Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain. Molecular testing in patient 1 revealed a missense variant of a highly conserved residue c.782 C>G (p.P261R). This variant has been reported once with fatal outcome. Patient 2 also had a missense variant in a highly conserved neighboring residue c.770 C>T (p.S257L). This variant has been previously reported, most recently associated with the development of pulmonary arterial hypertension. Both our patients had prenatal findings of polyhydramnios, short long bones, hydrops fetalis, and cardiac anomalies with progressive biventricular hypertrophic cardiomyopathy. Both patients had a lethal outcome. Our findings further support the pathogenicity and lethality of p.P261R, and the need to monitor for pulmonary arterial hypertension in p.S257L. In addition, the second patient was presented with progressive hydrocephalus due to aqueductal stenosis. This could be related to the NS phenotype. More cases with this association are needed to confirm this finding.
One hundred premedicated inpatients undergoing wisdom tooth extraction were divided into two groups of 50. Group A was anesthetized by a technique based on droperidol and phenoperidine, whilst group B was anaesthetized with halothane. The e.c.g. in both groups demonstrated a similar overall incidence of cardiac arrhythmia, but analysis revealed a significantly higher incidence of ventricular arrhythmia in group B. The heart rate was significantly less in group A.
Medical Research Societydisease, but is associated with an incidence of myocardial necrosis greater than the incidence of new Q waves in the surface e.c.g.Angioplasty is an alternative to bypass grafting for some patients.W e have used changes in plasma enzymes to estimate the degree of myocardial necrosis in successful cases.Sixteen patients with angina pectoris (10 men; 6 women; mean age 48.1 years) had measurements of plasma aspartate transaminase and creatine kinase, total and M B isoenzyme, before and a f t e r percutaneous transluminal coronary angioplasty for severe stenosis of the proximal left anterior descending (14 patients) and right (2 patients) coronary arteries. These results were compared with those in 11 patients (8 men; 3 women; mean age 49.1 years) before and after coronary angiography and in 4 male patients (mean age 59.7 years) after acute transmural anteroseptal myocardial infarction.Angioplasty did not cause an increase in any of these three enzyme activities in 10 patients with single vessel coronary artery disease. However, in 6 patients with multiple vessel coronary a r t e r y disease, some of whom had previously experienced a documented acute myocardial infarction, angioplasty caused an increase in all three enzyme activities (for the M B isoenzyme of creatine kinase p < 0.05; paired 't' test). The increase, even in the M B isoenzyme activity, was modest, and only 4% of that seen in t h e patients with frank myocardial infarction. I n f i r m a r y , LEEDS Intravenous ( i . v . ) i n i t i a t i o n of beta-adrenoc e p t o r blockade immediately following AM1 has been advocated. Oral t r e a t m e n t is more conveni e n t b u t t h e o r e t i c a l l y l e s s p r e d i c t a b l e i n terms of its magnitude and d u r a t i o n of e f f e c t . No s t u d y has p r o s p e c t i v e l y examined t h e haemodynamic e f f e c t s of i . v . or o r a l t r e a t m e n t . Accordi n g l y t h e haemodynamic dose response e f f e c t o f i . v . (25mg, 5Omg: Groups 1 & 2) and o r a l (200 mg: 400mg: Groups 3 & 4) a c e b u t o l o l were compa r e d i n a s i n g l e b l i n d randomised between group s t u d y of 24 males (36-63 y r s ) t 20 hours a f t e r AM1 without hypotension (SBP~llOmmHg), bradyc a r d i a (t60 beat/min), or pulmonary congestion (L.V. f i l l i n g p r e s s u r e t2OmmHg). Systemic and pulmonary p r e s s u r e s were e x t e r n a l l y transduced, c a r d i a c o u t p u t (C.O.) was by t h e r m a l d i l u t i o n and l e f t h e a r t f i l l i n g p r e s s u r e was from t h e pulmonary a r t e r y occluded p r e s s u r e (PA0P)trace. Control measurements (1 hour) preceded acebut-0101. Haemodynamic v a r i a b l e s and plasma drug c o n c e n t r a t i o n s were r e p e a t e d i n i t i a l l y a t 1 5 min. i n Groups 1 & 2 and subsequently 30, 6 0 , 120 and 240 min. i n a l l p a t i e n t s . Dose response e f f e c t s were n o t apparent and t h e r e was no q u a n t i t a t i v e c o r r e l a t i o n between plasma drug c o n c e n t r a t i o n ...
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.