In patients with pulmonary arterial hypertension (PAH), chronic use of digoxin is linked to greater all-cause mortality and hospitalization for heart failure, according to findings from the single-center Minnesota Pulmonary Hypertension Repository (MPHR) published in the Journal of the American Heart Association. Among individuals with PAH, increased right ventricular (RV) afterload is associated with RV…
According to a recent study published in the International Journal of Neonatal Screening, harmonization can effectively minimize false-negative and false-positive results in newborn screening for Pompe disease and mucopolysaccharidosis type 1 (MPS 1). The study observed a reasonable agreement in the enzyme activities and cutoffs with harmonization; however, it could not identify how a value (positive or…
The use of an 18F-dihydroxyphenylalanine (DOPA) positron emission tomography (PET)/computed tomography (CT) scan led to the diagnosis of mediastinal adenopathies and the detection of a low-grade neuroendocrine tumor in the appendix in a patient with medullary thyroid carcinoma (MTC) who had undergone radical surgical resection, according to a recently published case report in the Spanish…
A new case report has observed that physical therapy using proprioceptive neuromuscular facilitation (PNF) stabilization techniques improved walking and reduced symptoms of ataxia in a patient with Friedreich ataxia (FA). The case report, published in Vojnosanitetski Pregled, offers preliminary guidance for physical therapists who work with patients with FA. “Most studies have shown a reduction in…
The oral drug selexipag is beneficial and safe for patients with pulmonary arterial hypertension (PAH) and connective tissue disease (CTD), according to a study published in Rheumatology and Therapy. The most common cause of PAH is idiopathic; the second is a CTD such as systemic sclerosis or systemic lupus erythematosus. The association between systemic sclerosis…
New data from a phase 3 clinical trial showed that inebilizumab treatment reduced asymptomatic optic nerve lesion formation in patients with neuromyelitis optica spectrum disorder (NMOSD). This new finding was announced in a press release by Horizon Therapeutics, the developers of inebilizumab, and was also presented at the 49th Annual Meeting of the North American Neuro-Ophthalmology…
A new study published in Molecular Genetics and Genomics found sexually dimorphic expression of frataxin (FXN), which plays a central role in Friedreich ataxia (FA), in the Harderian gland and endocrine tissues of hamsters. The study also suggests that sex steroids regulate FXN expression in hamsters. “This sexual dimorphism associated with FXN in the hamster…
A new study published in Molecular Genetics and Metabolism Reports found that utilizing conjoint fascial sheath (CFS) suspension as an adjuvant to levator muscle resection (LR) can achieve the desired long-term outcomes with minimal recurrence in patients with infantile-onset Pompe disease (IOPD) related ptosis. The study investigated cases of 6 patients, of whom 4 were boys, and 2 were girls,…
According to a new study published in Medical Hypotheses, α-glucosidase with a high specific activity can efficiently break down the accumulated glycogen in the tissue of patients with Pompe disease. The study highlighted that α-glucosidase with a high turnover number could reduce the required dosage for treatment and potentially lower the treatment cost. The study further suggested…
The use of machine learning (ML) with radiomic features can be used to predict the early recurrence of intrahepatic cholangiocarcinoma (CCA) following surgical resection, according to a study published in the European Journal of Nuclear Medicine and Molecular Imaging. The mean area under the receiver operating characteristic curve (AUC) of 7 ML radiomics models developed…
