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1.
Rev Bras Ortop (Sao Paulo) ; 59(Suppl 1): e12-e16, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39027181

ABSTRACT

Ulnar club hand is a rare condition of the upper limbs, for which treatment depends on the degree of morphological and functional impairment, correlating with the radiographic classification of Dobyns, Wood, and Bayne. The aim of the present study is to report a case of a 6-year-old male patient, followed up for type III ulnar club hand (total ulnar dysplasia). Despite the initial difficulty of manipulating objects and performing everyday tasks, conservative physical therapy treatment provided strength gain and development of functional skills for daily life. We conclude that patients with type III deformity can be properly managed with rehabilitation although they require outpatient follow-up until skeletal maturity is reached, as dynamic deformities and new functional limitations may lead to need for corrective surgeries.

2.
BMC Sports Sci Med Rehabil ; 16(1): 143, 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38943175

ABSTRACT

INTRODUCTION: Upper Cross Syndrome is a pattern of muscle imbalance and postural dysfunction that can cause discomfort and pain. This study's objective was to compare the effects of Pilates exercises, corrective exercises, and Alexander's technique on upper cross syndrome in adolescent girls aged 13-16 years: a six-week intervention study. METHODS: The present study was Quasi-experimental, and its statistical population consisted of 13 to 16-year-old female students. Forty-five students who were diagnosed with upper cross syndrome were purposefully selected as samples and randomly assigned to three groups: Pilates exercises (N = 15), corrective exercises (N = 15), and Alexander's technique (N = 15). The participants performed exercises for 60 min per session, three sessions per week, and six weeks. This study's objective was to compare the effects of Pilates exercises, corrective exercises, and Alexander's technique on upper cross syndrome in adolescent girls aged 13-16 years: a six-week intervention study. This study was retrospectively registered in the Iranian Registry of Clinical Trials (IRCT) on 2023-09-19 to comply with the journal's policies. The assigned trial registration number is IRCT20230810059106N1. RESULTS: The results of the dependent t-test showed significant decreases in forward head angle (p = 0.0001), rounded shoulder (p = 0.001), and kyphosis (p = 0.0001) as a result of corrective exercises. There were also significant decreases in forward head angle (p = 0.0001), rounded shoulder (p = 0.002), and kyphosis (p = 0.001) after six weeks of practising Alexander's technique. However, in the case of Pilates exercises, a significant decrease in forward head angle (p = 0.110), rounded shoulder (p = 0.598), and kyphosis (p = 0.371) was not observed. The one-way analysis of variance revealed a significant difference in the forward head angle (p = 0.012), rounded shoulders (p = 0.013), and kyphosis (p = 0.009). CONCLUSIONS: The effect of Alexander's technique and corrective exercises on forward head angle, rounded shoulder, and kyphosis abnormalities was almost similar and more effective than pilates exercises.

3.
Physiother Res Int ; 29(2): e2081, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38511600

ABSTRACT

BACKGROUND AND PURPOSE: There is a significant impact of musculoskeletal disorders (MSDs) on individuals of all ages, professions, and fields from various countries worldwide, leading to a negative impact on quality of life and overall health outcomes. The study was conducted to investigate the association between Burnout syndrome (BS) and MSDs among physiotherapists in Saudi Arabia. METHODS: A cross-sectional study was carried out. Physiotherapists of either gender and with no known co-morbidities and who were not suffering from recent injuries and accidents were included in the study. The Copenhagen Burnout Inventory was used to determine the level of burnout. Musculoskeletal disorders were analyzed using the Standardized Nordic Questionnaire (NMQ). The chi-square test was used to observe the association between two categorical variables and a p-value <0.05 was considered to be statistically significant. RESULTS: A total of 133 participants were recruited and it was observed that 70 (53%) participants had low burnout levels (BoL). It was revealed that 65 (49%) had trouble in the neck and visited a physician clinic, 47 (35%) had trouble in the lower back during the last 12 months, 60 (45%) had trouble in the upper back during the last 12 months that prevented the normal activity and 13 (9.8%) participants had trouble in the shoulders during the last 7 days. History of chronic disease, education, practice setting, and smoking status with Burnout level was statistically significant. Trouble in the upper back, elbow, wrist/hands, hips/thighs, ankle/feet, and neck were also found to be significant. CONCLUSION: The outcomes revealed that a few demographic factors such as education, practice setting, smoking status, and chronic disease history were significantly associated with BS. Furthermore, it was observed that MSD had a significant impact on BoL.


Subject(s)
Musculoskeletal Diseases , Occupational Diseases , Physical Therapists , Humans , Cross-Sectional Studies , Saudi Arabia/epidemiology , Quality of Life , Occupational Diseases/epidemiology , Musculoskeletal Diseases/epidemiology , Surveys and Questionnaires , Burnout, Psychological/epidemiology , Chronic Disease , Prevalence
4.
Math Biosci Eng ; 21(1): 582-601, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38303435

ABSTRACT

This paper introduces a solution to address the intricacy of the model employed in the deep learning-based diagnosis of musculoskeletal abnormalities and the limitations observed in the performance of a single deep learning network model. The proposed approach involves the integration of an improved EfficientNet-B2 model with MobileNetV2, resulting in the creation of FusionNet. First, EfficientNet-B2 is combined with coordinate attention (CA) to obtain CA-EfficientNet-B2. Furthermore, aiming to minimize the model parameter count, we further enhanced the mobile inverted residual bottleneck convolution module (MBConv) employed for feature extraction in EfficientNet-B2, resulting in the development of CA-MBC-EfficientNet-B2. Next, the features extracted from CA-MBC-EfficientNet-B2 and MobileNetV2 are fused. Finally, the final diagnosis of musculoskeletal abnormalities was performed by using fully connected layers. The experimental results demonstrate that, first, compared to EfficientNet-B2, CA-MBC-EfficientNet-B2 not only significantly improves the diagnostic performance of musculoskeletal abnormalities, it also reduces the parameter count and storage space by 17%. Moreover, as compared to other models, FusionNet demonstrates remarkable performance in the area of anomaly diagnosis, particularly on the elbow dataset, achieving a precision of 92.93%, an AUC of 93.89% and an accuracy of 87.10%.


Subject(s)
Musculoskeletal Abnormalities , Humans , Musculoskeletal Abnormalities/diagnosis , Deep Learning
5.
J Bodyw Mov Ther ; 36: 125-132, 2023 10.
Article in English | MEDLINE | ID: mdl-37949548

ABSTRACT

INTRODUCTION: Firefighting is a high-risk job with a high prevalence of work-related musculoskeletal disorders (WMSDs). The aim of his study was to determine the prevalence of WMSDs, estimate the likelihood of subsequent disorders, and investigate the effect of NASM-based training protocol on firefighters function. METHOD: First, prevalence and region of WMSDs in all 524 male Isfahan firefighters were determined by Medical-history-questionnaire. Then, functional movement screen (FMS) separated firefighters to the 2-dimension FMS score (FMSCS≤14 or FMSCS>14) to show at risk firefighters. Finally, 40 Participants with both FMSCS≤14 and common WMSDs randomly assigned to either an intervention (IG) (n = 20) or control (CG) (n = 20) group. The IG received NASM-based training, while the CG engaged in daily activities. Outcomes included movement efficiency during landing error scoring system-real time, Y balance, single-leg squat, and deep squat, which were assessed in pretest and posttest. RESULTS: The prevalence of disorders was 52.1%, which lower limb, back, upper limb, and neck were the highest prevalence respectively. Only lower limb and back disorders could identify individuals at disorder risk with a likelihood of 89% and 71%, sequentially. Also, movement performance significantly improved in all functional tests in IG relative to CG. CONCLUSIONS: Considering high disorder rate in firefighters, the value of our study lies in alleging a systematic model periodically to reduce WMSDs and risk of subsequent disorders. Not only our model determined the prevalence of WMSDs, but it also identified those who are at risk. In addition, our model represents exercise therapy as a solution.


Subject(s)
Firefighters , Musculoskeletal Diseases , Occupational Diseases , Humans , Male , Risk Factors , Occupational Diseases/epidemiology , Occupational Diseases/prevention & control , Musculoskeletal Diseases/epidemiology , Musculoskeletal Diseases/prevention & control , Movement , Surveys and Questionnaires , Prevalence
6.
Yale J Biol Med ; 96(3): 367-382, 2023 09.
Article in English | MEDLINE | ID: mdl-37780995

ABSTRACT

We present a Pakistani kinship afflicted with a syndrome with features including short stature, reduced sitting height, orofacial symptoms including prominent forehead and thick eyebrows, short and broad thorax, and variable features such as long philtrum, short broad neck, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Phenotypic variation even within different sibships was considerable. The unique combination of the phenotypic characteristics prompted us to determine the shared homozygosity regions in patient genomes and the pathogenic variants by next generation technologies like single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES). Through these analyses, we detected homozygous OBSL1 c.848delG (p.Gly283AlafsTer54) as the causal variant. Biallelic variants in OBSL1 are known to cause Three M Syndrome 2 (3M2), a rare disorder of growth retardation with characteristic facial dysmorphism and musculoskeletal abnormalities. Affected members of the family do not have the 3M2 hallmark features of dolichocephaly, hypoplastic midface, anteverted nares, low nasal bridge, pectus excavatum, sacral hyperlordosis, spina bifida occulta, anterior wedging of thoracic vertebrae, prominent heels, and prominent talus. Moreover, they have some variable features not typical for the syndrome such as round face, disproportionate short stature, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Our study facilitated genetic diagnosis in the family, expanded the clinical phenotype for 3M2, and unraveled the considerable clinical variation within the same kinship. We conclude that unbiased molecular analyses such as WES should be more integrated into healthcare, particularly in populations with high parental consanguinity, given the potential of such analyses to facilitate diagnosis.


Subject(s)
Hypogonadism , Hypospadias , Male , Humans , Mutation/genetics , Phenotype , Hypogonadism/genetics , Cytoskeletal Proteins/genetics
7.
SAGE Open Med Case Rep ; 11: 2050313X231200418, 2023.
Article in English | MEDLINE | ID: mdl-37771653

ABSTRACT

Arthrogryposis multiplex congenita (AMC) is an uncommon condition present from birth that is marked by a combination of weakened muscles and multiple joint contractures. We present a case of a 2-year-old boy with AMC, who was born to consanguineous parents in Saudi Arabia. He presented with musculoskeletal abnormalities of all four limbs, including symmetric contractures in multiple joints of the body, bilateral developmental dysplasia of the hip, and vertical talus. Dysmorphic features included low-set ears, chin recession, triangular face, and nevus flammeus on the face. The child also had lactose intolerance, gastritis, inguinal hernia, and right-sided undescended testis. Surgical interventions were planned after a multidisciplinary team discussion. This case report highlights the good prognosis of AMC with all four-limb involvement and the importance of a thorough physical examination and a multidisciplinary approach to the diagnosis and management of AMC.

8.
Arch Phys Med Rehabil ; 104(9): 1439-1446, 2023 09.
Article in English | MEDLINE | ID: mdl-36935031

ABSTRACT

OBJECTIVE: To investigate whether proprioceptive accuracy measured with the Joint Position Sense (JPS) in patients with chronic neck and low back pain is impaired exclusively in affected areas or also in distant areas, not affected by pain. DESIGN: Cross-sectional study. SETTING: Interdisciplinary outpatient rehabilitation clinic for back and neck pain. PARTICIPANTS: Patients with chronic neck pain (n=30), patients with chronic low back pain (n=30), and age- and sex-matched asymptomatic control subjects (n=30; N=90). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Patients and asymptomatic control subjects completed a test procedure for the JPS of the cervical spine, lumbar spine, and ankle in a randomized order. Between group differences were analyzed with the univariate analysis of variance and associations of the JPS with clinical features using the Pearson's correlation coefficient. RESULTS: Both patients with chronic neck pain (P<.001) and patients with chronic low back pain (P<.01) differed significantly from asymptomatic controls in the JPS of the cervical spine, lumbar spine and ankle joint, regardless of the painful area. No difference was shown between patient groups (P>.05). An association of the JPS with clinical characteristics, however, could not be shown. CONCLUSION: These results suggest widespread impairment of proprioceptive accuracy in patients with chronic and low back pain and a role for central sensorimotor processes in musculoskeletal pain conditions.


Subject(s)
Chronic Pain , Low Back Pain , Humans , Neck Pain , Cross-Sectional Studies , Proprioception , Neck
9.
J Pediatr Surg ; 58(3): 412-419, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36384939

ABSTRACT

BACKGROUND: Increased risk of scoliosis and musculoskeletal abnormalities in adolescents with esophageal atresia (EA) is reported, but the impact of these abnormalities on physical fitness and motor skills are not known. METHODS: Scoliosis was assessed radiographically and shoulder and chest abnormalities by a standardized protocol. Physical fitness was evaluated with Grippit, Six-minute walk test, and International Physical Activity Questionnaire and motor skills by Motor Assessment Battery for Children. RESULTS: Sixty-seven EA adolescents median 16 (13-20) years participated. The prevalence of significant scoliosis (≥ 20º) was 12% (8/67) whereas 22% (15/67) had mild scoliosis (10-19º). Vertebral anomalies occurred in 18/67 (27%), eight of them (44%) had scoliosis. The majority of adolescents (15/23) with scoliosis did not have vertebral anomalies. Musculoskeletal abnormalities were detected in 22-78%. Balance problems occurred three times more frequently than expected (44% vs. 15%, p = 0.004). Submaximal exercise capacity was significantly reduced compared to reference values (p < 0.001). Scoliosis ≥ 20º was related to reduced physical activity (p = 0.008), and musculoskeletal abnormalities to reduced physical activity and impaired motor skills (p = 0.042 and p < 0.038, respectively). CONCLUSIONS: Significant scoliosis was diagnosed in 12% of the EA adolescents and related to reduced physical activity. Musculoskeletal abnormalities identified in more than half of the patients, were related to reduced physical activity and impaired motor skills, and exercise capacity was significantly below reference group. EA patients with and without vertebral anomalies need health-promoting guidance to prevent impaired motor skills and consequences of reduced physical activity. LEVEL OF EVIDENCE: Prognostic Study, Level II.


Subject(s)
Esophageal Atresia , Musculoskeletal Abnormalities , Scoliosis , Child , Humans , Adolescent , Scoliosis/epidemiology , Scoliosis/etiology , Esophageal Atresia/complications , Esophageal Atresia/epidemiology , Prevalence
10.
Korean J Intern Med ; 37(6): 1099-1110, 2022 11.
Article in English | MEDLINE | ID: mdl-36300322

ABSTRACT

Musculoskeletal conditions are common in patients with diabetes. Several musculoskeletal disorders are viewed as chronic complications of diabetes because epidemiological studies have revealed high correlations between such complications and diabetes, but the pathophysiological links with diabetes remains unclear. Genetic predispositions, shared risk factors, microvascular impairments, progressive accumulation of advanced glycation end-products, and diabetic neuropathy may underlie the development of musculoskeletal disorders. Musculoskeletal complications of diabetics have received less attention than life-threatening microvascular or macrovascular complications. Here, we review several diabetic musculoskeletal complications with a focus on the clinical importance of early recognition and management, which would improve quality of life and physical function.


Subject(s)
Diabetes Complications , Diabetes Mellitus , Musculoskeletal Diseases , Humans , Quality of Life , Diabetes Mellitus/epidemiology , Diabetes Complications/etiology , Musculoskeletal Diseases/diagnosis , Musculoskeletal Diseases/etiology , Risk Factors
11.
Biology (Basel) ; 11(5)2022 Apr 26.
Article in English | MEDLINE | ID: mdl-35625393

ABSTRACT

The practice of Deep Convolution neural networks in the field of medicine has congregated immense success and significance in present situations. Previously, researchers have developed numerous models for detecting abnormalities in musculoskeletal radiographs of upper extremities, but did not succeed in achieving respectable accuracy in the case of finger radiographs. A novel deep neural network-based hybrid architecture named ComDNet-512 is proposed in this paper to efficiently detect the bone abnormalities in the musculoskeletal radiograph of a patient. ComDNet-512 comprises a three-phase pipeline structure: compression, training of the dense neural network, and progressive resizing. The ComDNet-512 hybrid model is trained with finger radiographs samples to make a binary prediction, i.e., normal or abnormal bones. The proposed model showed phenomenon outcomes when cross-validated on the testing samples of arthritis patients and gives many superior results when compared with state-of-the-art practices. The model is able to achieve an area under the ROC curve (AUC) equal to 0.894 (sensitivity = 0.941 and specificity = 0.847). The Precision, Recall, F1 Score, and Kappa values, recorded as 0.86, 0.94, 0.89, and 0.78, respectively, are better than any of the previous models'. With an increasing appearance of enormous cases of musculoskeletal conditions in people, deep learning-based computational solutions can play a big role in performing automated detections in the future.

12.
Acta Ortop Bras ; 30(1): e252308, 2022.
Article in English | MEDLINE | ID: mdl-35431629

ABSTRACT

The relationship between viral infection in pregnancy and congenital anomalies is reported in the medical literature. The risks for the SARS-CoV-2 virus interfering with implantation, growth, and fetal development are not yet known. Many drugs with potential teratogenic risk are being used for treatment. The studies with the vaccine excluded pregnant women from clinical trials, currently preventing high-quality evidence. We present a review of the most common anomalies in the upper extremities caused by congenital viral infection and the risks of anti-COVID-19 therapy and vaccine during pregnancy. We aim to alert orthopedic and hand surgeons to the possibility of these conditions in the future. Level of evidence V; Narrative review.


A relação entre infecção viral na gravidez e anomalias congênitas é relatada na literatura médica. Os riscos de o vírus SARS-CoV-2 interferir na implantação, crescimento e desenvolvimento fetal ainda não são totalmente conhecidos. Muitos medicamentos com potencial de risco teratogênico estão sendo usados para o tratamento. Os estudos clínicos com a vacina excluíram gestantes, o que tem impedido obter evidências de alta qualidade atualmente. Apresentamos uma revisão das anomalias mais comuns nos membros superiores causadas por infecção viral congênita e os riscos da terapia anti-COVID-19 e da vacina durante a gravidez. Nosso objetivo é alertar os cirurgiões ortopédicos e de mão para a possibilidade desses problemas no futuro. Nível de evidência V; Revisão narrativa.

13.
Orphanet J Rare Dis ; 17(1): 118, 2022 03 05.
Article in English | MEDLINE | ID: mdl-35248143

ABSTRACT

BACKGROUND: Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities. Over a life span, many patients with Marfan syndrome will need treatment; however, the musculoskeletal morbidity over a life span is not well described. The aim of the present study was to assess the overall burden of musculoskeletal disease in patients with Marfan syndrome. MATERIALS AND METHODS: A registry-based, nationwide epidemiological study of patients with a Ghent II verified Marfan syndrome diagnosis from 1977 to 2014. Each patient was matched on age, and sex with up to 100 controls from the background population. RESULTS: We identified 407 patients with Marfan syndrome and 40,700 controls and compared their musculoskeletal diagnoses and surgical treatments using Cox proportional hazards ratio (HR). The risk of a registration of a musculoskeletal diagnosis in patients with Marfan syndrome was significantly increased compared to controls (HR: 1.94 (1.69-2.24). One out of six with Marfan syndrome was registered with scoliosis (HR: 36.7 (27.5-48.9). Scoliosis was more common in women with Marfan syndrome compared to men (HR: 4.30 (1.73-1.08)). One out of 11 were registered with a pectus deformity HR: 40.8 (28.1-59.3), and one out of six with a deformity of the foot. Primarily pes planus (HR: 26.0 (15.2-44.3). The proportion of patients with Marfan syndrome (94/407) that underwent musculoskeletal surgery was also significantly higher (HR: 1.76 (1.43-2.16)). The major areas of surgery were the spine, pectups correction, and surgery of the foot/ankle. Ten patients with Marfan syndrome had elective orthopedic surgery without being recognized and diagnosed with Marfan syndrome until later in life. None of these had scoliosis, pectus deformity or a foot deformity. Among patients with an aortic dissection, the age at dissection was 34.3 years in those with at least one major musculoskeletal abnormality. In patients without a major abnormality the age at dissection was 45.1 years (p < 0.01). CONCLUSIONS: The extent of musculoskeletal disease is quite significant in Marfan syndrome, and many will need corrective surgery during their life span. Surgeons should be aware of undiagnosed patients with Marfan syndrome when treating patients with a Marfan syndrome like-phenotype.


Subject(s)
Marfan Syndrome , Scoliosis , Female , Humans , Marfan Syndrome/epidemiology , Proportional Hazards Models , Registries
14.
Spine Deform ; 10(1): 197-199, 2022 01.
Article in English | MEDLINE | ID: mdl-34499331

ABSTRACT

In Paleopathology, total lack of a vertebral body is a rare finding, mostly due to infectious diseases or tumors. We report the case of an adult male from the necropolis next to "Temple of the Millions of Years" of Thutmose III dated to the Late Old Kingdom and First Intermediate Period (2345-2055 BCE). He showed a fracture of T12, more than 50%, associated with the complete disappearance of the body of L1 and bilateral transverse process. Infection and tumor involvement were ruled out due to the morphology of the spinal segment. The most likely diagnosis was complete body agenesis. Congenital kyphosis related to vertebral agenesis has been described as a possibility in paleopathology, but it had not been reported until now.


Subject(s)
Fractures, Bone , Kyphosis , Adult , Egypt, Ancient , Humans , Kyphosis/complications , Male , Paleopathology , Spine/diagnostic imaging
15.
Acta ortop. bras ; 30(1): e252308, 2022. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1355584

ABSTRACT

ABSTRACT The relationship between viral infection in pregnancy and congenital anomalies is reported in the medical literature. The risks for the SARS-CoV-2 virus interfering with implantation, growth, and fetal development are not yet known. Many drugs with potential teratogenic risk are being used for treatment. The studies with the vaccine excluded pregnant women from clinical trials, currently preventing high-quality evidence. We present a review of the most common anomalies in the upper extremities caused by congenital viral infection and the risks of anti-COVID-19 therapy and vaccine during pregnancy. We aim to alert orthopedic and hand surgeons to the possibility of these conditions in the future. Level of evidence V; Narrative review.


RESUMO A relação entre infecção viral na gravidez e anomalias congênitas é relatada na literatura médica. Os riscos de o vírus SARS-CoV-2 interferir na implantação, crescimento e desenvolvimento fetal ainda não são totalmente conhecidos. Muitos medicamentos com potencial de risco teratogênico estão sendo usados para o tratamento. Os estudos clínicos com a vacina excluíram gestantes, o que tem impedido obter evidências de alta qualidade atualmente. Apresentamos uma revisão das anomalias mais comuns nos membros superiores causadas por infecção viral congênita e os riscos da terapia anti-COVID-19 e da vacina durante a gravidez. Nosso objetivo é alertar os cirurgiões ortopédicos e de mão para a possibilidade desses problemas no futuro. Nível de evidência V; Revisão narrativa.

16.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-933877

ABSTRACT

Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

17.
Chinese Journal of Orthopaedics ; (12): 492-499, 2022.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-932858

ABSTRACT

Objective:To evaluate the feasibility of CT volume rendering technology in the assessment of the physeal bar in children.Methods:A retrospective analysis of the relevant CT data of 20 patients with physeal bar from January 2019 to December 2021, 13 boys and 7 girls, age 9.94±2.91 years. The etiology included 17 cases of trauma, 1 cases of tumor, and 2 cases of unknown. The affected sites included 9 cases of distal femur, 5 cases of proximal tibia, 3 cases of distal tibia, and 3 cases of distal radius. Evaluate using volume rendering technology and traditional surface reconstruction technology respectively and the index include the size and type of physeal bar.Results:All the children were successfully examined at one time, and none of them required sedation. The average exposure time was 3.81±0.83 s. During scanning, only low-dose radiation was performed on the affected joints, and routine radiation protection was performed. Using volume rendering technology to evaluate the proportion of the physeal bar, the results obtained by the three testers were 25.36%±15.36%, 24.75%±16.18%, 26.70%±17.72%, and the intraclass correlation coefficient value ( ICC) was 0.976, the three repeated measurements by one tester were 25.36%±15.36%, 25.41%±15.20%, 25.74%±16.00% ( ICC=0.990). Compared with the traditional curved planar reconstruction technical evaluation, the results obtained by the three testers were 28.36%±16.74%, 23.66%±19.87%, 35.25%±15.92% ( ICC=0.737), the three repeated measurement results by one tester were 28.36%±16.74%, 31.66%±13.06%, 30.89%±12.52% ( ICC=0.875). The volume rendering technology was better than the curved planar reconstruction technique. Paired t test was performed on the measurement results of three evaluators and the three repeated measurements of the same evaluator, and the differences were statistically significant ( P<0.05). The same results were acquired by using volume rendering technology to evaluate the type of phseal bar with three testers; but there were 18 cases had the same results by using curved planar reconstruction technology and 2 cases had differences, showing the volume rendering technology was more accurate. Conclusion:Low-dose CT scanning volume rendering technology is an effective method to evaluate the physeal bar in children. It can more intuitively and accurately evaluate the proportion and type of the bar while reducing the radiation exposure of children. The consistency with inter-group and intra-group is better than traditional curved planar reconstruction technique with good reproducibility and clinical significance.

18.
Healthcare (Basel) ; 9(11)2021 Nov 20.
Article in English | MEDLINE | ID: mdl-34828640

ABSTRACT

The relationship of locomotive syndrome with other physical characteristics and lifestyle habits in children has not been fully elucidated. The aim of this study was to assess the prevalence of children's locomotive syndrome, and to determine its relationship with the above-mentioned factors. This was a cross-sectional study of 285 elementary school children who volunteered to participate in a medical checkup for physical function. Data was collected via medical examination, clinical measurements, and questionnaires. A multivariable logistic regression model was used to determine the relationship (odds ratios; ORs) of participants' characteristics, physical functions, and other outcomes determined by questionnaire on locomotive syndrome. The following factors were related to locomotive syndrome: older age (OR = 1.421, 95% confidence interval [CI] [1.039, 1.945]), male sex (OR = 4.011, 95% CI [2.189, 7.347]), and more time spent watching television per day (OR = 1.281, 95% CI [1.001, 1.640]). These results may assist in the encouragement of children to perform appropriate physical activities and avoid unhealthy lifestyle habits, reducing the occurrence of locomotive syndrome.

19.
Clin Rheumatol ; 40(12): 4943-4954, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34515902

ABSTRACT

INTRODUCTION: Improvements in both musculoskeletal and non-musculoskeletal manifestations are important treatment goals in psoriatic arthritis (PsA). OBJECTIVE: These post hoc analyses determined whether additional benefits related to various PsA domains are observed in patients simultaneously achieving 50% improvement in American College of Rheumatology criteria (ACR50) and 100% improvement in Psoriasis Area Severity Index (PASI100), the primary endpoint of the SPIRIT-H2H study. METHODS: Patients with active PsA and psoriasis in SPIRIT-H2H (N = 566) were categorised into two sets of four response groups irrespective of treatment allocation (approved dosages of ixekizumab or adalimumab): patients who simultaneously achieved ACR50 and PASI100 response, achieved ACR50 response only, achieved PASI100 response only, or did not achieve ACR50 or PASI100 response after 24 and 52 weeks of treatment. Patients achieving simultaneous ACR50 and PASI100 response were compared with the other patient response groups at the corresponding time point for efficacy and health-related quality of life (HRQoL) outcomes. RESULTS: Patients simultaneously achieving ACR50 and PASI100 responses at week 24 or 52 showed higher rates of ACR70 response, minimal disease activity, Disease Activity in Psoriatic Arthritis ≤ 4, resolution of enthesitis and dactylitis, and HRQoL improvement at weeks 24 and 52, respectively, than the other corresponding response groups at both time points. CONCLUSION: High levels of disease control, such as those obtained with simultaneous achievement of ACR50 and PASI100 response, were linked to better outcomes across a wide range of endpoints that are important for patients with PsA. Patients meeting this combined endpoint showed more comprehensive and thus greater control of disease activity. Trial registration NCT03151551 Key Points • Treatment goals for patients with psoriatic arthritis emphasise the importance of improving both musculoskeletal and non-musculoskeletal manifestations of the disease. • A combined endpoint considering both these manifestations, achievement of at least 50% improvement in American College of Rheumatology criteria and 100% improvement in Psoriasis Area Severity Index, was linked with achievement of a number of other endpoints relevant to psoriatic arthritis, including health-related quality of life that are important to patients with psoriatic arthritis. • Patients meeting the combined endpoint were more likely to achieve a disease state of remission, which is the stated aim of treatment for psoriasis.


Subject(s)
Antirheumatic Agents , Arthritis, Psoriatic , Adalimumab/therapeutic use , Antirheumatic Agents/therapeutic use , Arthritis, Psoriatic/drug therapy , Double-Blind Method , Humans , Quality of Life , Treatment Outcome
20.
Radiol Med ; 126(12): 1601-1608, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34415508

ABSTRACT

OBJECTIVE: The purpose of this study was to evaluate the importance of MR imaging findings of musculoskeletal involvement of the lower limbs in diagnosing microscopic polyangiitis (MPA) vs polymyositis (PM) or dermatomyositis (DM). MATERIALS AND METHODS: This study included 13 patients diagnosed with MPA clinically and through histologically, and 38 diagnosed with PM/DM, who underwent MR imaging of the lower limbs prior to treatment. Axial and coronal short tau inversion recovery (STIR) images were reviewed retrospectively. RESULTS: The sites affected by MPA were the lower legs in six (46%) patients and the thighs in seven (54%). Intramuscular hyperintensity and fascial hyperintensity were observed in all cases of MPA (100%). Fascial hyperintensity was more frequently encountered in MPA than in PM/DM (100% vs. 45%, p < 0.01). As the predominantly involved sites, the fascial regions were more frequently affected by MPA than by PM/DM (77% vs. 18%, p < 0.01). Diffuse subcutaneous fat hyperintensity was more frequently observed in MPA than in PM/DM (100% vs. 16%, p < 0.01). However, no significant differences in intramuscular hyperintensity (100% vs. 97%, p = 0.745) and subcutaneous fat hyperintensity (54% vs. 50%, p = 0.533) were found between MPA and PM/DM. CONCLUSION: Intramuscular hyperintensity and fascial hyperintensity have always been observed in MPA, and the predominantly affected sites were usually the fascial regions. Compared with PM/DM, fascial hyperintensity and diffuse subcutaneous fat hyperintensity were more frequent in MPA.


Subject(s)
Magnetic Resonance Imaging/methods , Microscopic Polyangiitis/diagnostic imaging , Muscle, Skeletal/diagnostic imaging , Myositis/diagnostic imaging , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Lower Extremity/diagnostic imaging , Male , Microscopic Polyangiitis/physiopathology , Middle Aged , Muscle, Skeletal/physiopathology , Myositis/physiopathology , Retrospective Studies , Young Adult
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