We describe the clinical and genetic findings in pedigree with a novel mutation in the calcium sensing receptor (CaSR) gene and the unusual coexistence of primary hyperparathyroidism (HPT) and familial hypocalciuric hypercalcaemia (FHH) and its clinical management. The occurrence of both FHH and primary HPT in the same patient has been described rarely. Our pedigree has a novel mutation in the CaSR gene. Parathyroidectomy led to a reduction, but not normalization of the calcium levels in the patient identified as having HPT. The coexistence of HPT and FHH was considered in this patient as her calcium and PTH levels were rising with time. Surgical resection of her parathyroid adenoma resulted in reduction of her calcium levels to above normal and significant reduction in her symptoms of fatigue and low mood.
Renal angiomyolipomas (AMLs) are benign tumours that may occur sporadically in the general population or in patients with tuberous sclerosis complex. The concern with AMLs is that of retroperitoneal hemorrhage, which can be fatal. Classically the trigger for prophylactic intervention was thought to be an AML diameter of ≥4 cm. However, this value is largely based on data from case series and heterogeneous retrospective studies. The PICO (patient, intervention, comparison, outcome) paradigm was used to systematically search the Cochrane database, TRIP database, and PubMed. The quality of evidence in the literature is poor regarding the indications for prophylactic embolization of AMLs (level 4). There are no prospective studies that adequately assess embolization vs other treatment modalities. However, using the available evidence we have produced recommendations for when intervention should be considered. We have also made recommendations regarding the direction of future research.
Cervical adipose volume and visceral adipose area increased by 105% and 60% in the two patients and hepatic fat fraction decreased by 55% during a 21-month period of medical therapy. These changes coincided with a decrease in biochemical indexes of insulin resistance. Whole body quantitative MRI may therefore help to demonstrate the subclinical changes in fat deposition that occur as a result of novel treatment of familial partial lipodystrophy and with continued research may play a role in guiding the choice, duration, and intensity of novel medical therapy.
Introduction
Cardiac Implantable Electronic Devices (CIEDs) are increasing in prevalence. Exposing patients with CIEDs to MRI can lead to adverse outcomes. This has led certain radiology departments to not accept MRI referrals related to patients with CIEDs. Patients with MR-conditional CIEDs can be safely scanned under specific conditions. Our institution has accepted such referrals since 2014. The aim of this study was to systematically identify and reduce risk in our CIED-MRI protocol using Failure Mode and Effects Analysis (FMEA).
Methods
A multidisciplinary FMEA team was assembled and included senior stakeholders from the CIED-MRI protocol. A process map was constructed followed by risk analysis and scoring. Targeted interventions were formulated and implemented, high-risk failure modes were prioritized. A new process map and protocol were drafted and repeat risk analysis performed. Monitoring and re-evaluation of the CIED-MRI pathway were instigated at departmental QA meetings.
Results
Interventions included direct CIED characterisation using wireless technology pre-MRI, CIED programming and reprogramming in the MRI suite before and immediately after MRI reducing device downtime and continuous patient monitoring during MRI by a cardiac physiologist. The cumulative risk priority number decreased from 1190 pre FMEA to 492 post FMEA.
Discussion
Despite the risk of exposing CIEDs to the MR environment, patients with MR-conditional CIEDs can be safely scanned with appropriate multidisciplinary support. We found FMEA an indispensable tool in identifying and minimizing risk with no adverse events recorded since FMEA recommendations were implemented.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.