Hemiparetic Research Articles

All Trans Retinoic Acid: A Cerebral Friend or Foe? (P3-5.002)

<h3>Objective:</h3> NA <h3>Background:</h3> All-trans retinoic acid (ATRA) is an initial treatment for acute promyelocytic leukemia (APL). Studies suggest that ATRA has neuroprotective effects since it reduces atherosclerosis and neural inflammation. We present a case series of patients that developed acute recurrent ischemic strokes and demonstrated rapid progression of intracranial and extracranial stenosis in the setting of ATRA therapy. <h3>Design/Methods:</h3> NA <h3>Results:</h3> <h3>Case 1:</h3> A 47-year-old female with a history of hypertension presented with symptoms concerning for myocardial infarction, deep venous thrombosis, and thrombocytopenia which led to a diagnosis of APL. She was treated with ATRA and two days later developed left gaze deviation, facial droop, and left hemiparesis. Vessel imaging revealed a right middle cerebral artery (MCA) occlusion. Despite successful thrombectomy, the patient continued to decline. Repeat imaging showed re-occlusion of the right MCA as well as a new left MCA infarct. She later developed diffuse cerebral edema and fatal herniation. <h3>Case 2:</h3> A 41-year-old female with a history of hypertension and APL treated with ATRA had multiple recent strokes involving bilateral frontal, left occipital and watershed territories. Vessel imaging during the first admission did not show any stenosis. Over the course of the next seven months, she had multiple admissions for recurrent strokes with rapid progression and worsening of her intracranial stenosis despite dual antiplatelet and statin therapy. Cerebrospinal fluid analysis including cell count, protein, cytology and flow cytometry was unremarkable. She subsequently developed extensor posturing with paraparesis due to malignant cerebral edema and died. <h3>Conclusions:</h3> The underlying mechanism of accelerated vessel stenosis in the above cases is unknown. Further research should explore whether ATRA use in APL is indeed associated with the progression and/or poor clinical outcomes in the setting of acute ischemic stroke. Clinicians should remain vigilant about the concomitant use of ATRA in patients with a history of vascular risk factors. <b>Disclosure:</b> Mannyam, MD (Jackson, MS); Maryam

A Case of Pantothenate Kinase-Associated Neurodegeneration (PKAN) in a Patient with One Known Pathologic Variant and One Variant of Unknown Significance (P11-4.006)

<h3>Objective:</h3> Raise interest in the possibility of an unidentified PANK2 gene mutation in the pathogenesis of PKAN <h3>Background:</h3> Pantothenate kinase-associated neurodegeneration (PKAN), previously known as Hallervorden-Spatz Disease, is a neurodegenerative disorder associated with brain iron deposition. PKAN follows an autosomal recessive inheritance pattern and presents in childhood (classical) or around the second decade of life (atypical). Individuals with PKAN typically present with dysarthria, dystonia, speech difficulties, and extrapyramidal symptoms. PKAN has a characteristic “eye of the tiger” sign on MRI with hypointensity of the globus pallidus surrounded by an area of hyperintensity. Pantothenate kinase 2 (PANK2) gene sequencing changes have been identified as markers of PKAN. <h3>Case Description:</h3> The patient discussed is a 27-year-old woman who presented in 2013 for abnormal posturing and cramping of her hands and feet since she was four. Based on the patient’s physical exam, it was believed she was suffering from young-onset Parkinson’s disease or dystonia. However, a trial of Levodopa resulted in no improvement, genetic testing for dystonia was negative, and her brain MRI was read as normal. Due to worsening symptoms, her MRI was reassessed, and the subtle “eye of the tiger” sign was recognized. Further genetic testing showed she was a carrier for two heterozygous PANK2 mutations, one known pathologic variant and one unknown. The patient elected to join a clinical trial as her symptoms progressed. Nine years since presenting, she has completed two clinical trials and is currently on Deferiprone (an iron chelator), Artane, and Baclofen for symptom management. <h3>Design/Methods:</h3> NA <h3>Results:</h3> NA <h3>Conclusions:</h3> This report discusses a patient with PKAN who has one PANK2 mutation of known significance and one unknown variant. Considering PKAN is an autosomal recessive disease, this report suggests a novel PANK2 pathogenic variant. This study also demonstrates how the diagnosis of PKAN can be easily missed due to subtle MRI changes. <b>Disclosure:</b> Dr. Cevallos has nothing to disclose. Miss Rubin has nothing to disclose. Miss Rhinehart has nothing to disclose. Dr. Houghton has nothing to disclose.

Lingual dystonia secondary to medication use: a review of case reports (P12-11.004)

<h3>Objective:</h3> The aim of our study was to determine which drugs cause secondary lingual dystonia. <h3>Background:</h3> Lingual dystonia is a type of focal movement disorder characterized by tongue muscles involuntary contractions or abnormal postures maintenance. It can be primary or secondary to a number of conditions, including trauma, autoimmune diseases, viral infections, and medication use. Even though there are many case reports about lingual dystonia secondary to drugs, there is no review, to our knowledge, about the most common drugs causing it. <h3>Design/Methods:</h3> A search was performed by the authors in the PubMed/Medline database. The descriptor used was “lingual dystonia”, and no filters were applied. All of the articles found had their abstract read. Exclusion criteria were articles that did not specify the clinical features of lingual dystonia, that did not expose data clearly separating tongue dystonia from other types, and studies that did not analyze lingual dystonia secondary to medication use. <h3>Results:</h3> Forty-two subjects from 39 case-reports matched our inclusion criteria. The mean age was 39.42 years old (± 20.36; ranging from 6 to 80), and the female to male ratio found was 25:17. Haloperidol (7) and metoclopramide (7) were the two medication most correlated with lingual dystonia, followed by multiple antipsychotics associations (5), risperidone (3), ziprasidone (3), chloroquine (2), lithium (1), levodopa (1), perphenazine (1), cisapride (1), primozide (1), betahistine (1), nitric oxide (1), propofol (1), meperidine (1), compazine (1), methotrimeprazine (1), cyclizine (1), aripiprazole (1) general anesthetics (1) and antidepressants (1). <h3>Conclusions:</h3> The findings of this review suggest antipsychotics and anti-emetic medication are the leading causes of lingual dystonia secondary to medication. Age and sex appear not to be a predisponent factor. Further studies may be helpful to evaluate influence of dosage in symptoms occurrence. <b>Disclosure:</b> Miss Duarte has nothing to disclose. Dr. Teive has nothing to disclose.

Periprocedural Cerebral Air Embolism; A Rare and Potentially Fatal Complication of Watchman Device (P3-5.028)

<h3>Objective:</h3> To study peri-procedural complications of Watchman device placement. <h3>Background:</h3> Left atrial appendage therapy with a Watchman device is a non-inferior ischemic stroke prevention strategy for patients with paroxysmal atrial fibrillation (pAF) deemed to be unsuitable for conventional anticoagulation. Peri-procedural air embolism is a known complication and can present with systemic emboli provoking ischemic strokes, coronary ischemia, or cardiac arrest. The PROTECT AF trial specifically documented 5 peri-procedural strokes out of 542 total procedures due to air embolism. We present two cases of periprocedural cerebral emboli resulting in potentially fatal complications. <h3>Design/Methods:</h3> Retrospective review of electronic medical records. <h3>Results:</h3> 81year old gentleman was noted to have acute change of decreased generalized responsiveness, and concomitant electrocardiographic change during Watchman deployment. Rapid reversal of anesthetic agents did not result in clinical improvement. Neurological exam showed asymmetric pupils, L&gt;R, and initially withdrew on all four extremities with rapid progression to flexor posturing to noxious stimulus. CT stroke protocol demonstrated an area of acute infarction in the right middle cerebral artery territory, associated with air in sulci. He required transfer to another facility for hyperbaric oxygen treatment. Follow up CT scan of head demonstrated complete resolution of air emboli, however his neurologic exam remained poor, and patient expired during hospital admission. <h3>Case 2:</h3> 61year old gentleman presented with periprocedural acute onset of right gaze deviation, left facial droop, left sided paralysis, sustained clonus, and left sensory deficit. CT stroke protocol showed hypodensity in the right MCA territory with air in sulci. He was transferred for hyperbaric oxygen therapy. After protracted rehabilitation, he lives independently with residual left sided weakness. <h3>Conclusions:</h3> Air embolism remains an under-recognized potentially fatal complication of Watchman device placement. These cases indicate the need to recognize air emboli as an etiology of periprocedural stroke requiring a unique treatment strategy including a framework for expedited hyperbaric access. <b>Disclosure:</b> Dr. Peshwe has nothing to disclose. Dr. Munir has nothing to disclose. Dr. Hatfield has nothing to disclose. The institution of an immediate family member of Dr. Adcock has received research support from NIH.

Extended Application of Inertial Measurement Units in Biomechanics: From Activity Recognition to Force Estimation.

Abnormal posture or movement is generally the indicator of musculoskeletal injuries or diseases. Mechanical forces dominate the injury and recovery processes of musculoskeletal tissue. Using kinematic data collected from wearable sensors (notably IMUs) as input, activity recognition and musculoskeletal force (typically represented by ground reaction force, joint force/torque, and muscle activity/force) estimation approaches based on machine learning models have demonstrated their superior accuracy. The purpose of the present study is to summarize recent achievements in the application of IMUs in biomechanics, with an emphasis on activity recognition and mechanical force estimation. The methodology adopted in such applications, including data pre-processing, noise suppression, classification models, force/torque estimation models, and the corresponding application effects, are reviewed. The extent of the applications of IMUs in daily activity assessment, posture assessment, disease diagnosis, rehabilitation, and exoskeleton control strategy development are illustrated and discussed. More importantly, the technical feasibility and application opportunities of musculoskeletal force prediction using IMU-based wearable devices are indicated and highlighted. With the development and application of novel adaptive networks and deep learning models, the accurate estimation of musculoskeletal forces can become a research field worthy of further attention.

Axial Postural Abnormalities in Parkinsonism: Gaps in Predictors, Pathophysiology, and Management.

Axial Postural Abnormalities in Parkinsonism: Gaps in Predictors, Pathophysiology, and Management.

Spondyloepipheseal dysplasia tarda

Skeletal disorders are common entities that we encounter in our daily practice. Their early diagnosis is key to proper management and genetic counselling. Spondyloepiphyseal dysplasia is one such disorder. It is a genetic bone deformity that affects the spine, proximal epiphysis and pelvis. The disease is either manifested at birth or during adolescence therefore given the terms SED congenita or SED tarda. Patients with SED present with variable features including short height, short neck, club foot, cleft palate, kyphoscoliosis or lordotic abnormalities. We also present a case of an 11-year-old boy who presented to us with complaints of stunted growth and abnormal posture and underwent radiological imaging.

Abstract CT025: NMS-03592088, a novel, potent FLT3, KIT and CSF1R inhibitor with activity in FLT3 positive acute myeloid leukemia patients with prior FLT3 inhibitor experience

Abstract Background: FLT3 mutations occur in approximately 30% of AML patients and are associated with aggressive disease. Despite the approval of midostaurin and gilteritinib, the prognosis for FLT3+ patients with relapsed or refractory disease is poor. NMS-088 is a novel, potent FLT3, KIT and CSF1R inhibitor with superior preclinical activity compared with approved FLT3 inhibitors in different FLT3-driven models. In addition, NMS-088 is active on FLT3 resistance mutation F691L. Dose escalation results from a Phase I/II study to establish safety, dose selection and preliminary clinical activity for NMS-088 in patients with R/R AML and CMML are described. Methods: In the Phase I 3+3 escalations, NMS-088 is administered daily for 21 of 28 days (schedule A) or continuously (schedule B). Patients must have R/R AML or CMML unsuitable for standard therapy. The primary objective is the MTD or MAD as assessed by DLTs. Secondary endpoints include safety, PK and ELN response. Results: as of January 26, 44 R/R AML or CMML patients were treated at doses from 20 to 360 mg/day in A or from 120 to 250 mg/day in B. Median age was 64 yrs, 41 pts had AML and 3 pts had CMML, median number of prior lines was 2 (range 1 to 10). FLT3 mutations were present in 24 out of 41 AML pts (20 FLT3-ITD, 2 FLT3 D835 and 2 FLT3-ITD and D835). The majority of pts with FLT3+ AML had received prior FLT3 inhibitors (86.4%). NMS-088 showed manageable safety with no MTD characterized. One pt had DLT (abnormal posture, decreased activity, dyspnea G3 and eyelid ptosis G1) at 360 mg in A (at day 21) and one pt had DLT (eyelid ptosis G3) at 180 mg in B (at day 29), both suggestive for myasthenic syndrome. Three additional pts experienced possible myasthenic syndrome at doses ≥ 180 mg. Overall the most frequent treatment emergent related adverse events (≥10%) were nausea (any grade 20.5%), vomiting (13.6%), asthenia (11.4%). Discontinuations due to related AEs were as follows: 2 DLT pts per protocol, 2 pts due to nausea (G1; day 161 at 270 mg) and myasthenia gravis (G3; day 39 at 300 mg in a pt with baseline AChR antibodies). There was a dose-dependent trend for response. A total of 5 out of 12 evaluable pts with FLT3+ AML treated at dose ≥ 300 mg achieved a response with 2 CRi, 1 CRi/MLFS and 2 MLFS. Remarkably, all these pts had received prior midostaurin and 2 pts received both midostaurin and gilteritinib. Two pts with response withdrew from treatment to receive HSCT (DoR 1.0+ mos each). For other responding pts DoR was 1.3, 2.8 and 7.9 mos. Conclusions: NMS-088 showed clinical efficacy in pts with FLT3+ R/R AML, including pts who have failed prior FLT3 inhibitors. Together with the manageable safety observed, these results warrant further development of this drug including potential as a novel valuable therapeutic option for pts who have exhausted available treatments. The trial is currently opened for enrollment (NTC03922100). Citation Format: Antonio Curti, Alessandro Rambaldi, Chiara Cattaneo, Roberto Cairoli, Matteo Della Porta, Patrizia Chiusolo, Federico Lussana, Marta Ubezio, Valentina Mancini, Isabel Cano, Carmen Besliu, Christian Hove Claussen, Rosalinda Gatto, Patrizia Crivori, Elena Colajori, Alessio Somaschini, Cristina Davite, Antonella Isacchi, Elena Ardini, Lisa Mahnke, Pau Montesinos. NMS-03592088, a novel, potent FLT3, KIT and CSF1R inhibitor with activity in FLT3 positive acute myeloid leukemia patients with prior FLT3 inhibitor experience [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 2 (Clinical Trials and Late-Breaking Research); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(8_Suppl):Abstract nr CT025.

Evaluating nutrition, physical development and morbidity in primary school-aged children

Aim. To explore the relationship of physical development and nutrition pattern in primary school-aged children.Materials and methods. 266 children have been examined for three years by means of the continuous sampling method. In order to study nutrition patterns, the questionnaire method was applied to the parents. Physical development was evaluated according to main anthropometric indicators with the identification of somatotype and degree of harmonious development. Morbidity was studied by extracting data from individual development histories.Results. The nutrition of primary schoolers is marked by a prevalence of carbohydrates, while the amount of protein and calcium-containing products is insufficient. The physical development is disharmonious in most cases, due to underweight (82% of children) and excess weight (8%). 24% of children have a postural abnormality, 15% – caries, 3% – endemic goiter, 45% suffer acute respiratory infections more than 4 times a year.Conclusions. Nutrition patterns in primary school-aged children are characterized by unbalanced diet, which contributes to disharmonious development and decreases stamina.

Video enhanced visual analysis of hemiparetic gait muscle selection: A pilot study

This paper summarizes the use of video enhanced visual analysis (VEVA) as a muscle selection assistance method for abnormal foot postures in adults with upper motor neuron syndrome (UMNS) treated with botulinum neurotoxin (BoNT-A) in a real-world setting.This pilot study used a prospective treatment study design with persons in an outpatient, rehabilitation hospital. Participants had acquired brain injury (ABI) of >6-month duration who had a spastic ankle foot deformity amenable to treatment with botulinum toxin A and able to independently ambulate a minimum of 10 m. Participants were evaluated before abobotulinumtoxinA injection (500 U–1500 U) to the identified lower limb muscles and four to five weeks post injection. Main Outcome Measures: Temporal spatial data (self-selected and maximal walking velocities (SSWV/MWV); step length and stance time); Modified Ashworth Scale (MAS); Tardieu Scale (TS) and ankle Passive Range of Motion (PROM) change from baseline to follow-up (f/u).Data is presented on ten of the eleven consecutive participants enrolled in the study. One participant withdrew due to study unrelated opposite ankle pain before reassessment. Mean SSWV increased post treatment by 21% in the barefoot condition and 8% when walking with shoes. For the MWV condition, there was a 15% mean increase post treatment in the barefoot condition and 10% when walking with shoes. Participants showed improved symmetry in step length and stance time in both post-treatment walking conditions. Ankle MAS and TS improved with knee flexed or extended. Ankle PROM increased post treatment with knee flexed by 8° and knee extended by 11.7°. VEVA in addition to clinical evaluation appears to facilitate muscle identification and selection of ankle deformities for treatment with BoNT-A. Our findings show marked improvement in ankle MAS, TS and PROM as indicators of pharmacological activity and increase in SSWV as a marker of functional improvement.

Fasting Dependent Paroxysmal Exercise Induced Dystonia as Presenting Symptom in PRKN Type of Parkinson's Disease.

Paroxysmal exercise-induced dystonia (PED) can occur as a symptom of early-onset Parkinson's disease (EOPD), Dopa-responsive dystonia (DRD), or Glut1 deficiency syndrome (Glut1DS). Red flags of PED in Glut1DS include influence of diet, while diurnal fluctuations are characteristic for DRD.1 A 22-year-old White-European man presented with a 5-year history of paroxysmal involuntary movements of his left foot. Past medical history and family history were unremarkable without known consanguinity. At the age of 17 (BMI 38 kg/m2), he started a diet and regular physical exercise and lost 35 kg weight. After approximately 30 min of physical exercise, he occasionally noticed mild and involuntary abnormal posturing of his left foot. Symptoms only occurred in the evening or after fasting. Since then, symptoms have worsened, and abnormal movements started after 15 min of exercise in the morning and after 5 min in the evening or when fasting. Recently, he also noticed a mild tremor and clumsiness of his right hand. Physical examination revealed mild rigidity of neck and extremities, mild resting tremor of the right hand and mild bradykinesia of upper and lower limbs (right dominant). He had reduced arm swing, but otherwise walking was unremarkable (see Video 1). After 10 min of running, he developed dystonia of his left foot (see Video 2), which ceased shortly after resting. A 3-Tesla-MRI of the brain, CSF/serum fasting glucose ratio and a metabolic panel including blood/CSF amino acids and neurotransmitters were unremarkable. A (123)I-Ioflupane single-photon emission computed tomography was abnormal. A genetic panel including known genes causing EOPD, DRD and Glut1DS was ordered. Both next generation sequencing and exon-specific PCR detected a homozygous deletion of exons 2–4 of the PRKN gene. Levodopa/benserazide 50/12.5 mg QID led to marked improvement of parkinsonian symptoms and PED. To the best of our knowledge, this is the first reported case of the PRKN type of EOPD featuring PED with marked diurnal fluctuation and worsening with fasting as presenting symptom. In 16% of PRKN mutation carriers symptoms start in adolescence.2 Initial foot dystonia, in some cases induced by exercise,1, 3 and diurnal fluctuation are recognized features.4 However, symptom provocation by fasting is a novel finding. The products of several PD-associated genes including PRKN have important roles in mitochondrial biology and fasting induces an upregulation of protein markers of mitophagy. Our patient noticed remission of PED with regular carbohydrate intake. A low protein-to-carbohydrate ratio has been shown to increase lifespan, motor ability and mitochondrial function in a PRKN mutant Drosophila model of PD,5 providing a potential pathophysiological link to our finding. A deletion of exons represents the most common mutation of the PRKN gene; deletions of exons 2–4 are classified as definitely pathogenic.2 Another reported case presenting with juvenile-onset PED had a deletion of exon 4.3 Worsening with fasting was neither described in a published case series4 nor in patients with deletions of exons 2–4 of the PRKN gene within the MDS gene database. In conclusion, diurnally fluctuating PED that worsens with carbohydrate restriction may be the presenting symptom in the PRKN type of EOPD. We would like to thank our patient for giving us the opportunity to publish this case report. We also thank Johann Semmler-Bruckner for his assistance in genetic analyses and database research. 1. Research project: A. Conception, B. Organization, C. Execution; 2. Data Collection: A. Clinical Assessment, B. Genetic Analysis, C. Literature Review; 3. Manuscript Preparation: A. Writing of the first draft, B. Review and Critique. L.G.: 1B, 1C, 2A, 2C, 3A C.W.: 1B, 1C, 2B, 3B P.K.W.: 1B, 1C, 2A, 3B P.S.: 1A, 1B, 1C, 2A, 2C, 3B Ethical Compliance Statement: No formal approval by an ethics committee was required; the Journal's Ethical Publication guidelines and the Declaration of Helsinki were followed. Informed written consent on video acquisition and case publication was obtained from the patient using our standardized patient's video consent form. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. Funding Sources and Conflicts of Interest: No specific funding was received for this work. The authors declare that there are no conflicts of interest relevant to this work. Financial Disclosures for Previous 12 Months: L. Gattermeyer, C. Windpassinger and P. Katschnig-Winter declare that there are no additional disclosures to report. P. Schwingenschuh reports personal fees from Bial.

Prevalence and Factors Associated With Postural Abnormalities in Male Students of Tehran Universities: A Cross-sectional Study

Purpose: Postural abnormalities, such as forward head posture (FHP), posterior kyphosis, and lumbar lordosis, can lead to discomfort and health problems. This cross-sectional study was conducted to investigate the prevalence of these abnormalities and their association with age, body mass index (BMI), and physical activity among male students of Tehran universities. Methods: A cross-sectional study was conducted on 400 students of Tehran University of Medical Science to evaluate the relationship between postural abnormalities and associated factors. Participants’ demographic data and physical activity levels were collected using questionnaires, and spinal curvature was assessed using a spinal mouse device and photogrammetry. Statistical analysis was performed using IBM SPSS software, version 22, and a Pearson correlation coefficient was used to examine the relationship between variables. Results: The study revealed a high prevalence of postural abnormalities, with FHP being the most prevalent (84.5%), followed by lumbar lordosis (79.8%), and posterior kyphosis (34.7%). Factors, such as age, BMI, waist-to-hip ratio, and physical activity were significantly associated with the occurrence of postural abnormalities. Conclusion: A study on male university students showed that FHP, posterior kyphosis, and lordosis are common postural abnormalities with varying degrees of occurrence. FHP was the most prevalent type of abnormality. Age and BMI were correlated with the prevalence of postural abnormalities, and kyphosis was more common among younger students. BMI was also significantly related to the prevalence of postural abnormalities, and physical activity was associated with the prevalence of FHP.

Efficacy of Nesting on Physiological Parameters among Preterm Babies Admitted at Tertiary Care Hospital Karad

Background: Preterm babies have immature physical growth and unstable physiology. Inability to cope up to external stress. They frequently have improper muscular tone due to infancy, which puts them at risk of having abnormal posture. Nesting provides physiological, cognitive and postural stability, comfort and helps preterm infants maintain their posture. Objective: To assess physiological parameters among control group and experimental group, to evaluate the effectiveness of nesting on physiological parameters in preterm babies and to find an association between physiological parameters with selected sociodemographic variables. Materials and Methods: An evaluative research approach with a systematic random sampling technique, 60 preterm babies were selected (30 experimental group and 30 control group) from Krishna Hospital and Medical Research Center, Karad. Experimental pretest–posttest control group design was used. Data were collected by using observational checklist. Results: Unpaired t-test results revealed that the calculated t value of physiological parameters in posttest comparing between the experimental and control group shows that 5 days of nesting has stabilized the physiological parameters and was found statistically significant at P &lt; 0.05, i.e., temperature t = 4.917, heart rate t = 2.283, respiration t = 2.676 and SpO2 saturation t = 10.940. In weight, the calculated t = 0.8653 and found no statistically significant at P = 0. 3904. Conclusion: Study concluded that nesting was effectively stabilizing the physiological parameters of preterm babies (temperature, heart rate, respiration rate, SpO2, and weight).

Estimation of Spinal Muscle Performance in Work From Home Information Technology Professionals of Karad, India in 2021.

It is seen that information technology (IT) professionals are at higher risk of developing mechanical low back pain due to numerous factors such as a sedentary lifestyle, attaining inappropriate posture for a prolonged period of time, work stresses, and inadequate exercise which lead to overload on the back musculature. Working from home has become the new normal for these professionals in which they attain abnormal posture which leads to pressure on the muscles and thus there is a need to estimate and analyze spinal muscle performance among IT professionals. Our main objectives were to estimate the spinal muscle performance in work-from-home IT professionals of Karad and to find the association between spinal muscle performance with respect to age, gender, and body mass index (BMI). Depending on inclusion and exclusion criteria, 120 IT professionals working from home were selected for this study by simple random sampling. Written consent was taken and a detailed outcome assessment was done by using the static and dynamic abdominal test, extensor test, internal/external oblique test, and back rotators test. Also, functional performance was measured using the back performance scale. SPSS version 20 was used to carry out the analysis of data and results were obtained. In participants of sample size 120 (100%), 27 (26%) were normal, 30 (32%) good, 24 (20%) fair, 21 (14%) poor, 18 (8%) trace; whereas, static extensor strength was 16 (12%) normal, 9 (18%) good, 24 (28%) fair, 18 (36%) poor, 3 (6%) trace. For oblique's, static strength was 10 (20%) normal, 12 (24%) good, 15 (30%) fair, 9 (18%) poor, 4 (8%) trace; whereas, for back rotators strength was 10 (20%) normal, 17 (34%) good, 15 (30%) fair, 8 (16%) poor. The mean number of repetitions for the dynamic endurance test for extensors was 11, for abdominals wase 24 and for obliques was 12. A back performance scale was found with a minimum score of 6 and a maximum score of 11 for activity limitation. There was statistically significant found to be between spinal muscle performance and age (P = 0.041), BMI (P = 0.027). In this study it was found that spinal muscle performance was decreased in IT professionals. It was concluded that there was a significant reduction in static extensor performance compared to static abdominal muscle performance. Also, the spinal muscle performance of extensors was less as compared to that of abdominals. The data also revealed that there was a remarkable association that was seen between spinal muscle performance and age as well as spinal performance and BMI.

Effects of simulated trunk flexion contracture on the margin of stability during obstacle crossing in elderly individuals

BackgroundTrunk flexion contracture is an abnormal posture in elderly individuals with lumbar kyphosis. It is unclear whether this posture affects locomotor stability (margin of stability [MoS]) during obstacle crossing, which is a common trigger for falls in elderly people. Research questionDoes trunk flexion contracture negatively affect MoS during obstacle crossing in elderly people? MethodsTen healthy elderly individuals performed five trials of obstacle crossing using a comfortable speed under two experimental conditions, namely, with (FLEX) or without (NORMAL) a hard lumbar brace to simulate trunk flexion contracture. The obstacle-crossing motion was captured using an optical motion analysis system in order to calculate the MoS in the anteroposterior direction. The MoS at initial contact (IC) and that when the swing foot was above the obstacle (Obs) was compared between FLEX and NORMAL. A greater MoS suggests greater risk of a forward fall. The trunk and lower limb joint angles were measured at Obs. ResultsFLEX significantly increased the MoS at IC, whereas the MoS at Obs did not differ between the two conditions. FLEX demonstrated a crouch posture characterized by an increased flexion angle of stance-side hip and knee joints at the Obs instant. SignificanceForward fall chance might be increased at IC in obstacle crossing with trunk flexion contracture. Meanwhile, the MoS at Obs might be controlled by increasing the crouch posture to offset a forward shift in the CoM position due to the trunk flexion. Because the risk of a stumble on an obstacle and of forward falls should be higher at Obs than at IC, the crouch posture seems to be an effective adaptation that enables elderly people with trunk flexion contracture to safely cross obstacles.

Sex impacts pain behaviour but not emotional reactivity of lambs following ring tail docking.

Studies in humans have shown sex differences in response to painful events, however, little is known in relation to sex differences in sheep. Understanding sex differences would enable improved experimental design and interpretation of studies of painful procedures in sheep. To examine sex differences in response to pain, 80 lambs were tested across five cohorts of 16. The lambs were penned in groups containing two male and two female lambs with their respective mothers. Lambs were randomly allocated from within each block to one of four treatment groups; FRing-Female lamb, ring tail docked without analgesia, MRing-Male lamb, ring tail docked without analgesia, FSham-Female lamb, tail manipulated and MSham-Male lamb, tail manipulated. Following treatment, lambs were returned to their pen and were video recorded for 45 mins for behavioural observations of acute pain and posture. An hour after treatment, lambs then underwent an emotional reactivity test that consisted of three phases: Isolation, Novelty and Startle. Following treatment, Ring lambs displayed more abnormal postures (mean = 2.5±0.5) compared to Sham lambs (mean = 0.05±0.4, P=0.0001). There was an effect of sex on the display of acute pain-related behaviours in lambs that were tail docked (P<0.001), with female lambs displaying more acute behaviours (mean count = +2.2). This difference in behaviour between sexes was not observed in Sham lambs. There was no effect of sex on display of postures related to pain (P=0.99). During the Novelty and Startle phase of the emotional reactivity test, Ring lambs tended to (P=0.084) or did (P=0.018) show more fear related behaviours, respectively. However, no effect of sex was observed. The results of this study indicate that a pain state may alter the emotional response of lambs to novel objects and potential fearful situations. It was also demonstrated that female lambs display increased sensitivity to the acute pain caused by tail docking compared to males.

O-GlcNAcylation Is Required for the Survival of Cerebellar Purkinje Cells by Inhibiting ROS Generation.

Purkinje cells (PCs), as a unique type of neurons output from the cerebellar cortex, are essential for the development and physiological function of the cerebellum. However, the intricate mechanisms underlying the maintenance of Purkinje cells are unclear. The O-GlcNAcylation (O-GlcNAc) of proteins is an emerging regulator of brain function that maintains normal development and neuronal circuity. In this study, we demonstrate that the O-GlcNAc transferase (OGT) in PCs maintains the survival of PCs. Furthermore, a loss of OGT in PCs induces severe ataxia, extensor rigidity and posture abnormalities in mice. Mechanistically, OGT regulates the survival of PCs by inhibiting the generation of intracellular reactive oxygen species (ROS). These data reveal a critical role of O-GlcNAc signaling in the survival and maintenance of cerebellar PCs.

Effectiveness of modified inferior oblique muscle belly transposition for V-pattern exotropia combined with mild to moderate inferior oblique muscle overaction.

To investigate the effectiveness of a modified inferior oblique muscle belly transposition for treatment of V-pattern exotropia combined with mild to moderate inferior oblique muscle overaction. Thirteen cases (23 affected eyes) of V-pattern exotropia with inferior oblique muscle overaction (+ or ++) who underwent the modified inferior oblique muscle belly transposition procedure were retrospectively reviewed. The amount of V-pattern, grade of inferior oblique overaction, degree of vertical strabismus, abnormal head posture, and the fovea-disc angle were evaluated before and after surgery. The V-pattern was corrected in all cases, and the amount of V-pattern reduced by 17.85±5.13 prism diopter (PD) on average (t=16.07, P<0.001). The surgical cure rate for mild to moderate inferior oblique muscle overaction was 87.0% (20/23). The degree of the fovea-disc angle has a mean reduction of 5.45°±2.87° (t=3.95, P=0.003) after surgery. The mean vertical deviation in 5 cases with a small-angle hypertropia (5.23±3.06 PD) in the primary position reduced by 3.15±1.86 PD (t=6.10, P<0.001). No serious complications were observed. The modified inferior oblique muscle belly transposition procedure can effectively treat mild to moderate inferior oblique overaction and relieve the V-pattern, which is safe and easy to perform.

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Background: To describe the genetic variation of dynein cytoplasmic 2 heavy chain 1 (DYNC2H1) gene in four Chinese families affected with short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3), and to provide evidence for accurate prenatal diagnosis and genetic counseling. Methods: The detailed clinical prenatal sonographic features of four fetuses with SRTD3 were carried out. Trio-whole exome sequencing (WES) and proband-WES sequencing was applied to filtrated causative variants in four families. The causative variants of each family were validated in by Sanger sequencing. Bioinformation analysis was applied to predict the harmfulness of these mutations and perform the protein-protein interaction network and Gene Ontology (GO) analysis. A vitro minigene splicing assay was conducted to assess the influence of the splice site variant. Results: Typical characterization of the four fetuses included short long bones, short ribs, narrow chest, hand and foot posture abnormalities, femur short in diameter and slightly bowing, cardiac abnormalities, and so on. Moreover, eight compound heterozygous variants of DYNC2H1 (NM_001080463.2): c.3842A>C (p.Tyr1281Ser) and c.8833-1G>A, c.8617A>G (p.Met2873Val) and c.7053_7054del (p.Cys2351Ter), c.5984C>T (p.Ala1995Val) and c.10219C>T (p.Arg3407Ter), c.5256del (p.Ala1753GlnfsTer13) and c.9737C>T (p.Thr3246Ile), were identified. Among which, c.10219C>T (p.Arg3407Terp), c.5984C>T (p.Ala1995Val) and c.9737C>T (p.Thr3246Ile) were reported in ClinVar databases, and c.8617A>G (p.Met2873Val), c.10219C>T (p.Arg3407Ter), c.5984C>T (p.Ala1995Val) were found in HGMD databases. Four variants (c.3842A>C (p.Tyr1281Ser), c.8833-1G>A, c.7053_7054del (p.Cys2351Ter) and c.5256del (p.Ala1753GlnfsTer13) were first reported as novel mutations. According to the ACMG guidelines, c.8617A>G (p.Met2873Val), c.7053_7054del (p.Cys2351Ter), c.5984C>T (p.Ala1995Val), c.10219C>T (p.Arg3407Ter) and c.5256del (p.Ala1753GlnfsTer13) were rated as pathogenic or likely pathogenic variants, others variants were predicted to be variants of uncertain significance mutations. The minigene assay results indicated that c.8833-1G>A caused the skipping over exon 56, resulting in exon 56 loss. Conclusion: In our study, we analyzed the genetic mutations in four fetuses with SRTD3 by whole exome sequencing and identified pathogenic variants causing SRTD3. Our results expand the mutation spectrum of DYNC2H1 in SRTD3, which is helpful for the accurate prenatal diagnosis of SRTD3 fetuses and provide useful strategies for genetic counseling.

Systematic review and meta-analysis on efficacy of various exercise programs to improve postural parameters, pain and disability in neck

Forward head posture is a common abnormal posture characterised by weakness of muscle around neck and shoulder. Persistent forward head posture can impair respiratory functions and cervical proprioception. The aim of this systematic review and meta-analysis is to determine the effectiveness of exercises to improve the forward head posture. The online literature search performed on various databases, i.e. PubMed, Cochrane, PEDro, Science Direct and Scopus databases resulted in 601 articles, but only 11 articles were found relevant to perform meta-analysis. The primary outcome measure was craniovertebral angle and other outcome measures were neck pain, cranial angle, cranial rotation angle and Neck Disability Index (NDI). Methodological quality of studies was assessed by PEDro scoring and risk of bias assessment was performed using Cochrane collaboration tool of risk of bias. Results of meta-analysis revealed that craniovertebral angle (CVA), cranial rotation angle (CRA), visual analogue scale and NDI improved significantly (P&lt;0.00001) in forward head posture participants who followed any type of exercise regime compared to the participants who did not follow any exercise program. However, cranial angle was not found significantly (P=0.73) improved in exercise groups. Exercises are effective in improving postural parameters, such as CVA, CRA and pain and neck disability in subjects with forward head posture. Systematic analysis registry at PROSPERO: CRD42020175372