Sy.Dravet-atypical form od severe myoclonic epilepsy in infancy

Purpose of this case report is to present patients in the age is 16.9 years with a rare atypical form of severe myoclonic epilepsy (SME) in infancy and poor outcome. The disease occurred in mild-infancy in form of repeated, lengthy hemiconvulsions, clonic or generalized tonic-clonic convulsions caused by fever, which had little reaction to a small applied anticonvulsive drugs. Current age of little and preschool children frequently appeared focal motor, generalized tonic-clonic seizures and with or without fever. Myoclonic nor atypical apsans attacks were not reported by any. The attacks were extremely stubborn on polytherapy. Were used at least 2 or 3 drugs simultaneously, and experienced all of our available antiepileptics and ketogen diet. The success of applied treatment was partial. In the second and third years reveals a very slow speech development, behavioral hyperactivity prevails with autistic elements. The motor is characteristically awkwardness (clumsiness). EEG recording was made several times in wakefulness, drowsiness and sleep disrupted showed a moderate basic activity with multifocal primary focal changes. Neither one revealed no generalized paroxysmal changes as well as paroxysmal response to fotostimulation. Neuroimagine search: CT brain was normal and MR of brain showed a small arachnoid cyst on the left temporo-basal to the other normal finding. Genetic analysis revealed a mutation in exons 12 SCN1A gene corresponding to the clinical syndrome of severe myoclonic epilepsy in infancy. The same analysis in the parents showed normal findings indicating the occurrence of fresh mutations in patients (de novo). The patient continues to have daily uncontrolled generalized tonic and / or clonic seizures, focal motor less frequently, usually during sleep, lasting 1-2 minutes, taking in therapy topiramat, klobazam, stiripentol. Expressed as moderate to severe mental retardation. The boy can not speak, but their demands expressed by mimics and gestures, self-moved, but it is extremely awkward (clumsy) with atactic walk. The participant is a school for children with special needs and is completely dependent on the care of another person

Meconium aspiration syndrome

Meconium is the first stool of the neonate. It is composed of substances that are swallowed by the fetus during „in utero“ period: epithelial cells, fetal hair, mucus, bile and water. Meconium aspiration syndrome (MAS) is defined as respiratory distress that develops soon after birth, with radiologically confirmed aspiration pneumonitis and presence of meconium stained amniotic fluid (MSAF). Prenatal asphyxia is the main cause of MAS. The exact mechanism of intrauterine meconium evacuation remains unknown, but it is thought that fetal distress and vagal stimulation are two possible causes. MSAF occurs in 5-22% of all pregnancies, and 1-12% of infants born from MSAF develop MAS. If the child is vigorous after birth, there is no need for specific therapeutic measures. However, if the neonate is depressed, it should be intubated and aspirated immediately. MAS is a condition that can present only with mild respiratory symptoms but also, lethal outcomes can be seen despite all treatment measures (mechanical ventilation + iNO + high frequency mechanical ventilation + ECMO). We present a case of male neonate, born at our institution ( 39+6/7 weeks of gestation) and admitted to our neonatal unit (level 2) with clinical signs of the MAS. The clinical picture was moderate and the radiologic findings were impressive. He was given surfactant and respiratory support with nasal Continuous Positive Airway Pressure (nCPAP) was started. We acchieved adequate oxygenation and ventilation, and the clinical picture improved in the next few days. Using non-invasive respiratory support, we minimized the possibility for the development of air leak syndromes and lung injury and preventing long term sequelae like cronic lung disease and bronchopulmonary dysplasia

CONNECTION OF PRENATAL EXPOSOME TO MICRONUTRIENTS (COPPER, ZINC, SELENIUM) AND NUTRITION OF PREGNANT WOMEN BY SEAFOOD WITH NEONATAL CEREBELLUM MEASURES AND CHILD NEURODEVELOPMENT AT THE AGE OF 18 MONTHS

Ciljevi istraživanja: Utvrditi postoji li povezanost učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica sa statusom bakra, cinka i selena iz krvi pupkovine i krvi majke. Primjenom ultrazvuka mozga analizirati utjecaj bakra, cinka i selena na anatomske karakteristike maloga mozga (širina i dužina) novorođenčadi te analizirati razlike navedenih karakteristika s obzirom na spol. Kod iste skupine djece u dobi od 18 mjeseci prenatalno izložene masenim udjelima bakra, cinka i selena usporediti motoričke, kognitivne i jezične karakteristike te analizirati s obzirom na spol. Utvrditi postojanost utjecaja dodatnih čimbenika na anatomske karakteristike maloga mozga (tjelesna masa majke prije trudnoće, prirast na tjelesnoj masi majke u trudnoći, visina majke i oca, paritet, edukacija i dob majke, status zaposlenosti majke, stanovanje u ruralnoj sredini, spol, unos alkohola i pušenje majke u trudnoći, prehrambene navike majke). Na temelju rezultata istraživanja sastaviti preporuke za pravilnu prehranu trudnica, a u svezi učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica. Ispitanici i metode: Dvjesto dvadeset i sedam majki i njihove djece bilo je uključeno u istraživanje, a za koje su tijekom prethodnih istraživanja prikupljeni podaci o učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica. Kod cijele skupine ispitanika određeni su maseni udjeli bakra, cinka i selena u krvi majke i u krvi pupkovine. U 49 novorođenčadi koristili su se dostupni podaci iz prethodnih istraživanja transfontanealne neurosonografije mozga učinjene trećeg dana života novorođenčeta kojom su se mjerile anatomske karakteristike maloga mozga ( širina i dužina) kao i rezultati Bayleytesta neuropsihološkog testiranja u dobi od 18 mjeseci u 160 djece, a u svrhu određivanja kognitivnih, motoričkih i jezičnih funkcija mozga. Rezultati: Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica doprinosi nižim masenim udjelima bakra i cinka u krvi trudnica i novorođenčadi, a ne utječe na masene udjele selena. Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica nije bila povezana s veličinom maloga mozga niti psihomotornim razvojem u dobi od 18 mjeseci. Nije bilo povezanosti masenih udjela bakra, cinka i selena sa širinom maloga mozga. Niži maseni udjeli selena i cinka u krvi trudnica bili su povezani s većom dužinom maloga mozga. Dužina maloga mozga pokazivala je slaba do umjerena pokazateljska svojstva za prepoznavanje djece čije su majke imale sniženu razinu cinka i selena u krvi. U multivarijatnom modelu utvrdili smo kako su maseni udio selena u krvi majke i maseni udio cinka u krvi pupkovine, nezavisno jedan od drugog, povezani s manjom dužinom maloga mozga. Širina maloga mozga (koja nije pokazivala značajnih korelacija s masenim udjelima mikroelemenata) negativno je povezana s psihomotornim razvojem djece i to izraženije u djece muškog spola. Dužina maloga mozga nije pokazivala korelacija s psihomotornim razvojem. Niži maseni udio bakra u krvi pupkovine i viši maseni udio cinka u krvi majke bili su povezani s boljim psihomotornim razvojem djece u ukupnom uzorku djece. Postoje spolne razlike, kako u psihomotornom razvoju u dobi od 18 mjeseci, tako i u korelacijama mikroelemenata s psihomotornim razvojem. Nismo utvrdili statistički značajne povezanosti širine i dužine maloga mozga s parametrima od interesa, kao niti s drugim zabilježenim parametrima (P>0,05 za sve analize). Zaključci: Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica utječe na razine bakra, cinka i selena u krvi majke i pupkovine, ali ne utječe na dužinu i širinu maloga mozga i psihomotorni razvoj djece u dobi od 18 mjeseci. Ovim istraživanjem možemo zaključiti kako dužina maloga mozga može biti dobar biomarker za otkrivanje prenatalne izloženosti cinku i selenu, ali ne i bakru. Rezultati povezanosti prenatalnog ekspozoma bakra, cinka i selena i prehrane trudnica namirnicama morskoga podrijetla s veličinom maloga mozga novorođenčeta i psihomotornim razvojem djece u dobi od 18 mjeseci ne utječu na dosadašnje smjernice da trudnice tijekom trudnoće konzumiraju jednu do dvije porcije ribe ili namirnica morskoga podrijetla tjedno.Objectives: Determine if there is a connection frequency of consumption of 150 g seafood in pregnant women with the status of copper, zinc and selenium from umbilical cord blood and maternal blood. Analyze the influence of copper, zinc and selenium on the anatomical characteristics of the cerebellum (width and length) of newborns using brain ultrasound and analyze differences characteristics with respect to sex. In the same group of children at 18 months of age prenatal exposed to copper, zinc and selenium mass fractions, compare motor, cognitive, and linguistic characteristics and analyze to sex. Determine the influence of additional factors on the anatomical characteristics of the cerebellum (maternal weight before pregnancy, maternal weight growth in pregnancy, maternal and paternal height, parity, maternal education and age, maternal employment status, rural housing, sex, alcohol intake and maternal smoking in pregnancy). Based on the results of the study, make recommendations on the eating habits of the mother during pregnancy with regard to consumption of seafood. Patients and methods: Two hundred and twenty-seven mothers and their children were included in the survey, for which data on frequency of consumption 150 g seafood in pregnant women were collected during previous research. Copper, zinc and selenium mass fractions in maternal and umbilical cord blood were determined in the entire group of subjects. Previous studies have used transfontaneal neurosonography data from the third day of life of the newborn in 49 children to measure anatomical features of the cerebellum (width and length) as well as the results of the Bayley Neuropsychological Test at the age of 18 months in 160 children for the purpose of determining the cognitive, motor and language functions of the brain. Results: Frequency of consumption 150 g seafood in pregnant women contributes to lower mass fractions of copper and zinc in the blood of pregnant women and newborns, and does not affect selenium mass fractions. Frequency of consumption 150 g seafood in pregnant women was not associated with cerebellar size or psychomotor development at 18 months of age. There was no correlation between copper, zinc and selenium mass fractions with cerebellar width. Lower mass fractions of selenium and zinc in the blood of pregnant women were associated with greater cerebellar length. The length of the cerebellum showed weak to moderate predisposing properties for recognizing children whose mothers had low levels of zinc and selenium in their blood. In a multivariate model, we found that the mass fraction of selenium in maternal blood and mass fraction of zinc in umbilical cord blood were independently associated with shorter cerebellar lengths. Cerebellar width ( which did not show significant correlations with micronutrient mass fractions) was negatively associated with psychomotor development in children, more pronounced in male children. The length of the cerebellum did not show a correlation with psychomotor development. Lower mass fractions of copper in umbilical cord blood and higher mass fractions of zinc in maternal blood were associated with better psychomotor development of children in the total sample. There are gender differences, both in psychomotor development at the age of 18 months and in the correlations of micronutrients with psychomotor development. We did not find statistically significant correlations of cerebellar width and length with parameters of interest, as well as with other recorded parametars ( P>0,05 for all analyzes). Conclusion: Frequency of consumption 150 g seafood in pregnant women affects the levels of copper, zinc and selenium in maternal blood and in umbilical cord blood, but does not affect on the cerebellar length and width and the psychomotor development at 18 months of age. Our research suggests that cerebellar length may be a good biomarker for detecting prenatal exposure to zinc and selenium, but not to cooper. The results of the association of prenatal exposure of copper, zinc and selenium and the diet of pregnant women with seafood with the size of the newbornꞌs cerebellum and psychomotor development at the age of 18 months do not affect current guidelines for pregnant women to consume one to two serving of fish or seafood per week

CONNECTION OF PRENATAL EXPOSOME TO MICRONUTRIENTS (COPPER, ZINC, SELENIUM) AND NUTRITION OF PREGNANT WOMEN BY SEAFOOD WITH NEONATAL CEREBELLUM MEASURES AND CHILD NEURODEVELOPMENT AT THE AGE OF 18 MONTHS

Ciljevi istraživanja: Utvrditi postoji li povezanost učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica sa statusom bakra, cinka i selena iz krvi pupkovine i krvi majke. Primjenom ultrazvuka mozga analizirati utjecaj bakra, cinka i selena na anatomske karakteristike maloga mozga (širina i dužina) novorođenčadi te analizirati razlike navedenih karakteristika s obzirom na spol. Kod iste skupine djece u dobi od 18 mjeseci prenatalno izložene masenim udjelima bakra, cinka i selena usporediti motoričke, kognitivne i jezične karakteristike te analizirati s obzirom na spol. Utvrditi postojanost utjecaja dodatnih čimbenika na anatomske karakteristike maloga mozga (tjelesna masa majke prije trudnoće, prirast na tjelesnoj masi majke u trudnoći, visina majke i oca, paritet, edukacija i dob majke, status zaposlenosti majke, stanovanje u ruralnoj sredini, spol, unos alkohola i pušenje majke u trudnoći, prehrambene navike majke). Na temelju rezultata istraživanja sastaviti preporuke za pravilnu prehranu trudnica, a u svezi učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica. Ispitanici i metode: Dvjesto dvadeset i sedam majki i njihove djece bilo je uključeno u istraživanje, a za koje su tijekom prethodnih istraživanja prikupljeni podaci o učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica. Kod cijele skupine ispitanika određeni su maseni udjeli bakra, cinka i selena u krvi majke i u krvi pupkovine. U 49 novorođenčadi koristili su se dostupni podaci iz prethodnih istraživanja transfontanealne neurosonografije mozga učinjene trećeg dana života novorođenčeta kojom su se mjerile anatomske karakteristike maloga mozga ( širina i dužina) kao i rezultati Bayleytesta neuropsihološkog testiranja u dobi od 18 mjeseci u 160 djece, a u svrhu određivanja kognitivnih, motoričkih i jezičnih funkcija mozga. Rezultati: Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica doprinosi nižim masenim udjelima bakra i cinka u krvi trudnica i novorođenčadi, a ne utječe na masene udjele selena. Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica nije bila povezana s veličinom maloga mozga niti psihomotornim razvojem u dobi od 18 mjeseci. Nije bilo povezanosti masenih udjela bakra, cinka i selena sa širinom maloga mozga. Niži maseni udjeli selena i cinka u krvi trudnica bili su povezani s većom dužinom maloga mozga. Dužina maloga mozga pokazivala je slaba do umjerena pokazateljska svojstva za prepoznavanje djece čije su majke imale sniženu razinu cinka i selena u krvi. U multivarijatnom modelu utvrdili smo kako su maseni udio selena u krvi majke i maseni udio cinka u krvi pupkovine, nezavisno jedan od drugog, povezani s manjom dužinom maloga mozga. Širina maloga mozga (koja nije pokazivala značajnih korelacija s masenim udjelima mikroelemenata) negativno je povezana s psihomotornim razvojem djece i to izraženije u djece muškog spola. Dužina maloga mozga nije pokazivala korelacija s psihomotornim razvojem. Niži maseni udio bakra u krvi pupkovine i viši maseni udio cinka u krvi majke bili su povezani s boljim psihomotornim razvojem djece u ukupnom uzorku djece. Postoje spolne razlike, kako u psihomotornom razvoju u dobi od 18 mjeseci, tako i u korelacijama mikroelemenata s psihomotornim razvojem. Nismo utvrdili statistički značajne povezanosti širine i dužine maloga mozga s parametrima od interesa, kao niti s drugim zabilježenim parametrima (P>0,05 za sve analize). Zaključci: Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica utječe na razine bakra, cinka i selena u krvi majke i pupkovine, ali ne utječe na dužinu i širinu maloga mozga i psihomotorni razvoj djece u dobi od 18 mjeseci. Ovim istraživanjem možemo zaključiti kako dužina maloga mozga može biti dobar biomarker za otkrivanje prenatalne izloženosti cinku i selenu, ali ne i bakru. Rezultati povezanosti prenatalnog ekspozoma bakra, cinka i selena i prehrane trudnica namirnicama morskoga podrijetla s veličinom maloga mozga novorođenčeta i psihomotornim razvojem djece u dobi od 18 mjeseci ne utječu na dosadašnje smjernice da trudnice tijekom trudnoće konzumiraju jednu do dvije porcije ribe ili namirnica morskoga podrijetla tjedno.Objectives: Determine if there is a connection frequency of consumption of 150 g seafood in pregnant women with the status of copper, zinc and selenium from umbilical cord blood and maternal blood. Analyze the influence of copper, zinc and selenium on the anatomical characteristics of the cerebellum (width and length) of newborns using brain ultrasound and analyze differences characteristics with respect to sex. In the same group of children at 18 months of age prenatal exposed to copper, zinc and selenium mass fractions, compare motor, cognitive, and linguistic characteristics and analyze to sex. Determine the influence of additional factors on the anatomical characteristics of the cerebellum (maternal weight before pregnancy, maternal weight growth in pregnancy, maternal and paternal height, parity, maternal education and age, maternal employment status, rural housing, sex, alcohol intake and maternal smoking in pregnancy). Based on the results of the study, make recommendations on the eating habits of the mother during pregnancy with regard to consumption of seafood. Patients and methods: Two hundred and twenty-seven mothers and their children were included in the survey, for which data on frequency of consumption 150 g seafood in pregnant women were collected during previous research. Copper, zinc and selenium mass fractions in maternal and umbilical cord blood were determined in the entire group of subjects. Previous studies have used transfontaneal neurosonography data from the third day of life of the newborn in 49 children to measure anatomical features of the cerebellum (width and length) as well as the results of the Bayley Neuropsychological Test at the age of 18 months in 160 children for the purpose of determining the cognitive, motor and language functions of the brain. Results: Frequency of consumption 150 g seafood in pregnant women contributes to lower mass fractions of copper and zinc in the blood of pregnant women and newborns, and does not affect selenium mass fractions. Frequency of consumption 150 g seafood in pregnant women was not associated with cerebellar size or psychomotor development at 18 months of age. There was no correlation between copper, zinc and selenium mass fractions with cerebellar width. Lower mass fractions of selenium and zinc in the blood of pregnant women were associated with greater cerebellar length. The length of the cerebellum showed weak to moderate predisposing properties for recognizing children whose mothers had low levels of zinc and selenium in their blood. In a multivariate model, we found that the mass fraction of selenium in maternal blood and mass fraction of zinc in umbilical cord blood were independently associated with shorter cerebellar lengths. Cerebellar width ( which did not show significant correlations with micronutrient mass fractions) was negatively associated with psychomotor development in children, more pronounced in male children. The length of the cerebellum did not show a correlation with psychomotor development. Lower mass fractions of copper in umbilical cord blood and higher mass fractions of zinc in maternal blood were associated with better psychomotor development of children in the total sample. There are gender differences, both in psychomotor development at the age of 18 months and in the correlations of micronutrients with psychomotor development. We did not find statistically significant correlations of cerebellar width and length with parameters of interest, as well as with other recorded parametars ( P>0,05 for all analyzes). Conclusion: Frequency of consumption 150 g seafood in pregnant women affects the levels of copper, zinc and selenium in maternal blood and in umbilical cord blood, but does not affect on the cerebellar length and width and the psychomotor development at 18 months of age. Our research suggests that cerebellar length may be a good biomarker for detecting prenatal exposure to zinc and selenium, but not to cooper. The results of the association of prenatal exposure of copper, zinc and selenium and the diet of pregnant women with seafood with the size of the newbornꞌs cerebellum and psychomotor development at the age of 18 months do not affect current guidelines for pregnant women to consume one to two serving of fish or seafood per week

CONNECTION OF PRENATAL EXPOSOME TO MICRONUTRIENTS (COPPER, ZINC, SELENIUM) AND NUTRITION OF PREGNANT WOMEN BY SEAFOOD WITH NEONATAL CEREBELLUM MEASURES AND CHILD NEURODEVELOPMENT AT THE AGE OF 18 MONTHS

Ciljevi istraživanja: Utvrditi postoji li povezanost učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica sa statusom bakra, cinka i selena iz krvi pupkovine i krvi majke. Primjenom ultrazvuka mozga analizirati utjecaj bakra, cinka i selena na anatomske karakteristike maloga mozga (širina i dužina) novorođenčadi te analizirati razlike navedenih karakteristika s obzirom na spol. Kod iste skupine djece u dobi od 18 mjeseci prenatalno izložene masenim udjelima bakra, cinka i selena usporediti motoričke, kognitivne i jezične karakteristike te analizirati s obzirom na spol. Utvrditi postojanost utjecaja dodatnih čimbenika na anatomske karakteristike maloga mozga (tjelesna masa majke prije trudnoće, prirast na tjelesnoj masi majke u trudnoći, visina majke i oca, paritet, edukacija i dob majke, status zaposlenosti majke, stanovanje u ruralnoj sredini, spol, unos alkohola i pušenje majke u trudnoći, prehrambene navike majke). Na temelju rezultata istraživanja sastaviti preporuke za pravilnu prehranu trudnica, a u svezi učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica. Ispitanici i metode: Dvjesto dvadeset i sedam majki i njihove djece bilo je uključeno u istraživanje, a za koje su tijekom prethodnih istraživanja prikupljeni podaci o učestalosti konzumiranja 150 g hrane morskoga podrijetla kod trudnica. Kod cijele skupine ispitanika određeni su maseni udjeli bakra, cinka i selena u krvi majke i u krvi pupkovine. U 49 novorođenčadi koristili su se dostupni podaci iz prethodnih istraživanja transfontanealne neurosonografije mozga učinjene trećeg dana života novorođenčeta kojom su se mjerile anatomske karakteristike maloga mozga ( širina i dužina) kao i rezultati Bayleytesta neuropsihološkog testiranja u dobi od 18 mjeseci u 160 djece, a u svrhu određivanja kognitivnih, motoričkih i jezičnih funkcija mozga. Rezultati: Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica doprinosi nižim masenim udjelima bakra i cinka u krvi trudnica i novorođenčadi, a ne utječe na masene udjele selena. Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica nije bila povezana s veličinom maloga mozga niti psihomotornim razvojem u dobi od 18 mjeseci. Nije bilo povezanosti masenih udjela bakra, cinka i selena sa širinom maloga mozga. Niži maseni udjeli selena i cinka u krvi trudnica bili su povezani s većom dužinom maloga mozga. Dužina maloga mozga pokazivala je slaba do umjerena pokazateljska svojstva za prepoznavanje djece čije su majke imale sniženu razinu cinka i selena u krvi. U multivarijatnom modelu utvrdili smo kako su maseni udio selena u krvi majke i maseni udio cinka u krvi pupkovine, nezavisno jedan od drugog, povezani s manjom dužinom maloga mozga. Širina maloga mozga (koja nije pokazivala značajnih korelacija s masenim udjelima mikroelemenata) negativno je povezana s psihomotornim razvojem djece i to izraženije u djece muškog spola. Dužina maloga mozga nije pokazivala korelacija s psihomotornim razvojem. Niži maseni udio bakra u krvi pupkovine i viši maseni udio cinka u krvi majke bili su povezani s boljim psihomotornim razvojem djece u ukupnom uzorku djece. Postoje spolne razlike, kako u psihomotornom razvoju u dobi od 18 mjeseci, tako i u korelacijama mikroelemenata s psihomotornim razvojem. Nismo utvrdili statistički značajne povezanosti širine i dužine maloga mozga s parametrima od interesa, kao niti s drugim zabilježenim parametrima (P>0,05 za sve analize). Zaključci: Učestalost konzumiranja 150 g hrane morskoga podrijetla kod trudnica utječe na razine bakra, cinka i selena u krvi majke i pupkovine, ali ne utječe na dužinu i širinu maloga mozga i psihomotorni razvoj djece u dobi od 18 mjeseci. Ovim istraživanjem možemo zaključiti kako dužina maloga mozga može biti dobar biomarker za otkrivanje prenatalne izloženosti cinku i selenu, ali ne i bakru. Rezultati povezanosti prenatalnog ekspozoma bakra, cinka i selena i prehrane trudnica namirnicama morskoga podrijetla s veličinom maloga mozga novorođenčeta i psihomotornim razvojem djece u dobi od 18 mjeseci ne utječu na dosadašnje smjernice da trudnice tijekom trudnoće konzumiraju jednu do dvije porcije ribe ili namirnica morskoga podrijetla tjedno.Objectives: Determine if there is a connection frequency of consumption of 150 g seafood in pregnant women with the status of copper, zinc and selenium from umbilical cord blood and maternal blood. Analyze the influence of copper, zinc and selenium on the anatomical characteristics of the cerebellum (width and length) of newborns using brain ultrasound and analyze differences characteristics with respect to sex. In the same group of children at 18 months of age prenatal exposed to copper, zinc and selenium mass fractions, compare motor, cognitive, and linguistic characteristics and analyze to sex. Determine the influence of additional factors on the anatomical characteristics of the cerebellum (maternal weight before pregnancy, maternal weight growth in pregnancy, maternal and paternal height, parity, maternal education and age, maternal employment status, rural housing, sex, alcohol intake and maternal smoking in pregnancy). Based on the results of the study, make recommendations on the eating habits of the mother during pregnancy with regard to consumption of seafood. Patients and methods: Two hundred and twenty-seven mothers and their children were included in the survey, for which data on frequency of consumption 150 g seafood in pregnant women were collected during previous research. Copper, zinc and selenium mass fractions in maternal and umbilical cord blood were determined in the entire group of subjects. Previous studies have used transfontaneal neurosonography data from the third day of life of the newborn in 49 children to measure anatomical features of the cerebellum (width and length) as well as the results of the Bayley Neuropsychological Test at the age of 18 months in 160 children for the purpose of determining the cognitive, motor and language functions of the brain. Results: Frequency of consumption 150 g seafood in pregnant women contributes to lower mass fractions of copper and zinc in the blood of pregnant women and newborns, and does not affect selenium mass fractions. Frequency of consumption 150 g seafood in pregnant women was not associated with cerebellar size or psychomotor development at 18 months of age. There was no correlation between copper, zinc and selenium mass fractions with cerebellar width. Lower mass fractions of selenium and zinc in the blood of pregnant women were associated with greater cerebellar length. The length of the cerebellum showed weak to moderate predisposing properties for recognizing children whose mothers had low levels of zinc and selenium in their blood. In a multivariate model, we found that the mass fraction of selenium in maternal blood and mass fraction of zinc in umbilical cord blood were independently associated with shorter cerebellar lengths. Cerebellar width ( which did not show significant correlations with micronutrient mass fractions) was negatively associated with psychomotor development in children, more pronounced in male children. The length of the cerebellum did not show a correlation with psychomotor development. Lower mass fractions of copper in umbilical cord blood and higher mass fractions of zinc in maternal blood were associated with better psychomotor development of children in the total sample. There are gender differences, both in psychomotor development at the age of 18 months and in the correlations of micronutrients with psychomotor development. We did not find statistically significant correlations of cerebellar width and length with parameters of interest, as well as with other recorded parametars ( P>0,05 for all analyzes). Conclusion: Frequency of consumption 150 g seafood in pregnant women affects the levels of copper, zinc and selenium in maternal blood and in umbilical cord blood, but does not affect on the cerebellar length and width and the psychomotor development at 18 months of age. Our research suggests that cerebellar length may be a good biomarker for detecting prenatal exposure to zinc and selenium, but not to cooper. The results of the association of prenatal exposure of copper, zinc and selenium and the diet of pregnant women with seafood with the size of the newbornꞌs cerebellum and psychomotor development at the age of 18 months do not affect current guidelines for pregnant women to consume one to two serving of fish or seafood per week

Sy.Dravet-atypical form od severe myoclonic epilepsy in infancy

Purpose of this case report is to present patients in the age is 16.9 years with a rare atypical form of severe myoclonic epilepsy (SME) in infancy and poor outcome. The disease occurred in mild-infancy in form of repeated, lengthy hemiconvulsions, clonic or generalized tonic-clonic convulsions caused by fever, which had little reaction to a small applied anticonvulsive drugs. Current age of little and preschool children frequently appeared focal motor, generalized tonic-clonic seizures and with or without fever. Myoclonic nor atypical apsans attacks were not reported by any. The attacks were extremely stubborn on polytherapy. Were used at least 2 or 3 drugs simultaneously, and experienced all of our available antiepileptics and ketogen diet. The success of applied treatment was partial. In the second and third years reveals a very slow speech development, behavioral hyperactivity prevails with autistic elements. The motor is characteristically awkwardness (clumsiness). EEG recording was made several times in wakefulness, drowsiness and sleep disrupted showed a moderate basic activity with multifocal primary focal changes. Neither one revealed no generalized paroxysmal changes as well as paroxysmal response to fotostimulation. Neuroimagine search: CT brain was normal and MR of brain showed a small arachnoid cyst on the left temporo-basal to the other normal finding. Genetic analysis revealed a mutation in exons 12 SCN1A gene corresponding to the clinical syndrome of severe myoclonic epilepsy in infancy. The same analysis in the parents showed normal findings indicating the occurrence of fresh mutations in patients (de novo). The patient continues to have daily uncontrolled generalized tonic and / or clonic seizures, focal motor less frequently, usually during sleep, lasting 1-2 minutes, taking in therapy topiramat, klobazam, stiripentol. Expressed as moderate to severe mental retardation. The boy can not speak, but their demands expressed by mimics and gestures, self-moved, but it is extremely awkward (clumsy) with atactic walk. The participant is a school for children with special needs and is completely dependent on the care of another person

Meconium aspiration syndrome

Meconium is the first stool of the neonate. It is composed of substances that are swallowed by the fetus during „in utero“ period: epithelial cells, fetal hair, mucus, bile and water. Meconium aspiration syndrome (MAS) is defined as respiratory distress that develops soon after birth, with radiologically confirmed aspiration pneumonitis and presence of meconium stained amniotic fluid (MSAF). Prenatal asphyxia is the main cause of MAS. The exact mechanism of intrauterine meconium evacuation remains unknown, but it is thought that fetal distress and vagal stimulation are two possible causes. MSAF occurs in 5-22% of all pregnancies, and 1-12% of infants born from MSAF develop MAS. If the child is vigorous after birth, there is no need for specific therapeutic measures. However, if the neonate is depressed, it should be intubated and aspirated immediately. MAS is a condition that can present only with mild respiratory symptoms but also, lethal outcomes can be seen despite all treatment measures (mechanical ventilation + iNO + high frequency mechanical ventilation + ECMO). We present a case of male neonate, born at our institution ( 39+6/7 weeks of gestation) and admitted to our neonatal unit (level 2) with clinical signs of the MAS. The clinical picture was moderate and the radiologic findings were impressive. He was given surfactant and respiratory support with nasal Continuous Positive Airway Pressure (nCPAP) was started. We acchieved adequate oxygenation and ventilation, and the clinical picture improved in the next few days. Using non-invasive respiratory support, we minimized the possibility for the development of air leak syndromes and lung injury and preventing long term sequelae like cronic lung disease and bronchopulmonary dysplasia

Prenatal selenium status, neonatal cerebellum measures and child neurodevelopment at the age of 18 months

Objectives: The aim of this study was to evaluate the association of maternal blood selenium (Se) levels and cord blood Se levels with neonatal cerebellum measures and child neurodevelopment at the age of 18 months. Moreover, to investigate whether the neonatal cerebellum measures could be used as a potential biomarker for selenium homeostasis during pregnancy. Study group and methods: The study population consisted of 205 mother-child pairs from Croatian Mother and Child Cohort. Maternal blood and cord blood were obtained at delivery and selenium level was analyzed by Inductively Coupled Plasma Mass Spectrometry. Cranial ultrasonography examination was performed on 49 newborns – cerebellum length and width have been measured. Neurodevelopmental assessment of cognitive, language and motor skills were conducted on 154 children, using The Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), at the age of 18 months. Results: The mean levels of selenium in maternal blood and cord blood were 92.6 ng/g and 97.0 ng/g, respectively. Maternal blood selenium levels were moderately and negatively correlated (r = −0.372 ; p = 0.008) with cerebellum length, while cord blood selenium levels were positively correlated with cerebellum width (r = 0.613 ; p = 0.007) among female children group. Maternal blood selenium levels were weakly and positively correlated (r = 0.176 ; p = 0.029) with child's cognitive abilities. Conclusion: To the best of our knowledge, our study is the first one investigating the association between neonatal brain measures and selenium levels in mother-child pairs. Our results indicate that prenatal selenium intake correlated with cerebellum length and width measured by cranial ultrasonography. Hence, cerebellum may be used as a potential biomarker and a target “organ” for early detection of possible adverse effects of prenatal status to various micronutrients