Angiotensin–converting enzyme (ACE) inhibitors are the primarily chosen drugs to treat various cardiovascular diseases, such as hypertension. Although the most recent guidelines do not differentiate among the various ACE inhibitory drugs, there are substantial pharmacological differences. Goal: Here, we tested if lipophilicity affects the efficacy of ACE inhibitory drugs when used as the first therapy in newly identified hypertensives in a prospective study. Methods: We tested the differences in the cardiovascular efficacy of the hydrophilic lisinopril (8.3 ± 3.0 mg/day) and the lipophilic enalapril (5.5 ± 2.3 mg/day) (n = 59 patients). The cardiovascular parameters were determined using sonography (flow-mediated dilation (FMD) in the brachial artery, intima-media thickness of the carotid artery), 24 h ambulatory blood pressure monitoring (peripheral arterial blood pressure), and arteriography (aortic blood pressure, augmentation index, and pulse wave velocity) before and after the initiation of ACE inhibitor therapy. Results: Both enalapril and lisinopril decreased blood pressure. However, lisinopril failed to improve arterial endothelial function (lack of effects on FMD) when compared to enalapril. Enalapril-mediated improved arterial endothelial function (FMD) positively correlated with its blood–pressure–lowering effect. In contrast, there was no correlation between the decrease in systolic blood pressure and FMD in the case of lisinopril treatment. Conclusion: The blood–pressure–lowering effects of ACE inhibitor drugs are independent of their lipophilicity. In contrast, the effects of ACE inhibition on arterial endothelial function are associated with lipophilicity: the hydrophilic lisinopril was unable to improve, while the lipophilic enalapril significantly improved endothelial function. Moreover, the effects on blood pressure and endothelial function did not correlate in lisinopril-treated patients, suggesting divergent mechanisms in the regulation of blood pressure and endothelial function upon ACE inhibitory treatment.

Background: Spinal muscular atrophy (SMA) is a treatable motor neuron disease. Biomarkers for skeletal muscle atrophy are extremely important for measuring the effects of treatment and monitoring the natural course of the disease. The urinary titin N fragment (UNT) has recently been proven to be related to muscle damage. Methods: The UNT was measured in 41 patients with SMA and 41 healthy controls. Clinical data, functional tests, and laboratory findings were also recorded. Results: We found significantly higher UNT levels in the patient samples than in the healthy subjects. The UNT was not related to disease type, functional test results, or serum creatine kinase levels. Conclusions: This cross-sectional study highlights the importance of the UNT as a potential noninvasive biomarker for spinal muscular atrophy. Its role can potentially be verified through longitudinal studies.

Introduction/Aims: The repetitive nerve stimulation (RNS) test is fundamental to test the functional integrity of the neuromuscular junction. RNS data are scarce for newborns and young children, limiting early diagnostic efforts to identify children with neuromuscular diseases. Here, we performed RNS in young children.Methods: RNS of the axillary nerve was performed in 34 otherwise healthy young children (0 to 48 months of age) undergoing procedural sedation or analgesia. Compound muscle action potentials (CMAP) were recorded over the deltoid muscle. CMAP amplitude and area decrement between the 1st and 4th potential were determined at 3 Hz stimulation. Post‐tetanic facilitation, twitch‐to‐tetanus ratio, and heart rates were recorded.Results: The largest CMAP amplitude decrement value was 7% at rest, having a median of 1%, and an interquartile range of 1%–3%. There was no correlation between the CMAP amplitude decrement and age. In contrast, a moderate positive correlation was found between the CMAP area decrement and age, occasionally exceeding 10% in infants younger than 6 months. Both post‐tetanic facilitation and twitch‐to‐tetanus ratio exhibited a moderate positive correlation with age.Discussion: While the CMAP amplitude decrement in young children was within the adult normal range, the area decrement may be higher. Studies of RNS on other nerves in unsedated children are needed to investigate the findings from this study further.

Background: Myasthenia gravis (MG) and idiopathic inflammatory myopathy (IIM) are autoimmune diseases that affect the musculoskeletal system. The association of the two diseases is rare. Their management is different, so it is important to recognize the concomitant presentation. Methods: In this cross-sectional study, we study the presence of CK elevation, myositis-specific and myositis-associated antibodies (MSA/MAA), and vitamin D levels in a cohort of 101 MG patients. Electromyography, limb magnetic resonance imaging (MRI), and, in some cases, muscle biopsy were performed when IIM was suspected. We reviewed the patients’ medical records to access the results of these tests if they had been performed previously. Results: CK elevation was detected in 10 patients (9.9%). We identified one case of anti-Jo-1 antibody-positive polymyositis and two cases of possible myositis. MSA/MAA antibodies were not found in the patients with high CK levels, except for the one with anti-Jo-1-positive IIM. One patient with elevated CK levels had an overlapping muscular dystrophy. MSA/MAA antibodies were detected in 19 patients (18.8%). A total of 37% had high-titer antibodies and concomitant systemic autoimmune diseases, while 63% had low-titer antibodies, most of whom had no systemic autoimmune disease. Low serum vitamin D levels were found in 67.3% of patients. Comparison of myasthenia gravis composite (MGC) scores between patients with low and normal vitamin D levels did not show a statistically significant difference. Conclusions: Our results may raise awareness among neuromuscular specialists caring for MG patients of the possibility of associated myositis or other neuromuscular diseases and the need to assess vitamin D levels. Although deficiency was frequent, its impact on MG severity remains unclear, necessitating further investigation into its immunological relevance.

[ Background – Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neuromuscular disorder resulting in a loss of lower motoneurons. Recently, new disease-modifying treatments (two drugs for splicing modification of SMN2 and one for SMN1 gene replacement) have become available. Purpose – The new drugs change the progression of SMA with neonatal and childhood onset. Increasing amount of data are available about the effects of these drugs in adult patients with SMA. In this article, we summarize the available data of new SMA therapies in adult patients. Methods – Members of the Executive Committee of the Hungarian Clinical Neurogenetic Society surveyed the literature for palliative treatments, randomized controlled trials, and retrospective and prospective studies using disease modifying therapies in adult patients with SMA. Patients – We evaluated the outcomes of studies focused on treatments of adult patients mainly with SMA II and III. In this paper, we present our consensus statement in nine points covering palliative care, technical, medical and safety considerations, patient selection, and long-term monitoring of adult patients with SMA. This consensus statement aims to support the most efficient management of adult patients with SMA, and provides information about treatment efficacy and safety to be considered during personalized therapy. It also highlights open questions needed to be answered in future. Using this recommendation in clinical practice can result in optimization of therapy.]