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. METHODS: A single centre case-control study was conducted. Twenty-seven patients with cyanotic CHD and 54 healthy newborn controls were enrolled. As part of the neonatal screening programme, results of amino acid and carnitine/acylcarnitine were recorded and compared between groups. RESULTS: Twenty-seven neonates with cyanotic CHD and 54 healthy newborns as controls were enrolled in the study. Cyanotic CHD neonates had higher levels of alanine, phenylalanine, leucine/isoleucine, citrulline, ornithine, C5, C5-OH; but lower levels of C3, C10, C12, C14, C14:1, C16, C16.1, C18, C5-DC, C6-DC, C16-OH, C16:1-OH when compared with the healthy controls. CONCLUSION: This study showed that there are differences between patients with cyanotic CHD and healthy controls in terms of postnatal amino acid and carnitine/acylcarnitine profiles.

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. In this ex vivo research, the solubility of calcium carbonate has been investigated in solutions composed of various concentrations of citrate and phosphate buffered at different pH levels after laser fragmentation of calcium oxalate stones. Calcium oxalate stones were placed into the laboratory tubes filled with various concentrations of citrate-phosphate buffers with different pH values. Laser energy in dusting mode was applied to the stones and spectrophotometric measurement for optical density (OD) was calculated for each buffered solution for clarity comparison. In the first phase, solutions composed of four different molar concentrations of citrate-phosphate buffer (0.2, 0.3, 0.4 and 0.5 molars) at various pH levels were used. Then, the next phase of the study was designed to compare solutions demonstrating the lowest OD values with an isotonic saline solution. The results were most convenient at 0.5 molarity (pH = 6) followed by 0.4 molarity (pH = 7) in the first phase (OD values of 0.054 and 0.065, respectively). In the next phase, OD values of both buffered solutions were significantly lower than those of isotonic saline solution (p = 0). Two specific buffers have provided better optic visibility values after laser fragmentation supporting their use as an irrigation solution for the favor of less cloudiness.

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. In this study, the effects of BMP on VEGF, Ca, NO, and Pi levels were investigated in an osteoblast cell culture. MATERIALS: Fifty thousand cells per milliliter were seeded and cultured on graft materials for 24 and 48 hours. Different concentrations of BMPs (combination of BMPs numbered from 1 to 14) were supplemented to the medium. RESULTS: BMP was found to increase VEGF (P = 0.00), Ca (P = 0.02), and Pi (P = 0.00) especially in the first 24 hours. The increase in the NO in the experimental groups were found to be statistically insignificant (P = 0.12). CONCLUSION: Our data state that further investigation should be performed on the effects of BMPs on osteoblast cell membranes and membrane receptors and cell signaling, together with their known effects on early phases of bone and vascular epithelial tissue formation.

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. The study group included 17,066 newborns born in our hospitals located in various regions of Turkey. Blood samples were obtained from infants older than 24 h of age. Among the 17,066 newborns, the metabolic screening data of 9,994 full-term newborns (>37 weeks) were employed to obtain the percentile distribution of the normal population. The study group (17,066) was screened for 26 types of inborn error of metabolism. Results Our established cut-offs, were compared with the cut-offs determined by Region for Stork Study and Centers for Disease Control. Among the 26 screened disorders, a total of 12 cases (8 amino acid metabolism disorders, 1 urea cycle defect, 2 organic acidaemias and 1 fatty acid oxidation disorder) were identified. Conclusions Because of the high rate of consanguineous marriages in Turkey, the development of a nationwide screening panel is necessary for early detection and management of potentially treatable inherited metabolic disorders.

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. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis. Urinary organic acids were evaluated for the confirmation and revealed a high glutaric acid excretion. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, riboflavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor development was normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.