cases without 'D' and 'R', GATA3 studies are not required, as no haploinsufficiency cases were reported. Given the rise in genetic disorders, physicians should consistently consider rare genetic disorders in patients with suggestive symptoms, even decades after onset. Although diagnosis might not always impact management directly, it aids patients in accepting their condition and has broader family implications. Learning points: There is currently an important increase in genetic and clinical characterization of new orphan diseases and their causative agents. Unbiased re-evaluation for possible genetic disorders is necessary at every consultation. It is essential to recognize the differential diagnosis of idiopathic hypoparathyroidism. The patient's clinical presentation and family history can be important to establish the correct diagnosis. Physicians should not hesitate to search a patient's signs and symptoms online.

Prediction of In-Hospital Falls Using NRS, PACD Score and FallRS: A Retrospective Cohort Study.

BACKGROUND: Harmful in-hospital falls with subsequent injuries often cause longer stays and subsequently higher costs. Early identification of fall risk may help in establishing preventive strategies. OBJECTIVE: To assess the predictive ability of different clinical scores including the Post-acute care discharge (PACD) score and nutritional risk screening score (NRS), and to develop a new fall risk score (FallRS). METHODS: A retrospective cohort study of medical in-patients of a Swiss tertiary care hospital from January 2016 to March 2022. We tested the ability of the PACD score, NRS and FallRS to predict a fall by using the area under curve (AUC). Adult patients with a length of stay of ≥ 2 days were eligible. RESULTS: We included 19,270 admissions (43% females; median age, 71) of which 528 admissions (2.74%) had at least one fall during the hospital stay. The AUC varied between 0.61 (95% confidence interval (CI), 0.55-0.66) for the NRS and 0.69 (95% CI, 0.64-0.75) for the PACD score. The combined FallRS score had a slightly better AUC of 0.70 (95% CI, 0.65-0.75) but was more laborious to compute than the two other scores. At a cutoff of 13 points, the FallRS had a specificity of 77% and a sensitivity of 49% in predicting falls. CONCLUSIONS: We found that the scores focusing on different aspects of clinical care predicted the risk of falls with fair accuracy. A reliable score with which to predict falls could help in establishing preventive strategies for reducing in-hospital falls. Whether or not the scores presented have better predictive ability than more specific fall scores do will need to be validated in a prospective study.

Prevalence, Risk Factors and Outcomes Associated with Physical Restraint in Acute Medical Inpatients over 4 Years-A Retrospective Cohort Study.

BACKGROUND: Physical restraints are frequently used in acute care hospitals. Their application is associated with negative outcomes, while their intended preventive effect is debated. OBJECTIVES: To determine the prevalence of physical restraints and associated outcomes on medical wards in a tertiary care hospital. METHODS: Retrospective cohort study (January 2018 to December 2021). We included all adult medical in-patients and excluded patients with admission to the intensive care unit, short stays (length of stay (LOS) < 48 h), and patients declining informed consent. RESULTS: Of 11,979 admissions, the prevalence of patients with at least one restraint was 6.4% (n = 772). Sensor mats were used most frequently (73.0%, n = 666), followed by blanket restrictions (14.5%, n = 132), bedrails (8.8%, n = 80) and belts (3.7%, n = 34). On average, restraints were applied 19 h (standard deviation (SD) ± 161) before a fall. Average restraint duration was 42 h (SD ± 57). Patients with a restraint had longer LOS 8 days (IQR 5-14) vs. 5 days (IQR 3-9). Median nurses' time expenditure was 309 h (IQR 242-402) vs. 182 h (IQR 136-243) for non-restrained patients. Patients with restraints fell more often (22.5% vs. 2.7%) and were more likely to die (13.3% vs. 5.1%). These differences persisted after adjusting a regression model for important clinical confounders. We saw a decline in the duration of restraints over the years, but no variation between wards. CONCLUSION: Approximately 6% of medical patients, mostly older and severely ill, were affected by restraint use. For the first time, we report data over 4 years up to ward-level granularity.