Journal of World Journal of Peri and Neonatology
Volume:6 Issue: 1, Winter-Spring 2023

Quantitative fluorescent Polymerase Chain Reaction (QF-PCR) has been widely used by laboratories as a rapid, low-cost, and convenient test compared to conventional karyotyping for detecting the most common aneuploidies for prenatal diagnosis. Although the latter has been considered the gold standard for detection, the debate to use QF-PCR or both methods together continues. We screened the results of QF-PCR and karyotyping to compare their detection rate for the most common aneuploidies. In addition, we aimed to investigate the most informative markers in the Iranian population for aneuploidies.  We screened 741 pregnant women’s amniotic fluid samples with nuchal translucency (NT) ≥2.5 for two years, during which QF-PCR and karyotyping were performed to compare the results. Also, we did a statistical assessment of samples for heterozygosity of 25 short tandem repeats (STR) markers in the Iranian population, which can be applied to find the most informative markers based on the population for each chromosome analyzed in the QF-PCR test. The QF-PCR results were 99.8, consistent with the results of cytogenetic analysis, and just one case could not be detected with QF-PCR due to mosaicism.  Among the evaluated markers in this study, D13S258, D18S51, and D21S1411 had the highest frequency of heterozygosity. QF-PCR could be used as a stand-alone test to reduce the workload and time-consuming of karyotyping, but using both of them could lead us to the most reliable results.

Respiratory distress syndrome (RDS) is a type of lung development defect that is commonly seen in preterm births. Deficiency of pulmonary surfactant due to immaturity is the principal cause of RDS in premature infants. This study was conducted with the aim of Iranian surfactant (Beraksurf)’s effect in treating RDS in premature neonates. In this study, all infants who were premature and had RDS were included in the study. Also, the infants were examined based on primary and secondary outcomes. Primary outcomes include the duration of need for nasal continuous positive airway pressure (NCPAP), number of surfactant administration, and secondary outcomes including bronchopulmonary dysplasia (BPD), pneumothorax, and pulmonary hemorrhage. A total of 162 neonates with a mean gestational age of 31.28 ± 2.58 weeks were evaluated. The 120 people (74.1%) used medicine only on the first day, 19 people on other days, and 23 people on the first and second day. Also, 141 children (87.6%) were discharged from the hospital and unfortunately, 20 children (12.4%) died. The prevalence of pneumothorax, BPD, and pulmonary hemorrhage was 1.8%, 1.2%, and 1.2% respectively. Also, 69.7% needed less than five days of mechanical ventilation and 30.2% needed more than 5 days of mechanical ventilation. Considering getting better treatment results from taking Beraksurf, as well as fewer side effects and the fact that this drug is Iranian, and due to its easier access and cheaper price, we can pay more attention to the prescription of this drug.

Congenital anomalies are responsible for a remarkable proportion of disability and mortality in newborns. Therefore, the aim of this study is to investigate the incidence and types of congenital anomalies in newborns born in Yazd hospitals during the years 2016 to 2021. In this cross-sectional descriptive study, the data of all live births from 2016 to 2021 in hospitals of Yazd were extracted from the database of the National Mother and Newborn Health Registration System of Shahid Sadoughi University of Medical Sciences. From a total of 151,566 live births during six years, congenital anomalies were seen in 1338 (0.88%) newborns. The most common congenital anomalies involved the cardiovascular system (0.31%), followed by musculoskeletal anomalies (0.16%), gastrointestinal tract (0.14%), and genital system (0.1%), respectively. The incidence increased from 0.63% in 2016 to 1.05% in 2021, with the highest incidence observed in 2020 (1.31%). The incidence of congenital anomalies in Yazd is lower than in most studies in Iran. However, shows an increasing trend over the years which can be due to the improvement of diagnostic methods especially in the case of congenital heart anomalies. However, more extensive studies on maternal risk factors and neonatal outcomes are needed.

The adverse outcomes correlated with GDM for both the mother and the offspring are diverse. The link between polymorphisms at fat mass and obesity‐correlated protein (FTO), leptin (LEP), and leptin receptor (LEPR) genes and GDM is ambiguous. In this meta-analysis, we sought to investigate the correlation of FTO, LEP, and LEPR polymorphisms with GDM risk. We performed an online search on PubMed, Web of Science, and Google Scholar databases to identify all relevant research. A total of 18 case-control studies including seven research with 893 cases and 2875 controls on FTO rs9939609, four research with 1345 cases and 1116 controls on FTO rs8050136, two research with 207 cases and 205 controls on FTO rs1421085, three studies with 529 cases and 581 controls on LEP rs7799039, and two research with 480 cases and 477 controls on LPER rs1137101 met our criteria. Combined data illustrated that the FTO rs9939609 and rs8050136 were correlated with substantial risk of GDM in the overall population, but not FTO rs1421085. Furthermore, LEP rs2167270 and rs7799039 polymorphisms were not correlated with GDM risk. Sorted analyses illustrated that the FTO rs9939609 polymorphism was correlated with GDM in Caucasian women. This meta-analysis results illustrated that the FTO rs9939609 and rs8050136 were correlated with substantial risk of GDM, but not FTO rs1421085, LEP rs7799039, and LPER rs1137101. Larger and more rigorous studies among different ethnicities are needed to further evaluate the correlations with GDM.

During the COVID-19 epidemic, many neonates were involved, but they had fewer complications and deaths than adults. Therefore, in this review study, we investigated the immune mechanisms of neonates in response to COVID-19.

We reviewed articles that evaluated the immune system, COVID-19, or SARS-COV2 in neonates. We searched the databases of Google Scholar, PubMed, Scopus, Web of Sciences, SciELO, and CNKI databases published up to December 2022.

There are different immune mechanisms in response to COVID-19 in infants, which lead to a different response to COVID-19 compared to adults. The important mechanisms include lower expression of ACE2 receptor, abundant of naive T cells, absence of cytokine storm, abundant of immunosuppressive cells, less inflammatory reactions, breastmilk secretory IgA, transfer of IgG through the placenta, and absence of chronic comorbidities. Also, in comparison with pediatrics multisystem inflammatory syndrome in children (MIS‐C) doesn’t observe in neonates.

The exact immune mechanisms in response to COVID-19 in infants have not yet been discovered, but knowing the exact mechanisms can be effective in future treatments, the production of effective vaccines, and other viral treatments, so there is a need for more investigations in this field.

Neonatal jaundice is a common clinical problem caused by the deposition of bilirubin in the tissue. Natural products have long been used to treat jaundice, and Iranian medicine can be a good source of natural treatments for this purpose. In this study, we investigate the mechanism of the effect of Cotoneaster, an Iranian herbal medicine, in the treatment of jaundice in neonates.

We investigated every article that evaluated Purgative manna, Cotoneaster manna, or Cotoneaster in the treatment of neonatal jaundice. We searched the databases of PubMed, Scopus, Web of Sciences, SciELO, CNKI, and Google Scholar for English articles, and a search was also done in Persian in Magiran and Scientific Information Database (SID) published until August 2023.

The exact mechanism of Cotoneaster in reducing jaundice is not known, but the following mechanisms have been suggested .The most common mechanisms include increased urination, increased bile excretion from the liver, and increased defecation, as well as neutralizing the effects of oxidative agents and free radicals.

 Considering that most studies have stated that Cotoneaster combined with phototherapy is effective in treating jaundice and herbal medicines alone cannot treat jaundice. Therefore, identifying the mechanism of Cotoneaster in reducing jaundice can lead to the creation of methods to strengthen its effect. More detailed biochemical and pharmacological studies are needed to understand the mechanism of action of Cotoneaster in reducing neonatal jaundice.

Gaucher disease is the most common lysosomal storage disease. Defective activity of the acid β-glucosidose which is encoded by the GBA1 gene, leads to the accumulation of excess amounts of the glucosyl ceramide lipid. Gaucher disease is clinically classified into three variants based on the relative degree and progression of neurological involvement. Gaucher disease type 1 manifests markedly variable phenotypes ranging from asymptomatic individuals to children who have massive hepatosplenomegaly, pancytopenia, and severe skeletal abnormalities.

Case Report: 

We report a case series of four patients with Gaucher disease type 1 with variable clinical manifestations treated with enzyme replacement therapy (ERT). In follow-up, three patients showed visceral and hematological improvements, while one case did not respond to ERT and died due to liver failure.

Gaucher disease should be considered with differential diagnosis of patients with unexplained organomegaly, who bruise easily and have bone pain which can be treated with ERT.

Down syndrome and β-thalassemia are commonly prevalent genetic diseases worldwide. Predominantly, an extra copy of chromosome 21 or trisomy 21 predominantly causes Down syndrome (the most common genetic etiology of moderate intellectual disability). Down syndrome is associated with congenital anomalies and characteristic features. β-thalassemia major or transfusion- dependent Thalassemia refers to a severe expression of the disorder that requires early transfusion therapy.

Case Report: 

Here, we reported a male Down syndrome patient with a 47, xy, +21 karyotype who was diagnosed with β-thalassemia major at 6 months and treated with repeated transfusions every 20 days due to anemia.

The association between Down syndrome and major β-thalassemia is rare. The severity of the presentation of the child may be explained by the coincidence of these diseases.