Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study

Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients with RTT is limited. This study provided an overview of the epidemiology, patient characteristics, clinical manifestations, healthcare resource utilization (HRU), costs, and treatment patterns of patients with RTT in the US. Methods IQVIA™ Medical Claims Data and Longitudinal Prescription Data (11/01/2016–10/31/2019) were used to identify female patients with RTT, with the first observed diagnosis defined as the index date. Annual incidence and prevalence of RTT were assessed over the entire study period; clinical manifestations, all-cause and RTT-related HRU and costs, and treatment patterns were evaluated during the observation period—from the index date to end of clinical activity or end of data availability, whichever occurred first. Results were further stratified into pediatric (< 18 years) and adult (≥ 18 years) subgroups. Results In 2019, prevalence and incidence of RTT was 0.32 and 0.23 per 10,000 enrollees, respectively. Among 5,940 female patients (pediatric: 3,078; adult: 2,862) with mean observation period of 2.04 years, the most prevalent clinical manifestations were neurological disorders (72.8%), gastrointestinal/nutritional disorders (41.9%), and orthopedic disorders (34.6%). The incidence rate of all-cause HRU was 44.43 visits per-patient-per-year and RTT-related HRU comprised 47% of all-cause HRU. Mean all-cause healthcare costs were $40,326 per-patient-per-year, with medical costs driven by home/hospice care visits, therapeutic services, outpatient visits, and inpatient visits. RTT-related healthcare costs comprised 45$45,718 and $34,548, respectively). Conclusions Patients with RTT have substantial disease burden, including prevalent clinical manifestations, high rates of HRU and annual healthcare costs, and reliance on pharmacologic and supportive therapies. These findings underscore the unmet need for effective therapies to target the multifactorial manifestations of RTT

Elevated Indoor Volatile Organic Compound Exposure in the Niger Delta Region of Nigeria

The implications of environmental contamination on human health in the Niger Delta region of Nigeria remain a topic of growing international public health interest. To better understand ongoing air pollution and initiate remediation efforts, the United Nations Environmental Programme (UNEP) report recommended the monitoring of volatile organic compounds (VOCs) across different media (water, soil, and air) in Ogoniland, an at-risk population in the Niger Delta region of Nigeria. In this pilot study, we measured indoor VOC concentrations in the indoor air of 20 households in Ogale, an Ogoniland community whose groundwater system is contaminated with benzene at levels 900 times the World Health Organization guidelines and evaluated self-reported health conditions and predicted cancer risks and hazards from inhalation exposure to VOCs. We detected higher concentrations of benzene (mean = 25.7 &mu;g/m3, SD = 23.2 &mu;g/m3) and naphthalene (mean = 7.6 &mu;g/m3, SD = 13.8 &mu;g/m3) than has been reported in other regions. Although study participants reported health symptoms consistent with VOC exposure, we were underpowered to detect a significant association between select indoor VOCs and these self-reported health symptoms using univariate logistic regression models. These findings suggest that that the health symptoms reported by participants may be poor proxies for the underlying disease processes associated with adverse health outcomes due to VOC exposure in this community and that the burden of adverse health effects due to VOC exposure may stem from the contaminated groundwater system. We estimated a non-cancer hazard quotient of 3 from exposure to naphthalene and lifetime excess cancer risks from exposure to naphthalene, benzene, p-dichlorobenzene, carbon tetrachloride, and ethylbenzene of 3 &times; 10&minus;4, 2 &times; 10&minus;4, 6 &times; 10&minus;5, 6 &times; 10&minus;6, and 1 &times; 10&minus;5, respectively. These results exceed common risk benchmarks in the United States, suggesting a need for further studies to characterize VOC exposures, sources, and associated health risks in the Niger Delta

Airborne 2,5-dimethylfuran as a marker to indicate exposure to indoor tobacco and biomass burning smoke

Smoke from domestic tobacco smoking and biomass burning is the most harmful indoor air pollutant. This study aimed to evaluate 2,5-dimethylfuran (DMF) as a marker to indicate exposure to environmental tobacco smoke (ETS) and biomass burning smoke (BBS) in households. The evaluation consisted of three indoor air monitoring campaigns in (1) 8 apartments with different smoking scenarios, (2) 76 apartments in a Metropolitan city, and (3) 26 homes in two rural areas. All the air samples were collected in a passive way using thermal desorption (TD) tubes and analyzed by TD-gas chromatography/mass spectrometry (GC/MS). The indoor smoking experiments showed that TD tubes could detect DMF even when the occupant smoked one cigarette every day. In urban homes, DMF detection had a substantial agreement with smoking status, indicated by a Kappa coefficient of 0.67. In rural homes, DMF was detected at high concentrations in homes with biomass burning. Along with DMF, the TD tubes could detect and quantify over 70 other volatile organic compounds (VOCs), allowing exposure and risk assessment for indoor smoke. In conclusion, monitoring DMF with TD tubes offers an easy, low-cost approach to measure domestic ETS and BBS exposures. This method has the potential to measure exposure to outdoor smoke from wildfire and agricultural burning