Venlafaxine, a serotonin and norepinephrine reuptake inhibitor, is increasingly used in pregnant women with pre-existing depression who require continued treatment. However, its in uteroeffects on the developing fetus are not clear. Herein, we report the unusual presentation of venlafaxine withdrawal in a female preterm baby of 29 weeks gestation, who presented with myoclonic seizures on her second day of life. The seizures were confirmed using amplitude-integrated electroencephalography, and other possible causes of neonatal seizures were excluded. The baby responded to treatment with phenobarbitone and phenytoin. Magnetic resonance imaging of her brain was unremarkable at corrected gestational age of 39 weeks and 2 days. On follow-up at the corrected age of five months, she was well and developing normally with no further seizures. To the best of our knowledge, this is the first report of seizures in a preterm baby resulting from maternal venlafaxine use.
Colpocephaly is a rare abnormality of the brain, described as persistence of primitive foetal configuration of lateral ventricles. It has been found in association with several abnormalities of the brain. Herein we report a case of colpocephaly with absent corpus callosum, confirmed antenatally with foetal MRI following diagnostic suspicion based on absent septum pellucidum at prenatal sonography.
anti-T. gondii IgG in oral fluid. It was then applied to 150 children aged 0-15 months (341 samples) born from 133 women who seroconverted during pregnancy and 17 who remained seronegative. IgG on oral fluid were compared to serum IgG detected with MEIA AxSYM ® Toxo IgG (Abbott Laboratories). Results The pilot study validated the acceptability and the safety of the test and the adequate duration of sampling. IgG detected in serum and in oral fluid had a parallel kinetics among newborns (correlation coefficient: 0.59, p < 0.0001), with a concordant decline in the non-infected ones (n = 110), and matching raising or stable IgG in those who were congenitally-infected (n = 23). Conclusions Collection of oral fluid is painless and inexpensive.Our new test provides a simple and rapid method to detect antiToxoplasma gondii IgG and to manage newborn at risk for congenital infection. It could have many other applications in pregnant women and other groups of patients. Glycogen storage diseases (GSD) are a group of inherited disorders of metabolism that result in storage of excess glycogen. Several well defined defects in one of the enzymes involved in the synthesis or degradation of glycogen have been described. There are over 15 types and they are classified based on the enzyme deficiency and the affected tissue (liver, muscle or both).
PO-0384 THE PRACTICAL METHOD TO DIAGNOSIS OF FOURTEEN CASES OF GLYCOGEN STORAGE DISEASES IN OUR LABORATORYIn this study, we wish to report the biochemical investigations adopted in main infantile GSD diagnosed in our laboratory.Four steps diagnostic procedure have been assumed, taking into account several frequent clinical observations leading to further targeted biochemical parameters:1. Assessment of the metabolic disorders with standard tests (fast blood glucose, uric acid, triglycerides, total cholesterol, ASAT, ALAT, CK, lactic acid).2. Quantitative determination of glycogen in leucocytes (or erythrocytes) after extraction, precipitation and treatment with an throne reagent.3. Oral galactose test with blood lactate and glucose estimations, in combination with a glucagon tolerance test to screen the main types of liver glycogenosis.4. Lysosomal acid a-glucosidase activity when GSD type II (Pompe disease) is suspected.Since 1995 and on the basis of this screening procedure and clinical features, 14 cases of GSD have been categorised: · 6 forbes's disease (GSD III, debranching-enzyme deficiency) · 3 von Gierke's disease (GSD I, glucose-6-phosphatase deficiency) · 2 pompe's disease (GSD II, maltase acid deficiency) · 1 Andersen's disease (GSD IV, branching-enzyme deficiency) · 1 Hers's disease (GSD VI, hepatic phosphorylase deficiency) · 1 GSD IX (phosphorylase kinase deficiency) Our laboratory diagnostic approach include simple screening tests easy to implement in clinical chemistry laboratories. Thus, Pompe disease diagnosis is easily done in our laboratory. The measurement of tissue enzyme activities (liver and muscle) of the other enzymes is limited to some specialised laboratories....
echocardiograms was low. The study has shown a wide disparity in antimicrobial choice and duration for SAB even within one hospital, and the need for central line infection prevention and management guidelines, better central line-associated infection surveillance outside critical care, and improved documentation of long antibiotic courses. It is hoped that further research could be done to optimise paediatric SAB management.
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