The Experience of Undocumented Individuals Denied Stem Cell Transplant for Hematologic Malignancies.

Background: Undocumented individuals with hematologic malignancies in the United States face barriers to receiving often-curative stem cell transplant (SCT), instead receiving inferior treatment with higher mortality. Federal and state policies' impact on undocumented individuals' lived experiences goes unnoticed.

Objective: To understand the experiences of this rare population of undocumented individuals with hematologic malignancies who cannot receive medically indicated SCT.

Elevated Ambient Temperature Associated With Reduced Infectious Disease Test Positivity Rates: Retrospective Observational Analysis of Statewide COVID-19 Testing and Weather Across California Counties.

Background: From medication usage to the time of day, a number of external factors are known to alter human body temperature (BT), even in the absence of underlying pathology. In select cases, clinical guidance already suggests the consideration of clinical and demographic factors when interpreting BT, such as a decreased threshold for fever as age increases. Recent work has indicated factors impacting BT extend to environmental conditions including ambient temperature.

Impacts of zero-fare transit policy on health and social determinants: protocol for a natural experiment study.

Population-level efforts are needed to increase levels of physical activity and healthy eating to reduce and manage chronic diseases such as obesity, cardiovascular disease, and type 2 diabetes. Interventions to increase public transit use may be one promising strategy, particularly for low-income communities or populations of color who are disproportionately burdened by health disparities and transportation barriers. This study employs a natural experiment design to evaluate the impacts of a citywide zero-fare transit policy in Kansas City, Missouri, on ridership and health indicators.

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

Emerging evidence implicates common genetic variation - aggregated into polygenic scores (PGS) - in the onset and phenotypic presentation of rare diseases. Here, we comprehensively map individual polygenic liability for 1102 open-source PGS in a cohort of 3059 probands enrolled in the Genomic Answers for Kids (GA4K) rare disease study, revealing widespread associations between rare disease phenotypes and PGSs for common complex diseases and traits, blood protein levels, and brain and other organ morphological measurements. Using this resource, we demonstrate increased polygenic liability in probands with an inherited candidate disease variant (VUS) compared to unaffected carrier parents.

Mental health in pregnancy complicated by fetal anomaly: depression screening and referrals in a single fetal care center.

To quantify depression screening rates in a fetal care center, identify characteristics associated with screenings and identify mental health referral uptake rates STUDY DESIGN: This retrospective cohort study of 166 patients in a single fetal care center investigated patients screened during pregnancy with the Edinburgh Postnatal Depression Scale RESULTS: Patients screened positive for depression at a rate of 31.9% using 10 as the cut-off score at their first mental health consult following diagnosis. Patients with a prior mental health diagnosis and lacked insurance or had state insurance were more likely to screen positive.

Daily versus Alternate-Day Iron Supplementation for Pregnant Women with Iron Deficiency Anemia: A Randomized Controlled Trial.

Objective:  This study aimed to evaluate the most effective regimen to raise hemoglobin (Hb) by comparing alternate-day dosing of iron to daily dosing in pregnant women with iron deficiency anemia.

Study Design:  Women with Hb < 11.0 g/dL and ferritin ≤ 25 µg/L between 12 and 34 weeks' gestation were recruited.

The effect of carbomer versus noncarbomer lubricant on the adequacy of cervical cytology specimens.

Introduction: Cervical cytology remains a critical screening tool for cervical cancer. While various factors can influence cytology quality, the effect of lubricant type used during specimen collection has been previously studied with inconclusive results. This study aimed to evaluate the impact of surgical lubricant on cervical cytology results and elucidate risk factors associated with unsatisfactory results.

Neonatal Birth Weight With Daily Compared With Every-Other-Day Glucose Monitoring in Gestational Diabetes Mellitus: A Randomized Controlled Trial.

Objective: To assess whether universal use of every-other-day glucose monitoring in patients with gestational diabetes mellitus (GDM) resulted in similar birth weights and medication use and was preferred by the patient compared with traditional daily glucose monitoring.

Methods: This was a noninferiority randomized controlled trial conducted at a single New York City hospital between April 2021 and May 2022. Patients with singleton pregnancies who were diagnosed with GDM after 20 weeks of gestation and had a minimum of 7 days of previous daily blood glucose testing were randomly assigned to test blood glucose values daily or every other day.

Desensitization using pegaspargase in the era of commercially available Erwinia: A single-institution report on efficacy, cost, and resource utilization.

Background: Pegaspargase is a therapeutic enzyme that is utilized in treatment regimens targeting pediatric acute lymphoblastic leukemia. However, many patients experience hypersensitivity reactions, requiring discontinuation of the therapy. Historically, this necessitated switching to an alternative form of the drug, most commonly asparaginase Erwinia chrysanthemi; however, in recent years this was difficult due to drug shortages and eventually commercial discontinuation.

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

Emerging evidence implicates common genetic variation - aggregated into polygenic scores (PGS) - impacting the onset and phenotypic presentation of rare diseases. In this study, we quantified individual polygenic liability for 1,151 previously published PGS in a cohort of 2,374 probands enrolled in the Genomic Answers for Kids (GA4K) rare disease study, revealing widespread associations between rare disease phenotypes and PGSs for common complex diseases and traits, blood protein levels, and brain and other organ morphological measurements. We observed increased polygenic burden in probands with variants of unknown significance (VUS) compared to unaffected carrier parents.

LNK/ as a novel driver in juvenile myelomonocytic leukemia.

Mutations in five canonical Ras pathway genes (NF1, NRAS, KRAS, PTPN11 and CBL) are detected in nearly 90% of patients with juvenile myelomonocytic leukemia (JMML), a frequently fatal malignant neoplasm of early childhood. In this report, we describe seven patients diagnosed with SH2B3-mutated JMML, including five patients who were found to have initiating, loss-of-function mutations in the gene. SH2B3 encodes the adaptor protein LNK, a negative regulator of normal hematopoiesis upstream of the Ras pathway.

Retinal hemorrhage variation in inertial versus contact head injuries.

Background: Abusive head trauma (AHT) is frequently accompanied by dense/extensive retinal hemorrhages to the periphery with or without retinoschisis (complex retinal hemorrhages, cRH). cRH are uncommon without AHT or major trauma.

Objective: The study objectives were to determine whether cRH are associated with inertial vs.

RTI-263, a biased neuropeptide S receptor agonist that retains an anxiolytic effect, attenuates cocaine-seeking behavior in rats.

Neuropeptide S (NPS) is a neuromodulatory peptide that acts via a G protein-coupled receptor. Centrally administered NPS suppresses anxiety-like behaviors in rodents while producing a paradoxical increase in arousal. In addition, NPS increases drug-seeking behavior when administered during cue-induced reinstatement.

Maternal obesity and diabetes during pregnancy and early autism screening score at well-child visits in standard clinical practice.

Early intervention and treatment can help reduce disability in children diagnosed with autism spectrum disorder. Screening for autism spectrum disorder in young children identifies those at increased likelihood of diagnosis who may need further support. Previous research has reported that exposure to maternal obesity and diabetes during pregnancy is associated with higher likelihood of autism spectrum disorder diagnosis in children.

SSSH: Responsive soothing bassinet feasibility study for infants with congenital heart disease after cardiac surgery.

Purpose: For infants with congenital heart disease (CHD) requiring surgery, prolonged hospital stays, intermittent caregiver visitation, and constrained unit staffing ratios present barriers to adequately address post-operative stressors and associated need to retain cognitive and physiological reserves. Similar patients requiring high-engagement interventions, such as hospitalized infants with neonatal abstinence syndrome, have found success in utilizing responsive bassinets to soothe infants and save floor nurses' time. However, it remains unclear if such technology can be leveraged in the CHD population given their complex hemodynamics, feeding intolerance, and monitoring requirements.

Hepatic artery thrombosis and use of anticoagulants and antiplatelet agents in pediatric liver transplantation.

Background: Hepatic artery thrombosis (HAT) is a reported complication of 5%-10% of pediatric liver transplantations, rates 3-4 times that seen in adults. Early HAT (seen within 14 days after transplant) can lead to severe allograft damage and possible urgent re-transplantation. In this report, we present our analysis of HAT in pediatric liver transplant from a national clinical database and examine the association of HAT with anticoagulant or antiplatelet medication administered in the post-operative period.

Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.

Subdural hemorrhages (SDHs) in children are most often observed in abusive head trauma (AHT), a distinct form of traumatic brain injury, but they may occur in other conditions as well, typically with clear signs and symptoms of an alternative diagnosis. We present a case of an infant whose SDH initially raised the question of AHT, but multidisciplinary evaluation identified multiple abnormalities, including rash, macrocephaly, growth failure, and elevated inflammatory markers, which were all atypical for trauma. These, along with significant cerebral atrophy, ventriculomegaly, and an absence of other injuries, raised concerns for a genetic disorder, prompting genetic consultation.

Introduction of Amplitude-Integrated Electroencephalography (aEEG) Monitoring in a Level 2 NICU: Improving the Quality of Care for Neurologically At-Risk Newborns.

Amplitude-integrated electroencephalography (aEEG) is a bedside tool for continuous monitoring of brain activity with the possibility of real-time interpretation. Amplitude-integrated electroencephalography is routinely used in Canadian tertiary NICUs; however, its use in Level 2 NICUs has been limited. A bedside aEEG program was introduced in a Level 2 NICU in order to help facilitate the timely transfer of neurologically compromised infants and keep mother-infant dyads together where reassurance of appropriate neurological status could be attained.