Thrombocytopenia during the First Week of Life among Neonates with Down Syndrome: Data from Multihospital Healthcare Systems

Background: A fault in chromosome distribution during cell division leads to aneuploidy, which can be associated with thrombocytopenia. Various hematological abnormalities have been reported among neonates with Down syndrome (DS). Neutrophilia, thrombocytopenia and polycythemia were the most common hematological abnormalities observed among neonates with Down syndrome. In particular, thrombocytopenia below 150×109/L was found approximately in two-third of DS and 6% of counts below 50,000 was detected during the first week of life.The exact mechanism remains unknown, but is thought to be due to decreased platelet production from chronic fetal hypoxia. fetal hypoxia also leads to intrauterine growth retardation and suboptimal response of thrombopoitin system (TPO) to thrombocytopenia in DS during the neonatal period. Few cases of alloimmune thrombocytopenia with DS due to anti-HPA antibody were reported.Methods: Data from multihospital healthcare systems shows large two case series of infants with cytogenetically confirmed DS and a reference group infants without birth defects all born during the period 2009-2015. During this period, 145,522 live births were recorded at 18 hospitals. Down syndrome was recognized in 226 newborn (1 in 644). Data were analyzed using multivariate logistic regression analysis expressed as adjusted odds ratio (aORs) with 95% confidence intervals (95% CIs).Results & Conclusion: Infants with DS had a significantly higher risk for thrombocytopenia (aOR = 32.4). Platelet counts in DS averaged 104600 per microliter. The mean platelet volume did not correlate with the platelet count, but tended to run slightly large (9.2 +/- 1.3 fl). Persistence of thrombocytopenia beyond 8 to 12 weeks after birth should warrant a hematology consult. Thrombocytopenia can be seen associated with some types of congenital heart defects. Karyotype testing should be done in all obviously dysmorphic infants with thrombocytopenia. It seems reasonable to recommend that one or more CBCs be obtained on all neonates with Down syndrome

Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: Herein, we presented a 20-month-old female with seizure and microcephaly, congenital left kidney dysplasia, hypoparathyroidism, and bilateral sensorineural deafness. Her laboratory tests were consistent with hypoparathyroidism, and the chromosomal study revealed a deletion in chromosome 10. The patient was diagnosed as a case of Barakat syndrome based on her clinical and laboratory tests. The microarray-based comparative genomic hybridization study of the patient was compatible with the monosomy of 10p15.3p13 and trisomy of 12p13.33p13.33.Conclusion: It is important to be aware of rare inherited conditions like Barakat syndrome (HDR syndrome) in a patient with abnormal presentations, such as seizure, neurodevelopmental delay, kidney defects associated with hearing loss, and clinical abnormalities associated with hypoparathyroidism

Effect of Probiotics on Enteral Milk Tolerance and Prevention of Necrotizing Enterocolitis in Preterm Neonates

Background: There is a dearth of studies in Iran on the efficacy of probiotics in reducing necrotizing enterocolitis (NEC), yielding contradictory results. Therefore, the present study aimed to assess the effect of probiotics on milk tolerance and the prevention of NEC in preterm neonates. Methods: This randomized triple-blind clinical trial study was conducted on all preterm neonates between 30 and 36 weeks gestation and birth weight >1250 g hospitalized in the neonatal intensive care unit (NICU) at Bentolhoda Hospital in Bojnurd, Iran. Thereafter, 76 eligible neonates were randomly assigned to two groups of oral placebo (n=38) and BB care probiotic (n=38). Subsequently, the following information was extracted based on the hospital checklist: early or late NEC (after 7 days of birth), types of NEC (grade I, II, and III), length of hospitalization, time to reach complete oral nutrition, weight at discharge, and milk tolerance. Results: In the current study, 52.6% and 47.4% of newborns in control and intervention groups were male, and no significant difference was observed between the two groups (P= 0.646). The incidence of NEC was significantly reduced among the intervention group. The feeding onset in the placebo group was significantly later, as compared to that in the intervention group. A significant difference was detected between the two groups in the length of hospital stay and weight gain during hospitalization. Conclusion: As evidenced by the obtained results, the administration of probiotics in preterm neonates might prevent NEC. Moreover, it can shorten the onset time of feeding and hospitalization duration

Neonatal varicella pneumonia, surfactant replacement therapy

Background: Chickenpox is a very contagious viral disease that caused by varicella-zoster virus, which appears in the first week of life secondary to transplacental transmission of infection from the affected mother. When mother catches the disease five days before and up to two days after the delivery, the chance of varicella in neonate in first week of life is 17%. A generalized papulovesicular lesion is the most common clinical feature. Respiratory involvement may lead to giant cell pneumonia and respiratory failure. The mortality rate is up to 30% in the case of no treatment, often due to pneumonia. Treatment includes hospitalization, isolation and administration of intravenous acyclovir. The aim of this case report is to introduce the exogenous surfactant replacement therapy after intubation and mechanical ventilation for respiratory failure in neonatal chickenpox pneumonia and respiratory distress. Case Presentation: A seven-day-old neonate boy was admitted to the Neonatal Intensive Care Unit at Amirkola Children’s Hospital, Babol, north of Iran, with generalized papulovesicular lesions and respiratory distress. His mother has had a history of Varicella 4 days before delivery. He was isolated and given supportive care, intravenous acyclovir and antibiotics. On the second day, he was intubated and connected to mechanical ventilator due to severe pneumonia and respiratory failure. Because of sever pulmonary involvement evidenced by Chest X-Ray and high ventilators set-up requirement, intratracheal surfactant was administered in two doses separated by 12 hours. He was discharged after 14 days without any complication with good general condition. Conclusion: Exogenous surfactant replacement therapy can be useful as an adjunctive therapy for the treatment of respiratory failure due to neonatal chickenpox