Piimahammaste lõikumine enneaegsetel lastel ning selle seos erinevate neonataalsete teguritega

Enneaegne sünd ning piima- ja jäävhammaste lõikumine ning tervis on omavahel tihedalt seotud. Mida enneaegsem on laps ning tõsisemad enneaegsuse tüsistused, seda hilisem on piima hammaste lõikumine. Uuritud 72-l alla 2500-grammise sünnikaaluga enneaegsel lapsel hilines piimahammaste lõikumine ning 1-aastaselt oli vähem hambaid suus kui ajalistel lastel. Märkimisväärne mahajäämus esines lastel, kelle sünnikaal oli alla 1500 g. Enneaegse korrigeeritud vanust arvestades olulist vahet hammaste lõikumises ja arvus ei olnud. Hammaste lõikumist mõjutab enam neonataalses eas rakendatud orotrahheaalse intubatsiooni kestus. Eesti Arst 2007; 86 (5): 316–32

Dopamiinitundlik düstoonia: kirjanduse ülevaade ja haigusjuhu kirjeldus

Dopamiinitundlik düstoonia ehk Segawa sündroom on haigus, mille haigusnähtude varieeruvus võib mõnikord viia valediagnoosini nagu nt laste tserebraalparalüüs. Paljudel patsientidel esinevad sümptomid päevaste fluktuatsioonidega. Haigus allub ravile dopamiini väikeste annustega. Artiklis on kirjeldatud 11-aastase tütarlapse haigusjuhtu, mille puhul saadi hea raviefekt L-dopaga. Eesti Arst 2006; 85 (12): 841–84

Valproic Acid-Induced Pancreatitis in a 15-Year-Old Boy With Juvenile Myoclonic Epilepsy

Drug-induced acute pancreatitis is a rare condition in childhood, and information about the incidence of valproic acid-induced acute pancreatitis in the pediatric population is scarce. In this clinical case, we report a first documented pediatric case of valproic acid-induced pancreatitis in Estonia. A 15-year-old boy with juvenile myoclonic epilepsy developed acute pancreatitis after 2-month therapy with valproic acid. The symptoms of pancreatitis subsided within 1 week after the discontinuation of treatment with valproic acid. Acute pancreatitis should be suspected in any pedi- atric patient with gastrointestinal symptoms during valproate treatmen

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics. 2013;45(9):1067-1072.Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS)(1,2). The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 x 10(-18), Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS (P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE