Oliver Dougherty (lionstick63)

To evaluate the utility of different outcome measures to monitor dose adjustment of intravenous immunoglobulin (IVIg) therapy in patients with chronic inflammatory neuropathy (CIN). We assessed the adjustment of IVIg maintenance therapy in 20 patients (10 CIDP and 10 MMN) by regularly monitoring grip strength (GS) using a Martin Vigorimeter, RODS, and quality of life using the SF-36 questionnaire. These measures were regularly performed by the patient at home. We also assessed the extended MRC sumscore (eMRC sumscore) at each outpatient visit for IVIg infusion. We also enrolled 30 healthy controls to measure any possible training effect of GS with time and to analyze random fluctuation of GS. Clinically relevant change was detected by eMRC sumscore in 14 (93%) patients, by RODS in 11 (73%) patients, and by GS in 8 (53%) patients. Early sensitivity was greatest for RODS (73%), followed by GS (53%), and eMRC sumscore (27%). This differed from CIDP, with an early change in RODS in 100% of patients, and MMN with an early change in GS in 75%. None of the outcome measures alone was sufficient to detect clinically significant changes in all patients. Home monitoring of outcome measures objectively assisted clinical decision during individualization of IVIg treatment. We recommend a multimodal approach using different outcome measures to monitor the individual patient with CIN.Background Emergency department (ED) patients with acute pulmonary embolism (PE) may undergo diagnostic pulmonary imaging as an outpatient before referral to the ED for definitive management. This population has not been well characterized. Methods This retrospective cohort study included ambulatory adults with acute objectively-confirmed PE across 21 EDs in an integrated health care system from 01/01/2013 through 04/30/2015. We excluded patients arriving by ambulance. We compared outpatients with diagnostic pulmonary imaging in the 12 hours prior to ED arrival (the clinic-based cohort) with those receiving imaging for PE only after ED arrival. We reported adjusted odds ratio (aOR) with 95% confidence intervals (CIs) for hospitalization, adjusted for race, presyncope or syncope, proximal clot location, and PE Severity Index class. learn more Results Among 2,352 eligible ED patients with acute PE, 344 (14.6%) had a clinic-based diagnosis. This cohort had lower PE Severity Index classification and were less likely to be hospitalized than their counterparts with an ED-based diagnosis 80.8% vs. 92.0%; p less then 0.0001). The inverse association with hospitalization persisted after adjusting for the above patient characteristics with aOR of 0.36 (95% CI 0.26-0.50). Conclusion In the study setting, ambulatory outpatients with acute PE are commonly diagnosed before ED arrival. A clinic-based diagnosis of PE identifies ED patients less likely to be hospitalized. Research is needed to identify which patients with a clinic-based PE diagnosis may not require transfer to the ED before home discharge.Hereditary sensory and autonomic neuropathies (HSAN) encompass a group of peripheral nervous system disorders characterized by remarkable heterogeneity from a clinical and genetic point of view. Mutations in SPTLC1 gene are responsible for HSAN type IA, which usually starts from the second to fourth decade with axonal neuropathy, sensory loss, painless distal ulcerations, and mild autonomic features, while motor involvement usually occur later as disease progresses. Beyond the classic presentation of HSAN type IA, an exceedingly rare distinct phenotype related to SPTLC1 mutations at residue serine 331 (S331) has recently been reported, characterized by earlier onset, prominent muscular atrophy, growth retardation, oculo-skeletal abnormalities, and possible respiratory complications. In this report, we describe clinical, instrumental, and genetic aspects of a 13-year-old Sri Lankan male carrying the rare de novo p.S331Y heterozygous mutation in SPTLC1 gene found by whole exo