Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.

Background: The cumulative economic burden of rare diseases surpasses that of common conditions, yet patterns of healthcare resource utilization (HRU) across rare diseases remain poorly characterized. This study leverages multimodal data collected during clinical care and through surveys to provide an in-depth evaluation of HRU across the disease journey of individuals with rare genetic diseases. Individuals with a confirmed diagnosis of Kleefstra syndrome (KS; n = 40) or SLC6A1 epileptic encephalopathy (SLC6A1; n = 30) were recruited.

Emulations of oncology trials using real-world data: a systematic literature review.

By evaluating published emulations of oncology randomized control trial (RCT) studies in which both the active and comparator groups are sourced from real-world data (RWD) and target trial results are available for benchmarking, this systematic review aims to gain insight into factors related to emulation performance. Thirteen oncology emulation studies using various types of RWD were identified through an online database search of PubMed through 2022. Based on the ROBINS-I tool, most studies (n = 8) had a serious risk of overall bias driven by risk of bias from confounding.

Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada.

Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. A comprehensive understanding of disease progression, management, and healthcare resource utilization is limited, and further research is challenging due to the small population of patients. To address these challenges in conducting PSP research, individuals with PSP were recruited using a multichannel approach tailored specifically to the PSP community.

Receipt of Electroconvulsive Therapy and Subsequent Development of Amyotrophic Lateral Sclerosis: A Cohort Study.

We investigated the potential relationship between receipt of electroconvulsive therapy (ECT) and development of amyotrophic lateral sclerosis (ALS). We conducted a cohort study using a sample of more than one million beneficiaries enrolled in the U.S.

Teratogen update: Topical use and third-generation retinoids.

The first pharmaceutical retinoids approved by the U.S. Food and Drug Administration were given black-box warnings against their use in pregnancy due to potential teratogenic effects.

How Well Do U.S. Hispanics Adhere to the Dietary Guidelines for Americans? Results from the Hispanic Community Health Study/Study of Latinos.

To examine alignment between 2010 Dietary Guidelines for Americans (DGA) and dietary choices of individuals in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) between 2008 and 2011. Data are from 15,633 adults 18-74 years from the population-based cohort in HCHS/SOL. The Healthy Eating Index (HEI) 2010 was used to measure diet quality.

Survival of infants with spina bifida and the role of maternal prepregnancy body mass index.

Objective: To investigate first-year survival of infants born with spina bifida, and examine the association of maternal prepregnancy body mass index (BMI) with infant mortality.

Methods: This is a retrospective cohort study of 1,533 liveborn infants with nonsyndromic spina bifida with estimated dates of delivery from 1998 to 2011 whose mothers were eligible for the National Birth Defects Prevention Study (NBDPS). NBDPS data were linked to death records to conduct survival analyses.

Impact of chloroform exposures on reproductive and developmental outcomes: A systematic review of the scientific literature.

Aims: We assessed the animal and epidemiological data to determine if chloroform exposure causes developmental and/or reproductive toxicity.

Results And Discussion: Initial scoping identified developmental toxicity as the primary area of concern. At levels producing maternal toxicity in rats and mice, chloroform caused decrements in fetal weights and associated delays in ossification.

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects.

Objectives: To examine the first-year survival of infants with congenital heart defects (CHDs) and investigate the potential role of socioeconomic and demographic factors on survival.

Methods: Subjects included 15 533 infants with CHDs born between 2004 and 2013 ascertained by the NC Birth Defects Monitoring Program. We classified CHDs into the following 3 groups: critical univentricular ( = 575), critical biventricular ( = 1494), and noncritical biventricular ( = 13 345).

Antioxidant Consumption is Associated with Decreased Odds of Congenital Limb Deficiencies.

Background: Approximately 1 in 2000 infants is born with a limb deficiency in the US. Research has shown that women's periconceptional diet and use of vitamin supplements can affect risk of birth defects. We investigated whether maternal consumption of nutritional antioxidants was associated with occurrence of transverse limb deficiency (TLD) and longitudinal limb deficiencies (LLD).

Cutaneous malignant melanoma among white Hispanics and non-Hispanics in the United States.

Aim: To explore whether disparities exist in melanoma incidence and prognosis between White Hispanics and White non-Hispanics.

Methods: Analyses were based on 42,770 patients with malignant melanoma in the United States, 2004 through 2006.

Results: Hispanics were significantly less likely to be diagnosed with superficial spreading melanoma or Hutchinson's melanotic freckle, but significantly more likely to be diagnosed with nodular melanoma or acral lentiginous melanoma.