Early postnatal metabolic profile in neonates with critical CHDs.

Background: Cyanotic CHD is a life-threatening condition that presents with low oxygen saturation in the newborn period. Hypoxemia might cause alterations in the metabolic pathways. In the present study, we aimed to evaluate the early postnatal amino acid and carnitine/acylcarnitine profiles of newborn infants with cyanotic CHD.

Ex vivo study: is it possible to overcome the blurriness caused by holmium laser fragmentation of kidney stones?

Better endoscopic vision is mandatory for successful ureteroscopic stone operations to achieve shorter operating time. However, an important impairing factor for a good endoscopic view is the cloudiness of vision which was formed during laser fragmentation. Holmium laser fragmentation of calcium oxalate stones produces calcium carbonate solubility of which is dependent on pH, citrate, and phosphate.

Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population.

Background The tandem mass spectrometry method in the screening of congenital metabolic disorders is not included in routine national newborn screening programmes in Turkey. To evaluate the distribution of acylcarnitines and amino acid levels in normal newborns, establish acylcarnitine and amino acid cut-off levels and further preliminary results of inherited metabolic disorders inferentially in the Turkish population. Methods Newborn screening tests performed by tandem MS from 2016 to 2018 were retrospectively reviewed.

Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.

Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day.

Effects of bone morphogenetic proteins on osteoblast cells: vascular endothelial growth factor, calcium, inorganic phosphate, and nitric oxide levels.

Purpose: Bone morphogenetic proteins (BMPs) play an important role in the initiation of bone formation by affecting cell growth and differentiation in a variety of cell types including osteoblasts. Vascular endothelial growth factor (VEGF) is an important regulator of angiogenesis and vasculogenesis, and also, VEGF signaling is important for skeletal development. Nitric oxide (NO), calcium (Ca), and inorganic Phosphate (Pi) are important molecules for cell functions.

Tumor necrosis factor alpha (-308), interleukin-6 (-174) and interleukin-10 (-1082) gene polymorphisms in polycystic ovary syndrome.

Objective: The imbalance between pro- and anti-inflammatory cytokines and polymorphism of cytokine genes may play a role in the etiology of the polycystic ovary syndrome (PCOS). The aim of this study was to investigate the association of polymorphisms of TNFalpha, IL-6 and IL-10 genes with the occurrence and the clinical/laboratory characteristics of PCOS in the Turkish population.

Study Design: Single nucleotide polymorphisms (SNPs) of TNFalpha (-308 G/A), IL-6 (-174 G/C), IL-10 (-1082 G/A) genes in DNA from peripheral blood leukocytes of 97 PCOS patients and 95 healthy control women were investigated.

Tumor necrosis factor alpha, interleukin-6 and interleukin-10 polymorphisms in preeclampsia.

Aim: Preeclampsia (PE) is one of the most serious disorders of pregnancy. The imbalance between pro- and anti-inflammatory cytokines may play a role in its etiology. The aim of the present study was to investigate whether cytokine gene polymorphism is associated with PE, and to evaluate the relationship between genotypes and clinical/laboratory manifestation of PE.

Genetic polymorphisms in DNA repair gene APE1, XRCC1 and XPD and the risk of pre-eclampsia.

Objective: Oxidative stress has been postulated as a major contributor to placental hypoperfusion and ischemia in pre-eclampsia (PE). Reactive oxygen species (ROS) generated during placental ischemia can cause oxidative damage to nucleic acids. Base excision repair (BER) and nucleotide excision repair (NER) are major pathways responsible for removing the oxidative DNA damage.