Rare Birth Defects in Pregnancies of Women with Pregestational Diabetes: Absent Radius

Diabetes mellitus (DM) is an important disease that negatively affects fetal development and women with pregestational diabetes have an increased risk for adverse pregnancy outcomes, including a markedly increased risk for birth defects. In this report, a newborn with absent radius associated with pregestational diabetes was presented. A male newborn was born at 40th gestational week from a 20-year-old mother by cesarean section. The patient had shortness in the limbs, hypoplastic right thumb and flexion contracture at his right hand besides respiratory distress.To our knowledge, with this case report, we would like to share the second case of diabetic mother's infant with absent radius in the literature

Evaluation of Fetal Central Nervous System Anomalies; Perinatology Council Data of a Reference Center

INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn't give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99+-6.50 (14-42) years, the mean gestational age was 22.63+-7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones

The effects of priming treatments on germination and seedling growth of red fescue under nickel and cadmium stress

Bu çalışma kırmızı yumakta farklı dozlarda kadmiyum (Cd) ve nikele (Ni) maruz bırakılan tohumlarda farklı priming uygulamalarının çimlenme ve fide gelişimi üzerine etkilerini belirlemek amacıyla laboratuvar koşullarında yürütülmüştür. Araştırmada bu iki ağır metalin farklı konsantrasyonları (0, 75, 150, 300 mg l-1 ) kullanılmıştır. Ağır metal uygulamaları altında priming uygulamalarının çimlenmeye etkisini belirlemek amacıyla % 2’lik KNO3 ve 500 ppm GA3 uyarıcı ajanı olarak kullanılmıştır. Araştırma tesadüf parsellerinde faktöriyel deneme desenine göre 4 tekrarlamalı olarak kurulmuş ve yürütülmüştür. Araştırma sonucunda her iki ağır metalin de kırmızı yumağın çimlenme ve fide özellikleri üzerinde olumsuz etkiye neden olduğu, çimlenme özellikleri üzerine ağır metallerin etkisini azaltmada priming uygulamalarının etkisiz kaldığı, hatta yüksek ağır metal dozlarında çimlenmenin priming uygulamalarından negatif yönde etkilendiği görülmüştür. Kırmızı yumağın kök uzunluğu üzerinde priming uygulamalarının olumlu bir etkisi olmazken, fide gelişimi GA3 uygulaması ile olumlu yönde etkilenmiştir. Ayrıca kırmızı yumağın çimlenme özellikleri ve fide gelişimi üzerinde nikelin olumsuz etkilerinin kadmiyumdan daha yüksek olduğu belirlenmiştir.The objectives of this study were to determine effects of different priming treatments on germination and seedling growth in red fescue infected with different levels (0, 75, 150 and 300 mg l-1 ) of cadmium and nickel. The study was conducted under laboratory conditions. In the study, two heavy metal kinds (Cadmium (Cd) and Nickel (Ni)) were considered 3 different concentrations (75, 150, 300 mg l -1 ) and distillate water as control application. To determine the effect of germination priming under heavy metal stress, 2% KNO3 and 500 ppm GA3 were used as priming agents. The research was performed as factorial arrangement of completely randomized design with four replications. The results of study indicated that both germination and seedling growth properties were negatively affected by both heavy metal kinds. Priming treatments were ineffective in reducing the effects of heavy metals on germination properties. Germination at high doses of heavy metals was negatively affected by priming treatments. There wasn't positively effect on root length of red fescue of priming treatments, while shoot length was positively affected by GA3 treatment. Also, the negatively effects on germination and seedling growth of nickel were greater than cadmium

Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course

Neonatal-onset propionic acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy infant, followed by lethargy, seizures, and can progress to coma if not identified and treated appropriately. It is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. PA is caused by deficiency of propionyl-CoA carboxylase (PCC), the enzyme that catalyzes the conversion of propionyl-CoA to methylmalonyl-CoA. Herein, we report a case of 3-day-old neonate with PA presented with acute renal failure and metabolic acidosis was effectively treated by peritoneal dialysis and conventional methods