spasm

SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel NaV1.2 are rare with clinically heterogeneous expressions that include epilepsy, autism, and multiple severe to profound impairments and other conditions. To advance understanding of the clinical phenotypes and their relation to channel function, 81 patients (36, 44% female, median age 5.4 years) with 69 unique SCN2A variants were systematically phenotyped and their NaV1.2 channel function systematically assessed. Participants were recruited through the FamileSCN2A Foundation...

Background Hajj, the annual Islamic pilgrimage, brings together over two million pilgrims in the city of Makkah to participate in a series of rituals. Given the physically demanding nature of the Hajj, pilgrims are susceptible to musculoskeletal (MSK) injuries and exhaustion. MSK pain and injuries are frequent occurrences among pilgrims, necessitating an assessment of the scope of this issue. Therefore, the primary objective of this study was to determine the prevalence of MSK injuries among pilgrims during the 2023 Hajj season...

OBJECTIVES: To investigate the effect of electroacupuncture (EA) on Rho/Rho-associated coiled-coil-forming kinases (ROCK) signaling pathway of uterus tissue in rats with dysmenorrhea, so as to explore the underlying mechanism of EA treating primary dysmenorrhea (PD) and uterine smooth muscle spasm, and to observe whether there is a difference in the effect of meridian acupoints in Conception Vessel (CV) and Governer Vessel (GV). METHODS: Sixty female SD rats were randomly divided into saline, model, CV, GV, and non-acupoint groups, with 12 rats in each group...

The clinical use of irreversible electroporation in invasive cardiac laboratories, termed pulsed field ablation (PFA), is gaining early enthusiasm among electrophysiologists for the management of both atrial and ventricular arrhythmogenic substrates. Though electroporation is regularly employed in other branches of science and medicine, concerns regarding the acute and permanent vascular effects of PFA remain. This comprehensive review aims to summarize the preclinical and adult clinical data published to date on PFA's effects on pulmonary veins and coronary arteries...

BACKGROUND: We present a case of a pregnant patient with recurrent angina, in which her symptoms were initially attributed to coronary artery spasm. However, during follow-up, she was diagnosed as having pheochromocytoma, a rare neuroendocrine tumour. CASE SUMMARY: The 35-year-old patient was admitted to the hospital because of chest pain and elevated cardiac troponins after the use of MDMA. Physical examination, electrocardiogram, echocardiography, coronary angiogram, and cardiac MRI were normal...

METHODS: We used a Urethrotech catheterisation device in 57 male patients with spinal cord injury, in whom urethral catheterisation was unsuccessful or previous catheterisation was difficult. RESULTS: Urethrotech catheter could be inserted in 51 patients. No patient developed urinary tract infection. In one patient, the guidewire could not be introduced into the bladder, and a coude Foley catheter was inserted. In two patients, the guidewire was inserted into the bladder, but a 16 CH catheter could not be advanced over the guidewire...

OBJECTIVE: This study aims to investigate the clinical efficacy of biomimetic physiotherapy combined with manipulation therapy in the management of female myofascial pelvic pain syndrome (MPPS). METHODS: A total of 120 patients diagnosed with MPPS at our hospital from June 2018 to June 2021 were included. All patients had a history of sexual activity, met the diagnostic criteria for female chronic pelvic pain, and exhibited pelvic floor muscle and myofascial trigger points in gynecological examinations...

BACKGROUND: Coronary artery spasm (CAS) is a frequent finding in patients presenting with angina pectoris. Although the pathogenesis of CAS is incompletely understood, previous studies suggested a genetic contribution. Our study aimed to elucidate genetic variants in a cohort of European patients with angina and unobstructed coronary arteries who underwent acetylcholine (ACh) provocation testing. METHODS: A candidate association analysis of 208 genes previously associated with cardiovascular conditions was performed using genotyped and imputed variants in patients grouped in epicardial (focal, diffuse) CAS (n = 119) and microvascular CAS (n = 87)...

Coronary vasospasm is defined as the abnormal contraction of an epicardial coronary artery. Variant angina is a severe form of coronary vasospasm, reflecting transmural ischemia with ST-T elevation on an electrocardiogram. A pharmacologic spasm provocation test during coronary angiography is the gold standard evaluation for patients who have not been diagnosed with coronary vasospasm by a non-invasive test. The sensitivity and specificity of pharmacologic spasm provocation testing have been reported to be very high in patients with variant angina...

Microscopic microvascular decompression (M-MVD) is a classical treatment for relieving long-term hemifacial spasms (HFS). An endoscopy technique has recently been introduced to improve M-MVD; however, this application remains debatable. This study compared the safety and effectiveness of endoscope-assisted microvascular decompression (EA-MVD) and M-MVD for HFS. From February 2021 to September 2022, we enrolled 49 patients with HFS assigned to the EA-MVD (n = 26) and M-MVD (n = 23) groups...

Kounis syndrome (KS), recognized as a rare yet significant form of acute coronary syndrome precipitated by allergy-mediated mechanisms, poses diagnostic challenges due to its varied clinical presentations and under-recognition. Despite its relevance across diverse populations, comprehensive insights into age-specific characteristics and management remain limited. The analysis of 420 studies yielded a total of 466 case reports of Kounis syndrome, categorized into pediatric (n = 31) and adult (n = 435) populations...

Scorpio is a valuable Chinese animal medicine commonly used in clinical practice in China. It is the main drug in the treatment of liver wind internal movement caused by various reasons throughout the history of traditional Chinese medicine(TCM), with the effects of relieving wind and spasm, dredging collaterals, relieving pain, and eliminating toxin and mass. Scorpio is poisonous and often used as medicine after processing. There are records of its processing as early as the Song Dynasty. Afterward, there were more than 15 processing methods, including frying with vinegar, neat processing, and stir-frying...

Scorpions, a group of oldest animals with wide distribution in the world, have a long history of medicinal use. Scorpio, the dried body of Buthus martensii, is a rare animal medicine mainly used for the treatment of liver diseases, spasm, and convulsions in children in China. The venom has been considered as the active substance of scorpions. However, little is known about the small molecules in the venom of scorpions. According to the articles published in recent years, scorpions contain amino acids, fatty acids, steroids, and alkaloids, which endow scorpions with antimicrobial, anticoagulant, metabolism-regulating, and antitumor activities...

BACKGROUND: Primary hemifacial spasm (HFS) is usually caused by arterial compression of the facial nerve at the root exit zone at the brainstem. Rarely, a purely venous compression is seen. However, arachnoid bands strangulating the facial nerve have not been recognized as a cause of hemifacial spasm. OBSERVATIONS: The authors present a case of a 24-year-old female who had experienced HFS for 9 years. Endoscopic inspection of the root exit zone revealed no vascular compression but an arachnoid band strangulating the facial nerve...

Lower limb spasm and spasticity may develop following spinal cord injury (SCI), causing hyper-excitability and increased tone, which can impact function and quality of life. Pharmaceutical interventions for spasticity may cause unwanted side effects such as drowsiness and weakness. Invasive and non-invasive electrical stimulation has been shown to reduce spasticity without these side effects. The aim of this study was to investigate the effect of sacral afferent stimulation (SAS), through surface electrical stimulation of the dorsal genital nerve ( N  = 7), and through implanted electrodes on the sacral afferent nerve roots, on lower limb spasm and spasticity ( N  = 2)...

Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations. Here we present a case of a 4-month-old female with new onset infantile epileptic spasms syndrome (IESS) with initial etiology concerned for congenital cytomegalovirus (cCMV) due to a positive urine CMV PCR and maternal viral syndrome during pregnancy. Her brain MRI was significant for type 1 lissencephaly without other radiographical features of cCMV...

INTRODUCTION: Radial artery is the preferred access for coronary interventions. However, the procedure is sometimes interrupted by a spasm which causes pain, prolongs the procedure, and can force the access crossover. AIM: To observe factors contributing to a symptomatic radial artery spasm. MATERIAL AND METHODS: In this prospective study, we present results of 103 consecutive patients regarding radial artery spasm and angiographic image of the punctured artery...

BACKGROUND: The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes for KdVS include hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Up to now, there was only one case report about anesthesia management of patient diagnosed KdVS. It was a 2-year-old girl who experienced an MRI exam under anesthesia. CASE PRESENTATION: We described a 21-month-old boy who planned to undergo an orchidopexy under general anesthesia diagnosed with KdVS...

INTRODUCTION: The stiff person syndrome (SPS) is a rare and disabling neurological disorder characterized by muscle stiffness, painful spasms and rigidity involving the proximal and axial limb muscles, with an estimated incidence of 1 case per million per year. The first line of treatment for symptomatic management includes gamma-aminobutyric acid (GABA)ergic agonists, benzodiazepines and baclofen. The therapeutic plasma exchange (TPE), alone or as an adjuvant to other forms of immunomodulation, has been used as a therapeutic option, particularly in refractory cases...

A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease's etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3...