Direct-Breastfeeding in the Neonatal Intensive Care Unit and Breastfeeding Duration for Premature Infants

Aim To explore the relationship between direct-breastfeeding in the neonatal intensive care unit (NICU) and breastfeeding duration after discharge. Background Initiating and maintaining breastmilk feeding is an important goal that begins in the NICU. Little is known about direct-breastfeeding in the NICU and its relation to breastfeeding duration. Methods Chart review of 46 infants (\u3c 32 weeks gestational age or \u3c 1500 grams) whose mothers provided breastmilk. Results One month after discharge, mothers still providing breastmilk were more likely to have provided ≥ 1 direct-breastfeed per day in the NICU (21.16, CI: 3.13–143.25, p \u3c 0.01) and had prior breastfeeding experience (OR: 9.16, CI: 1.02–82.34, p \u3c 0.05). At 4 months, mothers still providing breastmilk were more likely to have provided ≥ 1 direct-breastfeed per day in the NICU (OR: 12.80, CI: 1.39–118.32, p \u3c 0.05). Conclusions Direct-breastfeeding in the NICU may play an essential role in preparing mothers for breastfeeding after discharge, thus potentially impacting breastfeeding duration

Invasive Haemophilus influenzae Disease in Adults ≥65 Years, United States, 2011.

BackgroundSince the introduction of the Haemophilus influenzae serotype b vaccine, H influenzae epidemiology has shifted. In the United States, the largest burden of disease is now in adults aged ≥65 years. However, few data exist on risk factors for disease severity and outcome in this age group.MethodsA retrospective case-series review of invasive H influenzae infections in patients aged ≥65 years was conducted for hospitalized cases reported to Active Bacterial Core surveillance in 2011.ResultsThere were 299 hospitalized cases included in the analysis. The majority of cases were caused by nontypeable H influenzae, and the overall case fatality ratio (CFR) was 19.5%. Three or more underlying conditions were present in 63% of cases; 94% of cases had at least 1. Patients with chronic heart conditions (congestive heart failure, coronary artery disease, and/or atrial fibrillation) (odds ratio [OR], 3.27; 95% confidence interval [CI], 1.65-6.46), patients from private residences (OR, 8.75; 95% CI, 2.13-35.95), and patients who were not resuscitate status (OR, 2.72; 95% CI, 1.31-5.66) were more likely to be admitted to the intensive care unit (ICU). Intensive care unit admission (OR, 3.75; 95% CI, 1.71-8.22) and do not resuscitate status (OR, 12.94; 95% CI, 4.84-34.55) were significantly associated with death.ConclusionsWithin this age group, burden of disease and CFR both increased significantly as age increased. Using ICU admission as a proxy for disease severity, our findings suggest several conditions increased risk of disease severity and patients with severe disease were more likely to die. Further research is needed to determine the most effective approach to prevent H influenzae disease and mortality in older adults

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery. This program employs specific case ascertainment parameters, a WES/WGS computational analysis pipeline that is optimized for Mendelian disease gene discovery with variant callers tuned to specific inheritance modes, an interdisciplinary crowdsourcing strategy for genomic sequence analysis, matchmaking for additional cases, and integration of the findings regarding gene causality with the clinical management plan. The interdisciplinary gene discovery team includes clinical, computational, and experimental biomedical specialists who interact to identify the genetic etiology of the disease, and when so warranted, to devise improved or novel treatments for affected patients. This program effectively integrates the clinical and research missions of an academic medical center and affords both diagnostic and therapeutic options for patients suffering from genetic disease. It may therefore be germane to other academic medical institutions engaged in implementing genomic medicine programs

An exploration of factors affecting the long term psychological impact and deterioration of mental health in flooded households

The long term psychological effect of the distress and trauma caused by the memory of damage and losses associated with flooding of communities remains an under researched impact of flooding. This is particularly important for communities that are likely to be repeatedly flooded where levels of mental health disorder will damage long term resilience to future flooding.There are a variety of factors that affect the prevalence of mental health disorders in the aftermath of flooding including pre-existing mental health, socio-economic factors and flood severity. However previous research has tended to focus on the short term impacts immediately following the flood event and much less focus has been given to the longer terms effects of flooding. Understanding of factors affecting the longer term mental health outcomes for flooded households is critical in order to support communities in improving social resilience. Hence, the aim of this study was to explore the characteristics associated with psychological distress and mental health deterioration over the longer term.The research examined responses from a postal survey of households flooded during the 2007 flood event across England. Descriptive statistics, correlation analysis and binomial logistic regression were applied to data representing household characteristics, flood event characteristics and post-flood stressors and coping strategies. These factors were related to reported measures of stress, anxiety, depression and mental health deterioration. The results showed that household income, depth of flooding; having to move out during reinstatement and mitigating actions are related to the prevalence of psycho-social symptoms in previously flooded households. In particular relocation and household income were the most predictive factors. The practical implication of these findings for recovery after flooding are: to consider the preferences of households in terms of the need to move out during restorative building works and the financial resource constraints that may lead to severe mental hardship. In addition the findings suggest that support with installing mitigation measures may lead to improved mental health outcomes for communities at risk

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts. METHODS: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts. RESULTS: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay-malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts. CONCLUSION: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies

Ten-year Longitudinal Analysis of Hydroxyurea Implementation in a Pediatric Sickle Cell Program

Hydroxyurea (HU) has proven benefit in sickle cell anemia (SCA), but HU is still underutilized. The Pediatric Sickle Cell Program of Northern Virginia prescribes HU regardless of symptoms to all SCA patients age ≥ 9 months and prospectively tracks outcomes. HU is dosed to maximum tolerated dosing (MTD), targeting 30% Hgb F. Longitudinal data from 2009-2019 encompassing 1222 HU-eligible and 950 HU-exposure patient-years were analyzed in 2-year intervals for hemoglobin (Hgb), fetal hemoglobin (Hgb F), hospitalizations, transfusions, and treat-and-release ED visits. Comparing HU-eligible patients in the interval prior to HU implementation (2009-2011) to the last interval analyzed after HU implementation (2017-2019), HU usage increased from 33% to 93%, average Hgb increased from 8.3±0.98 to 9.8±1.3 g/dL (p\u3c0.0001), average Hgb F rose from 13±8.7% to 26±9.9% (p\u3c0.0001), hospitalizations decreased from 0.71 (95% CI 0.54-0.91) to 0.2 (95% CI 0.13-0.28) admissions/person-year, sporadic transfusions decreased from 0.4 (95% CI 0.27-0.55) to 0.05 (95% CI 0.02-0.12) transfusions/person-year. Treat-and-release ED visit rates remained unchanged, varying between 0.49 (95% CI 0.36-0.64) and 0.64 (95% CI 0.48-0.83) visits/person-year. By the last interval, 72% of patients had Hgb ≥ 9g/dL, 42% had Hgb F ≥ 30%, 79% experienced no hospitalizations, and 94% received no transfusions. Uniform HU prescription for SCA patients with close monitoring to achieve high Hgb F resulted in significant improvements in laboratory and clinical outcomes within 2 years, which continued to improve over the next 6 years. Rigorous HU implementation in a pediatric sickle cell population is feasible, effective, and sustainable. This article is protected by copyright. All rights reserved