Whereas truncating variants of the giant protein Titin (TTNtv) are the main cause of familial dilated cardiomyopathy (DCM), recently Filamin C truncating variants (FLNCtv) were identified as a cause ...of arrhythmogenic cardiomyopathy (ACM). Our aim was to characterize and compare clinical and MRI features of TTNtv and FLNCtv in the Belgian population. In index patients referred for genetic testing of ACM/DCM, FLNCtv and TTNtv were found in 17 (3.6%) and 33 (12.3%) subjects, respectively. Further family cascade screening yielded 24 and 19 additional truncating variant carriers in FLNC and TTN, respectively. The main phenotype was ACM in FLNCtv carriers whereas TTNtv carriers showed either an ACM or DCM phenotype. Non-sustained Ventricular Tachycardia was frequent in both populations. MRI data, available in 28/40 FLNCtv and 32/52 TTNtv patients, showed lower Left Ventricular (LV) ejection fraction and lower LV strain in TTNtv patients (p < 0.01). Conversely, both the frequency (68% vs 22%) and extent of non-ischemic myocardial late gadolinium enhancement (LGE) was significantly higher in FLNCtv patients (p < 0.01). Hereby, ring-like LGE was found in 16/19 (84%) FLNCtv versus 1/7 (14%) of TTNtv patients (p < 0.01). In conclusion, a large number of FLNCtv and TTNtv patients present with an ACM phenotype but can be separated by cardiac MRI. Whereas FLNCtv patients often have extensive myocardial fibrosis, typically following a ring-like pattern, LV dysfunction without or limited replacement fibrosis is the common TTNtv phenotype.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
In 2016, the Food and Drug Administration issued a warning on general anesthetic medications used for lengthy procedures (>3 h) in children younger than 3 years. Spinal anesthesia can be a safe ...alternative to general anesthesia for many pediatric urology procedures. It can shorten total operating room (OR) time, provide excellent pain control, and allow parents to reunite with their child immediately after surgery. However, use of spinal anesthesia can also directly affect the operating surgeon (awake patient, time constraints of spinal, and prolonged preoperative time). Members of the Societies for Pediatric Urology (SPU) and European Society of Pediatric Urology (ESPU) were surveyed to get their opinions on the use of spinal anesthesia for routine pediatric urology procedures. It was hypothesized that half of pediatric urologists would favor spinal anesthesia and that SPU members would be more likely to favor spinal anesthesia than their European colleagues.
A short survey with five clinical scenarios was created. Scenarios assessed physicians' recommendations regarding timing and the type of anesthesia (general or spinal) for common pediatric urology procedures: undescended testicle, inguinal hernia, hypospadias, phimosis, and phimosis with penoscrotal webbing. Surveys were emailed to members of the SPU and ESPU. Responses and demographic information were collected and analyzed.
The survey was completed by 113 SPU members (46% response rate for members who opened the invitation) and 109 ESPU members. For all clinical scenarios, < 20% of pediatric urologists from the SPU and <25% from the ESPU favor doing any procedure with spinal anesthesia. The majority of respondents practice in children's hospitals with pediatric anesthesiologists, but roughly half of the responders (54% SPU and 43% ESPU) do not think their anesthesia colleagues would be comfortable performing spinal anesthesia. Furthermore, only 51% of SPU and 36% of ESPU members discuss the possible neurodevelopmental side-effects of anesthesia with parents; similarly, less than half of all respondents think their anesthesia colleagues address these potential side-effects when obtaining consent. The only significant difference between SPU and ESPU responses was that ESPU members tended to delay penile surgery more than SPU respondents.
Whether general anesthesia has any effect on the developing brain of children undergoing routine pediatric urology procedures is unclear. Yet, few pediatric urologists, independent of their region of practice, prefer spinal to general anesthesia. Collaboration in the OR is the key to success, and it is important that pediatric urologists and pediatric anesthesiologists work together to balance the benefits and risks of general and spinal anesthesia.Would you rather do this operation with spinal anesthesia only (no general anesthesia) in a healthy 5-month-old male?Clinical scenarioYesNoPalpable unilateral undescended testicle (UDT)SPU, 15%ESPU, 18%SPU, 85%ESPU, 82%Unilateral inguinal hernia with bowel in itSPU, 19%ESPU, 25%SPU, 81%ESPU, 75%Distal shaft hypospadiasSPU, 10%ESPU, 20%SPU, 90%ESPU, 80%Phimosis with penoscrotal webbingSPU, 19%ESPU, 23%SPU, 81%ESPU, 77%Phimosis, no webbingSPU, 19%ESPU, 24%SPU, 81%ESPU, 76%
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
These reporting guidelines are recommended by the Society for Cardiovascular Magnetic Resonance (SCMR) to provide a framework for healthcare delivery systems to disseminate cardiac and vascular ...imaging findings related to the performance of cardiovascular magnetic resonance (CMR) examinations.
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DOBA, GEOZS, IJS, IMTLJ, IZUM, KILJ, KISLJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, UILJ, UKNU, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
The Large Area Telescope (LAT) instrument on the Fermi mission will reveal the rich spectral and temporal gamma-ray burst (GRB) phenomena in the >100 MeV band. The synergy with Fermi's Gamma-ray ...Burst Monitor detectors will link these observations to those in the well explored 10-1000 keV range; the addition of the >100 MeV band observations will resolve theoretical uncertainties about burst emission in both the prompt and afterglow phases. Trigger algorithms will be applied to the LAT data both onboard the spacecraft and on the ground. The sensitivity of these triggers will differ because of the available computing resources onboard and on the ground. Here we present the LAT's burst detection methodologies and the instrument's GRB capabilities.
Solar fusion cross sections Adelberger, Eric G.; Austin, Sam M.; Bahcall, John N. ...
Reviews of modern physics,
10/1998, Volume:
70, Issue:
4
Journal Article
Peer reviewed
Open access
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CMK, CTK, FMFMET, IJS, NUK, PNG, UM
In 1960 Hodson and Edwards published their landmark paper about the association between chronic pyelonefritis and vesicoureteric reflux (VUR). Since then, the approach for VUR became more important ...(1). In the last 30 years there have been multiple publications on vesicoureteric reflux (VUR) and discussions at Pediatric Urology meetings with the purpose to give answers to the questions what the best treatment is for VUR, at what age the treatment is advocated, does it prevent for febrile urinary tract infections (UTI's) and does it stop of decreases the risk for reflux nefropathy and renal scars Well known are the International Reflux Study (1981) with a European and an American arm in which the researchers compared medical approaches with surgical approaches to reflux, and the Birmingham Reflux study (1987) which was a prospective trial of operative versus non-operative treatment of severe vesicoureteric reflux in children with five years observation (2). In 2009 the group from John Hopkins (Baltimore, USA) published their interim results from a randomized placebo-controlled study of children with VUR (the RIVUR Study) (3). The most recent randomized controlled trial (RCT) is the Swedish Reflux Trial published in the Journal of Urology 2010, July. This was set up as a RCT to compare 3 treatment alternatives, including antibiotic prophylaxis, endoscopic therapy and surveillance as the control group, in regard to recurrent febrile UTIs, renal damage and VUR status after 2 years (4). Since these new data are available, we want to give an update in this specific and interesting field in Pediatric Urology.
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