Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management. Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed. All patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary, or stroke complications, or unknown causes. Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications

Effects of Time of Day and Sleep Deprivation on Motorcycle-Driving Performance

The aim of this study was to investigate whether motorcycle handling capabilities – measured by means of the efficiency of emergency manoeuvres – were dependent on prior sleep deprivation and time of day. Twelve male participants voluntarily took part in four test sessions, starting at 6 a.m., 10 a.m., 2 p.m., and 6 p.m., following a night either with or without sleep. Each test session comprised temperature and sleepiness measurements, before three different types of motorcycling tests were initiated: (1) stability in straight ahead riding at low speed (in “slow motion” mode and in “brakes and clutch” mode), (2) emergency braking and (3) crash avoidance tasks performed at 20 kph and 40 kph. The results indicate that motorcycle control at low speed depends on time of day, with an improvement in performance throughout the day. Emergency braking performance is affected at both speeds by time of day, with poorer performance (longer total stopping distance, reaction time and braking distance) in the morning, and also by sleep deprivation, from measurements obtained at 40 kph (incorrect initial speed). Except for a tendency observed after the sleepless night to deviate from the initial speed, it seems that crash avoidance capabilities are quite unaffected by the two disturbance factors. Consequently, some motorcycle handling capabilities (stability at low speed and emergency braking) change in the same way as the diurnal fluctuation observed in body temperature and sleepiness, whereas for others (crash avoidance) the participants were able to maintain their initial performance level despite the high levels of sleepiness recorded after a sleepless night. Motorcycle riders have to be aware that their handling capabilities are limited in the early morning and/or after sleep deprivation. Both these situations can increase the risk of falls and of being involved in a road accident

Cerebral parenchymal cyst: A rare complication of ventriculoperitoneal shunt malfunction in an adult.

We report a rare complication of ventriculoperitoneal (VP) shunt malfunction: an intraparenchymal pericatheter cerebrospinal fluid (CSF) cyst. To the best of our knowledge, this is the second reported case of VP-shunt-related parenchymal CSF cyst to be re

Long-Term Effectiveness of Direct CT-Guided Aspiration and Fenestration of Symptomatic Lumbar Facet Synovial Cysts.

Background and purposeLumbar facet synovial cysts are commonly seen in facet degenerative arthropathy and may be symptomatic when narrowing the spinal canal or compressing nerve roots. The purpose of this study was to analyze the safety, effectiveness, and long-term outcomes of direct CT-guided lumbar facet synovial cyst aspiration and fenestration for symptom relief and for obviating an operation.Materials and methodsWe retrospectively reviewed the medical records and imaging studies of 64 consecutive patients between 2006 and 2016 who underwent 85 CT-guided lumbar facet synovial cyst fenestration procedures in our department. We recorded patient demographics, lumbar facet synovial cyst imaging characteristics, presenting symptoms, change in symptoms after the procedure, and whether they underwent a subsequent operation. We also assessed long-term outcomes from the medical records and via follow-up telephone surveys with patients.ResultsDirect CT-guided lumbar facet synovial cyst puncture was technically successful in 98% of procedures. At first postprocedural follow-up, 86% of patients had a complete or partial symptomatic response. During a mean follow-up of 49 months, 56% of patients had partial or complete long-term relief without the need for an operation; 44% of patients underwent an operation. Patients with calcified, thick-rimmed, or low T2 signal intensity cysts were less likely to respond to the procedure and more likely to need an operation.ConclusionsCT-guided direct lumbar facet synovial cyst aspiration and fenestration procedures are safe, effective, and minimally invasive for symptomatic treatment of lumbar synovial facet cysts. This procedure obviates an operation in a substantial number of patients, even at long-term follow-up, and should be considered before surgical intervention