Liver cirrhosis in glycogen storage disease Ib

Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis. Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia. We report for the first time on the development of liver cirrhosis in a nine-year-old boy in the course of glycogen storage disease Ib and discuss possible underlying pathomechanisms.     

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC

Objective  

The implementation of NTBC into treatment of hypertyrosinemia type I (HT I) greatly improved survival by prevention of acute liver failure and hepatocellular carcinoma. However, there are first reports of cognitive impairment in patients with elevated plasma tyrosine concentrations.     

Mean Platelet Volume in Patients With Dilated Cardiomyopathy: Does it have a Role in Left Ventricular Thrombus Formation?

We assessed the clinical echocardiograhic, hematological, and biochemical parameters in patients with dilated cardiomyopathy (DCMP) and control individuals mainly focusing on the mean platelet volume (MPV) in terms of DCMP and left ventricle (LV) thrombus formation. Consecutive patients (n = 251) with DCMP and 266 patients without DCMP were studied. Mean platelet volume was significantly greater in patients with DCMP than in control patients (P < .05 for all comparisons). Comparing DCMP patients with LV thrombus (19 patients, 8%) and without LV thrombus (232 patients, 92%) showed that the prevalence of smokers was significantly higher and ejection fraction was significantly lower in patients with LV thrombus. We have shown that patients with DCMP have significantly higher MPV suggesting more platelet activation and the MPV of patients with DCMP and LV thrombus is comparable to those of patients without LV thrombus.     

Acute Renal Failure and Mortality After Open-Heart Surgery in Infants

Acute renal failure (ARF) is a major complication in infants who undergo cardiac surgery. The aim of this investigation was to identify possible risk factors for ARF and mortality in this patients group. Out of 64 patients, 21 (32.8%) cases developed acute renal failure and overall mortality rate was 25%. The mortality rate was higher in the infants who developed ARF than those who did not (66.7% and 4.7%, respectively, p < 0.05). Also, ARF was positively correlated with mortality (r:0.70, p < 0.0001). The nonsurvivors had lower mean serum albumin than did the survivors (p < 0.05), and serum albumin level was negatively correlated with mortality (r = ? 0.34, p < 0.05). For the patients with serum albumin level < 3.5 g/dL, the unadjusted odds ratio for mortality was 4.3 (CI 95%:1.05 ? 17.86). Total bypass time and aorta clamping time were significantly longer in the nonsurvivor group than in the survivor group (p < 0.05 for both). In conclusion, the significant risk factors for mortality in these patients were development of ARF, low serum albumin level, and long total bypass and aorta clamping times, which may be predictive of poor prognosis.     

Characteristic differences between vestibular migraine and migraine only patients

Journal of Neurology - Vestibular migraine (VM) is one of the most common causes of vertigo in clinical practice but it is not always easy to make the correct diagnosis. Our aims were to find out...