Citations

Febrile infection‐related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra is a recombinant version of the human interleukin‐1 receptor antagonist used to treat autoinflammatory disorders. This is the first report of anakinra for treatment of a child with super‐refractory status epilepticus secondary to FIRES. Anakinra was well tolerated and effective. Cerebral spinal fluid analysis revealed elevated levels of proinflammatory cytokines before treatment that normalized on anakinra, suggesting a potential pathogenic role for neuroinflammation in FIRES. Further studies are required to assess anakinra efficacy and dosing, and to further delineate disease etiology. Ann Neurol 2016;80:939–945

AbstractBackgroundNew advances in spinal cord stimulation have led to improved treatment of patients suffering from chronic pain. While the overall safety of newer stimulation devices has been established, no published reports exist regarding safety considerations when these devices are implanted in patients with a preexisting cardiac device.Case ReportAn 83‐year‐old man with a history of out‐of‐hospital cardiac arrest secondary to an episode of ventricular fibrillation underwent automated implantable cardiac defibrillator placement. Concomitantly, he suffered from intractable chronic low axial back pain and was deemed a candidate for high‐frequency (10 kHz) spinal cord stimulation (SCS). Cardiac monitoring during SCS trial and implantation was performed with no interference noted. Following high‐frequency SCS implantation, the patient was observed to have significant pain relief with functional improvement.DiscussionWhile others have reported safety during traditional SCS in patients with implanted cardiac devices, this is the first case report to describe safe and effective use of high‐frequency SCS in a patient with an implanted cardiac device.

Background and Aims: Gastroparesis (GP) patients suffer from recurrent symptoms of nausea, vomiting, early satiety, and abdominal pain. The impact of GP on quality of life (QoL), health care utilization and daily activities is not well understood. Materials and Methods: Part 1: 398 adult patients (≥18 y) with documented GP (symptoms >6 mo) were surveyed to assess QoL and pain using the Short Form 36 and McGill pain questionnaires. Part 2: 491 adult GP patients were surveyed to evaluate employment status, work and daily activities, medication use, physician visits, diagnostic testing, emergency room visits, and hospitalizations related to their GP symptoms. Both protocols received Institutional Review Board approval. Results: Part 1: 250 fully evaluable surveys were returned (63%). The mean age was 46.8 years (range, 18 to 84 y); 78% were women. Mean Short Form 36 scores for mental health (56.9) and social functioning (68.1) were analogous to scores for patients with serious chronic medical disorders and depression. Pain scores were lower in patients with idiopathic GP compared with diabetic GP. Part 2: 228 evaluable surveys were analyzed (58.3% response rate). The mean age was 49.6 (19 to 86 y); 77.2% were women. GP symptoms reduced daily activities in 67.5% and lowered annual income in 28.5%. In total, 11% were disabled due to GP symptoms. Conclusions: GP reduces patients’ QoL and places a significant financial burden on the health care system. Treatment strategies for GP patients should be broad based and incorporate pain management, psychological evaluation and management, and strategies to improve overall well-being with a return to work and daily activities.

Thiopurine‐related hematotoxicity in pediatric acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases has been linked to genetically defined variability in thiopurine S‐methyltransferase (TPMT) activity. While gene testing of TPMT is being clinically implemented, it is unclear if additional genetic variation influences TPMT activity with consequences for thiopurine‐related toxicity. To examine this possibility, we performed a genome‐wide association study (GWAS) of red blood cell TPMT activity in 844 Estonian individuals and 245 pediatric ALL cases. Additionally, we correlated genome‐wide genotypes to human hepatic TPMT activity in 123 samples. Only genetic variants mapping to chromosome 6, including the TPMT gene region, were significantly associated with TPMT activity ( P < 5.0 × 10 ‐8 ) in each of the three GWAS and a joint meta‐analysis of 1,212 cases (top hit P = 1.2 × 10 ‐72 ). This finding is consistent with TPMT genotype being the primary determinant of TPMT activity, reinforcing the rationale for genetic testing of TPMT alleles in routine clinical practice to individualize mercaptopurine dosage.

SummaryBackgroundIn patients with multiple endocrine neoplasia type 1 (MEN‐1), pancreaticoduodenal (PD) neuroendocrine tumours (NETs) are associated with early mortality, yet the best treatment strategy remains uncertain.AimTo assess patient important outcomes (mortality and metastasis) of PD‐NETs and predictors of outcomes in patients with MEN‐1.MethodsRetrospective cohort of patients with MEN‐1 who attended the Mayo Clinic, Rochester, MN from 1997 to 2014.ResultsWe identified 287 patients with MEN‐1; 199 (69%) patients had 217 PD‐NETs. Among those with a PD‐NETs, 129 (65%) had surgery of which 90 (70%) had their primary surgery performed at Mayo Clinic. The median postoperative follow‐up was 8 years during which 13 (14%) patients died. The mean (±standard deviation) age of death was 51 (±9) years. Tumour size, metastasis at surgery or tumour type were not predictive of mortality, but for every year older at surgery, the odds of metastasis increased by 6%. Surgery was not performed in 70 (35%) patients. Among those who were observed/medically managed without known metastatic disease, mean tumour growth was 0·02 cm/year (range, −0·13–0·4 cm/year). Four patients (7%) died at a median age of 77 (range, 51–89) years.ConclusionPD‐NETs are common in patients with MEN‐1 and are associated with early mortality even after surgical intervention. Active surveillance is a viable option in nonaggressive PD‐NETs, although definitive factors identifying such patients are lacking. Therefore, counselling regarding risks and benefits of current treatment options remains integral to the care of patients with MEN‐1.

AbstractShared decision making (SDM) has been advocated as an approach to selecting medical tests and treatments for many situations. The goal of SDM is to ensure that patients are well informed, are meaningfully involved in decisions, and receive treatments that meet their goals and preferences. There is considerable evidence about the tools used to promote SDM, called patient decision aids, and many different measures have been developed to assess the impact of SDM. However, fairly little is known about the applicability of the tools and measures in the emergency department (ED) setting. This article builds on insights from two keynote lectures presented at the 2016 Academic Emergency Medicine Consensus Conference discussing the state of the science for measurement of SDM and the design of patient decision aids to promote SDM conversations and highlights some key areas for further research to advance SDM in the ED.

ObjectivesTo report patterns and patient characteristics associated with initiation of and persistence with medical therapies for uterine fibroid‐related heavy menstrual bleeding.DesignRetrospective cohort study.SettingUS commercial insurance claims database.Population41 561 women aged 18–54 years with uterine fibroids and heavy menstrual bleeding who initiated medical therapies from January 2000 through December 2013.MethodMultinomial logistic regression was used to assess patient characteristics associated with initiation and persistence. Cox proportional hazards regression was used on propensity score‐matched cohorts to examine change from index medication.Main outcomes measuresInitiation of and persistence with four first‐line medical therapies: short‐ and long‐acting reversible contraceptive steroids, leuprolide acetate, and tranexamic acid.ResultsMost women (79.4%) took short‐acting reversible contraceptive steroids as first‐line therapy (index medication), whereas 9.5%, 8.5%, and 2.7% used long‐acting reversible contraceptive steroids, leuprolide acetate, and tranexamic acid, respectively. During follow‐up, 16 594 women (39.9%) switched to nonindex medication (18.4%) or procedural treatment (81.6%). In comparison with women taking short‐acting steroids, those receiving long‐acting steroids were less likely to switch [hazard ratio (HR) 0.84, 95% CI 0.79–0.91], whereas women taking leuprolide acetate (HR 2.44, 95% CI 2.27–2.62) or tranexamic acid (HR 1.44, 95% CI 1.26–1.65) were more likely to switch. Older age, emergency department visits, anaemia, and inflammatory disease diagnoses at baseline were associated with increased probability of discontinuing the index medication or switching to another therapy.ConclusionsWomen with uterine fibroid‐related heavy menstrual bleeding were more likely to persist with their initial therapy of long‐acting reversible contraceptive steroid compared with other medical options.Tweetable Abstract80% women with fibroid‐related heavy menstrual bleeding use SARC, but LARC users are more persistent.