Jaime Rosenberg

The researchers of a single-center study found that the relationships between epilepsy and autoimmune diseases may be a result of the different etiopathogenetic mechanisms that underly seizure development in each syndrome.

Patients with pulmonary arterial hypertension (PAH) related to connective tissue disorders (CTDs) and patients with PAH related to another condition accrued higher costs and higher health care resource use (HRU) vs patients who had CTD without PH.

A significantly higher proportion of patients with epilepsy scored above the threshold for clinically significant insomnia compared with controls in this new analysis, in line with previous research.

Although they note that their risk combination model needs validation, investigators argue that their insights should guide recommendations for risk stratification and management of these patients.

Hemarthropathy in multiple joints is a common feature of more severe forms of hemophilia, with the ankle joint often being reported as the main site of pain.

Although minimal residual disease (MRD) has emerged as a valuable prognostic marker across several hematological malignancies, its use in chronic lymphocytic leukemia (CLL) is mostly limited to clinical trials.

This analysis found that the 3000 patients with hemophilia had higher rates of pain, depression, and anxiety medication use.

Between 2019 and 2020, there were 97 reported shortages among sponsor-reported antiseizure medications in Australia, 93% of which were generic brands.

Following the course of lung function in treatment-naïve patients, researchers found that lung function decline does not accelerate prior to mechanical ventilation.

The measure will allow for a more complete picture of treatment burden and how it affects things like health-related quality of life and adherence, explained researchers.

Right ventricular (RV) dysfunction has previously been linked to symptoms and mortality in pulmonary hypertension (PH), as well as in other conditions, and RV function plays an important role in disease risk and potentially in intensification of pulmonary arterial hypertension treatment.

The Chinese report details the case of a 6-year-old female patient with type 1 SMA who was successfully weaned off prolonged invasive ventilation after beginning treatment with nusinersen.

Prior to this study, explained researchers, data on the long-term course of osteoporosis, as evaluated through bone mineral density (BMD) in these patients, have been lacking.

Using a clustering algorithm, researchers were able to identify inflammatory and noninflammatory subsets of the disease, which may account for varying responses to certain treatments.

The researchers noted that their study is the first to assess the ability of noninvasive variables, both resting- and exercise-based, to identify pulmonary hypertension in interstitial lung disease.

A group of researchers detailed a case of acquired hemophilia A (AHA) following infection and again following vaccination, and provided additional insights through their systematic review of available data.

These new findings suggest that variability in factor VIII (FVIII) half-life in patients, though impacted by all 3 factors, is largely attributed to variability in the clearance of endogenous von Willebrand factor (VWF).

Researchers retrospectively analyzed data from patients who visited 2 myeloma centers between March and October 2020, before vaccines were widely available but during large-scale implementation of regular screening processes.

The researchers used Paraphase on more than 400 samples of spinal muscular atrophy (SMA) comprising 5 ethnicities.

Researchers of the multicenter study looked at the effect of nusinersen among 48 patients with spinal muscular atrophy (SMA) from 2 Italian hospitals, finding more active immune systems among the patients with SMA1, the most severe form of the disorder.

Idecabtagene vicleucel (ide-cel) reduced the risk of disease progression or death by 51% in patients with triple-class–exposed relapsed or refractory multiple myeloma (R/R MM).

The approach for cardiovascular disease (CVD) was based on expert opinion, personal experience, and adaptation of evidence from people who did not have hemophilia.

Study findings offer insight into how exercise intolerance varies among subgroups of pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD), as previous data have characterized impaired exercise tolerance among PAH-CHD as a whole.

Having a diagnostic model that leverages artificial intelligence could fill a gap in the pulmonary hypertension (PH) diagnostic pathway, as there are currently just 2 validated screening algorithms for PH.

Researchers found that the anticoagulant effects of apixaban, betrixaban, edoxaban, and rivaroxaban were partially neutralized at an andexanet alfa dose of 50 mcg/mL and were completely neutralized at 100 mcg/mL.

The second half of 2022 brought the first gene therapies for hemophilia to the market in both the United States and abroad.

Investigators note that although the overall cost for implementing next-generation sequencing (NGS) testing would be more than implementing current polymerase chain reaction (PCR)–based testing, the assay may be more cost effective overall because it screens for multiple conditions.

The data showed that most doses of nusinersen were received on time while also underscoring the importance of being meticulous with the methodological approaches used with real-world databases for evaluating treatment patterns.

Throughout this study's 12-year period, the average annual percent change showed an uptrend for all groups in hospitalization for spinal cord compression (SCC), and this was higher for non-Hispanic Black patients vs Hispanic patients and non-Hispanic White patients.

Data show that patients who have factor VIII (FVIII) inhibitor titers of 20 or higher BU/mL took longer to achieve complete responses (CR) and had lower CR rates vs patients with lower titers.