The aim of this study was to analyze the association of different clinical contributors of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. A total of 110 children with hypoxic-ischemic ...encephalopathy and 128 control children were selected for this study. Association of gender, gestational age, birth weight, Apgar score, cranial ultrasonography, and magnetic resonance imaging findings with genotypic data of six haplotype-tagging single nucleotide polymorphisms and the most commonly investigated rs1800779 and rs2070744 polymorphisms was analyzed. The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and they had the most severe brain damage. Increased incidence of the TT genotype of the NOS3 rs1808593 SNP was found in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage. The probability of brain damage was twice as high in children with the TT genotype than in children with the TG genotype of the same polymorphism. Furthermore, the T allele of the same polymorphism was twice as frequent in children with lower Apgar scores. This study strongly suggests associations of NOS3 gene polymorphism with intensity of brain damage and severity of the clinical picture in affected children.
Objective The aim investigate neurodevelopment outcome in children with isolated umbilical'cord stragulation at age of 3. Also investigate neurodevelopment outcome health children and two groups ...related between. Methods Investigation provide during period from 2005. to 2013. On Ginecological and Opstetric department Cantonal – Hospital Dr Irfan Ljubičić Bihać and Hospital Sanski Most and Ginecological Obstretical outpatients Dr Karabeg. We studied prospectively 56 term infants with umbilical'cord strangulation excluded other malformation and chromosomotaphies. Umbilical cord anomaly had been diagnosed by a gynecologist and pathologist according to Fox' classification. Longitudinal neurodevelopment was prospectively followed multidisciplinary to age three. Study included evaluated neurological, psychological, language and cognitive function. Results At age three 36 children (ADHD – 4, visual disturbances – 6, ear disorder – 10, epilepsy – 4, cerebral palsy – 2, hemiparetic form – 2, milder derogation – 8) of 56 indicate different neurodevelopment disability. ADHD 4, It was statistical significant regarding health children. Conclusion It is very important that term infant with umbilical'cord strangulation include in longitudinal prospectively neurodevelopment follow, because early detection deviation and early include in habilitation succeed better outcome.
Novorođenče ima ograničeni repertoar iskazivanja teškoća, pa su konvulzije često jedina neurološka manifestacija ozbiljne bolesti središnjeg živčanog sustava ili pratećega podliježećeg poremećaja. ...Incidencija neonatalnih konvulzija kreće se od 3,5-4,4/1000 živorođene djece s tendencijom povećanja smanjenjem životne dobi. Konvulzije koje se dogode nezrelom mozgu mogu uzrokovati ireverzibilne promjene neuronskih sinapsa i tako mogu biti odgovorne za razvojne poremećaje mozga, što čini podlogu za nastavak konvulzija. S obzirom na kliničku sliku, EEG promjene kao i kasniju prognozu dijelimo ih na dobroćudne i teške.epileptičke sindrome. One mogu bit uzrokovane genetskim poremećajima kao što su konvulzije ovisne o piridoksinu, neketotična hiperglicinemia, nedostatak sulfitne oksidaze, konvulzije koje reagiraju na folnu kiselinu i nedostatak protein- transportera glukoze (GLUT-1 deficiency) te benigne obiteljske konvulzije zbog poremećaja kalijevih kanala. Konvulzije izazvane ovim poremećajima često su refrakterne na uobičajenu antiepileptičku terapiju. Rana dijagnoza novorođenačkih konvulzija je važna, jer često otkriva prisutnost teških strukturalnih poremećaja mozga koji u podlozi imaju genetski poremećaj i zahtijevaju specifično liječenje.
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