Thromboelastometry-guided anticoagulation reversal in a patient with ventricular assist device with intracranial hemorrhage.

Intracranial hemorrhage (ICH) is a known complication in patients with ventricular assist devices (VAD). We present a case of a 42-year-old male with a VAD and on warfarin who presented to the emergency department with ICH necessitating anticoagulant reversal. An attenuated dose of 15 units/kg of 4-factor prothrombin complex-concentrates (4F-PCC) was given and the patient's coagulation profile was subsequently assessed using rotational thromboelastometry (ROTEM®) to determine appropriateness of reversal. ROTEM® analysis showed adequate reversal at the time of assessment and the patient ultimately returned home without further functional deficits, highlighting the role of ROTEM® to guide anticoagulation reversal in the VAD patient population.

Neurotoxicity secondary to local tetracaine use.

INTRODUCTION: Systemic reactions from local tetracaine use are often an anomaly - not only is tetracaine short-acting and quickly metabolized by the pseudocholinesterase system leading to very limited systemic uptake, but most adverse reactions are usually associated with dental or spinal anesthesia. Furthermore, reactions to local anesthetics manifest in standard allergy-type reactions. When local anesthetics lead to nervous or cardiac system abnormalities, it is termed a local anesthetic systemic toxicity - an event with an incidence currently estimated to be 0.03%. CASE PRESENTATION: We present a case of a 56-year-old female who experienced a systemic reaction to tetracaine 1% while undergoing a fine needle biopsy of a thyroid nodule. The patient had previous allergic reactions to lidocaine. Upon conclusion of the procedure, the patient began convulsing and became rigid and non-verbal. She was able to move all extremities, had no respiratory distress, no swelling, hives, or redness, and was swallowing without difficulty. After about 5 min, the patient began to improve and experienced reversal of all previous symptoms. Her physical exam and labs were otherwise normal, she returned to her baseline functioning, and was discharged without any medical interventions. DISCUSSION: This case illustrates a case of LAST in a patient with previous Lidocaine allergy without any other obvious risk factors. There have been no cases of cross-reaction between lidocaine and tetracaine so it explores the possibility of patients having cross reaction to those two different kinds of local anesthetic.

Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1.

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a multisystemic disease caused by expansion of a CTG repeat in the 3' UTR of the Dystrophia Myotonica-Protein Kinase (DMPK) gene. While multiple organs are affected, more than half of mortality is due to muscle wasting. METHODS: It is unclear whether endurance exercise provides beneficial effects in DM1. Here, we show that a 10-week treadmill endurance exercise program leads to beneficial effects in the HSALR mouse model of DM1. RESULTS: Animals that performed treadmill training displayed reduced CUGexp RNA levels, improved splicing abnormalities, an increase in skeletal muscle weight and improved endurance capacity. DISCUSSION: These results indicate that endurance exercise does not have adverse effects in HSALR animals and contributes to beneficial molecular and physiological outcomes.

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

OBJECTIVE: We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis. METHODS: We studied biochemistry in muscle and fibroblasts, performed mutation analysis, assessed physiological responses to forearm and cycle-ergometer exercise combined with stable-isotope techniques and indirect calorimetry, and evaluated the effect of IV glucose infusion and oral sucrose ingestion on the exercise response. RESULTS: Phosphoglucomutase type 1 (PGM1) activity in muscle and fibroblasts was severely deficient and PGM1 in muscle was undetectable by Western blot. The patient was compound heterozygous for missense (R422W) and nonsense (Q530X) mutations in PGM1. Forearm exercise elicited no increase in lactate, but an exaggerated increase in ammonia, and provoked a forearm contracture. Comparable to patients with McArdle disease, the patient developed a 'second wind' with a spontaneous fall in exercise heart rate and perceived exertion. Like in McArdle disease, this was attributable to an increase in muscle oxidative capacity. Carbohydrate oxidation was blocked during exercise, and the patient had exaggerated oxidation of fat to fuel exercise. Exercise heart rate and perceived exertion were lower after IV glucose and oral sucrose. Muscle glycogen level was low normal. CONCLUSIONS: The second wind phenomenon has been considered to be pathognomonic for McArdle disease, but we demonstrate that it can also be present in PGM1 deficiency. We show that severe loss of PGM1 activity causes blocked muscle glycogenolysis that mimics McArdle disease, but may also limit glycogen synthesis, which broadens the phenotypic spectrum of this disorder.

Treatment and management of neuromuscular channelopathies.

OPINION STATEMENT: Neuromuscular channelopathies are heterogeneous disorders with marked phenotypic and genotypic variability. These include non-dystrophic myotonia (NDM), periodic paralysis (PP), and congenital myasthenic syndrome (CMS). Their diverse clinical manifestations remain a challenge in diagnosis and management to this date. These disorders impact quality of life and cause lifelong disabling symptoms. Treatment options are few and not FDA-approved. This is largely due to a paucity of large, randomized clinical trials in these rare diseases. Challenges of conducting such trials include the rarity of these disorders and the genetic heterogeneity. Physicians rely on off-label use of drugs to treat muscle channelopathies to reduce morbidity and improve quality of life. Besides pharmacological treatment, dietary modifications, lifestyle changes, awareness of triggers, and genetic counseling also play an important role in long-term disease management. This article reviews the current management strategies for neuromuscular channelopathies.

Metabolic and mitochondrial myopathies.

Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature muscle fatigue, sometimes leading to myalgia, rhabdomyolysis, and myoglobinuria, typically occur with exercise that would normally depend on the defective metabolic pathway. But in another group of these disorders, the dominant muscle symptom is weakness. This article reviews the clinical features, diagnosis, and management of these diseases with emphasis on the recent literature.

Paraneoplastic neuromuscular disorders.

INTRODUCTION: Paraneoplastic neurological disorders are rare autoimmune conditions that can affect any part of the nervous system, including the peripheral nervous system. These disorders are associated with certain types of cancer, and the peripheral nervous system dysfunction often precedes the symptoms from the cancer itself. METHODS: This investigation was undertaken as a topic review. CONCLUSIONS: Learning to recognize paraneoplastic neuromuscular disorders, the associated antibodies and their implications, and the appropriate screening modalities can, in some cases, lead to an earlier diagnosis of cancer. Eliminating the cancer, if present, and immunomodulation can potentially improve the symptoms and clinical outcome.

Exercise-associated numbness and tingling in the legs.

A 52-year-old physically active man with a medical history of coronary artery disease, hypertension, and hyperlipidemia presented with numbness and tingling in the legs. His symptoms were intermittent initially, triggered by running or playing soccer and relieved by rest. Symptoms progressed during 1 year. The numbness became more constant, and he developed leg pain radiating from the popliteal fossa to the heel bilaterally (pain was more severe in the left leg compared with the right leg). Recently, he had noted some constipation as well as difficulty in initiating urination.

Depression among emergency medicine residents over an academic year.

OBJECTIVES: To describe the frequency of depression among emergency medicine (EM) residents by month, gender, rotation type, postgraduate year (PGY), and number of hours worked. METHODS: This was a prospective, nonblinded, cohort study of consenting EM residents in a four-year, 51-resident EM residency program from July 2003 to June 2004. Participants received an anonymous monthly survey via Web site that consisted of the Center for Epidemiologic Studies Depression Scale (CESD) and the resident's gender, PGY, number of hours worked in the previous week (< or =40, 41-60, 61-80 and >80), and rotation type (EM, intensive care unit, non-EM clinical, or other). Residents were excluded from analysis if they did not complete at least one survey during each season. For each resident, the peak score for each three-month period was recorded and analyzed with a mixed-model analysis of variance to account for a repeated-measures effect. RESULTS: Fifty of 51 (98.0%) residents consented for participation. Nineteen (38%) were excluded because of incomplete data. The prevalence of depression was 12.1% (95% confidence interval [95% CI] = 7.5% to 19.0%; 15 of 124 scores). The women had numerically, but not statistically, significantly lower mean +/- standard deviation CESD scores than the men (6.4 +/- 6.8 vs. 8.7 +/- 8.6, p = 1.0). There was no significant difference in mean CESD score by month, PGY, rotation type, or number of hours worked. CONCLUSIONS: Season, number of hours worked, rotation type, PGY, and gender all failed to predict depression among EM residents in this single-center trial. The prevalence of depression was comparable to that of the general population.