To our knowledge, no Dutch questionnaires exist to administer patient satisfaction after total shoulder arthroplasty. The goal of this study is to develop a Dutch translation of the satisfaction questionnaire used by Swarup et al. (2017)1, into Dutch.
View Article and Find Full Text PDFTrans Am Clin Climatol Assoc
August 2024
Early in the pandemic, clinicians recognized an overlap between Long COVID symptoms and dysautonomia, suggesting autonomic nervous system (ANS) dysfunction. Our clinical experience at Johns Hopkins with primary dysautonomia suggested heritability of sympathetic dysfunction, manifesting primarily as hyperhidrosis and as other dysautonomia symptoms. Whole exome sequencing revealed mutations in genes regulating electrical signaling in the nervous system, thus providing a genetic basis for the sympathetic overdrive observed.
View Article and Find Full Text PDFω-Grammotoxin-SIA (GrTX-SIA) was originally isolated from the venom of the Chilean rose tarantula and demonstrated to function as a gating modifier of voltage-gated Ca2+ (CaV) channels. Later experiments revealed that GrTX-SIA could also inhibit voltage-gated K+ (KV) channel currents via a similar mechanism of action that involved binding to a conserved S3-S4 region in the voltage-sensing domains (VSDs). Since voltage-gated Na+ (NaV) channels contain homologous structural motifs, we hypothesized that GrTX-SIA could inhibit members of this ion channel family as well.
View Article and Find Full Text PDFPurpose: The aim of this study was to investigate if ultrasound could be a reliable and accurate tool to measure the size of the peroneal tubercle.
Material And Methods: This study measured the width, length, and height of the peroneal tubercle in 100 asymptomatic patients, comparing the measurements to prior radiographs of the foot (if available) and previously reported anatomical data. This study also assessed the intra- and interrater reliability of ultrasound as a measurement tool.
Purpose: Guanfacine is an α-adrenergic receptor agonist, FDA-approved to treat attention-deficit hyperactivity disorder and high blood pressure, typically as an extended-release formulation up to 7 mg/day. In our dysautonomia clinic, we observed that off-label use of short-acting guanfacine at 1 mg/day facilitated symptom relief in two families with multiple members presenting with severe generalized anxiety. We also noted anecdotal improvements in associated dysautonomia symptoms such as hyperhidrosis, cognitive impairment, and palpitations.
View Article and Find Full Text PDFBiomed Pharmacother
September 2023
Na1.1 is an important pharmacological target as this voltage-gated sodium channel is involved in neurological and cardiac syndromes. Channel activators are actively sought to try to compensate for haploinsufficiency in several of these pathologies.
View Article and Find Full Text PDFVoltage-activated Na (Na) channels are crucial contributors to rapid electrical signaling in the human body. As such, they are among the most targeted membrane proteins by clinical therapeutics and natural toxins. Several of the nine mammalian Na channel subtypes play a documented role in pain or other sensory processes such as itch, touch, and smell.
View Article and Find Full Text PDFBackground: With the emergence of the Asian giant hornet as a threat to honeybee survival, knowledge of potential ion channel targets expressed in the nervous system can propel the development of new insecticides that are safe for pollinators. We therefore examined the biophysical properties of the Shaker-like voltage-gated potassium (Kv) channel of (AmKv1; Western honeybee) and (VmKv1; Asian giant hornet) and compared these data with isoforms that differ in N-terminal amino acid sequence.
Methods: We expressed AmKv1 and VmKv1 in oocytes and determined their gating characteristics using electrophysiological measurements.
Photoactivatable drugs targeting ligand-gated ion channels open up new opportunities for light-guided therapeutic interventions. Photoactivable toxins targeting ion channels have the potential to control excitable cell activities with low invasiveness and high spatiotemporal precision. As proof-of-concept, we develop HwTxIV-Nvoc, a UV light-cleavable and photoactivatable peptide that targets voltage-gated sodium (Na) channels and validate its activity in vitro in HEK293 cells, ex vivo in brain slices and in vivo on mice neuromuscular junctions.
View Article and Find Full Text PDFVoltage-gated sodium (Na) channels help regulate electrical activity of the plasma membrane. Mutations in associated subunits can result in pathological outcomes. Here we examined the interaction of Na channels with cardiac arrhythmia-linked mutations in and , two genes that encode auxiliary β-subunits.
View Article and Find Full Text PDFBackground And Purpose: Voltage-gated sodium (Na ) channels are expressed de novo in carcinomas where their activity promotes invasiveness. Breast and colon cancer cells express the neonatal splice variant of Na 1.5 (nNa 1.
View Article and Find Full Text PDFSemin Musculoskelet Radiol
April 2021
We identified nine patients from four unrelated families harboring three biallelic variants in SCN1B (NM_001037.5: c.136C>T; p.
View Article and Find Full Text PDFThe reef stonefish (Synanceia verrucosa) is a venomous fish which causes excruciatingly painful envenomations. While some research on the pathophysiology and functions of the venom have been conducted, there are still some gaps in the understanding of the venom effects due to the extreme lability of fish venom toxins and the lack of available testing platforms. Here we set out to assess new functions of the venom whilst also attempting to address some unclear pathophysiological effects from previous literature.
View Article and Find Full Text PDFGranular cell tumors are rare soft tissue tumors that may occur in the breast. While almost always benign, they may mimic a malignant tumor both clinically and on imaging.
View Article and Find Full Text PDFRadiopaque lesions and lesions of mixed density are less frequent than radiolucent lesions of the jawbones. They comprise a spectrum of odontogenic and non-odontogenic lesions. The latter group includes inherited and developmental disorders, osteomyelitis, and benign and malignant primary bone tumors and metastases.
View Article and Find Full Text PDFSemin Musculoskelet Radiol
October 2020
With the introduction of cone beam computed tomography (CBCT) into dentistry in the 1990s, radiologists have become more frequently involved in dental implant planning. This article describes the information that should be included in a radiology report to achieve a successful implantation. The justification to use CBCT during the preoperative planning phase is based on the need to evaluate patient-specific anatomy in detail (general condition of the jaw, bone quantity, and bone quality), the application of more advanced surgical techniques (maxillary sinus augmentation procedure, zygomatic implants), and the integrated presurgical planning and virtual patient approach.
View Article and Find Full Text PDFJ Belg Soc Radiol
September 2020
Giant mucocele is a rare expansile lesion that may mimic other locally aggressive lesions of the cranial vault. Giant frontal mucoceles with massive osteolytic destruction mimicking an aggressive lesion are rare compared to smaller mucoceles. This article reports a giant mucocele of the frontal sinus and reviews the literature.
View Article and Find Full Text PDFAustralian funnel-web spiders are infamous for causing human fatalities, which are induced by venom peptides known as δ-hexatoxins (δ-HXTXs). Humans and other primates did not feature in the prey or predator spectrum during evolution of these spiders, and consequently the primate lethality of δ-HXTXs remains enigmatic. Funnel-web envenomations are mostly inflicted by male spiders that wander from their burrow in search of females during the mating season, which suggests a role for δ-HXTXs in self-defense since male spiders rarely feed during this period.
View Article and Find Full Text PDFManagement of chronic pain presents a major challenge, since many currently available treatments lack efficacy and have problems such as addiction and tolerance. Loss of function mutations in the SCN9A gene lead to a congenital inability to feel pain, with no other sensory deficits aside from anosmia. SCN9A encodes the voltage-gated sodium (Na) channel 1.
View Article and Find Full Text PDFMR imaging is nowadays regarded as the preferred imaging modality for evaluation of soft tissue lesions. As plain radiographs are often the first step in evaluation of musculoskeletal disorders, identification of subtle soft tissue signs may be helpful to select patients who need to be referred for subsequent MR imaging. Although not very sensitive, certain plain film findings, such as intralesional calcification or gas, may allow one to make to a more specific tissue diagnosis and may obviate the need for invasive diagnostic procedures and potential harmful treatment.
View Article and Find Full Text PDFSemin Musculoskelet Radiol
October 2019
Accessory bones, variants, and coalitions are not uncommon at the hand-wrist region. They are often overlooked because they are usually asymptomatic and found incidentally on imaging. However, they may sometimes present as a (painful) swelling or mimic a (sequel of a) fracture.
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