V maternici je plod obdan s plodovnico, ki ga varuje pred poškodbami in okužbami, hkrati pa z njeno pomočjo plod uravnava telesno temperaturo in se ustrezno razvija. Količina plodovnice je ravnovesje ...med prilivom in porabo. Ob zmanjšani ali odsotni količini plodovnice govorimo o oligohidramniju oziroma anhidramniju. Vzrokov za zmanjšano količino plodovnice je veliko. Lahko so posledica bolezni pri materi ali plodu oziroma so posledica nepravilnosti posteljice. V določenem deležu primerov ostanejo vzroki za oligohidramnij nepojasnjeni (idiopatski). V prispevku predstavljamo klinični primer novorojenke, pri kateri je bil prisoten oligohidramnij in je ob rojstvu razvila prehodno akutno ledvično okvaro.
Nekonjugirana hiperbilirubinemija je v neonatalem obdobju pogost pojav. Vzroki zanjo so številni, od prekomerne produkcije bilirubina, motenega privzema v jetrih in motene konjugacije bilirubina do ...povečane enterohepatične cirkulacije. Če s preiskavami ne opredelimo njenega vzroka, se poslužimo genetskega diagnosticiranja. Genetska osnova nekonjugirane hiperbilirubinemije je široka in obsega veliko število genov. Najpogostejši in najbolj raziskani so hemolitični vzroki in motnje v konjugaciji bilirubina. V zadnjem času je vse več podatkov tudi o polimorfizmu genov kot vzroku nekonjugirane hiperbilirubinemije.
Crigler-Najjarjev sindrom je redka genetska bolezen, ki povzroča izrazito nekonjugirano hiperbilirubinemijo. Gre za mutacijo v genu UGT1A1, ki povzroča pomanjkanje ali popolno odsotnost encima ...UGT1A1, ki je odgovoren za konjugacijo bilirubina v telesu. če bolezni ne prepoznamo, lahko zapusti hude nevrološke posledice. Za ugoden izid je ključna čim prejšnja uvedba fototerapije. S fototerapijo in dodatnimi metodami zdravljenja sta se življenjska doba in kakovost življenja pri bolnikih s Crigler-Najjarjevim sindromom zelo izboljšali. Trenutno je edina dokončna oblika zdravljenja presaditev jeter, medtem ko so novejše metode zdravljenja še v fazi kliničnih raziskav.
Indirect hyperbilirubinaemia is a common finding in the neonatal period. There are numerous causes of neonatal indirect hyperbilirubinemia, from excessive bilirubin production, impaired hepatic ...bilirubin uptake or bilirubin conjugation and increased enterohepatic circulation. Genetic testing is increasingly used when investigations do not determine the cause of unconjugated hyperbilirubinaemia. The genetic basis of indirect hyperbilirubinaemia is broad and encompasses a large number of genes. The most commonly encountered and researched are haemolytic causes of hyperbilirubinaemia and disorders of bilirubin conjugation. Recently, however, there is growing evidence of gene polymorphism as a cause of unconjugated hyperbilirubinaemia in the neonatal period.
: From the conception onward, certain parameters associated with maternal health may affect foetal body composition, growth and bone mineral content.
The objective of the study was to determine the ...association between maternal vitamin D and adiponectin status with the anthropometrical measures of newborns, and bone health status measured by Quantitative Ultrasound (QUS) at birth.
: Circulating 25OHD and adiponectin concentration were measured in 73 pregnant women. Correlations with the anthropometrical measures and bone health status in their infants were studied. Bone health was evaluated using QUS with the measurements of speed of sound (SOS, in m/s) and Z score on the right tibia.
: There was no significant association between maternal 25OHD and newborn’s anthropometrical measures at birth (weight p=0.35, length p=0.59 and head circumference p=0.47). There was a significant negative correlation between a maternal serum adiponectin and a) weight of infants at birth (R= -0.37, p=0.002); b) birth length (R= -0.31, p=0.008) and c) head circumference (R= -0.29, p=0.014). There was no significant correlation between maternal 25OHD blood levels during pregnancy and SOS in newborns (p=0.48). Additionally, a correlation between maternal adiponectin concentration during pregnancy and SOS in newborns was not significant (p=0.82).
: Although a high prevalence of low 25OHD level among pregnant women was found, maternal vitamin D status did not influence growth and bone health of their offspring at birth. Maternal adiponectin levels in plasma showed an inverse relationship with anthropometrical measures of infants at birth, while no correlation with the newborn’s bone health was found.
Background/Aims: Vitamin D deficiency is a common underdiagnosed condition. The aim of this was to analyze the status of vitamin D and its determinants in healthy Slovenian pregnant women. Methods: A ...total of 132 volunteer pregnant women completed a questionnaire including baseline demographics, food frequency, physical activities; anthropometrical measurements, body mass index and levels of 25-(OH)D in serum were performed during the third trimester, and dietary intakes were assessed during the 27-28th week of gestation. Results: Vitamin D deficiency was present in 14% while insufficiency was present in 41% of women. The risk for inadequacy was higher in women older than 30 years (p = 0.01), in those with less frequent outdoor physical activity (p = 0.01) and in pregnancies during the low sun exposure season (p = 0.04). Insufficiency was not significantly more frequent in less educated women, unemployed and in those living in urban area. The median value of vitamin D from habitual dietary intake was 1.5 µg/day (range 0.1-13.4) and did not influence 25-hydroxyvitamin D level (p = 0.91). Conclusions: The prevalence of vitamin D inadequacy was 55% and was dependent on age, season and outdoor physical activities. The results suggest a discrepancy between vitamin D intake through habitual diet and the reference needs.
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