Ahluwalia, Vaibhav

Abstract Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant vasculopathy affecting 1 in 5000 individuals, is the second most common inherited bleeding disorder worldwide. Despite this prevalence, comprehensive data on disease manifestations and complications remain limited. To address this gap, the US Congress allocated funding leading to the Comprehensive HHT Outcomes Registry of the United States (CHORUS), a prospective, 15-center longitudinal registry enrolling unselected patients with confirmed HHT. In this initial report, we describe findings from the first 600 participants, with a median age of 53 (range, 0-88) years and 60% female. Despite most participants developing typical HHT manifestations by age 13 years, the majority (63%) were not diagnosed until mid-to-late adulthood. Recurrent spontaneous epistaxis occurred in 95% of participants, chronic gastrointestinal bleeding in 30%, and heavy menstrual bleeding in 35% of postmenarche females, together resulting in moderate-to-severe mucosal bleeding in 76%. Iron deficiency and/or anemia were diagnosed in 68%, with 41% requiring IV iron and 25% requiring red cell transfusions. Serious complications of solid-organ arteriovenous malformations were frequent, including intracranial hemorrhage (3%), pulmonary hemorrhage (2%), venous thromboembolism (7%), arterial thromboembolism (11%), heart failure (7%), and pulmonary hypertension (7%). These data from CHORUS, the first national US registry of its kind, provide reliable, real-world estimates of the incidence, prevalence, and severity of numerous HHT manifestations and complications. HHT has a high burden of moderate-to-severe bleeding, anemia, thrombosis, and major neurologic and cardiopulmonary complications. There is a mean interval between first symptoms and diagnosis of >2 decades, during which substantial, serious, and preventable HHT morbidity, including early intracranial hemorrhage, may occur. This trial was registered at clinicaltrials.gov as NCT06259292.

Abstract Chronic cough is not only one of the leading causes of seeking healthcare all over the world but also a huge emotional drain on the affected patient population. In this study, we used 24-hour cough recordings to analyze the intervening conversations for sentiment analyses to better diagnose, guide, and manage treatment in such patients. We surveyed a cough clinic and selected four subjects with active cough complaints using relevant ICD-10 codes. Subjects were given and instructed to wear a device to record cough for 24 hours and the recordings were collected at weeks 0, 4, 8, and 12 of the treatment. The collected data was preprocessed to eliminate sections with no data (sleep, silence) and the number of coughs was counted. Google search API calls were used to transcribe the audio files and NLTK’s VADER analyzer was used to classify sentiments on a scale of 0 to 1. Finally, average scores were calculated and plotted over a graph to interpret any trends. 12 weeks of cough treatment had varied results on the four subjects. We categorized the exhibited sentiments into negative, neutral, positive, and compound and noted that they also showed no general trends. Among these, the compound sentiment displayed the most erratic patterns, and the obtained results could not generate a steady trend. Further studies are required with a large cohort to collect data over a longer duration to accurately analyze the sentiments associated with chronic cough.