Introduction: Haemophilia is characterized by frequent haemarthrosis, leading to acute/chronic joint pain. Aim: To assess self-reported prevalence, description and management of pain in adult males with mild-to-severe haemophilia and history of joint pain/bleeding. Methods: Participants completed a pain survey and five patient-reported outcome instruments assessing pain, functional impairment and health-related quality of life (HRQoL). Results: Of 381 participants enrolled, median age was 34 years; 77% had haemophilia A, 71% had severe disease and 65% were overweight/obese. Many (56%) were not receiving routine infusions; 30% never received routine infusions. During the prior 6 months, 20% experienced acute pain, 34% chronic pain and 32% both acute/chronic pain. Subjects with both acute/chronic pain (vs. none, acute or chronic) were more likely to be depressed (30% vs. 0-15%), obese (35% vs. 20-29%) and have lower HRQoL (mean EQ-5D visual analog scale, 69 vs. 83-86) and function (median overall Hemophilia Activities List, 60 vs. 88-99). Most common analgesics used for acute/chronic pain during the prior 6 months were acetaminophen (62%/55%) and non-steroidal anti-inflammatory drugs (34%/ 49%); most common non-pharmacologic strategies were ice (65%/33%) and rest (51%/33%). Hydrocodoneacetaminophen was the most common opioid for both acute/chronic pain (30%); other long-acting opioids were infrequently used specifically for chronic but not acute pain (morphine, 7%; methadone, 6%; fentanyl patch, 2%). Conclusion: Patients with chronic pain, particularly those with both acute/chronic pain, frequently experience psychological issues, functional disability and reduced HRQoL. Treatment strategies for acute pain (e.g. routine infusions to prevent bleeding) and for chronic pain (e.g. long-acting opioids) may be underused.

Background Children with cancer experience multiple symptoms due to their disease and as a result of treatment. The purpose of this study was to demonstrate the feasibility and potential utility of using latent profile analysis (LPA), a type of cluster analysis, in children with cancer to identify groups of patients who experience similar levels of symptom severity and impairment of physical function. Procedure We analyzed patient-reported symptom and functional data previously collected using the Pediatric Patient Reported Outcomes Measurement Information System (PROMIS). LPA was used to identify and characterize groups of patients who reported similar levels of symptom severity and functional impairment. We then used the multinomial logit model to examine demographic and disease characteristics associated with symptom/ function profile membership. Results The analysis included 200 patients in treatment or in survivorship. We identified four symptom/ function profiles; children currently receiving cancer treatment and those with at least one other medical problem were more likely to be members of the profile with the highest levels of symptom severity and functional impairment. Gender, age, race/ethnicity, and tumor type were not associated with profile membership. Conclusions LPA is a cluster research methodology that provides clinically useful results in pediatric oncology patients. Future studies of children with cancer using LPA could potentially lead to development of clinical scoring systems that predict patients’ risk of developing more severe symptoms and functional impairments, allowing clinicians, patients, and parents to better anticipate and prevent the multiple symptoms that occur during and after treatment for childhood cancer.

Data demonstrate challenges of predominantly ankle/knee pain and lower extremity functional impairment in US adult PWH, affecting HRQoL across PROs/HJHS.

The ␣9 acetylcholine receptor (␣9 AChR) is specifically expressed in hair cells of the inner ear and is believed to be involved in synaptic transmission between efferent nerves and hair cells. Using a recently developed method, we modified a bacterial artificial chromosome containing the mouse ␣9 AChR gene with a reporter gene encoding green fluorescent protein (GFP) to generate transgenic mice. GFP expression in transgenic mice recapitulated the known temporal and spatial expression of ␣9 AChR. However, we observed previously unidentified dynamic changes in ␣9 AChR expression in cochlear and vestibular sensory epithelia during neonatal development. In the cochlea, inner hair cells persistently expressed high levels of ␣9 AChR in both the apical and middle turns, whereas both outer and inner hair cells displayed dynamic changes of ␣9 AChR expression in the basal turn. In the utricle, we observed high levels of ␣9 AChR expression in the striolar region during early neonatal development and high levels of ␣9 AChR in the extrastriolar region in adult mice. Further, simultaneous visualization of efferent innervation and ␣9 AChR expression showed that dynamic expression of ␣9 AChR in developing hair cells was independent of efferent contacts. We propose that ␣9 AChR expression in developing auditory and vestibular sensory epithelia correlates with maturation of hair cells and is hair-cell autonomous.

The Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) initiative was launched in an effort to address specific gaps in the understanding of the psychosocial impact of mild-moderate-severe hemophilia B. The original Hemophilia Experiences, Results and Opportunities (HERO) qualitative study evaluated the needs of people with hemophilia A or B in multiple countries; however, a majority of participants had the more common moderate-severe hemophilia A. The B-HERO-S study was designed in collaboration with the hemophilia community to evaluate the needs of adults with hemophilia B and caregivers of children with hemophilia B, including affected women and caregivers of girls with hemophilia. The report presented here describes participant demographics and comorbidities, as well as treatment regimens and access to treatment. Bleeding symptoms were reported by 27% of mothers of children with hemophilia B who participated. Women were more likely than men to self-report arthritis and depression/anxiety as comorbidities associated with hemophilia B. More adults and children with hemophilia B were on routine treatment than on on-demand treatment, and a high percentage of adults with moderate hemophilia B received routine treatment (86%). Many adults with hemophilia B (78%) and caregivers (69%) expressed concern about access to factor in the next 5 years, and of adults with hemophilia B, women more commonly experienced issues with access to factor in the past than did men (72% vs 44%). The findings of the B-HERO-S study reveal potential unmet needs of some patients with mild-moderate hemophilia B, and the results may be leveraged to inform patient outreach by hemophilia treatment centers and education initiatives. K E Y W O R D Saccess, comorbidities, demographics, factor IX, hemophilia B

Pain, functional impairment, and depression/anxiety are present at higher-than-expected levels in individuals with hemophilia B. The large proportion of individuals with mild/moderate hemophilia and women with reduced health status suggests significant unmet needs in this population.

Pain and HRQoL were evaluated using multiple PRO instruments, which vary in timescales of assessment and levels of detail. More consistent clinical assessments and patient dialog regarding pain and aspects of HRQoL may help drive improved outcomes.

Haemophilia. 2020;26:487-493.wileyonlinelibrary.com/journal/hae | 487 | INTRODUC TI ONHaemophilia is an X-linked, inherited disorder that results from mutations in the genes that code for one of two proteins necessary for normal blood clotting, factor VIII (haemophilia A) or factor IX (haemophilia B). Haemophilia A (HA) is more common than haemophilia B (HB); however, both disorders primarily affect males and result in bleeding in organs, tissues and joints in response to trauma and Introduction: Estimates of the size and characteristics of the US haemophilia population are needed for healthcare planning and resource needs assessment. A network of comprehensive haemophilia treatment centres (HTCs) located throughout the United States receives federal support for diagnosis and management of haemophilia and other rare bleeding disorders.Aim: Estimate the incidence and prevalence of haemophilia among US males using the HTC network. Methods:During the period 2012-2018, de-identified surveillance data were collected on all males who visited an HTC that included year of birth, gender, race, Hispanic ethnicity, residence zip code, haemophilia type and severity. Data from all patients were used to calculate period prevalence by haemophilia type, severity and state of residence. Data from a subset of patients born 1995-2014 were used to estimate incidence rates over the 20-year period.