Prenatal Diagnosis in Organic Acidemia

Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS) or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS) at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells).Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS) at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD) may be available for families in which the disease causing mutation has been identified

Investigating Carotid Intima Media Thickness in Children with Type 1 Diabetes and Its Relationship with HbA1c, Cholesterol, Duration of Disease and BMI: A Cross-Sectional Study

Background: internal carotid intima thickness has been identified as a predictor of atherosclerosis. Patients with type 1 diabetes are at risk for macrovascular complications. Atherosclerosis is 2 to 4 times more common in patients with diabetes, which exposes them to mortality and morbidity. The aim of this study was to determine the thickness of internal carotid intima thickness in children and adolescents with type 1 diabetes and its relationship with cardiovascular risk factors in Iranian children and adolescents with type 1 diabetes. Method: The present study is a cross-sectional study that was performed in Mofid and Imam Hossein hospitals in Tehran from 2020 to 2021. A total of 91 patients with type 1 diabetes in the age range of 6-18 years, who have been diagnosed with diabetes for at least three years, were included in the study as a diabetic group. Result: In total, 91 children and adolescents with type 1 diabetes were included in this study, of which 44 (48.4%) were boys and 47 (51.6%) were girls. The mean age of patients was 12.24 ± 3.17 and ranged from 6 to 18 years. The mean age of the patients at the time of diagnosis was 5.86 ± 2.98. In this study, blood pressure of 6 patients (6.6%) was abnormal and the rest had normal blood pressure. In addition, the mean duration of disease in this study was 6.3 ± 2.57 years. The insulin of most patients (93.2%) was Analogue and only 8.8% of patients used Neutral Protamine Hagedorn (NPH) and Regular. The thickness of the intima of the right internal carotid artery is 0.54 ± 0.05 and the thickness of the intima of the left internal carotid artery is 0.48 ± 0.07. Conclusion: According to the results of this study, none of the factors of disease duration, age of onset, blood pressure, cholesterol, triglycerides, LDL (Low-Density Lipoprotein), HDL (High-Density Lipoprotein), HbA1C (Hemoglobin A1c), history of CHD (Coronary Heart Disease) and hyperlipidemia were significantly associated with the thickness of the intima of internal carotid artery. However, body mass index showed a significant relationship with the thickness of the left internal carotid intima

Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report

Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There is no statistical significant difference in prevalence between males and females. We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation. In neck sonography, we found asymmetry of sternocleidomastoid muscles. In conclusion, we describe torticollis as a presentation of Russell-Silver syndrome

Comparison of Maternal Serum and Umbilical Cord Blood Leptin Level in IUGR Neonates

Background: Gestational weight gain is an impressive factor in the fetal outcome. Intrauterine growth restriction (IUGR) is one of the most important problems during fetal period that may lead to many perinatal and long-term complications and growing neonatal morbidities and mortalities. The aim of the study was to ascertain the relationship between umbilical cord blood leptin concentration and fetal growth in neonates born with intrauterine growth restriction. Methods: Maternal serum and umbilical cord blood leptin concentration were measured by immune radiometric assay at term gestation. The study was conducted on 22 women with uncomplicated singleton pregnancies as control group (group A) and 22 women with fetal growth restriction in singleton pregnancies as case group (group B). All subjects had normal pregravid body mass index (BMI). Results: The results of the study showed that maternal serum leptin concentrations were significantly higher in group B comparing to group A (44ng/ml [28.9-58.2] vs. 24.6ng/ml [18.8-33.3];

Comparison of Vitamin D Level in Preterm and Term Infant–Mother Pairs: A Brief Study

Background: Recent studies have demonstrated the high prevalence of vitamin D deficiency in the general population. Pregnancy and preterm delivery are known as risk factors for vitamin D deficiency. Consequently, vitamin D level in women with preterm deliveries might vary from those with term pregnancies. In this study, we aimed to compare vitamin D level in term and preterm infant–mother pairs. Methods: This cross-sectional study was conducted in the neonatal intensive care unit of Mahdieh Hospital in Tehran, Iran in 2013. Serum level of 25-hydroxy vitamin D in preterm infant-mother pairs (≤ 32 weeks of gestation and birth weight ≤ 1500 g) was compared with term infant-mother pairs within the first 24 hours after delivery. Results: In total, 62 infant-mother pairs were recruited in this study, including 33 preterm (53.2%) and 29 term (46.8%) newborns; overall, 32 (51.6%) infants were male. the mean maternal age was 27.3 years in the preterm group and 26.4 years in the term group. The mean serum vitamin D level in preterm infants was 13.91 ng/ml. In the preterm group, vitamin D level was within the range of 4-59 ng/ml in newborns and 8-62 ng/ml in mothers. In the term group, the mean vitamin D level was 13.39 in infants and 13.7 ng/ml in mothers. In total, 48.5% and 65.5% of preterm and term groups had vitamin D deficiency, respectively. Among all newborns, 56% had vitamin D deficiency, although the difference between term and preterm neonates was not statistically significant. Also, there was no significant correlation between the infants’ serum vitamin D level and birth weight. Based on the findings, serum vitamin D levels in mothers and newborns were significantly correlated (