Cardiac Papillary Fibroelastoma: Single-Institution Experience with 14 Surgical Patients

In general, treatment for symptomatic and asymptomatic cardiac papillary fibroelastoma is surgical resection—particularly of left-sided lesions, because of the risk of systemic embolization. However, few institutions have enough experience with these tumors to validate this approach. We present our institutional experience with papillary fibroelastoma and discuss our current approach.We searched our institution''s cardiac tumor database, identified all patients diagnosed with cardiac papillary fibroelastoma from 1992 through 2014, and recorded the clinical and pathologic characteristics of each case. We found 14 patients (mean age, 60.5 ± 12.3 yr) who had 18 lesions. Eleven patients (79%) were symptomatic; however, we could not always definitively associate their symptoms with a cardiac tumor. Most lesions were solitary and ≤1.5 cm in diameter; half involved the left side of the heart. All 18 lesions were surgically excised. There were no operative or 30-day deaths, and no patient needed valve replacement postoperatively. There was one late death; at one year, another 3 patients were lost to follow-up, and the others were alive without tumor recurrence.Because of the embolic risk inherent to intracardiac masses and our relatively good postoperative outcomes, we recommend the surgical resection of all left-sided papillary fibroelastomas in surgical candidates, and we discuss with patients the advisability of resecting right-sided lesions.     

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is crucial for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low compound muscle action potentials and presynaptic impairment. We assessed the effect of the nonsense mutation on mRNA levels and evaluated the NMJ transmission in VAMP1^lew/lew mice, observing neurophysiological features of presynaptic impairment, similar to the patients. Taken together, our findings highlight VAMP1 homozygous mutations as a cause of presynaptic CMS. Ann Neurol 2017;81:597–603     

Short-term levosimendan treatment protects rat testes against oxidative stress

The objective of this study was to evaluate the effect of short-term levosimendan exposure on oxidant/antioxidant status and trace element levels in the testes of rats under physiological conditions. Twenty male Wistar albino rats were randomly divided into two groups of 10 animals each. Group 1 was not exposed to levosimendan and served as control. Levosimendan (12 µg/kg) diluted in 10 mL 0.9% NaCl was administered intraperitoneally to group 2. Animals of both groups were sacrificed after 3 days and their testes were harvested for the determination of changes in tissue oxidant/antioxidant status and trace element levels. Tissue malondialdehyde (MDA) was significantly lower in the levosimendan group (P < 0.001) than in the untreated control group and superoxide dismutase and glutathione peroxidase (GSH-Px) levels were significantly higher in the levosimendan group (P < 0.001). Carbonic anhydrase, catalase and GSH levels were not significantly different from controls. Mg and Zn levels of testes were significantly higher (P < 0.001) and Co, Pb, Cd, Mn, and Cu were significantly lower (P < 0.001) in group 2 compared to group 1. Fe levels were similar for the two groups (P = 0.94). These results suggest that 3-day exposure to levosimendan induced a significant decrease in tissue MDA level, which is a lipid peroxidation product and an indicator of oxidative stress, and a significant increase in the activity of an important number of the enzymes that protect against oxidative stress in rat testes.     

A Review of Next‐Generation Genetic Testing for the Dermatologist

Dermatologists have been placed in a prime position to make new genetic discoveries. Tissue is easily obtained from the skin or mucosa for the study of germline and somatic mosaic disorders. This, along with the recent development of next‐generation sequencing, makes dermatology an exciting field with essentially endless possibilities for discovering genes responsible for disease, better understanding complex molecular pathways, and eventually developing targeted therapies. To take advantage of this great opportunity, a basic understanding of the advances in genetic testing is vital. Herein we give an overview of next‐generation sequencing, including some of the applications it may be used for. We also review various study designs for genetic discovery, each of their benefits and downfalls, and how they may be applied to the study of dermatologic disease.     

BIS guided sedation with propofol during spinal anaesthesia: influence of anaesthetic level on sedation requirement

Background. In this prospective, clinical study we tested thehypothesis whether two different doses of spinal administeredbupivacaine and accordingly, two different levels of spinalanaesthesia can affect the dose requirement of propofol duringBIS guided sedation. Methods. Fifty women undergoing vaginal hysterectomy (high spinalgroup, HS) or transvaginal tape (TVT) procedure for urinaryincontinence (low spinal group, LS) under spinal anaesthesiawere enrolled to the study. In group HS, 17.5 mg and in groupLS, 7.5 mg of hyperbaric bupivacaine were given intrathecally.After 15 min to obtain the appropriate level of spinal anaesthesia,propofol infusion was started at a rate of 100 µg kg^–1min^–1 to reach a BIS level of less than 75 (onset time),and titrated to maintain the BIS value between 65 and 75. Propofolinfusion was stopped 45 min after placing the spinal to measurethe time to reach a BIS level of 90 (recovery time). Results. Median anaesthetic level was T3 (T1–4) in theHS group and T10 (T9-11) in the LS group. In both the HS andthe LS groups, onset time was 226 (47) vs 273 (48) s (P=0.001),recovery time was 234 (47) vs 202 (56) s (P=0.03), total doseof propofol was 2.17 (0.43) vs 3.14 (0.56) mg kg^–1 (P<0.001),respectively. Conclusion. A high spinal block obtained with hyperbaric bupivacaine17.5 mg was associated with a faster onset, delayed recoveryand lower doses of propofol sedation compared with a low spinalblock with 7.5 mg of the same drug.