Musculoskeletal Abnormalities Research Articles

Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Series (P14-9.010)

<h3>Objective:</h3> To report two individuals with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome who presented with a metabolic stroke, which has rarely been described as a clinical manifestation of this syndrome. <h3>Background:</h3> ZTTK syndrome is a rare condition caused by a loss-of-function mutation in the <i>SON</i> gene, which is located in chromosome region 21q22, and there are approximately 60 known cases.¹ The <i>SON</i> gene is involved in cellular and mitochondrial processes, but much is still unknown.^2,5,6 The commonly associated clinical manifestations of this condition are global developmental delay, dysmorphic facial features, musculoskeletal abnormalities, abnormal brain MRI, hypotonia, eye anomalies, seizures, and short stature.¹ Here we report two individuals who presented to our institution with a metabolic stroke, which has rarely been described previously other than a single reported case.³ As ZTTK syndrome remains a rare disease, reports which expand the clinical phenotype will help inform clinicians of previous findings, diagnoses, and management strategies. <h3>Design/Methods:</h3> Case series <h3>Results:</h3> Two female children, 11 and 12-year-old, presented very similarly to our institution with sudden left hemiparesis and right gaze preference. Both girls carried a diagnosis of ZTTK syndrome based on their clinical characteristics and genetic testing. Both girls were found to have a metabolic stroke on their MRI brain after extensive workup. The 12-year-old girl was treated with L-arginine, levocarnitine, and ubiquinone, which has been used to treat metabolic strokes in mitochondrial disorders. The 11-year-old girl did not receive any particular treatment for stroke. Both individuals returned to their previous functional baseline within two weeks. <h3>Conclusions:</h3> Metabolic stroke is a rare clinical manifestation of ZTTK syndrome. It is important to recognize metabolic stroke as an etiology of sudden hemiplegia in ZTTK syndrome as it carries clinical and therapeutic implications. Further studies are needed to determine the cause of metabolic stroke in this syndrome. <b>Disclosure:</b> Dr. Morales has nothing to disclose. Ms. El-said has nothing to disclose. Dr. Rossi has nothing to disclose. Dr. Longani has nothing to disclose.

The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy

Purpose49,XXXXY (1:85,000-100,000) is a rare sex chromosome aneuploidy that often presents with complex musculoskeletal abnormalities, decreased cognitive capabilities, speech and language dysfunction, and behavioral complications. Hormonal replacement therapy, or testosterone replacement therapy, is associated with improved neurodevelopmental and behavioral outcomes in males with 49,XXXXY. Two forms of testosterone replacement therapy, early hormonal treatment (EHT) and hormonal booster therapy (HBT), are associated with improved neurodevelopmental and behavioral outcomes in these boys. This study investigates the impact of EHT and HBT on behavioral symptoms in males with 49,XXXXY. MethodsA total of 59 individuals were divided into 4 groups: 19 no testosterone (no-T), 23 EHT, 6 HBT, and 11 EHT and HBT. An analysis of variance examined group differences on the Child Behavior Checklist and the Behavior Rating Inventory of Executive Function ranging from 5 to 18 years. ResultsAlthough no differences were identified on the Behavior Rating Inventory of Executive Function, the 3 hormonal replacement therapy groups presented with decreased complications on numerous variables on the Child Behavior Checklist; these include somatic complaints (P = .0095), somatic problems (P = .041), internalizing problems (P = .034), externalizing problems (P = .0001), and withdrawn/depression (P = .025). ConclusionThis study presents evidence that HBT may be a beneficial treatment for individuals with 49,XXXXY.

MP23-18 RETROSPECTIVE COMPARATIVE ANALYSIS OF REUSABLE AND DISPOSABLE FLEXIBLE URETEROSCOPES: RESULTS FROM FLEXIBLE URETEROSCOPY OUTCOME REGISTRY ( FLEXOR)

You have accessJournal of UrologyCME1 Apr 2023MP23-18 RETROSPECTIVE COMPARATIVE ANALYSIS OF REUSABLE AND DISPOSABLE FLEXIBLE URETEROSCOPES: RESULTS FROM FLEXIBLE URETEROSCOPY OUTCOME REGISTRY ( FLEXOR) Abhishek Singh, Olivier Traxer, Bhaskar Somani, Chai Chua Ann, William Ong Lay Keat, Ben Chew, Arvind Ganpule, Ravindra Sabnis, Mahesh Desai, Thomas Tailly, Esteban Emiliani, Daniele Castellani, Jeremy Yuen-Chun Teoh, and Vineet Gauhar Abhishek SinghAbhishek Singh More articles by this author , Olivier TraxerOlivier Traxer More articles by this author , Bhaskar SomaniBhaskar Somani More articles by this author , Chai Chua AnnChai Chua Ann More articles by this author , William Ong Lay KeatWilliam Ong Lay Keat More articles by this author , Ben ChewBen Chew More articles by this author , Arvind GanpuleArvind Ganpule More articles by this author , Ravindra SabnisRavindra Sabnis More articles by this author , Mahesh DesaiMahesh Desai More articles by this author , Thomas TaillyThomas Tailly More articles by this author , Esteban EmilianiEsteban Emiliani More articles by this author , Daniele CastellaniDaniele Castellani More articles by this author , Jeremy Yuen-Chun TeohJeremy Yuen-Chun Teoh More articles by this author , and Vineet GauharVineet Gauhar More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003248.18AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Our retrospective cohort of 6669 patients enrolled in the FLEXOR registry was analysed with a primary objective of comparing outcomes of use of disposable and reusable flexible ureteroscopes. Secondary objective of the study was to study the stone free rate and complications in both the groups. METHODS: It was a multicentric retrospective study of patients who underwent flexible ureteroscopy (FURS) from January 2018 to August 2021. Patient less than 18 years, ureteral stones and patients with musculoskeletal abnormalities were excluded. Kolmogorov-Smirnov test was used to check data distribution for normality. Continuous data presented as mean and standard deviation and categorical data as absolute numbers and percentages. Univariable logistic regression analysis was performed to evaluate factors for SFR from PSM population. Multivariable assessment done and estimated as odds ratio (OR) and 95% confidence interval (CI), and p-value. RESULTS: There were 4808( 72.1%) patients in the reusable group (Group 1) and 1855 (27.8%) patients in disposable group (group 2). Both the groups were demographically matched. The patients at baseline in the reusable groups were significantly more symptomatic i.e had pain, fever , deranged renal function and culture proven UTI.The mean stone size and stone burden was more in the disposable group (9.62±6.61 vs 11.84±8.59 mm, p≤0.001). As far as the stones > 2 cm are concerned they were statistically more in the disposable group (3.97% vs 10.84%, p≤0.001). Lower polar stones were also proportionately more in the disposable group (43.03% vs 47.06%, p≤0.001). The stone density was also more in the disposable group (967.58±332.14 Vs 1005.48±334.07 , p≤0.001). Operative time was longer in the disposable arm (78.37±43.84 vs 57.67±43.84 min, p≤0.001). Significantly more usage of Holmium laser and TFL was noticed in the reusable group (83.67%) and reusable group respectively.Hospital stay was remarkably less in the disposable group (2.52±2.99 vs 3.96±3.54, p≤0.001) and the residual fragments were statistically more in the reusable group( 25.17% vs 21.78% p≤0.001). On Multivariate analysis Disposable scopes were associated with lesser residual fragments. CONCLUSIONS: Disposable scopes are safe and effective and provide better stone free rates. They are more likely to be used in large burden and lower polar stones. Source of Funding: - © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e314 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Abhishek Singh More articles by this author Olivier Traxer More articles by this author Bhaskar Somani More articles by this author Chai Chua Ann More articles by this author William Ong Lay Keat More articles by this author Ben Chew More articles by this author Arvind Ganpule More articles by this author Ravindra Sabnis More articles by this author Mahesh Desai More articles by this author Thomas Tailly More articles by this author Esteban Emiliani More articles by this author Daniele Castellani More articles by this author Jeremy Yuen-Chun Teoh More articles by this author Vineet Gauhar More articles by this author Expand All Advertisement PDF downloadLoading ...

PD45-07 THULIUM FIBRE VERSUS MOSES LASER LITHOTRIPSY FOR RETROGRADE INTRARENAL SURGERY: IS THERE A CLEAR WINNER? OUTCOMES FROM THE FLEXOR STUDY

You have accessJournal of UrologyCME1 Apr 2023PD45-07 THULIUM FIBRE VERSUS MOSES LASER LITHOTRIPSY FOR RETROGRADE INTRARENAL SURGERY: IS THERE A CLEAR WINNER? OUTCOMES FROM THE FLEXOR STUDY Ee Jean Lim, Khi Yung Fong, Danielle Castellani, Olivier Traxer, Bhaskar Kumar Somani, Ben Chew, and Vineet Gauhar Ee Jean LimEe Jean Lim More articles by this author , Khi Yung FongKhi Yung Fong More articles by this author , Danielle CastellaniDanielle Castellani More articles by this author , Olivier TraxerOlivier Traxer More articles by this author , Bhaskar Kumar SomaniBhaskar Kumar Somani More articles by this author , Ben ChewBen Chew More articles by this author , and Vineet GauharVineet Gauhar More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003358.07AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Currently two technologies, super pulsed thulium fibre laser (TFL) and the Moses laser using the holmium fibre (HLM) are most effective for lithotripsy by flexible ureteroscopy(f-URS) for renal stones. The primary aim of our study is to compare and contrast the outcomes of these two laser technologies in our cohort of 2075 patients enrolled in the FLEXible ureteroscopy Outcomes Registry (FLEXOR) project .Our secondary aim is to evaluate if either technology was superior in stone free rate(SFR) and complications. METHODS: Patients who underwent f-URS for renal stones between January 2018 and August 2021 were retrospectively analysed. Patients aged<18 years, ureteral stones, concomitant bilateral procedures, or musculoskeletal abnormalities were excluded .Kolmogorov-Smirnov test was used to check data distribution for normality. Continuous data presented as mean and standard deviation and categorical data as absolute numbers and percentages. Analyses repeated after propensity score matching (PSM) to adjust for bias. One-to- one matching for age, gender, stone location, single/multiple stone, and HU estimated. Univariate logistic regression analysis was performed to evaluate factors for SFR from PSM population. Multivariable assessment done and estimated as odds ratio (OR) and 95% confidence interval (CI), and p-value. RESULTS: Before PSM matching, there were 508 patients in the HLM and 1567 in the TFL groups. The population in the TFL group were significantly younger (mean age 46.44±14.01 years), larger stone diameter (14.35±7.37 mm p<0.001), single stones (65.6% vs 42.5%, p<0.001) and stones located in the pelvis (46.4% vs 17.1%, p<0.001).Mean stone density was significantly higher in HLM group (1115±386 vs 1068±331 HU, p=0.016). Mean lasing time was significantly longer with HLM (29.40±14.25 vs 20.90±16.47 minutes, p=0.01) and longer total surgical time in TFL (73.41±51.14 vs 61.03±29.47 minutes, p<0.001).TFL group experienced more infective complications. SFR was significantly higher in the TFL group (89.9% vs 61.6%, p<0.001). There were 297 patients in each group after PSM matching. Pure dusting was performed in 5.7% of the HLM group compared with 28.8% in TFL group. A larger proportion of patients required stone extraction in the HLM group compared to the TFL group. (89.2% vs 40.5%, p<0.001). Lasing time did not differ significantly. Total operation time was significantly longer in the TFL group (74.75±51.38 vs 62.42±29.98 minutes, p<0.001). There were 11 patients who had sepsis in the TFL group and none in the HLM group (p=0.002). SFR was significantly higher with TFL (84.8% vs 56.6%, p<0.001). CONCLUSIONS: In our global study TFL was the winner with significantly higher SFR and a better laser for treating renal stones by dusting especially in larger stones A higher rate of sepsis cautions its careful use. MOSES laser lithotripsy is equally effective for fragmentation and extraction but need for ancillary treatment for RF was higher and urologists should counsel patients accordingly. Source of Funding: NIL © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e1165 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Ee Jean Lim More articles by this author Khi Yung Fong More articles by this author Danielle Castellani More articles by this author Olivier Traxer More articles by this author Bhaskar Kumar Somani More articles by this author Ben Chew More articles by this author Vineet Gauhar More articles by this author Expand All Advertisement PDF downloadLoading ...

Knockout mice are an important tool for human monogenic heart disease studies.

Mouse models are relevant to studying the functionality of genes involved in human diseases; however, translation of phenotypes can be challenging. Here, we investigated genes related to monogenic forms of cardiovascular disease based on the Genomics England PanelApp and aligned them to International Mouse Phenotyping Consortium (IMPC) data. We found 153 genes associated with cardiomyopathy, cardiac arrhythmias or congenital heart disease in humans, of which 151 have one-to-one mouse orthologues. For 37.7% (57/151), viability and heart data captured by electrocardiography, transthoracic echocardiography, morphology and pathology from embryos and young adult mice are available. In knockout mice, 75.4% (43/57) of these genes showed non-viable phenotypes, whereas records of prenatal, neonatal or infant death in humans were found for 35.1% (20/57). Multisystem phenotypes are common, with 58.8% (20/34) of heterozygous (homozygous lethal) and 78.6% (11/14) of homozygous (viable) mice showing cardiovascular, metabolic/homeostasis, musculoskeletal, hematopoietic, nervous system and/or growth abnormalities mimicking the clinical manifestations observed in patients. These IMPC data are critical beyond cardiac diagnostics given their multisystemic nature, allowing detection of abnormalities across physiological systems and providing a valuable resource to understand pleiotropic effects.

Prevalence and risk factors of osteoporosis and osteoarthritis among Beta Thalassemia patients

Objective: This study aims to examine the clinical and radiological features of skeletal changes in patients with thalassemia and provide a comprehensive overview of osteoporosis and osteoarthritis in these patients. Materials and Methods: We conducted a retrospective analysis of patients with transfusion-dependent thalassemia, both adults and children, who received follow-up care at our thalassemia center between 2019 and 2020.. Thalassemia was diagnosed via hemoglobin electrophoresis. Transfusion-dependent patients were defined as those who received transfusions every 2-4 weeks, while the control group consisted of individuals with thalassemia trait/carriers.. Both groups were analyzed for clinical characteristics, and Dual-energy X-ray absorptiometry (DEXA) scans, and radiographic images of the knee and wrist were evaluated. Results: DEXA scans of the femur and lumbar spine showed that the prevalence of osteoporosis , Synovial hypertrophy of the wrist joint , wrist effusion , knee effusion, and Power Doppler signals on wrist ultrasound scans was statistically significantly higher in transfusion-dependent thalassemia compared to patients with thalassemia carriers. Conclusion: Beta thalassemia is an inherited multisystem disease that leads to various musculoskeletal abnormalities. Knowledge of the musculoskeletal manifestations of thalassemia allows clinicians to guide their treatment. Familiarity with the radiological features of beta thalassemia is crucial for physicians in the timely diagnosis and management of thalassemia and its complications

Designing an Intelligent Lesion Detection System Using Deep Architecture Neural Networks in the Lower Limb X-Ray Images

Purpose: Diagnosis of musculoskeletal abnormalities is critical because of the large number of people affected by these disorders worldwide. The recent advances in deep learning techniques show that convolutional neural networks can be a useful tool for the computer-aided detection of radiographic abnormalities. This study focuses on diagnosing musculoskeletal abnormalities in the lower extremities using X-Ray images by deep architecture neural networks.&#x0D; Materials and Methods: The dataset contains 61,098 musculoskeletal radiographic images, including 42,658 normal and 18,440 abnormal images. Each image belongs to a single type of lower extremity radiography, including the toe, foot, ankle, leg, knee, femur, and hip joints, which were prepared with standard projection without artifacts and with high quality. A novel deep neural network architecture is proposed with two different scenarios that perform the lower extremity lesion diagnosis functions with high accuracy. The foundation of the proposed method is a deep learning framework based on the Mask Regional Convolutional Neural Network (R-CNN) and Convolutional Neural Network (CNN). The model with the best results incorporated the Mask R-CNN algorithm to produce the bounding box, followed by the CNN algorithm to detect the class based on that.&#x0D; Results: The proposed model can identify different types of lower limb lesions by an Area Under the Curve (AUC) of the Receiver Operating Characteristics (ROC) curve 0.925 with an operating point of 0.859 of sensitivity and a specificity of 0.893.&#x0D; Conclusion: The results indicated that the consecutive implementation of Mask R-CNN and CNN has a higher efficiency than Mask R-CNN and CNN separately in lesion detection of lower limb X-ray images.

Height loss is associated with decreased kidney function: The Japan Specific Health Checkups (J-SHC) Study.

Height loss that occurs with aging is a common phenomenon associated with musculoskeletal abnormalities, such as osteoporosis and sarcopenia. Notably, such height loss is also associated with poor outcomes, including cardiovascular disease and mortality. In this study, we investigated the relationship between height loss and kidney outcome. This longitudinal study includes data from the Japan Specific Health Checkups Study from 2008 to 2014. Height loss was estimated using the first three visits (visits 1-3), and kidney outcomes were evaluated using data from the following visits (visit 3 to the last visit). The annual height change for each participant was estimated using mixed-effects model, and participants were divided into five groups according to the quintile of the rate. The association between height change and the incidence of 1.5-fold increase in serum creatinine level from baseline was analyzed using Cox regression analysis. The decline rates of estimated glomerular filtration rate among the groups were compared using a mixed-effects model. In total, 187 682 participants were included in the analyses. The median rate of height change was -0.11 cm/year. The adjusted hazard ratio (95% confidence interval) for 1.5-fold increase in serum creatinine level in participants with the steepest category of height decline (Q1; Quintile 1) was 1.45 (1.26-1.67) compared with the reference (Q4; Quintile 4). The decline of the estimated glomerular filtration rate in Q1 (-1.25 mL/min/1.73 m2 /year) was significantly higher than that of the reference: Q4 (-0.92 mL/min/1.73 m2 /year) (P for interaction <0.001). Height loss is associated with a rapid decline in kidney function. Geriatr Gerontol Int 2023; 23: 282-288.

Oral Streptococcus mutans load among Indian children with cerebral palsy.

The motor impairments of cerebral palsy (CP) are typically accompanied by subsequent musculoskeletal issues, seizures, and abnormalities of sensation, intelligence, communication, and behaviour. These kids have a lower capacity for regulating oral health because of their poor voluntary movements. Poor oral hygiene brought on by insufficient brushing and flossing, increased use of sugary foods, and orally administered drugs puts people at risk for periodontal disorders and dental caries. Poor dental health and rising therapy demands establish a sadistic cycle that affects patient overall health and wellbeing. The purpose of this investigation was comparing kids with CP against healthy kids of comparable age group and demographic situation in order to evaluate status of oral heath, current caries behavior using measurement of Streptococcus mutans concentrations in saliva, and treatment required. 204 study participants were divided into two categories: Category A and category B. Both categories consisted of 102 study participants. Category A consisted of study participants having CP while category B consisted of healthy normal controls with same age of same demographic features. Malocclusion, trauma, DMFS/defs, gingival index, and Oral hygiene score (OHI), and were recorded for oral examinations of al study participants However, no radiological assistance was utilized since minimal patient compliance existed in CP patients. When compared with the control category, the CP category had a higher detection of the DMFS index in the permanent teeth. The estimated defs for the CP category did not differ noticeably from the control category. In the CP category, status of hygiene of oral cavity was discovered to be substantially subpar. In comparison to the control category, the gingival condition of the CP category was noticeably worse. Treatment requirements were seen to require greater preventative care in the control category while, stainless steel crowns, pulpectomy and extractions were needed in the CP category. S. mutans was found in high concentrations in the salivary specimens of the CP category compared to the control category, indicating active dental caries and greater probability of further development.

Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18

The phenotype of structural chromosome 18 mutations is highly heterogenous, clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the same individual, reports where these alterations are caused by a maternal pericentric inversion and diagnosed prenatally are even rarer. Affected individuals are generally characterized by low birth weight, intellectual disability, heart defects, musculoskeletal abnormalities, craniofacial anomalies, among others. We describe the case of a masculine fetus from a non-consanguineous marriage obtained at week 29 of gestation. 27-year-old mother, G2C1, she started antenatal care at week 11 of pregnancy in the Hospital Universitario del Valle, in Cali, Colombia. Ultrasound at the 11th week of gestation showed a 3.9 mm nuchal translucency (&gt;95p), subsequently at week 18th a new ultrasound found a 6mm nuchal translucency (&gt;95p); suspecting a chromosomal aberration an amniocentesis was carried out at week 18th, a 756-band resolution karyotype reported: 18 partial trisomy (from 18p.11.2 to the centromere and from 18q11.22 to 18qter), and chromosome 18 partial monosomy (from 18pter to 18p11.2 and from the centromere to 18q11.2). The parents also underwent genetic testing, the karyotype of the mother exhibited a pericentric inversion of the 18 chromosome (46,XX,inv(18)(p11.2q11.2), no abnormalities were found in the father’s genetic material. At week 24 of gestation detailed anatomy ultrasound showed left diaphragmatic hernia, multicystic dysplastic kidney, and polyhydramnios. After explaining the diagnosis and providing genetic counseling, the patient requested voluntary interruption of pregnancy as established by the c-355/06 law of the Colombian constitutional court. A 1,180 g fetus as obtained. The structural rearrangement of this case may be explained by an error in maternal meiosis, oogenesis. During meiosis 2 an anomalous disjunction in the chromosome 18 took place, where the two short arms were separated from the long arms, the latter isochromosome was the one that the fetus received, thus, leading to the described mutation. The aim of this case report is to provide to the scientific literature the first case of prenatal diagnosis of a fetus with partial trisomy and partial monosomy of specific bands of the chromosome 1, due to maternal pericentric inversion, while also highlighting the value of early prenatal diagnosis, in order to make choices regarding voluntary interruption of pregnancy, pregnancy follow up, or planning the delivery method, allowing adequate genetic and reproductive counseling for future pregnancies.

CCN6 influences transcription and controls mitochondrial mass and muscle organization.

Mutations in Cellular Communication Network Factor 6 (CCN6) are linked to the debilitating musculoskeletal disease Progressive Pseudo Rheumatoid Dysplasia (PPRD), which disrupts mobility. Yet, much remains unknown about CCN6 function at the molecular level. In this study, we revealed a new function of CCN6 in transcriptional regulation. We demonstrated that CCN6 localizes to chromatin and associates with RNA Polymerase II in human chondrocyte lines. Using zebrafish as a model organism we validated the nuclear presence of CCN6 and its association with RNA Polymerase II in different developmental stages from 10 hpf embryo to adult fish muscle. In concurrence with these findings, we confirmed the requirement of CCN6 in the transcription of several genes encoding mitochondrial electron transport complex proteins in the zebrafish, both in the embryonic stages and in the adult muscle. Reduction in the expression of these genes upon morpholino-mediated knockdown of CCN6 protein expression led to reduced mitochondrial mass, which correlated with defective myotome organization during zebrafish muscle development. Overall, this study suggests that the developmental musculoskeletal abnormalities linked with PPRD could be contributed at least partly by impaired expression of genes encoding mitochondrial electron transport complexes due to defects in CCN6 associated transcriptional regulation.

Window length insensitive real-time EMG hand gesture classification using entropy calculated from globally parsed histograms

Electromyography (EMG) signal classification is vital to diagnose musculoskeletal abnormalities and control devices by motion intention detection. Machine learning assists both areas by classifying conditions or motion intentions. This paper proposes a novel window length insensitive EMG classification method utilizing the Entropy feature. The main goal of this study is to show that entropy can be used as the only feature for fast real-time classification of EMG signals of hand gestures. The main goal of this study is to show that entropy can be used as the only feature for fast real-time classification of EMG signals of hand gestures. Additionally, the entropy feature can classify feature vectors of different sliding window lengths without including them in the training data. Many kinds of entropy feature succeeded in electroencephalography (EEG) and electrocardiography (ECG) classification research. However, to the best of our knowledge, the Entropy Feature proposed by Shannon stays untested for EMG classification to this day. All the machine learning models are tested on datasets NinaPro DB5 and the newly collected SingleMyo. As an initial analysis to test the entropy feature, classic Machine Learning (ML) models are trained on the NinaPro DB5 dataset. This stage showed that except for the K Nearest Neighbor (kNN) with high inference time, Support Vector Machines (SVM) gave the best validation accuracy. Later, SVM models trained with feature vectors created by 1 s (200 samples) sliding windows are tested on feature vectors created by 250 ms (50 samples) to 1500 ms (300 samples) sliding windows. This experiment resulted in slight accuracy differences through changing window length, indicating that the Entropy feature is insensitive to this parameter. Lastly, Locally Parsed Histogram (LPH), typical in standard entropy functions, makes learning hard for ML methods. Globally Parsed Histogram (GPH) was proposed, and classification accuracy increased from 60.35% to 89.06% while window length insensitivity is preserved. This study shows that Shannon’s entropy is a compelling feature with low window length sensitivity for EMG hand gesture classification. The effect of the GPH approach against an easy-to-make mistake LPH is shown. A real-time classification algorithm for the entropy features is tested on the newly created SingleMyo dataset.

Rehabilitation of Completely Edentulous Down Syndrome Patient with Removable Prosthesis - A Case Report

Down Syndrome is one of the commonest autosomal disorders with trisomy of chromosome 21. These patients present with various disorders like mental retardation, cardiovascular disorder, musculoskeletal abnormalities etc. Oral manifestations include periodontal disease, hypodontia, macroglossia and much more. These patients become edentulous frequently and rehabilitation of such patients becomes a challenging task. This case report presents rehabilitation of completely edentulous female patient with down syndrome. Keywords: Down Syndrome, Autosomal, Rehabilitation, Edentulous, Hypodontia

Moebius Syndrome: An Updated Review of Literature.

Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve paresis, ophthalmoplegias, orthodontic deficiencies (including crowded dentition, swollen and hyperplastic gingiva, dental calculus, etc.), musculoskeletal abnormalities, and impaired mental function. Due to the rarity of the disorder, very few case studies have been reported in the literature. This article summarizes the significant features of the disease according to commonalities in reported cases, along with several newly recognized features cited in recent literature. We have explored the different diagnostic criteria and the newly recognized imaging modalities that may be used. Understandably, the condition detrimentally affects a patient's quality of life; thus, treatment measures have also been outlined. This study aims to provide updated literature on Moebius Syndrome MBS and improve understanding of the condition.

Prevalence of upper limb musculoskeletal abnormalities in type 2 diabetic patients and its relation to glycemic control and associated factors

Prevalence of upper limb musculoskeletal abnormalities in type 2 diabetic patients and its relation to glycemic control and associated factors

Marfan Syndrome: an uncommon cause of heart failure with late presentation and management challenges in a Nigerian (case report)

Marfan syndrome is an autosomal dominant disorder with life-threatening cardiovascular complications. It is an uncommon cause of heart failure in our environment. We hereby highlight a case of Marfan syndrome presenting with heart failure, challenges of late presentation and management of Marfan syndrome in our environment. A 56-year-old man with a 4-year history of hypertension presented with 3 months history of exertional dyspnoea and orthopnoea. He had associated musculoskeletal abnormalities and reduced vision since childhood. No family history of Marfan syndrome. Examination revealed features of severe chronic aortic regurgitation, bilateral supero-nasally dislocated lenses, kyphoscoliosis, positive thumb and wrist signs. The resting electrocardiogram showed left ventricular hypertrophy with strain pattern. Ocular ultrasound confirmed bilateral ectopia lentis. Echocardiography revealed aortic root aneurysm, severe aortic regurgitation, left ventricular dilatation and reduced ejection fraction. The computed tomography (CT) aortogram revealed aortic root aneurysm, tortuous abdominal aorta, thoracolumbar scoliosis and pectus excavatum. Using revised Ghent's criteria, a diagnosis of Marfan syndrome in heart failure was made. Management was multidisciplinary with plans for aortic root replacement, family and genetic screening. He commenced beta blocker and angiotensin receptor blocker with symptomatic relief. He reportedly died at home after sudden onset tiredness. His management was hampered by late clinical presentation, difficulty assessing surgery and out of pocket health funding.

Are postnatal traumatic events an underestimated cause of porencephalic lesions in dogs and cats?

Porencephaly is defined as a fluid-filled cavity of variable size in the brain cortex. It is regarded as a congenital condition and is typically considered a developmental or an encephaloclastic defect. Our hypothesis is that postnatal traumatic events in the first few months of life may represent a cause of canine and feline porencephaly that is more common than generally suspected. The aims of this study were to retrospectively investigate porencephaly in a large population of dogs and cats, detect MRI features that might be useful to differentiate postnatal acquired traumatic forms from congenital/perinatal porencephaly, and define the prevalence of seizure activity in porencephalic patients. This is a double-center, descriptive, retrospective case series. Databases were searched for cases within a 17-year time span that involve dogs and cats with an MRI-based diagnosis of cerebral cavitary lesions. Animals were included if a complete signalment and an exhaustive MRI of the brain were available. Besides the porencephalic lesions, MRIs of the head were reviewed to detect concomitant musculoskeletal abnormalities. Thirty-two cases involving nine cats and twenty-three dogs were selected. Of all the cases, 21.9% were aged six years or older at the time of diagnosis. All patients in which the neuroanatomical localization was available showed clinical signs of a prosencephalic disorder. Epileptic seizures were observed in 71.8% of cases. A single porencephalic cavity was found in 78.1% of cases. The most affected cerebral lobe was the parietal lobe (n = 20). The defects involved both the grey and white matter in 78.1% of cases. Twenty cases showed concomitant musculoskeletal abnormalities overlying the porencephalic cavities. Fourteen of twenty cases showed evidence of fractures, of which thirteen showed depression of the calvarium and twelve masticatory muscle abnormalities. Of these, seven of fourteen had a history consistent with a head trauma in the first period of life. The recognition of skull fractures and muscular abnormalities closely associated with the porencephalic cavity may support a diagnosis of a postnatal traumatic origin of porencephaly. Therefore, this study highlights the importance of evaluating musculoskeletal structures in the MRIs of the heads of porencephalic cases.

Cisternostomy In Lipomyelomeningocele Without Hydrocephalus: A Case Report

Introduction: Spinal dysraphisms can be classified as either open or closed dysraphisms. Closed spinal dysraphisms such as lipomyelomeningocele, diastematomyelia, and spina bifida occulta have no exposed neural tissue and are accompanied by cutaneous markers in 43%–95% of cases, and include lesions such as subcutaneous masses, capillary hemangioma, dimples, and hairy nevus. These cutaneous markers can be used to recognize cases in an asymptomatic neonate. LMMC can be associated with additional pathologies, including Chiari malformation type 1 (13%), spina bifida (14.4%), split cord malformations (3.1%), associated dermal sinuses (3.1%), dermoid or epidermoid cysts (3.1%), diastematomyelia (3.1%), terminal hydromyelia (3.1%), anal stenosis (1.0%), and Down syndrome (1.0%). Case Report: A year old girl, came to our department with chief complaint of lump on the back since the patient was born. No history of increased intracranial pressure was complained. On physical examination, there is no maceration on the lump, and there is no sign of ruptured lump on the back. Patient also has active motoric on all extremity. We diagnosed the patient with spina bifida. We did CT scan of the head to rule out hydrocephalus and MRI for the confirmation of spina bifida. Excision of cele was done. Postoperatively, there is an increased of csf leak of the patient from the excised cele and we decided to do cisternostomy. After cisternotomy, there is no increased of leakage and patient also have good motoric function. Patient was treated in our outpatient clinic and has good recovery after surgery. Discussion: Lipomyelomeningocele is a rare but complicated defect, lying in the spectrum of occult neural tube defects. It is actually a form of occult spinal dysraphism in which a subcutaneous fibrofatty mass traverses the lumbodorsal fascia, causes a spinal laminar defect, displaces the dura, and infiltrates and tethers the spinal cord. Spinal lipomas and LMMCs are frequently associated with cutaneous and musculoskeletal abnormalities in addition to sensorimotor deficits and urological dysfunction. Cutaneous lesions include subcutaneous lipomas, capillary hemangiomas, complex dimples, and hypertrichosis, whereas complex malformations, such as dermal appendages, are rare. Magnetic resonance imaging is useful in demonstrating the presence of a fatty mass and cord tethering. Surgical objectives in a lipomyelomeningocele repair include removal of the adipose mass, identification of the defect in the lumbosacral fascia for release of the tether, possible release of the filum terminale, preservation of neural elements, and prevention of retethering of the spinal cord. After operation for lipomyelomeningocele, the cord may not be completely untethered, or after a short period may retether Discussion: Cisternostomy may be done in cases of spina bifida without hydrocephalus in our experience

An unusual presentation of Whipple’s disease: adenopathies, polyarthralgia and dermatomyositis-like symptoms

Whipple’s disease (WD) is a rare systemic disease caused by gram-positive bacillus bacteria that invades multiple organs mainly the intestinal epithelium. Its manifestation is not only limited to the gastrointestinal tract but it also affects the joints, muscle and skin. This is a case of a 54-year-old male patient with a medical history of chronic arthritis presenting with bilateral progressive calves pain, anterior tibial hyperpigmentation, joints pain, anemia and weight loss. He was misdiagnosed as rheumatoid arthritis, for which he was treated by immunosuppressors for several years with no amelioration. After advanced investigations, he was found to have multiple retroperitoneal and mesenteric adenopathies, with an incidental finding of a mesojejunal mass during laparoscopy, from which the biopsies revealed the presence of histiocytosis and numerous intra-cytoplasmic particles with positive periodic acid–Schiff (PAS) suggesting the diagnosis of WD. Endoscopy was done and intestinal histology with polymerase chain reaction (PCR) test confirmed the diagnosis of WD. The patient was then treated with antibiotics (ceftriaxone and trimethoprim-sulfamethoxazole) with a remarkable clinical amelioration. To be aware of WD as a potential etiology behind malabsorption, musculoskeletal and skin abnormalities, is the first step in order to establish the diagnosis and provide adequate treatment, thus, improving the patient’s quality of life. WD is a rare, without antibiotic treatment deadly systemic infectious disease caused by the ubiquitary Gram-positive bacterium Tropheryma whipplei. This article aims to report a case marked with dermatomyositis like presentation that had a missed and delayed diagnosis.

Radiographic, MRI, and CT findings in a young dog with Becker-like muscular dystrophy.

An 8-month-old, male, crossbreed dog was presented for macroglossia, reduced mandibular extension, ptyalism, dysphagia, and regurgitation. Serum creatine kinase and aspartate aminotransferase activity were markedly increased. Thoracic radiographs showed an axial gastro-esophageal hiatal hernia, diaphragmatic thickening, and asymmetry. Magnetic resonance imaging of the head showed a severely enlarged tongue, symmetric increase in size of the geniohyoid and mylohyoid muscles, and diffuse masticatory hypomyotrophy. Whole-body CT ruled out other musculoskeletal abnormalities and further characterized the radiographic and MRI findings. Muscular histopathology was consistent with Becker muscular dystrophy.