Does Early Neonatal Thrombocytopenia Affect Ductal Therapeutic Respose to Acetaminophen in Preterm Neonates?

Perinatal thrombocytopenia has been shown to affect responsiveness to therapeutic ductal closure with cyclo-oxygenase inhibitors. This has not been studied in responsiveness to acetaminophen, which has less effect on platelet function. Objective: To evaluate whether thrombocytopenia affects ductal responsiveness to acetaminophen. Study Design: Retrospective review of preterm neonates <1500 gm. Echocardiograms were performed within the first week of life; if ductal status was found to be hemodynamically significant, infants were treated with acetaminophen. Results: We studied 254 infants. Fifty seven of these (22%) had a hemodynamically significant PDA (hsPDA) and were treated with acetaminophen. Forty (70%) of those treated responded with ductal closure after 1-2 courses of acetaminophen. Seventeen infants were considered non-responsive, requiring the addition of ibuprofen and/or surgical ligation. Sixty-seven of the 254 infants (26%) developed moderate thrombocytopenia [platelets <100,000] within the first ten days of life, more within the hsPDA group (54% vs. 18% p<0.001); however, no differences in platelet related parameters were observed when comparing infants with hsPDA who did or did not respond to acetaminophen treatment. Twenty-six of the 67 thrombocytopenic were already thrombocytopenic prior to acetaminophen treatment; and 19 of these 26 (73%) with pre-treatment thrombocytopenia responded to acetaminophen treatment – similar to the overall response rate of 70% . Conclusions: This study is the first to document that, in contrast to the cyclo-oxygenase inhibitors, there is no association between early neonatal thrombocytopenia and ductal therapeutic responsiveness to acetaminophen.

Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia

Here, we report about a preterm female newborn with a prolonged course of severe thrombocytopenia and hematomas. The family history was positive for von Willebrand disease type 2B (VWD 2B). Diagnosis of VWD 2B was identified analyzing von Willebrand factor (VWF) parameters (VWF:antigen, VWF:activity, VWF multimer analyses) and performing light transmission aggregometry (with half concentration of ristocetin). In addition, the diagnosis was confirmed by molecular genetic analysis: identification of a disease-causing missense mutation (Val1316Met) in the VWF gene associated with a severe course of VWD 2B, which had been previously reported. Treatment with a VWF-containing plasma concentrate was initiated. Because the combination of prematurity and very low platelet count is often associated with intracranial bleeding, at the beginning platelet concentrates were transfused. Fortunately, the patient did not develop serious bleeding episodes. Interestingly, the patient had a mutation in the VWF gene, which had been described to be associated with aggravation of thrombocytopenia especially in stressful situations. Therefore, we replaced venous blood withdrawals by capillary blood samplings when possible and, consequently, we observed an increase of the platelet count after this change in management. At the age of 2 months, the patient was discharged after stabilization of the platelet count without any bleeding signs and without a need of long-term medication.

Frequency of Thrombocytopenia in Neonatal Sepsis

Objective: To determine the frequency of neonatal thrombocytopenia among patients presented with sepsis at tertiary care Hospital. Methodology: This cross-sectional study was conducted at the Department of pediatrics SKBZ/CMH Muzaffarabad, during six months from September 2018 to March 2019. All the diagnosed septic neonates, age < 28 days and either gender were included. Their basic demographic data like age and gender, along with their contact details were taken. The sample of blood was sent in blood culture bottles to hospital laboratory to confirm bacterial growth, that was diagnosed as sepsis. Blood sample was sent to the hospital also to diagnose thrombocytopenia. Reports were consulted by the pathologist. All the data were collected by a structured study proforma. All data were entered and analyzed with the help of SPSS version 22. Results: The mean age of patients was 8.92 ± 5.40 days with minimum and maximum age as 1 and 27 days. There were 117(47.56%) males and 129(52.44%) female cases. A total of 40(16.26%) cases had their maternal hypertension, 54(21.95%) neonates had gram + and 157(63.82%) neonates had Gram negative. A total of 63(25.61%) cases had thrombocytopenia while 183(74.39%) neonates were seen without thrombocytopenia. The frequency of thrombocytopenia was statistically insignificant according to gender and types of culture (p->0.05). Conclusion: It is concluded that frequency of thrombocytopenia in neonatal sepsis was found in a quarter of the cases. In neonatal sepsis, thrombocytopenia must be ruled out at patient’s presentation and must be treated as early as possible as thrombocytopenia is an independent risk factor for sepsis-associated mortality. Keywords: Incidence, thrombocytopenia, neonatal sepsis

Prevalence of Thrombocytopenia in Neonates Born to Mothers with Pregnancy Induced Hypertension

Background: Pregnant women with hypertension are at high risk to deliver a newborn with severe thrombocytopenia. Little is known concerning the magnitude of thrombocytopenia in neonates born to mothers with PIH and controversy was also present. Objective: To determine the frequency of thrombocytopenia in neonates born to mothers with pregnancy induced hypertension. Material & Methods: This cross sectional study was carried out at department of Neonatology, Lady Aitcheson Hospital, Lahore for 6 months. A sample of 1ml from cord blood was taken and sent to hematology laboratory. Neonatal thrombocytopenia was labeled. All the data was entered and analyzed on SPSS version 16. Results: The mean age of babies was 13.31±7.07 days. The male to female ratio was 1.1:1. The mean platelet count of the babies was 150.23±29.39. Thrombocytopenia was present in 41.50% babies. Conclusion: Prevalence of thrombocytopenia was 41.5% in females with PIH. Keywords: Thrombocytopenia, Pregnancy Induced Hypertension, Mothers, Neonates, Neonatal Intensive care unit

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and some of her relatives) presented with moderate thrombocytopenia and adulthood-onset HL. The child’s father (and some of his relatives) presented with adult-onset HL. An HL panel analysis, completed by whole exome sequencing, was performed in this complex family. We identified three pathogenic variants in three different genes: MYH9, MYO7A and ACTG1. The thrombocytopenia in the child and her mother is explained by the MYH9 variant. The post-lingual HL in the paternal branch is explained by the MYO7A variant, absent in the proband, while the congenital HL of the child is explained by a de novo ACTG1 variant. This family, in which HL segregates, illustrates that multiple genetic conditions coexist in individuals and make patient care more complex than expected.