Impact of hyponatremia in preeclamptic patients with severe features.

Hyponatremia, though common in women with preeclampsia, has not been well studied. Our primary objectives are to assess the clinical characteristics and emergency therapy applied to subjects diagnosed with preeclampsia. We hypothesize that hyponatremia present in preeclamptic patients with severe features is associated with greater use of emergency hypertensives, antenatal steroids, and cesarean delivery. This is a retrospective descriptive study utilizing an electronic health record database (TriNetX ®). We collected and evaluated the following data of subjects aged 15 to 54 years with preeclampsia with severe features diagnosis: demographics, diagnostic codes, medication codes, procedure codes, deaths, and laboratory results. A total of 2,901 subjects [215 (7.4%)] with a sodium level below 134 mEq/L and [2686 (92.6%)] with a sodium level above 135 mEq/L were included. A higher proportion of subjects in the below 134 sodium group received emergency antihypertensives [165 (76.7%) versus 1811 (67.4%), p = 0.01], antenatal steroids [103 (47.9%) versus 953 (35.5%), p = 0.001], and cesarean section [27 (12.6%) versus 97 (3.6%), p = <0.001]. We found that hyponatremia may be associated with emergency antihypertensive use, antenatal steroid use, and cesarean section in patients with preeclampsia with severe features. Future research is needed to determine if routine sodium levels assessed in preeclamptic subjects with severe features identify subjects at risk of receiving these treatments.

Hydrophilic But Not Hydrophobic Surfactant Protein Genetic Variants Are Associated With Severe Acute Respiratory Syncytial Virus Infection in Children.

Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infection-related hospitalization in the first year of life. Surfactant dysfunction is central to pathophysiologic mechanisms of various pulmonary diseases including RSV. We hypothesized that RSV severity is associated with single nucleotide polymorphisms (SNPs) of surfactant proteins (SPs). We prospectively enrolled 405 RSV-positive children and divided them into moderate and severe RSV disease. DNA was extracted and genotyped for sixteen specific SP gene SNPs. SP-A1 and A2 haplotypes were assigned. The association of RSV severity with SP gene SNPs was investigated by multivariate logistic regression. A likelihood ratio test was used to test the goodness of fit between two models (one with clinical and demographic data alone and another that included genetic variants). p ≤ 0.05 denotes statistical significance. A molecular dynamics simulation was done to determine the impact of the SFTPA2 rs1965708 on the SP-A behavior under various conditions. Infants with severe disease were more likely to be younger, of lower weight, and exposed to household pets and smoking, as well as having co-infection on admission. A decreased risk of severe RSV was associated with the rs17886395_C of the SFTPA2 and rs2243639_A of the SFTPD, whereas an increased risk was associated with the rs1059047_C of the SFTPA1. RSV severity was not associated with SNPs of SFTPB and SFTPC. An increased risk of severe RSV was associated with the 1A0 genotype of SFTPA2 in its homozygous or heterozygous form with 1A3. A molecular dynamic simulation study of SP-A variants that differ in amino acid 223, an important amino acid change (Q223K) between 1A0 and 1A3, showed no major impact on the behavior of these two variants except for higher thermodynamic stability of the K223 variant. The likelihood ratio test showed that the model with multi-allelic variants along with clinical and demographic data was a better fit to predict RSV severity. In summary, RSV severity was associated with hydrophilic (but not with hydrophobic) SPs gene variants. Collectively, our findings show that SP gene variants may play a key role in RSV infection and have a potential role in prognostication.

Frequency and Results of Pregnancy Screening in Critically Ill Adolescents in Multiple Health Care Organizations.

PURPOSE: Adolescent females may undergo pregnancy screening while receiving critical care services, but the frequency and results are unknown. The objectives of this study are to evaluate patient characteristics, pregnancy screening frequency, and rate of positive pregnancy screens in adolescent females of childbearing age who require critical care services. We hypothesize that when adolescent pregnancy screening is performed in the critical care setting, it occurs in a higher frequency in older subjects. METHODS: This is a multicenter retrospective observational cohort study utilizing TriNetX, an electronic health record database. The following electronic health record data were collected and evaluated in adolescent females aged 12-18 years and billed for critical care services: age, race, ethnicity, diagnostic codes, selected radiology and surgical procedure codes, number of deaths, pregnancy screening laboratory codes, and pregnancy screening results. RESULTS: A total of 5,241 subjects (2,242 [42.8%] subjects for whom pregnancy screen was noted and 2,999 [57.2%] subjects for whom it was not noted) were included in this study. Subjects aged 15-18 years (odds ratio = 1.56, 95% confidence interval = 1.38-1.77, p value < .0001) and had Hispanic or Latina ethnicity (odds ratio = 1.46, 95% confidence interval = 1.28-1.66, p value < .0001) had a higher association with pregnancy screening. A positive pregnancy screen was identified in 18 (0.8%) subjects. DISCUSSION: In our study, positive pregnancy screens were infrequent, not all subjects were screened, and there was an association between pregnancy screening and ethnicity. Because of the potential for screening bias, this study suggests that clinicians should strongly consider routine pregnancy screening for all females of childbearing age and that hospital policies should require this type of screening.

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

Genetic conditions are increasingly recognised as a cause of multisystem diseases in children. We report a 6-year-old boy with hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and lymphoedema, associated with a novel mutation in the NF-κß essential modulator (NEMO) gene. He is the longest surviving of three reported boys with these clinical features. Hypohidrotic ectodermal dysplasia, a congenital disorder of teeth, hair and eccrine sweat glands is most commonly inherited as an X-linked recessive trait. Associated immunodeficiency (HED-ID) may give rise to serious infections in early life. Mutations in the NEMO gene give rise to a heterogeneous group of disorders, including the X-linked dominant disorder incontinentia pigmenti. This is characterised by typical skin changes leading to linear pigmentary change and variable associated features; in males, prenatal death usually occurs. Our patient, like one if the previous cases and all of their mothers, demonstrates features of incontinentia pigmenti.