Transient Muscle Research Articles

The Effects of OnabotulinumtoxinA on Anxiety: A Systematic Review and Quantitative Analysis

Background: Psychopathological symptoms can exacerbate or induce cutaneous disorders. The side effect profile of psychiatric medications may reduce compliance in patients with primarily dermatologic complaints. OnabotulinumtoxinA injections are a common dermatologic intervention that recently demonstrated efficacy in reducing depressive symptoms. This systematic review investigates the anxiolytic effects of onabotulinumtoxinA in patients with comorbid anxiety. Methods: Following PRISMA guidelines, databases including APA PsycInfo, Embase, and PubMed were searched using MeSH terms related to onabotulinumtoxinA and anxiety. English-language primary research that examined the effects of onabotulinumtoxinA on anxiety was selected. Data regarding study design, participant demographics, indications, dosage, and anxiety scores were analyzed. Results: From 677 citations, 32 studies involving 41 patient groups met the criteria for inclusion in this review. The average population was 46 ± 14 years old and female (70 ± 24%). The most common indications for onabotulinumtoxinA included pain (46.3%) and chronic migraines/headaches (34.1%) with a mean dose of (251 ± 368 U). The severity of anxiety was assessed with validated scales in 94% and 81% of patients pre- and post-injection, respectively. At 4 ± 5 months post-onabotulinumtoxinA, 63% of patient groups revealed significant reductions in anxiety. Transient pain and muscle stiffness were the most common side effects, reported in 41.5% of groups. Conclusion: OnabotulinumtoxinA is a promising anxiolytic with a mild side effect profile. Further research will be needed to detail its efficacy relative to specific dermatologic indications, injection locations, and lasting effects.

Transcriptomics reveals transient and dynamic muscle fibrosis and atrophy differences following spinal cord injury in rats.

The rate and magnitude of skeletal muscle wasting after severe spinal cord injury (SCI) exceeds most other disuse conditions. Assessing the time course of molecular changes can provide insight into the progression of muscle wasting post-SCI. The goals of this study were (1) to identify potential targets that may prevent the pathologic features of SCI in soleus muscles and (2) to establish therapeutic windows for treating these pathologic changes. Four-month-old Sprague-Dawley male rats received T9 laminectomy (SHAM surgery) or severe contusion SCI. Hindlimb locomotor function was assessed weekly, with soleus muscles obtained 1week, 2weeks, 1month and 3months post-surgery (n=6-7 per group per timepoint). RNA was extracted from muscles for bulk RNA-sequencing analysis (n=3-5 per group per timepoint). Differentially expressed genes (DEGs) were evaluated between age-matched SHAM and SCI animals. Myofiber size, muscle fibre type and fibrosis were assessed on contralateral muscles. SCI produced immediate and persistent hindlimb paralysis, with Basso-Beattie-Bresnahan locomotor scores remaining below 7 throughout the study, contributing to a progressive 25-50% lower soleus mass and myofiber atrophy versus SHAM (P<0.05 at all timepoints). Transcriptional comparisons of SCI versus SHAM resulted in 184 DEGs (1week), 436 DEGs (2weeks), 133 DEGs (1month) and 1200 DEGs (3months). Upregulated atrophy-related genes included those associated with cell senescence, nuclear factor kappa B, ubiquitin proteasome and unfolded protein response pathways, along with upregulated genes that negatively influence muscle growth through the transforming growth factor beta pathway and inhibition of insulin-like growth factor-I/Akt/mechanistic target of rapamycin and p38/mitogen-activated protein kinase signalling. Genes associated with extracellular matrix (ECM), including collagens, collagen crosslinkers, proteoglycans and those regulating ECM integrity, were enriched within upregulated DEGs at 1week but subsequently downregulated at 2weeks and 3months and were accompanied by >50% higher ECM areas and hydroxyproline levels in SCI muscles (P<0.05). Myofiber remodelling genes were enriched in upregulated DEGs at 2weeks and 1month and were downregulated at 3months. Genes that regulate neuromuscular junction remodelling were evident in muscles post-SCI, along with slow-to-fast fibre-type shifts: 1 week and 2 weeks SCI muscles were composed of 90% myosin heavy chain (MHC) type I fibres, which decreased to only 16% at 3months and were accompanied by 50% fibres containing MHC IIX (P<0.05). Metabolism genes were enriched in upregulated DEGs at 1month and were further enriched at 3months. Our results substantiate many known pathologic features of SCI-induced wasting in rat skeletal muscle and identify a progressive and dynamic transcriptional landscape within the post-SCI soleus. Future studies are warranted to consider these therapeutic treatment windows when countering SCI muscle pathology.

Caveolinopathy pesenting with excercise induced stiffness and transient muscle mounding

Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper- CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.

Pericapsular nerve group block for osteoarthritis-related chronic hip joint pain: a case report

BackgroundPericapsular nerve group (PENG) block has shown effectiveness for acute hip pain associated with fractures and surgery. Herein, PENG block was performed for osteoarthritis (OA)-related chronic hip joint pain.Case presentationA 65-year-old woman presented left hip pain. She had bilateral hip osteoarthritis that improved with medications; however, a fall resulted in left hip pain. She experienced severe pain on movements, which required walking aids. To alleviate the hip pain, a PENG block was performed under ultrasound guidance. Transient muscle weakness occurred in 2 of 5 times. After 5 blocks, she regained the ability to walk without assistive devices. Pain did not recur even after 6 months.ConclusionsRepeated PENG blocks of short-acting local anesthetics alone could be an effective pain management technique for chronic hip pain. For safety, the appropriate injection site and local anesthetic dosage must be carefully considered.

Acute Effects in Selective Training of the Peroneus Longus and Peroneus Brevis

Category: Other Introduction/Purpose: The peroneal muscles undergo morphological changes and functional decline after a lateral ankle sprain, contributing to recurrence. We reported that different morphological changes occur in the peroneus longus (PL) and peroneus brevis (PB) after the lateral ankle sprain (Arima et al., 2022), and we believe that separate strength training for the PL and PB is necessary. However, the effect of selective training has not been studied. This study examined the acute effects of two different strength training interventions on PL and PB muscle morphology, one emphasizing loading on the ball of foot in PL training and the other emphasizing ankle eversion in PB training. The aim was then to determine the validity of selective strength training interventions for the peroneal muscles. Methods: Twenty healthy adults participated. Two training interventions were performed using a Thera-Band (strength: level +3 (black), Sakai Medical) in the right leg on separate days: the PL intervention in which the Thera-Band was placed on the ball of foot and pushed out from the contact point, and the PB intervention in which the Thera-Band was pushed out from the base of the fifth metatarsal. Muscle cross-sectional area (CSA) and thickness of the peroneus muscles at the proximal 25% (showing PL) and 75% (showing PB) from the line connecting the fibular head and lateral malleolus were measured with an ultrasound device. Measurements were taken before (Pre), immediately after (Post), and 10, 20, and 30 minutes after the intervention (time effect). A repeated measures two-way ANOVA was conducted to identify differences in the training effects of PL and PB interventions on PL and PB CSA, thickness. The significance level was 5%. Results: Significant main effects of time and intervention and a significant interaction between time and intervention were found in the proximal 25% and distal 75% CSA and thickness (p &lt; 0.05). For the proximal 25% CSA, only PL intervention significantly increased the CSA compared to Pre at Post, 10 and 20 minutes (p &lt; 0.05). With regard to the proximal 75% CSA, only PB intervention significantly increased the CSA compared to Pre at Post, 10 and 20 minutes (p &lt; 0.05). For the proximal 25% thickness, only PL intervention showed a significant increase in Post compared to Pre (p &lt; 0.05). Regarding proximal 75% thickness, only PB intervention significantly increased the thickness compared to Pre at Post, 10, and 20 minutes (p &lt; 0.05). Conclusion: Previous studies have reported that PL muscle activity is increased by the ball of foot loading (Ishida et al., 2011), and the PB contributes to ankle eversion compared to the PL (Otis et al., 2007). Transient muscle hypertrophy immediately after training is due to edema caused by muscle damage, indicating an acute effect of training (Damas et al., 2016). The CSA and thickness of the proximal 25% showing PL in the PL intervention and the distal 75% showing PB in the PB intervention increased immediately after those interventions in this study, suggesting the possibility of selectively training PL and PB.

A RARE CASE OF UNILATERAL TRANSIENT MYDRIASIS AFTER BOTULINUM TOXIN INJECTION FOR COSMETIC PROCEDURE

Introduction: Botulinum toxin A (BTX-A) was first used for the aesthetic purposes in 1990 to reduce wrinkles caused by facial muscle. Its effect starts 3 to 4 days after application and lasts for 4 to 6 months. All the medical doctors, from plastic surgeons to dermatologists can administer botulinum toxin A injection effectively and safely. Ophthalmologists are also performing this procedure for blepharospasm. Case Report: A 35 year old female present to emergency department with complain of sudden onset of right eye blurred vision with tingling sensation of the right side of the face. Patient has been injected with BTX-A for a cosmetic procedure about a 2 weeks ago. On presentation, her right pupil measured 9 mm and was fixed, with no direct or consensual response to light, and her left pupil was 3 mm and had a normal light response. CT brain and cranial MRI revealed no optic nerve or cerebral dysfunction. Patient was counselled that the mydriasis would not be permanent. In follow up after 10 days her mydriasis was improved. Discussion: Botulinum neurotoxins inhibit the release of acetylcholine and act primarily at the peripheral cholinergic synapses. These agents act at the neuromuscular junction in skeletal muscle, causing transient muscle paresis. Botulinum toxins could therefore cause pupil dilatation by uptake into the parasympathetic neurons at the level of the ciliary ganglion or the parasympathetic neuromuscular junctions in the sphincter pupillae of the iris. Conclusion: Before botulinum injection for cosmetic purposes or to treat blepharospasm, patients should be warned about the possibility of developing toxin-induced ptosis and mydriasis.

PA25 Persistent and widespread infantile transient smooth muscle contraction of the skin: an atypical presentation of a rare condition.

Abstract Infantile transient smooth muscle contraction of the skin is a rare entity. Eleven cases have been described in the literature to date. Herein, we describe an unusual presentation, persistent and widespread in nature. A 2-year-old girl presented with asymptomatic bilateral transient textural change of the skin overlying the thighs. Textural changes were noted from birth, occurring a number of times each day. Episodes resolved spontaneously, sometimes within minutes, on occasion lasting up to 1 h. The child remained systemically well during episodes. Textural change progressed to involve the skin overlying the abdomen. Friction and temperature change did not provoke episodes. No other triggers were elicited. Background history included metatarsus adductus, which was under routine follow-up with orthopaedics. Full skin examination between episodes revealed no cutaneous abnormality. The areas affected were normal to palpate. Photographs and videos of episodes revealed marked textural change of the skin overlying both thighs and abdomen, with a striking stippled appearance. Laboratory investigations, including tryptase, lactate dehydrogenase, immunoglobulins and complement, were unremarkable. A case series first described nine cases of infantile transient smooth muscle contraction in 2013 (Torrelo A, Moreno S, Castro C et al. Infantile transient smooth muscle contraction of the skin. J Am Acad Dermatol 2013; 69:498–500). Textural skin changes occurred most frequently on the lower limbs. In eight of these cases, episodes resolved within 1 min. Episodes occurred both spontaneously and secondary to light friction from clothing, cool air and bathing. The majority of cases were noted from birth or in the first days of life. Skin biopsies taken from three of these patients revealed no abnormality. Episodes resolved by 2 years of age in all cases. It has been suggested that this transient phenomenon may be secondary to autonomic nervous system immaturity, primitive reflex phenomena or transient hypersensitivity of the smooth muscle. A more recent case has since been described in the literature (Theodosiou G, Belfrage E, Berggård K, Cristiansen J. Infantile transient smooth muscle contraction of the skin: a case report and literature review. Eur J Dermatol 2021; 31:260–1). We describe a persistent case of infantile transient smooth muscle contraction of the skin, in a child aged &amp;gt; 2 years, with prolonged episodes, progressing from lower limbs to truncal involvement. Recognition of this rare condition is important, to allow appropriate reassurance regarding its benign and self-limiting nature.

1017 Laughing in the Face of Laughter: Narcolepsy with severe cataplexy refractory to medication: A case report

Abstract Introduction Cataplexy, a transient muscle atonia, typically occurs in response to positive emotions such as laughter or mirth. Cataplexy occurs in association with hypocretin deficiency/narcolepsy type 1 (NT1) and involves descending REM sleep-motor inhibition pathways. 1. Here we present a case with late – onset NT1, refractory to medication. Report of case(s) A 65-year-old man with a normal BMI presented to the autonomic clinic for presumed syncope, facial and leg weakness, occurring up to 50 times daily, triggered by laughter and a stressful life event from 4 years prior. Tilt testing and brain magnetic resonance imaging, were unremarkable, while sleep–deprived electroencephalogram was concerning for cataplectic versus functional attacks. He underwent diagnostic polysomnography (PSG) that showed severe obstructive sleep apnea (OSA) and was treated with bilevel positive airway pressure (BPAP). A repeat PSG after his OSA was controlled on BPAP, followed by a multiple sleep latency test the next day, showed a mean sleep latency of 2.7, and sleep onset rapid eye movement in 3 of 5 naps; cerebrospinal fluid hypocretin was undetectable and DQB1*06:02 was positive. He denied sleep paralysis and sleepiness, and jovial by nature, he joked as a hobby, leading to cataplexy. Trials of sodium oxybate was ineffective causing vivid dreams and hallucinations. Venlafaxine was subsequently added, initially controlling his cataplexy, but lost efficacy, warranting a trial of duloxetine, also ineffective. He was then started on solriamfetol, which improved sleepiness. We attempted to enroll him in a clinical trial of Reboxetine, thereby discontinuing duloxetine; severe OSA disqualified him from the trial. Subsequently, status cataplecticus ensued, leading to abolished reflexes and multiple falls. Clomipramine 100mg and Modafinil 200mg was started, reportedly reducing the frequency of cataplexy to 12 episodes daily. Conclusion Our case is notable because of the challenges working through the differential of drop attacks, and his late onset of severe NT1. One suggestion is an associated functional component to the disease could be involved, and though the diagnosis is solid, an additional functional overlay, or his joking personality, render symptom control unusually difficult. This case illustrates complexities of some cases with late-onset NT1. Support (if any)

Cardiac rhythmicity and burstiness are major characteristics of neuronal firing in medullary autonomic networks across sleep-wake states in freely moving rats

Cardiac rhythmicity is a hallmark of the autonomic control system from its sensory inputs all the way to sympathetic efferent nerve discharge directed to the heart and vasculature. Neuron firing in brainstem networks, essential in this control, was studied in great detail under anesthesia but recordings of sympathetic-related neuron firing in freely moving animals remain extremely scarce. We have shown recently [1], that such recordings are possible to perform in freely behaving rats and reported that the pattern of neural activity adheres to the basic principles of organization proposed earlier [2] based on data collected within the constraints of anesthesia, decerebration, or head-restrain. Here we analyzed the firing of sympathetic-related neurons from these recordings over different arousal states. We hypothesized that the essential characteristics, such as rhythmicity and burstiness remain preserved during different sleep-wake states. To address this issue, 23 neurons recorded continuously during waking and sleep in 3 rats were selected. Electrocardiogram, cortical electroencephalogram, and neck muscle electromyogram were recorded along with simultaneous recordings of multiple single neurons using tetrode electrodes or fine wire bundles aimed at central autonomic structures in the medulla as described in [1]. Firing characteristics were analyzed in steady state segments of quiet waking (QW) and slow wave sleep (SWS) as well as during transient events in SWS and REM sleep. We found that steady state discharge of rhythmic bursts was dominant in both QW and SWS even though the average firing rate in the group decreased (from 12.6+1.6 to 7.4+1.3 spike/s) from wake to SWS. Quite remarkably, fluctuations in firing rate within and between QW and SWS were associated with a decrease in the number of bursts rather than the spike per burst ratio. On the other hand, phasic events, such as microarousal associated with transient muscle activity and tachycardia were associated with short (2-5 s) episodes of increase in firing rate characterized by relatively weak cardiac rhythmicity and increased synchronization within the network (i.e. between neurons detected on the same tetrodes).The results show that the study of multiple single neuron relationships in central sympathetic networks is a viable tool to explore autonomic control mechanisms and we emphasize the importance of neural control of cardiovascular adjustments in complex behaviors, including stress, exercise, arousal, sleep-wake states, and different tasks.[1] Kocsis, B.; Topchiy, I., Rhythmic firing of neurons in the medulla of conscious freely behaving rats: rhythmic coupling with baroreceptor input. Pflugers Archiv: Eur J physiol 2022.[2] Barman, S. M., 2019 Ludwig Lecture: Rhythms in sympathetic nerve activity are a key to understanding neural control of the cardiovascular system. Am J Physiol Regul Integr Comp Physiol 2020. NIMH This is the full abstract presented at the American Physiology Summit 2023 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.

Phase 1 Safety and Pharmacodynamic Results of VRDN-001, a Full Antagonist Antibody to the Insulin-Like Growth Factor-1 Receptor (IGF-1R) in Development for Thyroid Eye Disease (TED) (P3-9.007)

<h3>Objective:</h3> Report the interim safety and pharmacodynamic (PD) results for healthy volunteers from a phase 1/2 clinical trial (NCT05176639) evaluating VRDN-001 intravenously administered at 3–20 mg/kg. <h3>Background:</h3> Clinical and preclinical studies have confirmed insulin-like growth factor-1 receptor (IGF-1R) antagonism can reduce the inflammation and proptosis that occur in Thyroid Eye Disease (TED). VRDN-001, a full antagonist antibody to the IGF-1R, is under development for the treatment of TED. <h3>Design/Methods:</h3> Adult healthy volunteers were randomized 3:1 to receive 2 intravenous infusions 3 weeks apart of either placebo or 3, 10, or 20 mg/kg VRDN-001. PD parameters (IGF-1 serum levels) and adverse events (AEs) were assessed up to 50 days. <h3>Results:</h3> Thirteen participants received VRDN-001 3 mg/kg (n=3), 10 mg/kg (n=3), 20 mg/kg (n=4), or placebo (n=3). Mean age was 49 years (range: 25–73) and 5 were female. All VRDN-001 doses elicited rapid, sustained, and similar increases in IGF-1 serum levels, a biomarker for IGF-1R inhibition. Following the first infusion, IGF-1 increased within a day, reaching 3–5-fold above baseline by Day 8. Increases were sustained until the second infusion, and then further increased to 5–7-fold above baseline (&gt;500 ng/mL), and sustained through Day 50. No increases in serum IGF-1 occurred for placebo. Eleven of the 13 participants experienced 19 AEs (16 mild and 3 moderate). Transient hypotension (10 mg/kg group) and muscle spasm (placebo group) were the only AEs to be deemed treatment-related by the masked investigator. No treatment-related hyperglycemia or hearing impairment was observed. <h3>Conclusions:</h3> VRDN-001 administered to healthy volunteers at 3–20 mg/kg indicated maximal target engagement at all doses and was generally safe and well-tolerated, with no observed treatment-related hyperglycemia or hearing impairment. Results from the ongoing evaluation of VRDN-001 dosed at 3–20 mg/kg in TED patients will further inform potential treatment regimens. <b>Disclosure:</b> Dr. She has received personal compensation for serving as an employee of Viridian Therapeutics. Dr. She has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Dianthus Therapeutics. Dr. She has stock in Viridian Therapeutics. Dr. Katz has received personal compensation for serving as an employee of Viridian Therapeutics. Dr. Katz has received stock or an ownership interest from Viridian Therapeutics. Mrs. Summerfelt has received personal compensation for serving as an employee of Viridian Therapeutics. An immediate family member of Mrs. Summerfelt has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Viridian Therapeutics. Mrs. Summerfelt has stock in Viridian Therapeutics. Dr. Oshaughnessy has received personal compensation for serving as an employee of viridian therapeutics. Dr. Oshaughnessy has stock in viridian therapeutics. Mr. Dickinson has nothing to disclose. Dr. Foster has received personal compensation for serving as an employee of Viridian Therapeutics. Dr. Bedian has received personal compensation for serving as an employee of Viridian Therapeutics. Dr. Bedian has received personal compensation for serving as an employee of Dianthus Therapeutics. Dr. Bedian has stock in Viridian Therapeutics. Dr. Bedian has stock in Astria Therapeutics.

Pregnancy during enzyme replacement therapy with alglucosidase alfa over a 14‐year period in late‐onset Pompe disease

AbstractWe report a female patient who developed Pompe disease at 15 years old and received enzyme replacement therapy (ERT) from 25 years old. After 14 years of treatment, she became pregnant. ERT was suspended during the organogenic period as a precaution and restarted at 15 weeks' gestation. During the pregnancy, there were no complications or respiratory problems, but transient muscle weakness was observed during the third trimester. The patient gave birth by vaginal delivery at 39 weeks' gestation. Eight months postpartum, her muscle weakness had recovered slowly, and the patient was able to stand up without help.

The sylvian keyhole approach forsurgical clipping of middle cerebral artery aneurysms: Technical nuance to the minipterional craniotomy.

The minipterional (MPT) craniotomy is a workhorse approach for clipping of middle cerebral artery (MCA) aneurysms. Because it aims to reach the skull base, traction on the temporal muscle is required. As a result, patients may suffer from transient postoperative temporal muscle discomfort. The sylvian keyhole approach (SKA) represents an alternative craniotomy for the clipping of MCA aneurysms. The aims of this study are to describe the operative technique of the SKA and to discuss the benefits and disadvantages compared to the MPT craniotomy. In this technical note, we report the experience gained with the SKA. This experience was acquired with virtual reality, 3D-printed models, and anatomical dissections. We also present two clinical cases. The SKA is centered on the distal sylvian fissure and tailored toward the specific MCA aneurysm. Traction to the temporal muscle is not necessary because access to the skull base is not sought. With the SKA, dissection of the MCA is performed from distal to proximal, aiming for a proximal control at the level of the M1-segment. The limen insulae was identified as a key anatomical landmark for approach selection. The SKA offers good surgical maneuverability when the aneurysm is located at the level or distal to the limen. The MPT craniotomy, however, remains the most appropriate approach when the aneurysm is located proximal to the limen. The SKA represents a feasible and innovative alternative approach to the MPT craniotomy for surgical clipping of unruptured MCA aneurysms located at the level or distal to the limen insulae.

Weakness of lower limb muscle in symptomatic peripheral artery disease with media sclerosis detected by ultrasound shear wave elastography.

Background: Symptomatic peripheral arterial disease (PAD) is difficult to non-invasively diagnose in the presence of calcified, media sclerotic arteries that are incompressible by blood pressure cuffs. Standard ankle-brachial index (ABI) measurements in these PAD patients are very often not helpful. Shear wave elastography (SWE) is a modern ultrasound technique to detect peripheral muscle stiffness changes i.e. muscle weakness during exercise. In a pilot study, we examined whether SWE could be a reproducible tool for diagnosing ischemic loss of muscle stiffness in patients with PAD and concomitant arterial media sclerosis. Patients and methods: N=13 consecutive patients with peripheral artery disease and media sclerosis were enrolled in the pilot study. All 13 patients were symptomatic in different stages of their PAD due to hemodynamically relevant arterial stenosis or occlusions of limb arteries as confirmed by oscillography, color-coded duplex sonography or angiography. Results: ABI measurements were invalid in all 13 patients. Mean SWE measurements of medial gastrocnemius muscles showed a significant transient muscle stiffness loss (weakness) at maximum exercise (active dorsal flexion of the foot, 103.4±25.9 kPa on the asymptomatic vs. 62.5±21.9 kPa on the symptomatic limb (p<0.001). Conclusions: SWE can reproducibly detect peripheral muscle weakness during exercise in the symptomatic leg of media sclerotic PAD patients. SWE of lower limb muscles may help to identify symptomatic PAD in patients presenting with invalid ABI measurements and unclear vascular status.

Clinical efficacy of oblique lumbar interbody fusion combined with unilateral pedicle screw fixation via Wiltse approach in the treatment of lumbar spinal stenosis

To evaluate the efficacy of oblique lumbar interbody fusion combined with unilateral pedicle screw fixation via Wiltse approach in the treatment of lumbar spinal stenosis. From July 2017 to January 2019, 90 patients with lumbar spinal stenosis, including 38 males and 52 females, aged from 43 to 75 years old with an average of(59.9±8.8) years old, and were treated with oblique lumbar interbody fusion(OLIF) combined with Wiltse unilateral pedicle screw fixation. Surgical decompression and fixation was performed in 50 cases of single segment, 32 cases of double segments and 8 cases of three segments. The distribution of responsible segments included 8 cases of L2-L3, 12 cases of L3-L4 and 30 cases of L4-L5 on single segment, 10 cases of L2-L4 and 22 cases of L3-L5 on double segments, and 8 cases of L2-L5 on three segments. The operation time, blood loss and occurrence of complications were recorded, Visual analogue scale(VAS), Oswestry Disability Index(ODI) and SF-36 scale were used to evaluate clinical efficacy. Lumbar X-ray and MRI were taken at three days after operation, interverterbral space height, intervertebral foraminal height, interverterbral foraminal area, and spinal canal area were measured, and interbody fusion was evaluated according to CT at half a year after operation. All patients were followed up from 12 to 33 months, with an average of (20.2±6.6) months. Mean operation time was (103.3±35.9) min, and mean intraoperative blood loss was (70.4±17.8) ml. VAS of low back pain leg pain, and ODI decreased from 6.2±1.1, 6.1±0.9 and (59.9±4.2)% to 2.7±0.5, 2.5±0.5 and (31.3±8.8)%. SF-36 scale significantly increased from (37.2±3.1) to (54.9±6.1) at the six months postoperation(P<0.05). The intervertebral space height, intervertebral foraminal height, intervertebral foraminal area, and spinal canal area were significantly improved at 3 days after operation(P<0.05). Six months after operation, CT scan showed well fusion in 87 cases, but 3 cases with poor fusion, including 1 case of single segment, 2 cases of multi-segments. The total fusion rate was 96.7% (87/90), the single segment fusion rate was 98.0% (49/50), and the multi-segments fusion rate was 95.0%(38/40). The overall incidence of complications was 17.8%(16/90), including transient iliopsoas muscle weakness in 5 cases (5.6%), endplate fracture in 2 cases (2.2%), peritoneal injury in 1 case (1.1%), postoperative hematoma in 1 case (1.1%), adjacent segment disease in 1 case(1.1%), and fusion cage subsidence in 6 cases (6.7%). Three patients was followed up for recurrent nerve root pain and the symptoms were relieved after revision operation. All complications were relieved or disappeared in varying degrees during the follow-up period, and there were no complications such as cage displacement and screw fracture. OLIF combined with unilateral pedicle screw fixation via Wiltse approach is effective in treating lumbar spinal stenosis with minimally invasive advantages such as less trauma and less complications. Under the premise of strictly grasping the indications, this method could also achieve satisfactory clinical results in multi-segments oprations.

Chest physiotherapy for pneumonia in adults.

Chest physiotherapy for pneumonia in adults.

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

BackgroundCongenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. To date, 32 genes were found to be involved in CMSs with autosomal dominant and/or recessive inheritance patterns. CMS with acetylcholinesterase deficiency, in particular, was determined to be due to biallelic mutations of COLQ gene with early-onset clinical signs. Here, we report clinical features and novel molecular findings of COLQ-related CMS in a Moroccan patient with a review of the literature for this rare form.Case presentationIn this study, we report the case of a 28-month-old Moroccan female patient with hypotonia, associated to axial muscle weakness, global motor delay, bilateral ptosis, unilateral partial visual field deficiency with normal ocular motility, and fatigable muscle weakness. Clinical exome sequencing revealed a novel homozygous deletion of exon 13 in COLQ gene, NM_005677.4(COLQ):c.(814+1_815-1)_(954+1_955-1) del p.(Gly272Aspfs*11). This finding was subsequently confirmed by quantitative real-time PCR (qPCR) in the proband and her parents. In silico analysis of protein-protein interaction network by STRING tool revealed that 12 proteins are highly associated to COLQ with an elevated confidence score. Treatment with Salbutamol resulted in clear benefits and recovery.ConclusionsThis clinical observation illustrates the important place of next-generation sequencing in the precise molecular diagnosis of heterogeneous forms of CMS, the appropriate management and targeted treatment, and genetic counseling of families, with a better characterization of the mutational profile of this rare disease in the Moroccan population.

Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.

Non-dystrophic myotonias (NDM) are rare skeletal muscle channelopathies, mainly linked to two voltage-gated ion channel genes, CLCN1 and SCN4A. The aim of this study is to identify the clinical and genetic features of patients with NDM in Japan. We collected a Japanese nationwide case series of patients with clinical diagnosis of NDM (1999-2021). Among 71 out of 88 pedigrees, using Sanger and next-generation sequencing targeting both CLCN1 and SCN4A genes, variants classified as pathogenic/likely pathogenic/unknown significance were detected from CLCN1 (31 probands), SCN4A (36 probands), or both genes (4 probands), and 11 of them were novel. Pedigrees carrying mono-allelic CLCN1 variants were more commonly seen than that with bi-allelic/double variants (24:7). Compared to patients with CLCN1 variants, patients harboring SCN4A variants showed younger onset age (5.64 ± 4.70years vs. 9.23 ± 5.21years), fewer warm-up phenomenon, but more paramyotonia, hyperCKemia, transient muscle weakness, and cold-induced myotonia. Haplotype analysis verified founder effects of the hot spot variants in both CLCN1 (p.T539A) and SCN4A (p.T1313M). This study reveals variants in CLCN1 and SCN4A from 80.7% of our case series, extending genetic spectrum of NDM, and would further our understanding of clinical similarity/diversity between CLCN1- and SCN4A-related NDM, as well as the genetic racial differences.

Efficacy and Side Effects of Irinotecan Combined with Nedaplatin versus Paclitaxel Combined with Cisplatin in Neoadjuvant Chemotherapy for Locally Advanced Cervical Cancer and Tumor Marker Analysis: Based on a Retrospective Analysis.

Objective A case-control study was adopted to investigate the efficacy and side effects of irinotecan combined with nedaplatin (NP) versus paclitaxel combined with cisplatin for locally advanced cervical cancer (CC) neoadjuvant chemotherapy (NACT) and to analyze the changes in tumor marker levels. Methods A total of 96 patients with locally advanced CC who were treated from October 2019 to October 2021 were enrolled in our hospital as the research subjects, and their clinical data were collected for retrospective analysis and grouped according to their treatment regimens. Among them, 53 patients received paclitaxel combined with cisplatin as the control group, and the other 43 patients received irinotecan combined with NP as the observation group. The clinical effectiveness of neoadjuvant chemotherapy and alterations in tumor markers (CEA, AFP, CA125, and SCCA) were compared between the two groups. The incidence of common chemotherapy side effects was observed and compared between the two groups, including nausea and vomiting, abdominal pain and diarrhea, liver function impairment, bone marrow suppression, transient hyperglycemia, rash, ECG abnormalities, peripheral neurotoxicity, and muscle aches and pains. Results The clinical efficiency of neoadjuvant chemotherapy was 97.67% in the observation group and 81.13% in the control group, with no statistically significant difference between the groups (P > 0.05). There was no significant difference in CEA, AFP, and CA125 between the two groups before and after chemotherapy, but the decrease of SCCA before and after chemotherapy was statistically significant. There was no significant difference in the incidence of liver function damage, myelosuppression, abnormal ECG, and rash between the two groups (P > 0.05). There are statistically significant differences in the incidence of nausea and vomiting, transient hyperglycemia, peripheral neurotoxicity, and muscle aches between the observation and control groups (P < 0.05). The incidence of nausea and vomiting, transient hyperglycemia, peripheral neurotoxicity, and muscle aches was higher in the control group than in the observation group, with statistically significant differences (P < 0.05). The difference in the incidence of diarrhea and abdominal pain between the observation group and the control group was statistically significant (P < 0.05), and the incidence of diarrhea and abdominal pain in the observation group was higher than that in the control group. Conclusion Irinotecan in combination with nedaplatin can be an effective neoadjuvant chemotherapy regimen for advanced localized cervical cancer, particularly in patients with combined diabetes.

Short-term effectiveness of high-load compared with low-load strengthening exercise on self-reported function in patients with hypermobile shoulders: a randomised controlled trial

ObjectivesTo investigate the short-term effectiveness of high-load versus low-load strengthening exercise on self-reported function in patients with hypermobility spectrum disorder (HSD) and shoulder symptoms.MethodsA superiority, parallel-group, randomised trial (balanced block...

Infantile transient smooth muscle contraction of the skin

Infantile transient smooth muscle contraction of the skin