Journal of World Journal of Peri and Neonatology
Volume:6 Issue: 2, Summer-Autumn 2023

Congenital Heart Disease (CHD) is one of the leading causes of infant mortality with some problems in the heart's structure at birth. One of the most common congenital heart diseases is the septal defect, in which there is a hole in the wall (septum). Although the etiology of CHD is mainly unknown, numerous studies have suggested both genetic and environmental factors contribute to the development of this disease. This study aims to investigate the frequency of -964 A>G polymorphism (rs153109) in the IL27 gene in infants with CHD in Yazd province, Iran. The study included 30 infants with CHD. We genotyped the IL27 polymorphism by using the PCR- Sequencing technique. Data revealed that the frequencies of AA, AG, and GG among the population of Yazd province were 40%, 40%, and 20%, respectively. The frequency of A and G alleles were 60% and 40%, respectively. The higher frequency of the A allele in patients with CHD compared to the G allele suggests that the A allele may increase atrial septal defect and ventricular septal defect susceptibility in Yazd province. It is recommended that the presence of the A allele and AG genotype be used as a predictor for the development of septal defects.

Neonatal respiratory distress syndrome (RDS) is a common and urgent condition in newborns, caused by a lack of surfactant production and secretion. This study aimed to compare two non-invasive methods, nasal continuous positive airway pressure (nCPAP) and high-flow nasal cannula (HFNC), for managing RDS. The study was conducted in the Neonatal Intensive Care Unit (NICU) of Shahid Sadoughi Hospital between 2020 and 2021 and included 49 premature neonates (with gestation ≤34 weeks and birth weight ≤2,000 g) diagnosed with RDS. The neonates were randomly assigned to either the HFNC group (n = 24) or the nCPAP group (n = 25). No significant differences in demographic features were observed between the two groups. The HFNC group had lower rates of intubation, shorter hospitalization duration, and less need for full nutritional support and oxygen therapy compared to the nCPAP group, but these differences were not statistically significant. Additionally, there were no significant differences in complications such as traumatic nasal injury, apnea, necrotizing enterocolitis (NEC), bronchopulmonary dysplasia (BPD), pneumothorax, pulmonary hemorrhage, and mortality between the two groups. The results of this study suggest that both HFNC and nCPAP are equally effective in treating premature neonates with RDS, with no significant differences in clinical outcomes. Given the cost-effectiveness of HFNC, medical staff expertise, and equipment accessibility, this approach could be considered a viable alternative to nCPAP.

Maternal factors like age, existing medical conditions, and exposure to medications/substances during pregnancy are crucial in the development of congenital anomalies. This study aims to investigate maternal risk factors associated with congenital anomalies in newborns in Yazd from 2018 to 2021. This particular research entails a cross-sectional descriptive analysis where the data concerning all live births and their respective mothers from the years 2018 to 2021 in the hospitals situated in Yazd were culled from the database of the National Mother and Newborn Health Registration System affiliated with Shahid Sadoughi University of Medical Sciences. Over four years, approximately 122,098 mothers' information was recorded in the mother's information registration system. The outcomes about social factors indicated that 1.3% of mothers with limited educational background and 0.62% of educated mothers had newborns with abnormal conditions. The heightened occurrence of newborns with congenital anomalies among mothers with lower educational attainment in comparison to their educated counterparts was deemed statistically significant (P < 0.001). Moreover, mothers under the age of 19 exhibited a 1.2% frequency of abnormalities, a rate significantly surpassing that of other age brackets. The discernment that very young mothers and those with limited education exhibit a higher frequency of abnormalities underscores the necessity for enhanced medical attention and awareness within these specific demographic segments. Nevertheless, further comprehensive inquiries regarding risk factors among mothers and high-risk cohorts are imperative.

Congenital heart defects (CHDs) are among the most prevalent congenital defects observed in neonates, leading to structural and functional abnormalities in the heart. This research examines the prevalence of CHDs and its various subcategories among neonates admitted at Shahid Sadoughi Hospital in Yazd, Iran, from 2022 to 2023. The study also aims to assess the presence of risk factors among infants diagnosed with CHDs. This is a descriptive cross-sectional study, encompassing all neonates diagnosed with CHDs. Echocardiography was conducted to classify the specific type of CHDs, and a questionnaire was administered to the parents of neonates with CHDs to identify potential risk factors. Out of 1149 newborns admitted to the hospital in one year, 29 (2.52%) were diagnosed with CHDs, and 9 of them died from the condition. The prevalence of CHDs and the mortality rate were 2.5% and 0.78%, respectively. The most common defect was atrial septal defect (ASD), affecting 19 newborns (65.5% of cases), and 15 newborns exhibited multiple defects within the subtypes of CHDs. Our research reveals that the incidence of CHDs among newborns in our area was 2.52%, with a mortality rate of 0.78% within a one-year timeframe. More than half of CHD cases were found in offspring of consanguineous unions, suggesting a potential risk factor within the Yazd community, likely linked to the prevalent custom of consanguineous marriages in the region.

Seizures are a common presenting manifestation in children with amino acid metabolism disorders such as maple syrup urine disease (MSUD), nonketotic hyperglycinemia, sulfite oxidase deficiency, serine deficiency, and GABA-related disorders. In monoamine biosynthesis disorders, seizures are rare, but paroxysmal dystonia is often misdiagnosed as seizures. Metabolic changes, including amino acid turnover, have been noted during epileptogenesis and chronic epilepsy. Autophagy, a catabolic pathway crucial for maintaining tissue and organism homeostasis, is influenced by amino acids and plays a role in brain physiology and pathology, including epileptic disorders. Amino acid synthesis defects can cause neurological symptoms such as early-onset seizures, mental disability, and skin disorders. Besides neurological symptoms, amino acid metabolism disorders can impact other organ systems, resulting in various clinical manifestations. Early recognition and proper management of these disorders are vital for preventing long-term complications and enhancing patient outcomes. Ongoing research into the complex relationship between amino acid metabolism and neurological function may offer new insights into the pathogenesis of seizures and other neurological disorders.

Neonatal diabetes mellitus (NDM) is a severe type of glucose metabolism disorder that appears in the first months of life and mostly presents with symptoms such as dehydration, inability to gain weight, and in extreme cases, ketoacidosis and coma. Strong evidence shows the benefits of early molecular tests that investigate variability in kATP channels such as KCNJ11, ABCC8, INS gene mutations, and 6q24 abnormalities. In the presence of these genomics changes, switching from Insulin treatment toward high-dose oral sulfonylurea can enhance the course of treatment, prognosis, and quality of life.

Case Report: 

In this study, we report four cases of neonatal diabetes with different symptoms who were referred to Shahid Sadoughi Medical Center in Yazd, Iran.

The diagnosis and treatment of NDM is a good model for implementing patient-centered and personalized medicine. For all patients with diabetes diagnosed before the 6th month of their age (even the 12th month), genetic testing should be considered.

Pyruvate carboxylase catalyzes the carboxylation of pyruvate to oxaloacetate, a crucial intermediate of the tricarboxylic acid (TCA) cycle and the initial step in converting pyruvate to glucose (gluconeogenesis). Pyruvate carboxylase deficiency is a rare metabolic disorder characterized by lactic acidosis, failure to thrive, development delay, and recurrent seizures at an early age in severely affected patients. The onset and severity of pyruvate carboxylase deficiency have been classified as severe neonatal (type B), usually fatal, less severe infantile (type A), compatible with survival but with impaired neurologic development, and milder, later onset (type C) with some residual impairment. Clinical manifestations include hypotonia, mixed hypertonia, ataxia, choreoathetosis, microcephaly, and other signs of impaired white matter development.

Case Report: 

A 7-day-old baby with a birth weight of 3kg, born to related parents, presented with clinical symptoms such as lethargy, poor feeding, and grunting since birth. Additionally, he experienced a drop in O2 saturation and cyanosis during his hospitalization. Test results revealed lactic acidosis and hyperammonemia. Furthermore, serum amino acids chromatography- HPLC indicated an increase in lysine and citrulline. The patient succumbed after 16 days due to multi-organ damage. Genetic analysis identified pyruvate carboxylase enzyme deficiency.

Pyruvate carboxylase deficiency is a rare inborn error of metabolism that can lead to developmental delay and failure to thrive, typically beginning in the neonatal or early infantile period. The possibility of pyruvate carboxylase deficiency should be considered in any child presenting with lactic acidosis and neurological abnormalities, particularly if associated with hypoglycemia, hyperammonemia, or ketosis.